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Pathology-Molecular Genetic

Pathology-Molecular Genetic

Stay up to date on the latest medical knowledge with this Pathology-Molecular Genetic activity. In this online self-assessment activity, you'll read our reference articles and test your knowledge with 337 activities in Pathology-Molecular Genetic for 299.5 total CME hours.


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1 Year Unlimited Physician MD/DO/PA CME

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Access to all the Physician MD/DO/PA CME activities in all specialties.

Featured Article Activities

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Hyperacusis

Hyperacusis is a rare hearing disorder characterized by a decreased tolerance to sound where patients report excessive l ...
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Hours: 0.75

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Cancer Breast Screening

In women, breast cancer is number one in incidence and mortality when compared to all cancers. It is the most common non ...
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Hours: 1

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Adrenoleukodystrophy

Adrenoleukodystrophy is a peroxisomal disorder resulting from abnormal metabolism of the very-long-chain fatty acids (VL ...
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Hours: 1.25

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Ehlers Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting collagen formation and function. It affects virtually every ...
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Hours: 1

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Lafora Disease

Lafora disease is a type of progressive myoclonic epilepsy that is inherited in an autosomal recessive manner and typica ...
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Hours: 0.75

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Vohwinkel Syndrome

Vohwinkel syndrome, also known as keratoderma hereditarian mutilans, is classified as a type of hereditary palmoplantar ...
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Hours: 0.75

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Pathology-Molecular Genetic Activities

Title Description Hours Questions
Abciximab Abciximab is widely used in interventional cardiology for the treatment of unstable angina and as an adjunct therapy following percutaneous coronary i ... Read the Article 1 11 Activity MD/PA Activity DO
Abetalipoproteinemia Abetalipoproteinemia is a rare autosomal recessive disorder marked by low or absent levels of plasma cholesterol, low-density lipoproteins and very-lo ... Read the Article 1 8 Activity MD/PA Activity DO
Achondroplasia Achondroplasia is the most common skeletal dysplasia found in humans, accounting for 90% of cases of disproportionate short stature. It is caused by a ... Read the Article 1.25 11 Activity MD/PA Activity DO
Acral Lentiginous Melanoma Acral lentiginous melanoma is a subtype of cutaneous malignant melanoma. It is comprised of malignant melanocytes, which can become invasive with time ... Read the Article 1 7 Activity MD/PA Activity DO
Acrodermatitis Enteropathica Acrodermatitis enteropathica is a rare skin disorder associated with zinc deficiency that is most often seen in infants. Zinc is a very important micr ... Read the Article 1 7 Activity MD/PA Activity DO
Acrokeratoelastoidosis Acrokeratoelastoidosis is a rare, benign, and generally asymptomatic condition that usually begins in childhood and is characterized by flesh-colored ... Read the Article 0.75 4 Activity MD/PA Activity DO
Acrokeratosis Verruciformis of Hopf Acrokeratosis verruciformis is a rare genodermatosis that usually develops in childhood and is characterized by verrucous papules on the dorsum of the ... Read the Article 0.75 6 Activity MD/PA Activity DO
Acute Myeloid Leukemia Acute myeloid leukemia (AML) is the most common leukemia among the adult population and accounts for about 80% of all cases. It is characterized by cl ... Read the Article 1 9 Activity MD/PA Activity DO
Acute Promyelocytic Leukemia Acute promyelocytic leukemia is a distinguished subset of acute myeloid leukemia which is characterized by fusion gene transcript PML-RAR-alpha and hi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Acute Retinal Necrosis Acute retinal necrosis is characterized by peripheral necrotizing retinitis usually due to infection with varicella-zoster virus or herpes simplex vir ... Read the Article 0.75 5 Activity MD/PA Activity DO
Adrenoleukodystrophy Adrenoleukodystrophy is a peroxisomal disorder resulting from abnormal metabolism of the very-long-chain fatty acids (VLCFA). It is classified into di ... Read the Article 1.25 13 Activity MD/PA Activity DO
Afatinib Afatinib, a tyrosine kinase inhibitor, is a widely used medication for non-small cell lung carcinoma. This activity educates health care providers on ... Read the Article 0.75 4 Activity MD/PA Activity DO
Agammaglobulinemia Agammaglobulinemia or hypogammaglobulinemia is a rare inherited immunodeficiency disorder, characterized by low or absent B cells with absent immunogl ... Read the Article 1 8 Activity MD/PA Activity DO
Alagille Syndrome Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder with a wide variety of clinical manifestations. It is also known as arteriohepat ... Read the Article 0.75 6 Activity MD/PA Activity DO
Albright Hereditary Osteodystrophy Albright hereditary osteodystrophy (AHO) is a hereditary condition due to inactivating GNAS1 gene mutation. AHO is characterized by a round face, shor ... Read the Article 0.75 5 Activity MD/PA Activity DO
Alexander Disease Alexander disease is a relatively rare leukodystrophy that generally presents in the infantile period, although other variants are occasionally seen. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Alpha 1 Antitrypsin Mutation Alpha-1 antitrypsin is a protease inhibitor produced primarily in the liver. It inhibits the neutrophil elastase activity in the lung and hence can pr ... Read the Article 0.75 5 Activity MD/PA Activity DO
Alpha Thalassemia Hemoglobin H disease (alpha-thalassemia) can be found in patients that live in areas with a high incidence of malaria. Symptoms at presentation, such ... Read the Article 1 7 Activity MD/PA Activity DO
Alport Syndrome Alport syndrome is a genetic condition characterized by kidney disease, loss of hearing, and eye abnormalities. It takes place due to an abnormality o ... Read the Article 0.75 6 Activity MD/PA Activity DO
Anaplastic Large Cell Lymphoma Anaplastic lymphoma kinase positive (ALK+) anaplastic large cell lymphoma (ALCL), is a T-cell lymphoma characterized by large, pleomorphic lymphoid ce ... Read the Article 0.75 5 Activity MD/PA Activity DO
Anaplastic Thyroid Cancer Anaplastic thyroid carcinoma, also known as undifferentiated thyroid carcinoma, is a rare, highly aggressive malignant tumor accounting for 2 to 3 per ... Read the Article 0.75 4 Activity MD/PA Activity DO
Androgen Insensitivity Syndrome Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders and results in varying phenotypes. These disorders of and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Angelman Syndrome Angelman syndrome is a rare disorder caused by loss of function of the maternal UBE3A. It presents in childhood with psychomotor delay, absent speech, ... Read the Article 0.75 6 Activity MD/PA Activity DO
Angioneurotic Edema Angioneurotic edema is a relatively common presentation in the emergency department. It presents as unpredictable frequent edematous episodes of cutan ... Read the Article 0.75 5 Activity MD/PA Activity DO
Angiosarcoma Angiosarcoma is a tumor of endothelial cell-origin that comprises 1% of all soft tissue sarcomas. It is an aggressive malignancy that carries a poor p ... Read the Article 0.75 5 Activity MD/PA Activity DO
Anhidrosis Anhidrosis is the inability to sweat. It is important to recognize anhidrosis as it can be potentially life-threatening due to heat-related illnesses. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Anorexia and Cachexia Cachexia is a significant loss of muscle and adipose tissue. It occurs in patients with advanced cancer, chronic obstructive pulmonary disease, chroni ... Read the Article 1 7 Activity MD/PA Activity DO
Aplasia Cutis Congenita Aplasia cutis congenita (ACC) is a rare congenital skin defect characterized by a focal or extensive absence of the epidermis, dermis, and occasionall ... Read the Article 0.75 5 Activity MD/PA Activity DO
Aplastic Anemia Aplastic anemia refers to the syndrome of chronic primary hematopoietic failure from injury leading to diminished or absent hematopoietic precursors i ... Read the Article 1 11 Activity MD/PA Activity DO
Arginase Deficiency Argininemia is an autosomal recessive disorder causing hyperammonemia secondary to arginine accumulation. It is a disorder first noticed in children w ... Read the Article 0.75 6 Activity MD/PA Activity DO
Ataxia Ataxia is a neurological sign that manifests in a lack of coordination in the movement of different muscles in the body. It is a clinical finding and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ataxia Telangiectasia Ataxia telangiectasia (Louis-Bar Syndrome) is a rare autosomal recessive condition characterized by cutaneous telangiectasias, cerebellar atrophy with ... Read the Article 1.25 13 Activity MD/PA Activity DO
Atypical Ductal Hyperplasia Atypical ductal hyperplasia (ADH) is a pathology finding, usually found incidentally on biopsy of the breast. ADH is associated with an increased risk ... Read the Article 0.75 5 Activity MD/PA Activity DO
Atypical Fibroxanthoma Atypical fibroxanthoma is a rare, low-grade superficial sarcoma that frequently presents as a red nodule or plaque. It is considered a superficial var ... Read the Article 0.75 5 Activity MD/PA Activity DO
Autoimmune Myopathies Idiopathic inflammatory myositis (IIM) is classified into four subtypes based on clinical and histopathological features. Polymyositis (PM) and dermat ... Read the Article 1 9 Activity MD/PA Activity DO
Axenfeld-Rieger Syndrome Axenfeld-Rieger syndrome (ARS) was previously known as Axenfeld anomaly; the latter term was used to describe one of three subvariants of this spectru ... Read the Article 0.75 5 Activity MD/PA Activity DO
Balint Syndrome Balint syndrome, sometimes also referred to as Balint-Holmes syndrome, is described as a triad of optic ataxia, oculomotor apraxia, and simultagnosia. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Bartter Syndrome Bartter syndrome is an autosomal recessive disorder of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood press ... Read the Article 0.75 5 Activity MD/PA Activity DO
Basal Cell Cancer Basal cell carcinoma a common cutaneous malignancy that occurs mostly on sun-damaged skin of the head, neck, and trunk. Basal cell carcinoma can be di ... Read the Article 1.25 14 Activity MD/PA Activity DO
Basal Cell Carcinoma Basal cell carcinoma is the most common cutaneous malignancy, affecting close to one in five Americans. Although rarely fatal, basal cell carcinoma ca ... Read the Article 0.75 4 Activity MD/PA Activity DO
Basophilia Basophils are typically the least numerous myeloid cells seen in a peripheral blood smear. Their numerous dark azurophilic granules easily distinguish ... Read the Article 0.75 3 Activity MD/PA Activity DO
Becker Muscular Dystrophy Becker muscular dystrophy (BMD) is an X-linked recessive disorder due to mutation in the Dystrophin gene that results in progressive muscle degenerati ... Read the Article 0.75 5 Activity MD/PA Activity DO
Beckwith Wiedemann Syndrome Beckwith-Wiedemann Syndrome is the most common overgrowth syndrome. It is a genetic imprinting disorder, and it can present as a wide and varied clini ... Read the Article 1 6 Activity MD/PA Activity DO
Benign Mesothelioma Mesotheliomas represent a proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal cove ... Read the Article 0.75 4 Activity MD/PA Activity DO
Bicornuate Uterus A bicornuate uterus is a uterine malformation that is produced due to impairment in the fusion of Mullerian ducts. The bicornuate uterus is a rare ano ... Read the Article 1 6 Activity MD/PA Activity DO
Biotinidase Deficiency Biotin acts as a coenzyme for four carboxylation enzymes in the body: 3-methylcrontonyl-CoA carboxylase (MCC), pyruvate carboxylase (PC), acetyl-CoA c ... Read the Article 0.75 5 Activity MD/PA Activity DO
Birdshot Retinopathy Birdshot chorioretinopathy (BCR) is an unusual form of chronic, bilateral, posterior uveitis with a distinguishing clinical phenotype, and a strong as ... Read the Article 0.75 5 Activity MD/PA Activity DO
Birt Hogg Dube Syndrome Birt Hogg Dube syndrome is an autosomal dominant genodermatosis, usually manifesting in the third decade of life with multiple fibrofolliculomas, tric ... Read the Article 0.75 6 Activity MD/PA Activity DO
Bloom Syndrome Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare autosomal recessive inherited disorder char ... Read the Article 0.75 5 Activity MD/PA Activity DO
Blue Nevus Blue nevi are melanotic dermal lesions that commonly presents as a blue nodule on the scalp, extremities, sacrococcygeal region, or buttocks. Its char ... Read the Article 1 7 Activity MD/PA Activity DO
Bone Marrow Failure Bone marrow failure (BMF) refers to the decreased production of one or more major hematopoietic lineages which leads to diminished or absent hematopoi ... Read the Article 1 8 Activity MD/PA Activity DO
Botulinum Toxin Botulinum toxin is a medication used in the management and treatment of therapeutic and cosmetic purposes. Therapeutic uses include chronic migraine, ... Read the Article 1 9 Activity MD/PA Activity DO
BRCA 1 and 2 Breast cancer genes BRCA1 and BRCA2 are tumor suppressor genes whose mutations significantly increase the likelihood of developing particular types of ... Read the Article 1 8 Activity MD/PA Activity DO
Breast Cancer Breast cancer is the most common cancer diagnosed in women, accounting for more than 1 in 10 new cancer diagnoses each year. It is the second most com ... Read the Article 1.25 15 Activity MD/PA Activity DO
Breast Milk Jaundice Breast milk jaundice is a type of jaundice that occurs in neonates due to breastfeeding. It happens within the first week of life due to the abnormal ... Read the Article 1 11 Activity MD/PA Activity DO
Bronchoalveolar Cancer Bronchioloalveolar carcinoma (BAC) is a variant of non-small cell lung cancer (NSCLC) that in recent years has received a new identity and nomenclatur ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cancer Breast Screening In women, breast cancer is number one in incidence and mortality when compared to all cancers. It is the most common non-skin cancer and second deadli ... Read the Article 1 11 Activity MD/PA Activity DO
Carbapenem Resistant Enterobacteriacea Gram-negative bacterial resistance to antibiotics has decreased the physician’s ability to combat infection. Carbapenems are the most potent beta-lact ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cardiac Manifestations Of Coronavirus Coronaviruses are a large family of single positive-stranded, enveloped RNA viruses that can infect many animal species and humans. Human coronaviruse ... Read the Article 1 5 Activity MD/PA Activity DO
Carney Complex Carney complex (CNC) is a rare genetic disorder associated with one of the multiple endocrine neoplasia (MEN) syndromes. Carney complex affects multip ... Read the Article 0.75 4 Activity MD/PA Activity DO
Caroli Disease Caroli disease is a rare inherited disorder involving segmental dilatation of large, intrahepatic bile ducts which appear as cysts on imaging and hist ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cerebral Amyloid Angiopathy Cerebral amyloid angiopathy is a type of cerebrovascular disorder characterized by the accumulation of amyloid beta-peptide within the leptomeninges a ... Read the Article 0.75 6 Activity MD/PA Activity DO
Cerebral Autosomal Dominant Arteriopathy Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited disease with almost exclusively n ... Read the Article 1 9 Activity MD/PA Activity DO
Cerebral Palsy Cerebral palsy is a group of permanent disorders affecting the development of movement and causing a limitation of activity. Non-progressive disturban ... Read the Article 1 11 Activity MD/PA Activity DO
Charcot Marie Tooth Charcot-Marie-Tooth disease (CMT) is the commonest inherited neuromuscular disorder. It affects the peripheral nerves and leads to progressive weaknes ... Read the Article 1.5 18 Activity MD/PA Activity DO
CHARGE Syndrome CHARGE syndrome is an inherited disorder caused by a mutation in the DNA-binding protein-7 CHD7 gene. CHARGE syndrome is an acronym for coloboma, hear ... Read the Article 0.75 6 Activity MD/PA Activity DO
Chediak Higashi Syndrome Chediak Higashi syndrome (CHS) is an autosomal recessive disorder that is characterized by easy bruising, oculocutaneous albinism and recurrent pyogen ... Read the Article 0.75 5 Activity MD/PA Activity DO
Chemotherapy Acral Erythema Acral erythema is also known as palmar-plantar erythrodysesthesia (PPE), palmoplantar erythrodysesthesia, hand-foot syndrome (HFS), or Burgdorf reacti ... Read the Article 0.75 5 Activity MD/PA Activity DO
Child Syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome, also known as CHILD syndrome, is a rare condition that affects dif ... Read the Article 0.75 6 Activity MD/PA Activity DO
Childhood Brain Tumors Pediatric brain tumors are the most common type of solid childhood cancer and only second to leukemia as a cause of pediatric malignancies. They are c ... Read the Article 1 9 Activity MD/PA Activity DO
Chordoma A chordoma is a low-grade, slow-growing but locally invasive and locally aggressive tumor that is a type of sarcoma. Chordomas arise from remnants of ... Read the Article 1 10 Activity MD/PA Activity DO
Chorea According to the Committee on Classification of the World Federation of Neurology, chorea is defined as "a state of excessive, spontaneous movements, ... Read the Article 0.75 4 Activity MD/PA Activity DO
Chronic Granulomatous Disease Chronic granulomatous diseases (CGD) are a group of recurrent life-threatening infections due to a hereditary defect in forming reactive oxygen specie ... Read the Article 1.25 16 Activity MD/PA Activity DO
Chronic Myelogenous Leukemia Chronic myeloid leukemia (CML), BCR-ABL1-positive, is classified as a myeloproliferative neoplasm predominantly composed of proliferating granulocytes ... Read the Article 1 9 Activity MD/PA Activity DO
Chronic Transplantation Rejection Transplant rejection can be classified as hyperacute, acute, or chronic. Hyperacute rejection is usually caused by specific antibodies against the gra ... Read the Article 0.75 6 Activity MD/PA Activity DO
Cicatricial Pemphigoid Cicatricial pemphigoid is a rare, chronic autoimmune blistering disorder which can produce scarring. It can affect the skin, the mucous membranes, or ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cleft Hand Cleft hand, otherwise referred to as ectrodactyly or colloquially as "split hand," is defined as a central longitudinal deficiency expressed as suppre ... Read the Article 0.75 5 Activity MD/PA Activity DO
Complement Deficiency The immune system is the body’s defense mechanism against infections and is made of two pathways - the innate and adaptive pathway. The innate pathway ... Read the Article 1 8 Activity MD/PA Activity DO
Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease emerging from mutations of genes for enzymes that lead to the production of glu ... Read the Article 1 10 Activity MD/PA Activity DO
Congenital Hereditary Endothelial Dystrophy Congenital hereditary endothelial dystrophy (CHED) presents as bilateral corneal opacification present at birth or in the immediate newborn period and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Congenital Myotonic Dystrophy Congenital myotonic dystrophy (CMD) is an autosomal dominant neuromuscular disorder with multisystem involvement. It is a subtype of myotonic dystroph ... Read the Article 1 10 Activity MD/PA Activity DO
Corneal Dystrophy Corneal dystrophies are a collection of genetic diseases that affect corneal transparency and refraction due to increased deposition of abnormal mater ... Read the Article 1 5 Activity MD/PA Activity DO
Cornelia de Lange Syndrome Cornelia de Lange syndrome (CdLS) was initially described in 1933. CdLS is a genetic disorder that affects many organs, leading to various clinical pr ... Read the Article 0.75 6 Activity MD/PA Activity DO
Cowden Disease Cowden disease, also known as Cowden syndrome or multiple hamartoma syndrome, is an uncommon autosomal dominant genodermatosis and is a member of the ... Read the Article 1 10 Activity MD/PA Activity DO
Crigler Najjar Syndrome Crigler-Najjar syndrome is an autosomal recessive inherited disorder that leads to congenital non-hemolytic jaundice. Crigler-Najjar syndrome is cause ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cutis Laxa Cutis laxa (CL) is a group of rare diseases of connective tissue characterized by redundant skin with loss of elasticity and premature aging. Heritabl ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cyclic Neutropenia Cyclic neutropenia is a very rare hematological condition characterized by regular fluctuations in blood neutrophil counts, leading to periodic neutro ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cylindroma Cutaneous cylindromas represent a benign adnexal neoplasm that is quite rare, describing a dual lineage proliferation of cells within the dermis. When ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cystic Fibrosis Until relatively modern times, cystic fibrosis was poorly understood. In 1949, Lowe et al. postulated that cystic fibrosis must be caused by a geneti ... Read the Article 1.5 20 Activity MD/PA Activity DO
Cystic Fibrosis And Liver Disease Cystic fibrosis (CF) is an autosomal recessive (AR) disorder that commonly affects the White population with an annual incidence of approximately 1 in ... Read the Article 0.75 5 Activity MD/PA Activity DO
Cystic Fibrosis Related Diabetes Cystic fibrosis-related diabetes is an extrapulmonary complication of cystic fibrosis. Cystic fibrosis-related diabetes is the result of abnormal gluc ... Read the Article 0.75 5 Activity MD/PA Activity DO
Dentatorubral Pallidoluysian Atrophy Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive, autosomal dominant disorder with symptoms and severity that vary with the age of onset. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Dermal Melanocytosis This activity outlines the evaluation & management of congenital dermal melanocytosis (Mongolian spot). It explains the role of the interprofessional ... Read the Article 0.75 6 Activity MD/PA Activity DO
Dermatofibrosarcoma Protuberans Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumor that involves the dermis, subcutaneous fat, and in rare cases, muscle and fasc ... Read the Article 0.75 6 Activity MD/PA Activity DO
Dermatosis Papulosa Nigra Dermatosis papulosa nigra (DPN) is a benign epidermal growth that presents as hyperpigmented or skin-colored papules that develop on the face and neck ... Read the Article 0.75 5 Activity MD/PA Activity DO
Diamond Blackfan Anemia Diamond Blackfan anemia (DBA) is a congenital type of anemia with pure red cell aplasia causing congenital bone abnormalities and most commonly presen ... Read the Article 0.75 5 Activity MD/PA Activity DO
Diffuse Intrinsic Pontine Glioma Diffuse intrinsic pontine glioma (DIPG) is an aggressive type of childhood cancer that forms in the brainstem. They are very rare and almost always oc ... Read the Article 0.75 5 Activity MD/PA Activity DO
DiGeorge Syndrome DiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosom ... Read the Article 1 7 Activity MD/PA Activity DO
Digoxin Immune Fab Digoxin immune fab is a medication used in the management and treatment of digoxin toxicity. Most toxicity cases are seen in patients with a past medi ... Read the Article 1 6 Activity MD/PA Activity DO
Dowling Degos Disease Dowling-Degos disease is a rare autosomal dominant disorder characterized by acquired reticular hyperpigmentation in flexural sites. Hyperpigmentation ... Read the Article 0.75 6 Activity MD/PA Activity DO
Down Syndrome Down syndrome (trisomy 21) is a genetic disorder caused by the presence of all or a portion of a third chromosome 21. Patients typically present with ... Read the Article 1 9 Activity MD/PA Activity DO
Dyskeratosis Congenita Dyskeratosis congenita, also known as Zinsser-Engman-Cole syndrome, is an uncommon genodermatosis classically associated with the triad of oral leukop ... Read the Article 1 7 Activity MD/PA Activity DO
Dystonia Dystonia is defined by involuntary maintained contraction of agonist and antagonist muscles yielding abnormal posturing, twisting and repetitive movem ... Read the Article 1 6 Activity MD/PA Activity DO
Dystrophinopathies This activity covers a group of X-linked muscle disorders, with their most recognized pathology being Duchenne muscular dystrophy (DMD), followed by B ... Read the Article 0.75 6 Activity MD/PA Activity DO
Ectodermal Dysplasia Ectodermal dysplasias form a diverse group of inherited disorders characterized by a congenital defect in two or more ectodermal structures, one of wh ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a genetic disorder affecting collagen formation and function. It affects virtually every organ system, which can resul ... Read the Article 1 9 Activity MD/PA Activity DO
Enchondroma Enchondromas are benign tumors of unknown etiology that occur in the hyaline cartilage in bones of endochondral origin. Enchondromas account for appro ... Read the Article 1 6 Activity MD/PA Activity DO
Endometrial Cancer Uterine endometrial cancer is the most prevalent gynecologic malignancy in American women and a major cause of both morbidity and mortality. Over 60,0 ... Read the Article 1.75 19 Activity MD/PA Activity DO
Endovascular Papillary Angioendothelioma Endovascular papillary angioendothelioma (EPA), also known as Dabska tumor (DT) and papillary intralymphatic angioendothelioma (PILA), represents a bo ... Read the Article 1 10 Activity MD/PA Activity DO
Enterobacter Infections Enterobacter species are responsible for causing many nosocomial infections, and less commonly community-acquired infections, including urinary tract ... Read the Article 0.75 5 Activity MD/PA Activity DO
Epidermal Nevus Syndromes Epidermal nevus syndrome is an umbrella term used to describe epidermal nevi in association with syndromic features. The first well-described syndrome ... Read the Article 0.75 5 Activity MD/PA Activity DO
Epidermodysplasia Verruciformis Epidermodysplasia verruciformis (EV) is a genetic dermatologic condition in which patients show a decreased immunologic ability to defend against and ... Read the Article 0.75 5 Activity MD/PA Activity DO
Epidermolytic Hyperkeratosis Epidermolytic hyperkeratosis (bullous ichthyosiform erythroderma) is a rare autosomal dominant disorder of cornification caused by mutations in kerati ... Read the Article 0.75 5 Activity MD/PA Activity DO
Eptifibatide Eptifibatide is a glycoprotein IIb/IIIa class platelet inhibitor drug used to reduce ischemic cardiac events in specific patient populations. This act ... Read the Article 0.75 5 Activity MD/PA Activity DO
Erlotinib Erlotinib is a medication used in the management and treatment of some types of non-small cell lung cancer and advanced pancreatic cancer. It is in th ... Read the Article 0.75 6 Activity MD/PA Activity DO
Erythromelalgia Erythromelalgia is a rarely occurring disease entity characterized by a triad of erythema, warmth, and recurrent burning pain, most notably affecting ... Read the Article 1 9 Activity MD/PA Activity DO
Erythropoietic Protoporphyria Erythropoietic protoporphyria (EPP) is an inherited porphyria resulting in the accumulation of protoporphyrins in red blood cells that causes acute, p ... Read the Article 0.75 5 Activity MD/PA Activity DO
Extramammary Paget Disease Extramammary Paget disease (EMPD) is a rare dermatologic condition that frequently presents in areas where apocrine sweat glands are abundant. Most co ... Read the Article 0.75 4 Activity MD/PA Activity DO
Eyelid Coloboma Eyelid coloboma is a rare condition that affects congenitally. It’s a very annoying and disturbing condition for the parents also. While treating the ... Read the Article 0.75 5 Activity MD/PA Activity DO
Fabry Disease Fabry disease is a multi-systemic, X-linked recessive lysosomal storage disease caused by decreased activity of alpha-galactosidase A and results in l ... Read the Article 1 9 Activity MD/PA Activity DO
Factor XIII Deficiency Factor XIII deficiency is a rare bleeding disorder that is challenging to recognize clinically. The lab tests such as the prothrombin time, INR, and a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Fahr Syndrome Fahr disease is a rare neurological condition characterized by abnormal idiopathic calcification of basal ganglia and commonly has an autosomal domina ... Read the Article 1 6 Activity MD/PA Activity DO
Familial Adenomatous Polyposis Familial adenomatous polyposis (FAP) or familial polyposis coli (FPC) is an autosomal dominant polyposis syndrome with varying degrees of penetrance. ... Read the Article 1.25 13 Activity MD/PA Activity DO
Familial Hypercholesterolemia Familial hypercholesterolemia is known as a group of inherited genetic defects that lead to the severe elevation of serum cholesterol concentrations. ... Read the Article 1.5 18 Activity MD/PA Activity DO
Fanconi Anemia Fanconi anemia is a rare genetic disorder, involving all three blood cell lines. It is the most common cause of inherited bone marrow failure characte ... Read the Article 1 8 Activity MD/PA Activity DO
Fatal Familial Insomnia Fatal familial insomnia is a very rare and invariably fatal autosomal dominant neurodegenerative prion disease caused by a mutation of the prion prote ... Read the Article 1 9 Activity MD/PA Activity DO
Fragile X Syndrome Fragile X syndrome (FXS), also called Martin-Bell syndrome, is a non-Mendelian trinucleotide repeat disorder. FXS is the most prevalent inherited caus ... Read the Article 1 9 Activity MD/PA Activity DO
Frontotemporal Lobe Dementia Frontotemporal dementia is a neurodegenerative disorder characterized by loss of intellectual functions, such as memory problems, impaired abstract th ... Read the Article 0.75 6 Activity MD/PA Activity DO
Fructose 1-Phosphate Aldolase Deficiency Fructose 1-phosphate aldolase deficiency or hereditary fructose intolerance (HFI) is an autosomal recessive disorder caused by the deficiency in aldol ... Read the Article 1 7 Activity MD/PA Activity DO
Fuchs Endothelial Dystrophy Fuchs endothelial corneal dystrophy (FED) is a progressive hereditary disease of the cornea characterized by the slow deterioration of endothelial cel ... Read the Article 1 5 Activity MD/PA Activity DO
Gastrinoma Gastrinomas are neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production causing severe peptic ... Read the Article 0.75 6 Activity MD/PA Activity DO
Gaucher Disease Gaucher disease is an autosomal recessive inborn error of metabolism due to the toxic accumulation of glucocerebroside lipids in various organs. It re ... Read the Article 1.25 14 Activity MD/PA Activity DO
Germ Cell Seminoma Germinoma is an uncommon pediatric brain tumor that is morphologically identical to its gonadal counterpart: testicular seminoma and ovarian dysgermin ... Read the Article 1 7 Activity MD/PA Activity DO
Giant Cell Tumor Giant cell tumor is one of the most common benign bone tumors, occurring in young adults ages 20–40 years with a high recurrence rate and a potential ... Read the Article 1 9 Activity MD/PA Activity DO
Gitelman Syndrome Gitelman syndrome is a salt-losing tubulopathy caused by mutation of genes encoding sodium chloride (NCCT) and magnesium transporters in the thiazide- ... Read the Article 0.75 6 Activity MD/PA Activity DO
Gliomas Glioma is the most common form of central nervous system (CNS) neoplasm that originates from glial cells. In the United States, there are six cases of ... Read the Article 1 8 Activity MD/PA Activity DO
Glucose 6 Phosphate Dehydrogenase Deficiency Glucose-6-phosphate dehydrogenase is an enzyme found in the cytoplasm of all cells in the body. It is a housekeeping enzyme that plays a vital role in ... Read the Article 0.75 5 Activity MD/PA Activity DO
Glycogen Storage Disease Glycogen storage diseases (GSDs) are inherited inborn errors of metabolism of carbohydrates. In general, these results from a lack of specific enzymes ... Read the Article 1 8 Activity MD/PA Activity DO
Glycogen Storage Disease Type II Glycogen storage disease type II, also known as Pompe disease, is a metabolic disorder creating glycogen deposits inside lysosomes within the muscular ... Read the Article 0.75 5 Activity MD/PA Activity DO
Gorlin Syndrome Gorlin syndrome, also called Gorlin-Goltz syndrome, basal cell nevus syndrome (BCNS), or nevoid basal cell carcinoma syndrome, is an autosomal dominan ... Read the Article 0.75 5 Activity MD/PA Activity DO
Gyrate Atrophy Of The Choroid and Retina Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by elevation of plasma ornithine levels due to deficien ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hemiplegic Migraine A hemiplegic migraine is a rare form of migraine in which the migraine headache attack is accompanied by unilateral weakness. Typically, migraine aura ... Read the Article 1 7 Activity MD/PA Activity DO
Hemochromatosis Hemochromatosis is a disorder that causes excess iron deposition and, in turn, multiple organ dysfunction. Organs affected by hemochromatosis include ... Read the Article 1.5 23 Activity MD/PA Activity DO
Hemophilia B Hemophilia B is an inherited disease, mainly caused by the deficiency of factor IX. It mostly affects males, but carrier females may show some signs o ... Read the Article 0.75 4 Activity MD/PA Activity DO
Henoch Schonlein Purpura Henoch-Schonlein purpura is an IgA-mediated immune vasculitis involving the small vessels of the joints, kidneys, gastrointestinal (GI) tract, skin, a ... Read the Article 0.75 6 Activity MD/PA Activity DO
Hepatic Cirrhosis Cirrhosis is characterized by fibrosis and nodule formation of the liver secondary to chronic injury, leading to alteration of the normal lobular orga ... Read the Article 1.5 21 Activity MD/PA Activity DO
Hepatoblastoma Hepatoblastomas are the most common primary malignant liver tumor in pediatric patients, and most often occur within the first 2 years of life. The hi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hereditary Fructose Intolerance Hereditary fructose intolerance is an autosomal recessive disorder where patients lack the enzyme to breakdown fructose-1-phosphate. This disease usua ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hereditary Spherocytosis Hereditary spherocytosis, a type of congenital hemolytic anemia, is the most prevalent cause of hemolytic anemia due to an abnormal red cell membrane. ... Read the Article 1.5 20 Activity MD/PA Activity DO
Herpes Virus Type 8 The Human Herpesvirus-8 (HHV-8), also called Kaposi sarcoma Herpesvirus (KSHV), belongs to the family of DNA viruses Herpeseviridae. It causes Kaposi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hirschsprung Disease Hirschsprung disease (HD) is a congenital disorder characterized by the absence of ganglion cells (GC) at the Meissner's plexus (submucosa) and Auerba ... Read the Article 1 9 Activity MD/PA Activity DO
Holt Oram Syndrome Holt-Oram syndrome also referred to as the heart-hand syndrome, is an autosomal dominant disorder that is distinguished by upper limb abnormalities in ... Read the Article 0.75 6 Activity MD/PA Activity DO
Human Papillomavirus The human papillomavirus (HPV) is a non-enveloped, double-stranded, circular DNA virus that is responsible for causing multiple epithelial lesions and ... Read the Article 1.25 13 Activity MD/PA Activity DO
Hydranencephaly Hydranencephaly is a rare congenital abnormality in which the cerebral hemispheres are absent with the basal ganglia, brainstem and meninges preserved ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hyperacusis Hyperacusis is a rare hearing disorder characterized by a decreased tolerance to sound where patients report excessive loudness or pain, often leading ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypercholesterolemia Lipoprotein disorders are clinically important due to the of the role of lipoproteins in atherogenesis and the associated risk of atherosclerotic card ... Read the Article 1 7 Activity MD/PA Activity DO
Hyperhomocysteinemia Hyperhomocysteinemia refers to the condition where there is greater than 15 micromol/L of homocysteine in the blood. This condition is present in a wi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hyperphosphatemia This article summarises the basics of Hyperphosphatemia, including its pathophysiology, evaluation, and management. Though this condition is seen more ... Read the Article 1 6 Activity MD/PA Activity DO
Hypogammaglobulinemia Hypogammaglobulinemia is a disorder caused by low serum immunoglobulin or antibody levels. Immunoglobulins are the main components of the humoral immu ... Read the Article 1 9 Activity MD/PA Activity DO
Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis is a rare channelopathy caused by the skeletal muscle ion channel mutations, commonly calcium channel and less commonly ... Read the Article 1 7 Activity MD/PA Activity DO
Hypomelanosis of Ito Hypomelanosis of Ito (HI), or pigmentary mosaicism, was previously named incontinentia pigmenti achromians. The disease is currently named hypomelanos ... Read the Article 0.75 4 Activity MD/PA Activity DO
Hypophosphatemia Given its widespread role in nearly every molecular, cellular function, aberrations in serum phosphate levels can be highly impactful. Hypophosphatemi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Hypotonia Hypotonia is an easily recognizable entity but determining the etiology is a challenging task for a clinician given its vast differential. Systematica ... Read the Article 1.25 11 Activity MD/PA Activity DO
Ichthyosis Fetalis Harlequin ichthyosis (HI) is an extremely rare, autosomal recessive congenital disorder of the epidermal skin layer. Neonates with HI have a high mort ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ichthyosis X-Linked X-linked ichthyosis (XLI), known as steroid sulfatase (STS) deficiency and X-linked recessive ichthyosis, is a genetic skin disorder recognized in 196 ... Read the Article 0.75 5 Activity MD/PA Activity DO
Idiopathic Guttate Hypomelanosis Idiopathic guttate hypomelanosis (IGH) is a benign, typically asymptomatic, leukodermic dermatosis of unclear etiology that is classically seen in eld ... Read the Article 0.75 5 Activity MD/PA Activity DO
Idiopathic Interstitial Pneumonia With Autoimmune Features This article is aimed at introducing idiopathic interstitial pneumonia with autoimmune features (IPAF) as a separate entity under the umbrella of inte ... Read the Article 0.75 6 Activity MD/PA Activity DO
Imatinib Imatinib is a medication used in the management and treatment of chronic myelogenous leukemia, gastrointestinal stromal tumors, and other malignancies ... Read the Article 1 10 Activity MD/PA Activity DO
Immunodeficiency Immunodeficiency results from a failure or absence of elements of the immune system, including lymphocytes, phagocytes, and complement system. Immunod ... Read the Article 1 8 Activity MD/PA Activity DO
Immunoglobulin E As one of the five designated immunoglobulin isotypes, immunoglobulin E (IgE) plays a major role in atopic conditions by inducing immediate hypersensi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Immunotherapy Immunotherapy is used to upregulate or downregulate the immune system to achieve a therapeutic effect in immunological mediated disorders including im ... Read the Article 1 7 Activity MD/PA Activity DO
Inborn Errors Of Metabolism Inborn errors of metabolism are a heterogeneous group of disorders that may be inherited or may occur as the result of spontaneous mutations. These di ... Read the Article 1 8 Activity MD/PA Activity DO
Infantile Cortical Hyperostosis Infantile cortical hyperostosis (ICH), also known as Caffey disease, was first reported by Roske in 1930 and described by Caffey and Silverman in 1945 ... Read the Article 1 8 Activity MD/PA Activity DO
Insulin Resistance Insulin resistance is identified as an impaired biologic response to insulin stimulation of target tissues, primarily the liver, muscle, and adipose t ... Read the Article 1 9 Activity MD/PA Activity DO
Insulinoma Insulinoma is a type of functional neuroendocrine tumor characterized by hypersecretion of insulin causing hypoglycemia. This activity reviews the man ... Read the Article 1.25 16 Activity MD/PA Activity DO
Inverted Urothelial Papilloma Inverted urothelial papilloma is a rare non-invasive endophytic urothelial tumor of the urinary bladder accounting for less than 1% of urothelial neop ... Read the Article 0.75 5 Activity MD/PA Activity DO
Islets Transplantation Pancreatic islet cell transplantation is performed to prevent unrecognized hypoglycemia in type I diabetics. The procedure involves placing Islet cell ... Read the Article 0.75 5 Activity MD/PA Activity DO
Jacobs Syndrome Jacob's syndrome is a rare genetic abnormality in which a male receives an extra Y chromosome from his father. While many patients go undiagnosed due ... Read the Article 1 7 Activity MD/PA Activity DO
Keratosis Follicularis Darier disease, also known as keratosis follicularis, is a genodermatosis that is inherited in an autosomal dominant fashion. The disease classically ... Read the Article 0.75 5 Activity MD/PA Activity DO
Klinefelter Syndrome Klinefelter syndrome (KS) is the result of 2 or more X chromosomes in a phenotypic male. The clinical phenotype of KS was first described in males wit ... Read the Article 1.25 16 Activity MD/PA Activity DO
Klippel Feil Syndrome Klippel-Feil syndrome presents with an abnormal fusion of 2 or more bones in the cervical spine. This creates a characteristic appearance of a short n ... Read the Article 0.75 4 Activity MD/PA Activity DO
Lafora Disease Lafora disease is a type of progressive myoclonic epilepsy that is inherited in an autosomal recessive manner and typically presents in previously hea ... Read the Article 0.75 6 Activity MD/PA Activity DO
Lesch Nyhan Syndrome Lesch Nyhan Syndrome is an inborn disorder caused by a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) enzyme, an enzyme of purine ... Read the Article 1 9 Activity MD/PA Activity DO
Leukemia Leukemia is a heterogeneous group of hematologic malignancies that arise from dysfunctional proliferation of developing leukocytes. It is classified a ... Read the Article 1 7 Activity MD/PA Activity DO
Leukemia Cutis Leukemia cutis is skin involvement in patients with peripheral leukemia; it is relatively rare and typically signifies an advanced disease stage. This ... Read the Article 1 7 Activity MD/PA Activity DO
Li-Fraumeni Syndrome Li Fraumeni syndrome, also known as sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome, is a rare inherited autosomal dominant disorder asso ... Read the Article 0.75 5 Activity MD/PA Activity DO
Linear IGA Dermatosis Linear immunoglobulin A bullous dermatosis (LABD), also known as linear immunoglobulin A dermatosis or linear immunoglobulin A disease, is a relativel ... Read the Article 0.75 5 Activity MD/PA Activity DO
Linitis Plastica This activity reviews the epidemiology, pathophysiology, genetic background, staging, histological assessment, evaluation, treatment, the prognosis of ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lipoid Pneumonia Lipoid pneumonia is a rare form of lung disease due to aspiration or inhalation of exogenous or endogenous lipid-containing products. In the past, thi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lipoprotein Lipase Deficiency Lipoprotein lipase deficiency is a rare autosomal recessive genetic disorder of lipid metabolism. It is characterized by severe hypertriglyceridemia a ... Read the Article 1 6 Activity MD/PA Activity DO
Lisch Nodules Lisch nodules, traditionally described as iris hamartomas is one of the pathognomic markers of neurofibromatosis type 1 (NF1) and are rarely seen in i ... Read the Article 1 7 Activity MD/PA Activity DO
Littoral Cell Splenic Angioma Littoral cell angioma (LCA) is a rare splenic tumor. Both benign and malignant cases have been reported. This activity reviews the clinical presentati ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lobular Breast Carcinoma Invasive lobular carcinoma is the second most common histologic form of breast cancer, representing 5% to 15% of all invasive breast cancers. It is co ... Read the Article 1.25 15 Activity MD/PA Activity DO
Lung Cancer Lung cancer or bronchogenic carcinoma refers to tumors originating in the lung parenchyma or within bronchi. It is one of the leading causes of cancer ... Read the Article 1.75 23 Activity MD/PA Activity DO
Lymphoproliferative Disorders Lymphoproliferative disorders (LPD) comprise a heterogeneous group of diseases characterized by uncontrolled production of lymphocytes that cause mono ... Read the Article 0.75 6 Activity MD/PA Activity DO
Lynch Syndrome Most colorectal cancers occur sporadically; however, inherited cancer syndromes or inherited mutations cause approximately 5 to 10 percent of cases. T ... Read the Article 0.75 5 Activity MD/PA Activity DO
Lysosomal Storage Disease Lysosomal storage diseases (LSDs) are inborn errors of metabolism characterized by the accumulation of substrates in excess in various organs' cells d ... Read the Article 1 5 Activity MD/PA Activity DO
Male Breast Cancer Although breast cancer is typically synonymous as a disease that commonly occurs in women, it does occur in men as well. This is because although mini ... Read the Article 0.75 5 Activity MD/PA Activity DO
Mandibulofacial Dysostosis Treacher Collins syndrome is a congenital disorder of craniofacial development that has variable phenotypic expression. It can be inherited in an auto ... Read the Article 0.75 5 Activity MD/PA Activity DO
Mantle Cell Lymphoma Mantle cell lymphoma (MCL) is a rare subtype of B-cell non-Hodgkin lymphomas (NHLs) defined by a confirmatory translocation of the CCND1 gene. The va ... Read the Article 0.75 4 Activity MD/PA Activity DO
Mastocytoma A mastocytoma is a tumor of mast cells, which are derived from myeloid stem cells and located in connective tissues, predominantly in the skin and muc ... Read the Article 0.75 5 Activity MD/PA Activity DO
Maturity Onset Diabetes in the Young The most commonly recognized forms of diabetes mellitus include type 1 diabetes, an autoimmune disorder, and type 2 diabetes, a polygenic disorder inf ... Read the Article 1 8 Activity MD/PA Activity DO
May Hegglin Anomaly May-Hegglin anomaly (MHA) is a rare autosomal dominant disease characterized by neutrophils with abnormal cytoplasmic inclusions, large platelets, and ... Read the Article 0.75 6 Activity MD/PA Activity DO
McArdle Disease McArdle disease is a genetic disorder that mainly affects skeletal muscles. It occurs due to the deficiency or absence of an enzyme called myophosphor ... Read the Article 0.75 6 Activity MD/PA Activity DO
Medium-Chain Acyl-COA Dehydrogenase Deficiency Medium-chain acyl-COA dehydrogenase (MCAD) deficiency is one of the most common fatty acid ß-oxidation disorders. It is an autosomal recessive disorde ... Read the Article 0.75 6 Activity MD/PA Activity DO
Medulloblastoma While leukemias are the most common type of malignancy affecting the pediatric population, brain tumors are the most common solid tumors in this popul ... Read the Article 1.25 14 Activity MD/PA Activity DO
Melas Syndrome Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease primarily affecting the nervous system an ... Read the Article 0.75 6 Activity MD/PA Activity DO
Meningocele Meningocele is one of the common congenital neural tube defects. Meningocele is the simplest form of open neural tube defects characterized by cystic ... Read the Article 1.25 14 Activity MD/PA Activity DO
Meningococcal Vaccine Meningococcal disease is a leading cause of morbidity and mortality worldwide. This activity will describe how to deal with this disease as a serious ... Read the Article 1 11 Activity MD/PA Activity DO
Menkes Kinky Hair Disease Menkes kinky hair disease is a rare X-linked recessive progressive multisystemic disease of copper metabolism. Patients usually exhibit a severe clini ... Read the Article 1 6 Activity MD/PA Activity DO
Mercaptopurine Mercaptopurine is a medication used in the management and treatment of acute lymphoblastic leukemia. It is in the class of medications known as purine ... Read the Article 0.75 6 Activity MD/PA Activity DO
Meromelia Meromelia is defined as a partial absence of a free limb. Limb deficiencies have been known to be caused by chromosomal abnormalities, genetic disorde ... Read the Article 0.75 5 Activity MD/PA Activity DO
Metachromatic Leukodystrophy Metachromatic leukodystrophy is a rare lysosomal storage disease caused due to deficient activity of arylsulfatase A. It follows an autosomal recessiv ... Read the Article 1 8 Activity MD/PA Activity DO
Methicillin Resistant Staphylococcus Aureus Based on the antibiotic susceptibilities, Methicillin resistance in S. aureus is defined as an oxacillin minimum inhibitory concentration (MIC) of gre ... Read the Article 1 7 Activity MD/PA Activity DO
Microcystic Adnexal Carcinoma Microcystic adnexal carcinoma is a slow-growing, locally aggressive sweat gland tumor that is more commonly found on the head and neck. This activity ... Read the Article 0.75 6 Activity MD/PA Activity DO
Micropenis Micropenis is a vital sign that can indicate a hormonal deficiency or genetic association. Early recognition of this condition is essential in providi ... Read the Article 0.75 5 Activity MD/PA Activity DO
Mucopolysaccharidosis Type II Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive disorder. It has an early age of onset with clinical symptoms involving m ... Read the Article 1 8 Activity MD/PA Activity DO
Muir-Torre Syndrome Muir-Torre Syndrome is an autosomal dominant phenotypic variant of hereditary non-polyposis colorectal cancer, which is also known as Lynch syndrome. ... Read the Article 0.75 5 Activity MD/PA Activity DO
Multifocal Motor Neuropathy Multifocal motor neuropathy (MMN), also called multifocal motor neuropathy with conduction block (MMNCB), is a rare, acquired, motor neuropathy charac ... Read the Article 1 9 Activity MD/PA Activity DO
Muscular Dystrophy The term "muscular dystrophy" incorporates an assortment of hereditary disorders that lead to progressive, generalized disease of the muscle prompted ... Read the Article 1 6 Activity MD/PA Activity DO
Myelodysplastic Syndrome Myelodysplastic syndrome (MDS) is a heterogeneous group of hematologic neoplasms classically described as a clonal disorder of hematopoietic stem cell ... Read the Article 0.75 4 Activity MD/PA Activity DO
Myeloperoxidase Deficiency Myeloperoxidase (MPO) is a hemoprotein expressed in azurophilic granules of neutrophils and in the lysosomes of monocytes. The enzyme has strong antib ... Read the Article 0.75 5 Activity MD/PA Activity DO
Myeloproliferative Neoplasms Hematopoietic pluripotent stem cells have self-renewal capability and give rise to either myeloid or the lymphoid lineage which further differentiates ... Read the Article 1 6 Activity MD/PA Activity DO
Myotonic Dystrophy Myotonic dystrophy is a rare progressive disorder that universally presents with weakness. In addition to musculoskeletal weakness, cardiac conduction ... Read the Article 1 9 Activity MD/PA Activity DO
Neuroacanthocytosis Neuroacanthocytosis refers to a group of inherited genetic disorders resulting in a combination of misshapen red blood cells (acanthocytes) and progre ... Read the Article 0.75 6 Activity MD/PA Activity DO
Neuroblastoma Neuroblastoma (NB) is the most frequently-occurring extracranial childhood tumor. It is classified as an embryonal neuroendocrine tumor, originating f ... Read the Article 1 12 Activity MD/PA Activity DO
Nevus Comedonicus Proper diagnosis and management of nevus comedonicus can lead to better patient outcomes and quality of life. This activity reviews the evaluation, ... Read the Article 0.75 6 Activity MD/PA Activity DO
Nevus Flammeus Nevus flammeus or port-wine stain is a capillary malformation usually presenting as a unilateral pink or red patch anywhere on the body of a newborn. ... Read the Article 1 7 Activity MD/PA Activity DO
Nevus Of Ota And Ito Ocular dermal melanosis, also known as nevus of Ota or oculodermal melanocyte, is benign melanosis that involves the distribution of the trigeminal ne ... Read the Article 1 12 Activity MD/PA Activity DO
Nevus Sebaceous Nevus sebaceus of Jadassohn, also referred to as organoid nevus, is a congenital malformation involving hamartomas of the pilosebaceous follicular uni ... Read the Article 1 7 Activity MD/PA Activity DO
Nonketotic Hyperglycinemia Nonketotic hyperglycinemia is a rare, genetic, inborn error of glycine metabolism. Due to a mutation in the glycine cleavage enzyme system, the patien ... Read the Article 0.75 5 Activity MD/PA Activity DO
Noonan Syndrome Noonan syndrome is typically a genetically inherited disorder with heterogeneous phenotypic manifestations, that can change with age. The most consist ... Read the Article 0.75 5 Activity MD/PA Activity DO
Normocalcemic Hyperparathyroidism Normocalcemic hyperparathyroidism (nHPT) is a condition characterized by normal serum calcium in the face of elevated parathyroid hormone (PTH). It ca ... Read the Article 1 8 Activity MD/PA Activity DO
Ocular Melanoma Ocular melanoma is diagnosed from ultrasonography, fluorescein angiography, enhanced depth imaging optical coherence tomography, and fine-needle aspir ... Read the Article 1 7 Activity MD/PA Activity DO
Oligodendroglioma Oligodendroglioma (OG) is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve ... Read the Article 0.75 5 Activity MD/PA Activity DO
Optic Atrophy Optic atrophy is the hallmark of damage to the visual pathway. It appears as a pale disc on fundus examination. This clinical appearance is not a dise ... Read the Article 0.75 5 Activity MD/PA Activity DO
Ornithine Transcarbamylase Deficiency Ornithine transcarbamylase deficiency is the most common of the urea cycle disorders. It is an X-linked genetic disorder that prevents the breakdown a ... Read the Article 0.75 4 Activity MD/PA Activity DO
Oropharyngeal Squamous Cell Carcinoma Oropharyngeal squamous cell carcinoma, commonly known as throat cancer or tonsil cancer, is a type of head and neck cancer that refers to the cancer o ... Read the Article 1 7 Activity MD/PA Activity DO
Osler-Weber-Rendu Disease Hereditary hemorrhagic telangiectasia (HHT) is also known as Osler–Weber–Rendu disease. It is an autosomal dominant disorder characterized by multiple ... Read the Article 0.75 6 Activity MD/PA Activity DO
Osteochondroma Osteochondromas are common benign osseous surface lesions generally arising from the metaphysis of long bones. The lesions are most commonly asymptoma ... Read the Article 0.75 5 Activity MD/PA Activity DO
Osteogenesis Imperfecta Osteogenesis imperfecta (OI) is a genetic disorder of connective tissues caused by an abnormality in the synthesis or processing of type I collagen. I ... Read the Article 1 11 Activity MD/PA Activity DO
Osteopetrosis The name osteopetrosis encompasses a group of hereditary metabolic bone diseases, all of which detrimentally affect bone growth and remodeling leading ... Read the Article 0.75 6 Activity MD/PA Activity DO
Palmoplantar Psoriasis Palmoplantar psoriasis is a chronic variant of psoriasis that characteristically affects the skin of the palms and soles and produces significant func ... Read the Article 0.75 4 Activity MD/PA Activity DO
Papillary Thyroid Carcinoma Papillary thyroid carcinoma (PTC) is an epithelial malignancy showing evidence of follicular cell differentiation and a set of distinctive nuclear fea ... Read the Article 1 11 Activity MD/PA Activity DO
Paraneoplastic Syndromes Paraneoplastic syndromes are rare disorders with complex systemic clinical manifestations due to underlying malignancy. In paraneoplastic syndromes, ... Read the Article 1.25 14 Activity MD/PA Activity DO
Parathyroid Cancer Parathyroid carcinoma is a rare, malignant neoplasm originating from the parathyroid gland. The clinical presentation can mimic primary parathyroid ad ... Read the Article 0.75 5 Activity MD/PA Activity DO
Paroxysmal Nocturnal Hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disease that presents clinically with a variety of nonspecific symptoms. It causes complications m ... Read the Article 1 8 Activity MD/PA Activity DO
Partial And Total Anomalous Pulmonary Venous Connection Total and partial anomalous venous connection comprises a wide spectrum of congenital cardiovascular malformations where one or more pulmonary veins r ... Read the Article 1 6 Activity MD/PA Activity DO
Pelizaeus-Merzbacher Disease Pelizaeus-Merzbacher disease (PMD) is a demyelinating disorder of the CNS belonging to the group of hypomyelination leukodystrophies. This activity de ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pemphigoid Gestationis Pemphigoid gestationis, formerly known as herpes gestationis, is a rare autoimmune sub-epidermal bullous dermatosis of pregnancy that shares some clin ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pemphigus Foliaceus Pemphigus is a potentially life-threatening, autoimmune blistering disease characterized by the presence of circulating antibodies against desmogleins ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pemphigus Vegetans Pemphigus is a group of vesiculobullous autoimmune diseases. The most common type of pemphigus is pemphigus vulgaris, characterized by mucocutaneous b ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pendred Syndrome Pendred syndrome is characterized by the combination of sensorineural hearing loss and thyroid goiter with or without hypothyroidism. This activity is ... Read the Article 0.75 6 Activity MD/PA Activity DO
Pericholangitis The diagnostic criteria for small-duct primary sclerosing cholangitis (SDPSC) included biochemical features of chronic cholestasis with unknown etiolo ... Read the Article 0.75 5 Activity MD/PA Activity DO
Peritoneal Cancer Peritoneal cancer is the invasion of the serous membrane lining the peritoneal cavity by malignant cells. The malignant cells originate de novo in the ... Read the Article 1 6 Activity MD/PA Activity DO
Pernio Pernio also referred to as chilblains, is a rare inflammatory condition. The term "chilblains" derives from two Old English words "chill" (cold) and ... Read the Article 1 7 Activity MD/PA Activity DO
Pfeiffer Syndrome Pfeiffer syndrome is an inherited craniofacial disorder that is associated with primary craniosynostosis, midface hypoplasia, broad thumbs and great t ... Read the Article 0.75 6 Activity MD/PA Activity DO
Phenol Toxicity Phenol is a historical disinfectant with continued use in industry, laboratories, and some health care settings. Phenol is a protoplasmic poison that ... Read the Article 0.75 5 Activity MD/PA Activity DO
Piebaldism Piebaldism is an autosomal dominant disorder of melanocyte migration and development characterized by isolated congenital leukoderma (white skin) and ... Read the Article 0.75 4 Activity MD/PA Activity DO
Pierre Robin Syndrome Pierre Robin sequence is a constellation of micrognathia, glossoptosis, and upper airway obstruction. It is a clinical diagnosis that can range in sev ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pigmented Villonodular Synovitis Pigmented villonodular synovitis (PVNS) refers to a subtype of tenosynovial giant cell tumors that diffusely affect the soft tissue lining of joints a ... Read the Article 1 7 Activity MD/PA Activity DO
Pilocytic Astrocytoma Pilocytic astrocytoma is the most common childhood brain tumor and most often found in the posterior fossa. Complete resection usually cures the patie ... Read the Article 0.75 5 Activity MD/PA Activity DO
Plasmablastic Lymphoma Plasmablastic lymphoma (PBL) is an uncommon but aggressive subtype of diffuse, large, B-cell lymphoma. The diagnosis of PBL is difficult because its f ... Read the Article 0.75 3 Activity MD/PA Activity DO
Pleuropulmonary Blastoma Pleuropulmonary blastomas are rare, malignant mesenchymal tumors that typically present with non-specific symptoms. Radiologic features may increase t ... Read the Article 0.75 4 Activity MD/PA Activity DO
Poikilocytosis Poikilocytosis is the term for abnormally shaped red blood cells in the blood. Poikilocytes may be flat, elongated, teardrop-shaped, crescent-shaped, ... Read the Article 1 7 Activity MD/PA Activity DO
Poikiloderma Congenitale Congenital poikiloderma, also known as Rothmund-Thomson syndrome (RTS), is a rare genodermatosis with autosomal recessive inheritance. It is character ... Read the Article 0.75 2 Activity MD/PA Activity DO
Polycystic Kidney Disease Of Childhood There are two inherited varieties of polycystic kidney disease (PKD): autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive pol ... Read the Article 1 7 Activity MD/PA Activity DO
Polycythemia Polycythemia, also called erythrocytosis, refers to an increase in red blood cell mass, noted on laboratory evaluation as increased hemoglobin and hem ... Read the Article 0.75 5 Activity MD/PA Activity DO
Polycythemia Vera Polycythemia vera is a myeloproliferative disorder associated with a JAK2 kinase mutation that causes the neoplastic proliferation of the hematopoieti ... Read the Article 0.75 6 Activity MD/PA Activity DO
Polydactyly Polydactyly may indicate the presence of a very serious underlying disease or may present as an isolated finding. It may present in upper extremity or ... Read the Article 0.75 5 Activity MD/PA Activity DO
Polygenic Hypercholesterolemia Hypercholesterolemia causes atherosclerotic vascular disease leading to the development of coronary artery disease, transient ischemic attack, stroke, ... Read the Article 0.75 6 Activity MD/PA Activity DO
Polyglandular Autoimmune Syndrome Type II Polyglandular autoimmune syndrome type 2 (PAS-2) is an autoimmune syndrome which leads to lymphocytic infiltration causing organ-specific damage. PAS- ... Read the Article 1 8 Activity MD/PA Activity DO
Prader-Willi Syndrome Prader Willi syndrome (PWS) is a rare and complex genetic disease. The condition has numerous implications on metabolic, endocrine, and neurologic sys ... Read the Article 1 9 Activity MD/PA Activity DO
Precocious Pseudopuberty Precocious puberty is traditionally defined as the appearance of secondary sexual characteristics before the age of eight years in girls and nine year ... Read the Article 1 5 Activity MD/PA Activity DO
Precocious Puberty Precocious puberty is an early onset of puberty and secondary sexual characteristics in children. It is a very challenging diagnosis as the differenti ... Read the Article 1 6 Activity MD/PA Activity DO
Primary Bone Cancer Primary bone cancers are rare malignant tumors originating in bone and derived from primitive mesenchymal cells. They are frequently aggressive tumors ... Read the Article 1.25 13 Activity MD/PA Activity DO
Primitive Neuroectodermal Tumor In 2016, the World Health Organization published a revised classification of central nervous system tumors using molecular parameters. In this classif ... Read the Article 0.75 5 Activity MD/PA Activity DO
Progressive Supranuclear Palsy Progressive supranuclear palsy (PSP) is a form of atypical parkinsonian syndrome, also known as a Parkinson-plus disorder. It is an uncommon neurologi ... Read the Article 1 10 Activity MD/PA Activity DO
Pseudomyxoma Peritonei Pseudomyxoma peritonei (PMP) is a rare clinical entity characterized by diffuse intra-abdominal gelatinous ascites with mucinous implants on peritonea ... Read the Article 1 10 Activity MD/PA Activity DO
Pulmonary Arteriovenous Malformation A pulmonary arteriovenous malformation (PAVM) is a rare pulmonary condition described as a pathologic right-to-left shunt which impairs gas exchange a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Pyruvate Kinase Deficiency Pyruvate kinase deficiency (PKD) is the most common enzyme-related glycolytic defect that results in red cell hemolysis. Invariably, PKD results in he ... Read the Article 1 9 Activity MD/PA Activity DO
Radial Dysplasia Radial club hand encompasses a spectrum of complex congenital malformations of the radial side of the forearm. These are uncommon and can range from a ... Read the Article 0.75 6 Activity MD/PA Activity DO
Rectal Cancer Colon and rectal cancers together are the third most commonly diagnosed cancer in the United States and the second deadliest. Rectal cancer has distin ... Read the Article 1 6 Activity MD/PA Activity DO
Refractory Anemia With Ring Sideroblasts Refractory anemia with ring sideroblasts (RARS) is a type of myelodysplastic syndrome (MDS) that is characterized by anemia and the presence of at lea ... Read the Article 0.75 5 Activity MD/PA Activity DO
Refsum Disease Refsum disease is a rare autosomal recessive disease from the peroxisomal biogenesis spectrum of disorders. Peroxisomes are multiple membrane-bound in ... Read the Article 1 6 Activity MD/PA Activity DO
Renal Cancer Renal cell carcinoma (RCC) is the most common malignant tumor of the kidney and constitutes over 90 percent of all renal malignancies. RCC may be spor ... Read the Article 1 8 Activity MD/PA Activity DO
Renal Oncocytoma Renal oncocytomas are common benign kidney neoplasms that account for 3 to 7 percent of renal neoplasms. They usually occur in adults, most frequently ... Read the Article 0.75 5 Activity MD/PA Activity DO
Retinal Detachment Retinal detachments constitute a serious ocular condition and can lead to permanent vision loss. When the retina, the neurosensory layer, detaches fro ... Read the Article 1.25 16 Activity MD/PA Activity DO
Retinoblastoma Retinoblastoma is the most common primary intraocular malignancy of childhood. Patients management is best in consultation with an experienced ophthal ... Read the Article 1 7 Activity MD/PA Activity DO
Rett Syndrome Rett syndrome (RTT) is a neurodevelopmental disorder that should be considered in a child who demonstrates regression in previously acquired skills af ... Read the Article 1 11 Activity MD/PA Activity DO
Rickets Rickets is a condition characterized by a defect in mineralization of the epiphyseal plates. Rickets could be inherited or acquired. The acquired rick ... Read the Article 1.25 11 Activity MD/PA Activity DO
Rotor Syndrome Rotors syndrome, also known as Rotor type hyperbilirubinemia, is an autosomal recessive disease and a rare cause of mixed direct (conjugated) and indi ... Read the Article 1 7 Activity MD/PA Activity DO
Scleroderma And Primary Myocardial Disease Systemic scleroderma is a connective tissue disease that can affect internal organs. Cardiac manifestations of the disease can be a result of the prim ... Read the Article 1 11 Activity MD/PA Activity DO
Sebaceous Gland Carcinoma Sebaceous carcinomas are rare malignant tumors of the sebaceous glands. They most commonly develop on the eyelid, but may arise from anywhere sebaceou ... Read the Article 0.75 5 Activity MD/PA Activity DO
Sertoli-Cell-Only Syndrome Sertoli cell-only syndrome, also known as del Castillo syndrome or germ cell aplasia, typically occurs in males between the age of 20 and 40. In this ... Read the Article 0.75 5 Activity MD/PA Activity DO
Short Stature Short stature is defined as a condition in which the height of an individual is in the 3rd percentile for the mean height of a given age, sex, and pop ... Read the Article 0.75 5 Activity MD/PA Activity DO
Shwachman-Diamond Syndrome Schwachman-Diamond syndrome (SDS) is an autosomal recessive disorder that is the second most common cause of exocrine pancreatic insufficiency after c ... Read the Article 0.75 4 Activity MD/PA Activity DO
Single Ventricle A single ventricle is an uncommon occurrence in embryogenesis, which results in the anatomical or functional loss of a ventricular cavity. These malfo ... Read the Article 0.75 5 Activity MD/PA Activity DO
Small Cell Lung Cancer Lung cancer is the second most diagnosed cancer in the United States. It is the leading cause of cancer death in both men and women, accounting for ap ... Read the Article 1 8 Activity MD/PA Activity DO
Sodium Oxybate Sodium oxybate is a medication used in the management and treatment of narcolepsy with cataplexy or excessive daytime sleepiness. It is a Central Nerv ... Read the Article 0.75 6 Activity MD/PA Activity DO
Soft Tissue Clear Cell Sarcoma Clear cell sarcoma of soft tissue (CCSST) is an exceedingly rare tumor that originates from neural crest cells and is histologically characterized by ... Read the Article 0.75 6 Activity MD/PA Activity DO
Somatostatinoma Somatostatinoma is a rare neuroendocrine tumor (NET) with an incidence of 1 in 40 million individuals and accounts for less than 5% of pancreatic NETs ... Read the Article 0.75 5 Activity MD/PA Activity DO
Spiradenoma Spiradenomas are well-differentiated, benign, dermal neoplasms originating from the sweat glands. Most spiradenomas occur between the ages of 15 to 35 ... Read the Article 0.75 4 Activity MD/PA Activity DO
Splenic Sequestration Crisis Young children with sickle cell anemia are at risk for acute splenic sequestration crises. These occur when an excessive amount of blood becomes trapp ... Read the Article 0.75 6 Activity MD/PA Activity DO
Sports Physicals This activity covering the “sports physical,” otherwise referred to as “preparticipation physical evaluation,” will discuss the purpose of the sports ... Read the Article 0.75 5 Activity MD/PA Activity DO
Steatorrhea The management of steatorrhea is complex and new approaches have been introduced. To achieve satisfactory outcomes, the basic and clinical aspects of ... Read the Article 1 6 Activity MD/PA Activity DO
Stevens Johnson Syndrome Stevens-Johnson syndrome and toxic epidermal necrolysis are acute, rare and potentially fatal skin reactions involving loss of skin and in some cases ... Read the Article 1.25 15 Activity MD/PA Activity DO
Subacute Necrotizing Encephalomyelopathy Subacute necrotizing encephalomyelopathy (SNE) is primarily a disease of childhood that affects the central nervous system. This is a rare condition t ... Read the Article 1 12 Activity MD/PA Activity DO
Succinic Semialdehyde Dehydrogenase Deficiency Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive-inherited inborn error of metabolism with rare occurrence. Although i ... Read the Article 0.75 6 Activity MD/PA Activity DO
Sudden Infant Death Syndrome Sudden infant death syndrome (SIDS) is the abrupt and unexplained death of an infant less than 1-year old. Despite a thorough investigation (a careful ... Read the Article 1 10 Activity MD/PA Activity DO
Syndactyly Syndactyly is one of the most common congenital anomalies of the extremities. It is a failure of differentiation of the digits, defined as a fusion of ... Read the Article 0.75 5 Activity MD/PA Activity DO
Syndromic Sensorineural Hearing Loss Congenital hearing loss affects 1 to 3 per 1000 newborns. For many children born with hearing loss, it is an isolated finding known as a non-syndromic ... Read the Article 0.75 5 Activity MD/PA Activity DO
T Cell Prolymphocytic Leukemia T-PLL (T Prolymphocytic leukemia) is mature and aggressive T-cell leukemias characterized by the proliferation of small to medium-sized prolymphocytes ... Read the Article 0.75 5 Activity MD/PA Activity DO
Tangier Disease Tangier disease occurs due to the accumulation of cholesterol esters within a body organ. This activity outlines the evaluation and management of it a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Thrombin Thrombin is a topical hemostatic agent used to control and minimize blood loss during surgical procedures, is utilized in conjunction or as an alterna ... Read the Article 1 7 Activity MD/PA Activity DO
Thyroxine-Binding Globulin Deficiency Thyroxine-binding globulin deficiency is a disorder that can often be misdiagnosed based on an inaccurate interpretation of thyroid hormone labs; this ... Read the Article 0.75 6 Activity MD/PA Activity DO
Trinucleotide Repeat Disorders Trinucleotide repeat disorders are neuropsychiatric disorders caused due to abnormal trinucleotide repeat expansions. Accurate diagnosis, with knowled ... Read the Article 1 5 Activity MD/PA Activity DO
Trisomy 13 Trisomy 13 is a chromosomal aneuploidy characterized by meiotic nondisjunction. The phenotypic holoprosencephaly and midline fusion aberrancies are re ... Read the Article 0.75 6 Activity MD/PA Activity DO
Tropical Pulmonary Eosinophilia Tropical pulmonary eosinophilia (TPE) is a hyperresponsive pulmonary syndrome in response to trapped microfilariae within the lung tissue characterize ... Read the Article 0.75 6 Activity MD/PA Activity DO
Tubular Adenoma Colonic adenomas are raised protrusions of colonic mucosa, i.e., polyps formed by glandular tissue. Although a tumor of benign nature, these adenomas ... Read the Article 1 7 Activity MD/PA Activity DO
Tubular Breast Carcinoma Tubular carcinoma of the breast is a distinct, relatively rare low-grade neoplasm, accounting for approximately 1 to 2% of invasive breast cancers. It ... Read the Article 0.75 6 Activity MD/PA Activity DO
Turcot Syndrome Turcot syndrome is the association of primary brain tumors with colorectal cancer. Hereditary non-polyposis colorectal cancer (HNPCC) and familial ade ... Read the Article 1 7 Activity MD/PA Activity DO
Vaginal Cancer Vaginal cancer is an uncommon gynecologic malignancy. The diagnosis of primary vaginal cancer is rare because most of these lesions will be metastatic ... Read the Article 0.75 5 Activity MD/PA Activity DO
Vascular Ring Double Aortic Arch The term "vascular ring" refers to the vascular structures that encircle and compress the trachea and esophagus causing respiratory and gastrointestin ... Read the Article 1 7 Activity MD/PA Activity DO
Velocardiofacial Syndrome Velocardiofacial syndrome, also known as Di George syndrome or chromosome 22q11.2 syndrome, is the most common microdeletion syndrome in humans. Thoug ... Read the Article 0.75 4 Activity MD/PA Activity DO
Vemurafenib Vemurafenib is FDA-approved for metastatic and unrespectable melanoma with V600 mutation, and Erdheim- Chester disease (non-Langerhans histiocytic dis ... Read the Article 0.75 5 Activity MD/PA Activity DO
Vismodegib Initially approved in 2012, vismodegib is the first FDA-approved pharmacologic agent that targets the Hedgehog signaling pathway (sonic hedgehog, SHH) ... Read the Article 0.75 5 Activity MD/PA Activity DO
Vitamin B5 (Pantothenic Acid) Vitamin B5 is a medication used in the management and treatment of nutrient deficiencies. It is in the dietary supplement class of medications. This a ... Read the Article 0.75 5 Activity MD/PA Activity DO
Vohwinkel Syndrome Vohwinkel syndrome, also known as keratoderma hereditarian mutilans, is classified as a type of hereditary palmoplantar keratoderma (PPK). Classicall ... Read the Article 0.75 3 Activity MD/PA Activity DO
Waardenburg Syndrome Waardenburg syndrome is a group of genetic conditions inherited in an autosomal dominant fashion. During embryogenesis, there is an abnormal distribut ... Read the Article 0.75 6 Activity MD/PA Activity DO
Werdnig Hoffmann Disease Werdnig-Hoffmann disease is a type of spinal muscular atrophy (SMA). It is the most common type of SMA and accounts for about 80% of individuals with ... Read the Article 0.75 5 Activity MD/PA Activity DO
White Dot Syndromes The white dot syndromes constitute a group of inflammatory chorioretinopathies in which the common defining clinical feature is the presence of multip ... Read the Article 0.75 5 Activity MD/PA Activity DO
Williams Syndrome WS is a rare genetic disorder that presents with congenital heart disease, distinctive facial features (elfin-like faces), hypercalcemia, neurodevelop ... Read the Article 0.75 6 Activity MD/PA Activity DO
Wilms Tumor Wilms tumor, or nephroblastoma, is the most common pediatric renal cancer, the most common pediatric abdominal cancer, and the fourth most common pedi ... Read the Article 1.25 15 Activity MD/PA Activity DO
Wiskott-Aldrich Syndrome Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder which classically includes the characteristic triad of immunodeficiency, thrombocytopenia, ... Read the Article 1.25 13 Activity MD/PA Activity DO
Xeroderma Pigmentosum Xeroderma pigmentosum is a rare autosomal recessive genodermatosis that results due to mutations in nucleotide excision repair. The condition is chara ... Read the Article 0.75 4 Activity MD/PA Activity DO
Zellweger Syndrome Zellweger syndrome, also known as cerebrohepatorenal syndrome, is a rare inherited disorder characterized by the absence or reduction of functional pe ... Read the Article 0.75 5 Activity MD/PA Activity DO

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