Your browser does not fully support modern features. Please upgrade for a smoother experience.
Subject:
All Disciplines Arts & Humanities Biology & Life Sciences Business & Economics Chemistry & Materials Science Computer Science & Mathematics Engineering Environmental & Earth Sciences Medicine & Pharmacology Physical Sciences Public Health & Healthcare Social Sciences
Sort by:
Most Viewed Latest Alphabetical (A-Z) Alphabetical (Z-A)
Filter:
All Topic Review Biography Peer Reviewed Entry Video Entry
Topic Review
Maternally Inherited Diabetes and Deafness
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin, which regulates the amount of sugar in the blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, although the age that they occur varies from childhood to late adulthood. Typically, hearing loss occurs before diabetes.
  • 882
  • 23 Dec 2020
Topic Review
Moebius Syndrome
Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.
  • 882
  • 23 Dec 2020
Topic Review
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
  • 882
  • 24 Dec 2020
Topic Review
BICD2 Gene
BICD cargo adaptor 2
  • 882
  • 24 Dec 2020
Topic Review
Farber Lipogranulomatosis
Farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints..
  • 882
  • 25 Dec 2020
Topic Review
PDHA1 Gene
pyruvate dehydrogenase E1 alpha 1 subunit
  • 882
  • 25 Dec 2020
Topic Review
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 881
  • 23 Dec 2020
Topic Review
APOB Gene
apolipoprotein B
  • 881
  • 24 Dec 2020
Topic Review
RYR2 Gene
ryanodine receptor 2
  • 881
  • 24 Dec 2020
Topic Review
Niemann–Pick Disease
Niemann–Pick Disease (NPD) is a rare autosomal recessive disease belonging to lysosomal storage disorders. Three types of NPD have been described: NPD type A, B, and C. NPD type A and B are caused by mutations in the gene SMPD1 coding for sphingomyelin phosphodiesterase 1, with a consequent lack of acid sphingomyelinase activity. These diseases have been thus classified as acid sphingomyelinase deficiencies (ASMDs). NPD type C is a neurologic disorder due to mutations in the genes NPC1 or NPC2, causing a defect of cholesterol trafficking and esterification. Although all three types of NPD can manifest with pulmonary involvement, lung disease occurs more frequently in NPD type B, typically with interstitial lung disease, recurrent pulmonary infections, and respiratory failure.
  • 881
  • 22 Feb 2024
Topic Review
Surfactant Dysfunction
Surfactant dysfunction is a lung disorder that causes breathing problems.
  • 880
  • 23 Dec 2020
Topic Review
Gilbert Syndrome
Gilbert syndrome is a relatively mild condition characterized by periods of elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia).
  • 880
  • 23 Dec 2020
Topic Review
Aicardi-Goutières Syndrome
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.
  • 880
  • 24 Dec 2020
Topic Review
ATM Gene
ATM serine/threonine kinase
  • 880
  • 24 Dec 2020
Topic Review
Autosomal Dominant Hyper-IgE Syndrome
Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, excessive inflammation can damage body tissues. Recurring pneumonia often results in the formation of air-filled cysts (pneumatoceles) in the lungs. Frequent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.
  • 880
  • 24 Dec 2020
Topic Review
GALC Gene
Galactosylceramidase: The GALC gene provides instructions for making an enzyme called galactosylceramidase. 
  • 880
  • 25 Dec 2020
Topic Review
Genotype-Phenotype Correlations
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, and SOX4.
  • 880
  • 19 Jul 2021
Topic Review
Current Mammalian Models of Alzheimer’s Disease
Alzheimer’s disease (AD) is one of the looming health crises of the near future. Increasing lifespans and better medical treatment for other conditions mean that the prevalence of this disease is expected to triple by 2050. The impact of AD includes both the large toll on individuals and their families as well as a large financial cost to society. So far, we have no way to prevent, slow, or cure the disease. Current medications can only alleviate some of the symptoms temporarily. Many animal models of AD have been created, with the first transgenic mouse model in 1995. Mouse models have been beset by challenges, and no mouse model fully captures the symptomatology of AD without multiple genetic mutations and/or transgenes, some of which have never been implicated in human AD. Over 25 years later, many mouse models have been given an AD-like disease and then ‘cured’ in the lab, only for the treatments to fail in clinical trials.
  • 880
  • 23 Dec 2021
Topic Review
Mitochondrial Microproteins in Athletic Performance and Age-Related Diseases
Mitochondrial microproteins (also called mitochondrial-derived peptides) are novel small proteins encoded in the mitochondrial DNA and modulate athletic performance and age-related diseases.
  • 880
  • 03 Feb 2023
Topic Review
Erythromelalgia
Erythromelalgia is a condition characterized by episodes of pain, redness, and swelling in various parts of the body, particularly the hands and feet. These episodes are usually triggered by increased body temperature, which may be caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a pain episode so debilitating that it can impede everyday activities such as wearing shoes and walking. Pain episodes can prevent an affected person from going to school or work regularly.
  • 880
  • 25 Dec 2020
  • Page
  • of
  • 135
Featured Entry Collections
>>

Featured Reprints

>>
Encyclopedia of Digital Society, Industry 5.0 and Smart City
Encyclopedia of Engineering
Encyclopedia of Social Sciences
Encyclopedia of Medieval Royal Iconography
Academic Video Service
Feedback