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
SMA-LED
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles. Joint deformities (contractures) in the hips, knees, feet, and ankles can occur in SMA-LED, and in severe cases are present from birth and can impair walking. Some individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands. In most people with SMA-LED, the muscle problems are apparent in infancy or early childhood; however, about one-quarter of affected individuals do not develop muscle weakness until adulthood. The muscle weakness and related health problems typically do not worsen over time.
  • 1.1K
  • 23 Dec 2020
Topic Review
Chromosome 10
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type II
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 1.1K
  • 24 Dec 2020
Topic Review
Cytogenetic Variability in Festuca (Poaceae)
Polyploidy has played an important evolutionary role in the genus Festuca (Poaceae), and several ploidy levels (ranging from 2n = 2x = 14 to 2n = 12x = 84) have been detected to date. Our understanding of ploidy diversity has greatly improved over the last two decades owing to the usage of flow cytometry (FCM). This valuable method makes it possible to not only estimate the genome size in a large number of individuals and populations but also infer ploidy levels. FCM has been used successfully in Festuca and its use is very useful in detecting a possible overlooked cytogenetic diversity that is generally manifested in the morphological variability exhibited in some of its taxa.
  • 1.1K
  • 18 Feb 2022
Topic Review
ZMYM2 Gene
Zinc finger MYM-type containing 2
  • 1.1K
  • 24 Dec 2020
Topic Review
Chromosome 3
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 3, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.
  • 1.1K
  • 25 Dec 2020
Topic Review
Inherited Retinal Diseases' RPE65 Variants
RPE65 is involved in the visual cycle, a multi-step process through which light entering the eye is converted into electrical signals transmitted to the brain. The absence or alterations of RPE65 leads to vision loss. This article aims to review the evidence for the genetic basis of RPE65 related Inherited retinal diseases with a particular focus on the most appropriate approaches to molecular testing of patients that represent possible candidates for the RPE65-gene supplementation therapy.
  • 1.1K
  • 22 Sep 2021
Topic Review
PWS-Associated Genes, Their Imprinting, and Expression Pattern
Prader–Willi syndrome (PWS, OMIM #176270) and Schaaf–Yang syndrome (SYS, OMIM #615547) are rare autosomal-dominant, imprinted genetic disorders caused by the loss of one or more normally active paternal genes in the chromosomal region of 15q11-q13, called the PWS region.
  • 1.1K
  • 31 Aug 2023
Topic Review
X-linked Hyper IgM Syndrome
X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males.
  • 1.1K
  • 24 Dec 2020
Topic Review
Primary Macronodular Adrenal Hyperplasia
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by multiple lumps (nodules) in the adrenal glands, which are small hormone-producing glands located on top of each kidney. These nodules, which usually are found in both adrenal glands (bilateral) and vary in size, cause adrenal gland enlargement (hyperplasia) and result in the production of higher-than-normal levels of the hormone cortisol. Cortisol is an important hormone that suppresses inflammation and protects the body from physical stress such as infection or trauma through several mechanisms including raising blood sugar levels.
  • 1.1K
  • 24 Dec 2020
Topic Review
MMUT Gene
Methylmalonyl-CoA mutase
  • 1.1K
  • 04 Jan 2021
Topic Review
Bosma Arhinia Microphthalmia Syndrome
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized by abnormalities of the nose and eyes and problems with puberty.
  • 1.1K
  • 24 Dec 2020
Topic Review
Timothy Syndrome
Timothy syndrome is a rare disorder that primarily affects the heart but can affect many other areas of the body, including the fingers and toes, teeth, nervous system, and immune system.
  • 1.1K
  • 23 Dec 2020
Topic Review
Hereditary Angioedema
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway.
  • 1.1K
  • 23 Dec 2020
Topic Review
Duchenne and Becker Muscular Dystrophy
Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.
  • 1.1K
  • 24 Dec 2020
Topic Review
NCF2 Gene
neutrophil cytosolic factor 2
  • 1.1K
  • 23 Dec 2020
Topic Review
Pallister-Killian Mosaic Syndrome
Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.
  • 1.1K
  • 24 Dec 2020
Topic Review
DEPDC5 Gene
DEP Domain Containing 5
  • 1.1K
  • 24 Dec 2020
Topic Review
Angelman Syndrome
Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
  • 1.1K
  • 24 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