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Topic Review
Spastic Paraplegia Type 11
Spastic paraplegia type 11 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can affect the upper limbs to a lesser degree. Complex spastic paraplegias also affect the structure or functioning of the brain and the peripheral nervous system, which consists of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex hereditary spastic paraplegia.  
  • 1.0K
  • 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.
  • 1.0K
  • 24 Dec 2020
Topic Review
Myelodysplastic Syndromes (MDS)
Myelodysplastic syndromes (MDS) comprise a group of clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, one or more peripheral cytopenias, single or multilineage dysplasia in the bone marrow (BM), and an increased risk of progressing to acute myeloid leukemia (AML), occurring eventually in approximately 30% of the cases, more rapidly in higher risk patients.
  • 1.0K
  • 05 May 2021
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.
  • 1.0K
  • 23 Dec 2020
Topic Review
Nicolaides-Baraitser Syndrome
Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.
  • 1.0K
  • 24 Dec 2020
Topic Review
Microphthalmia
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small.
  • 1.0K
  • 23 Dec 2020
Topic Review
CAKUT
Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract. The additional parts of the urinary tract that may be affected include the bladder, the tubes that carry urine from each kidney to the bladder (the ureters), and the tube that carries urine from the bladder out of the body (the urethra). CAKUT results from abnormal development of the urinary system and is present from birth (congenital), although the abnormality may not become apparent until later in life.
  • 1.0K
  • 04 Jan 2021
Topic Review
NCF2 Gene
neutrophil cytosolic factor 2
  • 1.0K
  • 23 Dec 2020
Topic Review
22q11.2 Deletion Syndrome
22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.  
  • 1.0K
  • 23 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.
  • 1.0K
  • 25 Dec 2020
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.
  • 1.0K
  • 24 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.
  • 1.0K
  • 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.
  • 1.0K
  • 24 Dec 2020
Topic Review
Boucher-Neuhäuser Syndrome
Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.
  • 1.0K
  • 24 Dec 2020
Topic Review
PHEX Gene
phosphate regulating endopeptidase homolog X-linked
  • 1.0K
  • 25 Dec 2020
Topic Review
Tau Oligomers Neurotoxicity
Although the mechanisms of toxic activity of tau are not fully recognized, it is supposed that the tau toxicity is related rather not to insoluble tau aggregates but to its intermediate forms. It seems that neurofibrillar tangles (NFTs) themselves, despite being composed of toxic tau, are probably neither necessary nor sufficient for tau-induced neuronal dysfunction and toxicity. Tau oligomers (TauOs) formed during the early stages of tau aggregation are the pathological forms that play a key role in eliciting the loss of neurons and behavioral impairments in several neurodegenerative disorders called tauopathies. They can be found in tauopathic diseases, the most common of which is Alzheimer’s disease (AD). Evidence of co-occurrence of b-amyloid, α-synuclein, and tau into their most toxic forms, i.e., oligomers, suggests that these species interact and influence each other’s aggregation in several tauopathies. The mechanism responsible for oligomeric tau neurotoxicity is a subject of intensive investigation.
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  • 21 Jan 2021
Topic Review
The Oxytonic Contraction
The oxytonic contraction: in our model of cold stress, the extreme low temperature increases Oxytocin receptor (Oxtr) in PVN and at the tissue levels in the soleus muscle but drive the decrease of Oxytocin (Oxt) in plasma. The increase of Oxt in bone balance the decrease of plasmatic Oxt. This mechanism triggers the oxytonic contractions that potentiate the slow-twitch muscle to ensure the proper physical reaction to challenging situations.
  • 1.0K
  • 08 Feb 2021
Topic Review
DNA Assembly
Assembly of DNA-grafted 3D superlattice is composed of two pivotal elements: nanoparticles (NPs) core and DNA shell. The progress of chemical synthesis technique enables the chemical composition of NP core unrestricted; it can be metals, oxides, polymers, even biological molecule, which also allow for the integration of multiple functions like luminescent, catalytic, magnetic properties, and so on.
  • 1.0K
  • 28 Jul 2021
Topic Review
Burn-McKeown Syndrome
Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.
  • 1.0K
  • 24 Dec 2020
Topic Review
TRPM1 Gene
Transient receptor potential cation channel subfamily M member 1: The TRPM1 gene provides instructions for making a protein called transient receptor potential cation channel subfamily M member 1 (TRPM1). 
  • 1.0K
  • 25 Dec 2020
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