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Familial Dysautonomia
Familial dysautonomia (FD), also known as Riley-Day Syndrome, is a rare, progressive, recessive genetic disorder of the autonomic nervous system that affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system. FD results in variable symptoms, including insensitivity to pain, inability to produce tears, poor growth and labile blood pressure (episodic hypertension and postural hypotension). People with FD have frequent vomiting crises, pneumonia, problems with speech and movement, difficulty swallowing, inappropriate perception of heat, pain and taste as well as unstable blood pressure and gastrointestinal dysmotility. Originally reported by Drs. Conrad Milton Riley and Richard Lawrence Day in 1949, FD is one example of a group of disorders known as hereditary sensory and autonomic neuropathies ( HSAN). All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction cau ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hereditary Sensory And Autonomic Neuropathy
Hereditary sensory and autonomic neuropathy (HSAN) or hereditary sensory neuropathy (HSN) is a condition used to describe any of the types of this disease which inhibit sensation. They are less common than Charcot-Marie-Tooth disease. Classification Eight different clinical entities have been described under hereditary sensory and autonomic neuropathies – all characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Their incidence has been estimated to be about 1 in 250,000. Type 1 Hereditary sensory neuropathy type 1 is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alacrima
Alacrima refers to an abnormality in tear production that could mean reduced tear production or absent tear production. Because a lack of tears presents in only in a few rare disorders, it aids in diagnosis of these disorders, including Triple-A syndrome and NGLY1 deficiency. Alacrima can be formally diagnosed through a Schirmer's test Schirmer's test determines whether the eye produces enough tears to keep it moist. This test is used when a person experiences very dry eyes or excessive watering of the eyes. It poses no risk to the subject. A negative (more than 10 mm of moi .... References External links Disorders of conjunctiva {{symptom-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Exon
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence in RNA transcripts. In RNA splicing, introns are removed and exons are covalently joined to one another as part of generating the mature RNA. Just as the entire set of genes for a species constitutes the genome, the entire set of exons constitutes the exome. History The term ''exon'' derives from the expressed region and was coined by American biochemist Walter Gilbert in 1978: "The notion of the cistron… must be replaced by that of a transcription unit containing regions which will be lost from the mature messengerwhich I suggest we call introns (for intragenic regions)alternating with regions which will be expressedexons." This definition was originally made for protein-coding transcripts that are spliced before being translate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intron
An intron is any Nucleic acid sequence, nucleotide sequence within a gene that is not expressed or operative in the final RNA product. The word ''intron'' is derived from the term ''intragenic region'', i.e. a region inside a gene."The notion of the cistron [i.e., gene] ... must be replaced by that of a transcription unit containing regions which will be lost from the mature messenger – which I suggest we call introns (for intragenic regions) – alternating with regions which will be expressed – exons." (Gilbert 1978) The term ''intron'' refers to both the DNA sequence within a gene and the corresponding RNA sequence in RNA Transcription (genetics), transcripts. The non-intron sequences that become joined by this RNA processing to form the mature RNA are called exons. Introns are found in the genes of most organisms and many viruses and they can be located in both protein-coding genes and genes that function as RNA (noncoding genes). There are four main types of introns: tRN ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IKAP Protein
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a human gene encoding the IKAP protein, which is ubiquitously expressed at varying levels in all tissue types, including brain cells. The IKAP protein is thought to participate as a sub-unit in the assembly of a six-protein putative human holo-Elongator complex, which allows for transcriptional elongation by RNA polymerase II. Further evidence has implicated the IKAP protein as being critical in neuronal development, and directs that decreased expression of IKAP in certain cell types is the molecular basis for the severe, neurodevelopmental disorder familial dysautonomia. Other pathways that have been connected to IKAP protein function in a variety of organisms include tRNA modification, cell motility, and cytosolic stress signalling. Homologs of the IKBKAP gene have been identified in multiple other Eukaryotic model organisms. Notable homologs include Elp1 in yeast, Ikbkap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 9
Chromosome 9 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome, as they normally do with all chromosomes. Chromosome 9 spans about 138 million base pairs of nucleic acids (the building blocks of DNA) and represents between 4.0 and 4.5% of the total DNA in cells. Genes Number of genes These are some of the gene count estimates of human chromosome 9. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 9. For a complete list, see the link in the infobox on the right. Diseases and disorders The follo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IKBKAP
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a human gene encoding the IKAP protein, which is ubiquitously expressed at varying levels in all tissue types, including brain cells. The IKAP protein is thought to participate as a sub-unit in the assembly of a six-protein putative human holo-Elongator complex, which allows for transcriptional elongation by RNA polymerase II. Further evidence has implicated the IKAP protein as being critical in neuronal development, and directs that decreased expression of IKAP in certain cell types is the molecular basis for the severe, neurodevelopmental disorder familial dysautonomia. Other pathways that have been connected to IKAP protein function in a variety of organisms include tRNA modification, cell motility, and cytosolic stress signalling. Homologs of the IKBKAP gene have been identified in multiple other Eukaryotic model organisms. Notable homologs include Elp1 in yeast, Ikbkap ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthostatic Hypotension
Orthostatic hypotension, also known as postural hypotension, is a medical condition wherein a person's blood pressure drops when standing up or sitting down. Primary orthostatic hypertension is also often referred to as neurogenic orthostatic hypotension. The drop in blood pressure may be sudden (vasovagal orthostatic hypotension), within 3 minutes (classic orthostatic hypotension) or gradual (delayed orthostatic hypotension). It is defined as a fall in systolic blood pressure of at least 20 mmHg or diastolic blood pressure of at least 10 mmHg when a person assumes a standing position. It occurs predominantly by delayed (or absent) constriction of the lower body blood vessels, which is normally required to maintain adequate blood pressure when changing the position to standing. As a result, blood pools in the blood vessels of the legs for a longer period, and less is returned to the heart, thereby leading to a reduced cardiac output and inadequate blood flow to the brain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nocturnal Enuresis
Nocturnal enuresis, also informally called bedwetting, is involuntary urination while asleep after the age at which bladder control usually begins. Bedwetting in children and adults can result in emotional stress. Complications can include urinary tract infections. Most bedwetting is a developmental delay—not an emotional problem or physical illness. Only a small percentage (5 to 10%) of bedwetting cases have a specific medical cause. Bedwetting is commonly associated with a family history of the condition. Nocturnal enuresis is considered ''primary'' when a child has not yet had a prolonged period of being dry. ''Secondary'' nocturnal enuresis is when a child or adult begins wetting again after having stayed dry. Treatments range from behavioral therapy, such as bedwetting alarms, to medication, such as hormone replacement, and even surgery such as urethral dilatation. Since most bedwetting is simply a developmental delay, most treatment plans aim to protect or improve s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kyphoscoliosis Hereditary Sensory Autonomic Neuropathy III
Kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis. This musculoskeletal disorder often leads to other issues in patients, such as under-ventilation of lungs, pulmonary hypertension, difficulty in performing day-to-day activities, psychological issues emanating from anxiety about acceptance among peers, especially in young patients. It can also be seen in syringomyelia, Friedreich's ataxia, spina bifida, kyphoscoliotic Ehlers–Danlos syndrome (kEDS), and Duchenne muscular dystrophy due to asymmetric weakening of the paraspinal muscles. Signs and symptoms The following are clear signs of Kyphoscoliosis: * Abnormal hunch along with a presence of S or C-like shape. * * Presence of associated disorders like hypertension, neurological disorders * Abnormal gait Kyphosis Kyphosis by itself refers to an excessive convex curvature of the spine occurring in the thoracic and sacral regions. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyanosis
Cyanosis is the change of body tissue color to a bluish-purple hue as a result of having decreased amounts of oxygen bound to the hemoglobin in the red blood cells of the capillary bed. Body tissues that show cyanosis are usually in locations where the skin is thinner, including the mucous membranes, lips, nail beds, and ear lobes. Some medications containing amiodarone or silver, Mongolian spots, large birth marks, and the consumption of food products with blue or purple dyes can also result in the bluish skin tissue discoloration and may be mistaken for cyanosis. Cyanosis is further classified into central cyanosis vs. peripheral cyanosis. Pathophysiology The mechanism behind cyanosis is different depending on whether it is central or peripheral. Central cyanosis Central cyanosis is caused by a decrease in arterial oxygen saturation (SaO2) and begins to show once the concentration of deoxyhemoglobin in the blood reaches a concentration of ≥ 5.0 g/dL (≥ 3.1 mmol/ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Breech Presentation
A breech birth is when a baby is born bottom first instead of head first, as is normal. Around 3–5% of pregnant women at term (37–40 weeks pregnant) have a breech baby. Due to their higher than average rate of possible complications for the baby, breech births are generally considered higher risk. Breech births also occur in many other mammals such as dogs and horses, see veterinary obstetrics. Most babies in the breech position are delivered via caesarean section because it is seen as safer than being born vaginally. Doctors and midwives in the developing world often lack many of the skills required to safely assist women giving birth to a breech baby vaginally. Also, delivering all breech babies by caesarean section in developing countries is difficult to implement as there are not always resources available to provide this service. OB-GYNs do not recommend home births if a breech birth is expected, even when attended by a medical professional. Cause With regard to the f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
