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Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The affected individuals have low levels of plasmalogens. Signs and symptoms Rhizomelic chondrodysplasia punctata has the following symptoms: * Bilateral shortening of the femur * Post-natal growth problems (deficiency) * Cataracts * Intellectual disability * Possible seizures * Possible infections of respiratory tract Genetics This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner. Pathophysiology The mechanism of rhizomelic chondrodysplasia punctata in the case of ''type 1'' of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly. There are 3 pathways that ''count on'' PEX7 and are: :::: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plasmalogens
Glycerophospholipids of biochemical relevance are divided into three subclasses based on the substitution present at the sn-1 position of the glycerol backbone: acyl, alkyl and alkenyl. Of these, the alkyl and alkenyl moiety in each case form an ether bond, which makes for two types of ether phospholipids, plasmanyl (alkyl moiety at sn-1), and plasmenyl (alkenyl moiety with vinyl ether linkage at sn-1). Plasmalogens are plasmenyls with an ester (acyl group) linked lipid at the sn-2 position of the glycerol backbone, chemically designated 1-0(1Z-alkenyl)-2-acyl-glycerophospholipids. The lipid attached to the vinyl ether at sn-1 can be C16:0, C18:0, or C18:1 (saturated and monounsaturated), and the lipid attached to the acyl group at sn-2 can be C22:6 ω-3 (docosahexaenoic acid) or C20:4 ω-6 (arachidonic acid), (both are polyunsaturated acids). Plasmalogens are classified according to their head group, mainly as PC plasmalogens (plasmenylcholines) and PE plasmalogens (plasmenylethal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxisomal Disorder
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by ''PEX'' genes that are critical for normal peroxisome assembly and biogenesis. Peroxisome biogenesis disorders Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. PBD-ZSD is most commonly caused by mutations in the ''PEX1'', ''PEX6'', ''PEX10'', ''PEX12'', and ''PEX26'' genes. This results in the over-accumulation of very long chain fatt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Plasmalogen
Glycerophospholipids of biochemical relevance are divided into three subclasses based on the substitution present at the sn-1 position of the glycerol backbone: acyl, alkyl and alkenyl. Of these, the alkyl and alkenyl moiety in each case form an ether bond, which makes for two types of ether phospholipids, plasmanyl (alkyl moiety at sn-1), and plasmenyl (alkenyl moiety with vinyl ether linkage at sn-1). Plasmalogens are plasmenyls with an ester (acyl group) linked lipid at the sn-2 position of the glycerol backbone, chemically designated 1-0(1Z-alkenyl)-2-acyl-glycerophospholipids. The lipid attached to the vinyl ether at sn-1 can be C16:0, C18:0, or C18:1 (saturated and monounsaturated), and the lipid attached to the acyl group at sn-2 can be C22:6 ω-3 (docosahexaenoic acid) or C20:4 ω-6 (arachidonic acid), (both are polyunsaturated acids). Plasmalogens are classified according to their head group, mainly as PC plasmalogens (plasmenylcholines) and PE plasmalogens (plasmenyletha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orthopedic
Orthopedic surgery or orthopedics ( alternatively spelt orthopaedics), is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, sports injuries, degenerative diseases, infections, tumors, and congenital disorders. Etymology Nicholas Andry coined the word in French as ', derived from the Ancient Greek words ὀρθός ''orthos'' ("correct", "straight") and παιδίον ''paidion'' ("child"), and published ''Orthopedie'' (translated as ''Orthopædia: Or the Art of Correcting and Preventing Deformities in Children'') in 1741. The word was assimilated into English as ''orthopædics''; the ligature ''æ'' was common in that era for ''ae'' in Greek- and Latin-based words. As the name implies, the discipline was initially developed with attention to children, but the correction of spinal and bone deformities in all stages of life eventually ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Physical Therapy
Physical therapy (PT), also known as physiotherapy, is one of the allied health professions. It is provided by physical therapists who promote, maintain, or restore health through physical examination, diagnosis, management, prognosis, patient education, physical intervention, rehabilitation, disease prevention, and health promotion. Physical therapists are known as physiotherapists in many countries. In addition to clinical practice, other aspects of physical therapist practice include research, education, consultation, and health administration. Physical therapy is provided as a primary care treatment or alongside, or in conjunction with, other medical services. In some jurisdictions, such as the United Kingdom, physical therapists have the authority to prescribe medication. Overview Physical therapy addresses the illnesses or injuries that limit a person's abilities to move and perform functional activities in their daily lives. PTs use an individual's history and physic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DHAPAT
Glyceronephosphate O-acyltransferase is an enzyme associated with Rhizomelic chondrodysplasia punctata type 2. GNPAT is located on chromosome 1 on the plus strand. The gene C1orf131 is located directly upstream of it, and the closest downstream gene is EXOC8 Exocyst complex component 8 is a protein that in humans is encoded by the ''EXOC8'' gene. Interactions EXOC8 has been shown to interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) .... References External links * EC 2.3.1 {{2.3-enzyme-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxisome Biogenesis Disorders
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by ''PEX'' genes that are critical for normal peroxisome assembly and biogenesis. Peroxisome biogenesis disorders Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy often refers to retinal vascular disease, or damage to the retina caused b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radiography
Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeutic") and industrial radiography. Similar techniques are used in airport security (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and is projected toward the object. A certain amount of the X-rays or other radiation is absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning) an X-ray source and its associated detectors rotate around the su ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Testing
Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure. Genetic testing can also include measuring the results of genetic changes, such as RNA analysis as an output of gene expression, or through biochemical analysis to measure specific protein output. In a medical setting, genetic testing can be used to diagnose or rule out suspected genetic disorders, predict risks for specific conditions, or gain information that can be used to customize medical treatments based on an individual's genetic makeup. Genetic testing can also be used to determine biological relatives, such as a child's biological parentage (genetic mother and father) through DNA paternity testing, or be used to broadly predict an individual's ancestry. Genetic testing of plants and animals can be used for similar reasons as in humans (e.g. to assess relatedness/ancestry or predict/diagnose genetic disorders), to gain information used for selective breeding, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxisome
A peroxisome () is a membrane-bound organelle, a type of microbody, found in the cytoplasm of virtually all eukaryotic cells. Peroxisomes are oxidative organelles. Frequently, molecular oxygen serves as a co-substrate, from which hydrogen peroxide (H2O2) is then formed. Peroxisomes owe their name to hydrogen peroxide generating and scavenging activities. They perform key roles in lipid metabolism and the conversion of reactive oxygen species. Peroxisomes are involved in the catabolism of very long chain fatty acids, branched chain fatty acids, bile acid intermediates (in the liver), D-amino acids, and polyamines, the reduction of reactive oxygen species – specifically hydrogen peroxide – and the biosynthesis of plasmalogens, i.e., ether phospholipids critical for the normal function of mammalian brains and lungs. They also contain approximately 10% of the total activity of two enzymes (Glucose-6-phosphate dehydrogenase and 6-Phosphogluconate dehydrogenase) in the pentose ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ACAA1
3-Ketoacyl-CoA thiolase, peroxisomal also known as acetyl-Coenzyme A acyltransferase 1 is an enzyme that in humans is encoded by the ''ACAA1'' gene. Acetyl-Coenzyme A acyltransferase 1 is an acetyl-CoA C-acyltransferase enzyme. Function This gene encodes an enzyme operative in the beta oxidation system of the peroxisomes. Clinical significance Deficiency of this enzyme leads to pseudo-Zellweger syndrome Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies .... References External links * Further reading * * * * * * * * * * * * * * * * Human proteins {{gene-3-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
