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Child displaying typical facial phenotype of Kabuki syndrome. Specific symptoms for Kabuki syndrome vary, with large differences between affected individuals. [3] Most people with Kabuki syndrome have distinctive facial features that include arched eyebrows, long eyelashes, elongated eyelids with lower lids that turn out, prominent ears, a flat tip of the nose and a downward slant to the mouth.
Fanconi syndrome or Fanconi's syndrome (English: / f ɑː n ˈ k oʊ n i /, / f æ n-/) is a syndrome of inadequate reabsorption in the proximal renal tubules [1] of the kidney.The syndrome can be caused by various underlying congenital or acquired diseases, by toxicity (for example, from toxic heavy metals), or by adverse drug reactions. [2]
Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. [2] It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the ...
The modification may also occur at other sites, [4] but methylation at either of these sites can repress gene expression by either interfering with the binding of transcription factors or modifying chromatin structure to a repressive state. [5] Disease condition studies have largely fueled the effort in understanding the role of DNA methylation.
Pyonephrosis (from Greek pyon 'pus' and nephros 'kidney' [1]) is a dangerous kidney infection that is characterized by pus accumulation in the renal collecting system. [2] It is linked to renal collecting system blockage and suppurative renal parenchymal destruction, which result in complete or nearly complete kidney failure. [3]
Kidney ischemia [1] is a disease with a high morbidity and mortality rate. [2] Blood vessels shrink and undergo apoptosis which results in poor blood flow in the kidneys. More complications happen when failure of the kidney functions result in toxicity in various parts of the body which may cause septic shock, hypovolemia, and a need for surgery. [3]
Initial diagnosis of infection can be made based on epidemiological information and symptoms. Confirmation of infection can be done by testing for hantavirus nucleic acid, proteins, or hantavirus-specific antibodies. Treatment of HFRS is supportive and depends on the phase of disease and clinical presentation.
Demethylases are enzymes that remove methyl (CH 3) groups from nucleic acids, proteins (particularly histones), and other molecules.Demethylases are important epigenetic proteins, as they are responsible for transcriptional regulation of the genome by controlling the methylation of DNA and histones, and by extension, the chromatin state at specific gene loci.