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Familial Mediterranean fever. Familial Mediterranean fever has an autosomal recessive pattern of inheritance. Specialty. Rheumatology, Immunology. Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. [1]: 149 FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid ...
Chills. Fever. Paresthesia (numbness, tingling, electric tweaks) Light-headed. Dizzy. Dizzy – about to black out. Dizzy – with the room spinning around me. My mouth is dry. Nauseated.
A depsipeptide is a peptide in which one or more of its amide, -C (O)NHR-, groups are replaced by the corresponding ester, -C (O)OR-. [1] Many depsipeptides have both peptide and ester linkages. [2] Elimination of the N–H group in a peptide structure results in a decrease of H-bonding capability, which is responsible for secondary structure ...
Schilder disease or diffuse myelinoclastic sclerosis: is a rare disease that presents clinically as a pseudotumoural demyelinating lesion; and is more common in children. [56] [57] Solitary sclerosis: This variant was proposed (2012) by Mayo Clinic researchers. [58] though it was also reported by other groups more or less at the same time.
Abdominal migraine. Abdominal migraine (AM) is a functional disorder that usually manifests in childhood and adolescence, without a clear pathologic mechanism or biochemical irregularity. Children frequently experience sporadic episodes of excruciating central abdominal pain accompanied by migrainous symptoms like nausea, vomiting, severe ...
Cyclic neutropenia (CyN), like severe congenital neutropenia (SCN), is a rare disorder. It is considered that in the general population, CyN has a frequency of one in one million. [1] It is the result of autosomal dominant mutation in ELANE gene located on the short arm (p) of chromosome 19 (19p13.3), the gene encoding neutrophil elastase ...
Cyclic peptides are polypeptide chains which contain a circular sequence of bonds. [1] This can be through a connection between the amino and carboxyl ends of the peptide, for example in cyclosporin; a connection between the amino end and a side chain, for example in bacitracin; the carboxyl end and a side chain, for example in colistin; or two ...
ROHHAD. Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare condition whose etiology is currently unknown. [1] ROHHAD mainly affects the endocrine system and autonomic nervous system, but patients can exhibit a variety of signs. Patients present with both alveolar hypoventilation ...