The chromokinesin Kid is important in chromosome alignment at the metaphase plate. Here, we report that Kid function is regulated by phosphorylation. We identify Ser427 and Thr463 as M phase-specific phosphorylation sites and Cdc2-cyclin B as a Thr463 kinase. Kid with a Thr463 to alanine mutation fails to be localized on chromosomes and is only detected along spindles, although it retains the a...

The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, caused inactivating heterozygous germline mutations in the GATA3 gene. We report an 11-year-old girl with mutation located at splice acceptor site of exon 5 gene (NM_001002295.2: c.925-1G>T). Functional studies using minigene assay showed that this abolished normal s...

We report a case of arthritis of the temporomandibular joint (TMJ) associated with sclerosing osteomyelitis of the mandible and temporal bone, causing deafness. The presence of a palmoplantar pustulosis established the diagnosis of SAPHO syndrome. SAPHO (an acronym referring to synovitis, acne, palmoplantar pustulosis, hyperostosis, and osteitis) syndrome is defined by the association of charac...

abstract- the syndrome of diabetes mellitus, sensorineural deafness and megaloblastic anemia dose not result from thiamine deficiency. the previous reported patients had no sign of beriberi, had normal nutrition, and had no evidence of malabsorption. the features of this syndrome with apparent inheritance of autosomal recessive trait may define this puzzling syndrome as a true thiamine dependen...

Two brothers with DIDMOAD syndrome are reported. The older brother has diabetes mellitus (type I), diabetes insipidus, optic atrophy, deafness and atonia of the urinary tract with severe symptoms such as diabetic ketoacidosis and frequent urinary tract infections. His younger brother had the same manifestations but with less severity. We report the findings of our two patients and compare ...

Vaughan Pendred, whilst still a junior doctor, wrote the original account of familial sensorineural deafness associated with goitre, now known as Pendred's syndrome. His account is reproduced verbatim.

Different kids grow up in different environments. Imagine Kid A: she gets to play and talk with her parents a lot, she has a yummy dinner every night with her family, she gets to travel on airplanes, and she has lots of books in her bedroom. Now imagine Kid B: his parents are really busy, he does not play or talk with grownups very much, he watches TV a lot, he does not get to eat much healthy ...

DOOR syndrome is a rare multisystem genetic disorder, consisting of deafness (sensorineural), onychodystrophy, osteodystrophy, and mental retardation. Seizures reported frequently in this condition are often refractory to treatment.