Fasting tests of insulin secretion and sensitivity predict future prediabetes in Japanese with normal glucose tolerance.

Unlabelled: Aims/Introduction:  Reduced insulin sensitivity and secretion are important in the pathogenesis of type 2 diabetes. Their relationships to prediabetes, impaired glucose tolerance (IGT) and impaired fasting glucose (IFG) have been previously studied with the oral glucose tolerance test (OGTT). We investigated whether or not baseline measures of insulin secretion and sensitivity obtained from fasting blood specimens were related to the development of prediabetes and how these measures compared with those based on the OGTT.

Isolated hearing loss associated with T7511C mutation in mitochondrial DNA.

Conclusion: The T7511C mutation is considered responsible for maternally inherited, isolated sensorineural hearing loss of cochlear origin. This mutation should be screened for in cases of nonsyndromic, familial sensorineural hearing loss compatible with maternal transmission.

Objectives: To clarify the audiovestibular phenotype characteristics associated with a T7511C mutation in mitochondrial DNA and determine whether it causes isolated sensorineural hearing loss unaccompanied by other neuromuscular symptoms or signs.

Ototoxicity after use of neomycin eardrops is unrelated to A1555G point mutation in mitochondrial DNA.

Ear drops containing neomycin only rarely cause ototoxicity. The authors report on three patients with a tympanic membrane perforation who developed severe ototoxicity after use of eardrops containing 0.35 per cent neomycin.

A case showing an association between type 1 diabetes mellitus and Kabuki syndrome.

The case of a 31-year-old female suffering from type 1 diabetes mellitus (DM) and Kabuki syndrome is presented. The patient was diagnosed as having impaired glucose tolerance (IGT) at age 18; secondary amenorrhea occurred at age 20, following acute body weight loss. Extensive examination revealed the patient to have a slowly progressive form of type 1 DM and, based on the physical findings, including her facial features, she was diagnosed as also having congenital Kabuki syndrome.

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.

We investigated three families with maternally inherited deafness associated with a 1555 A-to-G substitution in the 12S ribosomal RNA gene. Probands in these families developed deafness following streptomycin treatment, whereas several family members who did not receive aminoglycoside showed onset of deafness in middle age. One proband had a non-synonymous A14062G mutation in the ND5 gene and the other had a non-synonymous G15221A mutation in the cytochrome b gene and a T1391C mutation in the 12S ribosomal RNA gene, whose importance in disease expression remains to be clarified.