BACKGROUND Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities ...

B-methylated ligand [MeB(3-(C2F5)Pz)3]-enables the isolation of a lithium adduct [MeB(3-(C2F5)Pz)3]Li with fac-N3F3 coordination, and rare isolable silver carbon monoxide and silver ethylene complexes, [MeB(3-(C2F5)Pz)3]AgCO and [MeB(3-(C2F5)Pz)3]AgC2H4.

BACKGROUND Middle-ear barotrauma (MEB) is one of the most common side effects of hyperbaric oxygen therapy (HBO2). The incidence of MEB has been shown to vary between treatment centers and patients. This study was aimed to determine which patients are at high risk of MEB. MATERIALS AND METHODS Prospective study including all the patients treated in a multiplace HBO2 chamber between January an...

The 1 : 1 reaction of 3,5-dimethyl-1,2,4,3,5-trithiadiborolane, 3, with dimethylamine in diethyl ether yielded a mixture of compounds from which only MeB(NMe2)SH, 7, could be separated. In the 1:2 reaction, insoluble Me2NH(MeB(S2)2BMe)HNMe2, 10, could be isolated besides 7 and small amounts of MeB(NMe2)2. In the presence of NMe3 the bis(methyl-dimethylamino-boryl)sulfide, 7 was obtained in good...

Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more su...

1,3-Butadiene is a carcinogen in rodents, but its potential carcinogenicity to humans remains controversial. Numerous studies have shown that butadiene and its metabolites cause sister chromatid exchanges in vitro and in vivo. To test for other types of genotoxicity, the micronucleus assay and fluorescence in situ hybridization (FISH) have been used to detect chromosome damage in human lymphocy...

Comment. Both MEB disease and Walker-Warburg syndrome have underlying deficiencies in posttranslational glycosylation of -dystroglycan that lead to severe defects in organogenesis and neuronal migration. Brain and eye phenotypes in MEB disease and WalkerWarburg syndrome likely involve defective glycosylation in proteins other than -dystroglycan since chimeric mice deficient in -dystroglycan dev...

A new simple, rapid and sensitive reversed-phase liquid chromatographic method was developed and validated for the simultaneous determination of sulpiride (SUL) and mebeverine Hydrochloride (MEB) in the presence of their impurities and degradation products. The separation of these compounds was achieved within 6 min on a 250 mm, 4.6 mm i.d., 5 m particle size Waters®-C18 column using isocractic...

Muscle-eye-brain disease (MEB) and Walker Warburg Syndrome (WWS) belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-translational modification. Here, we provide evidence that mutations in a gene codi...

BACKGROUND Muscle-eye-brain disease (MEB) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities, and type II lissencephaly. Previous reports of brain abnormalities on magnetic resonance images (MRIs) in MEB have been in children older than 1 year. OBJECTIVE To describe serial antenatal and postnatal brain MRIs in a child with MEB. ...