Effects of cholera toxin on cochlear endolymph production: model for endolymphatic hydrops.

To evaluate a possible role for adenylate cyclase [ATP pyrophosphate-lyase (cyclizing), EC 4.6.1.1] and adenosine 3':5'-cyclic monophosphate in the secretion of endolymph, we studied the effect of an intra-scala media injection of purified cholera toxin (an adenylate cyclase stimulant) on cochlear endolymph volume, endolymphatic potential, and endolymphatic Na and K concentrations.     

在一些地区开展新生儿听力普遍筛查的挑战

1背景 新生儿听力普遍筛查(universal neonatal hearing screening,UNHS)是早期发现听力损失的有效手段.一些发达国家,如美国,澳大利亚和英国等,已经或正在建立新生儿听力普遍筛查项目.有许多研究报道了开展该项目可能获得的效益[1～3],但是关于该项目在发展中国家可行性的报道却很少[4,5].     

The effects of preterm birth on visual development

Children born very preterm are at a greater risk of abnormal visual and neurological development when compared to children born at full term. Preterm birth is associated with retinopathy of prematurity (a proliferative retinal vascular disease) and can also affect the development of brain structures associated with post‐retinal processing of visual information. Visual deficits common in children born preterm, such as reduced visual acuity, strabismus, abnormal stereopsis and refractive error, are likely to be detected through childhood vision screening programs, ophthalmological follow‐up or optometric care. However, routine screening may not detect other vision problems, such as reduced visual fields, impaired contrast sensitivity and deficits in cortical visual processing, that may occur in children born preterm. For example, visual functions associated with the dorsal visual processing stream, such as global motion perception and visuomotor integration, may be impaired by preterm birth. These impairments can continue into adolescence and adulthood and may contribute to the difficulties in learning (particularly reading and mathematics), attention, behaviour and cognition that some children born preterm experience. Improvements in understanding the mechanisms by which preterm birth affects vision will inform future screening and interventions for children born preterm.     

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews

Familial hyperinsulinism (HI) is a disorder of pancreatic beta-cell function characterized by persistent hyperinsulinism despite severe hypoglycemia. To define the molecular genetic basis of HI in Ashkenazi Jews, 25 probands were screened for mutations in the sulfonylurea receptor (SUR1) gene by single-strand conformation polymorphism (SSCP) analysis of genomic DNA and subsequent nucleotide sequence analyses. Two common mutations were identified: (I) a novel in-frame deletion of three nucleotides (nt) in exon 34, resulting in deletion of the codon for F1388 (delta F1388) and (II) a previously described g-->a transition at position-9 of the 3' splice site of intron 32 (designated 3992-9g-->a). Together, these mutations are associated with 88% of the HI chromosomes of the patients studied. 86Rb+ efflux measurements of COSm6 cells co-expressing Kir6.2 and either wild-type or delta F1388 SUR1 revealed that the F1388 mutation abolished ATP-sensitive potassium channel (KATP) activity in intact cells. Extended haplotype analyses indicated that the delta F1388 mutation was associated with a single specific haplotype whereas the 3992-9g-->a mutation was primarily associated with a single haplotype but also occurred in the context of several other different haplotypes. These data suggest that HI in Ashkenazi Jews is predominantly associated with mutations in the SUR1 gene and provide evidence for the existence of at least two founder HI chromosomes in this population.