Predictive testing for Huntington's disease: I. Predictors of uptake in South Wales

In Wales, predictive testing for Huntington's disease (HD) has not been offered proactively to families and uptake of testing is low in comparison to other centres. Little is known of those not requesting testing, particularly those not in direct contact with the genetics service. This study examined differences between a cohort of 22 test applicants and a random group of 32 'non-requesters', drawn from the South Wales HD register. Respondents were interviewed by means of a semi-structured schedule in their own homes. The study groups differed significantly on a number of variables including: knowledge of the availability of testing; perceived attitudes of family members and significant others to testing; length of knowledge and perceived stressfulness of being at risk; and perceived ability to cope with an unfavourable result. Overall, knowledge of testing procedures was poor and at-risk individuals' understanding of genetic terminology was at odds with scientific distinctions. Discussion focuses on the organisational and psychological factors associated with lack of knowledge of the availability of testing and the interpretation of reported coping capacities.     

大,巨型垂体腺瘤的手术入路选择

自１９９０年以来收治直径在２－５．６ｃｍ的大、巨型垂体腺瘤３３例。依肿瘤生长形态与扩展范围将其简略分为三种类型。Ａ型：瘤体位于鞍内或侵入蝶窦；Ｂ型；瘤体呈椭圆形或哑铃向鞍上扩展，三脑室明显移位抬高；Ｃ型：瘤体巨大侵入三脑室阻塞室间孔或明显的鞍周扩展。     

刺激强度对黑质DA能神经元伤害性反应的影响

本研究用细胞外记录方法研究大鼠黑质多巴胺能神经元伤害性反应的特点。共记录了194个多巴胺能神经元。其中,大多数神经元(78％)可被尾部强电刺激(15mA,1.0ms)所抑制,15％被兴奋。兴奋和抑制反应均依赖于刺激强度。当刺激强度变化于0～20mA时,伤害性反应强度与刺激强度的对数显著相关。来自不同部位的刺激可会聚于同一神经元。反应潜伏期和阈值提示Aδ纤维参与伤害性信息传入黑质的过程。本文还讨论了多巴胺能神经元系统在痛觉机制中的作用。     

耳廓复合组织瓣连续法修复鼻翼缺损

目的观察耳廓复合游离组织瓣连续法修复鼻翼缺损的疗效，以探讨鼻翼缺损的有效修复手段。方法耳廓复合游离组织瓣2次连续法修复鼻翼缺损7例，移植物面积0．5cm×0．7cm～0．8cm×1．2cm。结果7例耳廓复合游离组织瓣移植后全部成活。术后随访6～18个月，移植物无明显回缩，鼻外形满意。结论耳廓复合游离组织瓣连续移植修复鼻翼缺损，适合较严重鼻翼缺损，手术成功率高，术后鼻外形满意，双侧分次取材，耳廓外形双侧对称无畸形。     

Genetic study of retinoblastoma

Eight patients with retinoblastoma were studied by high resolution chromosome R-banding technique, and the EsD was quantitatively determined in red blood cells of the patients. Among these patients, two cases showed 13 q 14 deletion mosaicism, one showed a monosomy 13 q 14.1----q 14.2, and the rest had normal karyotype. The EsD activity was proportional to the number of copies of 13 q 14.1 region present. Our findings indicate that (1) the RB gene is located at 13 q 14.1, a region which is critical in the etiology of retinoblastoma, (2) 13q deletion is an important event in the development of retinoblastoma, and (3) EsD determination is an important diagnostic tool in the detection of 13 q deletion, useful for prenatal diagnosis and genetic counselling, permitting early institution of treatment upon early diagnosis.     

Select types of supporting cell in the inner ear express aquaporin-4 water channel protein

Aquaporins (AQPs) confer a high water permeability on cell membranes and play important parts in secretory and absorptive epithelia in kidney and other organs. Here we investigate whether AQPs are expressed in the sensory epithelia of the inner ear, where a precise volume regulation is crucial. By use of specific antibodies it was found that the inner ear contains AQP1 and 4 while being devoid of detectable levels of AQP2, 3 or 5. Immunofluorescence and postembedding immunogold labelling revealed a strictly non-epithelial distribution of AQP1, confirming previous data. In contrast, AQP4 protein and mRNA (visualized by in situ hybridization) were concentrated in select types of supporting cell, including Hensen's cells and inner sulcus cells. Immunogold particles signalling AQP4 were confined to the basolateral plasma membrane of Hensen's cells and to the basal plasma membrane of Claudius cells and inner sulcus cells. AQP4 was also found in supporting cells of the vestibular end organs, but was absent from transitional epithelial cells and dark cells. Strong labelling for AQP4 and AQP4-mRNA was associated with the central part of the cochlear and vestibular nerves. Hair cells were consistently unlabelled. Our findings indicate that AQP4 may facilitate osmotically driven water fluxes in the sensory epithelia of the inner ear and thus contribute to the volume and ion homeostasis at these sites.     

Altered neuropeptide Y Y1 responses in mesenteric arteries in rats with congestive heart failure

The aim of the present study was to elucidate if the potentiating effect of neuropeptide Y on various vasoactive agents in vitro is (1) altered in mesenteric arteries from rats with congestive heart failure and (2) mediated by the neuropeptide Y Y₁ receptor. The direct vascular effects of neuropeptide Y and its modulating effects on the contractions induced by endothelin-1-, noradrenaline-, 5-hydroxytryptamine (5-HT)-, U46619-(9, 11-dideoxy-11, 9-epoxymethano-prostaglandin F₂) and ATP, and acetylcholine-induced dilatations were studied in the presence and absence of the neuropeptide Y Y₁ antagonist, BIBP3226 (BIBP3226{(R)-N2-(diphenylacetyl)-N-[(4-hydroxyphenyl)methyl]- -arginine-amide}). Neuropeptide Y, per se, had no vasoactive effect in the arteries. The potency of endothelin-1 was significantly decreased in congestive heart failure rats. Neuropeptide Y and neuropeptide Y-(13–36) potentiated the endothelin-1-induced contraction in congestive heart failure mesenteric arteries. In 20% of the congestive heart failure rats, sarafotoxin 6c induced a contraction of 31±4%. Neuropeptide Y also potentiated U46619- and noradrenaline-induced contractions but not 5-HT-induced contractions in congestive heart failure arteries. In sham-operated animals neuropeptide Y potentiated noradrenaline- and 5-HT-induced contractions. These potentiations were inhibited by BIBP3226. Acetylcholine induced an equipotent relaxation in both groups which was unaffected by neuropeptide Y. In conclusion, neuropeptide Y responses are altered in congestive heart failure rats. The potentiating effect differs between vasoactive substances. Neuropeptide Y Y₁ and non-neuropeptide Y₁ receptors are involved.     

Successful management of laryngotracheosophageal cleft through an anterior approach

Laryngotracheoesophageal cleft is an uncommon disease that is difficult to diagnose and treat. Repair of the cleft depends on length and localization of the defect as well as the associated anomalies. A successful repair of a type II cleft is reported in this paper. An anterior split of the larynx and trachea was used and provided excellent exposure and safe repair without injury to the neurovascular structures. This is the best approach and should be used to correct all type II defects.