A rare polymorphism affects a mitogen-activated protein kinase site in synapsin III: possible relationship to schizophrenia.

BACKGROUND: Synapsin III plays a role in neuronal plasticity and maps to chromosome 22q12-13, a region suggested to be linked to schizophrenia. To determine if synapsin III plays a role in this disease, we searched for polymorphisms in this gene in patients with schizophrenia and controls. METHODS: The synapsin III gene was initially sequenced from 10 individuals with schizophrenia to identify polymorphisms. Association analysis was then performed using 118 individuals with schizophrenia and 330 population controls. Synapsin III expression was studied by immunoblot analyses, and phosphorylation sites were mapped by sequencing trypsin-digested synapsin III fragments phosphorylated with phosphorus-32. RESULTS: A rare, missense polymorphism, S470N, was identified in the synapsin III gene and appeared more frequently in individuals with schizophrenia than in controls (p =.0048). The site affected by the polymorphism, Ser470, was determined to be a substrate for mitogen-activated protein kinase, a downstream effector of neurotrophin action. Phosphorylation at Ser470 was increased during neonatal development and in response to neurotrophin-3 in cultured hippocampal neurons. CONCLUSIONS: Our observations suggest an association of a rare polymorphism in synapsin III with schizophrenia, but further studies will be required to clarify its role in this disease.     

茶碱及其缓释剂在可逆性气道痉挛中疗效观察及血药浓度监测对照研究

目的 无水茶碱修筛缓释片——优喘平(portheo)治疗可逆性支气管阻塞患者(FEV_1<预计值80％)30例。观察其疗效及安全性,同时监测其STLD(血清浓度),并与氨茶碱片口服后STLD进行比较。结果显示;优喘平治疗哮喘及慢性阻塞性肺病疗效达90.6％,三例有轻微副作用。优喘平服用后4小时STLD即达有效浓度,8小时后STLD多维持在有效水平,峰值多<20ug/ml。氨茶碱0.1/次,3次/日,连服4天后STLD谷值多<5ug/ml,0.2/次,3次/日,连服4天后STLD谷值均>5ug/ml,峰值均>20ug/ml,且多有较重毒付作用。优喘平0.4/次,1次/日与氨茶碱0.1/次,3次/日比较,疗效好,而比氨茶碱0.2/次,3次/日,毒付反应少。优喘平与氨茶碱有显著差异。(P<0.01)。     

Diagnostic value of GDx polarimetry in a Taiwan Chinese population.

PURPOSE: To study the diagnostic ability of scanning laser polarimetry with variable corneal compensation (GDx VCC) for early glaucomatous (EG) eyes and glaucoma-suspect (GS) eyes in a Taiwan Chinese population. METHODS: This prospective cross-sectional study included 82 EG eyes (mean deviation, MD: -3.32 +/- 2.20 dB), 45 GS eyes (MD: -2.43 +/- 2.16 dB), and 62 normal eyes. Retinal nerve fiber layer thickness of each subject was measured using GDx VCC and Humphrey Field Analyzer visual field testing. Measured GDx VCC parameters were compared among groups. The area under the receiver operating characteristic (AROC) curve of each parameter was used to differentiate normal from EG eyes or GS eyes. The correlation between MD and each parameter was also evaluated. RESULTS: For both normal versus EG and normal versus GS, the largest AROC values were for nerve fiber indicator, superior average thickness, and inferior average thickness. There was no significant correlation between MD and GDx-VCC-measured parameters either in EG or GS eyes. CONCLUSIONS: GDx VCC shows only moderate ability to distinguish normal eyes from eyes with early glaucoma. However, its diagnostic role in eyes with suspicious discs and normal visual fields is uncertain at this moment in the Taiwan Chinese population. Further studies are needed to address this issue.     

An Unusual Form of Skin Tuberculosis Following B.C.G. Vaccination

A 25-year-old female has had brown to erythematous telangiectatic patches and grouped papules on her face, neck, arm, and trunk since childhood following B.C.G. vaccination. Histopathologically, the lesions consisted of hyperkeratosis, slight acanthosis, tuberculoid granulomas with some Langerhans type giant cells in the mid-dermis. Although various forms of cutaneous tuberculosis after B.C.G. vaccination have been reported, it was difficult for us to assign the patient's skin lesion to any specific disease entity. Remission of her cutaneous lesions occurred clinically and histopathologically after treatment with isoniazid and rifampin.     

Direct injections of calcitriol into enlarged parathyroid glands in chronic dialysis patients with severe parathyroid hyperfunction

Summary: Severe secondary hyperparathyroidism in chronic dialysis patients has been recently treated by supraphysiological concentration of calcitriol achieved through pulse therapy. However, there are many patients resistant to this therapy, who usually have larger parathyroid gland(s). to overcome this resistance, calcitriol was injected directly into the enlarged glands under ultrasonographic guidance. We injected 70–90% of the calculated gland volume of calcitriol solution (1 μg/mL) into the glands of 7 patients three times per week for 2 weeks. the parathyroid hormone (PTH) levels decreased significantly after 2 weeks of direct injections of calcitriol. Following a further 4 weeks of calcitriol pulse therapy, PTH levels remained suppressed and serum alkaline phosphatase activity and the volume of parathyroid glands also decreased. During the long-term follow up, five patients remained well controlled with calcitriol pulse therapy, while two patients needed ethanol injections to control hyperparathyroidism. Although we could not completely rule out a toxic effect of the vehicle, direct injection of calcitriol into parathyroid glands may be another treatment option for chronic dialysis patients. Our data further support the important role of resistance of parathyroid cells to calcitriol in the pathogenesis of parathyroid hyper function in uraemic patients.