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Identifying autism loci and genes by tracing recent shared ancestry   总被引:2,自引:0,他引:2  
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutations. The largest deletions implicated genes, including PCDH10 (protocadherin 10) and DIA1 (deleted in autism1, or c3orf58), whose level of expression changes in response to neuronal activity, a marker of genes involved in synaptic changes that underlie learning. A subset of genes, including NHE9 (Na+/H+ exchanger 9), showed additional potential mutations in patients with unrelated parents. Our findings highlight the utility of "homozygosity mapping" in heterogeneous disorders like autism but also suggest that defective regulation of gene expression after neural activity may be a mechanism common to seemingly diverse autism mutations.  相似文献   
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Julia Griffin 2011年10月在互联网发表的论文"Ensuring Certified Supply"报道了零售商B&Q公司(百安居)实现了所售木材商品全部来自可持续来源,同时也指出了,木材供应可持续发展面临着难题和挑战仍有很长的路要走。  相似文献   
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PRACTICAL RELEVANCE: Calcium oxalate (CaOx) containing stones are among the most common of the urinary tract stones identified in cats. RISK FACTORS: Risk factors for CaOx stone formation include such things as breed, gender and diet; stress and obesity have also been hypothesized to be risk factors for this disease. MANAGEMENT APPROACH: A tailored, individual management strategy for preventing CaOx stone recurrence is important and should include addressing the diet, environment and any other comorbid conditions present. Increasing the cat's moisture intake is one of the key mechanisms for preventing recurrence. CLINICAL CHALLENGES: CaOx ureterolithiasis has emerged as a difficult and sometimes life-threatening problem for cats. In those cats where stones are found incidentally, periodic monitoring may be required to assess for disease progression. Interventional procedures such as ureteral stent placements are now increasingly being performed for recurrent cases or those with larger stone burdens. Periodic radiographs for more severe cases and frequent client communication can help ensure successful outcomes for cats with lower and upper CaOx stone disease. EVIDENCE BASE: Limited evidence-based studies are published regarding management of feline upper and lower urinary tract CaOx stone disease, making this a difficult condition to manage in some cats. Studies designed to evaluate the relationship to dietary modifications, medical management, stress, obesity and surgical techniques are warranted in cats with upper and lower urinary tract CaOx stones.  相似文献   
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A new copepod species, Acanthochondria sagitta sp. n., is described based on specimens collected from the flounder Xystreurys rasile (Jordan) (Pleuronectiformes, Paralichthyidae), caught in the coastal waters off Necochea, Buenos Aires Province, Argentina. The new species differs from its congeners by the following combination of characters: presence of three pairs of cephalic outgrowths; the triangular shape of the trunk with diverging postero-lateral processes; leg 2 of an intermediate shape between Types C and D, which projects laterally from the trunk, and Type B-V antennule bearing two proximal processes (one ventral and one dorsal) on the swollen basal portion.  相似文献   
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Five horses were examined because of signs of muscle stiffness, colic, or both. All 5 had been exposed to Streptococcus equi within 3 weeks prior to examination or had high serum titers of antibodies against the M protein of S equi. Horses had signs of unrelenting colic-like pain and focal areas of muscle swelling. Four horses were euthanatized. The fifth responded to treatment with penicillin and dexamethasone; after 3 weeks of treatment with dexamethasone, prednisolone was administered for an additional 10 weeks. Common hematologic and serum biochemical abnormalities included neutrophilia with a left shift and toxic changes, hyperproteinemia, hypoalbuminemia, and high serum creatine kinase and aspartate transferase activities. Necropsy revealed extensive infarction of the skeletal musculature, skin, gastrointestinal tract, pancreas, and lungs. Histologic lesions included leukocytoclastic vasculitis in numerous tissues and acute coagulative necrosis resembling infarction. These horses appeared to have a severe form of purpura hemorrhagica resembling Henoch-Sch?nlein purpura in humans and characterized by infarction of skeletal muscles. Early recognition of focal muscle swelling, abdominal discomfort, neutrophilia, hypoalbuminemia, and high serum creatine kinase activity combined with antimicrobial and corticosteroid treatment may enhance the likelihood of a successful outcome.  相似文献   
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