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Spinocerebellar ataxias are a high clinically and genetically heterogeneous group of neurodegenerative disorders, usually belongs to autosomal dominant hereditary cerebellar ataxia. Spinocerebellar ataxia type 5 (SCA5) is one of the extremely rare subtypes and caused by heterozygous mutation of SPTBN2 gene. A case of infant-onset SCA5 patient is reported, mainly manifested as global developmental delay, ataxia and dysarthria, carrying the heterozygous missense variant c.1438C>T (p. Arg480Trp) in the SPTBN2 gene. This mutation may have an important impact on functional regions of the β-Ⅲ spectrin, leading to the occurrence of disease.
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The paper introduces the development status and requirements for informatization construction of pre-hospital first-aid in Nanning Emergency Medical Service Center,illustrates the pre-hospital first-aid informatization construction and management and analyzes the effects of pre-hospital first-aid informatization construction,including improving the pre-hospital first-aid ability,overall command and scheduling ability and first-aid response ability,etc.
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Objective To monitor the level of urinary iodine in pregnant women in Xiaogan area,to understand the iodine nutri-tional status of pregnant women during pregnancy,and to provide theoretical basis for scientific guidance of iodine intake in preg-nant women.Methods The urine iodine levels of 2 956 pregnant women in Xiaogan Hospital Affiliated to Wuhan University of Sci-ence and Technology from March 2016 to May 2017 were examined and analyzed.Results In Xiaogan area,the median concentra-tions of urinary iodine in the early,middle and late stages of pregnant women were 145.73 μg/L,176.88 μg/L and 170.37 μg/L. 996 pregnant women were with urinary iodine concentration of over 150 μg/L,accounting for 33.69%;1372 pregnant women were with urinary iodine concentration of 150-249 μg/L,accounting for 46.41%;556 pregnant women were with urinary iodine concen-tration of 250-499 μg/L,accounting for 18.81%;32 pregnant women were with urinary iodine concentration of over 500 μg/L,ac-counting for 1.08%.The incidence rates of iodine deficiency in pregnant women at early,middle and late stage were 42.86%, 32.95% and 40.00%,and the difference was statistically significant(P<0.05).The incidence rate of iodine deficiency was 32.33%in pregnant women with age ≤ 30 years old,the incidence of iodine deficiency was 36.89% in pregnant women with age > 30 years old,and the difference was statistically significant(P<0.05).Conclusion At this stage,in Xiaogan,there are no overall maternal i-odine deficiency,but there was iodine malnutrition in pregnant women in early pregnancy,and some pregnant women lack awareness of iodine.
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Objective To explore the means of haemostasis in gallbladder preserving cholecystolithotomy. Methods The clinical data of 31 cases were retrospectively analyzed, summarizes the successful experiences. Results There appeared 31 cases the gallbladder internal bleeding in 512 cases gallbladder preserving cholecystolithotomy. In all the cases, 31 operations were stopped bleeding satisfactorily and performed successfully without conversion to conventional laparoscopic surgery, without perforation of gallbladder. pressure and lavage hemostasis had common effect, the control coagulation hemostasis had satisfaction rate 96.6%. Except one patient used gallbladder whole layers suture method. Conclusion The control coagulation hemostasis with the high-frequency electric knife is the optimal way, pressure and lavage hemostasis is basal, and gallbladder whole layers suture method is supplement.