SCNN1B基因突变致全身型假性醛固酮减少症1型1例报告并文献复习

目的探讨SCNN1B基因突变所致的全身型假性醛固酮减少症1型(PHA1)的早期诊断和治疗。方法回顾分析1例PHA1患儿的临床资料,并对全身型PHA1尤其是SCNN1B基因突变的全身型PHA1进行文献复习。结果患儿,女,4岁3个月,出生1个月时诊断为假性醛固酮减少症,服用聚苯乙烯磺酸钙、枸橼酸钠后仍反复出现脱水性休克、低钠血症、高钾血症、酸中毒,且反复下呼吸道感染及皮疹。基因测序显示SCNN1B基因编码区第2外显子存在c.118CT错义突变,第4内含子存在c.776+1GA错义突变。查询HGMD数据库、ESP6500siv2_ALL、千人基因组(1000g2015aug_ALL)和dbSNP 147数据库,两种突变均未见报道。未检测到高IgE综合征相关的基因突变。目前国内无SCNN1B突变致全身型PHA1病例报道。国外报道4例,发病年龄为出生3天～3周,表现为呕吐、反应差、休克、脱水、高血钾、低血钠、代谢性酸中毒、流清涕、反复下呼吸道感染,4例中1例死亡。结论 SCNN1B突变所致PHA1较罕见,为常染色隐性遗传,新生儿顽固性低钠血症、高钾血症和代谢性酸中毒应考虑PHA1可能,基因检测可明确诊断及判断预后。     

肺脏超声对新生儿肺炎诊断价值的Meta分析

目的　采用 Meta 分析方法来评价肺脏超声对新生儿肺炎的诊断价值。方法　检索PubMed、Cochrane library、Embase、CNKI 和万方数据库,按照诊断性试验的纳入和排除标准,获取符合本研究要求的文献,检索时间为建库至 2018年9月。共检索到907篇文献,选取其中8篇进一步分析,并对文献质量进行QUADAS2标准评价,采用Q检验和I 2统计量进行异质性检验,采用 Meta-Disc 1.4 软件进行统计学分析,评价肺脏超声对新生儿肺炎的诊断价值。 结果　共纳入8篇文献、1078例。采用随机效应模型对纳入的研究进行统计分析,合并敏感度为0.96（95%CI：0.95～0.98）,合并特异度为0.98（95%CI：0.95～0.99）,合并阳性似然比为19.52（95%CI：5.00～76.15）,合并阴性似然比为0.04（95%CI：0.01～0.16）,合并诊断优势比为565.45（81.80～3908.58）,拟合ROC 曲线下面积0.9950。结论　肺脏超声诊断新生儿肺炎的敏感度和特异度较X线高。鉴于其相对容易操作、实时可用、低成本和无电离辐射,目前的证据支持超声作为新生儿肺炎诊断的替代手段。     

Disseminated Bartonella henselae disease mimicking Langerhans’ cell histiocytosis

Bartonella henselae, the causative agent of cat‐scratch disease, has been recognized to be responsible for a broad range of clinical syndromes. We report the case of a patient with disseminated B. henselae infection mimicking Langerhans cell histiocytosis at presentation and its successful management with neurosurgery, prolonged antibacterial therapy, and observation.     

Effects of low‐dose melamine exposure during pregnancy on maternal and fetal kidneys in rats

Despite the previous reports on melamine contamination in high concentrations some years ago, there were not many studies on low‐level exposure in daily life, particularly in pregnancy. We investigated the effect of low‐dose melamine on the kidneys of the pregnant rats and their developing embryos/fetuses during various gestational stages namely implantation, gastrulation, organogenesis, maturation and whole pregnancy. Our results showed that the repeated low level of melamine (12.5, 25, and 50 mg/kg bw/d) during pregnancy did not cause obstruction of renal tubules although more precipitating crystals were found in the early gestational periods. Simple hyperplasia in the maternal tubules and pelvic epithelium were more prominent after exposed to melamine during the whole gestational period. Neonatal kidneys significantly suffered more from congestion in glomeruli and interstitium, dilated tubules and interstitial edema after melamine administration to the mother in the late and the whole gestational periods. A trend of advance of glomerular development in fetuses was also observed. We conclude that in utero exposure of low‐level melamine could post a risk on the kidneys of the pregnant mother as well as the developing fetuses, which may further increase the possibility of other health problems later in life.     

The Self-Overlap Method for Assessment of Lung Nodule Morphology in Chest CT

Surface morphology is an important indicator of malignant potential for solid-type lung nodules detected at CT, but is difficult to assess subjectively. Automated methods for morphology assessment have previously been described using a common measure of nodule shape, representative of the broad class of existing methods, termed area-to-perimeter-length ratio (APR). APR is static and thus highly susceptible to alterations by random noise and artifacts in image acquisition. We introduce and analyze the self-overlap (SO) method as a dynamic automated morphology detection scheme. SO measures the degree of change of nodule masks upon Gaussian blurring. We hypothesized that this new metric would afford equally high accuracy and superior precision than APR. Application of the two methods to a set of 119 patient lung nodules and a set of simulation nodules showed our approach to be slightly more accurate and on the order of ten times as precise, respectively. The dynamic quality of this new automated metric renders it less sensitive to image noise and artifacts than APR, and as such, SO is a potentially useful measure of cancer risk for solid-type lung nodules detected on CT.     

Beverage Specific Drinking Contexts

The contextual differentiation of beverage specific consumption is examined in a metropolitan area household survey of current drinkers. The findings indicate that beverage specific consumption is related to such structural proportions as presence/absence of food, drinking location, type of companion, and duration. Wine, for example, is frequently associated with mealtimes, at home, and with relatives.     

肾结核的影像诊断

目的探讨X线、B超和CT对肾结核的诊断价值。方法对我院2007年1月～2012年1月临床手术病理证实肾结核的28例病历从发生机理及病理基础上进行分析，结合其病理基础讨论。肾结核的X线、B超和CT表现及其鉴别诊断。结果中晚期肾结核病例，不宜做膀胱镜或输尿管插管，诊断不明确，可选CT扫描。多层螺旋CT（MSCT）能清晰地显示病变部位、累及范围、腔内外改变以及肾功能情况，是诊断肾结核的一种很好的影像方法。结论X线、B超和CT对肾结核检查有明显的诊断价值。曲面重建（CPR）对病变的显示及诊断很实用。     

隐匿性甲状腺癌的诊断及手术治疗（附68例报告）

目的：探讨隐匿性甲状腺癌（occult cancer of the thyroid,OCT）的诊断与治疗。方法：回顾性分析1998年-2008年我院收治并经病理证实的68例OCT患者的临床资料。结果：男性11例,女性57例,年龄15-69岁,中位年龄43.5岁。41例（60.2%）患者因发现甲状腺结节就诊,其中16（39.0%）例临床查体未能发现,后经超声、手术探查发现微小结节;17例（25%）以颈淋巴结肿大为首发症状,经超声检查发现同侧甲状腺中微小结节;68例中66例成功得到随访（随访率97.1%）,其中甲状腺腺叶切除术患者44例,改良颈淋巴结清除术患者22例,其中5例（7.6%）患者死亡,2例患者由于地址更换而失访（失访率2.9%）。结论：甲状腺乳头状微小癌起病隐匿,术前较难诊断。详细的查体和辅助检查是OCT诊断不可缺少的,手术治疗为甲状腺乳头状微小癌的主要手段。