Clinical manifestations of Pacak‐Zhuang syndrome in a male pediatric patient

We report an index case of a male patient who presented with all clinical manifestations of Pacak‐Zhuang syndrome, including early‐age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline.     

逐瘀止血汤加减治疗慢性子宫内膜炎气虚血瘀证的疗效观察

目的 评价逐瘀止血汤加减对慢性子宫内膜炎（CE）气虚血瘀证患者妊娠结局的影响及对免疫炎症因子的调节作用。方法 将144例患者随机按数字表法分为观察组和对照组各72例。观察组脱落、失访4例，剔除2例，完成66例；对照组脱落、失访3例，剔除5例，完成65例。两组均给予抗感染治疗14 d。对照组口服妇科千金片，6片/次，3次/d。观察组内服逐瘀止血汤加减，1剂/d。两组疗程均为3个月，并随访6个月。记录治疗前后月经经量、经期和周期变化情况；进行治疗前后宫腔镜和阴道彩色多普勒超声检查，评价子宫内膜形态、子宫内膜容受性（CP）［子宫内膜厚度、阻力指数（RI），搏动指数（PI）和血流指数（FI）］等，并进行子宫内膜病理检查；进行治疗前后气虚血瘀证评分；检测治疗前后月经血白细胞介素-1β（IL-1β），IL-6和肿瘤坏死因子-α（TNF-α）水平和外周血测T淋巴亚群（CD3⁺，CD4⁺，CD8⁺）水平；随访记录妊娠情况和流产情况。进行安全性评价。结果 治疗后观察组经量、经期、周期和月经完全正常率均高于对照组（P<0.05）；观察组子宫内膜厚度和FI均高于对照组（P<0.01），RI和PI均低于对照组（P<0.01）；观察组月经血IL-1β，IL-6和TNF-α水平均低于对照组（P<0.01）；观察组CD3⁺，CD4⁺水平和CD4⁺/ CD8⁺均高于对照组（P<0.01），CD8⁺水平低于对照组（P<0.01）；在6个月随访期间，观察组妊娠率46.97%（31/66），高于对照组的27.69%（18/65）（χ²=5.197，P<0.05）；观察组子宫内膜形态疗效总有效率为96.97%（64/66），高于对照组的86.15%（56/65）（χ²=4.981，P<0.05）；观察组子宫内膜病理组织疗效总有效率为95.45%（63/66），高于对照组的84.62%（55/65）（χ²=4.304，P<0.05）；观察组综合临床疗效总有效率为93.94%（62/66），高于对照组的81.54%（55/65）（χ²=4.696，P<0.05）；两组治疗期间均未发现与中药相关不良反应。结论 逐瘀止血汤加减治疗CE气虚血瘀证患者，可调经月经、减轻临床症状，改善宫腔镜下内膜形态，调节全身和局部的免疫炎症反应，提高了CP，从而改善了妊娠结局，有着较好的综合疗效，且安全。     

基于病因病机分析各省市新型冠状病毒肺炎的中医药防治

新型冠状病毒肺炎属于中医学“疫病”范畴。疫情爆发以来,全国各省市卫生行政管理部门坚持中西医结合原则,陆续制定了各省市的中医药防治方案,三因制宜,分期分型辨证并不断完善。笔者全面收集并整理相关信息,基于病因病机分析了各省市中医药防治方案,认为此次疫病是外感疫气,病位主要在肺卫,病邪主要表现为“毒、湿、热、虚、寒”。此“毒”即为疫气,武汉遇暖冬,非其时而有其气而发疫,一气一病,播散流行,治疫必先治毒;“湿”邪之地在南北方各占一半,东西部均有,在南方源于季节和地域,在北方可由寒挟杂,治疗均应祛湿;“热”主要见于南方,为南方常见的病邪,亦可因湿毒入里,湿郁化热,而在北方热与湿同现,主要是因湿毒入里,湿郁化热,治热均以清为主;“虚”则主要在北方,北方冬季多寒,易伤正致虚,或邪正交争激烈,伤阳伤阴致虚,宜祛邪为标,扶正为本;“寒”见于北方和南方山区,寒气过甚,易伤阳伤正,故尤其要注重预防,且以补正气为主。中医防疫治疫应三因制宜,重视预防,与时俱进。     

产前超声诊断胎儿右房异构一例

本文报道产前超声诊断胎儿右房异构一例。孕妇孕24周产前超声检查发现胎儿左位心合并复杂心血管畸形(右心室双出口、房室间隔缺损、肺动脉发育不良、双侧上腔静脉、心下型完全型肺静脉异位引流)、胃泡位于腹腔右侧、中位肝、可疑无脾、腹主动脉与下腔静脉位于脊柱左侧、双侧支气管呈右侧支气管对称形态,综合考虑右房异构可能。引产后经尸体解剖证实脾脏发育不良、右房异构。右房异构常合并复杂心血管畸形,因此产前超声发现复杂心血管畸形时,应警惕右房异构的可能。右房异构病死率极高,产前诊断具有重要意义。     

针刺辅助治疗难治性肠易激综合征临床试验方案关键点设计的思考＊

肠易激综合征（Irritable bowel syndrome，IBS）是临床常见病、多发病，其治疗方法丰富，但部分患者疗效欠佳，发展成难治性IBS。目前国内外关于针灸治疗难治性IBS的临床随机对照试验尚不多见。本文立足试验方案设计的“PICOS”原则，从研究对象及诊断标准、干预措施、对照措施、结局指标四个方面入手，重点探讨针刺辅助治疗难治性肠易激综合征临床试验设计的关键要点。从选择特色优势病种、明确诊断标准、制定符合临床实际的干预方案、运用符合目标的安慰针刺、结合研究设计和目的选定结局指标几个角度，阐述试验相关环节设计的原因和思考。     

Vers un rapprochement du syndrome de Klinefelter et de la psychopathie en psychiatrie légale

Klinefelter syndrome (KS) (47,XXY) is the most common aneuploidy (1/650) of sexual chromosome among male (0,1 à 0,2 % of male population) (Hong and Reiss, 2014). Because its large physical phenotypic variability (high tall, sparse hairiness, gynecomastia), this syndrome is largely underdiagnosed (less than 25 % of affected persons) (Samango-Sprouse et al., 2018). Nevertheless, cognitive variability is smaller. Normal to low average total IQ, low verbal IQ, social problems and high levels of psychiatric comorbidities including early aggressiveness are commonly described (Hong and Reiss, 2014). In Denmark, higher risks of committing sexual crime and arson (compared to criminal controls) was recently reported (Stochholm et al., 2012). Quite a few clinically relevant cases reports scattered in the literature, suggests the presence of a pattern of a specific subtype of KS inpatients among forensic population (Bénézech, 1975). However, very few studies provide quantitative or qualitative pertaining to robust results. KS well-documented neurobiological (van Rijn, 2018) (e.g. low levels of testosterone), neuropsychological (Bénézech, 1975; Hong and Reiss, 2014; Samango-Sprouse et al., 2018; Savic, 2012; Seara-Cardoso et al., 2016; Senon, 2005; Stochholm et al., 2012; van Rijn, 2018; van Rijn et al., 2008; van Rijn et al., 2018; van Rijn et al., 2014; van Rijn et al., 2012) [29] (e.g. alterations of both complex cerebral — attention, empathy — and behavioral regulation functions - inhibition, mental flexibility, emotional response modulation, control of own actions) and neuroanatomical (Hong and Reiss, 2014; Itti et al., 2003; Savic, 2012; van Rijn et al., 2008; van Rijn et al., 2012) [29] (e.g. limbic system and temporal lobe abnormal volume, hemispheric specialization shortcoming) features may be helpful to understand comorbid symptoms psychopathology. Numbers of recent studies conduct on KS pediatric or adult population provide interesting results on conduct, anxiety, psychotic and autism spectrum disorders. In addition, some authors use genetic and epigenetic specific features of sex chromosome aneuploidies (e.g. X genes neurodevelopmental role; imprinting) in order to clarify genotype-phenotype links of comorbid symptoms (Bruining et al., 2011; Zitzmann et al., 2004;). With Belgian colleagues from the Social Defense Research Center (CRDS, Tournai, Belgium), we are currently recruiting KS inpatients from security hospitals or psychiatric units in Belgium and France. We aim to assess psychopathic traits with the Psychopathy Checklist Revised (PCL-R, Hare) (Hare, 2003). Our first results concerning 3 KS males outline that PCL-R is useful for the characterization of clinical phenotype among KS forensic sample. While three of them present psychopathic traits, two of them present categorical double diagnose “psychopathy-KS” (total PCL-R score > = 30/40 (Delannoy et al., 2017)). Moreover, dimensional analysis support our hypothesis of a higher prevalence of “explosive profile” in comparison to other psychopathic profiles in our sample (Delannoy et al., 2017). The present article summarizes historic background (e.g. “psychopathy” disappearance of mental disorder reference classification schemes, “crime chromosome” (Bénézech, 1975)) and current context argues (e.g. French psychiatrists court experts widely refer to psychopathy concept despite a lack of consensual definition (Senon, 2005), weak knowledge and training of PCL-R and its related biopsychological recent findings (Blair, 2013; de Oliveira-Souza et al., 2008; Dotterer et al., 2017; Glenn and Raine, 2014; Hosking et al., 2017; Korponay et al., 2017; Pham, 1995; Pham, 2005; Raine, 2008; Raine et al., 2003); stigma and discrimination apprehensions of KS and psychopath) that motivate our research project. Finally, we discuss the advantages of our research protocol on KS participants assessed with PCL-R, such as tackling stigma and discrimination, better understanding psychopathology, and clarifying murky interactions of biological, psychological and social factors entangled in the development of these two fascinating troubles.     

A drug safety evaluation of mogamulizumab for the treatment of cutaneous T-Cell lymphoma

Introduction: Cutaneous T-cell lymphomas (CTCL) are rare non-Hodgkin lymphomas of skin-homing T-cells that initially or mainly manifest cutaneously. Treatment of CTCL is challenging given the disease states’ varying presentation and prognosis. Systemic treatment options often lack comparative evidence and have relatively low response rates and short duration of response. The recent Food and Drug Administration (FDA) approval of mogamulizumab in adult patients with relapsed or refractory (R/R) CTCL after at least one prior line of therapy provided a new treatment option to patients with advanced disease.

Areas covered: The authors discuss basic information about CTCL and mogamulizumab’s mechanism of action. Then, the authors discuss the agent’s efficacy. Finally, the authors evaluate the safety of mogamulizumab in comparison to other agents available in CTCL.

Expert opinion: Mogamulizumab has been shown to be an effective and well tolerated therapy for patients with relapsed and refractory MF/SS with excellent activity in the circulating component of the disease.