Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype

BackgroundAromatic L-amino acid decarboxylase (AADC) deficiency, caused by a pathogenic variant in the dopa decarboxylase (DDC) gene, is a rare neurometabolic disorder in which catecholamine and serotonin are not synthesized. From a large number of reports, it has been recognized that most affected patients show severe developmental delay in a bedridden state and are unable to speak. On the other hand, patients with a mild phenotype with AADC deficiency have been reported, but they number only a few cases. Therefore, the variation of phenotypes of the disease appears to be broad, and it may be challenging to diagnose an atypical phenotype as AADC deficiency.Case reportWe report novel compound heterozygous variants in DDC (c.202G > A and c.254C > T) in two sisters, whose main complaint was mild developmental delay, by whole-exome sequencing (WES). Additionally, we describe their clinical features and provide an image that shows the variants located at different sites responsible for the catalysis of AADC in a three-dimensional structure. The patients were prescribed a Monoamine oxidase (MAO) inhibitor after diagnosis.InterpretationOur cases indicate that a comprehensive genomic approach helps to diagnose AADC deficiency with atypical features, and underscore the significance of understanding the variations of this disorder for diagnosis and appropriate treatment.     

加减肾附丸治疗腰椎间盘突出症肾虚寒凝证的疗效观察

目的 观察加减肾附丸治疗腰椎间盘突出症肾虚寒凝证的近远期疗效。方法 100例患者被随机分为对照组和观察组，各50例。对照组口服美洛昔康片，每次7.5 mg，每日1次；观察组口服加减肾附丸，每次300 mL，每日2次，疗程均为3个月。治疗前后分别观察两组简化McGill疼痛积分量表（SF-MPQ），Oswestry腰背及下肢功能障碍指数（ODI），中医证候评分；检测全血黏度（高切、中切、低切），血清炎性因子［肿瘤坏死因子-α（TNF-α），白细胞介素-1β（IL-1β），白细胞介素-6（IL-6）］，疼痛介质［内皮素-1（ET-1），前列腺素E₂（PGE₂），环氧化酶-2（COX-2）］。观察两组临床疗效，随访12，24个月的复发率。记录研究期间两组患者出现的不良反应类型及时间。结果 治疗后，观察组患者总有效率98.0%（49/50），高于对照组的82.0%（41/50）（P<0.05）。随访12个月，观察组复发率23.9%（11/46）低于对照组的52.5%（21/40）（χ²＝5.193，P<0.05）。随访24个月，观察组复发率43.9%（18/41），低于对照组的80.6%（29/36）（P<0.05）。与对照组治疗后比较，观察组SF-MPQ，ODI，中医证候，全血黏度，IL-6，TNF-α，IL-1β，ET-1，PGE₂，COX-2明显降低（P<0.05）。观察组不良反应发生率2.0%（1/50），低于对照组的52.0%（26/50）（χ²＝6.264，P<0.05）。结论 加减肾附丸可明显改善腰椎间盘突出症肾虚寒凝证的患者的近远期临床疗效，不良反应发生率低。     

Zinc deficiency leads to reduced interleukin-2 production by active gene silencing due to enhanced CREMα expression in T cells

1. Download : Download high-res image (170KB)
2. Download : Download full-size image

     

小四五汤在艾滋病血脂异常患者中的应用

艾滋病患者进行HAART过程中,使用含有克立芝片(洛匹那韦/利托那韦片)或依非韦伦片的抗病毒药治疗方案时,这2种药物有导致血脂异常的不良反应,患者常血脂升高。基于艾滋病中医共同病机的研究结果,选用小四五汤干预,发现该方能明显降低血脂。提高了艾滋病患者抗病毒治疗的依从性,增强了治疗效果,值得进一步深入研究。     

林洁从“阳化气,阴成形”论治多囊卵巢综合征

多囊卵巢综合征(polycystic ovary syndrome,PCOS)患者的卵泡发育异常与"阳化气,阴成形"功能失衡密切相关。在PCOS患者的月经周期变化中,"阳化气"与"阴成形"的功能失调常见两种阴阳失衡表现。其一是"阴成形"不足,"阳化气"相对过盛;其二是"阴成形"太过,"阳化气"乏力。林洁教授将PCOS患者从胖、瘦两种体型辨证施治,瘦型PCOS患者的发病之本为"阳化气"太过,其标为"阴成形"不足,多辨为心肝火旺证,采用以丹栀逍遥散为基础方化裁的多囊Ⅰ号方治疗;胖型PCOS患者发病之本为"阳化气"乏力,其标为"阴成形"太过,采用以导痰汤为基础化裁的多囊Ⅱ号方治疗。另外,属患者养成健康的饮食习惯和良好的生活习惯,选择适合的运动方式,病情严重者进行必要的心理疏导。     

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。     

Randomized,placebo-controlled trial of ferric carboxymaltose in restless legs syndrome patients with iron deficiency anemia

ObjectiveIntravenous ferric carboxymaltose (FCM) has been shown to be efficacious in treating restless legs syndrome (RLS) symptoms in non-anemic patients. The aim of this study was to evaluate the effectiveness of FCM in treating RLS symptoms in patients who also had an iron deficiency anemia (IDA).MethodsThis is a randomized, double-blinded, placebo-controlled study. Subjects with RLS and IDA were enrolled. Subjects received an infusion of either 1500 mg FCM or placebo in Phase I. The primary outcomes were a change-from-baseline at week six on the International Restless Legs Syndrome Study Group scale (IRLS). Phase II of the study involved long-term (52 weeks) follow-up, for those who responded to treatment in the prior phase, with the potential for further treatment if symptoms returned.ResultsWe enrolled 29 RLS patients with IDA (15 FCM and 14 placebo). At week six post-infusion, FCM compared to placebo group showed significant improvement from baseline in IRLS score (−13.47 ± 7.38 vs. 1.36 ± 3.59). Among secondary outcome variables, quality of sleep showed significant improvement from baseline in the FCM group. 61% of subjects remained off RLS medications at the Phase II, week-52 endpoint. There were no serious adverse events observed in the study.ConclusionThe study showed significant efficacy and safety of FCM 1500 mg treatment both in the short term (6 weeks) and long term (52 weeks) in RLS patients with IDA.     

益肠通秘汤联合中药热奄包治疗老年脾肾阳虚型慢性便秘效果观察

目的探讨益肠通秘汤联合中药热奄包治疗老年脾肾阳虚型慢性便秘的临床疗效。方法选取2016年4月至2017年1月湖北省中医院肛肠科收治的60例老年脾肾阳虚型慢性便秘患者作为研究对象,并按照随机数表法随机分为试验组(30例)与对照组(30例),其中试验组患者在口服益肠通秘汤的同时采用中药热奄包热敷治疗,对照组患者单纯口服乳果糖口服溶液治疗,对比观察两组患者的腹胀、排便时间、排便顺畅度、便后不尽感等变化情况以及临床疗效与复发情况。结果治疗14 d后,两组患者腹胀、排便时间、排便顺畅度及便后不尽感较治疗前均明显改善,且尤以试验组改善最为显著,两组患者腹胀、排便时间、排便顺畅度及便后不尽感评分分别与治疗前对比,P均0.05,差异具有统计学意义;治疗14 d后,两组患者腹胀及便后不尽感评分对比,P均0.05,差异具有统计学意义;治疗14 d后,两组患者排便时间及排便顺畅度评分对比,P均0.05,差异无统计学意义;治疗14 d后,试验组患者中痊愈17例、显效6例、有效4例、无效3例、总有效率为90. 00%,对照组患者中痊愈9例、显效8例、有效3例、无效10例、总有效率为66.67%,两组对比,P0.05,差异具有统计学意义;治疗后6个月随访,试验组17例痊愈患者中复发4例,对照组9例痊愈患者中复发6例。结论益肠通秘汤联合中药热奄包治疗老年脾肾阳虚型慢性便秘,可有效缓解患者腹胀不适、排便时间延长、排便费力及便后不尽感等临床症状,疗效显著,且复发率较低,值得临床推广应用。