Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma

Analysis of CYP1B1 in primary congenital glaucoma (PCG) patients from various ethnic populations indicates that allelic heterogeneity is high, and some mutations are population specific. No study has previously reported the rate or spectrum of CYP1B1 mutations in Australian PCG patients. The aim of this study is to determine the frequency of CYP1B1 mutations in our predominately Caucasian, Australian cohort of PCG cases. Thirty-seven probands were recruited from South-Eastern Australia, along with 100 normal control subjects. Genomic DNA was extracted and the coding regions of CYP1B1 analysed by direct sequencing. Sequence analysis identified 10 different CYP1B1 disease-causing variants in eight probands (21.6%). Five subjects were compound heterozygotes, two subjects heterozygous and one homozygous for CYP1B1 mutations. Three missense mutations are novel (D192Y, G329D, and P400S). None of the novel mutations identified were found in normal controls. One normal control subject was heterozygous for the previously reported CYP1B1 R368H mutation. Six previously described probable polymorphisms were also identified. Mutations in CYP1B1 account for approximately one in five PCG cases from Australia. Our data also supported the high degree of allelic heterogeneity seen in similar studies from other ethnic populations, thereby underscoring the fact that other PCG-related genes remain to be identified.     

Psychopharmacological effects and safety of styryl‐2‐pyrones and dihydrostyryl‐2‐pyrones‐rich fraction from Polygala sabulosa: absence of withdrawal syndrome and tolerance to anxiolytic‐like and anticonvulsant effects

Objectives

To investigate whether mice develop tolerance to the anxiolytic‐like and anticonvulsant effects of subchronic treatment with EA (the styryl‐2‐pyrones and dihydrostyryl‐2‐pyrones‐rich fraction of Polygala sabulosa ), as well as any withdrawal symptoms after abrupt discontinuation; to compare the effects of EA with those of diazepam (DZP ) on withdrawal‐induced anxiety; and to evaluate the toxicity of EA according to OECD guidelines.

Methods

Male or female mice were acutely or subchronically treated with EA or DZP , and their tolerance to anxiolytic (evaluated in the elevated plus maze, EPM ) and anticonvulsant effects (measured against pentylenetetrazole (PTZ )‐induced convulsions) were investigated. Other groups received EA or DZP for 28 days followed by withdrawal, being the anxiety‐like behaviour evaluated in the EPM .

Key findings

Both acute and subchronic treatments with EA induced an anxiolytic effect in the EPM . The anticonvulsant activity of DZP , but not EA , was reduced by protracted treatment. EA withdrawal retained the anxiolytic profile, while DZP withdrawal induced anxiogenesis. EA counteracted the anxiogenic‐like actions of DZP withdrawal. EA has low toxicity as it did not cause any changes in the biochemical, haematological and histopathological markers.

Conclusions

EA avoids the development of tolerance to its anxiolytic‐like and anticonvulsant actions, and does not promote withdrawal syndrome. EA does not cause relevant toxic effects in rodents.

     

黄芪注射液对小儿呼吸道感染红细胞免疫指标的影响

目的：观察黄芪注射液对小儿反复呼吸道感染红细胞免疫指标的影响。方法：对体检的健康儿童６０例（对照组）进行红细胞Ｃ３ｂ受体花环试验、淋巴细胞绝对值测定和植物血凝素（ＰＨＡ）皮肤试验。６０例呼吸道反复感染患儿（治疗组）除常规治疗外，并给予黄芪注射液静滴，于治疗前后分别进行上述检验。结果：治疗组治疗后总有效率达９８．３％。治疗后免疫功能３项指标均明显优于治疗前（Ｐ均＜０．０１）；治疗组治疗后免疫功能３项指标与健康对照组比较均无显著性差异（Ｐ均＞０．０５）。结论：在西药抗生素及抗病毒治疗基础上，加用黄芪注射液具有增强免疫功能的作用，是治疗小儿反复呼吸道感染及免疫功能低下的一种新途径。     

复方小儿退热栓治疗小儿高热惊厥56例疗效及安全性观察

目的观察复方小儿退热栓治疗小儿高热惊厥的疗效及安全性。方法将112例患儿随机均分为2组,对照组予镇静、抗感染等对症处理,观察组在对照组基础上加用复方小儿退热栓治疗。结果对照组患儿治疗前平均惊厥次数为（4.3±1.8）次,治疗5 min后为（2.8±2.3）次（P〈0.05）。观察组患儿治疗前平均惊厥次数为（4.2±2.0）次,治疗后5 min后为（1.1±2.1）次（P〈0.05）,且治疗5 min后平均惊厥次数较对照组明显减少（P〈0.05）。与对照组相比,观察组患儿惊厥症状好转迅速,症状改善明显,患儿体温下降幅度超过1℃及住院治疗时间均明显缩短（P〈0.05）。观察组患儿治疗显效率和总有效率明显高于对照组患儿（P〈0.05）。两组患儿治疗过程中不良反应发生率比较未见明显差异（P〉0.05）。结论联合复方小儿退热栓治疗小儿高热惊厥的疗效确切、稳定、安全,值得临床推广。     

从脾阴虚论治小儿厌食症70例

目的观察从脾阴虚论治小儿厌食症的临床疗效。方法70例厌食症患儿口服加减麻仁滋脾汤,7d为1个疗程,治疗4个疗程后统计疗效。结果治愈14例,显效29例,有效24例,无效3例,总有效率95．7％。结论从脾阴虚论治小儿厌食症疗效满意,值得临床推广应用。     

从异病同治论小儿便秘与泄泻的辨证相关性

论述了小儿便秘与泄泻的辨证相关性,依据异病同治的原则,临证中饮食积滞、肝郁气滞、脾肾亏损、寒热错杂等证型,均可同证同治。从而拓宽临床诊疗思路,使辨证与辨病相结合,为临床辨证施治提供更为具体化的参考依据,同时使临床治疗简化明了,有利于治疗效果的评价。     

小儿厌食症的中医治疗进展

从病因病机、内治法、外治法及内外结合法几个方面对小儿厌食症的中医治疗进展进行了综述,为小儿厌食症的临床治疗提供文献支持。     

悬灸足三里对疳积大鼠胃泌素和胃动素及体重的影响

[目的]探讨艾灸足三里治疗疳积的作用机制.[方法]SD大鼠40只,随机分为正常组、模型组、对照组(非经穴治疗)、治疗组,采用特制高脂肪、高热量饲料喂养造模.造模后,艾灸足三里治疗.[结果]造模后大鼠进食量、体重、血清胃泌素(GAS)、胃动素(MOT)均降低,与正常组比较差异有统计学意义(P＜0.01).经2个疗程治疗后接近正常水平,与正常组比较差异无统计学意义.[结论]艾灸足三里能提高疳积大鼠的进食量、体重及血中GAS、MOT水平,从而明显改善其低下的消化功能.     

普萘洛尔治疗新疆地区婴幼儿血管瘤的临床疗效观察

目的:研究普萘洛尔治疗新疆地区婴幼儿血管瘤的临床疗效。方法:选择2012年3月~2014年3月于新疆医科大学第一附属医院颌面肿瘤外科接受口服普萘洛尔治疗的血管瘤患儿42例,年龄1~14个月,服药剂量:小于3个月的患儿口服剂量为0.5mg/kg/天;3~6个月的患儿口服剂量为1mg/kg/天;大于6个月的患儿口服剂量为2mg/kg/天。2次/日、饭后30min服药,两次给药间隔6~8h。连续服用1年,服药后1个月、3个月、6个月、9个月、12个月复诊,动态评估患儿瘤体大小、质地、颜色及不良反应,并对出现的不良反应积极处理。以Achauer疗效评定法及服药前后彩色多普勒B超检查结果进行临床疗效评估。结果:42例患儿服药观察12个月后,疗效I级(差)3例,II级(中)16例,III级(好)13例,IV级(优)10例;所有患者均无严重并发症;不同性别、民族、瘤体部位与血管瘤分型治疗效果之间无统计学差异(P0.05);42例患者治疗前PSV(46.47±26.87)与治疗后PSV(17.67±8.05)之间有统计学差异(P0.05);42例患者治疗前RI指数(0.54±0.12)与治疗后RI指数(0.82±0.15)之间有统计学差异(P0.05)。结论:口服普萘洛尔治疗婴幼儿血管瘤作用显著且不良反应轻。     

34例孟鲁司特与布地奈德联合治疗小儿哮喘的疗效分析

目的探讨对哮喘小儿采用布地奈德联合孟鲁司特治疗的效果。方法抽取98例2011年6月日-2012年6月日之间在我院接受哮喘治疗小儿的病历资料,并采用回顾性的方法分析,其中34例患儿采用的是布地奈德联合孟鲁司特治疗的方法,28例采用的是单一孟鲁司特药物治疗的方法,36例采用的是单一布地奈德药物治疗的方法．分别将其命名为治疗组、对照A组和对照B组,3组患儿持续性治疗3个月之后,对所有患儿进行随访,观察和对比3组患儿的治疗成效、复发率以及不良反应情况。结果以上三组患儿在接受治疗之后,患者的各项情况与治疗前相比均得到明显改善,并且治疗组患儿的各项情况要明显的优于对照组（A和B）,三组患儿治疗的有效率分别为94．12％（32／34）、67．86％（19／28）、77．78％（28／36）,治疗组与对照组之间差异具有统计学意义（P〈0．05）。对照A组和对照B组之间仅具有可比性。对照组2例患儿发生了不良反应,进行停药处理后,症状均消失,不具有统计学意义（P〈0．05）。三组患儿的复发率情况分别为2．94％（1／34）、10．71％（3／28）、11．11％（4／36）,治疗组与对照组之间差异具有统计学意义（P〈0．05）。结论在临床治疗过程中,采用布地奈德联合孟鲁司特治疗小儿哮喘具有较好的效果,并且发生药物不良反应的几率也很小,因此,值得将该治疗方法大力推广应用。