影响甲基丙二酸血症患儿临床疗效及预后的分子生物学机制分析

目前已报道有5种基因突变类型(mut0、mut-、cblA、cblB、cblD2)可导致甲基丙二酸血症,有4种基因突变类型(cblC、cblD、cblF、cblJ)可导致甲基丙二酸血症合并同型半胱氨酸尿症;cblX基因(HCFC1)突变导致X-连锁的甲基丙二酸血症合并同型半胱氨酸尿症。cblA型甲基丙二酸血症预后最好,cblC型甲基丙二酸血症合并同型半胱氨酸尿症是中国人群中多见的疾病类型。甲基丙二酸血症、甲基丙二酸血症合并同型半胱氨酸尿症患者的临床治疗效果及预后与基因型有密切联系。及早通过基因分型进行分子诊断,可以明确诊断,对指导治疗、判断预后以及对下一胎进行产前诊断具有重要意义。     

甲基丙二酸血症临床诊治研究进展

甲基丙二酸血症是先天性有机酸代谢异常中最常见的疾病,为常染色体隐性遗传,临床表现无特异性,以喂养困难、反复呕吐及嗜睡、惊厥、运动障碍等神经系统症状为主。诊断依靠串联质谱检测血酰基肉碱和气相色谱-质谱检测尿甲基丙二酸。维生素B₁₂治疗有效并伴有同型半胱氨酸血症的患儿,治疗以维生素B₁₂、左旋肉碱和甜菜碱为主,预后较好;维生素B₁₂治疗无效型患儿,给予去除异亮氨酸、缬氨酸、苏氨酸和蛋氨酸的特殊配方奶粉及左旋肉碱治疗为主,预后较差。     

新生儿甲基丙二酸血症3例临床分析

<正>甲基丙二酸血症(methylmalonic acidemia,MMA)又称甲基丙二酸尿症,是先天性有机酸代谢异常中最常见的疾患,属于常染色隐性遗传病,主要是由于甲基丙二酰辅酶A变位酶(MCM)或共辅酶钴胺素(VitB12)代谢缺陷所致。此病临床表现缺乏特异性,而在我国由于认识及生化检查技术的不足,甲基丙二酸血症的诊断、治疗存在许多困难,笔     

一例甲基丙二酸血症伴同型半胱氨酸血症合并癫痫患儿的护理

甲基丙二酸血症为先天性遗传代谢性疾病,该病少见,发病急、进程快,如未能及时诊断治疗,可导致全身各器官受累。针对病情特点,我们制定了个性化护理方案,给予相应的护理措施,使患儿的病情得到了控制。     

重症甲基丙二酸血症患儿的护理管理

作者回顾分析该院PICU2004年5月-2011年10月甲基丙二酸血症3例患儿的临床资料及护理情况。由于该病少见,因而容易误诊、漏诊,严重影响儿童生长发育。因此密切观察病情,加强早期认识,及早诊断,予以综合治疗、防止感染、加强健康教育等综合护理管理,是该病治疗的重要措施。     

新生儿甲基丙二酸血症6例临床分析

目的：提高儿科医生对甲基丙二酸血症（methylmalonic acidemia,MMA）的认识,减少误诊率。方法：对本院6例MMA新生儿患者的临床资料进行回顾性分析。结果：6例主要临床特点为喂养困难、反应差、反复黄疸、肢体震颤、血小板减少、贫血、高氨血症等。应用气相色谱/质谱联用分析法（GC/MS）行尿有机酸分析均发现尿甲基丙二酸明显增高。确诊后4例给予大剂量VitB12应用,限制蛋白质摄入量。出院前2例临床症状明显改善,随访营养、体格发育良好,2例随访肌张力低、发育迟缓,2例确诊前放弃治疗后死亡。结论：新生儿MMA临床特点不典型,对症治疗效果差时应及早行血、尿有机酸检测明确诊断,使更多的患儿得到及时诊断和治疗。     

维生素B_(12)缺乏导致继发性甲基丙二酸尿症9例临床分析

[目的]探讨婴幼儿继发性甲基丙二酸尿症的临床特征、诊断和治疗方法. [方法]对9例继发性甲基丙二酸尿症患儿的临床表现、生化特点、诊疗经过以及其营养状况等资料进行回顾性分析. [结果]临床表现主要有不同程度的巨幼红细胞性贫血9例,智力运动发育落后或倒退8例、惊厥4例、嗜睡4例、发作性呕吐及喂养困难3例、肌张力异常8例等.代谢性酸中毒6例,高氨血症5例.全部患儿血清维生素B12浓度低于正常而尿甲基丙二酸浓度明显增高.经维生素B12、叶酸补充治疗后,7例发育正常,2例遗留轻度智力损害. [结论]维生素B12缺乏导致甲基丙二酸尿症的临床表现与遗传性甲基丙二酸尿症相似.早期诊断及维生素B12、叶酸补充治疗是改善预后的关键.     

甲基丙二酸血症的临床特点及基因型与临床表型关系的探讨

目的 探讨甲基丙二酸血症的临床特征,治疗前后血氨基酸、尿有机酸的变化及基因型与临床表型的关系。方法 对中国医科大学附属盛京医院发育儿科2011年8月-2012年12月10例确诊的甲基丙二酸血症患儿的临床资料,血氨基酸、尿有机酸及基因结果进行分析。结果 10例患儿的发病年龄为出生5 d~2岁5月,主要临床表现包括喂养困难2例,体重不增1例,反复呕吐2例,顽固性抽搐1例,发育落后3例,发育倒退1例,肌张力异常3例。代谢性酸中毒3例,血氨增高7例,伴同型半胱氨酸增高6例。头部MRI典型改变3例,非特异性改变4例。VitB12 有效型尿MMA平均下降倍率为6.45倍,血丙酰肉碱(C3)为2.05倍,血丙酰肉碱/乙酰肉碱(C3/C2)为1.64倍。4例患儿检测到相关基因突变,基因分型3例为cblC亚型,1例为mut-亚型。 结论 甲基丙二酸血症除了表现为非特异性临床特征以外,易发生代谢性酸中毒、高氨血症和同型半胱氨酸血症;头部MRI既可以为典型改变也可以为非特异性改变;尿MMA可作为VitB12治疗有效的敏感指标;基因检测可进一步帮助临床分型、估计预后及产前诊断。     

98例甲基丙二酸血症患儿的临床分析

目的探讨分析98例甲基丙二酸血症患儿(methylmalonic acidemia,MMA)的临床特点。方法以随机抽选的模式在本院2016年5月—2017年5月收治的MMA患儿中抽选98例,对其就诊资料进行回顾性分析。收集患儿尿液样本以及干血滤纸片,分别采用气相色谱—质谱联用分析(gas chromatography and mass spectrometry,GC-MS)和液相色谱—串联质谱分析(liquid chromatograph-mass spectrometer/mass spectrometer,LC-MS/MS)进行有机酸测定以及酰基肉碱谱测定,观察并统计检测结果。同时观察患儿肝肾功能、血乳酸、血气分析、血糖、尿常规、血氨以及血常规等常规辅助检查结果。结果 98例MMA患儿的疾病确诊在3 d~12岁间,患儿主要的临床表现囊括9例发作性呕吐,19例间断抽搐,11例智力、运动落后,15例乏力、下肢水肿,6例贫血,14例皮肤黄染,15例嗜睡以及9例反应弱。患儿各项检查指标水平结果包含14例尿常规异常,13例心肌酶谱异常,9例血气分析异常,13例血乳酸升高,14例肾肝功能异常,5例血氨升高,15例不同程度的红细胞计数减低以及15例血糖降低。患儿采用GC-MS尿有机酸分析发现其甲基丙二酸指标为0.09~89.21mmol/(mmol·Cr)。通过LC-MS/MS可发现,90.81%的患儿丙酰肉碱(C3)、丙酰肉碱与游离肉碱比例值(C3/C0)以及丙酰肉碱与乙酰肉碱比值(C3/C2)较正常儿童相应指标高出2~3倍,9.19%的患儿仅有C3/C2增高。结论临床上可根据患儿的临床症状、实验检测指标水平异常现象,并结合GC-MS、LC-MS/MS的检测结果,诊断甲基丙二酸血症患儿病情起到重要的辅助作用,有效提高其诊断结果的准确性,具有较好的临床价值,值得采纳。     

重度贫血和肾上腺皮质功能减退症为首发症状的危重型甲基丙二酸血症1例

<正>甲基丙二酸血症(methylmalonic academia,MMA)为儿童常见常染色体隐性遗传的有机酸血症，发病率为0.79%～6.04%^[1]。以血液和/或尿液中MMA的升高为主要特征，根据同型半胱氨酸水平将其分为MMA合并型及单纯型MMA，我国主要发病类型为MMA合并型，而MMACHC基因突变导致的cblC型是合并型的主要病因^[2],MMA在临床中有一特殊类型“危重型MMA”，其临床特征及基因型复杂多样，发病年龄多小于1岁，病死率、致残率高。     

Determination of Urinary Trace Elements (Arsenic,Copper, Cadmium,Manganese, Lead,Zinc, Selenium) in Patients with Blackfoot Disease

To determine the relationship of arsenic, copper, cadmium, manganese, lead, zinc and selenium to Blackfoot disease (BFD, a peripheral vascular disorder endemic to areas of Taiwan, which has been linked to arsenic in drinking water) the authors measured the amount of these substances in urine from BFD patients, using atomic absorption spectrometry. Results indicate significantly higher amounts of urinary arsenic, copper, cadmium, manganese, and lead for BFD patients than for normal controls, also significantly lower urinary zinc and selenium.     

Determination of urinary trace elements (arsenic, copper, cadmium, manganese, lead, zinc, selenium) in patients with Blackfoot disease

To determine the relationship of arsenic, copper, cadmium, manganese, lead, zinc and selenium to Blackfoot disease (BFD, a peripheral vascular disorder endemic to areas of Taiwan, which has been linked to arsenic in drinking water) the authors measured the amount of these substances in urine from BFD patients, using atomic absorption spectrometry. Results indicate significantly higher amounts of urinary arsenic, copper, cadmium, manganese, and lead for BFD patients than for normal controls, also significantly lower urinary zinc and selenium.     

发育性协调障碍儿童运动控制缺陷机制的研究

儿童发育性协调障碍是一种发病率较高的发育障碍性疾病,它严重威胁着学龄儿童的身心健康。而且,由于儿童发育性协调障碍临床表现的多样性,与其他疾病的高并发率以及亚型分类上的不一致导致其发病机制至今未明。该文将以运动控制学理论作为研究视角,探索儿童发育性协调障碍的感觉-运动缺陷和运动计划能力障碍等发生机制,为病因学的研究提供线索。     

2012—2018年重庆市精神障碍死亡率及疾病负担变化趋势

目的 了解重庆市精神障碍死亡率与疾病负担变化趋势,为开展精神障碍防治工作提供建议。 方法 收集2012—2018年重庆市精神障碍死亡个案,分析死亡率、标化死亡率、早死导致寿命损失年率、平均寿命损失年和年度变化百分比(annual percent change, APC)。不同性别、不同地区间死亡率的比较采用χ²检验,率的趋势变化采用APC,对其检验采用t检验。 结果 重庆市精神障碍死亡率与标化死亡率分别由2012年的1.86/10万、1.63/10万上升至2018年的2.66/10万、2.04/10万,APC分别为6.61%与4.29%,死亡率变化趋势差异有统计学意义(t=3.00,P=0.030)。各年度男女精神障碍死亡率差异均无统计学意义(P>0.05)。城市与农村精神障碍死亡率比较发现,2014年与2016年农村死亡率高于城市,2018年城市高于农村,差异均有统计学意义(P<0.05)。精神障碍死亡率随年龄的增长而上升。重庆市精神障碍早死所致的寿命损失年率(years of life due to premature death, YLL)波动于0.47‰～0.58‰,平均寿命损失年(average years of life lost due to premature death,AYLL),由2012年的26.08年下降至2018年的17.83年,APC为-6.67%,变化趋势有统计学意义(t=7.09,P=0.001)。 结论 2012—2018年重庆市精神障碍死亡率呈上升的趋势,高于其它省市精神障碍死亡率,平均寿命损失年呈下降的趋势,精神障碍纳入社区管理成效明显。     

The Prevalence of von Willebrand disease in women with abnormal uterine bleeding

Although a common symptom of von Willebrand disease is menorrhagia or metrorrhagia, the prevalence of this inherited bleeding disorder in women with heavy bleeding is not known. This pilot study compared the prevalence rate of von Willebrand disease in women with dysfunctional uterine bleeding with the prevalence rate in the general population. On average, these women bled for 11.5 days per month and experienced heavy bleeding for >16 years. Over 60% had been treated previously for heavy bleeding. One woman was diagnosed with type 1 von Willebrand disease (5% prevalence rate). Larger studies are needed to confirm this increased rate of von Willebrand disease in women with abnormal uterine bleeding.     

广州市白云区育龄妇女妇科常见病的调查分析

目的:了解广州市白云区育龄妇女妇科常见病的患病情况及相关的影响因素。方法:3年来对辖区25～50岁的65 420例育龄妇女进行定点、定时的妇科普查、普治工作,有关数据应用SPSS/PC 10.0软件进行统计分析。结果:广州市白云区妇科常见病患病率为63.53%(41 560/65 420),患病率顺序依次为:生殖道感染,乳腺疾病,盆腔肿物,月经紊乱。生殖道感染以工厂组患病率最高(P<0.05),而乳腺疾病和月经紊乱则公务员组患病率最高(P<0.05,P<0.001)。外来流动人口的生殖道感染患病率显著高于常驻人口(P<0.05)。结论:流动人口育龄妇女中妇科疾病的患病率较高,应加强针对性的妇女生殖健康教育,对相关影响因素进行有效的预防和干预。     

Diabetes mellitus: current concepts in diagnosis, classification and coding

Diabetes mellitus (DM) is a chronic disorder of metabolism, which is commonly found in the Puerto Rican population. In this article the current concepts in diagnosis, classification and correct coding of DM are discussed. Since the cutoff point for diagnosing DM was lowered to 126 mg/dl in a fasting plasma glucose levels, many persons may be undiagnosed unless physicians are aware of this fact. Once diagnosed, strict control of the disease is mandatory to prevent the chronic diabetic complications. It is very important to classify and code the persons with DM accurately. This practice will help researchers, physicians, health insurance managers and other persons to assess the prevalence of DM and its complications. This will eventually lead to better management of this important disease.     

Williams syndrome: new insights into genetic etiology, pathogenesis and clinical aspects

Williams syndrome (WS) is a developmental disorder characterized by distinct facial features, congenital heart disease, mental retardation and a gregarious personality. The majority of people with this disorder have a submicroscopic deletion of genes in chromosome band 7q11.23. This deletion can be detected using fluorescence in situ hybridization (FISH). Although the condition is usually sporadic a few familial cases with autosomal dominant inheritance have been described. A clinical scoring system has been developed by Selicorni with which a diagnosis of 'Williams syndrome' can be made; in all patients in whom the diagnosis was made in this way FISH results were positive.     

A clinic and a paraclinic study of Tunisian population of children with autism. About 63 cases

Autistic disorder is a pervasive developmental disorder which starts before the age of 3. The clinic features of autism are variable; the autonomy degree, the speech quality, the mental retardation associated and specially the existence of an organic disease change its clinic expression. A good knowledge of the basic signs is important to put diagnosis.This work, propose to describe a clinic and a Para clinic profile of Tunisian population of children with autism. The study included 63 children referred to the child psychiatry department between January 1998 and September 2003 and diagnosed with autistic disorder according to DSMIV and ADI-R criteria.The population profile studied is drawn as following : The sex ratio was of 3/1, the average age was of 8 years+/-3 years. Parents were related in 39.3% of cases. On the clinical plan, 51.2% of children with autism studied did not have expressive speech. They presented a mental retardation associated in 60.8% of cases. Epilepsy was presented in 21 children out of 63. This profile links literature study except in 2 points: - The rate of relatives with autism (8.6%) is superior to the rate found in literature(3%).This result can be explained by the high rate of consanguinity in the Tunisian studied population (39.3%). - Importance of associated organic pathologies (mental retardation).     

氨基葡萄糖、钙和维生素D在骨关节炎治疗中的作用

骨关节炎(OA)是临床上常见的一种关节炎,致残率高,传统治疗较难延缓病情进展。氨基葡萄糖(GS)不仅可以有效改善OA症状,而且可以抑制疾病进程,有望成为治疗或缓解OA病情的药物。钙和维生素D也会影响OA病情的进展。本文综述了OA治疗的进展及相关临床试验,介绍了GS、钙和维生素D在OA治疗中的作用。