H2O/CO2污染对煤油燃料超声速燃烧影响数值研究

目的 了解衡阳市新生儿中先天肢体畸形(congenital limb malformations,CLM)的病种分布及流行病学特征.方法 整群抽样选取衡阳市南岳区、珠晖区、常宁市和衡山县4个区县,调查2008～2010年间新生儿中CLM的发生情况.根据伴发畸形的性质将CLM病例分为单发和综合征两类,分别计算其发生率,分析病种构成及患儿临床特征.结果 52 307例新生儿中检出170例CLM,总发生率为32.50/104,单发畸形发生率为28.29/104,综合征为4.21/104;其中多指(趾)、马蹄内翻足、并指(趾)和肢体短缩的发生率分别为13.00/104、9.56/104、5.16/104、3.63/104.CLM总发生率及病种发生率无城乡、性别和孕妇年龄别差异.多指(趾)、并指(趾)、肢体短缩三种畸形发生在上肢、下肢、上下肢的比例分别为68.14％、14.16％、17.70％.综合征CLM患儿中早产、低出生体质量、死胎死产及新生儿期死亡多于单发CLM患儿.结论 衡阳市先天肢体畸形发生率和病死率高,需采取有效措施预防疾病,提高患儿的生存质量.     

衡阳市多指(趾)畸形的流行病学特征与防治现状分析

目的了解衡阳市先天性多指(趾)的流行病学特点及防治现状.方法采用2008-2011年期间以人群为基础的出生缺陷监测数据分析单发和综合征多指(趾)的流行病学特点和临床特点.追踪随访患儿至生后1岁,了解其结局及矫治情况.结果衡阳市多指(趾)畸形发生率为12.49/万,其中单发和多发畸形的发生率分别为11.66/万和0.82/万;婴儿期病死率分别为2.35%和50%.发生在手部单侧的畸形较双侧高出5倍;发生在足部单侧的畸形较双侧高出70%.83.5%的单发多指(趾)和33.3%的综合征多指(趾)患者进行了外科矫形治疗.单发多指(趾)畸形一次性治愈率达99.61%.结论衡阳市先天性多指(趾)发生率高,应积极采取措施加强畸形的预防和矫治.     

多指(趾)畸形的流行病学分析

目的 了解我国围产儿多指(趾)畸形的流行病学特征。方法 中国出生缺陷监测网采用以医院为基础的监测方法,于1996～2000年在全国31省(市、区)监测医院内对孕满28周至产后7d的围产儿进行出生缺陷调查。结果 在2218616例围产儿中,共检出多指(趾)2097例,全国平均发生率为9．45／万;城、乡发生率分别为9．60／万和9．05／万;男、女发生率分别为10．99／万和7．48／万。年度发生率呈逐年上升趋势。多指(趾)畸形患儿单发者占88.4％,11．6％合并有其他畸形。畸形发生在肢体左侧占34．96％,右侧占45．62％,双侧同时发生占19．41％。多指(趾)患儿围产期病死率为8．17％,其中单发为2．72％,多发为49．38％。结论 我国围产儿多指(趾)畸形男性多于女性,地区差异明显;多指(趾)以单发形式为主,多发畸形患儿病死率高。     

多指、多趾、多肢畸型一例

多指或多趾为先天性畸形中常见的病种，且大多不影响病儿的发育及肢体的活动。但多指、多趾、多肢畸形发生在同一病例的在临床上尚未见有报导。本院收治一例右手为六指，下肢为三肢，且多余的肢体为七趾的新生儿。     

先天性束带综合征1例

1 临床资料 患儿,男性,1周,足月顺产,因"上呼吸道感染,肢体畸形"收治于八一儿童医院.查体:右食指、中指、环指发育异常,均明显短缩,各指末节发育不良;右中指环指远端粘连并指畸形,并可见半环状紧缩皮沟;右侧马蹄内翻足畸形;右足2、3、4趾畸形,3、4趾可见明显皮沟;肢体远端无明显肿胀,余未见明显肢体畸形.诊断为先天性束带综合征.     

Y字形跖骨并双足6趾畸形1例

重复畸形是肢体、手或手指重复发生的畸形,也是肢体数目增多的结果,发生在手指、足趾的重复畸形又称为多指(趾)畸形.多指(趾)畸形多为显性遗传,出生后逐渐生长[1].足部畸形趾多为单发,赘趾多发生在第5趾或拇趾外侧,生于内侧者少见[2].有时赘趾于正常趾相连或部分相连,可有或无趾蹼.我科于2015-03-10收治有遗传倾向的先天性双足内侧Y字形跖骨并多趾畸形1例,报告如下.     

中国人群裂手裂足畸形的流行病学特征

目的 探讨中国人先天性裂手/裂足畸形(SHFM)的流行病学特征和临床特点.方法 通过中国出生缺陷监测网络获得SHFM研究资料,把病例分为单发(仅有SHFM或者伴发其他肢体畸形)和综合征(SHFM伴发其他非肢体畸形)两类,分别按围产儿性别、居住地(城/乡)计算其发生率.并分析患儿的出生孕周、出生体质量、围产期转归和畸形发生部位.结果 在4489692例围产儿中诊断出SHFM病例736例,总发生率为1.64/10~4,单发和综合征SHFM的发生率分别为0.64/10~4和1.00/10~4.男性围产儿SHFM发生率为1.79/10~4,女性为1.25/10~4;城镇1.51/10~4,乡村1.86/10~4.SHFM患儿中,未足月分娩和低出生体质量分别占30.20%和43.93%.单发和综合征SHFM的围产期病死率分别为24.74%和66.59%,总病死率为50.27%.SHFM畸形以发生在上肢多见.结论 我国SHFM发生率高于国外报道.较高的围产期病死率与伴发畸形的严重程度有关.     

双手足多指趾伴骈指趾畸形一例

单个多指(趾)畸形或单个骈指(趾)畸形是上(下)肢先天性畸形中较常见的,但双手足有多指趾且伴有骈指趾畸形,实属罕见。本院曾收治1例多指趾伴骈指趾畸形患儿,现报告如下:任××,女,8岁,于1984年2月7日因双手足先天性多生指趾伴骈指趾畸形入院。局部检查:双侧各有2小指骈生,在双侧骈生小指尺侧又各多生1小指,呈枝芽状,约小枣大。双足各有3个(足母)趾骈生,右足2小趾骈     

遗传性双手和双足多指(趾)及并指(趾)畸形一例报告

我科从1976年～1981年共收治多指(趾)及并指(趾)畸形20例,其中一例双手双足均为多(趾)兼并指(趾)畸形,这种病例甚为少见。 临床资料 患儿男性,10个月。发育正常。心、     

双手(足)多指(趾)、并指(趾)畸形1例

正1临床资料患儿男性,6岁。因"双手(足)多指(趾)并指(趾)畸形6年"入院。患儿出生时发现:双手中环指间多指、并指畸形,左小指远指间关节屈曲畸形,伸直不能;双足腓侧多趾、并趾畸形。2手术方法拟先予双手畸形矫正,双足畸形暂不予处理。对患儿进行术后随访,若双手畸形矫正后外观恢复不理想,特别是指间、指甲外观较差者,可考虑移植多余足趾甲床改善手指甲床外观。采用全身麻醉,在气囊止血带下手术。常规消毒双上     

Congenital malformations in singleton and twin births in rural Nigeria

BACKGROUND: The presence of a congenital malformation at birth is a cause of anxiety at an otherwise joyous occasion. Congenital malformations are a significant contributor to perinatal mortality. STUDY DESIGN: A retrospective study of external congenital abnormalities in singleton and twin births in rural eastern Nigeria over a 20 year period. RESULT: The incidence of congenital defects for all deliveries was 110.8/10,000 births. Of 1453 twins and 32206 singleton births, there were 58 and 315 congenital abnormalities, with incidence of 97.8/10,000 births and 399.2/10,000 births respectively. Twins were significantly (x(2) =115.22; p< 0.0000) more likely to have a congenital malformation than singletons (RR 4.08, 95% CI 3.10 - 5.7). The pattern of defects was similar for singleton and twin births and the leading system affected was the musculo-skeletal system, distantly followed by the central nervous system. For both groups the commonest malformation was ulnar polydactyly, followed by hydrocephaly and ankyloglossia. Surprisingly no conjoined twins were recorded and there were only 7 cases of congenital umbilical hernia, abnormalities previously considered to be very common in Nigerians and Africans respectively. CONCLUSION: Twins are about four times more likely to have congenital malformations than singletons. The overall prevalence of congenital malformations recorded is comparatively low. There is need for more detailed routine documentation of all birth defects including post-mortem report and the conduct of prospective population-based epidemiological surveys of birth defects in Nigeria.     

胎儿单纯性上肢畸形的产前超声诊断

目的：探讨产前超声诊断胎儿单纯性上肢畸形的价值。方法：回顾性分析22例胎儿单纯性上肢畸形病例的产前超声声像图特征,结合病史、染色体核型分析、产后及引产后病理结果等进行形态学分类。结果：于孕12^＋3～32^＋4周共检出单纯性上肢畸形胎儿22例,其中13例为左上肢畸形,6例为右上肢畸形,3例为双上肢同时受累。按畸形形态分为3类：先天性手畸形10例,先天性桡骨发育不全或缺如2例,先天性肢体缺陷或截肢10例。17例引产终止妊娠,5例足月活产。结论：产前超声在胎儿单纯性上肢畸形的检出及分类诊断等方面有重要作用。     

皇姑区2004-2007年出生缺陷监测分析

目的：了解本地区出生缺陷的发生情况,探讨影响出生缺陷的因素,制定相应的干预措施。方法：按照辽宁省沈阳市出生缺陷监测方案的要求,对全区的围生儿进行了出生缺陷的动态监测。结果：皇姑区2004-2007年出生缺陷的总发生率为138.62/万（209/15077）;2004-2007年出生缺陷发生率呈上升趋势;男婴发生率1.46%（119/8129）高于女婴1.30%（90/6948）;≥35岁母龄组出生缺陷发生率高于其他年龄组;双胎出生缺陷发生率高于单胎。结论：要广泛开展健康教育,普及优生优育知识,重视并加强婚检和孕前保健,实施出生缺陷干预,减少缺陷儿的发生及出生。     

Effect of Pathoanatomic Diagnosis on the Quality of Birth Defects Surveillance in China1

Objective To provide evidence for more accurate diagnosis of birth defects based on the pathoanatomy of congenital malformations. Methods Data used in this study were obtained from Luliang City Hospital and three county hospitals of Shanxi province between February 2004 and March 2006. Autopsy and pathological examination of 160 dead fetuses and stillbirths were performed. Photos of dead fetuses and stillbirths were taken, tissues were cut into sections for pathological examination under microscope, all pathological information was recorded, and percentage of birth defects was calculated.Results The proportion of dead fetuses and stillbirths with or without congenital malformations was 84.4% (135/160) and 15.6% (25/160), respectively. There were 16 categories of major external and internal birth defects in 135 cases of such defects.Congenital heart defects, anencephaly and spina bifida had a higher prevalence rate in the study period. The prevalence rate of non-malformation death and birth defects < 28 gestational weeks and internal anomalies≥ 28 gestational weeks was 14.61% (61/4175) and 17.25% (72/4175), respectively. A total of 413 in situ anomalies were found in 135 cases of autopsy. Spina bifida,anencephaly, congenital heart defects, aplasia or accessory lobe of lung, renal agenesis and dysplasis and congenital hydrocephaly were more closely associated with severe malformations than with mitis malformations. The cases of dead fetuses and stillbirths with multiple malformations (≥ 2 in situ anomalies) had a higher proportion (74.1%), whereas those with isolated malformations had a lower proportion (25.93%). Conclusion The occurrence of congenital malformations in different embryonic developmental stages affects multiple organs. Postmortem examination of internal and multiple malformations of fetal deaths and stillbirths can provide more accurate diagnostic information for birth defects.     

北京61272例新生儿出生缺陷监测结果分析

Objective: To investigate the birth defect condition in Haidian district of Beijing city, 61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are analyzed. Methods: Data was collected from the hospital' s medical records and from the birth defect surveillance. Results: Among the newborns studied, 1 076 were found having birth defect (17.56‰). The most common birth defects are congenital heart defect, followed by dysmorphosis of external ear, polydactyly, hypospadia, cleft lip and palate. In addition, three birth defects that are not included in the birth defect surveillance list were enorchia, renal agenesis and giant hemangioma. The birth defect rates of preterm and small for gestational age infants are significantly higher than it of the term infants. The birth defect patterns for these two types of abnormal infants are distinct. Conclusion: We have determined the pattern of birth defects in Beijing, which may help in policy-making regarding the prevention and intervention of birth defects.     

The Operative Incidence of Syndactyly in Northern Ireland. A 10-Year Review.

BACKGROUNDSyndactyly is a common congenital condition that can present sporadically or in relation to an underlying genetic condition. Little contemporary published data exists detailing specific rates of presentation and surgical intervention, especially in Western European population. This is the first published review of operative intervention rates for the condition over time in Northern Ireland.METHODSA ten-year retrospective review of electronic operative records from January 2007 - October 2017 was carried out within Northern Ireland''s regional tertiary centre Royal Belfast Hospital for Sick Children (RBHSC). All congenital hand surgery in the country was performed here during the period reviewed, by a single surgeon. Patient age at surgical intervention, their sex, digits involved and clinical grade of syndactyly was recorded.RESULTSOne hundred and twenty four cases were returned following the review. On individual analysis 22 cases were excluded as they were not primary congenital syndactyly. The remaining 102 cases were all Caucasian. Six cases were toe syndactyly while 96 cases involved the upper limb digits. The group consisted of 70 males and 32 female infants. Age range at time of surgical intervention was 8 months to 14 years with a median age of 26 months. For clinical grade of upper limb syndactyly; 35 cases in the data set were classed as simple incomplete, 34 cases as simple complete, 17 as complex and 5 cases as complicated syndactyly. The remaining 5 cases lacked clear documentation. The most common site of syndactyly was between the ring and middle finger (40/102). Annual frequency of operative intervention has trended upwards in the period studied.CONCLUSIONThis case review adds epidemiological data on the operative incidence of syndactyly cases in Northern Ireland - a relatively isolated genetic population. Overall rates of incidence have increased over the past 10 years. It remains unclear if this is due to new environmental influences on the developing population or increased referral for surgical intervention over time.Levels of evidence - IV (Case Series)     

化学物质诱发的小鼠肢体畸形动物模型的建立

目的：建立发生率稳定、畸形类型特异和易于获得的化学物质所致小鼠肢体畸形动物模型。方法：采用致突变性致畸物N—甲基—N’—硝基—N—甲基亚硝基胍(N—methyl-N‘=nitro-N-nitrosoguanidine，MNNG)作为受试物，观察不同剂量和不同给药时间的胎鼠畸形率、畸形类型及特征。结果：孕期第12天一次给予MNNG 40mg/kg时，胎鼠畸形类型主要为肢体畸形，肢体畸形率以活胎计为33.7％(3l／92)，以窝计为8l.8％(9／11)，肢体畸形占畸形胎鼠的构成比为l00％。畸形类型以短指(趾)和缺指(趾)最常见。四肢畸形的发生率和严重程度存在不对称性，依次为左后＞左前＞右后＞右前。掌跖骨缺失和骨化不全发生率较高，此外还有胫腓骨的缺失和骨化不全，特别是大体形态所见短肢是胫腓骨缺失所致。结论：成功建立了小鼠肢体畸形动物模型，为进一步研究肢体畸形的分子机制奠定了基础。     

169例围产儿出生缺陷监测结果分析

目的：分析围产儿出生缺陷发生的情况,提出干预措施,为早期发现缺陷儿,提高产前诊断技术提供参考。方法：对2002年10月1日～2008年9月30日孕28周至产后7d住院分娩的17351例围产儿进行监测。结果：6年共监测围产儿17351例,出生缺陷169例,出生缺陷发生率为9．74‰;出生缺陷位于前5位的是多指、并指（趾）及马蹄内（外）翻足、唇颚裂、先天性心脏病、尿道下裂;出生缺陷的产前确诊率为20．71％;出生缺陷儿母亲以流动、低收入、低文化人群为主体,82．25％的缺陷儿母亲孕早期无明显的致畸因素。结论：加强优生优育宣教,做好产前检查,提高产前诊断技术,减少出生缺陷,提高人口素质。