先天性无肛畸形HoXA-1 3基因的改变

目的 检测先天性无肛畸形患儿基因组HoxA-13基因的改变。方法 应用聚合酶链反应-单链构象多态（PCR-SSCP）初步检测90例先天性无肛畸形患儿基因组HoxA-13基因第二外显子保守区的碱基改变,50例正常患儿作PCR-SSCP对照;阳性改变患儿PCR产物经DNA测序确定基因突变。结果 经PCR-SSCP及DNA序列分析确定2例高位畸形患者,HoxA-13基因第二外显子第158bp发生了点突变（T→G）,因为相对应的氨基酸也发生了改变（异亮氨酸→丝氨酸）,因而是有了点突变。结论 某些先天性肛门直肠畸形患儿HoxA-13基因保守区发生点突变,HoxA-13基因可能是先天性肛门直肠畸形的易感基因之一。     

腹腔镜直肠代阴道肛门成形术治疗先天性肛门闭锁直肠前庭瘘并苗勒管发育不全综合征二例

肛门直肠畸形的发生率约为1/3500,其中先天性肛门闭锁前庭瘘是女性肛门直肠畸形中常见的类型。阴道及子宫不发育或发育不良即苗勒管发育不全综合征(Mayer-Rokitanski-Küster-Hauser,MRKH)通常表现为原发性无月经,在出生女婴中发病率约为1/4000~5000。Levitt等[1]报道在肛门直肠畸形前庭瘘的患儿中阴道畸形的发生率为0.6%。同时报道在子宫阴道发育异常的患儿中直肠前庭瘘的发生率为9.5%[2]。Wang等[3]总结病例发现在MRKH中直肠肛门闭锁前庭瘘的发病率为2.25%。我科近年收治了2例先天性肛门闭锁前庭瘘合并MRKH患儿,均一期行肛门成形,直肠前庭瘘代阴道成形术,现报告如下。     

基因芯片筛选先天性肛门直肠畸形相关基因

目的 应用基因芯片筛选先天性肛门直肠畸形(ARM)的相关基因.方法 用Affy-metrix U133 Plus 2.0表达谱芯片对2例高位肛门直肠畸形直肠末端及1例死于非胃肠道疾病患儿直肠末端组织的基因表达谱进行分析.应用RT-PCR的方法对筛选出的7个表达差异基因进行了表达水平的实验验证.结果 肛门直肠畸形直肠末端与正常直肠末端组织中表达差异在2倍以上的基因有776条,其中ARM下调的基因有399条,上调基因377条.差异表达4倍以上的基因259条,其中ARM下调的基因有150条,上调的基因109条.RT-PCR技术验证的7个差异表达基因中,RHOB、HOXA5基因在高位肛门闭锁患儿直肠末端组织中的表达水平高于正常对照,而SOX11、MMP7、SALL1、NKX3-1和EPHB2基因在高位肛门闭锁患儿直肠末端组织中的表达水平明显低于正常对照.结论 基因芯片可有效筛查出肛门直肠畸形发生的相关基因,在ARM的发生发展中有多种类型的基因参与.本研究中基因表达谱的实验结果具有较好的可信度和可靠性.应用基因芯片筛查差异表达基因为先天性肛门直肠畸形的病因及病理生理学研究奠定基础.     

先天性肛门直肠畸形伴发泌尿消化道重复等多发畸形一例

笔者报告1例先天性肛门闭锁患儿合并直肠重复及双肾双输尿管畸形等8种共存畸形。 患儿,男,7个月,孕1产1,足月顺产,出生体重3.2kg。因出生后发现肛门闭锁,尿道中见有胎粪排出而在当地医院行乙结肠造瘘,正常喂养至7个月时来本院行根治手术。入院后行B超和MRI及静脉肾盂造影、逆行膀胱造影和结肠造影等检查,发现患儿肛门闭锁合并多种畸形,诊断为先天性肛门闭锁,直肠膀胱瘘,直肠重复畸形,右肾缺如,左双肾双输尿管畸形(左肾无积水),左巨     

先天性直肠肛门畸形影像学检查的研究进展

直肠肛门畸形为先天性畸形中较常见的一种,活婴发病率约1/5000。当合并其他先天性畸形如脊髓、椎管及泌尿生殖系统畸形时,常被称为尾部退化综合征,该综合征由Duham el于1961年首先报道,并定义为骨骼、泌尿生殖系及直肠肛门系贯性畸形,一方面表现为无足并腿畸胎,另一方面为肛门闭锁,对这种复杂先天性畸形儿的研究使人们认识到由于尾区胚胎发育受阻导致不同程度的畸形,通过人胚胎组织发育过程中尾区三维成像显示尾神经管与直肠肛门具有同源性,进一步揭示这种复杂畸形的相关联性。根据1984“W ingspread”分类,直肠肛门畸形分为高、中、低三类…     

小儿肛门直肠畸形术后排便功能障碍的防治

肛门直肠畸形术后排便功能障碍主要表现为大便失禁和便秘。尽管近年来随着手术技术的提高和方法的改进，先天性肛门直肠畸形术后疗效已有明显的改善，但由于肛门直肠畸形的病理改变很复杂，仍有约1／3的肛门直肠畸形患儿术后有不同程度的排便功能障碍。国外学者报告肛门直肠畸形患     

骶骨曲率在先天性肛门直肠畸形分型中的应用分析

目的:评估骶骨发育异常在先天性肛门直肠畸形诊断中的意义。方法:收集2015年5月至2019年6月在广州市妇女儿童医疗中心诊断为先天性肛门直肠畸形的316例患儿的病例资料。均为男性,确诊时年龄为(5.09±3.97)个月;低位畸形38例,中位畸形181例,高位畸形97例。将低位畸形患儿作为低位组,将中位畸形患儿作为中位组...     

先天性肛门直肠畸形WNT5a基因突变的筛查分析

目的 探讨WNT5a基因突变与先天性肛门直肠畸形(anorectal malformations,ARMs)发生的关系.方法 采用PCR和DNA直接测序的方法,检测88例ARMs患儿和120名健康儿童WNT5a基因第1、2外显子突变情况.结果 3例ARMs患儿存在WNT5a基因第2外显子多点突变,正常对照组未见突变发生.结论 WNT5a基因第2外显子的突变与ARMs可能存在相关性.     

先天性肛门直肠畸形Hoxd 13基因表达的研究(英文)

目的：检测Hoxd 13基因在肛门直肠畸形病人和正常人的直肠末端表达状况 ,探讨Hoxd 13基因与人类先天性肛门直肠畸形发生的关系。方法：应用RT -PCR方法检测Hoxd 13基因在 16例肛门直肠畸形患儿和 5例正常儿童直肠末端的表达水平。结果：Hoxd 13基因mRNA在先天性无肛畸形直肠末端表达水平明显低于正常直肠末端的表达 (0 .32± 0 .36vs 0 .73± 0 .10 )。 (P <0 .0 1)。结论：Hoxd 13基因表达可能与人类先天性肛门直肠畸形的发生有关     

肛门直肠畸形合并先天性巨结肠的诊治

目的 总结儿童先天性肛门直肠畸形(ARM)合并先天性巨结肠(HD)的临床特点,探讨其病因和适宜的诊治方法.方法 回顾性分析2004年1月至2008年4月6例ARM合并HD患儿的临床资料、诊治过程及预后情况.年龄1岁8个月～1I岁,平均4.1岁;男女比例1:5.所有病例于ARM矫正手术后有不同程度便秘、腹胀等症状,钡灌肠显示结直肠均有显著的扩张,仅有2例可见明确痉挛段和移行段.6例患儿直肠肛管测压直肠肛门抑制反射不能引出.2例采用经肛门Soave术式,4例采用经腹肛门Soave巨结肠根治术.结果 术后病理检查6例标本远端肠壁内均未见神经节细胞.免疫组化组织蛋白酶D:近段阳性,远端阴性.结论 对于ARM患儿,特别是对于ARM畸形矫正术后仍有便秘的患儿要警惕合并HD的可能.此外,ARM合并HD患儿往往同时存在有多种畸形,在胚胎发育过程中这些畸形的发生可能存在着一定的关联.     

Resurgence of measles in Singapore: profile of hospital cases

OBJECTIVE: To ascertain the profile of cases of measles seen at a general hospital during a recent outbreak that occurred despite a measles vaccination program. METHODOLOGY: A retrospective study from January 1991 to March 1998. All patients with measles (ICD code 055. 9) seen at the emergency unit or as inpatients were included. RESULTS: There were 87 cases identified. The diagnosis was clinical in all and proven serologically in 71%. Eighty-five per cent of the cases occurred between January 1997 and March 1998. There was a bi-modal age distribution with peaks in the very young (相似文献   

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

A profile of respiratory symptoms in urban and rural South Australian school children

This report describes the cross-sectional analyses of data from the first year of a longitudinal study using questionnaire and respiratory function data over a 5 year period from a sample of rural South Australian school children. The cumulative or lifetime prevalences of respiratory symptoms were estimated in 825 rural and 1261 urban school children aged between 5 and 15 years in order to determine if the prevalence rates differed between rural and urban school children. The study found the overall cumulative prevalence of asthma and/or wheezy breathing (AWB) to be 24.1% in the rural school children compared to 27.6% in the urban school children. Most children developed AWB symptoms before the age of 7 years, with 20% reporting moderately severe symptoms and 10% having more than one attack per fortnight. The cumulative prevalence of bronchitis, loose/rattly cough (BLRC) differed significantly between the rural school children (34.1%) and urban school children (47.9%). The BLRC symptoms preceded the development of AWB in many cases. Urban school children also reported a higher prevalence of atopic conditions.     

Hauttemperaturen verschiedener Körperoberflächenareale des Rumpfes bei Säuglingen

Summary In two groups of infants (3–53 weeks old) skin temperatures were controlled in different areas of the trunk—i.e.: regions of sternum, lungs, heart, liver, spleen, kidneys—at different room-temperatures (group I: 21–25°C; group II: 29–32°C). Rectal temperatures of some probands in both groups also had been controlled simultaneously. A definite change in the reaction to heat was proofed in different periods of the first year of life. In higher environmental temperatures the skin temperature was almost constant at every controll-point of the skin, even in older infants. In lower environmental temperatures the skin temperatures lowered continuously with age till 7. to 9. moth. From 10. to 12. month the lowering of skin temperature discontinued. The rectal temperatures were relatively constant in all infants. Only in infants from 7. to 12. month, whose skin temperatures were controlled in lower as well as in higher environmental temperatures, a tendency to higher rectal temperatures was proofed in warmer environmental temperatures.The significance of these results is discussed.

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Untersuchungen mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

Psychopathologie du syndrome d’Asperger et « aspérigisation » de la société contemporaine

The author has attempted here to point out, just for a start, the characteristics of Asperger syndrome from the point of view of psychopathology through a rereading of Hans Asperger's original paper (1944). This thesis merits reevaluation, if for no other reason than to fill the gaps in operational diagnostics based on the DSM. It is found by rereading that Asperger's view of the principal disturbances of autistic psychopathy include a “disturbance of natural evidence” or a “crisis of common sense”. This question of natural evidence that he evokes with regard to autistic psychopathy corresponds to W. Blankenburg's natural evidence, which constitutes a key concept for comprehending schizophrenia in the form poor-symptom (“symptomarme Schizophrenie”) that he observes in the speech of his patient Anne Rau. One can deduce from this that in terms of fundamental disturbances, Asperger syndrome and this “symptom-poor” schizophrenia overlap at the level of loss of natural evidence. It is moreover possible to classify Asperger syndrome among the disturbances of spacing in the sense meant by the evolutionary psychiatry of A. Stevens and J. Price. The author then develops our comprehension of Asperger syndrome from the point of view of the perspective proposed by the notion of resilience in people with Asperger syndrome and of the possibility for them, through these mechanisms of adaptation, to find in the organization of the personality of the “as if” type a position of relative equilibrium. They concur or overlap in the creation of crutches, of borrowed personalities secondarily legitimated by the reaction of the socius. This will end up in the production of inventions and œuvres (works). Clearly, one rarely encounters several cases that one could consider pertinently to be “successful” Asperger syndrome. Finally, the author notes that one can find a sort of isomorphism between Asperger syndrome and contemporary society when he proposes the term “asperigisation” to characterize our society, given that the equilibrium between emotion and logic is strongly disturbed in these patients, in whom logic undergoes hypertrophy while emotion is impoverished. From this perspective, the author hopes to suggest reasons for the increase in the number of cases of Asperger syndrome in the clinical setting and in society in general in our contemporary era.     

Bibliometric data: a disaster for many non-American biomedical journals

Bibliometric data published by the Institute of Scientific Information in Philadelphia (ISI), and which was previously discussed in Acta Paediatrica , has increasingly been used despite all the relevant and severe criticism that has been raised against this method of evaluating individual research results and grading scientific journals. It is obvious that the present trend regarding the use of bibliometric data as a basis for priorities and funding of research and for the promotion of individual scientists favours American-oriented research projects at the expense of those that are based on concepts of predominantly European relevance.

Conclusion: For the future of non-American research, it is important that no single super-power, i.e. the USA, should dominate scientific priorities. The condition for efficient European competition is that European Centres with high levels of competence for creative research and training of scientists from all over the world are established. In addition, it is important that the results of European research are published in prestigious European journals, as was the situation before World War II.     

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.