产前诊断巨大骶尾部畸胎瘤1例

正骶尾部畸胎瘤(sacrococcygeal teratoma,STC)是畸胎瘤中最常见的类型,以新生儿及婴儿期最多见。在活产新生儿中发病率约1/27 000[1]。本院近期收治1例产前诊断新生儿巨大骶尾部畸胎瘤,现结合文献,综合分析其产前诊断、预后因素及手术治疗方案,探讨制订合理的产前指导方案来改善患儿预后,提高该类疾病患儿整体生存质量。     

小儿畸胎瘤的诊治进展（综述）

畸胎瘤(Tentoma)是儿童常见肿瘤之一,本文就近年来对儿童畸胎瘤的一些诊治进展作一概述。 一、胎儿期畸胎瘤的诊断和处理 随着产前超声诊断技术的进步,越来越多的胎儿畸胎瘤经B超获得早期诊断,并使临床医师对胎儿肿瘤的部位及肿瘤对胎儿的影响和预后作出估计。一些报告有25％的骶尾部畸胎瘤于产前经超声检出。除骶尾部畸胎瘤外,颈部、颌面部胎儿畸胎瘤产前获得诊断     

小儿骶尾部畸胎瘤手术治疗经验

骶尾部畸胎瘤(sacrococcygeal teratoma,SCT)是小儿最常见的畸胎瘤,由于病变部位的特殊性,术后均有不同程度的并发症发生[1].本文回顾性分析我院1999年5月至2008年12月收治的41例骶尾部畸胎瘤患儿临床资料,结合盆底局部解剖,探讨盆底重建在SCT手术中的临床意义.     

小儿骶尾部畸胎瘤手术治疗经验

骶尾部畸胎瘤(sacrococcygeal teratoma,SCT)是小儿最常见的畸胎瘤,由于病变部位的特殊性,术后均有不同程度的并发症发生[1].本文回顾性分析我院1999年5月至2008年12月收治的41例骶尾部畸胎瘤患儿临床资料,结合盆底局部解剖,探讨盆底重建在SCT手术中的临床意义.     

胎儿骶尾部畸胎瘤的预后评估研究进展

骶尾部畸胎瘤(sacrococcygeal teratoma,SCT)是并不少见的胎儿及新生儿肿瘤,在出生活婴中发病率是1/40 000～1/35 000,男女比例1∶3～1∶4.通常认为SCT胎儿出生后经手术治疗预后良好,但据文献报道,产前诊断为SCT的胎儿死亡率却高达16％～63％.因此,SCT胎儿的预后评估指标和产前诊疗策略是当前研究的重点.本文对近年来SCT胎儿预后评估的研究进展进行了综述.肿瘤囊实性评分、TFR、STV∶ HV、STVI、肿瘤生长速度与CVPS等是SCT胎儿预后评估的有意义指标,这些指标各有利弊.在临床上,建议同时评估肿瘤囊实性比例与TFR这2个简便易行的指标,有条件的产前诊断中心也可选测STV∶ HV或STVI任一个指标.复查过程应监测肿瘤生长速度.CVPS可用于评估SCT胎儿心力衰竭的发生及进展,以决定干预时机.若SCT胎儿出现进展性高输出型心衰,孕28周前首先考虑胎儿手术,孕28周后可予治疗性早产.目前,SCT胎儿的预后评估尚处于探索阶段,本文所述产前策略亦并不完善,有待更多医学工作者投入研究.     

小儿复发性骶尾部畸胎瘤临床研究

目的 探讨骶尾部畸胎瘤(SCT)复发原因及降低SCT复发率的合理治疗方案。方法 回顾性分析12例复发性骶尾部畸胎瘤(RSCT)疗效。结果 12例RSCT，其中良性7例，恶性5例，施行骶尾路手术切除9例，腹骶尾联合切除3例。5例行化疗。随访1～20年，存活9例，恶性SCT复发转移于术后10月内死亡3例。结论 良性SCT复发主要原因是肿瘤和尾骨残留。恶性复发为瘤组织局部侵蚀，以及淋巴、血道转移。化疗可降低复发和死亡率。     

儿童骶尾部畸胎瘤预后相关因素分析

目的探讨影响儿童骶尾部畸胎瘤(sacrococcygeal teratoma, SCT)预后的相关因素。方法回顾性分析上海市儿童医院2011年3月至2019年4月收治的SCT患儿临床资料, 通过随访患儿术后有无肿瘤复发、排便及排尿功能来评估其预后。将随访过程中出现肿瘤复发、排便及排尿功能异常中一种及以上并发症者归入预后不良组, 无上述情况者归入预后良好组。从手术年龄、肿瘤大小、Altman分型、手术路径、术中肿瘤是否完整切除、肿瘤是否破溃以及肿瘤病理类型等方面分析影响SCT患儿预后的相关因素。结果共收治65例SCT患儿, 其中获得完整随访61例。61例患儿中, 术后出现肿瘤复发7例, 根据Altman分型, Ⅰ型2例, Ⅱ型3例, Ⅲ型1例, Ⅳ型1例;未成熟性畸胎瘤3例, 恶性畸胎瘤4例。术后出现便秘7例, 根据Altman分型, Ⅰ型1例, Ⅱ型2例, Ⅲ型3例, Ⅳ型1例;成熟性畸胎瘤2例, 未成熟性畸胎瘤4例, 恶性畸胎瘤1例。术后出现反复尿路感染3例, 根据Altman分型, Ⅱ型1例, Ⅲ型2例;成熟性畸胎瘤、未成熟性畸胎瘤及恶性畸胎瘤各1例。预后良好组48例, 预后不良组...     

多学科联合诊疗模式对先天性重症膈疝诊治疗效10年评估

目的总结上海交通大学医学院附属新华医院小儿外科实施先天性膈疝(congenital diaphragmatic hernia,CDH)患儿产前-产时-产后-随访程序化多学科综合诊疗模式(multidisciplinary treatment,MDT)10年经验,评估MDT诊疗模式对先天性重症膈疝的诊疗效果。方法收集2001年1月至2018年12月在上海交通大学医学院附属新华医院小儿外科诊治的产前诊断CDH患儿临床资料,包括明确诊断时孕周、娩出孕周、Apgar评分、膈疝类型、出生体重、肝脏位置、血气分析指标、手术方式、呼吸机维持时间和住院周期等。将152例产前诊断为膈疝的患儿纳入分析,其中男80例,女72例,左侧膈疝120例,右侧膈疝32例。将2001年1月至2008年2月收治的产前诊断膈疝病例作为非MDT组;2008年3月至2018年12月收治的产前诊断膈疝病例作为MDT组,进行对比分析。其中非MDT组8例,MDT组144例。MDT组患儿均采取多学科综合诊疗模式,包括产前管理(产前诊断、评估与产前咨询)、产时管理(分娩及抢救)、产后管理及围手术期综合管理。结果非MDT组8例,MDT组144例。135例患儿行手术治疗,非MDT组8人均行经腹开放手术;MDT组患儿中,17例因出生后呼吸、循环衰竭死亡而未行手术治疗,127例行手术治疗,66例经腹开放手术,61例为胸腔镜手术。与非MDT组患儿相比,MDT组患儿手术时间延后(4.8±2.3比1.1±0.4)d,胸腔镜辅助手术比例较大(0比48.0%),且治愈率提高(75.0%比37.5%),组间比较,差异均具有统计学意义(P<0.05)。在性别、出生体重、膈疝类型、膈肌缺损大小分级等方面,两组间的差异无统计学意义。结论应用MDT诊疗模式管理CDH患儿,使CDH的诊断和治疗形成无缝连接,有助于提高治愈率。     

新生婴儿骶尾部畸胎瘤的诊治和预后——单中心104例分析

目的分析总结新生婴儿骶尾部畸胎瘤诊治情况与长期预后。方法收集上海交通大学医学院附属新华医院小儿外科2000年9月至2021年9月间收治的104例年龄<3月龄的新生婴儿骶尾部畸胎瘤患儿的临床资料。男37例, 女67例;平均孕期38.96周, 平均出生体重3 369 g。均在收住院后尽早行肿瘤切除及尾骨切除术, 同时对肿瘤及其边缘进行病理活检。出院后门诊随访每1次, 观察肿瘤标志物甲胎蛋白等指标及影像学复检, 检查患儿生长发育、智力、大小便情况等。分类变量资料采用χ2检验。结果 104例中, 良性成熟型96例(92.31%), 恶性8例(7.69%), 包括2例卵黄囊瘤, 均无转移发生。平均瘤体直径6.93 cm。按Altman分型, Ⅰ～Ⅱ型占82.69%(86/104)。产前诊断率32.69%(34/104), 以孕15～39周产前筛查检出。58例合伴其他畸形, 心血管畸形占91.38%(53/58), 其次为泌尿系畸形8.62%(5/58)。患儿平均住院天数24.18 d。平均随访7.84年, 随访率73.08%(76/104), 无死亡病例, 复发1例。智力差6.58%(5/...     

20例小儿骶尾部畸胎瘤诊断分析

畸胎瘤属胚胎性肿瘤,几乎可发生在身体的任何部位,骶尾部是性腺外畸胎瘤最常见的发生部位。骶尾部畸胎瘤是婴幼儿和儿童时期常见的骶尾部肿瘤,本院2001年5月至2006年5月收治小儿骶尾部畸胎瘤20例,其中13例为良性,3例为混合性,3例为恶性,现就其诊断经验分析如下。     

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.     

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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     

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.     

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.     

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   

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

Overcoming surfactant inhibition with polymers

Inhibition of the function of pulmonary surfactant in the alveolar space is an important element of the pathophysiology of many lung diseases, including meconium aspiration syndrome, pneumonia and acute respiratory distress syndrome. The known mechanisms by which surfactant dysfunction occurs are (a) competitive inhibition of phospholipid entry into the surface monolayer (e.g. by plasma proteins), and (b) infiltration and destabilization of the surface film by extraneous lipids (e.g. meconium-derived free fatty acids). Recent data suggest that addition of non-ionic polymers such as dextran and polyethylene glycol to surfactant mixtures may significantly improve resistance to inhibition. Polymers have been found to neutralize the effects of several different inhibitors, and can produce near-complete restoration of surfactant function. The anti-inhibitory properties of polymers, and their possible role as an adjunct to surfactant therapy, deserve further exploration.     

Understanding infant formula

The World Health organisation recommends breast feeding infants for the first six months of life. When this breast feeding does not occur either through parental choice or medical need, infant formulas will be required. There is a bewildering array of formulas on the UK market for many different requirements. When faced with an unsettled infant many parents (and healthcare professionals) will experiment with the infant formula available and then attend the paediatric clinic looking for help and advice. It is therefore essential that paediatricians understand what milks are available and what the key differences between different products are. This review attempts to provide a simple guide through many of the formulations currently available in the UK; and offers advice for the dietary management of the child with extra calorie requirements, infants with cow's milk protein allergy, gastro oesophageal reflux disease, apparent unresolved hunger and infantile colic. Whatever the underlying condition, there is likely to be an infant formula that is suitable in this generation of ever expanding formulations.