小儿急腹症中的妇科问题

目的：分析小儿妇科疾病引起的急腹症的特征及临床误诊原因，并提出避免误诊的方法。方法：回顾我院外科1990－2001年以急腹症为主要表现的女性小儿生殖系统病例20例，年龄2－14岁，平均10．2岁。其中：卵巢囊肿4例，卵巢畸胎瘤7例，卵巢恶性卵黄囊肿1例，黄体破裂3例，处女膜闭锁2例，盆腔炎2例，原发性痛经1例，结果：术前误诊4例，黄体破裂误诊为阑尾炎2例，卵巢囊肿误诊为阑尾炎1例，处女膜闭锁误诊为盆腔包块1例，手术治疗16例，抗炎止血等保守治疗3例，解痉止痛1例，全部病例均痊愈出院。结论：小儿妇科急腹症分为破裂性疾病，肿瘤和炎症，幼童期1－9岁以肿瘤性疾病为主，青春期9岁以后即要考虑特有疾病如处女膜闭锁以及黄体破裂等，术前要了解科情况，诊断急性阑尾炎有疑问但又确有手术指征时，可以采取腹直肌纵切口。除非证实肿瘤为恶性，否则应尽量保留卵巢。     

女性外生殖器畸形的手术矫治

女性假两性畸形也称女性男性化,患者的染色体为46,XX,性腺为具有正常结构的卵巢,但外生殖器常出现不同程度的男性化倾向。女性假两性畸形最常见原因为先天性肾上腺皮质增生（congenital adrenal hyperplasia,CAH）,     

外生殖器畸形106例患儿病因分析

目的 分析外生殖器畸形患儿的临床特征并探讨其发病原因,以期提高该病的诊疗水平.方法 收集近几年因外生殖器畸形就诊于上海交通大学医学院附属瑞金医院的106例患儿的资料,总结其临床特征、行染色体核型分析及其他辅助检查.部分患儿抽提外周血基因组DNA进行相关基因突变筛查.结果 (1)106例外生殖器畸形患儿表型多样,从单纯阴蒂肥大/单纯尿道口开口异常,到外生殖器呈间性畸形、性别难辨.染色体核型分析:46,XX 42例(39.6％);46,XY 62例(58.5％);2例(1.9％)染色体核型异常.(2)42例46,XX核型患儿诊断为先天性肾上腺皮质增生症(CAH) 40例(95.2％),肾上腺肿瘤1例(2.4％),另有1例(2.4％)患儿性别决定基因(SRY)阳性.(3)46,XY核型中的53例(85.5％)行5α-还原酶2型基因(SRD5A2)、雄激素受体基因(AR)和类固醇生成因子-1基因(SF-1)突变筛查,发现8例患儿存在SRD5A2突变,存在AR和SF-1突变者各1例.(4)2例染色体异常患儿,1例染色体核型为46,XX/46,XY嵌合型;1例为46,XX/46,XY/46,X.+may.ish(DYZ3+)(DXZ1-)嵌合型.结论 (1)CAH是46,XX核型中呈现外生殖器畸形最常见的病因,少见因素如肾上腺肿瘤、SRY易位等.(2)46,XY核型的外生殖器畸形发病机制复杂,基因突变筛查是明确其病因的最有效方法.(3)染色体异常亦可以引起外生殖器畸形表型.     

小儿尿道重复畸形

１９８０～１９９３年，收治重复尿道畸形１０例。男９例，女１例。尿道呈前后排列８例，左右排列２例。５例行重复尿道矫治术，４例就合并畸形或合并症行矫治术，１例未治疗。对重复尿道畸形的症状、诊断、分型、治疗等进行了讨论。     

瘘管内翻肠内结扎术治疗女童直肠生殖器瘘

目的 为提高女童直肠生殖器瘘的治疗效果。方法 回顾性总结瘘管内翻肠内结扎术的手术方法和治疗效果。结果 36例行瘘管内翻肠内结扎术患儿，术后全部愈合，其中3例于术后第4～6天缝合层裂开，创面经红外线照射及加强清洁护理后愈合，占8．3％。随访伤口愈合好，排便正常，无复发。结论 该术式分离范围小，操作简单，暴露良好。术后瘘口结扎缝合处无明显张力，愈后良好。     

肾小管性酸中毒骨病的误诊分析及其治疗

本文回顾性分析１１例肾小管性酸中毒骨病的误诊原因，提出筛查婴儿难治性佝偻病的和生。随防比较不同剂量碱剂对３例肾小管性酸中毒和身高的影响，表明大剂量碱剂治疗肾小管性酸中毒较小剂量为佳。     

小儿神经母细胞瘤误诊原因的探讨

神经母细胞瘤是小儿常见的恶性肿瘤,由于肿瘤发生部位隐匿,早期常无特殊症状,容易误诊。我院于1981年12月～1985年12月收治本病10例,其中误诊7例。本文重点讨论误诊原因,从中吸取教训,以提高诊断正确率。     

小儿先天性脐尿管疾病误诊分析

目的 总结脐尿管疾病的临床类型,探讨误诊原因.方法 回顾性分析2001年7月-2008年5月本院外科进行手术治疗的脐尿管疾病住院患儿22例临床资料.结果 按脐尿管闭锁不全情况进行分型,脐尿管瘘13例、脐尿管囊肿4例、脐尿管憩室3例、脐尿管窦2例.术前确诊17例,误诊5例,其中误诊为腹壁肿瘤2例,经手术探查证实为脐尿管囊肿;误诊为阑尾炎并急性腹膜炎3例,经手术探查确诊为脐尿管憩室并局部脓肿.22例均行手术治疗,19例术后恢复良好,3例术后切口感染且与腹膜外腹璧脓肿腔隙相通,经多次换药痊愈.结论 先天性脐尿管疾病腹壁肿块型及急性腹膜炎型易导致误诊.术前对诊断可疑患儿行B超、CT、膀胱镜及静脉尿路造影检查,可提高该病的诊断水平.实用儿科临床杂志,2009,24 (10):795-796     

婴幼儿类脓胸疾病的误诊原因分析

目的分析各种纵隔胸膜腔疾病误诊原因，总结经验教训。方法回顾性分析我院1990年6月～2003年6月因先天性肺囊肿、左胸腹裂孔疝、食管裂孔疝、纵隔肿瘤、双侧多囊肺、肺炎并胸膜肥厚误诊为急性脓胸的12例临床资料。结果11例确诊后行相应手术均痊愈出院；术后10例(占83％)随访8月～11年，恢复好。结论当纵隔胸膜腔疾病主要表现为脓胸或类脓胸样改变时，易误诊或延误治疗，甚或危及生命；对同影异病、同征异病情况须提高警惕。     

Genital injury in girls — accidental or not?

For 33 months a prospective study was made of girls attending a paediatric accident and emergency department with genital injury. The clinical features were related to age and the stated mechanism of the injury. Indicators for non-accidental injury were sought. A clear history was given in 82 of 87 girls to account for the findings on examination. Straddle injuries occurred in 74, accidental penetrating injuries in 5, stretch injuries in 3, and 2 had self-inflicted scratch injuries. Sexual abuse was alleged by 3 girls. Surgery was required in 6. Accidental injuries to the genital area are common and should have a clear history, with findings on examination consistent with that history. An absent or vague history or injury to the hymen, fourchette, or perineum must raise suspicions of child sexual abuse. Correspondence to: A. M. Pierce     

Genital mycoplasmas in preterm infants: Prevalence and clinical significance

The genital mycoplasmas:Ureaplasma urealyticum andMycoplasma hominis have recently assumed an increasing importance as neonatal pathogens. The aim of the present survey was to determine the prevalence of infections with these organisms in preterm infants in two neonatal intensive care units in Israel. Among 99 preterm infants, 24 (24%) harboured mycoplasmas in their throats shortly after birth.U. urealyticum was the most common organism.M. hominis was isolated only from 3 infants. Six out of 27 (22%) mechanically ventilated infants secretedU. urealyticum in their lower airways. The rate of colonization was inversely correlated with gestational age; 80% of infants younger than 28 weeks gestation were found to be colonized as opposed to 17.9% at 28–36 weeks of gestation. No mycoplasmas were isolated in blood cultures drawn from 146 infants and CSF cultures obtained from 47 preterm infants. Neonatal mortality, respiratory complications and intraventricular haemorrhage grade 3–4 were significantly increased in colonized infants. However, above gestational age of 27 weeks, colonization with mycoplasmas was not associated with a worse prognosis. We conclude that colonization withU. urealyticum is common in Israeli preterm infants, correlates inversely with gestational age and has no detrimental effect on neonatal morbidity and mortality of infants older than 27 wks of gestation.     

MadeLung畸形的诊断与治疗

目的 介绍MadeLung畸形的诊断和治疗方法。方法 详述1例MadeLung畸形的临床症状、体征、X线表现及治疗方法的选择。结果 患儿得到3年的随诊，经夜间夹板固定等保守治疗，腕部畸形无加重，无疼痛。结论 大多数病人以保守治疗为主，只有少数病人才需要手术治疗。     

Oestrogen Treatment of Tall Girls: Effect Decreases with Age

ABSTRACT. Fifty-nine tall girls were treated with oestrogen to reduce final height, starting at the ages of 9.1 to 16.2 years. We assessed the result of this treatment by comparison with matched controls. The epiphyseal bone age at the start of therapy, the final height, the Bayley-Pinneau (BP) and Roche-Wainer-Thissen (RWT) predictions of final height, and the errors in both predictions were evaluated. The matched pairs were divided into three groups according to bone age at the start of treatment; I < 10.5 ( n = 16), II 10.5–12.0 ( n = 22) and III > 12.0 years ( n =21). The mean (SD) intrapair reduction of height for these groups was 9.7 (4.0) cm, 4.3 (4.3) cm and 3.5 (3.2) cm, respectively, according to BP predictions and 6.3 (4.3) cm, 3.4 (3.0) cm and 1.2 (3.3) cm according to RWT predictions. No method of predicting height is accurate for tall girls and simultaneous predictions may differ greatly. Close agreement between the BP and RWT predictions does not indicate greater accuracy. The earlier therapy is started, the greater is the effect. Young girls need psychosocial support with therapy.     

Subglottic Ductal Cysts Associated with Complete Tracheal Ring Deformity: Coexistence of Two Rare Airway Abnormalities with Fatal Outcome

Subglottic cysts are rare and may cause airway obstruction. Most cases are acquired secondary to endotracheal intubation, even short-term, particularly in the premature neonate. Complete tracheal rings are rare anomalies associated with tracheal stenosis. To our knowledge, the two have not been reported coexisting. A 16-month-old ex-premature boy was found unresponsive, with his tracheostomy tube dislodged. Tracheomalacia, subglottic stenosis, and a laryngeal cyst had been diagnosed shortly after birth, and the cyst was surgically treated at that time. At autopsy, a complete tracheal ring was noted in the subglottic region, above the tracheostomy site, and the tracheal diameter was markedly decreased in this area. In addition, multiloculated cysts were present at that level, arising from both anterolateral tracheal walls. These completely occluded the airway. To our knowledge, this is the first case of a combination of tracheal ring anomaly and subglottic cysts. Pediatric pathologists must be aware of iatrogenic lesions associated with care of the premature neonate, particularly as the age of viability continues to decrease.     

NEUROCRISTOPATHY: Its Growth and Development in 20 Years

The neurocristopathies, originally defined in 1974 as a category of diseases arising in neural crest development are reviewed as to their current status. Accompanying the great advances in neural crest ontogeny, there has been an increase in the number and variety of neurocristopathies, particularly in the definition of craniofacial syndromes derived from the cranial crest mesectoderm. Molecular biology and genetics have added new dimensions in defining interrelationships between a number of entities. Environmental teratogens that cause neurocristopathies are also discussed. Neurocristopathy as a pathogenetic concept should continue to be useful as a structural framework for future investigations.     

Ilizarov技术治疗下肢畸形并发症的探讨

目的：探讨Ｉｌｉｚａｒｏｖ技术治疗下肢畸形出现的并发症及对策。方法：应用Ｉｌｉｚａｒｏｖ技术治疗下肢短缩１２例（１４个肢体），先天性胫骨假关节２例，骨髓炎骨缺损１例，矫治先天性马蹄内翻足９例。结果：２４例均达到预期畸形矫正目的。在股骨和胫骨畸形矫正中发生轴向偏移３５．２９％，针道感染２９．４１％，肌肉关节挛缩３５．２９％，延迟愈合５．８８％。并观察到带架下地活动时下肢外展，足呈外翻位致截骨处出现外翻应力是轴向偏移重要因素。延长超过４ｃｍ将出现肌肉关节挛缩，强力功能训练不能克服８～１０ｃｍ延长所致的挛缩。足畸形矫正中跖骨切割３３．３３％，跗间关节强直、针道感染分别高达５５．５６％和７７．７８％。结论：克氏针足够张力和改变引起下肢出现外翻应力的姿态以及对严重短肢畸形分次延长可减少轴向偏移和肌肉关节挛缩。Ｉｌｉｚａｒｏｖ技术不是治疗先天性马蹄内翻足首选方法。     

Neonatal herpes simplex: clinical findings and outcome in relation to type of maternal infection

In 39 mothers of children with neonatal herpes simplex virus infection, maternal infection was serologically characterized retrospectively and was related to maternal clinical symptoms and to the clinical findings and outcome in the child. Thirteen mothers had a primary infection (six type 1, seven type 2), mostly with clinical symptoms. The mean age of onset of the disease of the infants was 7 days and a disseminated disease was most commonly found. Most of the type 1-infected children recovered completely, whereas all but one of the type 2-infected children died. Twenty mothers had a recurrent (2 type 1, 18 type 2) and 4 an intermediate infection (primary type 2, prior infection with type 1), mostly asymptomatic. Their children had a localized disease (of the skin-eye-mouth or the central nervous system) with onset at a mean age of 14 or 13 days, respectively. The frequency of neurological sequelae was high. Two mothers had no serological signs of herpes infection.