聚合酶链反应-单链构象多态性和限制性酶切分析法对脊髓性肌萎缩症的基因诊断

目的 对脊髓性肌萎缩症（SMA）的早期诊断提供基因学特征和可靠的辅助检测手段。方法 用PCR-单链构象多态性(SSCP)和PCR-限制性酶切分析法对首都儿科研究所附属儿童医院神经科门诊的30个SMA家系和50名入托查体正常儿童运动神经元存活基因(SMN)的第7和8外显子进行缺失检测。结果 SMN基因外显子7和8缺失检测结果：在30例SMA患儿中，22例（73.3%，22/30）同时缺失SMN1基因外显子7和外显子8，4例（13.3%，4/30）显示单纯SMN1基因外显子7纯合缺失，4例（13.3%，4/30）SMN1基因外显子7或8均未见缺失，未见单纯SMN1基因外显子8纯合缺失。1例SMAⅠ型患儿父亲为SMN1基因外显子7和8的纯合缺失。1名正常儿童有SMN2基因外显子7和8的纯合缺失。经过PCR 限制性酶切法检测不伴有缺失的2例SMA Ⅲ型患儿及其家系SMN1基因外显子8 SSCP电泳图中出现了异常条带。结论 PCR-限制性酶切和PCR-SSCP分析法对SMN1基因外显子7和8缺失进行检测是诊断SMA的有效辅助手段,两者联合应用可以相互验证、互为补充；SMN1基因外显子7或8的缺失检测对SMA进行基因诊断是一种简便、特异的诊断方法，并且由于其为一种无创性检查，易被家长接受，是SMA临床症状前诊断、鉴别诊断和临床确诊的重要辅助手段。     

Management of tracheomalacia by aortopexy

Over a 6.5-year period, 25 infants and children with symptomatic tracheomalacia underwent aortopexy. Seventeen of the patients had immediate and dramatic relief of symptoms and 5 others were greatly improved. The operation failed in 1 patient who required two subsequent procedures. Early recourse to aortopexy is recommended when symptoms of tracheomalacia become evident. Offprint requests to: E. M. Kiely     

Reactivation of sunburn by methotrexate

For B-All, we treated a five-year-old boy with a combination chemotherapy course including intermediate-dose methotrexate (MTX) with citrovorum factor rescue (CF) two days after a mild sunburn. The insolation inflammation vanished completely, but was reactivated after three days much more severely than the original sunburn, and healed slowly over three weeks. The reactivation phenomenon has previously been described in man and in the guinea pig. It differs substantially from "radiation recall" caused by other cytostatic drugs, as sunburn is not enhanced by MTX applied simultaneously with insolation and is not reactivated if MTX is given more than a week later. Previously irradiated skin regions are spared from the reactivation. Although the phenomenon is not prevented by CF, it can probably be understood as enhanced MTX toxicity to the hyperproliferating basal cell layer of skin after insolation damage. MTX should therefore not be applied for one week after sunburn.     

Underdosing of acetaminophen by parents

The parents of 96 young children seen in an inner-city walk-in clinic for perceived or measured "fever" were asked about their management of the symptom. Eighty-eight (92%) administered acetaminophen, and of these, 67% gave less than the usual recommended dose of 10 to 15 mg/kg per dose. Underdosing was most commonly noted in the younger, lighter patient population. Of the parents who gave an acetaminophen elixer preparation (160 mg/5 mL), 26% measured the dose with the 0.8-mL dropper intended for use with the infant drops preparation (80 mg/0.8 mL), resulting in significant underdosing of acetaminophen (2.3 +/- 1.3 mg/kg per dose). Health care professionals should specifically inquire about the details of acetaminophen administration when discussing antipyresis with parents.     

Munchausen syndrome by proxy abuse perpetrated by men

Fifteen families are described in which one or more child incurred factitious illness abuse as a result of the father's false story and actions. The degree of direct physical harm, and the chance of death, was high in those families in which the father had Munchausen syndrome or marked somatising disorder. Eleven children died and another six survived repetitive smothering or poisoning. Although the extent of the risk to children living with a parent who has marked somatising disorder is unsure, there must be vigilance on behalf of those children.     

Munchausen syndrome by proxy abuse perpetrated by men

The frequency of chromosomal aberrations in peripheral blood lymphocytes was assessed in three groups of children: untreated coeliac disease (n = 20); non-coeliac disease enteropathies (n = 15); controls (n = 15). The mean frequency of aberrant cells and the total number of aberrations per 100 metaphases was increased in the coeliac disease group compared with controls by factors of 5 and 6, respectively (p < 0.01 for both). Aberrant cells and total aberrations were similarly increased in the non-coeliac disease enteropathy group by a factor of 3.7 in each case (p < 0.05). However, the frequency of aberrations in the two enteropathy groups was not significantly different. Children with coeliac disease, similar to affected adults, have evidence of increased chromosomal instability. However, similarly increased chromosomal aberrations are seen in children with non-coeliac disease enteropathies, indicating that the abnormality is not specific for coeliac disease.

     

Munchausen syndrome by proxy caused by ipecac poisoning

OBJECTIVE: To present a case of Munchausen syndrome by proxy caused by ipecac poisoning to increase the awareness of their warning signs and symptoms so that they may be recognized and diagnosed earlier. CASE: Report of one case of a child who was determined to be a victim of Munchausen syndrome by proxy by ipecac poisoning who was hospitalized multiple times over a 4-year period at 2 different hospitals before an accurate diagnosis was made.     

腹腔镜及开腹手术治疗小儿卵巢囊肿疗效比较

目的 对比观察腹腔镜及开腹手术治疗小儿卵巢囊肿疗效。方法 对比1998年1月至2001年12月39例小儿卵巢囊肿手术治疗效果及预后，其中21例行传统手术治疗，18例行腹腔镜手术。结果 行传统开腹手术的病人平均住院日为7．40—1．05d，其中2例(0．91％)因粘连性肠梗阻二次手术治疗，1例(0．49％)并发术后切口感染，行腹腔镜治疗的病人平均住院日为4．10—0．98d，随诊半年尚未发现并发症。结论 行腹腔镜卵巢囊肿切除术治疗效果优于传统术式。