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Glycogénose type IX par déficit en phosphorylase b-kinase et atteinte cardiaque, hépatique et musculaire 由磷酸酶b-激酶缺乏和心脏、肝脏和肌肉损伤引起的IX型糖原病
Pub Date : 1997-06-01 DOI: 10.1016/S0929-693X(97)87603-8
A. Aboussad, N. Sekarski, J. Cotting, R. Laurini, J. Matthieu, Richard Gitzelmann, N. U. Bosshard, Beat Steinmann, A. Corboz, M. Payot
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引用次数: 0
La sténose hypertrophique du pylore chez le nourrisson 婴儿肥厚性幽门螺杆菌狭窄
Pub Date : 1994-01-01 DOI: 10.1001/jama.1934.02750270066029
F. Becmeur, S. Gebran, D. Christmann, I. Hofmann-Zango, P. Sauvage
Cent soixante-quinze enfants ont ete traites chirurgicalement pour stenose hypertrophique du pylore dans le service de Chirurgie infantile entre 1983 et 1993, parmi lesquels 81% de garcons et 19% de filles. L'âge au debut des vomissements se situait a 3,9 semaines en moyenne. On notait a l'admission, soit une stagnation ponderale, soit une cassure franche de la courbe de poids. Sept malformations associees ont pu etre observees (une dysplasie multikystique renale, une uretrohydronephrose polaire superieure gauche avec ureterocele, deux fois une atresie de l'oesophage type III, un antecedent de pneumothorax spontane, une hernie diaphragmatique gauche, une mucoviscidose). Treize enfants ont un antecedent familial de stenose hypertrophique du pylore
1983年至1993年期间,175名儿童在儿童外科接受了肥厚性幽门螺杆菌狭窄的手术治疗,其中81%为男孩,19%为女孩。开始呕吐的平均年龄为3.9周。在入学时,要么是体重停滞不前,要么是体重曲线明显断裂。7例相关畸形(肾多囊性发育不良、左上极输尿管肾盂肾病伴输尿管膨出、2例III型食道闭锁、既往自发性气胸、左横膈膜疝、囊性纤维化)。13名儿童有肥厚性幽门螺杆菌狭窄家族史
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引用次数: 12
[Retroperitoneal teratomas in the perinatal period. Review of the literature concerning a neonatal, immature, aggressive teratoma]. 围生期腹膜后畸胎瘤。有关新生儿未成熟侵袭性畸胎瘤的文献综述。
Pub Date : 1993-12-01
B Augé, D Satgé, P Sauvage, P Lutz, M P Chenard, J M Levy

A neonate with an immature, poorly demarcated retroperitoneal teratoma invading the aorta-vena cava space died immediately after surgery. Among 34 cases of retroperitoneal teratoma discovered during the first postnatal month, including one renal case and ours, eight can be considered malignant on the basis of histology in two cases and clinical course in six. Five of these tumors exhibited a significant immature component. In neonates, the proportion of malignant teratomas is greater for retroperitoneal tumors than for other sites: sacrum and coccyx, heart, neck, mediastinum, and abdomen. Evaluation of chemotherapy in teratomas with significant immature components is difficult because few of the patients of this small sample received such treatment. As in other sites, regardless of the degree of maturity, exeresis must be as complete as possible.

新生儿未成熟,界限不清的腹膜后畸胎瘤侵入主动脉-腔静脉间隙后立即死亡。在出生后1个月发现的34例腹膜后畸胎瘤中,包括1例肾脏病例和我们的病例,其中2例根据组织学诊断为恶性,8例根据临床病程诊断为恶性。其中5个肿瘤表现出明显的未成熟成分。在新生儿中,腹膜后肿瘤的恶性畸胎瘤比例高于其他部位:骶骨和尾骨、心脏、颈部、纵隔和腹部。评估具有明显未成熟成分的畸胎瘤的化疗是困难的,因为这个小样本中很少有患者接受了这种治疗。和其他地方一样,不管成熟度如何,锻炼都必须尽可能的完整。
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引用次数: 0
[Natal and neonatal teeth. Management]. 出生和新生儿牙齿。管理)。
Pub Date : 1993-12-01
J R Jasmin, N Jonesco-Benaiche, M Muller-Giamarchi

Natal teeth are present at birth, whereas neonatal teeth erupt during the first postnatal month. Mobile natal or neonatal teeth should be removed to prevent aspiration.

出生时就有牙,而新生儿牙在出生后的第一个月就长出来了。应拔除可活动的出生或新生儿牙齿,以防止误吸。
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引用次数: 0
[Risks of failure of uncontrolled adoption of foreign children]. [不受控制的外国儿童收养失败的风险]。
Pub Date : 1993-12-01
J J Choulot, J M Brodier

Four cases of failed adoptions of children from abroad are reported. Risk factors included advanced age of the adopting parents or adoptee and insufficient commitment on the part of the adopting parents who organized the adoption on their own without undergoing counselling. Prevention of adoption failures would require counselling by competent professionals and support groups (e.g., adopting parent groups, competent physicians) and mandatory review of adoption requests by an appropriate commission.

据报道,从国外收养儿童失败的案例有四起。危险因素包括收养父母或被收养人年龄较大,以及收养父母在没有接受咨询的情况下自行组织收养的承诺不足。预防收养失败需要有能力的专业人员和支助团体(例如,收养父母团体、有能力的医生)提供咨询,并需要由适当的委员会对收养请求进行强制性审查。
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引用次数: 0
[Hepatic hydatidosis and portal hypertension in children. Is it the Budd-Chiari syndrome?]. 儿童肝包虫病和门静脉高压症。是Budd-Chiari综合症吗?
Pub Date : 1993-12-01
F Khaldi, N Braham, F Ben Chehida, N Ben Jaballah, B Bennaceur

A case of portal hypertension in a five-year-old with multiple hydatid cysts in the liver is reported. Compression of the portal vein was the likely mechanism. Abdominal ultrasonography disclosed four hydatid cysts of which the largest was located in segments VII and VIII and caused compression of the supra-hepatic veins and inferior vena cava. Doppler ultrasonography showed continuous venous flow without triphasic modulation in the middle suprahepatic vein and inferior vena cava. Abdominal computed tomography demonstrated compression of the inferior vena cava and failed to visualize the suprahepatic veins. Upon surgery, evidence of hepatic venous statis was found. The child died 24 hours post-surgery. Budd-Chiari syndrome should be looked for routinely in patients with hydatid disease of the liver.

我们报告了一例五岁儿童门静脉高压症并发肝脏多个包虫病的病例。门静脉受压是可能的机制。腹部超声检查发现4个包虫囊肿,其中最大的位于第VII节段和第VIII节段,造成肝上静脉和下腔静脉压迫。多普勒超声显示肝上静脉和下腔静脉连续流动,无三相调节。腹部计算机断层扫描显示下腔静脉受压,但未能看到肝上静脉。手术后,发现肝静脉停滞的证据。这名儿童在手术后24小时死亡。肝包虫病患者应常规检查布-恰利综合征。
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引用次数: 0
[Diffuse neonatal hemangiomatosis. A case with tetralogy of Fallot]. 弥漫性新生儿血管瘤病。法洛四联症1例。
Pub Date : 1993-12-01
F Hamdi, J F Cuny, F Truchetet, A Lambert, C Marchal

In neonatal disseminated hemangiomatosis, multiple immature capillary hemangiomas are widely distributed in the skin, mucous membranes, and internal organs including the liver, lungs, and larynx. In patients with life-threatening visceral involvement, corticosteroids or interferon may be required. A case in a female infant with tetralogy of Fallot is reported.

在新生儿弥散性血管瘤病中,多发未成熟毛细血管瘤广泛分布于皮肤、粘膜和内脏器官,包括肝、肺、喉。对于危及生命的内脏受累患者,可能需要皮质类固醇或干扰素。本文报告1例女婴法洛四联症。
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引用次数: 0
[Prevention of hip luxation in children disabled with cerebral palsy]. [脑瘫残疾儿童髋关节脱位的预防]。
Pub Date : 1993-12-01
A Grenier
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引用次数: 0
[Retrospective study of 45 cases of congenital syphilis in French Guiana from 1980 to 1990]. [1980 ~ 1990年法属圭亚那45例先天性梅毒的回顾性分析]。
Pub Date : 1993-12-01
H Bataille, E C Mallet, Z Tlilane, C Beets, G Carles, P Delattre

From 1980 through 1990, 45 cases of congenital syphilis, i.e., 15.5/10,000 births, were reported in French Guyana. Epidemiological and clinical characteristics of these cases were analyzed retrospectively. Most mothers were immigrants (32%) or members of the traditional Maroni community (60%). Congenital infections were often severe (symptomatic in 85% of cases and fatal in 33%). Treatment should be especially aggressive in patients infected with the human immunodeficiency virus.

从1980年到1990年,法属圭亚那报告了45例先天性梅毒,即15.5/10 000名新生儿。回顾性分析这些病例的流行病学和临床特点。大多数母亲是移民(32%)或传统马罗尼社区成员(60%)。先天性感染通常很严重(85%的病例有症状,33%的病例死亡)。对于感染人类免疫缺陷病毒的患者,治疗应特别积极。
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引用次数: 0
[Neonatal testicular ischemic necrosis without torsion, associated with antithrombin III deficit]. [新生儿睾丸缺血性坏死无扭转,与抗凝血酶III缺陷相关]。
Pub Date : 1993-12-01
A Nouri, M Belghith, M Mekki, A Gargouri, A Rekik, R Castelli

There have been few reports of neonatal ischemic necrosis of the testis without torsion of the spermatic cord, which may be caused either by compression in utero or by transient torsion of the spermatic cord resolving spontaneously before surgery. The patient reported herein developed an inflammatory swelling of the right scrotum and an ecchymotic plaque over the left thigh at four days of age. Ischemic necrosis of the right testis without torsion was found upon surgery. When the patient was ten days of age, he developed an inflammatory swelling in the left scrotum; ischemic necrosis of the left testis without torsion was again found upon surgery. Thrombosis of the spermatic vessels was suspected. Postoperatively, ecchymotic and necrotic skin lesions developed, followed by pulmonary embolism and cerebral thrombosis. Outcome was fatal. Hematologic tests in the neonate and his parents established the diagnosis of inherited antithrombin III deficiency. Ischemic necrosis of the testes was thus probably due to hypercoagulability. No similar cases have been reported to date.

没有精索扭转的新生儿睾丸缺血性坏死的报道很少,这可能是由于子宫内的压迫或精索的短暂扭转在手术前自发消退引起的。在此报告的患者在4天大时出现右阴囊炎症性肿胀和左大腿淤血斑块。手术发现右睾丸缺血性坏死,无扭转。患者10天大时,左阴囊出现炎性肿胀;手术后再次发现左睾丸缺血性坏死,无扭转。怀疑有精管血栓形成。术后出现皮肤淤血和坏死,随后出现肺栓塞和脑血栓。结果是致命的。新生儿及其父母的血液学检查确定了遗传性抗凝血酶III缺乏症的诊断。因此,睾丸的缺血性坏死可能是由于高凝所致。迄今未报告类似病例。
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引用次数: 0
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Annales de pediatrie
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