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991.
Neural arch dysplasia of the cervical 4 vertebrae is a rare occurrence. The authors present a case with dysplasia of cervical bodies and posterior arch elements at multiple levels. The embryogenesis of these anomalies is discussed. 相似文献
992.
L. SANN L. DAVID A. FREDERICH M. BOVIER-LAPIERRE J. BOURGEOIS M. ROMAND-MONIER M. BETHENOD 《Acta paediatrica (Oslo, Norway : 1992)》1977,66(3):323-327
Abstract. A case of congenital rickets of nutritional origin is described in a light-for-date premature infant (gestational age 34 weeks, birthweight 1100 g). X-rays of the long bones showed spread, frayed and cupped metaphyses at birth and at the age of 16 days. Serum calcium was 8.2 mg/100 ml, phosphorus 3.4 mg/100 ml and alkaline phosphatase (A.P.): 323 IU/ml (N≤200) at the age of 3 days. Very high level of serum immunoreactive parathyroid hormone (iPTH) was found at the age of 16 days=295 μlEq/ml (N≤50). Evidence of maternal vitamin D deficiency was demonstrated by low plasma 25-hydroxycholecalciferol (25-OH-CC): 1.0 ng/ml (N: 13.2±4.2) soon after delivery; it was found to be normal (10.2 ng/ml) six months later. Ca infusion (15 mg/kg/3 h) resulted in a marked fall of serum iPTH (280 to 84 μlEq/ml). Administration of vitamin D2 (2400 IU/day for 10 days) induced some healing of the metaphyses; A. P. remained elevated (400 IU/ml); plasma 25-OH-CC was normal 10.2 ng/ml and serum iPTH was 115 μlEq/ml. When 25-OH-CC was given orally for ten days (15 μg/day), plasma 25-OH-CC rose to 64.5 ng/ml with a minor change of serum iPTH (94 μlEq/ml); X-rays of the bones showed osteoporosis. These results suggest a reduced conversion of 25-OH-CC into 1–25-(OH)2 -CC. 相似文献
993.
Keiya Tada Goro Takada Kiyoshi Omura Yoshinori Itokawa 《European journal of pediatrics》1978,127(2):141-147
Two children are described who suffered from episodes of metabolic acidosis and progressive mental and motor deterioration. The patients showed periodic elevation of blood lactate, pyruvate and alanine, which was accompanied by vomiting, hypotonia or convulsions. The concentrations of lactate and pyruvate in cerebrospinal fluid were found to be increased. Liver biopsies revealed a decrease in pyruvate carboxylase activity and normal pyruvate decarboxylase activity. No inhibitor of TPP-ATP phosphoryl transferase was detected in urine from the patients.These findings suggest that congenital lactic acidosis due to pyruvate carboxylase deficiency is probably a different disease entity from Leigh's encephalomyelopathy. A possible mechanism of brain damage caused by a defect in pyruvate carboxylase is postulated.Supported by Grant from the Ministry of Education and the Ministry of Public Welfare, Japan 相似文献
994.
Kodama Soichi Kasuga Masato Seki Atsushi Ninomiya Michindo Sakurai Takashi Morishita Yorihiko Matsuo Masafumi Matsuo Tamotsu 《European journal of pediatrics》1978,127(2):111-119
Hyperglycemia, glucose intolerance, hyperinsulinemia and resistance to exogenous insulin were found in a 10-year-old Japanese boy diagnosed as having congenital generalized lipodystrophy.Studies on insulin receptors of circulating mononuclear leucocytes indicated that insulin-resistant diabetes combined with congenital generalized lipodystrophy may be due to disturbance of insulin binding to membrane receptors. No insulin-binding antibody or antibody that impairs insulin-receptor binding was found.Plasma glucagon showed an exaggerated response to L-arginine before treatment. After treatment with a controlled diet and an oral sulfonylurea (500 mg/day) for 4 weeks, there was improvement in the plasma glucagon response to L-arginine. Improvement in the hyperglycemia, hyperinsulinemia and acanthosis nigricans was also observed.On the other hand, on completion of a 7-day high-fat diet, a marked increase in serum free fatty acids, triglycerides and -lipoproteins was observed. The total plasma post-heparin lipolytic activity during the high fat diet was within the normal range. However, the level of protamine-inactivated activity was 3 times that of the control. 相似文献
995.
ANNELI KLEMETTI 《Acta paediatrica (Oslo, Norway : 1992)》1978,67(5):601-605
ABSTRACT. A geographically limited cohort of Finnish children was followed from birth for seven years, and all congenital abnormalities were recorded and classified and special attention was given to the cumulative detection rate, and the time of detection of various defects. Of 3674 pregnancies 135 babies with or without defects were stillborn or died during the neonatal period. The remaining 3539 were followed up to seven years, when the percentage follow-up was 81.7%. Detailed information on 76 malformed livebirths registered in the neonatal period was available in 63 cases (82.9%). The diagnosis was found to be incorrect in 6 cases and additional defects were registered in 7 of these children. Additional congenital abnormalities detected in the follow-up study were divided into three groups: all congenital disorders or abnormalities with prenatal etiology (248 children), all congenital defects (111 of these 248) and structural malformations (31 of these 111). The cumulative detection rates in these groups increased with time and at the end of the study when the children were aged seven were 9.4%, 5.6% and 2.6%, respectively. 相似文献
996.
Radiological findings of segmental renal hypoplasia are reported, based on the observation of 6 children aged between 8 and 14. The leading clinical symptom is arterial hypertension. Urinary tract infection and proteinuria are additional common findings. Cases with bilateral disease often have renal failure. The intravenous urogram shows unilateral or bilateral small kidneys with segmental renal scarring and transverse lobulation. In the pathological areas the calyces are ectatic or clubbed and their infundibulum is elongated. Vesico-ureteral reflux is frequent. In angiography the lobulated segments appear hypovascular. Diagnosis was verified by histological examination.Presented at the twelfth Annual Meeting of the European Society of Pediatric Radiology, Madrid, Spain, April 24–26 1975 相似文献
997.
NIS FREDENSBORG 《Acta paediatrica (Oslo, Norway : 1992)》1976,65(3):323-328
Abstract. The effects of early diagnostic measures of congenital dislocation of the hip (CDH) in Malmo during the years 1956-1972 were investigated. Of 58759 newborns 548 were diagnosed as having CDH. Only 4 cases were missed at the initial examination. Thus, all, or almost all, children with CDH can be diagnosed at birth provided that the initial examination is undertaken within 24 or 48 hours. 相似文献
998.
A normally developed 6 year old boy with congenital complete heart block presented with right hemiparesis of one month duration. The ventricular pacemaker which was implanted at two months of age had not been functioning for four years and was not replaced because there was no history of syncope, dizziness, or decreasing exercise tolerance even though the ventricular rate was 54 beats per minute. Computerized tomography revealed an infarct in the left internal capsule. Stokes-Adams attacks have been reported as a complication in children with congenital heart block but cerebrovascular accidents as in this patient are unusual (1, 5, 6, 9). 相似文献
999.
先天性巨结肠31例的诊治体会 总被引:3,自引:1,他引:2
目的探讨新生儿先天性巨结肠的诊断、合理的治疗方案,以提高治愈率。方法对31例先天性巨结肠的患儿进行回顾性分析,本组有近半数在新生期误诊为胎粪堵塞综合征或其它疾病。结果13例采用保守治疗,仅暂时缓解症状;5例行Swenson术,2例复发,1例并发肠扭转,1例吻合口出血并发小肠结肠炎;3例行Rehbein术,1例复发,1例并发小肠结肠炎;12例行Duhamel术,仅1例出现不全性肠梗阻,余随访1~2年。结论传统的保守治疗仅作为术前准备阶段或暂时缓解症状,Duhamel术与其它术式比较创伤小,操作简便,并发症少。 相似文献
1000.
本文报道6例先天性单纯性阴茎弯曲的误诊和误治,在讨论该病的病因和病理学特点的基础上,总结发生原因,针对其尿道皮肤瘘等并发症,提出了进一步行尿道松解、瘢痕切除、瘘口修补或尿道成形等处理措施。 相似文献