Helvetica paediatrica acta最新文献

Greig cephalopolysyndactyly syndrome 格雷格头多并指综合征

Helvetica paediatrica acta Pub Date : 2020-02-10 DOI: 10.1007/978-1-4614-1037-9_111

引用次数: 2

The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia. 先天性肾上腺脂质增生症睾丸病变与性别分化。

Helvetica paediatrica acta Pub Date : 1989-06-01

T Ogata, N Matsuo, M Saito, A Prader

{"title":"The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia.","authors":"T Ogata, N Matsuo, M Saito, A Prader","doi":"","DOIUrl":"","url":null,"abstract":"Congenital lipoid adrenal hyperplasia results in deficient virilization of genetic male infants, indicating that gonadal testosterone biosynthesis is impaired in such patients. In order to better define the characteristics of the gonadal lesion, we studied a Japanese genetic male infant with congenital lipoid adrenal hyperplasia who underwent bilateral orchiectomy at 14 months of age. The basal serum testosterone was low before and after orchiectomy (6.6 +/- 1.1 vs. 9.5 +/- 1.3 ng/dl), though it was higher at 9 days of age (30 ng/dl). A stimulation test with human chorionic gonadotropin at 12 months of age yielded no testosterone response (7----less than 5 ng/dl). At the time of the surgical intervention, the external genitalia were completely female but Wolffian duct derivatives (epididymides and vasa deferentia) were well developed. The microscopic examination of the testes revealed an increased number of Leydig cells which were filled with abundant lipoid material.- The above data demonstrate that the fetus produced a sufficient amount of testicular testosterone for a male Wolffian duct development. This indicates a quantitative difference in androgen requirements for the male sexual development of the external genitalia and the Wolffian ducts.","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"43 5-6","pages":"531-8"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13644678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pulmonary hemosiderosis in a child with cystic fibrosis. 囊性纤维化儿童肺含铁血黄素沉着症。

Helvetica paediatrica acta Pub Date : 1989-06-01

E A Valletta, M Cipolli, G Cazzola, G Mastella

引用次数: 0

Food-borne botulism: an uncommon disorder. 食源性肉毒杆菌中毒:一种罕见的疾病。

Helvetica paediatrica acta Pub Date : 1989-06-01

C Bernasconi, D Nadal, J Wüst, U Lips, E Boltshauser

引用次数: 0

Platelet-associated IgG, IgM, and C3 in paediatric infectious disease. 血小板相关IgG、IgM和C3在儿科传染病中的作用

Helvetica paediatrica acta Pub Date : 1989-06-01

J Forster, Z Katzikadamos, P Zinn

{"title":"Platelet-associated IgG, IgM, and C3 in paediatric infectious disease.","authors":"J Forster, Z Katzikadamos, P Zinn","doi":"","DOIUrl":"","url":null,"abstract":"Elevated amounts of platelet-associated serum proteins (PASP) can be detected in idiopathic thrombocytopenic purpura (ITP) and are considered to be of patho-aetiological importance especially in the case of acute ITP, that commonly follows acute febrile illnesses. Using a micro-enzyme-linked immunoassay we examined PASP (IgG, IgM, and C3) in 120 paediatric patients with acute fever caused by viral (n = 45), bacterial (n = 48), or non-detectable agents (n = 27) and compared those values to the levels of PASP of an own paediatric control group (n = 21). Two of the patients presented mild temporary thrombocytopenia without clinical signs in the course of their infectious disease. While having normal platelet counts, the majority of our patients (69.2%) however, showed increased levels of PASP (IgG, IgM, C3; single or combined). Significant differences of PASP levels by discrimination of viral and bacterial diseases could not be demonstrated. Elevated platelet-associated complement was of special interest, because - in the absence of low platelet counts due to platelet-specific antibodies - it must be regarded as an indicator for immune complexes (IC) binding to thrombocyte surface IgG Fc-receptors. Thus we suggest that platelets play a considerable role in the elimination of circulating IC.","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"43 5-6","pages":"415-22"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13885700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Carbamyl phosphate synthase deficiency: clinical symptoms, diagnosis and dietary-medicamentous treatment in the neonatal period and infancy]. [氨甲酰磷酸合酶缺乏症:新生儿期和婴儿期的临床症状、诊断和饮食药物治疗]。

Helvetica paediatrica acta Pub Date : 1989-06-01

H Hochreutener, J Issakainen, C Bachmann, K Baerlocher

{"title":"[Carbamyl phosphate synthase deficiency: clinical symptoms, diagnosis and dietary-medicamentous treatment in the neonatal period and infancy].","authors":"H Hochreutener, J Issakainen, C Bachmann, K Baerlocher","doi":"","DOIUrl":"","url":null,"abstract":"Carbamyl phosphate synthetase (CPS) catalyses the synthesis of carbamyl-phosphate from ammonia and bicarbonate and is the first step in ureagenesis. The infant described in this report suffered from deficiency of this enzyme. The symptoms started on the 2nd day of life with tachycardia, apathy, irritability and metabolic alcalosis, on the 4th day coma and fits occurred due to hyperammonia (ammonia in the blood max 496 mumol/l, normally up to 150 in newborns). In hepatic tissue no activity of carbamyl phosphate synthetase could be measured (normal range 0.66-2.1 mumol/h/mg protein). Peritoneal dialysis was instituted, but the metabolic crisis could only be overcome by the following therapeutic measures: restriction of protein intake to 1.5 g/kg/d in part as a special aminoacid mixture, in part as breast milk; sufficient caloric supply (600-500 kJ/kg/d); sodium benzoate 350 mg/kg/d: arginine 2 mmol/kg/d respectively citrulline 350 mg/kg/d, and carnitine 150 mg/kg/d. By these procedures the exogenous and endogenous load of ammonia could be minimized. Electroencephalogram and mental development were normal. Acute metabolic crises with hyperammonia during catabolic states (infections) could be treated several times. At the age of 8 months, however, the patient died during such a crisis. This case shows that it is possible to achieve a normal psychomotor development in complete CPS-deficiency by adequate therapy. Catabolic states are difficult to manage.","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"43 5-6","pages":"493-505"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13885620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The popliteal pterygium syndrome: distinct phenotypic variation in two families. 腘窝翼状胬肉综合征:两个家族明显的表型变异。

Helvetica paediatrica acta Pub Date : 1989-06-01

J Hammer, M Kläusler, A Schinzel

引用次数: 0

Ambulatory blood pressure recording in children and adolescents with a semi-automatic recording device. 用半自动记录装置记录儿童和青少年动态血压。

Helvetica paediatrica acta Pub Date : 1989-06-01

M Eicke, E P Leumann

{"title":"Ambulatory blood pressure recording in children and adolescents with a semi-automatic recording device.","authors":"M Eicke, E P Leumann","doi":"","DOIUrl":"","url":null,"abstract":"The blood pressures of 169 hospitalized children and adolescents were determined by a semi-automatic recording device (Sysditon). Several technical modifications of the paediatric cuffs were required before the device yielded satisfactory results. The systolic pressures then agreed very well with conventional sphygmomanometry, whereas the diastolic pressures were underestimated by 2.6 to 5.9 mm Hg and showed considerable scattering. In the second part of the study, 28 children and adolescents performed home recordings during one week. These measurements were compared with the hospital recordings obtained before and after the home recordings. The mean of all systolic self measurements was lower by 3.4 mm Hg than the initial hospital recordings, whilst the final hospital recordings were almost identical. In the majority of children, the lowest home recordings were noted in the morning and at noon, and the highest values in the afternoon and evening. Self measurement with a semi-automatic device is a simple and inexpensive method to evaluate elevated blood pressure and to control anti-hypertensive therapy of children and adolescents. However, technical modifications of the cuffs are necessary, and the devices need careful evaluation before being used in children.","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"43 5-6","pages":"433-41"},"PeriodicalIF":0.0,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13885704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Herlitz syndrome and "pyloric atresia"]. [Herlitz综合征和幽门闭锁]。

Helvetica paediatrica acta Pub Date : 1989-06-01

H Müller, H Bode, C Krone, I Anton-Lamprecht, M Orlowska

引用次数: 0

Familial multiple naevi flammei. 家族多重naevi flammei。

Helvetica paediatrica acta Pub Date : 1989-06-01

M Schmid, E Boltshauser

引用次数: 0