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[X-linked dominant chondrodysplasia punctata (author's transl)]. [x连锁显性点状软骨发育不良(作者译)]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-04-01
R Happle
{"title":"[X-linked dominant chondrodysplasia punctata (author's transl)].","authors":"R Happle","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Chondrodysplasia punctata displays genetic heterogeneity. The differentiation between the rhizomelic type and the Conradi-Hünermann type is well known. In 1977, an X-linked dominant form was described as a third type. The syndrome of X-linked dominant chondrodysplasia punctata includes skeletal, ocular and cutaneous anomalies with asymmetric involvement of the body. The cutaneous signs and symptoms are characteristic: congenital ichthyosiform erythroderma with linear and patchy hyperkeratoses; ichthyosis in the older child; linear and blotchy atrophoderma mainly involving the hair follicles; circumscribed alopecia; coarse, lusterless and irregularly twisted hair; sparse eyebrows and lashes that grow in various directions; flattened nail plates and onychoschizia. A further case of X-linked dominant chondrodysplasia punctata is reported. The ratio of females to males is so far 40:0. Apparently, the underlying gene defect is lethal in male embryos. The linear and patchy pattern of skin lesions reflects functional X-chromosome mosaicism.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 4","pages":"203-7"},"PeriodicalIF":0.0,"publicationDate":"1980-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18378447","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
[Studies of metabolism of overweight children before and during weight reducing diet applied some weeks (author's transl)]. [超重儿童在减肥前和减肥期间的代谢研究[作者译]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-04-01
A M Mingers, J Ströder, H Pfüller
{"title":"[Studies of metabolism of overweight children before and during weight reducing diet applied some weeks (author's transl)].","authors":"A M Mingers,&nbsp;J Ströder,&nbsp;H Pfüller","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>32 overweight and otherwise healthy children aged 8--15 years received a hypocaloric assorted diet for some weeks. Their weight loss was satisfactory, and as expected most considerable in the beginning. Before and during dieting a great number of investigations were carried out concerning the changes of metabolism and blood counts. This was done in weekly intervals. By means of the resulting parameters the changes of metabolism during dieting are discussed.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 4","pages":"170-6"},"PeriodicalIF":0.0,"publicationDate":"1980-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18379845","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
[Diagnostic problems in alpha 1-antitrypsin deficiency (author's transl)]. [α 1-抗胰蛋白酶缺乏症的诊断问题(作者译)]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-04-01
W Menzel, H Moll
{"title":"[Diagnostic problems in alpha 1-antitrypsin deficiency (author's transl)].","authors":"W Menzel,&nbsp;H Moll","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Diagnostic problems in alpha 1-antitrypsin deficiency are shown by a case report about a seven weeks old infant. The typical morphological changes in a liver biopsy were suspicious for alpha 1-antitrypsindeficiency. This diagnosis was eventually established by repetition of serum electrophoresis and quantitative dterminations. In addition to prognosis, problems of therapy, prophylaxis, early diagnosis and counselling of affected families are discussed.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 4","pages":"212-3"},"PeriodicalIF":0.0,"publicationDate":"1980-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18015435","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 tricho-rhino-phalangeal syndrom. Four cases in 3 generations (author's transl)]. 毛鼻指骨综合征。3代4例(作者译)]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-04-01
M B Ranke, H C Heitkamp
{"title":"[The tricho-rhino-phalangeal syndrom. Four cases in 3 generations (author's transl)].","authors":"M B Ranke,&nbsp;H C Heitkamp","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The tricho-rhino-phalangeal syndrome is a rare anomaly characterized by typical cranio-facial dysmorphic signs and anomalies of hair and phalanges. Frequently associated are Perthes-like hip changes, low birth weight and short stature. Autosomal-dominant inheritance is prevalent.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 4","pages":"208-11"},"PeriodicalIF":0.0,"publicationDate":"1980-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18378448","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
[Ketamine anesthesia for outpatient procedures in children (author's transl)]. [氯胺酮麻醉在儿童门诊手术中的应用[作者简介]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-04-01
E C Urban, I D Mutz, W Muntean, G Fritsch
{"title":"[Ketamine anesthesia for outpatient procedures in children (author's transl)].","authors":"E C Urban,&nbsp;I D Mutz,&nbsp;W Muntean,&nbsp;G Fritsch","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Ketamine anesthesia was used in children to perform 200 outpatient procedures (mainly spinal taps, bone marrow aspirations and biopsies). Atropine was administered in advance and a ketamine dose of 1.8--2.0 mg/kg i.v. was sufficient in most instances. The general anesthesia allows calm and accurate performance of the necessary procedures. Ketamine can be used repeatedly and was preferred by the majority of children for subsequent procedures. The application of Diazepam (2 mg i.v. or 5 mg rectally) reduced unpleasant wake-up dreams in older children. The children were under close observation until consciousness was regained. They left the outpatient clinic attended by their parents approximately one hour after the procedure.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 4","pages":"177-9"},"PeriodicalIF":0.0,"publicationDate":"1980-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18379846","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
[Energy and nutrient supply during childhood. VI. Calcium, phosphorus, magnesium (author's transl)]. [儿童时期的能量和营养供应。六、钙、磷、镁(作者译)。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-03-01
H Stolley, M Kersting, W Droese
{"title":"[Energy and nutrient supply during childhood. VI. Calcium, phosphorus, magnesium (author's transl)].","authors":"H Stolley,&nbsp;M Kersting,&nbsp;W Droese","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 3","pages":"141-6"},"PeriodicalIF":0.0,"publicationDate":"1980-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"17942885","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
[Coeliac disease: clinical and pathogenic aspects (author's transl)]. 【乳糜泻:临床与致病方面(作者简介)】。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-03-01
R Grüttner, M Stern
{"title":"[Coeliac disease: clinical and pathogenic aspects (author's transl)].","authors":"R Grüttner,&nbsp;M Stern","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Coeliac disease is a permanent food intolerance with a genetic basis which persists throughout the whole life. Ingestion of gluten proteins (wheat, rye, barley, oats) causes atrophy of the jejunal villi and, as a consequence, malabsorption. Diagnosis can only be proved by three consecutive intestinal biopsies; initially on normal diet, after 12--18 months of gluten-free diet, and after a final challenge with gluten-containing food. Biochemical changes have been discussed for a long time to be of primary importance in the pathogenesis of coeliac disease. Recently, however, evidence is increasing that immunological mechanisms are primary factors in the development of the disease. A synopsis of biochemical and immunological phenomena and of membrane receptor alterations of enterocytes and immunocytes which are genetically based is more likely to answer the question of pathogenesis than any single theory. Therapeutically, life-long gluten-free diet is necessary. In some cases, after a long course the prognosis is limited by the increased incidence of malignancy.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 3","pages":"109-17"},"PeriodicalIF":0.0,"publicationDate":"1980-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18037555","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
[Metatropic dysplasia. A rare skeletal anomaly (author's transl)]. [Metatropic发育不良。一种罕见的骨骼异常[作者译]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-03-01
R Miething, B Stöver, H Noeske
{"title":"[Metatropic dysplasia. A rare skeletal anomaly (author's transl)].","authors":"R Miething,&nbsp;B Stöver,&nbsp;H Noeske","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Metatropic dwarfism is a rare form of bone dysplasia which is manifest already at birth. One feature is an early manifestation of progressive kyphoscoliosis, causing a reversal of body proportions. The radiological changes permit classification by establishing the presence of anisospondylia, a \"halberd shaped\" pelvis and epimetaphyseal ossification disorders. Inheritance is probably autosomal-recessive or dominant.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 3","pages":"153-6"},"PeriodicalIF":0.0,"publicationDate":"1980-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18379842","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
[Pylephlebitis after umbilical vein catheterization (author's transl)]. [脐静脉置管后幽门炎(作者简介)]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-03-01
H Wiedersberg, P Pawlowski
{"title":"[Pylephlebitis after umbilical vein catheterization (author's transl)].","authors":"H Wiedersberg,&nbsp;P Pawlowski","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In spite of extensive precausions and antibiotic therapy, pylephlebitis was found in 11 of 200 dead newborns as complicat infection after umbilical vein catherization. All stages from local pylephlebitis to suppurative hepatitis were found. The clinical manifestations are not characteristic and therefore misinterpreted very often. Umbilical vein infection should be taken into account in every newborn child with or after umbilical vein catheterization, even when the umbilicus appears normal, when body temperature is rising, the general condition is turning to the worse, and icterus is increasing. Blood picture and transaminase values might be helpful parameters. Reviewing the literature and reporting a case of fatal portal hypertension, pylephlebitis after umbilical vein catheterization is shown as a possible cause of the pseudo-Banti-syndrome in children.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 3","pages":"128-35"},"PeriodicalIF":0.0,"publicationDate":"1980-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18379841","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
[Concept of reliable laboratory test procedures (author's transl)]. [可靠实验室测试程序的概念(作者简介)]。
Monatsschrift fur Kinderheilkunde Pub Date : 1980-03-01
C D Koch, K Rommel
{"title":"[Concept of reliable laboratory test procedures (author's transl)].","authors":"C D Koch,&nbsp;K Rommel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Considering the multitude of tests in clinical chemistry and hematology, their low diagnositc sensitivity and specifity, and the low incidence of the diseases in a non selected population it is not possible presently to recommend a general screening procedure based on the definition of the reference, the methodological reproducibility and the diagnostic information of a test procedure it is possible to calculate the number of requests necessary to get any desired number of pathological results. \"Tell me how many pathological results you want and I'll tell you how many requests you need\". In order to get an optimal diagnostic information for clinical chemistry and hematological tests, it is necessary to increase the prevalence by proper selection of the patients and then to order test procedures specific for the suspected disease.</p>","PeriodicalId":19021,"journal":{"name":"Monatsschrift fur Kinderheilkunde","volume":"128 3","pages":"118-22"},"PeriodicalIF":0.0,"publicationDate":"1980-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"18037556","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
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