{"title":"[Diagnostic and therapeutic aspects of cerebral seizures caused by pseudohypoparathyroidism].","authors":"G Mattigk","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The knowledge of the pseudohypoparathyroidism is of great importance since the consequence of inadequate treatment may be serious. The most important features of the pseudohypoparathyroidism are the hypocalcemia and seizures. The following case concerns a patient with pseudohypoparathyroidism; the clinical symptoms and treatment of this disorder will be discussed.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"31 2","pages":"119-22"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12479720","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}
{"title":"[The toxicity of mercury in amalgam dental fillings].","authors":"K E Von Mühlendahl","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>1. A survey on the literature concerning the toxicity of amalgam is presented. 2. Opinions from various sources are discussed. It is found that there are no conclusive experimental results of clinical importance. Existing results on adults cannot be applied to children, who are more sensitive to amalgam. 3. Research into the toxicity of amalgam in children has begun. Results are expected later in 1992.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"31 1","pages":"21-5"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12479810","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}
{"title":"[Molecular biological analysis of cystic fibrosis--a model example for the strategy of \"reverse genetics\"].","authors":"C Coutelle, K Grade","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The elucidation of the basic defect causing cystic fibrosis (CF) is a paradigm for the application of \"reverse genetics\" to the analysis of human genetic disease. Following this strategy, linkage analysis localized the responsible gene for CF on chromosome 7. Chromosome mediated gene transfer and chromosome walking and jumping led to the isolation of the CFTR-gene and its cDNA. A major 3 bp deletion mutation (DeltaF508) and more than 100 other mutations of this gene have been identified as molecular basis of cystic fibrosis. The CFTR-amino acid sequence, obtained by conversion of the cDNA-sequence, indicates that CFTR belongs to a group of integral membrane transport proteins (ABC-proteins). The normal cAMP-stimulated chloride-transport, lacking in CF-cells is restored by transfer and expression of CFTR-cDNA-recombinants in these cells. CFTR is most likely itself a chloride channel. The molecular identification of this gene has already led to substantial advances in diagnosis and prevention of this disease. New therapeutic approaches by pharmacological means or gene therapy are expected from the further molecular and functional analysis of the CFTR-gene.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"31 2","pages":"73-95"},"PeriodicalIF":0.0,"publicationDate":"1992-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12459618","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}
{"title":"[Symptoms of tic in childhood].","authors":"P Fehlow","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Literature at the tic phenomen of the last 100 years is reviewed. Phenomenology, incidence, etiology, differential diagnosis and therapy are exhibited.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 6","pages":"473-83"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12921437","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}
{"title":"[Specific gene deletion in patients with cystic fibrosis: pilot study of a small patient cohort].","authors":"W Scheurlen, R Jeschke, H W Kreth","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Identification and molecular cloning of the cystic fibrosis (CF)-gene was a major progress in genetic counseling of families with one or more affected children. In caucasian families about 70% of the CF-patients show a homozygous or heterozygous deletion of one amino acid, that is phenylalanine at position 508 (delta F508). In a pilot study we examined the DNA of 14 CF-patients for F508 deletions. DNA was amplified by PCR and hybridized with a oligonucleotide-probe specific for the mutation containing CF-gene. Surprisingly all of the patients had a deletion of F508 of at least one allele (10 for both alleles, 4 for one allele). This method is of great importance for carrier-diagnosis. The finding of these or other deletions within the CF-gene may represent a prognostic marker for this disease.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 4","pages":"275-81"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13082698","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}
S Wiersbitzky, E H Ballke, E Abel, A Weber, J Abel, F Heydolph, H Wiersbitzky, R Bruns, B Griefahn
{"title":"Serum prolactin concentration and hypothalamic-pituitary hormone release in CF-children.","authors":"S Wiersbitzky, E H Ballke, E Abel, A Weber, J Abel, F Heydolph, H Wiersbitzky, R Bruns, B Griefahn","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Some experimental data from animals suggest that prolactin (PROL) is involved in sweat production and modulates the chloride concentration of sweat. We determined the serum PROL level by RIA in 38 CF-patients (age: 3-24 years) and 48 patients with bronchial asthma (age: 2-18 years) and found no concentration differences between the two groups each taken as a whole; the TSH level was increased in CF (p less than 0.05). Separate analysis showed a significantly higher PROL level in CF-females and in CF-children (male and female) under 12 years old (p less than 0.05). To assess the hypothalamic-pituitary system we performed the metoclopramide test (by Cerucal) on 30 children suffering from CF (n = 10), bronchial asthma (n = 10) or pyelonephritis (n = 10) for PROL, LH, FSH, TSH and HGH. The hormone release was normal for all kinds checked in all groups of patients. Hence it follows that the neurohormonal system of prolactin is normal in CF-patients and the increased serum PROL and TSH concentrations in CF should be seen as a regulatory phenomenon but not as a mechanism associated with the basic defect of the CF-disease.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 4","pages":"283-8"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13082699","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}
{"title":"[Induction of optokinetic nystagmus in infants and young children by a horizontally, diagonally or vertically moving striped pattern].","authors":"M Schwarzbach, P Schwartze","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Horizontal optokinetic nystagmus (H-OKN) in infants is often described in contrast to diagonal (D-OKN) and vertical (V-OKN) nystagmus. No systematic investigation has been carried out to test the elicitability of D- and V-OKN in relation to the direction of the moving stimulus or the effect of stimulating the two eyes simultaneously or separately. We examinated the elicitability of H-, D- and V-OKN in more than 400 infants between birth and 5 years of age in two test situations: with both eyes open and with one eye covered. The stimulation device was a (hand-driven) drum of 12.2 cm diameter, on which a paper sheet with a pattern of black and white stripes (20 mm) kept in a horizontal, diagonal and vertical position, respectively. The distance to the infant's face was kept at ca. 25 cm. The occurrence of OKN was studied in all the six stimulation situations. Results demonstrated a clear developmental course in the monocular tests situation of the occurrence of OKN: at first only horizontal OKNs can be elicited, thereafter diagonal and finally vertical OKNs appeared. In general OKNs in all 6 testsituations are evident from the age of 3-24 months. However, in risico infants, deficits in at least one of the test situations were observed until the age of 5 years. Our results point towards a role of testing OKN as a screening method for detecting visual or brain dysfunction.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 3","pages":"167-82"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13223583","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}
W Handrick, M Borte, E Herrmann, F B Spencker, W Tischer, J Bennek
{"title":"[Bacterial bone and joint infections in childhood--a review. 3. Bacterial arthritis].","authors":"W Handrick, M Borte, E Herrmann, F B Spencker, W Tischer, J Bennek","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This overview presents the most important topics of etiology, pathogenesis, diagnostics, differential diagnostics and treatment of septic arthritis in children. A child with bacterial arthritis is always a case of emergency. Only immediate and adequate treatment can avoid permanent sequelae. Medical care for these patients should be done always in close cooperation of pediatricians, pediatric surgeons, radiologists, and sometimes orthopedists.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 5","pages":"413-20"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13104141","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}
{"title":"[Causes, mechanisms and therapy of functional fecal incontinence in children].","authors":"A I Lönuschkin, T W Gascheschiladse, G S Dawitaja","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>1. In case of encopresis in childhood about 50% are caused by disorders of perceiving the need to relieve the bowels and bowel movement, about 30% are caused by disorders of controlling the adaptation mechanism of the rectum or the defecation reflex and about 15% are caused by disorders of the sphincter apparatus. 2. A nonsurgical therapy must be a complex one. Its effect has to aim at concerning the psychoneurologic state, conalizing the reflexes, bettering the conductivity of the nerves as well as enhancing the sphincter-tonus. In addition to psychotherapy, gymnastics and sphincter-training the transrectal and intrarectal electrostimulation is of great importance. 3. To form an estimate of the mechanism of encopresis-pathogenesis many different methods are necessary and possible; these are the precondition for an effective differentiated therapy.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 6","pages":"491-500"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"12921439","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}
{"title":"[Bacteriologic diagnosis in suspicion of bacterial infection in newborn infants--a review].","authors":"F B Spencker, W Handrick","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The present paper gives a survey about bacteriological examinations, which had proved worthwhile in relation to own experiences and to the literature. Besides methods of preliminary diagnostics cultural examinations of samples from normally sterile body sites are in the center of discussion. The value of body surface cultures, however, especially swabs used for possible prediction of threatening infection is also discussed.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 3","pages":"183-92"},"PeriodicalIF":0.0,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13223584","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}