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Short-term effects of testolactone compared to other treatment modalities on longitudinal growth and ovarian activity in a girl with McCune-Albright syndrome. 与其他治疗方式相比，睾内酯对mcune - albright综合征女孩纵向生长和卵巢活动的短期影响。
Helvetica paediatrica acta Pub Date : 1987-06-01
B P Hauffa, W Havers, H Stolecke
{"title":"Short-term effects of testolactone compared to other treatment modalities on longitudinal growth and ovarian activity in a girl with McCune-Albright syndrome.","authors":"B P Hauffa,&nbsp;W Havers,&nbsp;H Stolecke","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In a 6 1/2-month-old girl with McCune-Albright syndrome, gonadotropin-independent isosexual precocity and recurrent ovarian cysts, the short-term effects of surgical therapy, cyproterone acetate (120 mg/m2/d), combined medroxyprogesterone acetate (10 mg/d), and spironolactone (50-75 mg/d) treatment, and testolactone (40 mg/kg/d) were evaluated sequentially. No significant reduction of cyst frequency was achieved with any of the medical treatments. The rate of bone maturation (delta BA/delta CA) was increased and the height standard deviation score (SDS) for bone age as a potential indicator of final height was decreased with surgical treatment alone and combined medroxyprogesterone acetate and spironolactone. Both parameters normalized with cyproterone acetate and testolactone. Height velocity SDS, however, was higher with testolactone (0.97 vs. 0.45).</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"471-80"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14104023","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
Short-term testosterone treatment at bone age of 12 to 13 years does not reduce adult height in boys with constitutional delay of growth and adolescence. 在12至13岁的骨骼年龄短期睾酮治疗不会降低患有体质性生长迟缓和青春期的男孩的成年身高。
Helvetica paediatrica acta Pub Date : 1987-06-01
M Zachmann, S Studer, A Prader
{"title":"Short-term testosterone treatment at bone age of 12 to 13 years does not reduce adult height in boys with constitutional delay of growth and adolescence.","authors":"M Zachmann,&nbsp;S Studer,&nbsp;A Prader","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Growth data and adult height from 22 untreated patients with constitutional delay of growth and adolescence (group 1) were compared retrospectively with those of 19 patients, who had received long-acting testosterone esters (100 to 250 mg per month, mean total dosage 1029 mg/m2) during 2 months to 3.25 years (mean duration 8.5 months, group 2). Age (group 1 15.4 +/- 1.2, group 2 16.2 +/- 1.4 years), bone age (group 1 12.6 +/- 1.3, group 2 13.1 +/- 1.2 years) at first examination (group 1) or start of treatment (group 2), and adult height (172.8 +/- 7.5 cm group 1, 176.8 +/- 8.0 cm group 2) were not significantly different. In group 2, there was no negative correlation between the total testosterone dose and adult height, and the latter corresponded to predicted height in the same way as in the untreated patients. It is concluded that short-term treatment with long-acting testosterone esters (100 to 250 mg per month during 6 months, starting at a bone age of about 12.5 years), which has positive psychosocial effects, does not have negative somatic effects and does not reduce adult height in these patients.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 1","pages":"21-8"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14787878","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
Polycystic kidneys as the presenting feature of tuberous sclerosis. 结节性硬化症的表现为多囊肾。
Helvetica paediatrica acta Pub Date : 1987-06-01
C Kristal, M Berant, U Alon
{"title":"Polycystic kidneys as the presenting feature of tuberous sclerosis.","authors":"C Kristal,&nbsp;M Berant,&nbsp;U Alon","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Tuberous sclerosis is an inherited neurocutaneous disorder characterized by seizures, mental retardation, cutaneous lesions and visceral hamartomas. We describe a 17-year-old boy in whom polycystic kidneys of the adult type were fortuitously detected on routine check-up. The patient enjoyed good health and had no evidence of renal dysfunction. Closer scrutiny of his past history and his physical and laboratory findings disclosed that he had tuberous sclerosis. Our case adds to the scant reported experience with the association of tuberous sclerosis and adult-type polycystic kidneys, and suggests that a search of additional manifestations of tuberous sclerosis is warranted in children in whom adult-type polycystic renal disease is detected.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 1","pages":"29-33"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14787879","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
[Preventive examinations in infants and small children. A longitudinal study of practicing pediatricians]. [婴幼儿的预防性检查。一项对执业儿科医生的纵向研究]。
Helvetica paediatrica acta Pub Date : 1987-06-01
E Joss, R Carrel, J C Vuille
{"title":"[Preventive examinations in infants and small children. A longitudinal study of practicing pediatricians].","authors":"E Joss,&nbsp;R Carrel,&nbsp;J C Vuille","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A prospective study to evaluate well-child examinations was based on a sample of 750 children drawn at random from the patients of 15 practising paediatricians who participated in the study. These children were followed from the age of 3 months, when each who was vaccinated also received a specified examination, until the age of 5 years. Participation in the program of examinations was still 86% at the age of 18 months. By the age of 4 1/2, the participation rate had dropped to 40%. Between the ages of 3 months and 18 months, 11.2% of the sample had been diagnosed as having a pathological disorder. Of the 97 diagnoses, 35 were detected during the newborn period; 25 were detected by means other than the well-child examinations; and 37 were directly attributable to the examinations. 28 of the 97 diagnoses were still valid at the age of 5 years, and 5 of those children had a serious handicap. In an additional 59 suspected diagnoses (7.8%) only 6 could later be confirmed as a pathological condition. Of the 300 children who attended the last well-child examination at age 4 1/2, 45 (15%) had one or more pathological findings. Seventeen of the 45 diagnoses were detected between the 18-month exam and the 4 1/2-year exam, and 30 were detected at the time of the last examination. The number of diagnoses per physician varied. From each sample of 50 children per doctor, 1 to 20 children would have a disorder. Twelve of the 15 paediatricians were appreciative of the structured exam schedule, and most intended to continue with some parts of the program after the study's termination.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"371-85"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14578914","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
Thyrotropin (TSH) secretion in L-thyroxine treated children: assessment by a ultrasensitive TSH immunoradiometric assay. l -甲状腺素治疗儿童促甲状腺素(TSH)分泌:通过超灵敏TSH免疫放射测定法评估。
Helvetica paediatrica acta Pub Date : 1987-06-01
G Radetti, B Pasquino, F Franzellin, G Mengarda
{"title":"Thyrotropin (TSH) secretion in L-thyroxine treated children: assessment by a ultrasensitive TSH immunoradiometric assay.","authors":"G Radetti,&nbsp;B Pasquino,&nbsp;F Franzellin,&nbsp;G Mengarda","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The clinical usefulness of the measurement of basal TSH by an ultrasensitive assay (IRMA) versus the TRH test has been challenged in 49 children treated with L-thyroxine. They were given suppressive or replacement therapy depending on the underlying disease. An absent response of TSH to TRH could be predicted from a basal TSH value less than 0.1 mU/l in 88.8% of the cases, while only in 77.7% from a basal TSH value = 0.1 mU/l. A basal TSH value found in the range of the normal children always predicted a normal TRH test. We conclude that a sensitive TSH assay has some clinical application in monitoring L-thyroxine therapy, but can not absolutely replace the TRH test.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"413-8"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14266968","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 47,XXY karyotype and unrelated malformative patterns: an unusual association. 47,xxy核型和不相关的畸形模式:一种不寻常的关联。
Helvetica paediatrica acta Pub Date : 1987-06-01
M Aricò, A Colombo, E Maserati, F Pasquali, G R Burgio
{"title":"The 47,XXY karyotype and unrelated malformative patterns: an unusual association.","authors":"M Aricò,&nbsp;A Colombo,&nbsp;E Maserati,&nbsp;F Pasquali,&nbsp;G R Burgio","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>47,XXY chromosome complement is relatively frequent (1/750-1000 male newborns) but has so far not been reported in association with malformative syndromes. Three cases of 47,XXY karyotype associated with an unrelated malformative pattern, the Silver-Russell syndrome in two cases and Noonan syndrome in one case are reported. The possibility of a phenotypic alteration of patients with the XXY karyotype by these malformative syndromes is considered.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"457-61"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14578767","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
[Experiences and attitudes of parents to ambulatory preventive and curative medical care in infancy and early childhood]. [父母对婴幼儿门诊预防性和治疗性医疗护理的经验和态度]。
Helvetica paediatrica acta Pub Date : 1987-06-01
R Carrel, E Joss, B Utinger, J C Vuille
{"title":"[Experiences and attitudes of parents to ambulatory preventive and curative medical care in infancy and early childhood].","authors":"R Carrel,&nbsp;E Joss,&nbsp;B Utinger,&nbsp;J C Vuille","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>376 families having a two-year-old child were asked about their experience and opinion concerning their child's outpatient preventive and curative medical care. Half the sample resides in two urban areas (\"the city\") and half the sample resides in three non-urban (\"the country\") locations with no practising paediatrician at the time of the interview. In the city, all but 4.6% of the parents took their children to a paediatrician for the first vaccinations at three months. Nearly all the paediatricians used this opportunity to fully examine the child. In the country areas, 59% of the families had their children vaccinated by the family doctor, 38% of whom used the occasion to fully examine the child. The other 41% brought the child to the nearest city in order to visit a paediatrician. A majority of parents (80%) in all sampled areas expressed a desire for regular well-baby examinations by a physician. The well-baby clinics staffed by nurses are used significantly more frequently by country parents than by city parents. In the country, there is no difference between those families using a paediatrician and those using a family doctor. The data suggest that the clinics are a supplement, and not a replacement, for the preventive care given by a physician.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"387-95"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14578915","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
Clinical application of a new simple method for the identification of mucopolysaccharidoses. 一种新的简易粘多糖鉴定方法的临床应用。
Helvetica paediatrica acta Pub Date : 1987-06-01
G V Coppa, C Catassi, O Gabrielli, P L Giorgi, R Dall'Amico, S Naia, G Panin, L Chiandetti
{"title":"Clinical application of a new simple method for the identification of mucopolysaccharidoses.","authors":"G V Coppa,&nbsp;C Catassi,&nbsp;O Gabrielli,&nbsp;P L Giorgi,&nbsp;R Dall'Amico,&nbsp;S Naia,&nbsp;G Panin,&nbsp;L Chiandetti","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The clinical application of a new method for the quantitative determination of urinary glycosaminoglycans (GAGs) is presented. 115 normal subjects and 44 patients affected by different types of mucopolysaccharidoses (MPSo-ses) have been studied by this method in comparison with the conventional borate-carbazole method. All patients showed an urinary GAG excretion well above the normal subjects. In particular, patients affected by Morquio syndrome showed values well beyond the normal range; on the contrary, with the borate-carbazole method, 6 out of 7 patients had borderline values of urinary GAGs. The new method is also more rapid and easier to perform than conventional methods.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"419-23"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14266969","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
Prevalence of Rett syndrome in Switzerland. 瑞特综合征在瑞士的患病率。
Helvetica paediatrica acta Pub Date : 1987-06-01
E Boltshauser, C Künzle
{"title":"Prevalence of Rett syndrome in Switzerland.","authors":"E Boltshauser,&nbsp;C Künzle","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In an extensive survey, 35 cases of Rett syndrome born in Switzerland were found. Only 5 probands were older than 20 years; the oldest subject was 37. The prevalence for 1967-1982 was 0.41/10,000 (= 1:24,600) girls. This is considered a minimum prevalence since complete ascertainment was not possible by this investigation. Prevalence figures from southern Sweden and west of Scotland are higher (approximately 1:15,000). Rett syndrome is apparently responsible for a considerable proportion of girls with neurodegenerative disorders.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"407-11"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14626793","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 results of pediatric-child psychiatric cooperation exemplified by the Pediatric Clinic of the Winterthur Canton Hospital 1971-1980]. [以温特图尔州医院儿科诊所1971-1980年为例的儿科-儿童精神病学合作诊断结果]。
Helvetica paediatrica acta Pub Date : 1987-06-01
R Baumberger, H S Herzka, M Leuenberger, A Fanconi
{"title":"[Diagnostic results of pediatric-child psychiatric cooperation exemplified by the Pediatric Clinic of the Winterthur Canton Hospital 1971-1980].","authors":"R Baumberger,&nbsp;H S Herzka,&nbsp;M Leuenberger,&nbsp;A Fanconi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This article reports on the diagnostic results of 232 patients who were examined in close collaboration by the paediatrician and the child psychiatrist at a Swiss children's hospital between 1971 and 1980. The main diagnosis was psychogenic disorders with mainly psychic symptoms in 53.9% of the cases, psychogenic disorders with mainly somatic symptoms in 37.1%, minimal brain damage in 11.2%, and disturbances of development in 8.6%. Psychosomatic symptoms as accessory findings were found in another 30%. Thus, functional somatic disorders were components of the polysymptomatic syndromes in more than 60% of the patients.</p>","PeriodicalId":75904,"journal":{"name":"Helvetica paediatrica acta","volume":"42 5-6","pages":"397-405"},"PeriodicalIF":0.0,"publicationDate":"1987-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14578764","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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