Helvetica paediatrica acta最新文献

Two male siblings and one girl with the 3-M syndrome are reported. The main clinical features include low birthweight, proportionate dwarfism, hatched-shaped cranio-facial configuration, abnormalities of mouth and teeth, short broad neck with prominent trapezius, pectus deformity, transverse grooves of anterior chest, and winged scapulae.

In this study the authors analysed the evolution of blood urea nitrogen in 14 infants during treatment of hypernatremic dehydration. BUN values decreased at a low rate comparing with usual standard limits: a) a correlation between initial BUN and natremia was observed, b) in 9 out of 14 infants there was a transient elevation of BUN, between 5 to 24 hours after the beginning of rehydration, and c) renal function was normal in 8 children who were reevaluated 3 to 28 months after the episode of dehydration.

A girl with Turner syndrome and sagittal synostosis is described. The patient had a normal psychomotor development and no neurological impairments. Since more severe forms of craniosynostosis can occur in patients with Turner syndrome, a careful examination of the skull should be performed in all patients with this syndrome.

We describe a 14-month-old child with dermatomyositis in whom calcinosis was the first sign of the disease. This case shows that calcinosis, usually a late complication of dermatomyositis, may be the presenting sign of the disease even in young children and when Gottron's sign is still absent and muscular weakness not prominent.

A patient with coarse facies, craniosynostosis, recurrent staphylococcal infections with pneumatocele formation is described. Laboratory features included moderately elevated serum IgE, cutaneous anergy, decreased numbers of T-suppressor cells and variable inhibition of neutrophil chemotaxis. The combination of clinical findings suggests the diagnosis hyper-IgE syndrome, though the total IgE serum concentration (800 U/ml) and the level of IgE-specific antibodies to staphylococci (9.4%, normal less than 5%) were only slightly elevated.

The purpose of this paper is to set forth the standards of weight and height for the Japanese children and to discuss the mathematical methods utilized for the study. In 1980, Japanese Ministry of Health and Welfare and Ministry of Education conducted a nationwide survey of weight and height in a total of some 680,000 children from birth to 18 years of age. These data were utilized for the present study. In order to draw a mathematically designed smooth curve, we divided the subjects into 4 age groups and expressed each percentile curve of the age range in terms of a polydimensional and polynominal function using the least square method. In comparison with the presently available eye-fit cross-sectional percentile growth curve, our growth curve appears to better simulate physical growth of the contemporary Japanese children.

The analysis of clinical and hematological data for prognostic relevance in 200 children with acute lymphocytic leukemia (ALL), diagnosed between January 1964 and December 1980, showed that the importance of single risk factors has changed due to improvements in therapy. Morphology and cytochemistry lost their prognostic value they had in those patients treated before October 1971. In the children treated in the seventies, the WBC became the most important prognostic factor, followed by infiltrate size and age. (Age was less important than infiltrates for remission duration, but more for survival.) Immunological markers were evaluated in 56 children, since 1974. Because of the small number, no significance as risk factor was found. Those 25% with E+ blasts tended to have only a slightly worse course than "non-T-non-B"-ALL. Treatment became a highly significant risk factor, because of the improvement in results between those patients treated with CALGB protocol 6801 and those on protocol 7111. Two steps were responsible for this: better treatment strategies, and, most important, CNS-prophylaxis (or "sanctuary"-treatment) in all patients. Even in the sixties, where IT methotrexate alone was given sporadically, omitting the CNS-prophylaxis represented an important risk factor. Since 1971, most patients received cranial irradiation or intermediate dose methotrexate as second mode of CNS-prophylaxis. This resulted in a significant decrease in the incidence of CNS relapse. CNS-prophylaxis mode therefore represented a significant prognostic factor, although age, WBC and infiltrates had become more important. Evaluation of the clinical and hematological data gave the following limits for an increased or lesser risk: WBC over 30.G/l: high risk, under 10.G/l: favourable. Age: below 1 year and over 10 years: high risk, 1-2 years: probably moderately increased risk. Infiltrates: no palpable hepatosplenomegaly and no lymph nodes: favourable, all palpable infiltrates: "standard" or increased risk. Platelets (under 30.G/l) represented a minor good risk factor. The common ALL antigen (CALLA) was not yet examined in this series, calling it a favourable factor is based on recent experience from other centers. T-markers are probably not a risk factor by themselves, but other poor prognostic signs are usually associated and of primary importance. If treatment will be based on risk classification, it is important to keep in mind that treatment improvements might change the significance of any prognostic factor completely.

In this report we describe a male newborn with a deletion of the distal part of the long arm of chromosome 11 (46,XY,del(11)(q23.1----qter). In addition to the typical craniofacial changes of the distal 11q monosomy syndrome, i.e. trigonocephaly, short nose with upturned nares, and large mouth with downturned corners, this male newborn presented a number of peculiar additional anomalies: extremely short neck, accessory nipples and camptodactyly of all fingers. The clinical findings are in agreement with the fact that deletion of the 11q24.1 subband is essential for the characteristic phenotype, and that the additional anomalies are due to deletion of the more proximal 11q23 band.