Biomedical subjects
Publications and source records attributed to A Fanconi.
The Calcium homeostasis in the perinatal period depends on the changes of the Calcium balance and on the influence of the three Calcium-regulating hormones parathyroid hormone, Calcitonin and 1,25-Dihydroxycholecalciferol. The most common disorder is neonatal hypocalcemia which occurs either as early type (frequent, mainly in prematures) or as late type (rare, probably due to transient hypoparathyroidism).
In a retrospective study the overall survival time of 205 cystinotic patients of six countries was determined. The median survival time was 8.5 years. The median time for 'renal death' (age at death due to uraemia or age at starting renal replacement therapy) was 9.2 years. The youngest patient dying of renal death was 5.2 years. No sex difference in survival time was noticed. Furthermore no difference in survival time was noted between the different countries. The analysis of the overall survival curve indicates no clear differences between the infantile and adolescent types of cystinosis.
In the pediatric hospitals and clinics of Zurich, St. Gallen, Winterthur, Aarau and Lucerne, 488 cases of coeliac disease have been found in children born between 1960 and 1978. The diagnosis was established clinically and confirmed by intestinal biopsy in each case. The data of coeliac patients diagnosed before 1966 and after 1975 has proven to be unreliable for statistical evaluation and were omitted from our calculations. During the years 1966-1975, 354 patients with confirmed coeliac disease and 412733 live births were registered. This corresponds, for the symptomatic coeliac disease, to an incidence of 1:1165 in the Northeastern part of Switzerland. A statistical analysis of the data confirmed its validity and the lack of trends during the period of study.
Blood glucose (BG) concentrations were measured in cordblood and in capillary blood 15 and 60 min after birth in 672 consecutive full term newborns with adequate birth weight and without major perinatal complications. The glucose oxydase method was used. The results (mean +/- 1 SD) were in umbilical vein 67.6 +/- 20.1 mg%, in umbilical artery 60.3 +/- 20.0 mg%, 15 min after delivery 49.4 +/- 20.5 mg%, and 60 min after delivery 47.5 +/- 17.4 mg%. In 29% of the babies umbilical artery BG was below 50 mg%. 12% showed a "hypoglycemia" below 30 mg% (1.7 mmol/l) after 15 min, 17.5% after 15 and/or after 60 min. Newborns with arterial cord BG below 50 mg% turned out to be hypoglycemic after 15 min three times more often than newborns with arterial cord BG above 50 mg%. Hypoglycemic babies at age of 15 min showed 60-min-BG-values of 40.4 +/- 13.0 mg% when they had received a 10% glucose feed (20-30 ml) at the age of 1/2 h, compared with 31.1 +/- 7.0 mg% without such a supplement. Although this "early hypoglycemia" was asymptomatic in nearly all our newborns, we tend to consider it as a serious risk factor for the occurrence of a potentially dangerous symptomatic neonatal hypoglycemia.
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Cooperation between pediatrics and child psychiatry in a children's hospital is becoming more and more important and necessary in dealing with many common problems such as psychological reactions to physical illness, psychosomatic disturbances, physical examination of psychiatric patients, and disorders and retardation of growth and development. The authors describe a cooperative model which has been developed and proved its usefulness during a period of 10 years. This method is an alternative to the traditional referral or consulting system, which involves little real cooperation between the two specialties, and also to excessive penetration of nonmedical psychology into pediatrics.
Means, standard deviations and smoothed percentiles of fetal weight, length and head circumference at birth, and weight of the placenta between 26 and 44 weeks of gestation are presented. The data are based on 5136 single and 208 twin, live-born newborn infants delivered at the cantonal Hospital Winterthur between 1969 and 1974. The percentile curves differ considerably from those of the widely used "Lubchenco-Curves". Fetal weight correction factors for maternal weight, parity and sex of the child are given. Among the various maternal and infantile variables influencing fetal growth, gestational age and maternal weight were found to be the most significant ones affecting weight and length of the newborn. Parity and sex of the child were of moderate, maternal height and nationality of minor importance.
The evaluation of perinatal growth requires different approaches depending on the chronological age of the infant. Basically, three periods of perinatal growth are to be distinguished: Intrauterine period: Growth during this period can be estimated by intrauterine growth standards representing fetal growth parameters at birth. Transitional period: Growth during the first 6 to 12 days of life is of transitional nature. It is characterized by large individual variations and does not follow any growth standards. Extrauterine period: After the 6th to 12th day of life growth rates are distinctly higher than those of intrauterine growth. Thus, intrauterine growth standards can not be applied to extrauterine growth, and separate growth standards are required to evaluate growth during this period. In this article combined intra- and extrauterine growth standards for weight, length and head circumference in boys and girls between 28 weeks of gestation and 8 weeks after term are presented. These growth standards are based on the Winterthur Newborn Study (1962-1974) and the Second Zurich Longitudinal Study (1974-1980).
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Forty patients with hypocalcemia and/or Albright's hereditary osteodystrophy were studied. Based on the estimation of serum calcium and parathyroid hormone (PTH) levels as well as the urinary cAMP response to infusions with parathyroid extract, it was possible to classify all of the patients studied as cases with idiopathic hypoparathyroidism (n = 6, low PTH, normal cAMP response), pseudohypoparathyroidism (PHP) type I (n = 18, high PTH, low cAMP response) and type II (n = 2, high PTH, normal cAMP response), as well as pseudopseudohypoparathyroidism (n = 14, normal PTH, normal cAMP response). In three cases studied at the age of 12, 17, and 23 yr, the signs of Albright's hereditary osteodystrophy were not observed. PTH levels were unusually high for a given serum calcium concentration in some patients with PHP, the increased PTH levels were, however, normalized during iv calcium infusions. In two young children with PHP, a gradual increase of serum PTH levels occurred despite persistent normocalcemia over a period of 3 yr. This suggests that factors other than hypocalcemia or frequent small unobservable falls of the serum calcium concentration, such as a deficient formation of 1,25-dihydroxyvitamin D3, secretion of an abnormal PTH, or an abnormal metabolism of the hormone, may contribute to the secondary hyperparathyroidism in PHP.
Case report of a 1 8/12-year-old boy suffering from an acute febrile disease with phlegmonous cervical lymphadenopathy, skin rash and other septic symptoms. Bacterial cultures were sterile, and antibiotics had no effect, whereas prednisone made an immediate improvement. On the 23rd day of illness the patient died unexpectedly. Autopsy revealed a ruptured coronary aneurysm due to periarteritis nodosa. This curious disease of yet unknown cause is quite frequent in Japan, but very rare in Europe.
The Swiss Neonatology Group was founded in 1972 to strengthen cooperation between obstetricians and pediatricians in this country. To this end a collaborative study was made of the incidence of respiratory distress syndrom in Switzerland during 1974. Almost every neonatal unit of the country participated, and the study thus covered the problem cases taken from approximately 90% of all Swiss newborns. 30% of the newborns hospitalized in neonatal units (or 2% of all Swiss newborns) developed a respiratory distress syndrome. 16% of these died. One third of all the cases of respiratory distress and two thirds of the deaths were due to hyaline membrane disease, which mainly occurred in prematures. The other cases of respiratory distress were divided between aspiration, transient respiratory distress and other pulmonary disorders. 31% of the newborns with respiratory distress syndrome underwent mechanical ventilation, more than half of these having hyaline membrane disease. The success already achieved by modern perinatology looks hopeful for the future.
Serial white blood cell counts were studied in 20 healthy full-term babies and 252 newborn babies of different birthweights (61 of them without and 191 with perinatal risks). Nonsegmented (band form) and segmented neutrophils participate in roughly equal quantities in the physiological postnatal neutrophil reaction, which begins 1 hour after birth (8100/mm3 +/- 2600), reaches the peak after 9 hours (15 500/mm3 +/- 4000), and drops to the initial level within 42 hours. During the first 3 days the shift to the left with the relative and absolute increase of the band forms is more significant for a perinatal infection than the rise of total neutrophil count, which can remain within the normal range. However, these changes are not specific for infectious diseases. In the period the white blood count has only a diagnostic value in relation with the age of the newborn in hours and with short term follow-ups. Newborns of low birth weight (under 2500 g) show lower absolute counts and less significant changes than newborns of normal birth weight.
Case report of a 18 year old boy with short stature, microceophaly, mental retardation and multiple dysmorphic signs. At the age of 9 years a severe generalised osteoporosis was discovered. A pathological fracture of the greenwoor type healed without proper callus formation. The osteoporosis persists without signs of either deterioration or improvement. The serum phosphorus is slightly decreased, while serum calcium, alkaline phosphatase and renal functions are normal. The main biochemical finding is a constant hyperclaciuria of 6-13 mg/kg/24 h, which can be corrected by treatment with oral sodium phosphate. No other chronic disease could be found which would explain the bone disease. The complex disease of this boy does not fit into the known pictures of osteogenesis imperfecta, idiopathic juvenile osteoporosis or of idiopathic hypercalciuria, and might therefore be another type of demineralising bone disease. It is suggested, that the cause might be an impairment of the calcium fixation of collagen fibres during desmal ossification.
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Explore the source record for details and available documents.