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Biomedical subjects

H E Gnehm

Publications and source records attributed to H E Gnehm.

At least 19 recordsLinked to original sources
PubMed1999

"Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3).

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23-->pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23-->pter) characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears.

Abnormalities, Multiple↗
PubMed1997

[MMR, diphtheria-tetanus and polio vaccination of students in Aargau].

In order to update our information concerning immunization coverage in Switzerland we analysed data from the public school immunization program of the canton of Aargau between 1988-90. We compared these results with those of two districts from the school year 1993-94. 97% of all the matriculating or graduating school children could be reached. As expected, the immunization rates of 98% for poliomyelitis and 96% for diphtheria/tetanus were high. Following initiation of the nationwide MMR (Measles/Mumps/Rubella) Immunization Program in 1987, coverage of preschool children with the MMR-vaccination could be improved from 44% in the late 1980's to 70-80% in the early 1990's. As a result of offering the vaccine free of charge to all matriculating and graduating children, the MMR-immunization rate could be increased to 90-94%, and the measles immunization rate even further to 97% indicating the importance of the school immunization program. This high level of acceptance in Aargau shows that an increase in the immunization rate even in infant and preschool children can be realised, if the pediatricians and the general practitioners improve their efforts. In regions with similar epidemiological conditions MMR-reimmunization in school children is to be recommended.

Child↗
PubMed1997

[Transitory neonatal hypothyroidism caused by transplacental transfer of anti-receptor antibodies of hypophyseal thyroid simulation. Case report and estimated incidence].

Transient neonatal hypothyroidism induced by transplacental transfer of thyrotropin receptor-blocking antibodies is rare, but should be diagnosed early because its course, treatment, and prognosis are different from the other forms of congenital hypothyroidism. Transient neonatal hypothyroidism should be suspected in infants with a history of maternal autoimmune thyroid disease. We describe two siblings whose mother has been treated for idiopathic primary nongoitrous hypothyroidism since adolescence. High levels of thyrotropin receptor-blocking antibodies were first detected in maternal serum at the time of the first child's birth. At the time of the second child's birth antithyroid peroxidase antibodies were found in addition to the thyrotropin receptor-blocking antibodies. Both children were clinically healthy newborns without evidence of congenital malformations. Thyroid suppression, reflected by high levels of TSH during neonatal screening, was transient in both infants. Hormonal substitution was only necessary in one child for a period of 4 months. When tested at the age of 6-7 months, maternal antibodies had completely disappeared from the infants' sera. At ages 7 and 4 years respectively the 2 children do not require treatment and show normal growth and neurodevelopmental skills. In the north-eastern part of Switzerland congenital hypothyroidism has an incidence of one in 3300 live-born infants, the most frequent form being permanent congenital hypothyroidism (1:4500). In this population, analyzed over a period of 16 years, the two cases reported represent the only observations of transient neonatal hypothyroidism due to thyrotropin receptor-blocking antibodies; the incidence can thus be estimated to be approximately 1:310,000 live newborns. In this rare condition, early recognition is pertinent in order to avoid unnecessary treatment and parental anxiety.

Adolescent↗
PubMed1996

Arginine vasopressin and renin in acutely ill children: implication for fluid therapy.

The hypothesis was tested that in young children when admitted to the hospital for acute illness, vasoactive hormone levels are raised. The plasma concentration of arginine vasopressin (AVP) and plasma renin activity (PRA) were measured in 103 acutely ill infants and children admitted to the hospital. Compared to 31 control children with elective surgery, plasma AVP and PRA levels were significantly elevated and plasma osmolality reduced in acute illness, indicating non-osmotic, cardiovascular AVP release. AVP and PRA elevations were found to be independent of the underlying diseases (e.g. respiratory infections, gastroenteritis, bacterial infections and the viral syndrome). Since cardiovascular AVP activation bears the risk of hyponatraemia in the case of hypotonic fluid therapy, initial fluid management should be performed with solutions containing half-normal or normal saline in acutely ill children.

Acute Disease↗
PubMed1995

Hyponatraemia and hyperkalaemia in acute pyelonephritis without urinary tract anomalies.

UNLABELLED: Three children with severe hyponatraemia and hyperkalaemia associated with acute pyelonephritis are reported. All were very young male infants in a poor general condition and seriously dehydrated. Diagnostic procedures did not detect obstructive uropathy or vesico-ureteric reflux. CONCLUSION: Hyponatraemia and hyperkalaemia occurs in young infants with severe acute pyelonephritis in the absence of obstructive uropathy or vesico-ureteric reflux. The severe inflammation of the kidney itself may explain the electrolyte disturbance by a transient resistance of the distal tubule to aldosterone.

Acute Disease↗
PubMed1995

[Congenital toxoplasmosis: pediatric approach. Consensus report of the Swiss infectious disease pediatricians].

The first part of this paper reviews: (1) the spectrum of clinical features of congenital toxoplasmosis; (2) the natural course of fetal infection; (3) the influence of antitoxoplasma therapy on the course of the disease; (4) methods for diagnosing the toxoplasma infection and assessing the severity of the disease; (5) currently used antitoxoplasma drugs and different therapeutic regimens. The second part suggests a practical approach to the problem of congenital toxoplasma infection, including diagnostic work-up, drug therapy, and follow-up. This practical approach is modulated according to the clinical syndrome in the infant and diagnostic and therapeutic considerations in the mother.

Coccidiostats↗
PubMed1993

Dexamethasone therapy for bacterial meningitis in children. Swiss Meningitis Study Group.

Routine use of steroids as adjunctive treatment of bacterial meningitis remains controversial. We have carried out a prospective, placebo-controlled, double-blind study of dexamethasone in 115 children with acute bacterial meningitis in Switzerland. The patients were randomly assigned to receive either placebo (n = 55) or dexamethasone (n = 60) in addition to optimum antibiotic treatment (100 mg/kg daily ceftriaxone). Dexamethasone therapy (0.4 mg/kg) was started 10 min before the first dose of ceftriaxone and given every 12 h for 2 days. Baseline demographic, clinical, and laboratory features of the two groups were similar. After 24 h treatment meningeal inflammation as shown by cerebrospinal fluid (CSF) glucose concentration was significantly less with dexamethasone than with placebo (mean increase in glucose 63 [76] vs 40 [75]%, p = 0.008). However, other indices of inflammation showed similar changes in both groups. Addition of dexamethasone did not affect the rate at which CSF became sterile. Both groups showed prompt clinical responses and similar frequencies of complications (15 vs 12%). Monitoring for possible adverse effects of dexamethasone revealed no abnormalities. At follow-up examinations 3, 9, and 15 months after hospital discharge, 9 (16%) of 55 placebo recipients and 3 (5%) of 60 dexamethasone recipients had one or more neurological or audiological sequelae (p = 0.066); the relative risk of sequelae was 3.27 (95% CI 0.93-11.47). Our results and those of similarly designed studies lead us to believe that adjunctive dexamethasone therapy improves outcome from bacterial meningitis in infants and children. We recommend its use, preferably in the dose regimen used in this study.

Adolescent↗
PubMed1992

[Vitamin D poisoning in infants: a preventable cause of hypercalciuria and nephrocalcinosis].

The established prophylaxis for vitamin D-deficient rickets today is 400 IU vitamin D3 given daily during the first year of life. With this regimen, vitamin D intoxication is a rare event. Nevertheless, we have recently seen 4 infants with vitamin D intoxication after a so called "stoss" prophylaxis, i.e. twice 300,000 units (7.5 mg) vitamin D3 orally within 4 weeks. One patient presented with failure to thrive due to marked hypercalcemia (3.9 mmol/l) and nephrocalcinosis, 2 patients showed medullary nephrocalcinosis on ultrasonography and one patient had gross hematuria and spontaneous passage of a calculus. Three patients had massive hypercalciuria (calcium/creatinine ratio 1.8-4.8 mol/mol, normal less than 1). The 25 (OH) vitamin D3 plasma levels, measured only in 2 patients, were strikingly increased (270 and 158 nmol/l, respectively, normal 25-80). Urinary calcium excretion slowly decreased to normal values on a low calcium diet and high fluid intake. Nephrocalcinosis, however, persisted in 2 patients and showed a slight progression ultrasonographically in one patient. The short time interval between vitamin D administration and onset of symptoms and the subsequent clinical course provide strong evidence that hypercalciuria and nephrocalcinosis were due to vitamin D "stoss" prophylaxis in all four cases. In conclusion, there is no indication for vitamin D "stoss" prophylaxis for vitamin D-deficient rickets in infants. Vitamin D intoxication still has to be considered as a possible cause of hypercalciuria.

Calcifediol↗
PubMed1989

[Effects of air pollutants on the respiratory system in young children].

A one year study on a random sample of 1225 Swiss children aged 0-5 years was conducted in four different areas (two urban, one suburban and one rural) of Switzerland to investigate the relationship between air pollution and respiratory symptoms. For each child daily symptoms over a six week period were recorded by their parents in the form of a standard diary and air pollution was assessed by personal NO2-samplers. 20% of the diaries were validated by comparison with the attending pediatrician's case-notes and showed good agreement (87%). The frequency of respiratory symptoms per child per day was found to increase with increasing levels of NO2 measured outdoors, but not with NO2 concentration indoors (when other indoor sources for NO2 where present). Possible other factors were accounted for by multiple regression analysis and the variables "season" and "child's susceptibility to colds" also showed a significant association with respiratory symptoms. But the relationship between NO2 outdoors and respiratory symptoms per child per day remained statistically significant. The multiple regression model explains 7% of the total variability. The result indicates that air pollution is a contributory factor in the development of respiratory symptoms in children.

Air Pollutants↗
PubMed1989

[Preventive medical examinations in infants, children and adolescents].

Pediatric health care is one of the specialties in medicine for which prevention is the most traditional and most essential activity. In this brief review the office practice of Swiss pediatricians is discussed to give insight into the needs of children and their families concerning their health problems and the health services delivered in respect to check-ups and counseling. Age specific concerns and screenings are summarized. More special attention should be devoted to the health counseling for adolescents.

Adolescent↗