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Biomedical subjects

H E Gnehm

Publications and source records attributed to H E Gnehm.

17 recordsLinked to original sources
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↗
PubMed1986

Diagnostic and pathogenetic aspects of subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis, usually a rapidly progressive and fatal disease, is a slow virus infection, where measles virus persists in cells of the CNS and in lymphocytes. Four patients, 3 boys and 1 girl, are described, who presented a characteristic disease course, beginning at the age of 12 to 14 years after they had contracted measles infection during infancy or early childhood. The diagnostic criteria including clinical and laboratory CSF findings are summarized, and epidemiologic features related to measles and measles immunization are briefly discussed. In two patients specific measles virus protein antibodies in serum and CSF were analyzed. The results confirm postulated mechanisms for viral persistence in the CNS and suggest in addition a possible role of the viral protein H in the pathogenesis of SSPE.

Adolescent↗
PubMed1986

Severe neonatal centronuclear (myotubular) myopathy: an X-linked recessive disorder.

Prenatal onset and rapidly fatal course of centronuclear myopathy are described in four male newborns including two brothers. Diagnosis was established by muscle biopsy within the first week of life in two and at autopsy in the two other patients: Central nuclei, central aggregation of oxydative enzyme activity in the majority of muscle fibers and type 1 fibre hypotrophy were demonstrated. Prenatal manifestation included polyhydramnios, reduced fetal movements and breech presentation. All four newborns developed respiratory insufficiency requiring artificial ventilation immediately after birth. Severe muscular weakness and hypotonia as well as hardly elicitable grasping, deep tendon reflexes and Moro response were noticed. Additional findings included high arched palate, joint contractures, thin ribs, lung hypoplasia, abundant skin and cryptorchidism. In two families, the pedigree contains other affected males, suggesting X-linked inheritance. Seven female carriers were clinically healthy and one of them showed normal muscle histology. Fourteen previously published neonatal cases of centronuclear myopathy are reviewed and compared with our findings. This severe perinatal form of centronuclear myopathy has to be considered in male fetuses and newborns with polyhydramnios and respiratory failure due to muscular weakness or in infants who died of unexplained postnatal asphyxia. Diagnosis should be established by muscle biopsy.

Genetic Carrier Screening↗
PubMed1985

Modification of otitis media in chinchillas rechallenged with nontypable Haemophilus influenzae and serological response to outer membrane antigens.

Otitis media was produced in chinchillas by right-sided intrabullar inoculation with nontypable Haemophilus influenzae, and susceptibility to reinfection was investigated. After resolution of initial right-sided infection, animals underwent ipsilateral or contralateral intrabullar rechallenge with the same strain. After ipsilateral rechallenge right ears were completely protected against reinfection; previously uninfected left ears were similarly protected on contralateral rechallenge. Previously infected ears remained fully susceptible to infection with a heterologous strain of nontypable H. influenzae. Using an enzyme-linked immunosorbent assay, we measured the serological response to outer membrane protein and lipopolysaccharide antigens during initial infection. A greater than or equal to 10-fold rise in titer of antibody to homologous outer membrane proteins was observed in all 11 animals tested. Most animals exhibited a minimal serological response to lipopolysaccharide. Thus experimental otitis media due to nontypable H. influenzae induces strain-specific protective immunity and a concomitant serological response to outer membrane proteins.

Animals↗
PubMed1985

Characterization of antigens from nontypable Haemophilus influenzae recognized by human bactericidal antibodies. Role of Haemophilus outer membrane proteins.

Major outer membrane antigens, proteins, and lipopolysaccharides (LPSs), from nontypable Haemophilus influenzae were characterized and examined as targets for complement-dependent human bactericidal antibodies. Outer membranes from two nontypable H. influenzae isolates that caused otitis media and pneumonia (middle ear and transtracheal aspirates) were prepared by shearing organisms in EDTA. These membranes were compared with membranes prepared independently by spheroplasting and lysozyme treatment of whole cells and found to have: similar sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE) patterns of the proteins; identical densities (rho = 1.22 g/cm3); and minimal d-lactose dehydrogenase activity indicating purity from cytoplasmic membranes. Outer membranes were solubilized in an LPS-disaggregating buffer and proteins were separated from LPS by molecular sieve chromatography. The SDS-PAGE patterns of outer membrane proteins (OMPs) from the two strains differed in the major band although other prominent bands appeared similar in molecular weight. LPS prepared by hot phenol water extraction of each of the strains contained 45% (pneumonia isolate) and 60% (otitis isolate) lipid (wt/wt), 49% and 50% carbohydrate (wt/wt), respectively, and less than 1%, 3-deoxy-manno octulosonic acid. Immunoglobulin M (IgM) purified from normal human serum (NHS) plus complement was bactericidal for both strains. Purified immunoglobulin G (IgG) from NHS killed the middle ear isolate and immune convalescent IgM from the serum of the patient with pneumonia killed his isolate. NHS or convalescent serum were absorbed with OMPs and LPS (0.6-110 micrograms) from each of the strains and immune specific inhibition of bactericidal antibody activity by each antigen was determined. OMPs from the pulmonary isolate inhibited bactericidal antibody activity directed against the isolate in both NHS (1.5 microgram of antigen) and immune serum (0.75 microgram of antigen). OMPs (60 micrograms) from the ear isolate also inhibited bactericidal activity in the respective immune serum. LPSs exhibited minimal inhibition (greater than 110 micrograms). Three human sera (two normal, one immune) were selectively depleted of 80% of antibody activity against OMPs (measured by enzyme-linked immunosorbent assay) by affinity chromatography using OMPs from the pulmonary isolate coupled to a solid phase. These OMP antibody-depleted sera also showed an 88% reduction of bactericidal activity against this strain. Immunopurified antibody against OMPs eluted from the solid phase was bactericidal.

Adult↗
PubMed1979

Posttraumatic anterior pituitary insufficiency in childhood.

5 patients are presented in whom cerebral trauma of varying intensity during childhood was followed by pituitary insufficiency. There was no correlation between the severity of injury and subsequent hormonal defects. Among other anterior pituitary hormone defects, growth retardation secondary to growth hormone deficiency is a predominant feature in the pediatric age group. Only one patient requires treatment of neurohormonal diabetes insipidus. The prevalence of traumatic origin among the hypopituitary dwarfs observed in our departement is 3.7%.

Adolescent↗
PubMed1976

Testosterone treatment of excessively tall boys.

Twenty-nine tall boys with a mean height prediction of 198 cm were treated for serious psychosocial reasons with high doses of a long-acting testosterone preparation (500 mg/m2/month). Their ages at the start of treatment ranged from 9.8 to 16.9 years, and the mean duration of treatment was 1.2 years. Bone age was assessed according to the Tanner-Whitehouse II (RUS) method, and height predictions were calculated using the age-specific regression equations of Tanner and colleagues. On the basis of bone age at the start of treatment, three groups were formed (bone age 12.1 to 14, 14.1 to 15, and greater than 15 years), and the results were assessed separately. In the whole series, adult height was reduced by 5.4 cm; the best results (8cm) were achieved in the youngest bone age group. Under treatment, bone maturation was accelerated (1.8 years per year) and growth velocity increased (youngest bone age group) or was normal (older bone age groups). Testicular volume remained prepubertal in young patients and decreased in older ones. After discontinuation of treatment, testicular volume and sperm count became normal again after a mean period of 1.5 years, but in a few cases recovery was slower. It is concluded that adult height in tall boys may be effectively reduced by testosterone, that the results are best if treatment is started in early puberty, and that the suppressing effects on pituitary and testicular function are fully reversible. Since the indication for treatment is a psychosocial one, the patients should be carefully selected, taking into account not only growth but also psychological and familial factors.

Adolescent↗
PubMed1975

[Perinatal transmission of Plasmodium falciparum malaria].

Two weeks after leaving Nigeria for temperate zones and a few hours after giving birth to twins, a nigerian mother suffered an acute attack of malaria due to Plasmodium falciparum accompanied by cerebral, renal and hematolgical complications. Both infants were apparently healthy at birth, and no parasites were found on peripheral blood smears. Both placentas were macroscopically normal. At two months of age the second infant, a boy, developed non-febrile hemolytic anemia due to Plasmodium falciparum. The clinical picture and pathogenic mechanisms of perinatal malaria are discussed. Possible protection of the twin sister by partial glucose-6-phosphate dehydrogenase deficiency is considered.

Adult↗