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Biomedical subjects

K Baerlocher

Publications and source records attributed to K Baerlocher.

At least 19 recordsLinked to original sources
PubMed1991

Variant of hyper-IgE syndrome: the differentiation from atopic dermatitis is important because of treatment and prognosis.

The hyper-IgE syndrome is characterized clinically by recurrent staphylococcal abscesses of the skin, lungs and other sites from infancy. Affected patients also have a pruritic dermatitis that differs in character and distribution from lesions of atopic dermatitis. Most lack other signs of atopic disease, develop persistent pneumatoceles and have osteopenia. Laboratory abnormalities include the consistent presence of marked hyperimmunoglobulinemia E and eosinophilia of blood, sputum and tissues. They may have other inconsistent abnormalities of humoral and cellular immune responses and sometimes of phagocytic cell chemotactic responsiveness. Other clinical problems reported in such patients have included lymphomas, cryptococcal meningitis and cutaneous fungal disease. An 18-year-old male patient with a variant of the hyper-IgE syndrome, which he had acquired after a measles attack at the age of 5 years, suffered from recurrent ulcerative dermatitis and lymph node abscesses. Immunological investigation revealed an excessively elevated total serum IgE level (46,850 IU/ml), the presence of specific IgE to staphylococci, and quantitative and functional deficiency of IgG2. Skin and serological (radioallergosorbent) tests to inhalant and nutritive allergens were negative. Differentiation from atopic dermatitis should be made, because a long-term antistaphylococcal regime not only improves skin lesions but hinders the occurrence of lung abscesses and pneumatoceles.

Abscess↗
PubMed1991

[Current aspects of infant nutrition].

It is still an important duty for pediatricians to inform parents about infant nutrition. An effort to insure successful breastfeeding in newborns is particularly necessary in order to avoid the introduction of foreign proteins, especially in high risk children. Allergy prevention is thus instigated early on. If necessary, a hypoallergenic milk may be used. Recently, there has been great concern that a high content of dioxine in breast milk exists, higher than in infant formulas. However, no evidence of toxicity has been noticed to date in breast fed children due to dioxine. Therefore, because of the many advantages, breast feeding should still be recommended for the first 4-6 months. In the last few years infant formulas have been adapted to simulate breastmilk by supplementation with taurine, carnitine and nucleotides. Most recently, Omega-3-fatty acids, which are important constituents of membrane phospholipids in the nervous system and the retina, have been added. In infant nutrition there is a trend nowadays toward unconventional forms of nutrition. An exclusive "lactoovo-vegetable" diet is able to meet all the requirements of a growing child. The critical components of a vegetarian diet are iron, calcium, vitamin B12 and vitamin D. These few examples demonstrate how important a nutrition-committee could be in elaborating basic information for the pediatrician, which would be useful in his daily work.

Breast Feeding↗
PubMed1990

[Dubowitz syndrome: a dysmorphism syndrome with developmental delay, transitory short stature, hyperactive behavior and atopic dermatitis].

The Dubowitz-syndrome, a rare, autosomal-recessive condition, was seen in a 6-year-old female patient. Verbal, fine motor, and social development were severely retarded. Behavioral disturbances, predominantly hyperactivity were apparent. Short stature of unknown origin became evident during infancy and early childhood. Atopic dermatitis and specific sensitivity to inhalant and nutritive allergens was found. A pattern of minor anomalies included inner epicanthic folds, hypertelorism, flat nasal bridge, globular nasal tip, coarse lips, and retrogenia as well as pes planovalgus, and a sacral dimple.

Abnormalities, Multiple↗
PubMed1989

[Carbamyl phosphate synthase deficiency: clinical symptoms, diagnosis and dietary-medicamentous treatment in the neonatal period and infancy].

Carbamyl phosphate synthetase (CPS) catalyses the synthesis of carbamyl-phosphate from ammonia and bicarbonate and is the first step in ureagenesis. The infant described in this report suffered from deficiency of this enzyme. The symptoms started on the 2nd day of life with tachycardia, apathy, irritability and metabolic alcalosis, on the 4th day coma and fits occurred due to hyperammonia (ammonia in the blood max 496 mumol/l, normally up to 150 in newborns). In hepatic tissue no activity of carbamyl phosphate synthetase could be measured (normal range 0.66-2.1 mumol/h/mg protein). Peritoneal dialysis was instituted, but the metabolic crisis could only be overcome by the following therapeutic measures: restriction of protein intake to 1.5 g/kg/d in part as a special aminoacid mixture, in part as breast milk; sufficient caloric supply (600-500 kJ/kg/d); sodium benzoate 350 mg/kg/d: arginine 2 mmol/kg/d respectively citrulline 350 mg/kg/d, and carnitine 150 mg/kg/d. By these procedures the exogenous and endogenous load of ammonia could be minimized. Electroencephalogram and mental development were normal. Acute metabolic crises with hyperammonia during catabolic states (infections) could be treated several times. At the age of 8 months, however, the patient died during such a crisis. This case shows that it is possible to achieve a normal psychomotor development in complete CPS-deficiency by adequate therapy. Catabolic states are difficult to manage.

Amino Acids↗
PubMed1988

Menkes' disease: long-term treatment with copper and D-penicillamine.

Menkes' disease is a rare X-linked recessive inherited disorder of copper metabolism characterized by neurodegeneration, peculiar hair, and early death. The symptoms can be attributed to decreased activity of copper-dependent enzymes, but treatment with copper has so far failed to influence the course of the disease. We present the case of an 8.5-year-old boy, whom we treated alternately with intramuscular copper-histidine and oral D-penicillamine and who showed an extraordinary mild form of Menkes' disease. In contrast to his untreated maternal uncle, this patient had normal growth and intellectual development, but showed marked ataxia and slight speech difficulties. We suggest that parenteral copper-histidine supplemented by oral D-penicillamine may be of benefit to early-treated patients with Menkes' disease.

Body Fluids↗
PubMed1988

[Menkes syndrome].

Explore the source record for details and available documents.

Brain Diseases, Metabolic↗
PubMed1988

[Hypoglycemias in childhood. Pathophysiologic reflections and examples of hypoglycemias in hereditary disorders of carbohydrate metabolism].

For the understanding and interpretation of hypoglycemia it is important to know the many complex endocrine and metabolic regulations in the homoeostasis of blood glucose. Glucose-absorption, distribution and availability, glycolysis, production and utilization of glycogen as well as gluconeogenesis are important steps of this homoeostasis, and hypoglycemia always reflects a disturbance in it. When blood glucose is low the availability of energy for the brain is decreased if no alternative energy sources like lactate or ketones are provided. Hypoglycemia is more often in the neonatal period than in later childhood. The causes can be divided into different groups according to pathogenetic mechanisms. Within each group again many singular defects are known. Fructose-1,6-diphosphatase deficiency, hereditary fructose intolerance, glycogenosis type I and so called "ketotic hypoglycemia" are given as examples to elucidate special clinical and biochemical aspects of inborn errors of carbohydrate metabolism.

Blood Glucose↗
PubMed1987

[BCG osteitis in Switzerland. A report of 6 cases].

BCG osteitis is a rare complication after vaccination in the newborn. On the basis of various, not yet fully known mechanisms, an increase in the number of cases is nevertheless possible. In the period 1980-1985 the authors recorded 6 instances of BCG osteitis. The clinical findings and diagnostic criteria are described. The incidence, pathogenesis and therapy of the disease are discussed.

Antitubercular Agents↗
PubMed1986

Open study of the clinical effect of suprofen drops in children.

Antipyretic effect, tolerability, and acceptance of alpha-methyl-4-(2-thienyl-carbonyl)phenylacetic acid (suprofen, Suprol) drops were tested within the scope of an open study including a total of 111 children with fever of various etiology; two investigational centers participated in this study. The initial mean rectal temperature averaged 39.3 degrees C. The dosage of suprofen drops depended upon the patient's body weight and age; the drug was administered up to q.i.d., for 4 days at the longest. Body temperature, pulse rate, and respiratory rate were recorded prior to administration and 1/2, 1, 1 1/2, 2, 3, 4, 5 and 6 h after first administration of the drug. The antipyretic effect of the treatment was appreciated good in 89% of the cases. Reduction in temperature was statistically significant at all rating times after first administration of the drops as compared with the initial values. Adverse drug experiences such as vomiting and loose stools were seen in only 5 cases. The tolerability was considered good in 96% and the acceptance in 94% of the cases.

Body Temperature↗
PubMed1985

[Rotavirus infections in childhood: studies using a molecular biology method (gene electrophoresis)].

During a 15-month period all children below 16 years admitted to the Children's Hospital in St. Gallen with acute diarrheal disease were studied for rotavirus (RV) infection. Stool samples from control patients without gastrointestinal disease were investigated for RV shedding in order to detect RV carriers or asymptomatically infected children. RV was detected by electrophoresis of RV genomic dsRNA in 154 children. 119 (58%) of 205 patients hospitalized because of diarrhea were RV associated, 25 children became symptomatically ill during their hospitalization, and in 10 (1%) of 954 control patients RV could be found. During the winter 1983/1984 two epidemic peaks of RV associated diarrhea were noted, whereas in the summer period RV related disease occurred only sporadically. The peak incidence of RV infection was in the age group between 10 and 12 months. After the 3rd year of life RV infection only rarely required hospitalization. During this study period 8 different genomic RNA patterns of RV were found. The number of patients within these 8 RV types, however, is too small to allow definite correlations between epidemiological or clinical features and selected electrophorotypes. The possibility to perform refined epidemiological and clinical analyses of RV infection by genomic dsRNA electrophoresis offers important advantages when compared to other RV detection systems. In addition, this method has proven to be fast, simple and reliable.

Adolescent↗
PubMed1983

Systemic lupus erythematosus in Staphylococcus aureus hyperimmunoglobulinaemia E syndrome.

The prevalence of autoimmune diseases, including systemic lupus erythematosus, is increased in failure of certain host defence mechanisms. Systemic lupus erythematosus, however, has not been recorded as a late complication of the Staphylococcus aureus hyperimmunoglobulinaemia E (hyper-IgE) syndrome. Such a case was investigated in a man suffering from a classic example of the syndrome. Antinuclear antibodies were analysed on a molecular basis. The emergence of immunological and clinical features of systemic lupus erythematosus in patients with defective host defence mechanisms against staphylococcal infections is unlikely to be fortuitous and may help elucidate the pathogenesis of systemic lupus erythematosus. The observations will also aid the long term management of patients with S aureus hyper-IgE syndrome.

Adult↗