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Biomedical subjects

S Koletzko

Publications and source records attributed to S Koletzko.

54 records · Page 3Linked to original sources
PubMed1994

[Recurrent D-lactic acidosis with encephalopathy in a boy with short-bowel syndrome].

For two years after surgical small-intestine duplication a 9-year-old boy with the short bowel syndrome had recurrent acidosis which caused severe failure to thrive. During the acidotic crises he had behavioural disorders, unsteady gait, indistinct speech, lid raising weakness with vision paresis and occasional somnolence. These signs disappeared after the aciduria had been treated with high doses of bicarbonate. D-lactic acidosis was finally diagnosed by simultaneously determining D-lactate (8.9 mmol/l [normal < 0.5]) and L-lactate (1.4 mmol/l [normal < 1.78]) during an episode of aciduria (pH 7.3, base excess -11.8 mmol/l). Further acidotic crises were prevented by a carbohydrate-modified diet, on which he gained 8 kg in one year.

Acidosis, Lactic↗
PubMed1993

Is histological diagnosis of neuronal intestinal dysplasia related to clinical and manometric findings in constipated children? Results of a pilot study.

Neuronal intestinal dysplasia (NID) of the colon has been reported in adults and children with chronic constipation. However, it is unknown whether these histological abnormalities are related to the severity of symptomatology or the findings of anorectal manometry. We studied 57 children (2 weeks to 17 years old, 33 boys) who had chronic constipation and/or soiling or obstructive symptoms early in life and evaluated anamnestic data, symptoms, outcome after 6 months of conventional therapy, rectal biopsies for signs of dysganglionosis, and results of anorectal manometry. In cooperative patients, defectaion dynamics were recorded during manometry with simultaneous surface electromyogram of the external anal sphincter. In 30 older patients, severity of constipation was assessed by measurement of colonic transit time with radiopaque markers. Histology confirmed Hirschsprung's disease in nine (excluded from further analysis), hyperganglionosis of the plexus submucosus (classic NID) in six, heterotopic ganglion cells without hyperganglionosis (abortive NID) in 18, and no signs of dysganglionosis in 24 patients. The rectoanal inhibitory reflex was more often absent or abnormal in children with classic NID (six of six) and abortive NID (11 of 17) compared with children with normal histology (four of 22) (p < 0.001). All other manometric parameters analyzed, colonic transit times, and clinical outcomes were not related to histological diagnosis. In contrast, the severity of constipation and outcome was significantly worse in children with abnormal defecation dynamics. These results suggest that histological signs of NID in the submucous plexus are of uncertain value in assessing the clinical picture and should not influence decisions concerning further treatment, especially surgical interventions.

Adolescent↗
PubMed1993

Slow-release 5-aminosalicylic acid therapy in children with small intestinal Crohn's disease.

Pharmacologic agents effective in the treatment of Crohn's disease confined to the small intestine are limited. The therapeutic efficacy of oral mesalazine in small bowel inflammation, although theoretically promising, remains unproven. In an open-labeled initial trial, timed-release 5-aminosalicylic acid (5-ASA), administered at a daily dosage of 30.6 +/- 9.0 mg/kg (mean +/- SEM) to children with active Crohn's disease involving the small intestine, was associated with improvement on the Harvey index in six of 12 patients treated for 8.1 +/- 3.9 weeks. In a subsequent prospective, double-blind study 14 children, ages 9.3 to 16.1 years, with active Crohn's disease limited radiologically in the small intestine were randomized to receive either timed-release 5-ASA [50 mg/kg/day (maximum 3 g/day)] or placebo for 8 weeks. Following a 4-week washout period, patients crossed over to receive the other study drug for a further 8 weeks. Six children completed the entire 20-week trial. The van Hees index improved among patients receiving 5-ASA for 8 weeks (delta = -18 +/- 6.4) but deteriorated among patients given placebo (delta = +14 +/- 4.1) (p < 0.05). Mean Crohn's Disease Activity Index (CDAI) decreased marginally after 8 weeks of 5-ASA treatment (delta = -48 +/- 38.2) but not with placebo (delta = -3.0 +/- 7.9) (p = 0.31). Of the eight noncompleters, more patients dropped out of the study because of lack of therapeutic response to placebo (n = 5) than to 5-ASA (n = 2).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1993

[Constipation in childhood--from the pediatric viewpoint].

Chronic constipation is a common problem in paediatric practice. The majority of the toddlers can be successfully treated by conventional therapy. Young infants with constipation or older children with longstanding stool impaction with or without encopresis should be referred to a centre for further diagnostic and therapeutic management. Children with a paradoxical contraction of the external anal sphincter during attempted defecation on anorectal manometry profit form bio-feedback-training by learning a normal defecation pattern.

Biofeedback, Psychology↗
PubMed1992

Development of height and weight in children with diabetes mellitus: report on two prospective multicentre studies, one cross-sectional, one longitudinal.

Optimal regimen for insulin therapy should lead to normal longitudinal growth and weight gain in children with diabetes mellitus. However, reports published so far indicate that this goal of paediatric diabetology is currently not achieved in a considerable number of patients. In a cross-sectional sample of 89 children with insulin dependent diabetes mellitus (IDDM) for more than 3 years, we found the relation of height to weight to be significantly different compared to 102 healthy school children of similar age. Using bivariate analysis, body shape in these children with diabetes was shifted towards small and obese (P less than 0.05) compared to control children. We subsequently initiated a longitudinal study and followed children from the onset of diabetes for the following 3 years, recording height, weight and bone age as well as glycosylated haemoglobin and daily insulin requirement. At diagnosis, height SDS was identical in children with IDDM (+0.04 +/- 0.10) compared to control children (-0.07 +/- 0.10; M +/- SE), while weight SDS was -0.26 +/- 0.10 in children with diabetes (controls: + 0.01 +/- 0.01). Bone age was identically retarded in newly diagnosed IDDM children (-0.73 +/- 0.12 SDS) and in our control group of children from the same regional background (-0.50 +/- 0.12; n.s.). In this group of children with diabetes mellitus followed prospectively, height to weight relationship differed from controls after 2 and after 3 years of the disease (P less than 0.05).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1991

Expansion of a maternally derived monoclonal T cell population with CD3+/CD8+/T cell receptor-gamma/delta+ phenotype in a child with severe combined immunodeficiency.

The diagnosis of severe combined immunodeficiency complicated by chronic graft-vs-host disease affecting liver and skin in association with engraftment of maternal T cells was established in a 5-mo-old boy. Detailed immunologic and molecular genetic studies were performed because a unique T cell phenotype was identified on initial evaluation. A major proportion of the patient's peripheral T cells expressed a CD8+ and TCR-gamma/delta+ phenotype while CD4+ T cells were virtually absent. Southern blot analysis of cell subpopulations isolated by fluorescence activated cell sorting indicated that approximately 50% of CD8+/TCR-gamma/delta+ cells were clonally related. Immunophenotyping and -genotyping also identified a clonal TCR-gamma/delta+ cell population in the child's mother. Clonal identity of these T cell populations in mother and child was demonstrated by studies using a clonspecific TCR-delta probe generated by polymerase chain reaction as well DNA sequence analysis. HLA typing and DNA fingerprinting confirmed that the child had acquired this clone diaplacentally from the mother. According to immunohistology and DNA analysis the clone was found to be virtually absent in the liver tissue suggesting that this clonal T cell population plays a minor role, if any, in the pathogenesis of the liver abnormalities in the patient. In the mother the CD8+/TCR-gamma/delta+ clone spontaneously declined to a level around 1% of PBMC several months later and has remained at this level since. We conclude that 1) a clonal expansion of TCR-gamma/delta T cells, triggered by yet unknown stimuli, may occur in otherwise healthy individuals, 2) respective T cells are able to cross the placental barrier, and 3) in an microenvironment precluding rejection, i.e., in severely immunocompromised patients, these cells may persist and even represent a significant proportion of circulating T cells.

Alleles↗
PubMed1991

Spontaneous variation of anal "resting" pressure in healthy humans.

To investigate anal sphincter performance during sleep and after a meal, a two-channel micro-transducer probe was used for 12-h stationary recording of basal anal pressure overnight in eight healthy male volunteers. It was shown that the basal anal pressure ("resting" pressure) exhibits three distinct patterns of cyclic activity changes in all subjects: a long-term rhythm with a prominent decrease of pressure during which sleep was approximately circadian, an ultradian rhythm of approximately 20 to 40 min in length that was more prominent at night, and spontaneous relaxations of the sphincter tone occurring between 3 and 20 times per hour with the maximum frequency after breakfast. These data indicate that the anal sphincter is a dynamic structure not often at rest. Long-term anorectal manometry may be supplementary to short-term clinical evaluation of anal sphincter performance in healthy subjects as well as in patients with defecation disorders.

Activity Cycles↗
PubMed1990

Effects of cisapride in patients with cystic fibrosis and distal intestinal obstruction syndrome.

In a double-blind, placebo-controlled, crossover trial, we investigated the effects of the prokinetic drug cisapride in patients with cystic fibrosis and chronic recurrent distal intestinal obstruction syndrome (DIOS). After a baseline period, 17 patients (12.9 to 34.9 years; 12 boys) received, in random order, cisapride (7.5 to 10 mg) and placebo three times daily by mouth, each for 6 months. Gastrointestinal symptoms (flatulence, abdominal pain, fullness, abdominal distension, nausea, anorexia, heartburn, diarrhea, vomiting and regurgitation) were scored three times monthly and physical examinations assessed. At baseline and at each 6-month period, assessment included food intake for 7 days, 3-day stool collection, pulmonary function tests, and abdominal radiographs. During cisapride therapy compared with placebo, there were significant reductions in flatulence (p less than 0.005), fullness, and nausea (p less than 0.05). Patients with the worst symptom scores benefited most from cisapride. With cisapride, 12 patients felt better and three worse (p less than 0.05); physicians judged 11 patients improved and two worse (p less than 0.05). No side effects were noted. There were no significant differences between cisapride and placebo periods in nutritional status, x-ray scores, pulmonary function, food intake (fat, protein, calories), stool size and consistency, and fecal losses of fat, bile acids, chymotrypsin, and calories. For acute episodes of DIOS, intestinal lavage was needed 6 times in 4 patients during treatment with cisapride, and 11 times in 6 patients receiving placebo. In comparison with unselected patients with cystic fibrosis and pancreatic insufficiency who were receiving enzyme supplements and who had no distal intestinal obstruction, fecal fat losses (percentage of intake) were almost twice as high in the study group with DIOS (31.2 +/- 20.6% vs 16.2 +/- 17.6%; p less than 0.01). We conclude that in the dosage used, long-term treatment with cisapride appears to improve chronic abdominal symptoms in patients with cystic fibrosis and DIOS, but fails to abolish the need for intestinal lavage. Cisapride treatment had no effect on digestion and nutritional status of cystic fibrosis patients with pancreatic insufficiency.

Adolescent↗
PubMed1989

Lavage treatment of distal intestinal obstruction syndrome in children with cystic fibrosis.

The efficacy, adverse reactions, and long-term effects of intestinal lavage treatment with a balanced electrolyte solution (Golytely) was evaluated in patients with cystic fibrosis and distal intestinal obstruction syndrome. Twenty-two patients with cystic fibrosis (mean age 21.8 years, range 14 to 34 years, 15 boys or men) who sought medical attention because of abdominal pain and a mass in the right iliac fossa received Golytely, 5.6 +/- 1.9 L (mean +/- 1 SD), either orally (n = 14) or via nasogastric tube (n = 8) during 5.6 +/- 2.4 hours. No serious side effects occurred. Serum electrolyte values remained within normal limits. Body weight did not change significantly. Minor adverse reactions included bloating (n = 12), nausea (n = 8), vomiting (n = 1), and chills (n = 3). All but one patient reported impressive relief of symptoms and remained pain free for an average of 3 months (range 1 to 19 months). Symptoms of abdominal pain and radiologic signs of fecal impaction assessed before and after lavage both decreased significantly (P less than .0001). During follow-up (mean 15.2 months, range 4 to 26 months), 11 patients required a total of 38 (range one to nine) additional doses of Golytely. Seven patients drank the solution at home (21 treatments); only two patients chose a nasogastric tube. In ten patients with symptoms of recurrent distal intestinal obstruction syndrome prior to institution of therapy, duration of hospitalization was significantly reduced by this treatment (5.1 +/- 7.6 v 2.3 +/- 6.3 hospital days per annum, P less than .02).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

Prevalence of coeliac disease in diabetic children and adolescents. A multicentre study.

Screening for coeliac disease (CD) with serum antigliadin antibodies (AGA) was performed in 1032 diabetic children and adolescents. In 8 children CD had been diagnosed before study entry. Of the remaining 1024 children, 33 had an elevated AGA titre in the first serum sample. On follow-up an elevated AGA titre was confirmed in only 17 of 31 patients. Nine of the repeatedly positive patients underwent jejunal biopsy, and CD was diagnosed in two asymptomatic patients; both were positive for IgG- and IgA-AGA. Among 10 AGA-positive patients in whom biopsies could not be performed, only 1 showed IgA-AGA and thus carried a high risk for CD. From our results we estimate a prevalence of CD in Swiss and German diabetic children between 1.1% and 1.3%. False-positive AGA titres occurred significantly more often in patients with diabetes duration of less than 1 year. AGA testing reached a specificity of 99% if performed at least 1 year after the onset of diabetes. Children suffering from both diabetes and CD showed a diabetes manifestation at a significantly younger age than non-coeliac patients, whereas CD tended to be diagnosed at a remarkably late age.

Adolescent↗
PubMed1987

Ataxia-deafness-retardation syndrome in three sisters.

Three sisters aged 16, 12 and 8 years from a consanguineous family presented with a progressive spinocerebellar ataxia combined with moderate mental retardation, progressive sensorineural hearing loss and signs of both upper and lower motor neuron disease. The patients represent the only known cases of the ataxia-deafness-retardation syndrome (McKusick #20885) except for the three brothers in the original description by Berman et al (1973). In the family described here transmission of the disease appears to be linked with occurrence of red hair colour.

Adolescent↗
PubMed1984

[Independence of retinopathy and optic atrophy in the DIDMOAD syndrome].

A brother and a sister with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness, etc.) are described. The 15-year-old girl was suffering from severe optic atrophy, severe sensorineural hearing loss but only slight diabetic retinopathy. The 16-year-old boy presented with symptoms which were the opposite: slight optic atrophy, slight sensorineural hearing loss but severe diabetic retinopathy. These complementary impairments of neuronal and (diabetic) retinal function suggest that optic atrophy and retinopathy develop independently in DIDMOAD syndrome.

Adolescent↗
PubMed1984

[Scintigraphic diagnosis of multiple pheochromocytomas in childhood with 131I-m-benzylguanidine].

Scintigraphy with 131I-m-BG was used in 4 children with a history of multiple pheochromocytomas in order to localize further catecholamine-producing tumors prior to surgery. We overlook 7 scintigraphies without any side effect. Phenoxybenzamine did not interfere with tracer uptake into tumors. Scintigraphic localization of even smallest extra-adrenal tumors was successful in all cases. In most cases we were dealing with benign pheochromocytomas, but also a ganglioneuroma and metastases of a malignant pheochromocytoma could be revealed. Scintigraphy is a reliable technique for tracing pheochromocytomas and catecholamine-producing ganglioneuromas. It seems to be superior to other non-invasive techniques, furthermore, invasive techniques bearing higher risks may be suspended.

3-Iodobenzylguanidine↗