Biomedical subjects

H Skopnik

Publications and source records attributed to H Skopnik.

50 records · Page 3Linked to original sources

PubMedDate not supplied

Transient myeloproliferative disorder with 11q23 aberration in two neonates with Down syndrome.

Infants with Down syndrome may develop a transient myeloproliferative disorder (TMD) with the features of acute leukemia but resolving in a spontaneous remission. Chromosomal aberrations in addition to trisomy 21 have only rarely been described. In many cases of infant acute leukemia band q23 of chromosome 11 is involved in nonrandom translocations, often resulting in a rearrangement of the ALL-1 (MLL, HRX, HTRX 1) gene. Generally, this translocation carries a bad prognosis. We describe two newborn girls with Down syndrome and TMD in whom the constitutional trisomy 21 was combined with an acquired abnormality of chromosome 11. During the TMD the morphological and immunologic features were consistent with those of megakaryoblastic leukemia. The chromosome 11 abnormalities were del(ll)(q23), but rearrangements of the ALL-1 gene were not found. Our patients had remissions that occurred spontaneously or after a mild chemotherapy. The important finding is that additional chromosomal changes may occur during TMD in Down syndrome. The fact that the abnormality was in region 11q23 raises the question of whether the risk for developing leukemia is increased under these conditions.

Chromosome Aberrations↗

PubMedDate not supplied

[Tongue ultrasound and pressure measurement in infantile sucking. Initial results].

The sucking procedure was examined in 10 healthy, term infants and in one newborn with disturbed sucking actions suffering from recurrent aspiration pneumonia. We applied ultrasonography of the tongue and simultaneous intraoral pressure measurements in the examinations. Observations were made with a bottle feeding system (NUK). Sonography and intraoral measurements both gave reliable informations. Parallel recordings of tongue dorsum movements by pseudo-3-dimensional imaging and simultaneously obtained pressure curves show, that increasing suction is maintained by withdrawing the tongue dorso-cranially. Computer-aided evaluation of ultrasound images and pressure data demonstrate the possibility to distinguish between coordinated and uncoordinated sucking movements. Simultaneous use of both examination techniques can be helpful in diagnosis and documentation of disturbed sucking actions.

Female↗

PubMedDate not supplied

[Increased incidence of developmental hip dysplasia in hypertrophic newborn infants].

"Lack of space" in utero is considered to be a major factor in the aetiology of the congenital dislocation of the hip. This study tries to answer the question whether hypertrophy of a newborn has to be regarded as a risk factor on the basis of the principle mentioned above. The results of postnatal clinical and sonographical examination performed on 98 large-for-gestational-age (LGA-) newborn were compared to those performed on 310 newborn children during a non selective screening program. Among the LGA-newborn pathological hip joints were found more often mainly female LGA-newborn infants were affected. It seemed that the birth weight did not correlate to the extent of the retardation of the hip joint development. It was again confirmed that the restriction to only clinical diagnostic procedures in the neonatal period is not effective in the early diagnosis of the malformation. Hypertrophy of a newborn has to be considered as a risk factor behind the development of congenital dislocation of the hip. It is recommended to examine all LGA-newborn infants post partum by clinical and most importantly also by sonographical means to recognize a retardation of hip joint development.

Birth Weight↗

PubMedDate not supplied

[Glucose homeostasis in mucoviscidosis].

In patients with cystic fibrosis (CF) of the pancreas an endocrine imbalance especially of insulin secretion due to progressive structural abnormalities of the pancreas must be expected. 30-75 percent of CF-patient exhibit impaired oral glucose tolerance tests (oGTT). Deterioration of the glucose homeostasis leads to a secondary diabetes mellitus that mimics a type II diabetes in the early stage, in the later course of disease it resembles a type I diabetes with absolute insulinopenia. In this study glucose homeostasis was investigated after an oral glucose load with 1.75 g glucose/kg bodyweight. Glucose, C-peptide and insulin were measured during 180 minutes. 32 nondiabetic CF-patients were studied. 16 patients revealed an impaired oral glucose tolerance according to the criteria of the National Diabetes Data Group. 6 patients showed a normal glucose tolerance and 10 patients with normal fasting and 120 minute glucose concentrations were hyperglycemic at midtest determinations. Impaired oGTTs were observed in malnourished CF-patients in a higher rate than in normal weight patients. A delayed and exceeded C-peptide and insulin response to the oral glucose load was determined with deteriorating glucose tolerance. Glucose values did not drop to fasting values at the 180 minute determination in cases of impaired oral glucose tolerance.

Adolescent↗

PubMedDate not supplied

[Taurine supplementation in cystic fibrosis (CF): effect on vitamin E absorption kinetics].

Oral vitamin E (Vit.E) bioavailability is reduced in CF patients especially in case of malnourishment. Both exocrine pancreatic insufficiency and an altered bile acid composition showing an elevated glycine taurine ratio of conjugated bile acids which is due to excessive loss of bile acids in the stools may contribute to this observation. Because taurine supplementation reduces the glycine/taurine ratio of bile acids in duodenal juice of CF-patients it was the objective of this study to evaluate the effect of taurine supplementation on Vit.E absorption kinetics. Oral Vit.E tolerance tests (50 mg/kg) were performed before and after 3 months of taurine supplementation (30 mg/kg/day) in 11 CF patients (ages 7 to 22 years) under fasting conditions. Bodyweight and or weight for height of all patients were below the 25th percentile. Doses of all medications except antibiotics were kept unchanged during the study. Any additional Vit.E supplementation was stopped 14 days prior to each test. Serum Vit.E levels were measured over a 24 hour period. Determination of serum Vit.E concentrations was performed with a HPLC fluorescence technique. The glycine/taurine ratio in serum served as compliance parameter and dropped in all but one patients. Baseline Vit.E concentrations and serum Vit.E/total lipids ratios in serum considered as parameters of the Vit.E status increased significantly. Both the maximal Vit.E concentrations in serum and the areas under the oral absorption curves showed a significant increase with taurine supplementation. This study shows that the Vit.E status of malnourished CF patients can be improved with taurine supplementation due to improved Vit.E absorption kinetics.(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Oral↗

PubMedDate not supplied

[Tuberculosis and cystic fibrosis].

Mycobacterial infections are rarely reported in Cystic Fibrosis patients although they quite often develop predisposing risk factors such as underweight, secondary diabetes mellitus and chronic inflammatory pulmonary disease. Furthermore glucocorticoid therapy is mandatory in some patients. CF heterozygotes are said to have a selective advantage due to an increased host resistance against Mycobacterium tuberculosis. In this survey 1926 CF patients were investigated for the incidence of tuberculin conversion and manifest infection with mycobacterium tuberculosis in the Federal Republic of Germany (FRG). The results do not support the hypothesis of increased host resistance nor do they show any evidence of a higher risk for tuberculosis in CF. Implications for prophylactic, diagnostic and therapeutic measures are discussed in accordance to the recent epidemiologic data of tuberculosis in the FRG.

Adolescent↗

PubMedDate not supplied

[Effect of nutritional status on absorption kinetics of vitamin E in mucoviscidosis].

Exocrine pancreatic insufficiency with varying severity must be anticipated in 85-95% of CF patients. It leads to fat maldigestion and malabsorption of the liposoluble vitamins - A, D, E, K - and fecal loss of fat. In general, supplementation with fat-soluble vitamins is recommended in CF patients. In this study an oral vitamin E tolerance test (100 mg/kg bodyweight) was performed in 5 healthy adult volunteers to elaborate a vitamin E absorption kinetics and additionally in CF patients on medication with pancreatic enzymes to evaluate the absorption of vitamin E. 19 CF patients (ages 4 to 19 years) were studied after cessation of any additional vitamin E supplementation for 7 days. Vitamin E serum concentrations were sampled over a 72 hour period. Serum vitamin E determinations were performed with a HPLC-fluorescence technique. The kinetics of Vitamin E in healthy volunteers can be described with an open 2 compartment model. CF patients revealed consistently an altered kinetics of absorption of vitamin E, which was not compatible with this model. Baseline (c*) and maximal serum concentrations (cmax) of vitamin E as well as the area outer the oral absorption curve (AUC) correlated with the nutritional status expressed by bodyweight percentiles in CF patients. The results of this study show that in normal weight CF patients on pancreatic enzymes medication vitamin E depletion is unlikely.(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Oral↗

PubMedDate not supplied

[Kinetics and clinical use of the combined D-xylose and NBT-PABA test].

The oral D-xylose- and NBT-PABA-test are frequently applied as screening methods for malassimilation syndromes. After oral load time-related serum concentrations are used as reference values. In this study both substances were given simultaneously as isotonic solutions after a fasting period of 6 hours. A standard meal was offered 20 minutes later. Blood samples were taken prior to and 60, 90 and 120 minutes after administration of the test-substances. 43 pediatric patients were studied. 11 patients with cystic fibrosis, 10 patients with underlying intestinal disease such as coeliac disease and cows milk intolerance and 22 patients with other than gastrointestinal diseases were compared. In children with coeliac disease and cows milk intolerance 1-hour PABA concentrations were in the range of the control group whereas 1-hour D-xylose concentrations were lower than 15 mg/dl. In patients with cystic fibrosis the maximum concentrations of D-xylose were within the limits of normal values while 1-hour PABA concentrations were lower than 0.15 mg/dl in cases of relevant exocrine pancreatic insufficiency. The results of this study show that the combined D-xylose and NBT-PABA-test has proved its practical value in cases of suspected malassimilation and its discriminatory property between patients with relevant pancreatic insufficiency and patients with diminished intestinal absorptive capacity due to coeliac disease or cow's milk intolerance.

4-Aminobenzoic Acid↗

PubMedDate not supplied

[Manifestation of intolerance to cow's milk protein in mucoviscidosis with the symptom triad of hypoproteinemia, edema and anemia].

The symptom complex--hypoproteinemia, edema and anemia--occurs in approximately 5 percent of CF-patients during the first 6 months of life. Since milk is the only nutritional source in this age group, a hypocaloric nutrition respectively marginaly low protein intake may contribute to these symptoms in case of an exocrine pancreatic insufficiency. Even if breast milk and soy bean formulas can advance the disease it must be mentioned that relapses of the symptom triad had never occurred under pancreatic enzyme supplementation independently of the source of milk being fed. A cow's milk protein intolerance and coincidental exocrine pancreatic insufficiency lead to the symptom complex in an infant in spite of an adequate caloric and protein intake. This case revealed again that sweat electrolyte tests are unreliable during the acute period of disease, sweat tests were positive when the presenting symptoms were resolved. The case demonstrates that repeated sweat chloride tests are mandatory during an asymptomatic phase of disease besides the exclusion of a renal or cardiac origin of the symptom complex. An early postnatal diagnosis of CF and immediate initiation of pancreatic enzyme and fat soluble vitamin supplementation could prevent such courses of disease.

Anemia↗

PubMedDate not supplied

CA 19-9, CA 50 and elastase 1 as additional markers of cystic fibrosis.

Since reliable diagnosis of cystic fibrosis (CF) is still difficult, the occurrence of serum markers CA 19-9, CA 50 and elastase 1 was analysed. Serum levels of CA 19-9, CA 50, CA 125 and elastase 1 were estimated in 54 CF patients as well as in a control group of 66 children of similar age suffering from various other diseases and in 57 parents of CF patients. In 67% of CF patients CA 19-9 was higher than 37 U/ml, whereas 8% of the control group and only 2% of the parents showed an increased concentration. In the case of CA 50, 65% of the CF group, 21% of the control and none of the parents exhibited concentrations higher than 17 U/ml. In CF 22% showed decreased, 8% increased elastase 1 values. In the control group 2% had less than 80 ng/dl and 3% had higher elastase 1 levels than 400 ng/dl. In parents there were only increased levels in 4%. Accordingly CA 19-9 has been proven as a suitable marker and its sensitivity can be improved from 67% to 86% by additional testing of CA 50 and elastase 1. With regard to CA 125 in 11% of CF patients, 5% of control persons and 5% of parents CA 125 levels ranged above 35 U/ml. The determination of saliva CA 19-9 and CA 125 does not yield further information. Taking all previous findings into account elastase 1 is a better marker for acute pancreatitis than for pancreatic cancer and CF.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMedDate not supplied

[Evaluation of the delayed skin reaction in chronically ill children].

The evaluation of delayed cutaneous hypersensitivity by using a standardized test system offers an assessment of cell-mediated immunity. The number and diameter of positive responses induced by seven antigens result in a score. The study included 21 healthy children, 20 children with bacterial infections as well as 20 patients with chronic renal insufficiency. In addition, 16 children with cystic fibrosis were also studied. No differences in the skin reactions was found in children with bacterial infections, showing a score of 13 +/- 6 mm. But children with cystic fibrosis or with renal insufficiency exhibited a severe impaired cell-mediated immunity. To what extent the alteration of cell-mediated immunity affects the course of the various diseases, has to be investigated by further prospective studies.

Adolescent↗

PubMedDate not supplied

[Antacids for postoperative prevention of stress ulcer in infants: a dose finding study].

UNLABELLED: In the prophylaxis of stress ulcers with antacids in young infants there are no recommendations of dosages that consider the physiologic maturation of gastric acid secretion. During the first six month of life the amount of gastric acid secretion in relation to body weight and body surface area increases exponentially. Therefore adult dosages of antacids cannot be transferred to infants. METHODS: In a cross over study 12 infants aged between 4 and 174 days, who had been undergoing a cardiosurgical intervention with the heart lung machine, were treated during 48 hours with 2 different antacid regimens over a period of 24 hours each, monitoring the gastric pH continuously. The used antacid consisted of an aluminium-magnesium complex (Al(OH)3, 90 mg/ml and Mg(OH)2, 60 mg/ml): Regimen A: 6 x 0.5 ml per kg body weight. Regimen B: 0.25 ml per kg body weight at a gastric pH less than 3, with the pH read every 30 minutes. RESULTS: Compared to 28 applications under regimen B, 72 single doses were given under regimen A, 58 of them at a gastric pH of higher than 3. Thus, the mean administered dose was significant lower under regimen B (2.2 ml) than under regimen A (12.0 ml). Consequently, the mean level of gastric pH was higher under regimen A (median: 5.96 +/- 1.31 versus 4.94 +/- 1.16). pH-values lower than 3 were more often measured under regimen B, whereas the phases at this pH-level were longer under regimen A. CONCLUSION: The usual body weight related dosage of antacids seems to be to high for early infancy. In the face of the discrepancy of the administered antacid quantity comparing regimen A with regimen B, it seems to be reasonable for the studied age group to reduce the single antacid dose to 0.25 ml/kg body weight while adhering to a high application frequency of 6 times a day.

Antacids↗

PubMedDate not supplied

Long-term fungal cultures from sputum of patients with cystic fibrosis.

Mycological examination of sputum from 121 patients with cystic fibrosis by means of long-term cultures (4 weeks) revealed the occurrence of Candida albicans in low quantities in 70%, Aspergillus fumigatus in 30%, and Exophiala/Wangiella dermatitidis in 9% of the examined patients. A. fumigatus frequently causes the development of allergic bronchopulmonary aspergillosis in patients with cystic fibrosis. The predisposing factors for colonization with the otherwise seldom found fungus E. dermatitidis in these patients and the consequences of these findings are discussed. In conclusion, long-term fungal cultures are advocated for specimens from CF patients.

Adolescent↗

PubMedDate not supplied

[The value of adjuvant ampicillin therapy in idiopathic premature labor].

Evidence suggests that subclinical intrauterine infection may play an etiologic role in preterm labour. To test the hypothesis, that treatment with antibiotics might delay delivery, we retrospectively have investigated 104 women in idiopathic preterm labour who were given ampicillin additional to tocolysis and 90 comparable women without antibiotic treatment. There were no significant differences between the two groups in regard to prolongation of gestation, gestational age at delivery, fetal weight, fetal well-being or connatal infections. Adjuvant ampicillin treatment of women in idiopathic premature labour without other signs or indicators of subclinical intrauterine infection seems not beneficial.

Ampicillin↗