Parenteral nutrition in patients with inborn errors of metabolism - a therapeutic problem.

BACKGROUND: Parenteral nutrition is now a standard part of supportive treatment in pediatric departments. We describe four cases in which parenteral nutrition was extremely difficult due to coincidence with inborn errors of metabolism. The first two cases was fatty acid beta-oxidation disorders associated with necrotizing enterocolitis and congenital heart disease. Thus, limitations of intravenous lipid intake made it difficult to maintain a good nutritional status. The third case was phenylketonuria associated with a facial region tumour (rhabdomyosarcoma), in which parenteral nutrition was complicated because of a high phenylalanine content in the amino acid formulas for parenteral nutrition. The fourth patient was a child with late-diagnosed tyrosinemia type 1, complicated with encephalopathy - during intensive care treatment the patient needed nutritional support, including parenteral nutrition - we observed amino acid formula problems similar to those in the phenylketonuria patient. Parenteral nutrition in children with inborn errors of metabolism is a rare, but very important therapeutic problem. Total parenteral nutrition formulas are not prepared for this group of diseases.

Organ-sparing surgery of the bilateral testicular large cell calcifying sertoli cell tumor in patient with atypical Peutz-Jeghers syndrome.

Large cell calcifying sertoli cell tumor (LCCSCT) is an exceptionally rare neoplasm originating from sperm cord cells. The tumors have relatively low malignant potential and unlikely proceed to metastasis formation. The lesions may occur in an isolated form or in ca. 40% of cases may be associated with genetic abnormalities, by and large Peutz-Jeghers syndrome and Carney complex. At presentation, 20% of LCCSCT cases are bilateral and/or multifocal. Owning to characteristic skin lesions and particular hyperechoic ultrasound image of the tumor, preliminary diagnosis of the syndromic LCCSCT is possible in the preoperative period. Consequently, testicle organ-sparing procedure can be attempted, which is especially justified in bilateral lesions. Here, we report a case of a bilateral LCCSCT in a 20-year-old man with atypical Peutz-Jeghers syndrome due to amplification of the exon 1 of STK11 gene who was successfully treated with bilateral testicle-sparing tumorectomies.

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.

BACKGROUND: Discontinuation of dietary therapy in adults with phenylketonuria can lead to neuropsychological abnormalities and emotional problems. The aim of our study was to assess the change in quality of life in adult patients returning to the diet and to define the reasons for failure in diet resumption. METHODS: Quality of life was assessed by means of the Psychological General Well-Being Index before study entry and subsequently after 3 and 9 months. Reasons for failure in diet resumption were analysed. RESULTS: 53 patients participated in the study. Initial quality of life assessment revealed severe distress in 17%, moderate distress in 28% and positive well-being in 55% of them. In the majority of patients with severe or moderate distress, improvement of subjective well-being was observed (especially in the domains of anxiety and depressiveness) if they managed to return to the diet (blood phenylalanine concentrations before study entry 0.78-1.62 mmol/L, mean 1.16 mmol/L; average blood phenylalanine concentration decrease by 0.42 mmol/L). Only 29 persons managed to maintain the diet for at least 3 months and only 10 participants finished the entire 9-month study protocol. Problems with dietary treatment while at work, the high cost of low-protein products and poor knowledge regarding proper diet were the most important factors responsible for failure in resumption of diet. CONCLUSION: Interpersonal differences exist between adult patients on relaxed diet, in some of whom quality of life often remains good, while others can suffer from severe emotional distress. Returning to diet increases quality of life in the majority of patients.

Recovery of phenol from aqueous streams in hollow fiber modules.

A setup with two parallel hollow-fiber modules was used to study the recovery of phenol from aqueous solutions. Cyanex 923, Amberlite LA-2, and trioctylamine (TOA) in aliphatic kerosene were used as carriers. A solution of 0.2 M NaOH was used for stripping. It was found that each of the studied carriers permitted the effective removal of phenol. Cyanex 923 showed the best performance, removing phenol in the shortest time and giving the highest fluxes and the highest mass-transfer coefficients. The maximum fluxes of phenol entering the receiving phase changed in the following ratio: Cyanex 923/Amberlite LA-2/TOA = 3.5/1.5/1. The mass-transfer coefficient in the extraction step changed in the same order: 34/5.2/1. The mass-transfer coefficients of the stripping step were 2-4 orders lower than in the extraction step and were comparable for each carrier: Cyanex 923/Amberlite LA-2/TOA = 1.1/0.7/1. Using Cyanex 923, only 5 min were needed to recover 99% of the pollutant from the aqueous stream, containing 0.5-2 g L(-1) phenol.

Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency.

BACKGROUND: Cystic fibrosis (CF) is the most common cause of exocrine pancreatic insufficiency in childhood. The aim of the present study is to evaluate the correlation between genotype and exocrine pancreatic insufficiency in CF patients. The special emphasis was put on the analysis of mild CFTR mutations. DESIGN: The study comprised 394 CF patients and 105 healthy subjects (HS). Elastase-1 concentrations were measured in all subjects. RESULTS: Severe pancreatic insufficiency was associated with the presence of two CFTR gene mutations (DeltaF508, N1303K, CFTR dele 2,3 (21kb), G542X, 1717-1G-A, R533X, W1282X, 621GT, 2183AAG, R560T, 2184insA and DeltaI507, G551D, 895T) and mild insufficiency with the presence of at least one mutation (R117H, 3171insC, A155P2, 138insL, 296 + 1G-A, E92GK, E217G, 2789 + 5G-A. 3849 + 1kbC-T/3849 + 1kbC-T) genotype resulted in high elastase-1-values. However, in case of patients with genotype DeltaF508/3849 + 10kbC-T, 1717-1GA/3849 + 10kbC-T as well as with DeltaF508/R334W, both high and low elastase-1 concentrations were found. Low E1 values were found in a patient with DeltaF508/R347P genotype. CONCLUSION: Patients who carry two 'severe' mutations develop pancreatic insufficiency, whereas those who carry at least one 'mild' usually remain pancreatic sufficient. However, the presence of one mild mutation does not exclude pancreatic insufficiency.

Comparison of fecal elastase-1 determination with the secretin-cholecystokinin test in patients with cystic fibrosis.

BACKGROUND: The secretin-cholecystokinin (CCK) test is the gold standard in the evaluation of exocrine pancreatic insufficiency. Because of its invasive character, it is of limited value in cystic fibrosis (CF) patients, especially in those with severe respiratory disease. The aim of the study was to evaluate the sensitivity of fecal elastase-1 in relation to the secretin-CCK test and quantitative fecal fat excretion in CF patients. METHODS: The study comprised 28 patients (11 females and 17 males) aged 4 to 20 years. In all patients the secretin-CCK test and determination of fecal elastase-1 concentration (with enzyme-linked immunosorbent assay) and fecal fat excretion were performed. RESULTS: The range of fecal elastase-1 was from undetectable to 485 microg/g (mean, 84.6+/-119.9 microg/g) and of fecal fat excretion from 1.0 to 55.1 g/day (mean, 15.0+/-12.2 g/day). On the basis of the results of the secretin-CCK test (and fecal fat analysis) exocrine pancreatic insufficiency was divided into three subgroups: mild (I), moderate (II), and severe (III). Four patients were classified in subgroup I, 4 in II and 20 in III. Fecal elastase (elastase-1) results were 332.0+/-124.9 microg/g in subgroup I, 96.9+/-45.7 microg/g in subgroup II, and 32.1+/-41.2 microg/g in subgroup III. The fecal elastase-1 sensitivity with a cut-off point of 200 microg/g was 89.3% for all patients, 100% for patients in subgroups II and III, but only 25.0% for patients in subgroup I; the specificity was 96.4%. Linear regression analysis showed a statistically significant correlation between fecal elastase (elastase-1) and duodenal volume, bicarbonate, amylase, lipase, and trypsin secretion (in all cases P < 0.001). CONCLUSIONS: Measurement of fecal elastase-1 is simple and very useful for assessing the exocrine pancreatic function in CF patients. Elastase is highly specific in severe and moderate exocrine pancreatic insufficiency, but it is rather unspecific for milder forms of pancreatic insufficiency.

Plasma concentrations of cholecystokinin and neurotensin in patients with cystic fibrosis.

BACKGROUND: Regulation of pancreatic exocrine secretion is controlled by vagovagal reflexes and hormones. A negative feedback control mechanism exists between the intraduodenal protease concentration and pancreatic enzyme secretion. In man cholecystokinin (CCK) is the major regulator of postprandial pancreatic enzyme secretion. There is a 50% reduction of meal-stimulated secretion by the specific CCK receptor antagonist loxiglumide, whereas atropine completely blocks postprandial secretion. Neurotensin is released postprandially by nerval reflexes and fat. It has been claimed that both hormones are increased in patients with pancreatic insufficiency. METHODS: We investigated CCK and neurotensin levels in patients with cystic fibrosis and pancreatic insufficiency. In 35 patients (2-24 years old) with cystic fibrosis with steatorrhea and in 15 patients (1.5-24 years old) with cystic fibrosis without pancreatic insufficiency pre- and post-prandial CCK and neurotensin plasma levels were measured 3 days after pancreatic enzyme therapy had been withdrawn. Nine patients (3-14 years old) who had no complaint of abdominal disease served as controls. RESULTS: Basal and postprandial CCK plasma levels did not differ statistically in the three groups, whereas basal and postprandial neurotensin levels were significantly increased in the cystic fibrosis groups. The severity of the disease had no effect on the neurotensin levels. CONCLUSIONS: Cystic fibrosis patients with severe pancreatic insufficiency did not have increased CCK plasma levels, suggesting that a CCK-mediated feedback mechanism of pancreatic enzyme secretion does not operate in our patients. In contrast, basal and postprandial neurotensin plasma levels were significantly increased in patients with cystic fibrosis but were independent of the severity of the pancreatic insufficiency.

Microsatellite haplotypes of Polish cystic fibrosis alleles: delta F508 chromosomes demonstrate a North-South haplotype frequency gradient.

Analysis of haplotypes of three intragenic, highly polymorphic microsatellite markers (IVS8CA, IVS17BTA, IVS17BCA) of the CFTR gene was performed on a sample of 96 CF chromosomes of Polish origin. Twenty different haplotypes were detected in delta F508 chromosomes. Of these, four haplotypes (23-31-13; 23-32-13; 17-31-13; 17-32-13) represent 67.1% of the overall pool of delta F508 chromosomes. Distribution of these haplotypes, together with frequencies of the delta F508 mutation, are intermediate between Northern- and Southern-European populations and correlate with established gradients.

[Evaluation of treatment efficacy in gastritis and duodenitis in children with Helicobacter pylori infection]. / Ocena skutecznosci Ventrisolu w leczeniu stanów zapalnych blony sluzowej zoladka i dwunastnicy u dzieci z zakazeniem Helicobacter pylori.

The efficacy of Ventrisol treatment in gastritis and duodenitis in children infected with Helicobacter pylori was evaluated. Eighty-six children aged 3 to 18 years with chronic abdominal pain were examined. All children underwent gastrofiberoscopic examination. H. pylori infection was diagnosed on the bases of two of three diagnostic tests (urease, bacteriological, histological). H. pylori was detected in 50 children (56.4%). After a 4 week course of Ventrisol treatment, H. pylori eradication was obtained in 41 children (82%). Twenty-one children (42%) were completely cured, whereas in 20 children (40%) elimination of HP was observed although macroscopic and histological inflammatory changes were still present. The drug was well tolerated by 92.5% of children and its accumulation was not observed.

[Cystic fibrosis: now and in the future]. / Mukowiscydoza--dzis i jutro.

The paper describes the genetic and pathophysiological basis of cystic fibrosis. The most frequent manifestations of the disease are listed and the currently available therapeutic options, both causal and symptomatic, are presented. Special emphasis is placed on the often underestimated nutritional management. The role of multidisciplinary teams and of the active involvement of patients and their families is stressed. The creation of a coherent cystic fibrosis health care system (both in paediatrics and internal medicine) on a regional and nation-wide scale will undoubtedly play an important role in successful treatment.

[Congenital fructose intolerance diagnosed in a 13-year-old boy]. / Wrodzona nietolerancja fruktozy rozpoznana u 13-letniego chlopca.

We describe the case of 13 year old boy who was admitted to the hospital in order to find the reason of hepatomegaly and increased echogenicity observed in sonography. The thorough anamnesis revealed aversion to products containing fructose and thus hereditary fructose intolerance appeared the most probable in this case. The preliminary diagnosis was confirmed by oral fructose tolerance test.

A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families.

Genomic DNA was isolated from dried blood specimens and subsequently used as a template in simplified PCR-based detection assays of delta F508 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of amplification of CFTR gene were analyzed in NuSieve agarose gel. The amplification-created restriction site with TaqI digestion was used for detection of the PAH gene mutation.

[Diagnosis of hemorrhage of Meckel's diverticulum using technetium scintigraphy]. / Rozpoznanie krwawienia z uchylka Meckela przy uzyciu scyntygrafii z zastosowaniem technetu.

A 5-year-old boy is described with bleeding from Meckel's diverticulum diagnosed preoperatively by technetium scintigraphy. Despite limited indications to radioisotope methods in children they are valuable diagnostic procedures in preoperative diagnosis of the presence of ectopic tissue in Meckel's diverticulum.

Serum pancreatic polypeptide and glucagon immunoreactivity in fasting healthy and diabetic children.

Serum pancreatic polypeptide (hPP) concentrations ranged in normal children from 45 pg/ml to 525 pg/ml with mean value at 185 +/- 49 pg/ml. Both hPP and glucagon immunoreactivity (IRG) levels showed age-dependent decrease during childhood. In diabetic children plasma IRG concentrations were significantly increased in comparison with the healthy subjects while hPP concentrations were only slightly elevated. The age dependence of the hormones levels was completely effaced in diabetics. No significant serum hPP norm IRG values dependence on the duration of diabetes was found. IRG/hPP relations correlated with age in healthy children despite those in diabetic ones.