US Time-Harmonic Elastography: Detection of Liver Fibrosis in Adolescents with Extreme Obesity with Nonalcoholic Fatty Liver Disease.

Purpose To measure in vivo liver stiffness by using US time-harmonic elastography in a cohort of pediatric patients who were overweight to extremely obese with nonalcoholic fatty liver disease (NAFLD) and to evaluate the diagnostic value of time-harmonic elastography for differentiating stages of fibrosis associated with progressive disease. Materials and Methods In this prospective study, 67 consecutive adolescents (age range, 10-17 years; mean body mass index, 34.7 kg/m; range, 21.

CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

Objective: In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes.

Design: 660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) by melting curve analysis.

[Hypertrophic pulmonary osteoarthropathy as a cue for NSCLC: four cases in the light of the current literature].

Hypertrophic pulmonary osteoarthropathy (often referred to as Marie-Bamberger syndrome) occurs in 1 - 5 % of all patients with non-small cell lung cancer (NSCLC) as a paraneoplastic syndrome. The complete syndrome is characterised by clubbing of the fingers and toes (often without hypoxia) and pain in the joints and tubular bones. On the basis of four clinical cases, this article shows that this syndrome can precede tumour-specific symptoms and that it is still often overlooked by physicians.

Continuous veno-venous single-pass albumin hemodiafiltration in children with acute liver failure.

Objective: To investigate the applicability, efficacy, and safety of single-pass albumin dialysis in children.

Design: Retrospective data review of uncontrolled clinical data.

Setting: University-based pediatric intensive care unit collaborating with a local center for liver transplantation.

Pulmonary hypertension in a case of Hb-Mainz hemolytic anemia.

The development of pulmonary arterial hypertension (PAH) is the leading cause of mortality in patients with thalassemia and sickle cell anemia and was reported to occur in hemolytic anemias such as hereditary stomatocytosis, and paroxysmal nocturnal hemoglobinuria. Here, we report for the first time on the development of PAH in a patient with Hb-Mainz hemolytic anemia. Hb-Mainz is an unstable hemoglobin variant resulting from mutations at codon 98 of the beta chain gene (Val>Glu) characterized by severe chronic hemolytic anemia.

A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.

Chronic pancreatitis is a common inflammatory disease of the pancreas. Mutations in the genes encoding cationic trypsinogen (PRSS1) and the pancreatic secretory trypsin inhibitor (SPINK1) are associated with chronic pancreatitis. Because increased proteolytic activity owing to mutated PRSS1 enhances the risk for chronic pancreatitis, mutations in the gene encoding anionic trypsinogen (PRSS2) may also predispose to disease.

DLG5 variants in inflammatory bowel disease.

Objectives: Genetic variants within DLG5 were recently reported to be associated with inflammatory bowel disease (IBD). The aim of our study was to test for allelic and haplotype associations of six DLG5 variants in 668 IBD patients from two European populations. Furthermore, we evaluated whether DLG5 variants alter gastrointestinal permeability in Crohn's disease (CD).

Polymorphisms of UDP-glucuronosyltransferase 1A7 are not involved in pancreatic diseases.

Background: Xenobiotic mediated cellular injury is thought to play a major role in the pathogenesis of pancreatic diseases. Genetic variations that reduce the expression or activity of detoxifying phase II biotransformation enzymes such as the UDP-glucuronosyltransferases might be important in this respect. Recently, a UGT1A7 low detoxification activity allele, UGT1A7*3, has been linked to pancreatic cancer and alcoholic chronic pancreatitis.

Implant removal for late-developing infection after instrumented posterior spinal fusion for scoliosis: reinstrumentation reduces loss of correction. A retrospective analysis of 45 cases.

A retrospective follow-up study of patients who, having undergone instrumented posterior spinal fusion for scoliosis, experienced late infection and then underwent either implant removal alone or implant removal and instrumented refusion. We conducted this study to determine whether it is possible to avoid loss of correction by a single-stage implant removal and reinstrumentation procedure. There have been a few reports of late-appearing infections after spinal instrumentation.

[The VIP-secreting tumor as a differential diagnosis of protracted diarrhea in pediatrics].

Background: Vasoactive intestinal peptide (VIP) can be produced by mature neurogenic tumors. Pathologically elevated VIP plasma levels cause secretory diarrhea with excessive loss of water and electrolytes. Despite the clinical severity diagnosis of a VIP-secreting tumor is often delayed and subsequently its extirpation as the mainstay of therapy.

Complex vascular reconstructions in living donor liver transplantation.

We describe here the indications for and our experience with complex vascular reconstructions in living donor liver transplantation. From December 1999 to June 2002, 59 patients underwent liver transplantation, 51 receiving the right lobe, and 8 the left lateral lobe, as a graft from a living donor. The indication for interpositional grafts on the arterial side (6/59, 10%) were stenoses of the celiac trunk and after resection of the hepatic artery for oncological reasons in adults.

[Sonographic detection of a "VIPoma" in a small child with intractable gastroenteritis].

As case report we describe a rare cause of intractable "gastroenteritis" detected by ultrasonography. The 14 months-old boy was admitted to hospital because of intensive dehydration due to massive vomiting and diarrhoea. A salmonella enteritis with intractable hyponatraemia and hypokalaemia was thought to be the cause.

Alpha1-antitrypsin genotypes in patients with chronic pancreatitis.

Background: An association between alpha1-antitrypsin deficiency and chronic pancreatitis (CP) has been reported in several case reports and two systematic studies. However, conflicting results have been shown in other studies of patients with CP. All previous studies were performed by phenotyping or by measurement of serum concentrations of alpha1-antitrypsin.

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

Chronic pancreatitis (CP) is a continuing or relapsing inflammatory disease of the pancreas. In approximately one-third of all cases, no aetiological factor can be found, and these patients are classified as having idiopathic disease. Pathophysiologically, autodigestion and inflammation may be caused by either increased proteolytic activity or decreased protease inhibition.

[Sonographic course of systemic echinococcosis in a 10 year old girl (with cardiac, hepatic, renal and muscular involvement)].

Purpose: To present the predominantly ultrasonographic (initial and follow-up) imaging in a disease that is rare among the Central European paediatric population--and to evaluate the role of ultrasound for initial staging and follow-up under antihelmintic therapy.

Method: The imaging documents as well as the clinical record of a 10-year old Armenian girl with systemic hydatid disease (cystic echinococcosis) were analysed retrospectively.

Results: By means of ultrasound, the complete initial systemic spread of the disease with at least 11 cysts within the liver, 1 cyst in the left kidney, 1 peri-/2 intracardiac cysts, and 1 cyst in the dorsal musculature was detected.

A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.

Background & Aims: In pancreatitis, a key role has been attributed to the inappropriate conversion of trypsinogen to trypsin. Recently, two mutations of the cationic trypsinogen gene were found in families with hereditary pancreatitis. This study was conducted to determine the spectrum and frequency of cationic trypsinogen mutations in unrelated patients with idiopathic or hereditary chronic pancreatitis (CP).

The association between pre- and postnatal tobacco smoke exposure and allergic sensitization during early childhood. Multicentre Allergy Study Group, Germany.

Aim: of our study was to investigate the effect of pre- and postnatal passive tobacco smoke exposure on the incidence of allergic sensitization.

Patients And Methods: Specific sensitization to food, outdoor and indoor allergens was determined in 342 children at the age of 1, 2 and 3 years. Parents were asked about their smoking habit at the birth of their children, at 18 months and 3 years of age.

Effect of pre- and postnatal tobacco smoke exposure on specific sensitization to food and inhalant allergens during the first 3 years of life. Multicenter Allergy Study Group, Germany.

Background: The study aimed to assess the effect of pre- and postnatal tobacco smoke exposure on specific sensitization to food allergens and inhalant allergens during the first 3 years of life.

Methods: A total of 342 children of a prospective and observational birth cohort study on atopy (MAS) were included on the basis of a complete follow-up of specific IgE measurements at the ages of 1, 2, and 3 years with available questionnaire information about the parental smoking habit at birth, 18 months, and 3 years of age. Study children were grouped into four exposure categories representing in utero and postnatal environmental tobacco smoke (ETS) exposure, and according to the number of cigarettes smoked by the parents.

Platelet-activating factor inhibits ciliary beat frequency of human bronchial epithelial cells.

The aim of our study was to investigate the effect of platelet-activating factor on human bronchial ciliary beat frequency (CBF) ex vivo. Brush biopsies were obtained from eight children (mean age 6.6 years) who underwent bronchoscopy for clinical reasons (i.