DGAT1 mutation is linked to a congenital diarrheal disorder.

Congenital diarrheal disorders (CDDs) are a collection of rare, heterogeneous enteropathies with early onset and often severe outcomes. Here, we report a family of Ashkenazi Jewish descent, with 2 out of 3 children affected by CDD. Both affected children presented 3 days after birth with severe, intractable diarrhea.

New insights in celiac disease.

Celiac disease (CD) is an autoimmune disorder occurring in genetically susceptible subjects. The incidence of CD is around 1%, and it is much more common in first-degree relatives of CD patients, 10%-18%. However, the pattern of the genetic inheritance is still obscure.

Prevalence of celiac disease in an adult Jewish population in Israel.

Background: In the last decade the frequency of celiac disease diagnosis has increased in adults.

Objectives: To determine disease prevalence (including silent and potential disease) in this population group.

Methods: We performed serologic screening of celiac disease in a representative and homogenous sample of a young adult general population in Israel, namely, 18 year old military conscripts, in 2003.

Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.

Three siblings with recalcitrant leg ulceration, splenomegaly, photosensitive rash, and autoantibodies were suspected of having prolidase deficiency. Urine was checked for iminodipeptiduria, fibroblasts were cultured and analyzed for prolidase activity, and DNA was extracted for identifying the causative mutation. Glycyl proline was found as the dominant dipeptide in the urine.

The fear of necrotizing enterocolitis versus achieving optimal growth in preterm infants--an opinion.

Unlabelled: Very-low-birthweight (VLBW) infants suffer marked growth delay despite well-intentioned efforts at combining enteral and parenteral nutrition. Fear of necrotizing enterocolitis (NEC) has traditionally influenced neonatologists toward delaying and progressing slowly with enteral feeding, while supporting the infant with parenteral nutrition. Current evidence suggests significant benefits of enteral feeding that is started early and advanced at rates of 20-35 ml/kg/d.

Leukocyte aggregation-related pseudoleukopenia in pediatrics: a sporadic event or a systematic error?

Objective: To determine whether electronic counter-related pseudoleukopenia is a rare phenomenon or a systematic underestimation in children with acute infection/inflammation.

Methods: We have used a simple slide test and image analysis to reveal the number of white blood cells and their degree of aggregation. The number of leukocytes counted by an electronic cell analyzer was divided by the number of cells counted on the slides creating an electronic cell-to-slide leukocyte count ratio.

Automatic 3-dimensional visualization of peripheral blood slides: a new approach for the detection of infection/inflammation at the point of care.

Context: The identification and quantitation of the intensity of the acute-phase response at the point of care might be of clinical relevance.

Objective: To report the possibility of automatic screening of unstained peripheral blood slides by using a 3-dimensional image analysis system.

Design: Peripheral venous blood was obtained from children with acute inflammation/infection and examined by an automatic 3-dimensional image analyzer to detect the number of white blood cells as well as to reveal the degree of erythrocyte aggregation, a marker of the humoral phase response.

Sludge ball, pseudolithiasis, cholelithiasis and choledocholithiasis from intrauterine life to 2 years: a 13-year follow-up.

Objective: Evaluation and follow-up of infants with cholelithiasis and pseudolithiasis in a pediatric ward.

Patients & Methods: Prospective study from April 1990 to October 2003 identified hospitalized infants younger than 2 years with ultrasonographic findings of cholelithiasis, choledocholithiasis or pseudolithiasis. Associated abnormalities or contributory factors were recorded and patients were followed for from 6 months to 13 years (mean, 4 years).

Inhibition of IL-1beta and TNF-alpha secretion from resting and activated human immunocytes by the homeopathic medication Traumeel S.

Traumeel S (Traumeel), a mixture of highly diluted (10(-1)-10(-9)) extracts from medicinal plants and minerals is widely used in humans to relieve trauma, inflammation and degenerative processes. However, little is known about its possible effects on the behavior of immune cells. The effects of Traumeel were examined in vitro on the ability of resting and PHA-, PMA- or TNF-alpha-activated human T cells, monocytes, and gut epithelial cells to secrete the prototypic pro-inflammatory mediators IL-1beta, TNF-alpha and IL-8 over a period of 24-72 h.

[Changing the therapeutic approach to acute otitis media in children].

Acute Otitis Media (AOM) is the most common reason for pediatrician's visits and for antibiotic prescription in childhood. A significant rise in bacterial resistance to antibiotic treatment has been detected in recent years. Accordingly, the attitude towards antibiotic treatment for AOM has been re-evaluated.

Attitude of medical students to the introduction of complementary medicine into the medical curriculum in Israel.

Background: Complementary medicine is gaining in public popularity, yet medical school curricula usually ignore it.

Objectives: To determine whether senior medical students are interested in learning principles of complementary or alternative medicine, to check their degree of familiarity with it, and to suggest a format for such studies in the medical curriculum.

Methods: Senior medical students (n = 117) were surveyed by an anonymous questionnaire.

Reduced acute phase response to differentiate between viral and bacterial infections in children.

The objective of this study was to document the reduced acute phase response that appears in children with viral as opposed to bacterial infections. The white blood cell count (WBCC), the erythrocyte sedimentation rate (ESR), and leukocyte and erythrocyte adhesiveness/aggregation were determined in 36 children with acute bacterial infection, 29 children with viral infection, and 19 controls. A significant reduced WBCC, ESR, and leukocyte and erythrocyte adhesiveness/aggregation was noted in the children with acute viral infection as opposed to those with bacterial infection: 10,800 +/- 3600 and 20,000 +/- 10,000 cells/cm2, 29 +/- 21 and 53 +/- 35 mm Hg, 23 +/- 9 and 41 +/- 15%, and 3.

Helicobacter pylori genotypes in Israeli children: the significance of geography.

Background: There is substantial genetic variation among different isolates of Helicobacter pylori, which may affect the clinical outcome. The aims of this study were to find the common H. pylori genotypes in Israeli children and to look for a possible genotype-phenotype correlation.

Evaluation of oral budesonide for treatment of mild and moderate exacerbations of Crohn's disease in children.

Objectives: Oral budesonide has been found to be efficacious for mild to moderate Crohn's disease in adults, with equal improvement rates for budesonide and prednisone. We report the results of a retrospective study of budesonide treatment in mild to moderate Crohn's disease in children.

Study Design: Charts of patients treated with budesonide (n = 62) with a pediatric Crohn's Disease Activity Index of 12.