A Pilot Study to Reduce Central Line-Associated Bloodstream Infections in Children From Extremely Low-Income Settings With Intestinal Failure-Meeting the Challenge.

Background: Central line-associated bloodstream infections (CLABSIs) are major sources of morbidity, death, and healthcare costs in patients who receive home parenteral nutrition (HPN). The majority of HPN-dependent children in southern Israel reside in poor communities with substandard living conditions, which creates significant challenges for the safe provision of HPN. We developed a pilot intervention that aimed to reduce the rates of CLABSI and central venous catheter (CVC) replacements in this vulnerable population in our region.

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

The epithelial cell adhesion molecule gene (EPCAM, previously known as TACSTD1 or TROP1) encodes a membrane-bound protein that is localized to the basolateral membrane of epithelial cells and is overexpressed in some tumors. Biallelic mutations in EPCAM cause congenital tufting enteropathy (CTE), which is a rare chronic diarrheal disorder presenting in infancy. Monoallelic deletions of the 3' end of EPCAM that silence the downstream gene, MSH2, cause a form of Lynch syndrome, which is a cancer predisposition syndrome associated with loss of DNA mismatch repair.

Seasonality of birth affects paediatric coeliac disease.

Aim: This study investigated the seasonality of birth in children diagnosed with coeliac disease (CD) at a tertiary University hospital in Southern Israel.

Methods: This was a population-based retrospective time series analysis study from January 1988 to December 2014. There were 308 903 live births at Soroka University Medical Centre during the study period and 699 were diagnosed with CD.

Mycophenolate Mofetil Alone and in Combination with Tacrolimus Inhibits the Proliferation of HT-29 Human Colonic Adenocarcinoma Cell Line and Might Interfere with Colonic Tumorigenesis.

Background/aim: Familial adenomatous polyposis (FAP) was found to be completely reversed in a patient treated with mycophenolate mofetil (MMF) and tacrolimus following kidney transplantation. In this preliminary study, we assessed whether MMF and tacrolimus alone or in combination interfere with the cell cycle and proliferation in a human colonic adenocarcinoma cell line and in the colonic polyps of the patient with FAP.

Materials And Methods: Human colonic adenocarcinoma HT-29 cells were treated with tacrolimus and MMF alone and in combination at different concentrations.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Background: Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined.

Objective: This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors.

Complete Reversion of Familial Adenomatous Polyposis Phenotype Associated with Tacrolimus and Mycophenolate Mofetil Treatment Following Kidney Transplantation.

Numerous germline mutations in the adenomatous polyposis coli (APC) tumor-suppressor gene are responsible for development of multiple adenomatous colorectal polyps with their inevitable progression to cancer. Multiple attempts at dietary and pharmacological prevention of colorectal carcinoma development in patients with familial adenomatous polyposis (FAP) have provided conflicting results. Immunosuppressive treatment with tacrolimus is known to be associated with an increased risk of malignancy and should be avoided in patients with high propensity for development of neoplasia.

Management of Ingested Hijab-Pin.

Background And Study Aims: Accidental swallowing of hijab (or turban) pin was reported mainly among adolescent girls. Current guidelines indicate emergent intervention endoscopy in case a long sharp object is found in the gastrointestinal tract. The aims of the current study are to present the results of an observational approach and to assess the need for intervention.

Incidence of typically Severe Primary Immunodeficiency Diseases in Consanguineous and Non-consanguineous Populations.

Purpose: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations.

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included.

Subclinical intestinal inflammation in chronic granulomatous disease patients.

Chronic granulomatous disease is a primary immunodeficiency caused by impaired neutrophil production of reactive oxygen species. Non-infectious colitis is common in chronic granulomatous disease, and high levels of antimicrobial antibodies that are associated with Crohn's disease are common even without colitis. Fecal calprotectin concentration is a marker for intestinal inflammation.

Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.

Congenital dyserythropoietic anemias (CDA) represent a heterogeneous group of disorders characterized by morphological abnormalities of erythroid precursor cells and various degrees of hemolysis. Iron overload is a result of continuous hemolysis and recurrent transfusions. It is treated with iron chelators, including deferasirox.

Variation of muscular structure in congenital insensitivity to pain and anhidrosis.

Congenital insensitivity to pain with anhidrosis is a rare disease affecting the nervous system. The patients present with unexplained fever from poor thermoregulation and inability to sweat. Because of the indifference to pain, they manifest frequent traumatic and infectious injuries.

Abnormal neutrophil chemotactic activity in children with congenital insensitivity to pain with anhidrosis (CIPA): the role of nerve growth factor.

A 1926-ins-T mutation in the TrkA gene encoding the tyrosine kinase receptor for nerve growth factor (NGF) was previously documented in patients with congenital insensitivity to pain with anhidrosis (CIPA). These patients suffer from skin lacerations which often evolve into deep tissue infections. Abnormality in neutrophil functions may explain this high rate of severe infections.

Efficacy and safety of intravenous iron sucrose therapy in a group of children with iron deficiency anemia.

Background: Iron deficiency is the most common single cause of anemia worldwide. Treatment consists of improved nutrition along with oral, intramuscular or intravenous iron administration.

Objectives: To describe the efficacy and adverse effects of intravenous iron sucrose therapy in a group of children with iron deficiency anemia who did not respond to oral iron therapy.

Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis.

Nerve growth factor (NGF) and its receptor tyrosine kinase A (TrkA) participate in endocrine pancreas morphogenesis and insulin secretion in vitro. Mutations in the TrkA gene cause the syndrome of congenital insensitivity to pain with anhydrosis (CIPA). We hypothesized that CIPA may represent a natural model for impaired NGF effect on insulin secretion in humans.

[Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis].

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease, which is characterized by recurrent episodes of fever, anhidrosis, self mutilation, absence of reaction to noxious stimuli, prolonged healing times and mental retardation. The absence of pain sensation combined with mental retardation predisposes the children to recurrent wound infections and deep ulcers that heal at a slower pace than seen in healthy people. The anomalous pain is due to the absence of dorsal root ganglia that are responsible for pain sensation and absence of afferent neurons activated by tissue damaging stimuli.

Nerve growth factor-tyrosine kinase A pathway is involved in thermoregulation and adaptation to stress: studies on patients with hereditary sensory and autonomic neuropathy type IV.

Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is caused by mutations in the tyrosin kinase A (TrkA) gene, encoding for the high-affinity receptor of nerve growth factor (NGF). The NGF-TrkA system is expressed in many endocrine glands. We hypothesized that HSAN IV represents a natural model for impaired NGF effect on the neuroendocrine system in humans.

Orofacial manifestations of congenital insensitivity to pain with anhidrosis: a report of 24 cases.

Purpose: To report the incidence and severity of the oral and dental manifestations associated with congenital insensitivity to pain with anhidrosis (CIPA).

Methods: Young children with CIPA underwent orofacial examination. The tongue, lips, and buccal mucosa were examined for soft tissue disorder.