Pediatric Inflammatory Myofibroblastic Tumor of Rectosigmoid Junction: A Case Report and Review of the Literature.

The occurrence of rectosigmoid junction inflammatory myofibroblastic tumor (IMT) is uncommon in children. This is a rare form of mesenchymal tumor, belonging to the category of soft tissue tumors, and can be found at any anatomical site from the central nervous system to the gastrointestinal tract. Our patient was a 10-year-old male subject complaining of lack of defecation and constipation.

CNS tumor with BCOR internal tandem duplication.

CNS tumor with BCOR internal tandem duplication is a recently proposed malignant tumor. The patient was an 18-month-old boy with torticollis and vomiting due to cerebellar hemispheric mass with extension to cerebellopontine angle and foramen magnum. Histopathologic examination of the tumor showed a moderately cellular tumor with microcystic formation, myxoid change, and atypical rosettes resembling Homer Wright rosettes.

Cytomegalovirus DNA in non-glioblastoma multiforme brain tumors of infants.

Purpose: CMV antigens have been detected in some brain tumors specially glioblastoma multiforme (GBM). As brain tumors in the first years of life are among the most aggressive neoplasms with poor prognosis, novel therapeutic options like targeted therapy against virus antigens are demanded. Infantile central nervous system tumors, other than GBM, have not been so far studied for CMV.

Lupus Erythematosus and Chronic Granulomatous Disease: Report of Four Iranian Patients with AR-CGD and One XL-CGD.

Chronic granulomatous disease (CGD) is a rare genetic disorder of neutrophil activity, resulting in increased rate of recurrent infections with catalase-positive bacteria and fungi, as well as various autoimmune diseases such as sarcoidosis, rheumatoid arthritis, and discoid and/or systemic lupus erythematosus. Few reports have reported lupus erythematosus (LE) in patients with X-linked CGD (XL-CGD) and carriers, and very few in autosomal recessive CGD (AR-CGD). Here, we present 5 patients with CGD developing LE at different ages to emphasize on the importance of appropriate follow-up and treatment in patients with CGD with clinical signs and symptoms of autoimmune diseases and even in those with negative serologic results.

Direct Immunofluorescence Results of the Skin Biopsy and Frequency of Systemic Involvement in Children with Henoch-Schonlein Purpura.

Objective: Henoch-Schonlein purpura (HSP) is a common vasculitis in children that can present with multi-organ involvement. The aim of this study is to investigate the correlation between direct immunofluorescence (DIF) results and the systemic involvements of the HSP in pediatric patients.

Material And Methods: Those HSP patients with leukocytoclastic vasculitis on their biopsies who also had documented immunoglobulin/complement deposition by DIF were included in our study.

Angiotensin-Converting Enzyme Gene Polymorphism in Children with Idiopathic Nephrotic Syndrome, Effect on Biopsy Findings.

Objective: Angiotensin converting enzyme (ACE) converts angiotensin I into angiotensin II. The ACE gene shows an I/D polymorphism, which correlates with ACE concentrations. The aim of this study is to evaluate the distribution of the ACE I/D genotype in children with idiopathic nephrotic syndrome (INS) and healthy controls and study the effect of this polymorphism on clinical and pathologic findings.

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

LPS-Responsive Beige-like Anchor (LRBA) deficiency is a disease which has recently been described in a group of patients with common variable immunodeficiency (CVID) in association with autoimmunity and/or inflammatory bowel disease (IBD)-like phenotype. We here describe a 10-year-old boy who experienced recurrent infections, mainly in the respiratory system, associated with thrombocytopenia and anemia. Immunological workup showed low numbers of B cells and low IgG, but normal IgM levels.

Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.

Background/aims: There is little data concerning the incidence of alpha-1-antitrypsin"(AAT) deficiency, the most common genetic cause of liver disease, among children with neonatal cholestasis in Iran. Thus, this study was performed to analyze AAT deficiency in this group of patients.

Materials And Methods: DNA samples from patients with neonatal cholestasis were investigated for Pi S and Pi Z alleles, using polymerase chain reaction-restriction fragment length polymorphism.

An unusual cause of protein losing enteropathy in a 2.5-year-old girl: meso-intestinal fibrosis.

Introduction Protein losing enteropathy is a symptom characterized by loss of protein in intestines resulting in low protein levels in serum and generalized edema. Several causes are reported for this condition. Hereby we report an as yet unreported cause of protein losing enteropathy that we named meso-intestinal fibrosis.

Sacrococcygeal teratoma with intradural extension: case report.

Intradural sacrococcygeal teratoma (SCT) is a rare entity that has been reported in only a few cases previously. The authors present the case of a 2-week-old, otherwise healthy neonate with a mass in the buttock. The imaging findings and the high level of serum alpha-fetoprotein were highly suggestive of SCT.

Bladder reconstruction using scaffold-less autologous smooth muscle cell sheet engineering: early histological outcomes for autoaugmentation cystoplasty.

Objective: To investigate the feasibility of a new approach for cystoplasty using autologous smooth muscle cell (SMC) sheet and scaffold-less bladder tissue engineering with the main focus on histological outcomes in a rabbit model.

Materials And Methods: In all, 24 rabbits were randomly divided into two groups. In the experimental group, SMCs were obtained from the bladder muscular layer, labelled with PKH-26, and seeded on temperature-responsive culture dishes.

Frequency of shiga toxin-producing genes of Escherichia coli isolated from diarrheic stools of Iranian children by PCR.

Objective: Shiga toxin-producing E. coli (STEC) is a pathogenic E. coli that may cause hemolytic uremic syndrome (HUS) after diarrheal disease through Shiga toxins.

A neonate with indurate dermal papules and nodules and pneumonia: a case report.

We presents an infant with several indurated plaques and nodules scattered on her body. She was brought to the hospital because of fever, runny nose and cough from one month ago. During the examination and investigation the plaques and nodules grabbed the attention of the clinicians and the skin biopsy and other lab works revealed the diagnosis of congenital leukemia.

Alpha 1 antitrypsin deficiency in infants with neonatal cholestasis.

Objective: Alpha1-antitrypsin deficiency (A1ATD) is the most important indication for liver transplantation in children. The gene frequencies vary in different ethnic groups. In the present study, we attempt to determine the frequencies of the most common defective alleles, Z and S, in Iranian children suffering from idiopathic neonatal cholestasis.

The Relation between Helicobacter pylori Infection and Acute Bacterial Diarrhea in Children.

Background. H. pylori infection leads to chronic gastritis in both children and adults.

Outcome of subsequent pregnancies in familial molar pregnancy.

Familial recurrent molar pregnancy is an exceedingly rare condition, in which complete hydatidiform moles are mostly diploid but biparental in origin and the outcome of subsequent pregnancies is likely to be a hydatidiform mole or other type of reproductive loss. We previously reported a case of familial molar pregnancy (family K) comprising five affected members (four sisters and one of their cousins) each with at least one hydatidiform mole (HM). In addition to the molar pregnancies, these patients have a total of three miscarriages and 8 normal pregnancies leading to healthy children; but the youngest member of this family has given birth to a boy with Down syndrome.

Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.

Background & Aims: Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of diseases found in children younger than 6 years of age. They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD.

Expression and prognostic significance of Oct4 and Nanog in neuroblastoma.

Neuroblastoma is the most common extracranial solid tumor of children, accounting for an estimated 15% cancer-related deaths in this period. It has been hypothesized that drug resistance of cancer stem cells may be responsible for chemotherapy failure, sustained tumor growth, and recurrence in many solid tumors. In this study, we investigated the expression of Octamer-binding transcription factor 4 (Oct4) and Nanog, two stem cell markers, in 47 neuroblastic tumors by immunohistochemistry and correlated their expression by other prognostic factors especially with NMYC amplification using both fluorescent and chromogenic in situ hybridization methods.

Variation in plasma leptin levels in young Iranian children with cystic fibrosis.

Introduction: Poor weight gain is one of the most important mortality hazards in cystic fibrosis (CF) patients. The mechanisms that may hinder body weight regulation are not completely understood. Leptin and its role in fat mass could be related to control of weight gain in CF patients.

Role of fecal calprotectin in differentiating between Hirschsprung's disease and functional constipation.

Background/aims: Calprotectin is a 36.5 kD calcium and zinc binding protein in the S100 protein family. Fecal calprotectin levels are elevated in patients with inflammatory bowel disease and some other gastrointestinal disorders such as colorectal carcinoma.

Contributory role of viral infection in congenital tumour development.

Congenital tumours are a group of distinct infrequent disorders whose exact aetiologies have not clearly been understood so far. Viral infection seems to be one of the key factors involved in the carcinogenesis of certain tumours. This study was performed to assess whether viral DNAs are present in the congenital tumours or not.

Is There any Association Between Passive Smoking and Esophagitis in Pediatrics?

Objective: Exposure to environmental tobacco smoke (ETS) is one of the major factors of predisposing children to develop several hazardous health problems. We decided to investigate the association between nicotinine, one of the nicotine metabolites and esophagitis in children with gastroesophageal reflux disease (GERD).

Methods: In a case control study 46 children suffering from esophagitis referred to endoscopy ward were recruited.

Erythropoietic protoporphyria and early onset of cholestasis.

Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity. Liver disease can occur in 1-4% of the patients with EPP, usually after at least a decade of photosensitivity.