Celiac Disease and Autoimmune Thyroid Disease in Children with Type 1 Diabetes Mellitus: Clinical and HLA−Genotyping Results

Objective: Increased prevalence of celiac disease (CD) and autoimmune thyroid disorders (ATD) in patients with Type 1 diabetes mellitus (T1D) has been widely reported. Such an association may lead to adverse effects on the growth, bone metabolism and fertility, and response to therapy may become difficult. The aim of this study was to evaluate the clinical findings and HLA typing results in patients with T1D associated with CD or ATD

Intractable colitis associated with chronic granulomatous disease in a young girl

Chronic granulomatous disease (CGD) is an autosomal recessive or X-linked disorder caused by NADPH oxidase deficiency leading to an impaired ability of reactive superoxide anion and metabolite formation and recurring severe bacterial and fungal infections, with a high mortality rate. Diarrhea, colitis, ileus, perirectal abscess formation and anal fissures are reported gastrointestinal findings in these patients. We report a case of intractable colitis associated with CGD in a young girl

Cytomegalovirus Infection in a Patient with Crohn’s Ileocolitis

Cytomegaloviral enterocolitis is an uncommon infection that can complicate inflammatory bowel disease. A case of a patient with a three-year history of Crohn's disease is reported. He had been in a stable condition on mesalamine 4 g/day and methylprednisolone 10 mg/day for three years until four weeks before admission. The patient was admitted with complaints of fever, abdominal pain and watery diarrhea. A diagnosis of an exacerbation of Crohn's disease was established. The radiological examination revealed narrowing of the terminal ileum. Multiple fistulas and abscess-like images were observed. The patient then underwent ileocolic resection and ileostomy. The histopathological examination revealed Crohn's ileocolitis with superimposed cytomegalovirus infection. In patients with rapidly deteriorating inflammatory bowel disease, cytomegalovirus infection should be kept in mind as one of the differential diagnoses

HLA types in Turkish children with celiac disease

The aim of this study was to assess the distribution of human leukocyte antigen (HLA) groups in Turkish children with celiac disease (CD) and to investigate the association of HLA types and clinical manifestations of CD. Seventy-five children with CD were evaluated in two groups: Group I consisted of 45 classical celiac patients (15 males, 6.7+/-3.8 years); Group II consisted of 30 atypical celiac patients (9 males, 9.3+/-4.3 years). The control group consisted of 100 healthy renal transplantation donors. HLA typing was made serologically using standard lymphocytotoxicity techniques. HLA A29, B51, CW5, DR14, DR16, and DQ1 were the most common antigens in the control group. Frequency of HLA B13, CW7, B8, DR7, DR17 and DQ2 was higher in CD patients than in the control group (

Acute tubulointerstitial nephritis: a case series and long-term renal outcomes

Acute tubulointerstitial nephritis (TIN) is a common cause of acute renal impairment, characterized by the infiltration of inflammatory cells in the interstitium of the kidney. We retrospectively reviewed the medical records of 19 acute TIN patients attended to our Pediatric Nephrology department between April 1999 and April 2014. Nineteen patients (7 boys and 12 girls) were evaluated. The median age was 14 years (range 7-19). Five were diagnosed as TIN histopathologically, fourteen patients were diagnosed as clinically. Six patients were treated with steroids, thirteen patients were treated symptomatically. All patients showed a rapid recovery at longest in one month. TIN is a common cause of acute renal impairment. Renal biopsy is recommended for persistent cases. Renal outcome is mostly good with symptomatic treatment but steroids could be preferred in severe nephritis however long-term follow up showed no differences between the treated and non-treated group

A rare cause of congenital diarrhea in a Turkish newborn: tufting enteropathy

Tufting enteropathy is an autosomal recessive congenital enteropathy presenting with early-onset severe intractable diarrhea. It presents with watery diarrhea that develops in the first days after birth and persists despite bowel rest. Growth is impaired, and most patients require total parenteral nutrition. The histological characteristic of tufting enteropathy is the presence of epithelial tufts. We hereby present a patient who was referred to our neonatal intensive care unit because of chronic diarrhea and diagnosed with tufting enteropathy according to histological examination. To the best of our knowledge, the newborn case presented here is the first one reported from Turkey. As TE is a very rare disease, it should be considered in patients with continuing diarrhea beginning in the first days of life

Transformative insights from transcriptome analysis of colorectal cancer patient tissues: identification of four key prognostic genes

Colorectal cancer (CRC) is a leading cause of cancer-related deaths worldwide, necessitating accurate and robust predictive approaches to assist oncologists with prognosis prediction and therapeutic decision-making in clinical practice. Here, we aimed to identify key genes involved in colorectal cancer pathology and develop a model for prognosis prediction and guide therapeutic decisions in CRC patients. We profiled 49 matched tumour and normal formalin-fixed paraffin-embedded (FFPE) samples using Affymetrix HGU133-X3P arrays and identified 845 differentially expressed genes (FDR ≤ 0.001, fold change ≥2), predominantly enriched in the extracellular matrix (ECM)-receptor interaction pathway. The integrative analysis of our data with publicly available mRNA and miRNA datasets, including their differentially expressed gene analyses, identified four overexpressed genes in the ECM-receptor interaction pathway as key regulators of human CRC development and progression. These four genes were independently validated for their differential expression and association with prognosis in a newly collected CRC cohort and publicly available datasets. A prognostic risk score was developed using these genes, with patient stages weighted by multivariate Cox regression coefficients to stratify patients into low-risk and high-risk groups, showing significantly poorer overall survival (OS) in the high-risk group. In conclusion, our risk assessment model exhibits strong potential for predicting poor survival and unfavorable clinicopathological features in CRC patients, offering valuable insights for personalised management strategies