The Consequences of HLA Screening in the Prevention of Graft-Versus-Host Disease in Living Donor Liver Transplantation.

Aims: To study the effects of routine HLA screening and the policy of avoiding donor-dominant one-way HLA match to prevent graft-versus-host disease (GVHD) after living donor liver transplantation (LDLT).

Patients And Methods: The records of potential living liver donors and recipients who attended our center between 2007 and 2018 were reviewed retrospectively.

Results: Of the 149 patients who underwent LDLT and survived longer than 3 months, two developed GVHD despite our strict policy.

Evaluation of the histologic and immunohistochemical (CD34, glutamine synthetase) findings in idiopathic non-cirrhotic portal hypertension (INCPH).

Aim: Idiopathic non-cirrhotic portal hypertension (INCPH) is a vascular disorder of uncertain origin. Diagnosis can be challenging on liver biopsy. Despite diverse histomorphologic findings documented in literature, studies on the frequency of these findings are lacking.

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.

A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings.

Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic mutations in the gene. It is characterized by intrauterine growth restriction, dysmorphism, abnormal skin, cytopenia, hepatosplenomegaly, liver cirrhosis, endocrine problems, renal and cardiac abnormalities. We present two siblings of Turkish origin with early-onset form of transaldolase deficiency and hypergonadotropic hypogonadism in both sexes.

Nutritional characteristic of children with inflammatory bowel disease in the nationwide inflammatory bowel disease registry from the Mediterranean region.

Background/objectives: We analyzed the nationwide pediatric inflammatory bowel disease (PIBD) registry (1998-2016), to evaluate the nutritional status at the time of diagnosis.

Subjects/methods: Nine types of nutritional status by the combination of weight-for-length (<2 years)/body mass index (>2 years) and length/height-for-age with three categories (<-2, -2 to 2, and >2 SD) were described. Malnutrition was defined by WHO criteria.

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Background: Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.

Complementary Roles of Cadaveric and Living Donor Liver Transplantation in Acute Liver Failure.

Background: Living donor liver transplantation may complement cadaveric transplantation in acute liver failure (ALF) patients.

Methods: Between 2008 and 2017, 89 patients were treated for ALF; 15 patients (17%) recovered with intensive care treatment; 31 (35%) died without transplant. The records of the remaining 43 patients (median (range) age: 14 (1-62)) who underwent transplantation were evaluated.

Genotype correlates with the natural history of severe bile salt export pump deficiency.

Background & Aims: Mutations in ABCB11 can cause deficiency of the bile salt export pump (BSEP), leading to cholestasis and end-stage liver disease. Owing to the rarity of the disease, the associations between genotype and natural history, or outcomes following surgical biliary diversion (SBD), remain elusive. We aimed to determine these associations by assembling the largest genetically defined cohort of patients with severe BSEP deficiency to date.

The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease.

Objectives: Evidence suggests that lysosomal acid lipase deficiency (LAL-D) is often underdiagnosed because symptoms may be nonspecific. We aimed to investigate the prevalence of LAL-D in children with unexplained liver disease and to identify demographic and clinical features with a prospective, multicenter, cross-sectional study.

Methods: Patients (aged 3 months-18 years) who had unexplained transaminase elevation, unexplained hepatomegaly or hepatosplenomegaly, obesity-unrelated liver steatosis, biopsy-proven cryptogenic fibrosis and cirrhosis, or liver transplantation for cryptogenic cirrhosis were enrolled.

Autoimmunity and intestinal colonization by Candida albicans in patients with type 1 diabetes at the time of the diagnosis.

Purpose: Type 1 diabetes mellitus (T1DM) is a chronic and immune-mediated disease, which is characterized by the progressive destruction of pancreatic beta cells. T1DM precipitates in genetically susceptible individuals through environmental factors. In this study, we aimed to evaluate the impact of autoimmunity and intestinal colonization of Candida albicans on the development of T1DM.

Possible effects of neonatal vitamin B12 status on TSH-screening program: a cross-sectional study from Turkey.

Background: In this study we evaluated whether vitamin B12 deficiency affects neonatal screening (NS) for congenital hypothyroidism (CH).

Methods: A cross-sectional study conducted from 2010 to 2011. A total of 10,740 infants were born in our hospital in this period.

Seroprotection status of hepatitis B and measles vaccines in children with type 1 diabetes mellitus.

Background: Type 1 diabetes mellitus (T1DM) is speculated to have an impaired immunological response to vaccines. This paper aimed to investigate the presence of specific antibodies against hepatitis B virus (HBV) and measles in diabetic children who had been immunized according to the standard national calendar of immunization.

Methods: Two hundred and one diabetic children and 140 healthy controls were prospectively evaluated.

Evaluation of the likelihood of reflux developing in patients with recurrent upper respiratory infections, recurrent sinusitis or recurrent otitis seen in ear-nose-throat outpatient clinics.

Gastroesophageal reflux is considered a risk factor for recurrent or persistent upper and lower respiratory tract conditions including asthma, chronic cough, sinusitis, laryngitis, serous otitis and paroxysmal laryngospasm. Fifty-one subjects with recurrent (more than three) episodes of upper respiratory tract infection (URTI), serous otitis or sinusitis who had been admitted to an earnose- throat (ENT) outpatient clinic during the previous year were enrolled in the present study to evaluate the presence of laryngeal and/or esophageal reflux. The participants, who were randomly selected, were questioned about symptoms of reflux, including vomiting, abdominal pain, failure to thrive, halitosis, bitter taste in the mouth, chronic cough, heartburn, constipation and hoarseness.

Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.

Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old boy was admitted for a 4-month history of diarrhea and rectal bleeding.

Recognizing the psychosocial aspects of type 1 diabetes in adolescents.

Objective: Considering the ever increasing population of diabetic adolescents and the association of the disease with psychosocial problems throughout its course, depression and/or anxiety and social support from parents are issues of special concern in these patients. The study aimed to identify the depression and anxiety state of diabetic adolescents and its impact on the management of diabetes mellitus (DM).

Methods: 295 adolescents with type 1 DM and their parents attended our study.

High doses of methylprednisolone in the management of caustic esophageal burns.

Objective: Caustic substance ingestion in childhood is a public health issue in developing countries, and several management protocols have been proposed to prevent the resulting esophageal strictures. The role of corticosteroids in preventing corrosive-induced strictures is controversial. Our aim was to study the influence of high doses of corticosteroids in preventing esophageal strictures.

Lactoferrin levels in the gastric tissue of Helicobacter pylori-positive and -negative patients and its effect on anemia.

Aim: To determine gastric tissue lactoferrin (Lf) levels of Helicobacter pylori- (Hp-) positive and -negative patients and its effect on anemia.

Methods: Cases in which initial presentation was of abdominal pain and that were Hp-positive at endoscopy were included. Hp-positive cases and -negative controls were divided into two groups.

Subclinical hypothyroidism in in vitro fertilization babies.

Aim: Assisted reproduction technology is used widely all over the world. There is a great concern about the morbidity of in vitro fertilization (IVF) babies, but investigations are mostly related to mechanical conditions that are attributed to multiparity. This paper aimed to investigate the effect of IVF on thyroid functions in newborns.

Miliaria rubra and thrombocytosis in pseudohypoaldosteronism: case report.

Pseudohypoaldosteronism type 1 (PHA1) is a disease involving a state of renal tubular unresponsiveness to the action of aldosterone and characterized by excessive salt loss in the urine, hyperkalemia, and metabolic acidosis. In kidney, PHA1 may occur primarily by mutations in the subunits of the sodium channel or in the mineralocorticoid receptors, and secondarily by several renal disorders. Miliaria rubra and thrombocytosis are reported in a 6-month-old girl with PHA1.