ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.

Wilson's disease (WD) is a copper metabolism disorder caused by gene mutations and shows an autosomal recessive pattern of inheritance. We aimed to contribute to the mutation profile of and show demographic and phenotypic differences in this study. The clinical and demographic characteristics of patients who underwent gene sequence analysis using next-generation sequencing were evaluated to improve genotype-phenotype correlation in WD.

Turkish Translation, Validation, and Reliability Analysis of Pediatric Eosinophilic Esophagitis Symptom Severity Module Version 2.0.

Unlabelled: The Paediatric Eosinophilic Esophagitis Symptom Severity Modules Version 2.0 (T-PEESv2.0) was developed in English as a valid, reliable questionnaire for follow up.

Prognostic value of Prognostic Nutritional Index (PNI) for 5-year recurrence-free survival in surgically resected gastrointestinal stromal tumors.

Background: Recent studies have investigated the role of neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), systemic inflammation index (SII), and prognostic nutritional index (PNI) on prognosis for various malignancies. However, the value of these markers in determining the prognosis for gastrointestinal stromal tumors (GIST) remains controversial. We investigated the effect of NLR, PLR, SII, and PNI on 5-year recurrence-free survival (RFS) in patients with surgically resected GIST.

Does Liver Transplant Improve Neurological Symptoms in Wilson Disease? Report of 24 Cases.

Objectives: Wilson disease is an inherited disorder that results in copper accumulation in the tissues with liver injury and failure. Orthotopic liver transplant is one of the treatments of choice for this disease. The aim of this study was to compare the neurological symptoms, before and after orthotopic livertransplant, of patients with liver cirrhosis due to Wilson disease, who represent a special group of patients with liver failure.

Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency.

Objectives: To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a diagnostic indicator of pituitary stalk pathologies.

Methods: Clinical, radiological, and laboratory features of the 50 cases of MPHD were studied.

PD-L1 Expression in Colorectal Adenocarcinoma Is Associated With the Tumor Immune Microenvironment and Epithelial-Mesenchymal Transition.

Objectives: Colorectal carcinomas are the third-most common tumors in the world, and colorectal cancer ranks second in cancer-related deaths. Our aim in this study was to investigate the correlation between programmed cell death ligand 1 (PD-L1) expression and clinicopathologic parameters in colorectal carcinomas and their relationship to the tumor immune microenvironment, epithelial-mesenchymal transition (EMT), and microsatellite instability. We also investigated the predictive and prognostic role of PD-L1.

Should a fourth category be added to the international tumor budding consensus conference tumor budding scoring system in colorectal adenocarcinomas?

The aim of this study was to investigate the relationship between tumor budding (TB) and clinicopathologic prognostic criteria in colorectal adenocarcinomas and to discuss the inclusion of the fourth group in the scoring system. A total of 131 cases were included in the study. TB was scored according to the classical 3-tiered scoring system and our proposed 4-tiered scoring system: BD0 (no buds), BD1* (1-4 buds), BD2 (5-9 buds), and BD3 (≥10 buds).

Multichannel Intraluminal Impedance and pH Monitoring are Complementary Methods in the Diagnosis of Gastroesophageal Reflux Disease in Children.

Objective: Gastroesophageal reflux is considered to be a disease when reflux of gastric contents causes troublesome symptoms in infants and children. The aim of this study was to compare the diagnostic value of the multichannel intraluminal impedance monitoring and only pH monitoring in the diagnosis of gastroesophageal reflux disease in infants and children.

Materials And Methods: This prospective cross-sectional study consisted of pediatric patients aged between 1 month and 18 years old with symptoms suggestive of gastroesophageal reflux disease.

Should we report Breslow density, a new concept in cutaneous melanoma?

Introduction: Breslow density is a newly defined biomarker, independent of Breslow thickness. We aimed to investigate the relationship of Breslow density with other clinicopathological prognostic factors and its effect on the overall survival and disease-free survival in patients with cutaneous melanomas.

Materials & Methods: This was a single-centre retrospective study of patients (n = 19) diagnosed with cutaneous malignant melanomas in our hospital between 2011 and 2019 were included in the study.

The Assessment of the Quality of Life in Children with Chronic Liver Disease.

Background: Improvement in the quality of life (QoL) of patients with chronic diseases is as important as medical care. This study aimed to evaluate the QoL of children with chronic liver diseases and to determine related factors.

Methods: For this study, 101 children with chronic liver disease, 100 healthy controls, and their parents were included.

Relationship between daily testosterone production and bispectral index (BIS) values in patients who underwent septoplasty operation.

Aim: The study aimed to investigate the effect of varying testosterone levels in the morning and evening on the depth of anaesthesia in patients who underwent a septoplasty.

Materials And Methods: Male patients who underwent septoplasty under general anaesthesia between September 2016 and September 2017 were included in the study. The patients were divided into two groups.

Liver Transplantation in Alstrom Syndrome: A Case Report.

Alstrom syndrome is a genetic disorder with autosomal recessive inheritance and multiple organ failure. Hearing loss, childhood obesity, diabetes mellitus, and nonalcoholic fatty liver disease are common disorders in this disease. Degree of nonalcoholic fatty liver disease ranges from benign steatosis to cirrhosis.

Effects of exercise on periodontal parameters in obese women.

Background: Several studies have demonstrated an association between obesity, periodontitis, and exercise.

Aims: This study aimed to investigate the effects of regular exercise on obese women with periodontal disease, using serum, saliva, and gingival crevicular fluid (GCF) samples. A before-after study design was adopted to evaluate the effects of 12 weeks of regular exercise on obese women grouped according to periodontal status, without a control group (no exercise).

Effects of Dexamethasone on Bupivacaine-Induced Peripheral Nerve Injection Injury in the Rat Sciatic Model.

Introduction: The aim of this study was to investigate the effect of perineural dexamethasone against intraneural bupivacaine.

Material And Methods: Rats were divided into 9 groups with 6 animals in each group; Group 1 (Intraneural saline 600 µL-2ndday), Group 2 (Intraneural saline 600 µL-7th day), Group 3 (Intraneural saline 600 µL + perineural dexamethasone 0.5 mg/kg-2nd day), Group 4 (Intraneural saline 600 µL + perineural dexamethasone 0.

Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.

AMPK (adenosine monophosphate-activated protein kinase) is phosphorylated (AMPK-P) in response to low energy through allosteric activation by Adenosine mono- or diphosphate (AMP/ADP). Folliculin (FLCN) and the FLCN-interacting proteins 1 and 2 (FNIP1, 2) modulate AMPK. FNIP1 deficiency patients have a AMPK-P gain of function phenotype with hypertrophic cardiomyopathy, Wolff-Parkinson-White pre-excitation syndrome, myopathy of skeletal muscles and combined immunodeficiency.

The Efficacy and Evidence-Based Use of Biologics in Children and Adolescents: Using Monoclonal Antibodies and Fusion Proteins as Treatments.

Background: Monoclonal antibodies (mAb) and fusion proteins (FP) are increasingly being used in children and adolescents. In this review, we analyze the evidence for their safety and efficacy in the treatment of the most common chronic inflammatory diseases.

Methods: We systematically searched PubMed, AWMF.

The effectiveness of serum amyloid A for prediction of neonatal cholestasis associated with parenteral nutrition in premature infants.

Özkan H, Köksal N, Doğan P, Güney-Varal İ, Bağcı O, Özgür T. The effectiveness of serum amyloid A for prediction of neonatal cholestasis associated with parenteral nutrition in premature infants. Turk J Pediatr 2019; 61: 26-33.

Liver Involvement in Congenital Hypopituitarism.

Objective: Cholestatic jaundice in early infancy is a complex diagnostic challenge. Cholestasis caused by endocrine disease is rare and poorly recognized. The aim of this paper is to report patients with liver dysfunctions resulting from hypopituitarism.

Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient?

Çekiç Ş, Özgür T, Karalı Y, Özkan T, Kılıç SŞ. Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient? Turk J Pediatr 2019; 61: 937-940. The loss of inflammatory regulation resulting from the absence of B-lymphocytes leads to a risk for autoimmune and autoinflammatory complications.

Investigation of Therapeutic Effects of Erdosteine on Polycystic Ovary Syndrome in a Rat Model.

Objective: Polycystic ovary syndrome (PCOS) is a serious endocrine disorder. In the present study, we investigated the therapeutic effects of erdosteine in letrozole-induced PCOS in rats.

Methods: Thirty-two Wistar albino female rats were grouped as control group (C), PCOS group (PCOS), PCOS-metformin group (PCOS+MET), and PCOS-erdosteine group (PCOS+Erd).

B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy.

Purpose: Transient hypogammaglobulinemia of infancy (THI) is a common immunodeficiency, but definitive diagnosis can only be made retrospectively. While the pathogenesis is still unknown, abnormalities have been reported in the B cell compartment. In this study, we analysed the B cell subsets of patients with an initial THI diagnosis (n = 20) and compared them with those of healthy age-matched Turkish children (n = 72).

Does cyclin E and p57 expression have prognostic and survival value in colorectal adenocarcinoma?

Introduction: Colorectal cancer is still one of the main causes of cancer death in the world. There is a continous need for novel biomarkers for diagnose, treatment modalities and follow-up. Cyclin E and p57 as the positive and negative regulators of cell cycle seem to be an important target for investigations.