Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.

Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.

Case Presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes.

A Comparison of Kawasaki Disease during the SARS-CoV-2 Pandemic with Multisystem Inflammatory Syndrome in Children.

Objectives: The purpose of this study was to compare and contrast Kawasaki disease (KD) with multisystem inflammatory syndrome in children (MIS-C) during the SARS-CoV-2 pandemic.

Methods: A retrospective analysis of the medical records of patients diagnosed with KD and MIS-C at a single institution from July 2020 to November 2021 was performed.

Results: The study included 39 MIS-C patients (84.

Prenatal diagnosis of ectopic kidney: Evaluation of characteristics, additional anomalies and urinary complications.

Objective: To assess the characteristics, additional structural anomalies and postnatal urinary outcome of the cases diagnosed with fetal ectopic kidneys in the prenatal period.

Study Design: Cases having fetal ectopic kidneys, detected from a total of 14,617 pregnant women examined by routine detailed (Group 1) or indicated (Group 2) obstetric ultrasonography (USG) in a tertiary perinatology unit were analyzed. The prevalence of the cases, time of the diagnosis, sidedness of the affected kidney, anatomical location, origins of blood supply, additional urinary or extraurinary anomalies, and urinary complications during the postnatal follow-up period were investigated.

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

Background: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings.

The Value of Electroencephalogram (EEG) Findings in the Evaluation and Treatment Management of Pediatric Acute Liver Failure.

Background Pediatric acute liver failure (PALF) is still life-threatening and requires urgent care. The presence of encephalopathy is a clinical diagnosis, but it is more difficult to diagnose in children than in adults, and an electroencephalogram (EEG) can be invaluable. The role of EEG in managing the treatment of patients with PALF, other than the identification of encephalopathy, is unknown.

Rare Cause of Hematochezia in Children: Solitary Rectal Ulcer, Single Center Experience.

Background/aims: Solitary rectal ulcer syndrome (SRUS) can be overlooked, diagnosed late, or misdiagnosed, particularly in childhood. This study reviewed the 13-year experience of the authors' institution to increase clinicians' awareness of SRUS in the presence of symptoms. This paper reports the endoscopic and histopathological findings in children presenting with hematochezia.

Retrospective analysis of children diagnosed with Kawasaki disease.

Background: The aim of our study was to evaluate the long-term impacts of Kawasaki disease on our patients regarding coronary involvement demographic characteristics, treatment regimens, and clinical course.

Methods: Our study included 104 patients diagnosed and hospitalized with Kawasaki disease in our center, from January 2004 to January 2019. In our study, patients were divided into three groups according to coronary artery involvement.

The effect of anxiety and depression levels of children with celiac disease on quality of life.

Purpose: This study was conducted to examine the effect of anxiety and depression levels on quality of life in children with celiac disease.

Design And Method: This descriptive and correlational study was conducted with 98 children diagnosed with celiac disease who applied to the pediatric outpatient clinic of a university hospital in Eastern Anatolia between September 2021 and August 2022. Data were collected using the State-Trait Anxiety Scale, Depression Scale, and Quality of Life Scale through face-to-face interviews conducted by the researchers.

Liver Transplantation for Hepatocellular Carcinoma in Patients with Inherited Metabolic Liver Diseases: A Single-Center Analysis.

Background/aims: Liver transplantation is an acceptable treatment for some selected hepatocellular carcinoma. We report our experience of 6 patients with liver transplantation for hepatocellular carcinoma with background inherited metabolic disease.

Materials And Methods: This is a single-center retrospective, descriptive study.

Evaluation of Inferior and Superior Vena Cava and the Vena Cava Ratio in Growth Restricted Fetuses.

Objective: To evaluate the changes in the diameters of superior vena cava (SVC) and inferior vena cava (IVC) and to measure the ratio between SVC and IVC in growth-restricted fetuses and compare these results with normally grown fetuses.

Methods: Twenty-three consecutive patients with fetal growth restriction (FGR) (Group I) and 23 pregnant gestational age-matched controls (Group II) between 24 and 37 weeks of gestation were enrolled in the study between January 2018 and October 2018. The diameter of the SVC and IVC from inner wall to inner wall was measured in all patients by sonographic examination.

Retrospective evaluation of therapeutic plasma exchange treatment in a pediatric intensive care unit: Single-center experience.

Background: The aim of this study is to characterize the clinical indications, outcomes, and complications of therapeutic plasma exchange (TPE) in pediatric intensive care unit.

Methods: A retrospective study was conducted on critically ill patients who received TPE. A dataset of 672 treatments administered to 102 patients was analyzed.

Mortality risk factors among critically ill children with MIS-C in PICUs: a multicenter study.

Background: This study evaluated of clinical characteristics, outcomes, and mortality risk factors of a severe multisystem inflammatory syndrome in children admitted to a the pediatric intensive care unit.

Methods: A retrospective multicenter cohort study was conducted between March 2020 and April 2021 at 41 PICUs in Turkey. The study population comprised 322 children diagnosed with multisystem inflammatory syndrome.

Knowledge regarding celiac disease among healthcare professionals, patients and their caregivers in Turkey.

Background: Celiac disease (CD) is one of the most prevalent chronic disorders. The clinical manifestations of CD are diverse and may present with gastrointestinal findings, extra-intestinal findings or no symptoms. Although there has been a marked increase in the prevalence of CD in the past 30 years, up to 95% of patients with CD remain undiagnosed.

Does the severity of diabetic ketoacidosis in children with type 1 diabetes change during the COVID-19 pandemic? A single-center experience from a pediatric intensive care unit.

Objective: During the COVID-19 pandemic, health-care services for diseases other than COVID-19 were interrupted, and patient referrals to health institutions were postponed due to their fear of being infected with COVID-19. Under this situation, we conducted this study to evaluate the clinical and laboratory findings of COVID-19 in patients with Type 1 Diabetes Mellitus (T1DM) hospitalized in our pediatric intensive care unit (PICU) with the diagnosis of diabetic ketoacidosis (DKA) during the pandemic period, and the impact of the pandemic on these findings.

Methods: We retrospectively evaluated 55 children aged from 1 month to 18 years old, diagnosed with DKA, and followed up at Istanbul Sehit Prof.

Burnout, mental health symptoms, and empathy in healthcare workers who care for children treated in a liver transplant center.

Objective: The healthcare workers in pediatric liver transplantation units are exposed to various stresses; however, their burnout has not been clarified yet. This study aimed to determine burnout, psychological symptoms and empathy levels in healthcare workers, to examine the relationship between these variables and to investigate the predictors of burnout.

Method: This cross-sectional study was conducted on healthcare workers in Turgut Özal Medical Center Pediatric Liver Transplant Institute.

Cardiovascular Outcomes in Children with Multisystem Inflammatory Syndrome Treated with Therapeutic Plasma Exchange.

Background: Multisystem inflammatory syndrome in children is a new, rare, post-infectious complication of SARS-CoV-2 infection in children. The aim of this study was to display the role of therapeutic plasma exchange on cardiovascular outcomes in children with multisystem inflammatory syndrome. Methods: This study included children who met the diagnostic criteria for multisystem inflammatory syndrome and who were admitted to the intensive care unit.

Efficacy of extracorporeal membrane oxygenation in pediatric COVID-19 and MIS-C cases: A single-center experience.

Background: This study aimed to evaluate the need and the indication of extracorporeal membrane oxygenation (ECMO) in patients diagnosed with coronavirus disease 2019 (COVID-19) and multisystem inflammatory syndrome in children (MIS-C) followed up in the pediatric intensive care unit by the demographic, clinical, and laboratory data and treatment response.

Methods: A total of 79 patients (43 males, 36 females; median age: 138 months; range, 6 to 210 months) with COVID-19 and MIS-C followed up between September 2020 - September 2021 were included in this retrospective study. Demographic and clinical data were retrospectively collected from patient files, and clinical data, laboratory findings, chest X-rays, and echocardiography results of six patients (1 male and 5 female, median age: 159 months, range, 13 to 210 months) who needed ECMO due to poor response to medical treatment were recorded before and after the ECMO therapy.

Factors Associated with Low Bone Mineral Density at the Time of Diagnosis in Children with Celiac Disease.

Objective: It has been reported that bone mineral density (BMD) is decreased in children with Celiac disease (CD) compared to their healthy peers. The aim of this study was to reveal possible risk factors for low BMD in Turkish children newly diagnosed with CD.

Methods: Eighty-six patients (2-18 years old) with CD were included in this retrospective study.

The changing face of abuse cases in a pediatric intensive care unit: A single-center experience.

Background: Due to the increase in abuse and neglect cases in recent years, the purpose of this study was to assess child abuse and neglect of patients who were hospitalized and followed up in our pediatric intensive care unit (PICU).

Methods: A total of 34 abuse and neglect patients who were admitted to the PICU from August 2020 to March 2021 were included retrospectively in the study. Patients' clinical and demographic characteristics were obtained from our hospital's patient record system (HIS).

Successful treatment with therapeutic plasmapheresis of a pediatric patient with Guillain-Barré syndrome associated with neurobrucellosis.

Brucellosis is a multisystemic disease that can present with multiple signs and symptoms. Rarely, brucellosis can manifest as neurobrucellosis, with central or peripheral nervous system involvement. Guillain-Barré syndrome (GBS) is a post-infectious autoimmune disease that progresses rapidly, causing ascending muscle weakness, and is accompanied by areflexia/hyporeflexia.

Can charcoal hemoperfusion treatment be an option for pediatric MIS-C patients? A single-center experience in a tertiary pediatric intensive care unit.

Introduction: Multisystem inflammatory syndrome in children (MIS-C) is a hyper-inflammatory disorder that develops following SARS-CoV-2 infection and has clinical signs that overlap with Kawasaki disease. Immunomodulatory treatments can be used in these patients. One of the alternative treatments reported in the literature is hemoperfusion therapy.

Ultra-structural and histopathological features of liver biopsy taken during laparotomy to confirm the diagnosis of biliary atresia.

Background: Neonatal cholestasis is caused by a group of diseases that cause jaundice, which can be encountered in the neonatal period. Biliary atresia (BA) and idiopathic neonatal hepatitis (INH) are among neonatal cholestasis diseases.

Aims: The aim of this study was to perform histopathological and ultra-structural examinations of liver biopsy tissue samples from BA and INH patients with liver biopsies taken during laparotomy to confirm the diagnosis of biliary atresia.

A case of severe DRESS syndrome treated with therapeutic plasma exchange and intravenous immunoglobulin therapy.

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome in children is a rare adverse drug reaction with skin rash, fever, hematologic abnormalities, and multiorgan involvement. The diagnosis is difficult because of its various clinical presentations, nonetheless is extremely important due to the mortality rate. We describe a 14-year-old boy who developed hypersensitivity to either teicoplanin or meropenem therapy.