Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

The impact of multiplex nested gastrointestinal PCR panel in children with gastroenteridis requiring pediatric infectious disease consultation.

Unlabelled: Infectious gastroenteritis is an important cause of morbidity and mortality, especially in nations with middle and low incomes. In a pediatric gastroenteritis patient, the aim was to determine the therapeutic impact of using the Gastrointestinal Panel in our clinical practice. A single-center retrospective study was designed to evaluate children who were admitted to the hospital for gastroenteritis and had a gastrointestinal panel between August 2021 and January 2024.

End-to-end deep learning patient level classification of affected territory of ischemic stroke patients in DW-MRI.

Purpose: To develop an end-to-end DL model for automated classification of affected territory in DWI of stroke patients.

Materials And Methods: In this retrospective multicenter study, brain DWI studies from January 2017 to April 2020 from Center 1, from June 2020 to December 2020 from Center 2, and from November 2019 to April 2020 from Center 3 were included. Four radiologists labeled images into five classes: anterior cerebral artery (ACA), middle cerebral artery (MCA), posterior circulation (PC), and watershed (WS) regions, as well as normal images.

Hyperandrogenemia impairs endometrial vitamin D receptor expression in polycystic ovary syndrome.

Objectives: To determine the effects of hyperandrogenemia and other phenotypic parameters on endometrial vitamin D receptor (VDR-X2 and VDR-X4) expression in women with polycystic ovary syndrome (PCOS) undergoing ovarian stimulation and total embryo freezing.

Methods: Forty-four PCOS patients were divided into four phenotypes according to the criteria for hyperandrogenemia (HA), ovulatory dysfunction (OD), and polycystic ovary morphology (PCOM): phenotype A (HA+OD+PCOM), phenotype B (HA+OD), phenotype C (HA+PCOM), and phenotype D (OD+PCOM). Endometrial VDR expression was determined by real-time PCR and immunohistochemistry.

Polycystic Ovary Syndrome Accompanied by Hyperandrogenemia or Metabolic Syndrome Triggers Glomerular Podocyte Injury.

To determine whether the urinary excretion of podocyte degradation products varies according to PCOS phenotype and metabolic syndrome (MetS). The concentrations of podocalyxin (PDX) and nephrin, chronic markers of podocyte damage, and neutrophil gelatinase-associated lipocalin (NGAL), a marker of acute glomerular damage, were analyzed in the morning urine samples of 50 PCOS patients and 50 healthy controls matched by age and BMI. Albuminuria was assessed by calculating the urine albumin-creatinine ratio (uACR).

Deep Learning Classification of Ischemic Stroke Territory on Diffusion-Weighted MRI: Added Value of Augmenting the Input with Image Transformations.

Our primary aim with this study was to build a patient-level classifier for stroke territory in DWI using AI to facilitate fast triage of stroke to a dedicated stroke center. A retrospective collection of DWI images of 271 and 122 consecutive acute ischemic stroke patients from two centers was carried out. Pretrained MobileNetV2 and EfficientNetB0 architectures were used to classify territorial subtypes as middle cerebral artery, posterior circulation, or watershed infarcts along with normal slices.

Percutaneous Metallic Stents in Malignant Biliary Obstruction: Comparison of Nitinol and Wall Stents.

Introduction: Palliation of malign biliary obstruction is important which is commonly carried out by percutaneous biliary stenting. Our primary aim with this study was assessment of performance of wall stents, and nitinol stents for the palliation of malign biliary obstruction.

Methods: The medical records of 157 patients who underwent biliary stenting in our department between January 1, 1995, and December 31, 2005, were retrospectively analyzed.

Artificial Intelligence in Stroke Imaging: A Comprehensive Review.

The aging population challenges the health-care system with chronic diseases. Cerebrovascular diseases are important components of these chronic conditions. Stroke is the acute cessation of blood in the brain, which can lead to rapid tissue loss.

Multidisciplinary treatment for a patient with Pentalogy of Cantrell in the COVID-19 pandemic.

In this article, we present a multidisciplinary approach for the treatment of a patient with Pentalogy of Cantrell, dextrocardia, perimembranous ventricular septal defect, secundum atrial septal defect, pulmonary valvular stenosis, and left ventricle diverticulum during the novel coronavirus disease 2019 pandemic.

The impact of screening for tuberculosis exposure in the household in children with tuberculosis disease: A difficult riddle to solve.

Background: Tuberculosis (TB) infection is transmitted by sharing the same airway with people with active TB. Children are often not considered the source of TB bacilli, and index case investigation is carried out after diagnosis. Here, we describe the impact of the presence of a household index case on childhood TB disease.

The evaluation of the burden of multisystem inflammatory syndrome in children on health economics.

Objectives: This study aimed to evaluate the diagnostic tests and treatments applied in patients with multisystem inflammatory syndrome in children (MIS-C) and to determine the effect of the disease on health costs.

Patients And Methods: This retrospective cohort study included 59 MIS-C patients (40 males, 19 females; mean age: 7.7±4.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs.

Sirolimus is effective and safe in childhood relapsed-refractory autoimmune cytopenias: A multicentre study.

Autoimmune cytopenias are a heterogeneous group of disorders characterized by immune-mediated destruction of haematopoietic cell lines. Effective and well-tolerated treatment options for relapsed-refractory immune cytopenias are limited. In this study, the aim was to evaluate the efficacy and safety of sirolimus in this disease group within the paediatric age group.

Voxel level dense prediction of acute stroke territory in DWI using deep learning segmentation models and image enhancement strategies.

Purpose: To build a stroke territory classifier model in DWI by designing the problem as a multiclass segmentation task by defining each stroke territory as distinct segmentation targets and leveraging the guidance of voxel wise dense predictions.

Materials And Methods: Retrospective analysis of DWI images of 218 consecutive acute anterior or posterior ischemic stroke patients examined between January 2017 to April 2020 in a single center was carried out. Each stroke area was defined as distinct segmentation target with different class labels.

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.

Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study.

Radiomics in differential diagnosis of Wilms tumor and neuroblastoma with adrenal location in children.

Objectives: Machine learning methods can be applied successfully to various medical imaging tasks. Our aim with this study was to build a robust classifier using radiomics and clinical data for preoperative diagnosis of Wilms tumor (WT) or neuroblastoma (NB) in pediatric abdominal CT.

Material And Methods: This is a single-center retrospective study approved by the Institutional Ethical Board.

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44).

Long pentraxin 3 and vitamin D receptor mRNA expression pattern of cumulus granulosa cells isolated from PCOS oocytes at different stages of nuclear maturation.

Background: A fine-tuned pro-inflammatory and anti-inflammatory balance in the follicular unit is essential for cumulus expansion and successful ovulation. While the long pentraxin 3 (PTX3) gene is required for the expansion of cumulus cells (CCs), ovulation, resumption of meiosis and fertilization, the vitamin D receptor gene (VDR-X2) is required for intra-follicle redox balance. This study was planned to determine the expression pattern of VDR-X2 and PTX3 mRNA in CCs isolated from germinal vesicle (GV), metaphase I (MI), and metaphase II (MII) oocytes of PCOS patients with ovulatory dysfunction.

The impact of the BIOFIRE Blood Culture Identification 2 Panel on antimicrobial treatment of children with suspected systemic inflammatory response syndrome and sepsis.

This study aimed to assess the therapeutic effects of implementing the BioFire Blood Culture Identification 2 (BCID2) Panel (bioMérieux, Marcy l'Etoile, France) in the clinical practice of children with sepsis. This retrospective cross-sectional study included children from 15 days of age to 18 years old with sepsis and of whom the BCID2 Panel was studied from the positive blood culture. If the antimicrobial treatment was changed according to the results of BCID2 Panel, it was recorded and re-grouped as targeted antimicrobial therapy, de-escalation of the antimicrobial treatment and shifting to another antimicrobial drug if any antimicrobial resistance was detected.