A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder.

Autism spectrum disorder (ASD) is a genetically heterogeneous neurobehavioral disorder. The etiology and the inheritance pattern are usually multifactorial. The index case is a 3-year-old male, whose family applied to the child psychiatry outpatient clinic due to failure to speak at 30 months.

A new perspective on isotretinoin in pregnancy: Pregnancy outcomes, evaluation of complex phenotypes, and importance of teratological counselling.

Objectives: Teratogens are responsible for 5% of all known causes of congenital anomalies. Isotretinoin, a retinoic acid-derived agent, leads to congenital anomalies in 21-52% of cases when exposure occurs during pregnancy according to studies conducted before 2006. However, rates of congenital anomalies were much lower in later studies.

Finite element analysis of biplanar customized reconstruction plates for lateral and central segmental defects of mandible.

The purpose of this study is to compare biplanar custom mandibular reconstruction plates with locking reconstruction plates in bridging central and lateral mandibular segmental defects by using the finite element method. Central and two different types of lateral segmental defects were created on mandibular model that was generated from computed tomography of a male patient. Segmental defects were fixed with conventional locking reconstruction plates and two different custom designed plates with caudobuccal and dorsobuccal cover.

Biological basis and proposed mechanism of action of CSL112 (apolipoprotein A-I [human]) for prevention of major adverse cardiovascular events in patients with myocardial infarction.

Despite current standard of care treatment, the period shortly after acute myocardial infarction (AMI) is associated with high residual cardiovascular (CV) risk, with high rates of recurrent AMI and CV death in the first 90 days following the index event. This represents an area of high unmet need that may be potentially addressed by novel therapeutic agents that optimize high-density lipoprotein cholesterol (HDL-C) function rather than increase HDL-C concentrations. Apolipoprotein A-I (apoA-I) is the major constituent of HDL and a key mediator of cholesterol efflux from macrophages within atherosclerotic plaque, a property especially relevant during the high-risk period immediately following an AMI when cholesterol efflux capacity is found to be reduced.

Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2.

DEK has a short isoform (DEK isoform-2; DEK2) that lacks amino acid residues between 49-82. The full-length DEK (DEK isoform-1; DEK1) is ubiquitously expressed and plays a role in different cellular processes but whether DEK2 is involved in these processes remains elusive. We stably overexpressed DEK2 in human bone marrow stromal cell line HS-27A, in which endogenous DEKs were intact or suppressed via short hairpin RNA (sh-RNA).

ApoA-I Infusion Therapies Following Acute Coronary Syndrome: Past, Present, and Future.

Purpose Of Review: The elevated adverse cardiovascular event rate among patients with low high-density lipoprotein cholesterol (HDL-C) formed the basis for the hypothesis that elevating HDL-C would reduce those events. Attempts to raise endogenous HDL-C levels, however, have consistently failed to show improvements in cardiovascular outcomes. However, steady-state HDL-C concentration does not reflect the function of this complex family of particles.

Inverse relationship between body mass index and risk of venous thromboembolism among medically ill hospitalized patients: Observations from the APEX trial.

Obesity is associated with cardiovascular complications such as diabetes and hypertension. However, obesity and high body mass index (BMI) can also be linked to improved clinical outcomes in certain patient populations. This counterintuitive observation is called the "obesity paradox.

Investigation of anxiety sensitivity levels of cancer patients in terms of COVID-19 vaccine: a cross-sectional study.

Introduction: Our study's purpose was to investigate the viewpoints of cancer patients who had not yet been vaccinated. Cancer patients usually cannot get every vaccine because their immunity is low. For this reason, we aimed to detect their anxiety and curiosity for new vaccines for a new disease.

Early and late recurrent cardiovascular events among high-risk patients with an acute coronary syndrome: Meta-analysis of phase III studies and implications on trial design.

Background: Despite low-density lipoprotein cholesterol-lowering therapies and other standard-of-care therapy, there remains a substantial residual atherosclerotic risk among patients with an acute coronary syndrome (ACS). This study aims to estimate the risk of early and late recurrent major adverse cardiovascular events (MACE) and address its implications on trial design.

Methods: A literature search was performed to collect phase III interventional trials on high-risk ACS patients.

Cholesterol Efflux Capacity and Its Association With Adverse Cardiovascular Events: A Systematic Review and Meta-Analysis.

Serum high-density lipoprotein cholesterol (HDL-C) levels are inversely associated with cardiovascular disease events. Yet, emerging evidence suggests that it is the functional properties of HDL, in particular, reverse cholesterol transport, which is a key protective mechanism mediating cholesterol removal from macrophage cells and reducing plaque lipid content. Cholesterol efflux capacity (CEC) measures the capacity of HDL to perform this function.

Biomechanical evaluation of caudally and buccally screwed customised reconstruction plates for lateral segmental defects of mandible.

The aim of this study was to compare locking reconstruction plates with caudobuccally screwed custom mandibular reconstruction plates in bridging lateral mandibular segmental defects. The in vitro study was conducted on 13 polyurethane mandibles. A total of 7 mandibles with lateral segmental defects were bridged with locking reconstruction plates in group I, 6 mandibles with the same standard defect were bridged with caudobuccally screwed customised reconstruction plates in group II.

Fecal calprotectin levels used as a noninvasive method for screening for chronic gastritis in pediatric patients. A descriptive study.

Background: Gastritis consists of inflammation of the gastric mucosa and is one of the main causes of dyspeptic symptoms in children.

Objective: To investigate the presence of inflammation by evaluating fecal calprotectin (FC) in children diagnosed with chronic gastritis.

Design And Setting: Descriptive study in Pediatric Gastroenterology Department of Ondokuz Mayis University Hospital in Turkey.

Endoscopic Ultrasonography in Pediatric Patients with Pancreatobiliary Disease: Single-Center Trial.

Purpose: The use of Endoscopic ultrasonography (EUS) in pediatric patients is not as common as in adults. The aim of this study is to evaluate the role of EUS in the diagnosis of pancreatobiliary disease in childhood.

Methods: Between December 2016 and January 2018, the findings of patients who underwent EUS were evaluated retrospectively.

Association of obesity and non-alcoholic fatty liver disease with the fecal calprotectin level in children.

Background And Study Aims: As the prevalence of obesity increased, obesity-related comorbidities such as non-alcoholic fatty liver disease (NAFLD) also increased. The aim of this study is to investigate the presence of intestinal inflammation by evaluating the faecal calprotectin (FC) level in children with obesity and NAFLD and to determine the factors affecting the FC level.

Patients And Methods: Between August 2018 and November 2018, the FC levels of obese patients (Group 1a = NAFLD (n = 30) and 1b = without NAFLD (n = 30)) were prospectively compared to that of healthy children (Group 2, n = 20).

Pre- and Postgastrostomy Evaluation of Gastroesophageal Reflux in Children Using 24-Hour pH Monitoring.

The aim of this study was to evaluate 24-hour pH monitoring results before and after gastrostomy in neurological impaired (NI) children who underwent gastrostomy or Nissen fundoplication (NF) concurrently with gastrostomy. Between March and December 2018, NI patients who had previously received pre- and postgastrostomy (Group 1) or gastrostomy + NF (Group 2) underwent pH monitoring pre- and postoperatively. Twenty patients [12 males (60%) and the median age of 5.

Evaluation of the accuracy of different apex locators in determining the working length during root canal retreatment.

This study aimed to assess the accuracy of three electronic apex locators (EALs) (Dentaport ZX [J Morita, Tokyo, Japan], Propex Pixi [Dentsply Maillefer, Ballaigues, Switzerland], and iPex II [NSK, Tokyo, Japan]) during root canal retreatment. The root canal lengths of 90 extracted single-rooted human teeth were determined under a dental operating microscope at ×10 magnification. The actual working length (AWL) was 0.

Echocardiographic assessment of insulin-like growth factor binding protein-7 and early identification of acute heart failure.

Aims: Concentrations of insulin-like growth factor binding protein-7 (IGFBP7) have been linked to abnormal cardiac structure and function in patients with chronic heart failure (HF), but cardiovascular correlates of the biomarker in patients with more acute presentations are lacking. We aimed to determine the relationship between IGFBP7 concentrations and cardiac structure and to evaluate the impact of IGFBP7 on the diagnosis of acute HF among patients with acute dyspnoea.

Methods And Results: In this pre-specified subgroup analysis of the International Collaborative of N-terminal pro-B-type Natriuretic Peptide Re-evaluation of Acute Diagnostic Cut-Offs in the Emergency Department (ICON-RELOADED) study, we included 271 patients with and without acute HF.

Relation of White Blood Cell Count to Bleeding and Ischemic Events in Patients With Acute Coronary Syndrome (from the ATLAS ACS 2-TIMI 51 Trial).

An elevated white blood cell (WBC) count is associated with an increased risk of ischemic events among acute coronary syndrome (ACS) patients, but the association between WBC count and bleeding in ACS patients is not well established. The aim of this analysis was to assess and compare the association between WBC count and the occurrence of short- and long-term bleeding and ischemic events. This was a post hoc analysis of the ATLAS ACS2-TIMI 51 trial.

Fecal calprotectin in children with familial Mediterranean fever in the attack-free period.

Background: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever and serosal inflammation. The aim of this study was to evaluate fecal calprotectin (FC) in children with FMF during the non-attack period.

Methods: A retrospective evaluation was made of the data of a total 66 patients diagnosed with FMF in an attack-free period and without amyloidosis or inflammatory bowel disease (IBD).

Gallbladder Polyps: Rare Lesions in Childhood.

Objective: Unlike adults, gallbladder polyps (GPs) are rare in childhood. The aim of this study was to evaluate patients with a GP diagnosis.

Methods: Patients who were diagnosed with GP via ultrasonography from October 2012 to October 2017 were retrospectively evaluated in terms of sociodemographic characteristics and laboratory findings.

Most Promising Therapies in Interventional Cardiology.

Purpose Of Review: The last 40 years of clinical research in interventional cardiology were extraordinarily innovative. This article will review the most promising up and coming interventional cardiovascular therapies, with a primary focus on the treatment of coronary artery disease.

Recent Findings: From the first stent, to the first transcatheter aortic valve implantation (TAVI), and the left appendage closure technique, percutaneous interventions revolutionized the treatment of multiple diseases and dramatically improved the prognosis of many patients.