Pancreatitis as a Main Consequence of -Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants.

related hypertriglyceridemia occurs due to biallelic variants of this gene. Here, genotype-phenotype architecture of all pathogenic variants is investigated among heterozygous and homozygous individuals. Clinical heterogeneity of various types of the variants is also described, and pancreatitis in more than half of homozygotes carrying chain-termination variants is highlighted as well.

Risk Factors of Seizure in Childhood Shigellosis.

Objectives: Shigellosis is one of the common causes of bacterial diarrhea in children. Seizures are common in shigellosis. It is essential to identify the risk factors of seizure in this disease.

A novel likely pathogenic homozygous RBCK1 variant in dilated cardiomyopathy with muscle weakness.

Aims: Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease where polyglucosan accumulation leads to cardiomyopathy and skeletal muscle myopathy. Variants of RBCK1 is related with PGBM1. We present a newly discovered pathogenic RBCK1 variant resulting in dilated cardiomyopathy (DCM) and a comprehensive literature review.

Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.

Background: Although structural heart disease is frequently present among patients who experience sudden cardiac death (SCD), inherited arrhythmia syndromes can also play an important role in the occurrence of SCD. CPVT2, which is the second-most prevalent form of CPVT, arises from an abnormality in the CASQ2 gene.

Objective: We represent a novel CASQ2 variant that causes CPVT2 and conduct a comprehensive review on this topic.

The Effect of Adding Honey to Zinc in the Treatment of Diarrhea in Children.

Background: Honey has been used in medicine since ancient times. Limited reports are available to indicate its antibacterial, antiviral, and antidiarrheal properties. This study aimed to determine the effect of honey on acute diarrhea in children.

Anticancer Impacts of Terminalia catappa Extract on SW480 Colorectal Neoplasm Cell Line.

Purpose: Colorectal cancer (CRC) is one of the most lethal and prevalent cancers throughout the world. Despite the remarkable advance in the field, drug resistance still remains as an unresolved problem in cancer. Hence, finding effective compounds with minimal side effects to fight cancer is of central priority.

Vitamin D receptor gene (FokI, TaqI, BsmI, and ApaI) polymorphisms in children with urinary tract infection.

Background: Little is known about the genetic background of urinary tract infection (UTI) in children.

Methods: In this study, vitamin D receptor (VDR) gene polymorphisms were compared between 60 children with UTI (case group) and 60 healthy children (control group). DNA extraction, polymerase chain reaction, and the restriction fragment length polymorphism methods were used to perform the genetic analysis.