Whole exome sequencing revealed new variants and haplotypes associated with monogenic obesity.

Objectives: This study aims to identify new variants and haplotypes associated with monogenic obesity by analyzing known obesity genes in whole exome sequencing (WES) data.

Methods: The monogenic obesity-associated genes were identified by using the National Institutes of Health (NIH) Genetic Testing Registry (GTR) monogenic obesity panels. WES was performed on ( = 49) extremely obese (children under 5 with weight-for-height greater than 3 standard deviations (SD) above the World Health Organization (WHO) Child Growth Standards median) and ( = 50) control nonobese (25 > body mass index (BMI) < 30) subjects without a history of childhood obesity, and also Iranome WES data of healthy subjects ( = 800).

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

A rare type of autosomal recessive skeletal disorder, known as microcephalic osteodysplastic primordial dwarfism (MOPD) type II, causes a wide range of clinical abnormalities, including skeletal dysplasia, microcephaly, abnormal skin pigmentation, insulin resistance, typical facial features, and severe tooth deformities. Given the diverse manifestations of MOPD disorders and the overlapping clinical characteristics among primordial dwarfism (PD) subtypes, mutation analysis is crucial for accurate diagnosis and confirmation of MOPD II. In this study, whole-exome sequencing (WES) and GAP-PCR were employed to identify relevant genetic variants in three patients suspected of having MOPD.

A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

Aims: Neonatal diabetes is a monogenic condition which can be the presenting feature of complex syndromes. The aim of this study was to identify novel genetic causes of neonatal diabetes with neurological features including developmental delay and epilepsy.

Methods: We performed genome sequencing in 27 individuals with neonatal diabetes plus epilepsy and/or developmental delay of unknown genetic cause.

Association of hepatitis delta virus infection and hepatocellular carcinoma, hepatic decompensation, all-cause and liver-related death in a national cohort.

Background: Hepatitis Delta Virus (HDV) infection is the most severe form of chronic hepatitis. However, studies on outcomes and causes of death in a United States-born population, with primarily horizontal transmission of HDV, are lacking. The aim of this study was to conduct a national study of patients with hepatitis D to understand the natural history and outcomes compared to patients with hepatitis B virus (HBV).

ACE I/D gene polymorphisms and polycystic ovary syndrome manifestations.

Objective: Polycystic ovary syndrome (PCOS) is a common multifactorial endocrine disorder affecting women of reproductive age. ACE enzyme is involved in the physiopathology of the ovarian system, and there are inconsistencies between studies regarding the association between ACE gene variants and PCOS. The objective of this study is to evaluate the association between ACE I/D gene polymorphisms and PCOS, as well as its clinical manifestations, in Iranian women with PCOS.

The effect of Tecar therapy on neurological disorders and nerve conduction velocity of lower limbs in peripheral neuropathy of type 2 diabetic patients: A six-week follow-up study.

Objectives: This study aimed to investigate the effect of Tecar therapy on neuropathy symptoms and tibial nerve conduction velocity in individuals with diabetes.

Patients And Methods: The single-blind, randomized, sham-controlled clinical trial was conducted between January 2019 and October 2019. Twenty-four type 2 diabetics (8 males, 16 females; mean age: 60.

Targeted Rapamycin Delivery via Magnetic Nanoparticles to Address Stenosis in a 3D Bioprinted in Vitro Model of Pulmonary Veins.

Vascular cell overgrowth and lumen size reduction in pulmonary vein stenosis (PVS) can result in elevated PV pressure, pulmonary hypertension, cardiac failure, and death. Administration of chemotherapies such as rapamycin have shown promise by inhibiting the vascular cell proliferation; yet clinical success is limited due to complications such as restenosis and off-target effects. The lack of in vitro models to recapitulate the complex pathophysiology of PVS has hindered the identification of disease mechanisms and therapies.

Hepatitis delta testing trends in a US national cohort: An analysis of patient and provider-level predictive factors.

Background: The low prevalence of HDV infection in the United States could be attributed to insufficient testing rate, which can result in an underestimation of the true burden of HDV. The primary objective of this study is to quantify the prevalence of and factors associated with HDV antibody (anti-HDV) or RNA testing, among participants with positive HBsAg in the Veterans Health Administration (VHA).

Methods: We conducted a retrospective cohort study of participants who tested positive for HBsAg between January 2000 and December 2022 within the VHA.

The impact of the affordable care act and Medicaid expansion on colorectal cancer screening: Evidence from the 5th year of Medicaid expansion.

Background: Colorectal cancer screening rates remain suboptimal, particularly among low-income populations. Our objective was to evaluate the long-term effects of Medicaid expansion on colorectal cancer screening.

Design, Setting, And Participants: This cross-sectional study analyzed data from 354,384 individuals aged 50-64 with an income below 400% of the federal poverty level (FPL), who participated in the Behavioral Risk Factors Surveillance System from 2010 to 2018.

"Hyperglycemic Memory": Observational Evidence to Experimental Inference.

Several epidemiological studies have appreciated the impact of "duration" and "level" of hyperglycemia on the initiation and development of chronic complications of diabetes. However, glycemic profiles could not fully explain the presence/absence and severity of diabetic complications. Genetic issues and concepts of "hyperglycemic memory" have been introduced as additional influential factors involved in the pathobiology of late complications of diabetes.

Association of the APOE gene variants with depression in type 2 diabetes.

Background: The risk of depression among patients with diabetes is higher than the general population. The exact mechanisms linking these two diseases are mostly unknown. Energy metabolism disorders seem to be a shared pathway.

Investigating the relationship between the VNTR variant of the interleukin-1 receptor antagonist gene and coronary in-stent restenosis.

Objective: This study aimed to examine the association between the interleukin-1 receptor antagonist gene (IL-1RN) and coronary in-stent restenosis (ISR) through the analysis of the VNTR variant based on the previously reported results.

Materials And Methods: The samples were classified into two clearly defined groups: the case group, which comprised 45 patients diagnosed with in-stent restenosis (ISR+), and the control group, which included 60 patients without ISR (ISR-). Polymerase chain reaction (PCR) was performed to examine the 86-bp VNTR variant of the IL-1RN gene.

promoter methylation and expression in endometrial cancer tissues.

Some gene expression regulation in cancers can be controlled by epigenetic change like methylation.  promoter methylation and expression were evaluated in endometrial cancer. The study was run on 39 tumor tissues of endometrial cancer patients and 41 normal endometrial tissues.

Association of ACE gene polymorphisms with in-stent restenosis by stent type (biomime, supraflex, xience).

Introduction: Angiotensin Converting Enzyme or ACE is an exo-peptidase that causes the conversion of angiotensin I to angiotensin II, vasoconstriction, and aldosterone production. ACE gene polymorphism (I/D) affects enzyme activity and the risk of coronary artery disease or CAD.

Aims: To examine the role of ACE (I/D) Gene Polymorphisms by Stent Types (Biomime, Supraflex, Xience) the Ace gene allele and genotype frequencies were determined in patients who underwent angioplasty.

Metformin and long non-coding RNAs in breast cancer.

Breast cancer (BC) is the second most common cancer and cause of death in women. In recent years many studies investigated the association of long non-coding RNAs (lncRNAs), as novel genetic factors, on BC risk, survival, clinical and pathological features. Recent studies also investigated the roles of metformin treatment as the firstline treatment for type 2 diabetes (T2D) played in lncRNAs expression/regulation or BC incidence, outcome, mortality and survival, separately.

Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels.

The genetic association of coronavirus disease 2019 (COVID-19) with its complications has not been fully understood. This study aimed to identify variants and haplotypes of candidate genes implicated in COVID-19 related traits by combining the literature review and pathway analysis. To explore such genes, the protein-protein interactions and relevant pathways of COVID-19-associated genes were assessed.

Relationship between a near Melanocortin-4 receptor gene variant and puberty timing in children is vague unlike obesity.

Background: Obesity is a complicated phenomenon which is a combination of genetic, environmental, and psychological factors. Genetic factors of obesity play an important role in individual risk. It is well known that obese children have disturbed puberty timing.

The role of inflammatory miRNA-mRNA interactions in PBMCs of colorectal cancer and obesity patients.

Introduction: Inflammation is a critical hallmark in obesity and colorectal cancer (CRC). This study aimed to investigate effective microRNA (miRNA)-messenger RNA (mRNA) interactions on inflammatory networks involved in obesity and CRC.

Methods: The literature searches were applied to identify genes expression reported on peripheral blood mononuclear cells (PBMCs) and/or blood of CRC subjects and to find inflammatory miRNA  in blood samples.

Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran.

Objectives: Maturity-onset diabetes of the young (MODY), an autosomal dominant disease, is frequently misdiagnosed as type 1 or 2 diabetes. Molecular diagnosis is essential to distinguish them. This study was done to investigate the prevalence of MODY subtypes and patients' clinical characteristics.

The importance of regulatory pathway mediated by Circ0001955 in colorectal cancer.

Introduction: Colorectal cancer (CRC) has become one of the most common cancers in recent years. Given the importance that non-coding RNAs have recently acquired in various diseases including cancers, we decided to design this study to evaluate the expression levels of circ0001955/miR-145-5p/ONECUT2 axis in CRC.

Methods: After bioinformatics analysis of GEO datasets related to CRC, a putative circ0001955/ miR-145-5p/ ONECUT2 pathway was assumed.

The vitamin D receptor gene variants, ApaI, TaqI, BsmI, and FokI in diabetic foot ulcer and their association with oxidative stress.

Introduction: To date, numerous disorders have been linked to vitamin D deficiency. Several lines of evidence indicate a relationship between vitamin D deficiency and the risk of developing type 2 diabetes. It has been postulated that vitamin D may influence insulin activity, which can predispose individuals to develop type 2 diabetes.

Adenosine deaminase gene variant in diabetes and obesity.

Purpose: Personal medicine is a new notion for individualizing treatment in the future. Studying pathogenic markers including genetic variants would be beneficial in better diagnosis and management of complex diseases such as diabetes and obesity. Adenosine deaminase (ADA) is a purine metabolic enzyme and modulates insulin activity in various tissues through several different mechanisms.