Genetic Variants in the Fat Mass and Obesity-Associated Gene and Risk of Obesity/Overweight in Children and Adolescents: A Systematic Review and Meta-Analysis.

Objective: The variations in the single-nucleotide polymorphisms (SNPs) of the fat mass and obesity (FTO)-associated gene have been linked to being overweight or obese in children. In this research a thorough examination was performed to elucidate the connection between various FTO gene SNPs and overweight or obesity in children and adolescents.

Method: We searched PubMed, Google scholar, Web of Science and Scopus until January 2024 to find studies that investigate the association between different SNPs of FTO gene and the risk of overweight/obesity in children and adolescents.

Highlighting fibroblast plasticity in lung fibrosis: the WI-38 cell line as a model for investigating the myofibroblast and lipofibroblast switch.

Myofibroblasts (MYFs) are generally considered the principal culprits in excessive extracellular matrix deposition and scar formation in the pathogenesis of lung fibrosis. Lipofibroblasts (LIFs), on the other hand, are defined by their lipid-storing capacity and are predominantly found in the alveolar regions of the lung. They have been proposed to play a protective role in lung fibrosis.

Familial primary calcific band-shaped keratopathy with late onset systemic disease: a case series and review of the literature.

Background: Familial calcific band-shaped keratopathy (BSK) is a very rare disease, with no underlying cause. There is no underlying disease in this form of the disease. This article introduces a family with seven children, three of whom were diagnosed with familial primary calcific BSK.

Massive Uveal Relapse of Retinoblastoma Presumed to Be Choroidal Tumorous Involvement: Case Series.

We report the choroidal and ciliary body invasion by retinoblastoma (RB) in a salvaged eye after complete and successful primary treatment. Case 1: A 25-month-old boy was referred due to group B RB lesions based on the International Classification of RB (ICRB; groups A-E) in the right eye (OD). His left eye (OS) was enucleated because of advanced group E RB.

A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of Causes Weill-Marchesani Syndrome with Intellectual Disability.

Background: Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by locus heterogeneity and variable expressivity. Patients suffering from WMS are described by short stature, brachydactyly, joint stiffness, congenital heart defects, and eye abnormalities. This disorder is inherited in two different modes; the autosomal dominant form of the disease occurs due to a mutation in , and the recessive form results from mutations in , , or genes.

KRAS, NRAS, BRAF, and PIK3CA mutation rates, clinicopathological association, and their prognostic value in Iranian colorectal cancer patients.

Aim: Mutations in KRAS, NRAS, BRAF, and PIK3CA genes are critical factors in clinical evaluation of colorectal cancer (CRC) development and progression. In Iran, however, the data regarding genetic profile of CRC patients is limited except for KRAS exon2 and BRAF V600F mutations. This study aimed to investigate the mutational spectrum and prognostic effects of these genes and explore the relationship between these mutations and clinicopathological features of CRC.

Addition of intravitreal carboplatin with melphalan for management of vitreous seeding in retinoblastoma.

Purpose: To evaluate the efficacy and toxicity of intravitreal carboplatin plus melphalan for the treatment of vitreous seeds in eyes with retinoblastoma (RB).

Methods: This retrospective series at a tertiary referral center included 22 consecutive RB patients who had received intravitreal carboplatin (16 μg per 0.05 ml) combined with melphalan (30 μg in 0.

FGF10 Triggers De Novo Alveologenesis in a Bronchopulmonary Dysplasia Model: Impact on Resident Mesenchymal Niche Cells.

Bronchopulmonary dysplasia (BPD) is a neonatal lung disease developing in premature babies characterized by arrested alveologenesis and associated with decreased Fibroblast growth factor 10 (FGF10) expression. One-week hyperoxia (HYX) exposure of newborn mice leads to a permanent arrest in alveologenesis. To test the role of Fgf10 signaling to promote de novo alveologenesis following hyperoxia, we used transgenic mice allowing inducible expression of Fgf10 and recombinant FGF10 (rFGF10) protein delivered intraperitoneally.

Potential Impact of Diabetes and Obesity on Alveolar Type 2 (AT2)-Lipofibroblast (LIF) Interactions After COVID-19 Infection.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a new emerging respiratory virus, caused evolving pneumonia outbreak around the world. In SARS-Cov-2 infected patients, diabetes mellitus (DM) and obesity are two metabolic diseases associated with higher severity of SARS-CoV-2 related complications, characterized by acute lung injury requiring assisted ventilation as well as fibrosis development in surviving patients. Different factors are potentially responsible for this exacerbated response to SARS-CoV-2 infection.

Validation of a Novel Knock-in Mouse Line Targeting FGF10 Cells Postnatally.

is a key gene during development, homeostasis and repair after injury. We previously reported a knock-in line (with the Cre-ERT2 cassette inserted in frame with the start codon of exon 1), called thereafter , to target FGF10 cells. While this line allowed fairly efficient and specific labeling of FGF10 cells during the embryonic stage, it failed to target these cells after birth, particularly in the postnatal lung, which has been the focus of our research.

Characterization in mice of the resident mesenchymal niche maintaining AT2 stem cell proliferation in homeostasis and disease.

Resident mesenchymal cells (rMCs defined as Cd31 Cd45 Epcam ) control the proliferation and differentiation of alveolar epithelial type 2 (AT2) stem cells in vitro. The identity of these rMCs is still elusive. Among them, Axin2 mesenchymal alveolar niche cells (MANCs), which are expressing Fgf7, have been previously described.

Fgf10 Signaling-Based Evidence for the Existence of an Embryonic Stage Distinct From the Pseudoglandular Stage During Mouse Lung Development.

The existence during mouse lung development of an embryonic stage temporally and functionally distinct from the subsequent pseudoglandular stage has been proposed but never demonstrated; while studies in human embryonic lung tissue fail to recapitulate the molecular control of branching found in mice. Lung development in mice starts officially at embryonic day (E) 9.5 when on the ventral side of the primary foregut tube, both the trachea and the two primary lung buds emerge and elongate to form a completely separate structure from the foregut by E10.

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.

Background: Inherited peripheral neuropathies (IPNs) are a group of neuropathies affecting peripheral motor and sensory neurons. Charcot-Marie-Tooth (CMT) disease is the most common disease in this group. With recent advances in next-generation sequencing (NGS) technologies, more than 100 genes have been implicated for different types of CMT and other clinically and genetically inherited neuropathies.

Targeting p16 Promotes Lipofibroblasts and Alveolar Regeneration after Early-Life Injury.

Promoting endogenous pulmonary regeneration is crucial after damage to restore normal lungs and prevent the onset of chronic adult lung diseases. To investigate whether the cell-cycle inhibitor p16 limits lung regeneration after newborn bronchopulmonary dysplasia (BPD), a condition characterized by the arrest of alveolar development, leading to adult sequelae. We exposed p16 and p16 (apoptosis through targeted activation of caspase 8) transgenic mice to postnatal hyperoxia, followed by pneumonectomy of the p16 mice.

Use of three-dimensional organoids and lung-on-a-chip methods to study lung development, regeneration and disease.

Differences in lung anatomy between mice and humans, as well as frequently disappointing results when using animal models for drug discovery, emphasise the unmet need for models that can complement animal studies and improve our understanding of human lung physiology, regeneration and disease. Recent papers have highlighted the use of three-dimensional organoids and organs-on-a-chip to mimic tissue morphogenesis and function Here, we focus on the respiratory system and provide an overview of these models, which can be derived from primary lung cells and pluripotent stem cells, as well as healthy or diseased lungs. We emphasise their potential application in studies of respiratory development, regeneration and disease modelling.

MicroRNA-142 is a multifaceted regulator in organogenesis, homeostasis, and disease.

Over the past decade, microRNA-142 (miR-142) is emerging as a major regulator of cell fate decision in the hematopoietic system. However, miR-142 is expressed in many other tissues, and recent evidence suggests that it may play a more pleiotropic role during embryonic development. In addition, miR-142 has been shown to play important functions in disease.

Evaluation of chromosomal aberrations caused by air pollutants in some taxi drivers from two polluted districts of urban Tehran and its comparison with drivers from rural areas of Lahijan: a pilot study.

Background: Chromosome instability is the most common form of genomic instability. Genomic instability can lead to tumorogenesis. High level of chromosomal aberrations in peripheral blood lymphocytes can be used as a biomarker for cancer.