Pharmacological Treatments and Therapeutic Targets in Muscle Dystrophies Generated by Alterations in Dystrophin-Associated Proteins.

Muscular dystrophies (MDs) are a heterogeneous group of diseases of genetic origin characterized by progressive skeletal muscle degeneration and weakness. There are several types of MDs, varying in terms of age of onset, severity, and pattern of the affected muscles. However, all of them worsen over time, and many patients will eventually lose their ability to walk.

Environmental and Genetic Risk Factors in Developmental Dysplasia of the Hip for Early Detection of the Affected Population.

Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs).

COMT and SCN9A gene variants do not contribute to chronic low back pain in Mexican-Mestizo patients.

Background: Chronic low back pain (CLBP) is a complex condition in which genetic factors play a role in its susceptibility. Catechol-O-methyltransferase (COMT) and sodium channel NaV1.7 (SCN9A) genes are implicated in pain perception.

Identification of Genetic Variants for Diabetic Retinopathy Risk Applying Exome Sequencing in Extreme Phenotypes.

Background: Diabetic retinopathy (DR) risk has been shown to vary depending on ethnic backgrounds, and thus, it is worthy that underrepresented populations are analyzed for the potential identification of DR-associated genetic variants. We conducted a case-control study for the identification of DR-risk variants in Mexican population.

Methods: We ascertained 60 type 2 diabetes mellitus (T2DM) patients.

Epigenetic Evaluation of the Gene and Environmental Risk Factors in Mexican Paediatric Patients with Congenital Septal Defects.

The gene has a key role during cardiogenesis, and it has been related to epigenetic mechanisms in congenital heart disease (CHD). The purpose of this study was to assess the association between DNA methylation status and congenital septal defects. The DNA methylation of seven CpG sites in the gene promoter was analyzed through pyrosequencing as a quantitative method in 48 patients with congenital septal defects and 104 individuals with patent ductus arteriosus (PDA).

The High Clinical Burden of Erosive Hand Osteoarthritis is Associated with Clinical Findings, Pain, and Radiographic Severity.

Unlabelled: Varying reports exist on the clinical impact of erosive hand osteoarthritis (EHOA) in terms of pain and articular function. Few studies have assessed the association of a patient's clinical features with the presence of more severe radiographic disease. The aim was to evaluate clinical and radiographic characteristics in EHOA comparing with non-erosive (NEHOA); to examine pain and functional impairment between EHOA and NEHOA; and correlate functional impairment with clinical findings, pain, and radiographic severity.

DNA Methylation Levels of the Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients.

The gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD). The aim of this research was to evaluate the association between DNA methylation levels of the gene promoter and congenital septal defects. DNA methylation levels of six CpG sites in the gene promoter were evaluated using pyrosequencing analysis in 35 patients with congenital septal defects and 48 controls.

Epistasis Between Two Gene Variants of Leptin and Vascular Endothelial Growth Factor Genes in the Development of Primary Knee Osteoarthritis.

Background: The association of leptin () and vascular endothelial growth factor A () genes with the susceptibility to knee osteoarthritis (OA) has been analyzed; however, the epistasis between them has not been investigated.

Objective: The objective of the study was to analyze the association of and variants and their interaction with primary knee OA in a Mexican Mestizo population.

Methods: A case-control study was developed.

Effect of whole-body vibration training on transcutaneous oxygen levels of the foot in patients with type 2 diabetes: A randomized controlled trial.

Whole body vibration (WBV) has been suggested as improving skin and blood flow. This study aimed to determine the effect of exposure to WBV on levels of partial transcutaneous oxygen pressure (TcPO2) in the foot of patients with type 2 diabetes (T2D) within the metabolic control goals. A block randomized, open, two-arm, parallel and controlled clinical trial was conducted.

Genetic analysis of muscular dystrophies: our experience in Mexico.

Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution of muscle wasting and progressive weakness. The diagnosis and treatment of these diseases remain challenging due to genetic heterogeneity and clinical overlapping. Herein, we describe our 10 years' experience with the diagnosis and management of muscular dystrophy patients.

The High Clinical Burden of Erosive Hand Osteoarthritis is Associated with Clinical Findings, Pain, and Radiographic Severity.

Unlabelled: Varying reports exist on the clinical impact of erosive hand osteoarthritis (EHOA) in terms of pain and articular function. Few studies have assessed the association of a patient's clinical features with the presence of more severe radiographic disease. The aim was to evaluate clinical and radiographic characteristics in EHOA comparing with non-erosive (NEHOA); to examine pain and functional impairment between EHOA and NEHOA; and correlate functional impairment with clinical findings, pain, and radiographic severity.

Are functional variants of the microRNA-146a gene associated with primary knee OA? Evidence in Mexican mestizo population.

MicroRNA-146a (miR-146a) is an inflammatory response regulator whose expression is deregulated in osteoarthritis (OA); variations in the miR-146a gene could affect OA risk. This study aimed to analyze the association between two functional variants of the miR-146a gene and primary knee OA in Mexican mestizo population. Methods and Results.

Genetic Variants and Haplotypes in Gene Are Associated with Premature Coronary Artery Disease and Traditional Cardiovascular Risk Factors in Mexican Population: The GEA Study.

Basic and clinical research have demonstrated that osteoprotegerin (OPG) plays an important role in the development and progression of cardiovascular diseases. The aim of this study was to evaluate the association of four polymorphic sites (rs2073618, rs3134069, rs3134070, and rs3102735) of gene with premature coronary artery disease (pCAD), and with cardiometabolic parameters. The polymorphisms were genotyped using 5' exonuclease TaqMan genotyping assays with real-time PCR in 1098 individuals with pCAD and 1041 healthy controls.

Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.

Background: Biallelic variants in Anoctamin 5 (ANO5) gene are causative of limb-girdle muscular dystrophy (LGMD) R12 anoctamin5-related, non-dysferlin Miyoshi-like distal myopathy (MMD3), and asymptomatic hyperCKemia.

Objective: To describe clinic, histologic, genetic and imaging features, of ANO5 mutated patients.

Methods: Five patients, four from France (P1, P2, P3 and P4) and one from Mexico (P5), from four families were included.

Telomere length analysis on leukocytes derived from patients with Huntington Disease.

Introduction: Huntington´s disease (HD) is a neurodegenerative disorder characterized by neuropsychiatric, motor and cognitive manifestations. It is caused by expansion of the trinucleotide CAG on HTT. The molecular bases are not completely understood, DNA damage, such as double and single strand breaks and oxidative stress (OS) have been implicated.

Vitamin D receptor gene polymorphisms and susceptibility for primary osteoarthritis of the knee in a Latin American population.

Background: Primary Osteoarthritis (OA) of the knee is a multifactorial disease that has an important genetic component, and several genes have been associated with its development. The vitamin D receptor has a role in skeletal metabolism that suggests a relationship with OA. The aim of this study was to analyze the association of Vitamin D receptor gene (VDR) polymorphisms in Mexican Mestizo patients.

Hearing Aid Use and Auditory Verbal Therapy Improve Voice Quality of Deaf Children.

Background: Adequate phonation is self-regulated by auditory feedback. Children with bilateral profound hearing loss (PHL) lack this feedback resulting in abnormal voice. Adequate hearing aid use and auditory-verbal therapy (AVT) may improve voice quality in deaf children.

Genetic association analysis of Osteopontin and Matrix Gla Protein genes polymorphisms with primary knee osteoarthritis in Mexican population.

Primary osteoarthritis (OA) is a complex entity in which several loci related to different molecular pathways or classes of molecules are associated with its development as demonstrated through genetic association studies. Genes involved in bone formation and mineralization, such as osteopontin (OPN) and Matrix Gla protein (MGP), could also be related with OA. The aim of this study was to evaluate the association between the genetic variants of OPN and MGP with primary knee osteoarthritis in a Mexican population.

Association between promoter hypermethylation of the DACT2 gene and tumor stages in breast cancer.

Purpose: Aberrant methylation of CpG islands in the promoter is a hallmark of cancer, leading to transcriptional silencing of tumor suppressor genes. The aim of this work was to evaluate the promoter methylation status of the DACT2 gene in breast cancer (BC) tissue and to analyze its possible effect on tumor type or grade.

Methods: CpG island from the DACT2 promoter in region -240 to -14 from transcriptional start site (TSS) were obtained.

DNA Methylation in Osteoarthritis: Current Status and Therapeutic Implications.

Background: Primary Osteoarthritis (OA) is a multifactorial disease in which genetic factors are strongly associated with its development; however, recently it has been observed that epigenetic modifications are also involved in the pathogenesis of OA. DNA methylation is related to gene silencing, and several studies have investigated its role in the of different pathways or molecules associated to OA.

Objective: This review is focused on the current status of DNA methylation studies related to OA pathogenesis.

Fear-avoidance beliefs increase perception of pain and disability in Mexicans with chronic low back pain.

Background: Fear-avoidance beliefs are related to the prognosis of chronicity in low back pain in subacute stages, however in chronic pain, is no clear the influence of these factors; it has been suggested that the study population can determine the magnitude of influence on disability and pain of those suffering from back pain. Currently, information does not exist in the Mexican population.

Objective: To analyze the relationship between fear-avoidance beliefs with pain and disability in Mexicans with chronic low back pain; analyze potentials differences between subgroups according to the time of evolution.

Association of the IL6 rs1800796, but not of the IL6 rs1800795, IL6R rs4845617 and rs2228145 polymorphisms with hip fracture in elderly Mexican women.

Background And Aims: Polymorphisms in Interleukin-6 (IL6) and its receptor (IL6R) have been associated with bone mineral density. In this work, the G-174C and G-572C polymorphisms in IL6, G-208A, and Asp358Ala in IL6R were analyzed in Mexican women with hip fracture.

Methods: Postmenopausal Mexican women (60 years or over) with hip fragility fracture (77.