Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness, decline in quality of life, and premature mortality. This study aims to evaluate the perceived healthcare experience DMD patients their caregivers Mexico, comparing governmental non-profit institutions using newly designed assessment instrument. In cross-sectional study, data were gathered from 91 participants through an online self-administered questionnaire informed Donabedian model six...

Non-invasive biological indicators of the absence/presence or progress disease that could be used to support diagnosis and evaluate effectiveness treatment are utmost importance in Duchenne Muscular Dystrophy (DMD). This neuromuscular disorder affects male children, causing weakness disability, whereas female relatives at risk being carriers disease. A biomarker with both high sensitivity specificity for accurate prediction is preferred. Until now creatine kinase (CK) levels have been DMD...

Suicide is considered a public health problem that affects families worldwide. Family functioning the capability of family system to fulfill needs during stages its development. In this study, we focused on evaluating cohesion and adaptability in group adolescents who had attempted suicide were hospitalized at hospital for mental disorders, compared control group. Methods: based Olson’s circumplex model, used FACES III scale gain insights into both suicidal groups. Results: The case...

The muscular dystrophies (MDs) result from perturbations in the myofibers. These alterations are induced part by mechanical stress due to membrane cell fragility, disturbances mechanotransduction pathways, muscle physiology, and metabolism.We analyzed 290 biopsies of patients with a clinical diagnosis dystrophy. Using immunofluorescence staining, we searched for primary secondary deficiencies 12 different proteins, including membrane, costamere, cytoskeletal, nuclear proteins. In addition,...

Background: The development of skills, behaviors and attitudes regarding patient safety is utmost importance for promoting culture the next generation health professionals. This study describes our experience implementing a course on quality improvement fourth year medical students in Mexico during COVID-19 outbreak. comprised essential knowledge based curriculum provided by WHO. We also explored perceptions safety. Methods: Fourth completed questionnaire knowledge, care. was voluntarily...

Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease characterized by progressive muscle wasting and weakness. Some of the molecular therapies, such as exon skipping, stop codon read-through internal ribosome entry site-mediated translation rely on type location mutations. Hence, their potential applicability worldwide depends mutation frequencies within populations. In view this, we compared profiles...

The Asn118Asn (rs11615) variant in the ERCC1 gene, and Lys751Gln (rs13181) Asp312Asn (rs1799793) variants ERCC2 gene have been associated with development of varied types cancer. aim present study was to test for any association between three different cancer Mexican-mestizo patients. Patients their respective controls were formed into groups: osteosarcoma group, 28 patients 97 controls; colorectal 108 119 breast 71 74 controls. Genotyping performed using TaqMan probes quantitative...

Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disorder in which the detection of female carriers utmost importance for genetic counseling. Haplotyping with polymorphic markers and quantitation creatine kinase levels (CK) allow tracking at-risk haplotype evidence muscle damage, respectively. Such approaches are useful carrier cases unknown mutations. The lack informative inaccuracy CK affect detection. Therefore, herein we designed novel mini-STR (Short Tandem Repeats) assays...

Duchenne muscular dystrophy (DMD) is a severe neuromuscular disease of genetic origin that affects male children. It characterized by progressive muscle deterioration which results in the patient becoming wheelchair-dependent until death from cardio-respiratory complications. A few years ago, DMD patients' life quality and expectancy were poor treatment options limited; valuable recommendations significantly delay progress improve patient's have been brought about recently. Numerous...

Genetic variants that confer susceptibility to Parkinson's disease (PD) show unbalanced distribution among different populations; genetic predisposition either familial or sporadic forms of PD in Mexican-mestizo population has not been comprehensively studied. The aim the present study was analyze six PARK genes patients. In total 381 individuals (173 patients, 208 controls) were genotyped for p.Gly2019Ser and p.Gly2385Arg LRRK2. variant two patients one healthy control; found. a subgroup...

Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) have been associated with diastolic blood pressure, hypertension, and other cardiovascular diseases; however, results these studies are still controversial. In this study, we sought to determine whether 2 functional variants (rs1801133 rs13306560) within the MTHFR hypertension in Mexican-Mestizos.We performed a case-control study 1214 subjects including adults children test for association both single nucleotide polymorphisms...

Chromatin in cervical cancer (CC) undergoes chemical and structural changes that alter the expression pattern of genes.Recently, a potential mechanism, which regulates gene at transcriptional levels is proteolytic clipping histone H3.However, until now this process CC has not been reported.Using HeLa cells as model human samples from patients with CC, we identify H3 cleavage was lower compared control tissue.Additionally, performed by serine aspartyl proteases cells.These results suggest...

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA García S, Coral-Vázquez R, Gallegos-Arreola M, et al. Original paperAssociation of the rs1801133 variant in MTHFR gene and sporadic Parkinson’s disease. Folia Neuropathologica. 2015;53(1):24-28. doi:10.5114/fn.2015.49971. APA García, S., Coral-Vázquez, R., Gallegos-Arreola, M., Montes-Almanza, L., Canto, P., & García-Martínez, F. (2015). Neuropathologica, 53(1), 24-28. https://doi.org/10.5114/fn.2015.49971...

INTRODUCTION. Dystrophinopathies are X-linked genetic disorders caused by mutations in the DMD gene. Genetic tests of utmost importance for management and counseling these diseases. However, complexity gene is a challenge diagnosis. AIM. To describe recent advances diagnosis dystrophinopathies, after 20 years since firsts molecular assays screening DEVELOPMENT. Currently, variety strategies such as automated mutation detection, cell-based methods high throughput haplotyping have been...

Duchenne muscular dystrophy (DMD) is a genomic disorder characterized by progressive muscle wasting and weakness due to the absence or abnormal function of dystrophin; protein that protects cells from mechanical induced stress during contraction. Mutations in DMD gene, may lead different clinical phenotypes, collectively known as dystrophinopathies, which has earliest onset most severe progression.We report novel deletion exons 24-41, predicted maintain reading frame expected result mild...

Sporadic Parkinson's disease (PD) is a neurodegenerative disorder of unknown etiology. In recent years, it has been established that genetic component underlies different forms the disease. For instance, mitochondrial genome variants have implicated in pathogenesis PD.To determine association tRNA(Gln) 4336 and 8701A>G (ATP6: Thr59Ala) DNA polymorphisms with presence PD Mexican mestizo patients.This was cross-sectional study which patients were recruited from four tertiary-care level...

Muscular dystrophies are a group of well-defined genetic disorders characterized by the variable distribution muscle wasting and progressive weakness. The diagnosis treatment these diseases remain challenging due to heterogeneity clinical overlapping. Herein, we describe our 10 years' experience with management muscular dystrophy patients. In total, 169 patients were screened for pathogenic variants in eleven genes linked frequent using MLPA NGS sequencing panels. Most found Mexican...

Among the candidate genes for Parkinson's disease (PD), SNCA has replicated association in different populations. Besides other known mutations gene, rs3857059 variant also been linked to various neurodegenerative disorders. Therefore, aim of present study was search this and sporadic PD Mexican Mestizo patients. A case-control performed including 241 individuals, 106 patients, 135 healthy controls. Genotyping using real-time PCR. The demonstrated an with Mestizos (OR = 2.40, CI, 1.1 5.1, p...

Rare diseases (RDs) are serious and often fatal uncommon conditions with a high subjacent genetic origin. Since RD not prevalent, knowledge regarding these among health care providers students is scarce. The management of inadequate precarious. Therefore, the aim present study to assess degree knowledge, perceptions attitudes healthcare practitioners in Mexico. Herein we reliable questionnaire perceptions, awareness Mexico regard RDs. pilot showed satisfactory levels significant differences groups.

Duchenne muscular dystrophy is a severe, debilitating and progressive disease that affects 1 in 3,500 live male births the world. The diagnosis should be confirmed by genetic testing to identify mutation DMD gene or muscle biopsy immunostaining demonstrate absence of dystrophin. Although up now continues an incurable disease, this does not mean it has no treatment. Treatment multidisciplinary, looking for functionality patient avoiding correcting complications, mainly cardio-respiratory...