Research progress on the correlation between genetic factors and sudden cardiac death in the elderly / 中华老年医学杂志

Sudden cardiac death(SCD)in the elderly is defined as a sudden accidental death in patients over 65 years of age within one hour of symptom onset or within 24 hours with no symptoms, possibly due to arrhythmia or abrupt hemodynamic changes.It is characterized by rapid onset, rapid progression, and high mortality.Sudden cardiac death in the elderly is the most serious clinical syndrome in elderly patients with heart disease.It accounts for more than 80% of all sudden death cases and is the cause of sudden death in the vast majority of elderly patients.Clinical methods for the detection of sudden cardiac death include mostly screening through family and personal history, physical examination, electrocardiogram analysis and echocardiography, but their drawbacks include lack specificity, low detection rates and relatively limited scenarios for their use.Genetic susceptibility is also responsible for sudden cardiac death.Genetic factors play an important role in the occurrence and development of sudden cardiac death.This review summarized the correlation between sudden death and genetic factors underlying different cardiovascular diseases, including the role of genetic polymorphisms in the occurrence of sudden cardiac death in older adults.

Reporte de una nueva mutación en Colombia: un paciente con síndrome de Kabuki / Report of a new mutation in Colombia in a patient with Kabuki Syndrome

RESUMEN Introducción: el síndrome de Kabuki es un desorden pediátrico congénito de origen genético. Los pacientes presentan anormalidades morfológicas como paladar hendido, globos oculares prominentes, eversión del tercio externo del párpado inferior, persistencia de cojinetes dactilares y anormalidades vertebrales. La mayoría cursan con dificultad del aprendizaje. Objetivo: reportar un caso pediátrico de síndrome de Kabuki y fomentar el reconocimiento del fenotipo asociado para facilitar su diagnóstico oportuno. Caso Clínico: paciente masculino de 9 años con características clínicas y diagnóstico genético probable para síndrome de Kabuki. Presenta fisuras palpebrales largas, paladar en ojival, baja implantación auricular, persistencia de almohadillas en pulpejos de dedos, talla baja y colangitis esclerosante primaria. Conclusión: el síndrome de Kabuki tipo 1, se caracteriza por alteraciones faciales que inducen una sospecha diagnóstica. El paciente reportado presentaba múltiples hallazgos descritos. En el estudio genético realizado se considera la variante identificada en el gen KMT2D, probablemente patogénica.

SUMMARY Introduction: Kabuki Syndrome is a pediatric congenital disorder of genetic origin. These patients present morphological abnormalities such as cleft palate, prominent eyeballs, persistence of fingerpads, and vertebral abnormalities. Most also have learning difficulty. Objective: Report a pediatric case of Kabuki Syndrome to increase the recognition of the phenotype associated with it and the likelihood of a diagnosis with the use of a clinical case report. Case report: A nine-year-old male patient with clinical characteristics and probable genetic diagnosis of Kabuki Syndrome. He exhibits elongated eyelids, cleft palate, low auricular implantation, persistence of fingerpads, reduced height, and primary sclerosing cholangitis. Conclusion: Diagnostic suspicion of type one Kabuki Syndrome is characterized mainly by facial alterations. The following patient presents multiple distinctive characteristics described in literature. A genetic study considers the gene KMT2D a possible pathologic genetic variant of the disease.

Consanguinity and Inbreeding Coefficient F in Aligarh city, India: A Cross Sectional Study

Objective: To determine the coefficient of inbreeding of consanguinity (F) and its correlates in Aligarh city, India. Material and Methods: Cross sectional household survey with a sample size of 2000 (1600 non-consanguineous and 400 consanguineous couples) using systematic random sampling. Researcher conducted the study by visiting every tenth household of every tenth ward of Aligarh city. Information was recorded on a pre-tested questionnaire, which had questions pertaining to religion, details regarding relationship between couples (consanguineous / non consanguineous marriage), type of consanguinity (first cousin/second cousin/third cousin), level of education and occupation (a proxy for socioeconomic status). Descriptive statistics, Chi-square, and multivariate logistic regression were used. Results: Multivariate logistic regression analysis showed that Islam (p<0.001) and Christianity (p<0.001) were significantly associated with consanguinity. Private employment with (-) B value (p<0.001) showed a significant association of the variable with non-consanguineous group. Coefficient of inbreeding for the present study was 0.0538, highest reported from any part of India. Conclusion: Consanguinity is a prevailing problem in Aligarh city, India. Evidence based guidelines needed. Information ­ education ­ communication and pre-marital counseling suggested to make population aware of the consequences of consanguinity and to help couples make a decision.

Leprosy: review of the epidemiological, clinical, and etiopathogenic aspects - Part 1

Leprosy is caused by Mycobacterium leprae and has been known since biblical times. It is still endemic in many regions of the world and a public health problem in Brazil. The prevalence rate in 2011 reached 1.54 cases per 10,000 inhabitants in Brazil. The mechanism of transmission of leprosy consists of prolonged close contact between susceptible and genetically predisposed individuals and untreated multibacillary patients. Transmission occurs through inhalation of bacilli present in upper airway secretion. The nasal mucosa is the main entry or exit route of M. leprae. The deeper understanding of the structural and biological characteristics of M. leprae, the sequencing of its genome, along with the advances in understanding the mechanisms of host immune response against the bacilli, dependent on genetic susceptibility, have contributed to the understanding of the pathogenesis, variations in the clinical characteristics, and progression of the disease. This article aims to update dermatologist on epidemiological, clinical, and etiopathogenic leprosy aspects.

De Gregor Mendel y la docencia sin licencia / Gregor Mendel: teaching without licence

Gregor Mendel, padre de la genética, fracasó en su intento por obtener la licenciatura que lo acreditara como profesor, pero su fracaso fue el origen de su posterior triunfo histórico. La fidelidad de Mendel hacia la defensa del preformismo fue la base de los experimentos en Pisum sativum. Su historia demuestra que la licencia no necesariamente certifica al verdadero maestro y que el buen maestro no requiere de licencia...

Gregor Mendel, father of Genetics, failed in his attempt to obtain an accredited degree as a teacher, but his failure was the origin of a subsequent historical triumph. Mendel’s faithfulness toward the defense of preformationism was the basis of the experiments in Pisum sativum. His history shows that the license does not necessarily certify the true master, and that the good teacher does not require licensing...

Relationship Between the Extent of Chromosomal Losses and the Pattern of CpG Methylation in Gastric Carcinomas

The extent of unilateral chromosomal losses and the presence of microsatellite instability (MSI) have been classified into high-risk (high- and baseline-level loss) and low-risk (low-level loss and MSI) stem-line genotypes in gastric carcinomas. A unilateral genome-dosage reduction might stimulate compensation mechanism, which maintains the genomic dosage via CpG hypomethylation. A total of 120 tumor sites from 40 gastric carcinomas were examined by chromosomal loss analysis using 40 microsatellite markers on 8 chromosomes and methylation analysis in the 13 CpG (island/non-island) regions near the 10 genes using the bisulfite-modified DNAs. The high-level-loss tumor (four or more losses) showed a tendency toward unmethylation in the Maspin, CAGE, MAGE-A2 and RABGEF1 genes, and the other microsatellite-genotype (three or fewer losses and MSI) toward methylation in the p16, hMLH1, RASSF1A, and Cyclin D2 genes (p<0.05). The non-island CpGs of the p16 and hMLH1 genes were hypomethylated in the high-level-loss and hypermethylated in the non-high-level-loss sites (p<0.05). Consequently, hypomethylation changes were related to a high-level loss, whereas the hypermethylation changes were accompanied by a baseline-level loss, a low-level loss, or a MSI. This indicates that hypomethylation compensates the chromosomal losses in the process of tumor progression.

Evidence and mechanisms of fetal origins of adult diseases / 北京大学学报(医学版)

This review focuses on the fetal origins of adult disease hypothesis put forward by David Barker and his colleagues,recent advances in epidemiological studies and experimental research in this field.Barker Hypothesis states that environmental factors,particularly intrauterine nutrition,as indicated by birth weight,operate in early life to program the risks for adverse health outcomes in adult life.A large growing body of reports described the association between the early development and adult diseases,such as diabetes,hypertension,coronary heart disease,abnormal lipids metabolism,obesity and cancer,etc.Experimental studies show that the changes of some key genes' expression,caused by epigenetic modifications,lead to a permanent alteration of cellular proliferation and differentiation and finally the genesis in key tissues and organs.These results bring about the impairment in structures and functions and the increased susceptibility to chronic diseases in adult life.The hypothesis provides a new perspective for the prevention and therapy of chronic diseases.