Asociación de funcionalidad y salud familiar con COVID-19 en familias de la ciudad de Veracruz, México

RESUMEN Introducción. La salud familiar involucra al individuo, la familia y la sociedad en interacción reciproca por lo que la pandemia de COVID-19 puede constituir un factor que altere su integración y cumplimiento de funciones. Objetivo. Determinar la asociación de COVID-19 con alteraciones de la salud y funcionalidad familiar. Metodología. Encuesta transversal analítica en derechohabientes del Hospital Naval de Especialidades de Veracruz. Se aplicó cuestionario de factores sociodemográficos y clínicos, instrumento de autopercepción de salud familiar y APGAR familiar. Se efectuó inferencia estadística y se calcularon razón de momios e intervalos de confianza de 95%. Resultados. Se incluyeron 382 individuos; 5 (1.3%) eran familias extensas, 35 (9.2%) monoparentales, 297 (77.7%) nucleares, 18 (4.7%) nucleares ampliadas y 27 (7.1%) reconstituidas. Enfermaron de COVID-19 280 (73.3%) pacientes de los cuáles en 13 (4.6%) se estableció mala salud familiar y 82 (29.3%) disfunción leve o severa comparado con 6 (5.9%) y 26 (25.5%) de las familias sin COVID-19, (p > 0.05). Conclusiones. Tres cuartas partes de las familias encuestadas presentaron casos de COVID-19; sin embargo, la frecuencia de alteraciones de la salud y funcionalidad familiar fue baja durante pandemia de COVID-19. Familias con la enfermedad presentaron mayor alteración de clima, integración, funcionalidad y afrontamiento

Knigth's Move in the Periodic Table, From Copper to Platinum, Novel Antitumor Mixed Chelate Copper Compounds, Casiopeinas, Evaluated by an in Vitro Human and Murine Cancer Cell Line Panel

We synthesized a novel anticancer agents based on mixed chelate copper (II) complexes, named Casiopeínas® has of general formula [Cu(N-N)(N-O)H2O]NO3 (where, N-N = diimines as 1,10- phenanthroline, 2,2-bipyridine, or substituted and N-O=aminoeidate or [Cu(N-N)(O-O)H2O]NO3 (where NN= diimines as 10-phenanthroline, 2,2-bipyridine or substituted Casiopeínas I, II, IV, V, VI, VII VIII and O-O=acetylacetonate, salicylaldehidate Casiopínas III). We evaluated the in vitro antitumor activity using a human cancer cell panel and some nurine cancer cells. Eleven Casiopeinas are evaluated in order to acquire some structure-activity correlations and some monodentated Casiopeinäs analogues; cisplatinum was used as control drug. The 50% growth inhibition observed is, in all cases reach with concentrations of Casiopeina's 10 or 100 times lower than cisplatinum. In a previous work we reported the induction of apoptosis by Casiopeina II. The results indicate that Casiopeinass are a promising new anticancer drug candidates to be developed further toward clinical trials

Correlation of Knowledge of Biosafety Measures with Their Compliance in Surgical Nursing Staff

Las medidas de bioseguridad son el conjunto de principios y técnicas para impedir la exposición accidental a toxinas o agentes biológicos promotores de riesgos a la salud. Se realizó estudio en personal de enfermería quirúrgica de un hospital de tercer nivel de atención para determinar la correlación del nivel de conocimiento sobre medidas de bioseguridad con su cumplimiento. Se aplicaron instrumento validado para evaluar nivel de conocimientos y lista de cotejo de indicadores de bioseguridad para determinar su cumplimiento; el análisis estadístico incluyó prueba de correlación de Pearson, Chi cuadrada, t de Student y U de Mann-Whitney. Se incluyeron 55 individuos con edad de 36.9 ± 5.5 años, 29 (52.7%) categoría de especialistas y 5.6 ± 5.6 años de antigüedad en área quirúrgica. Nivel de conocimiento fue alto en 43 (78.2%) y el de cumplimiento bajo o insuficiente en 44 (80.0%). No hubo diferencias estadísticamente significativas en variables sociodemográficas y laborales entre los grupos con alto y bajo cumplimiento (p > 0.05) y la correlación entre conocimiento y cumplimiento fue rs = 0.117. Se concluye que el personal de enfermería quirúrgica tiene nivel de conocimiento sobre medidas de bioseguridad alto y nivel de cumplimiento bajo con correlación positiva débil.Biosecurity measures are the set of principles and techniques to prevent accidental exposure to toxins or biological agents that promote health risks. A study was carried out on surgical nursing staff of a tertiary care hospital to determine the correlation of the level of knowledge about biosafety measures with their compliance. A validated instrument was used to assess the level of knowledge and a checklist of biosafety indicators to determine compliance; the statistical analysis included Pearson's correlation test, Chi-square, Student's t-test, and Mann-Whitney's U. A total of 55 individuals aged 36.9 ± 5.5 years, 29 (52.7%) were specialists and 5.6 ± 5.6 years of experience in the surgical area were included. Level of knowledge was high in 43 (78.2%) and low or insufficient compliance in 44 (80.0%). There were no statistically significant differences in sociodemographic and labor variables between the groups with high and low compliance (p > 0.05) and the correlation between knowledge and compliance was rs = 0.117. It is concluded that surgical nurses have a high level of knowledge about biosecurity measures and a low level of compliance with a weak positive correlation

The Impact Of Rituximab Infusion Protocol On The Long-term Outcome In Anti-musk Myasthenia Gravis

Objective: To evaluate whether the clinical benefit and relapse rates in anti-muscle-specific kinase (MuSK) myasthenia gravis (MG) differ depending on the protocol of rituximab followed. Methods: This retrospective multicentre study in patients with MuSK MG compared three rituximab protocols in terms of clinical status, relapse, changes in treatment, and adverse side effects. The primary effectiveness endpoint was clinical relapse requiring a further infusion of rituximab. Survival curves were estimated using Kaplan-Meier methods and survival analyses were undertaken using Cox proportional-hazards models. Results: Twenty-five patients were included: 11 treated with protocol 4 + 2 (375 mg/m(2)/4 weeks, then monthly for 2 months), five treated with protocol 1 + 1 (two 1 g doses 2 weeks apart), and nine treated with protocol 4 (375 mg/m(2)/4 weeks). Mean follow-up was 5.0 years (SD 3.3). Relapse occurred in 18.2%, 80%, and 33.3%, and mean time to relapse was 3.5 (SD 1.5), 1.1 (SD 0.4), and 2.5 (SD 1.4) years, respectively. Based on Kaplan-Meier estimates, patients treated with protocol 4 + 2 had fewer and later relapses than patients treated with the other two protocols (log-rank test P = 0.0001). Patients treated with protocol 1 + 1 had a higher risk of relapse than patients treated with protocol 4 + 2 (HR 112.8, 95% CI, 5.7-2250.4, P = 0.002). Patients treated with protocol 4 showed a trend to a higher risk of relapse than those treated with protocol 4 + 2 (HR 9.2, 95% CI 0.9-91.8, P = 0.059). InterpretationThis study provides class IV evidence that the 4 + 2 rituximab protocol has a lower clinical relapse rate and produces a more durable response than the 1 + 1 and 4 protocols in patients with MuSK MG

Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

Mutations in the GDAP1 gene can cause Charcot-Marie-Tooth disease. These mutations are quite rare in most Western countries but not so in certain regions of Spain or other Mediterranean countries. This cross-sectional retrospective multicenter study analyzed the clinical and genetic characteristics of patients with GDAP1 mutations across Spain. 99 patients were identified, which were distributed across most of Spain, but especially in the Northwest and Mediterranean regions. The most common genotypes were p.R120W (in 81% of patients with autosomal dominant inheritance) and p.Q163X (in 73% of autosomal recessive patients). Patients with recessively inherited mutations had a more severe phenotype, and certain clinical features, like dysphonia or respiratory dysfunction, were exclusively detected in this group. Dominantly inherited mutations had prominent clinical variability regarding severity, including 29% of patients who were asymptomatic. There were minor clinical differences between patients harboring specific mutations but not when grouped according to localization or type of mutation. This is the largest clinical series to date of patients with GDAP1 mutations, and it contributes to define the genetic distribution and genotype-phenotype correlation in this rare form of CMT

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

<p>Abstract</p> <p>Background</p> <p>Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the <it>SPAST </it>(<it>SPG4</it>) and <it>ATL1 </it>(<it>SPG3A</it>) genes would account for about 50% of the ADHSP cases.</p> <p>Methods</p> <p>We defined the <it>SPAST </it>and <it>ATL1 </it>mutational spectrum in a total of 370 unrelated HSP index cases from Spain (83% with a pure phenotype).</p> <p>Results</p> <p>We found 50 <it>SPAST </it>mutations (including two large deletions) in 54 patients and 7 <it>ATL1 </it>mutations in 11 patients. A total of 33 of the <it>SPAST </it>and 3 of the <it>ATL1 </it>were new mutations. A total of 141 (31%) were familial cases, and we found a higher frequency of mutation carriers among these compared to apparently sporadic cases (38% vs. 5%). Five of the <it>SPAST </it>mutations were predicted to affect the pre-mRNA splicing, and in 4 of them we demonstrated this effect at the cDNA level. In addition to large deletions, splicing, frameshifting, and missense mutations, we also found a nucleotide change in the stop codon that would result in a larger ORF.</p> <p>Conclusions</p> <p>In a large cohort of Spanish patients with spastic paraplegia, <it>SPAST </it>and <it>ATL1 </it>mutations were found in 15% of the cases. These mutations were more frequent in familial cases (compared to sporadic), and were associated with heterogeneous clinical manifestations.</p

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, we identified a missense mutation in 1 (protein O -glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. In vitro and in vivo experiments demonstrated that the mutation reduces O -glucosyltransferase activity on Notch and impairs muscle development. Muscles from patients revealed decreased Notch signaling, dramatic reduction in satellite cell pool and a muscle-specific α-dystroglycan hypoglycosylation not present in patients' fibroblasts. Primary myoblasts from patients showed slow proliferation, facilitated differentiation, and a decreased pool of quiescent 7 + cells. A robust rescue of the myogenesis was demonstrated by increasing Notch signaling. None of these alterations were found in muscles from secondary dystroglycanopathy patients. These data suggest that a key pathomechanism for this novel form of muscular dystrophy is Notch-dependent loss of satellite cells

Efficacy of a church-based lifestyle intervention programme to control high normal blood pressure and/or high normal blood glucose in church members: a randomized controlled trial in Pretoria, South Africa

BACKGROUND: In persons 15 years and above in South Africa the prevalence of pre-diabetes and diabetes has been estimated at 9.1% and 9.6%, respectively, and the prevalence of systolic prehypertension and hypertension, 38.2% and 24.6%, respectively. Elevated blood glucose and elevated blood pressure are prototype of preventable chronic cardiovascular disease risk factors. Lifestyle interventions have been shown to control high normal blood pressure and/or high normal blood glucose. METHODS/DESIGN: This study proposes to evaluate the efficacy of a community (church)-based lifestyle intervention programme to control high normal blood pressure and/or high normal blood glucose in church members in a randomized controlled trial in Gauteng, South Africa. The objectives are to: (1) measure non-communicable diseases profile, including hypertension and diabetes, health behaviours, weight management and psychological distress of church members; (2) measure the reduction of blood glucose and blood pressure levels after the intervention; (3) prevent the development of impaired glucose tolerance; (4) compare health behaviours, weight management and psychological distress, blood glucose and blood pressure levels between intervention and control groups, and within group during 6, 12, 24 and 36 months during and post intervention. The study will use a group-randomized design, recruiting 300 church members from 12 churches. Churches will be randomly assigned to experimental and control conditions. DISCUSSION: Lifestyle interventions may prevent from the development of high blood pressure and/or diabetes. The findings will impact public health and will enable the health ministry to formulate policy related to lifestyle interventions to control blood pressure and glucose. TRIAL REGISTRATION NUMBER: PACTR20110500029715

Estudio prospectivo del síndrome de debilidad muscular aguda en la enfermedad crítica

FUNDAMENTO: Durante la enfermedad crítica puede aparecer un síndrome de debilidad muscular causado por una degeneración axonal de los nervios periféricos, un bloqueo neuromuscular farmacológico o una miopatía. OBJETIVOS. 1)Determinar la incidencia de debilidad muscular en los enfermos críticos. 2) Detectar que factores están relacionados con el desarrollo de la misma. 3)Estudiar la influencia del estado de gravedad en la función neuromuscular.4)Delimitar el síndrome de debilidad muscular en sus características clínicas, neurofisiológicas e histopatologías. PACIENTES Y MÉTODO: Estudio prospectivo y consecutivo de una serie de pacientes con puntuación en la escala APACHE II de 10 o más el día del ingreso en la UCI y 6 días después. Se estudiaron la exploración neurológica, examen neurofisiológico de nervio y músculo y determinaciones analíticas en 3 momentos del ingreso, y estudio histopatológico de nervio y músculo. RESULTADOS: De los 67 enfermos estudiados 33(49,25%) presentaron debilidad muscular. La incidencia aumentó al 66,6% en los enfermos con fracaso en la función de 3 o más órganos o sistemas. En 15 enfermos (22,4%) se detectó una mononeuropatía peroneal. En el 91% de los enfermos las alteraciones aparecieron antes del décimo día de ingreso. Los enfermos con debilidad muscular tuvieron una puntuación mayor en la escala APACHE II, mayor proporción de fallo multiorgánico, de dependencia de la ventilación mecánica y de fracaso en el destete y mayor mortalidad. Dos biopsias de nervio mostraron degeneración axonal y 4 fueron normales. En las biopsias musculares encontramos atrofia neurógena en 3 pacientes y signos de miopatía en 8, en 2 pacientes coincidieron ambos patrones. Los enfermos con miopatía y los enfermos con neuropatía no se diferenciaron en sus características clínicas ni neurofisiológicas. CONCLUSIONES: la debilidad muscular en la enfermedad crítica aparece de forma precoz, afecta a la mi

Biomarkers for amyotrophic lateral sclerosis (ALS)

La presente invención está dirigida al uso de los gens/es MyD88y/o TL3 para el diagnóstico, pronóstico y/o seguimiento de la esclerosis lateral amiotrófica (ELA), a un método de obtención de datos útiles para el diagnóstico, pronóstico y/o seguimiento de la ELA, kit o dispositivo y usos.The invention relates to the use of the gene(s) MyD88 and/or TL3 for the diagnosis, prognosis and/or monitoring of amyotrophic lateral sclerosis (ALS), to the method for obtaining useful data for the diagnosis, prognosis and/or monitoring of ALS, and to a kit or device and uses thereofEspañ