Search results for "insufficiency"
showing 10 items of 506 documents
Consenso Delphi sobre el diagnóstico y manejo de la dislipidemia en pacientes con enfermedad renal crónica: análisis post-hoc del estudio DIANA
2016
Resumen Antecedentes y objetivos: Este estudio post hoc analizó la percepción de la importancia de la enfermedad renal crónica (ERC) en el cribado de la dislipidemia y en la elección del tratamiento con estatinas entre médicos de Atención Primaria (MAP) y otras especialidades mediante cuestionario Delphi. Métodos: El cuestionario incluyó 4 bloques de preguntas alrededor del paciente dislipémico con alteración del metabolismo hidrocarbonado. Aquí se presentan los resultados relacionados con la consideración de la ERC en el cribado y la elección de la estatina. Resultados: De los 497 expertos incluidos, el 58% eran MAP y el 42%, especialistas (35, el 7%, nefrólogos). Hubo consenso en realizar…
Prediction of diabetes mellitus induced by steroid overtreatment in adrenal insufficiency
2022
AbstractTo assess the differences between patients with normal glucose tolerance (NGT) and prediabetes/diabetes mellitus (DM) in secondary adrenal insufficiency (SAI). We cross-sectionally evaluated 102, out of a total of 140, patients with SAI, who were on hydrocortisone (HC) (n = 50) and cortisone acetate (n = 52) replacement therapy. Clinical, anthropometric, and metabolic parameters were compared in patients with NGT (n = 60) and DM (n = 42). Patients with prediabetes/DM have a more marked family history of DM (p = 0.002), BMI (p < 0.001), higher waist circumference (p < 0.001), total cholesterol (p = 0.012), LDL-cholesterol (p = 0.004), triglycerides (p = 0.031), fasting glucose …
Developmental programming of adult haematopoiesis system
2019
The Barker hypothesis of ‘foetal origin of adult diseases’ has led to emphasize the concept of ‘developmental programming’, based on the crucial role of epigenetic factors. Accordingly, it has been demonstrated that parental adversity (before conception and during pregnancy) and foetal factors (i.e., hypoxia, malnutrition and placental insufficiency) permanently modify the physiological systems of the progeny, predisposing them to premature ageing and chronic disease during adulthood. Thus, an altered functionality of the endocrine, immune, nervous and cardiovascular systems is observed in the progeny. However, it remains to be understood whether the haematopoietic system itself also repres…
Proteomic signature of the Dravet syndrome in the genetic Scn1a-A1783V mouse model
2021
AbstractBackgroundDravet syndrome is a rare, severe pediatric epileptic encephalopathy associated with intellectual and motor disabilities. Proteomic profiling in a mouse model of Dravet syndrome can provide information about the molecular consequences of the genetic deficiency and about pathophysiological mechanisms developing during the disease course.MethodsA knock-in mouse model of Dravet syndrome with Scn1a haploinsufficiency was used for whole proteome, seizure and behavioral analysis. Hippocampal tissue was dissected from two-(prior to epilepsy manifestation) and four-(following epilepsy manifestation) week-old male mice and analyzed using LC-MS/MS with label-free quantification. Pro…
A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome.
2015
In genomic deletions, gene haploinsufficiency might directly configure a specific disease phenotype. Nevertheless, in some cases no functional association can be identified between haploinsufficient genes and the deletion-associated phenotype. Transcripts can act as microRNA sponges. The reduction of transcripts from the hemizygous region may increase the availability of specific microRNAs, which in turn may exert in-trans regulation of target genes outside the deleted region, eventually contributing to the phenotype. Here we prospect a competing endogenous RNA (ceRNA) approach for the identification of candidate genes target of epigenetic regulation in deletion syndromes. As a model, we an…
Putative Breast Cancer Driver Mutations in TBX3 Cause Impaired Transcriptional Repression
2015
The closely related T-box transcription factors TBX2 and TBX3 are frequently overexpressed in melanoma and various types of human cancers, in particular, breast cancer. The overexpression of TBX2 and TBX3 can have several cellular effects, among them suppression of senescence, promotion of epithelial–mesenchymal transition, and invasive cell motility. In contrast, loss of function of TBX3 and most other human T-box genes causes developmental haploinsufficiency syndromes. Stephens and colleagues (1), by exome sequencing of breast tumor samples, identified five different mutations in TBX3, all affecting the DNA-binding T-domain. One in-frame deletion of a single amino acid, p.N212delN, was ob…
4p16.1-p15.31 duplication and 4p terminal deletion in a 3-years old Chinese girl: Array-CGH, genotype-phenotype and neurological characterization
2014
Abstract Background Microscopically chromosome rearrangements of the short arm of chromosome 4 include the two known clinical entities: partial trisomy 4p and deletions of the Wolf-Hirschhorn critical regions 1 and 2 (WHSCR-1 and WHSCR-2, respectively), which cause cranio-facial anomalies, congenital malformations and developmental delay/intellectual disability. Methods/results We report on clinical findings detected in a Chinese patient with a de novo 4p16.1-p15.32 duplication in association with a subtle 4p terminal deletion of 6 Mb in size. This unusual chromosome imbalance resulted in WHS classical phenotype, while clinical manifestations of 4p trisomy were practically absent. Conclusio…
Perceived stress in relation to quality of life and resilience in patients with advanced chronic kidney disease undergoing hemodialysis
2021
Background: Patients with chronic kidney disease undergo various stages of therapeutic adaptation which involve lifestyle modifications, physical changes, and adjustment to renal replacement therapy. This process produces adaptive stress. Objective: To identify how resilience, health- related quality of life, and sociodemographic, clinical, and hemodialysis routine-related variables are related to perceived stress in patients with chronic kidney disease receiving hemodialysis for more than six months. Methods: This was a multicenter and cross-sectional study involving 144 patients from the Valencian Community (Spain). The assessment scales used for the study were the Perceived Stress Scale …
Handgrip strength and health outcomes: Umbrella review of systematic reviews with meta-analyses of observational studies
2020
Highlights • We carried out an umbrella review of systematic reviews with meta-analyses of observational studies on handgrip strength and all health outcomes. • Three outcomes (lower all-cause mortality, lower cardiovascular mortality, and lower risk of disability) were found to have highly suggestive evidence. • One outcome (chair rise performance over time) was found to have suggestive evidence. • Five outcomes (walking speed, inability to balance, hospital admissions, cardiac death, and mortality in those with chronic kidney disease) were found to have weak evidence.
Capacidade cognitiva de indivíduos com doença renal crônica: relação com características demográficas e clínicas
2013
Introdução: O comprometimento da cognição e memória (CM) é comum em indivíduos com Doença Renal Crônica (DRC) em hemodiálise, o que prejudica a aderência ao tratamento. Objetivo: Avaliar a capacidade cognitiva de indivíduos renais crônicos em hemodiálise por meio do Miniexame do Estado Mental (MEEM) e a relação com as características sociodemográficas e clínicas desses indivíduos. Métodos: Foram obtidas informações clínicas e sociodemográficas de 75 indivíduos. Para avaliação da MC, foi aplicado o MEEM, o qual foi analisado segundo os diversos pontos de corte propostos na literatura. Após classificar os participantes de acordo com as diferentes propostas e pelas causas da DRC, os indivíduos…