RESUMO
BACKGROUND: Caregiver burden is a serious global issue associated with the growing number of older adult patients with Alzheimer's disease (AD). AD patients become more dependent on their caregivers and require assistance with basic daily life activities. This study aims to measure the caregiver burden of informal caregivers of AD patients and to determine their characteristics. In addition, it intends to understand caregiver coping techniques and assess their medication knowledge. METHODS: This was a cross-sectional study including 148 informal caregivers mainly recruited by the Saudi Alzheimer's Disease Association (SADA). A four-part study questionnaire was used for data collection in the Arabic Language and included the following: socio-demographic characteristics of AD patients and their caregivers, the 12-item version of the Zarit Burden Interview (ZBI), and adapted questions on coping techniques and medication knowledge. RESULTS: A total of 148 caregivers (62% were female) participated in this study, and 79.06% were between 30 and 60 years old. The ZBI average score was 27, indicating a moderate to high burden. Caregivers reported their need for services to improve their quality of life. The medication knowledge was insufficient in most aspects except that more than half were aware of medications' side effects. CONCLUSION: Our study revealed that the average burden among informal caregivers of AD patients was moderate-high.
Assuntos
Doença de Alzheimer , Humanos , Feminino , Idoso , Adulto , Pessoa de Meia-Idade , Masculino , Cuidadores , Arábia Saudita , Qualidade de Vida , Estudos Transversais , Efeitos Psicossociais da DoençaRESUMO
The use of erythropoietin-stimulating agents (ESAs) as adjunctive therapy in critically ill patients with COVID-19 may have a potential benefit. This study aims to evaluate the effect of ESAs on the clinical outcomes of critically ill COVID-19 patients. A multicenter, retrospective cohort study was conducted from 01-03-2020 to 31-07-2021. We included adult patients who were ≥ 18 years old with a confirmed diagnosis of COVID-19 infection and admitted to intensive care units (ICUs). Patients were categorized depending on ESAs administration during their ICU stay. The primary endpoint was the length of stay; other endpoints were considered secondary. After propensity score matching (1:3), the overall included patients were 120. Among those, 30 patients received ESAs. A longer duration of ICU and hospital stay was observed in the ESA group (beta coefficient: 0.64; 95% CI: 0.31-0.97; P = < .01, beta coefficient: 0.41; 95% CI: 0.12-0.69; P = < .01, respectively). In addition, the ESA group's ventilator-free days (VFDs) were significantly shorter than the control group. Moreover, patients who received ESAs have higher odds of liver injury and infections during ICU stay than the control group. The use of ESAs in COVID-19 critically ill patients was associated with longer hospital and ICU stays, with no survival benefits but linked with lower VFDs.
Assuntos
COVID-19 , Eritropoetina , Adulto , Humanos , Adolescente , Estudos Retrospectivos , Estado Terminal , Eritropoetina/uso terapêutico , Tempo de Internação , Unidades de Terapia IntensivaRESUMO
PURPOSE: The purpose of this study is to uncover the genetic cause for non-syndromic macular "coloboma" (pseudocoloboma) in three brothers from a consanguineous family. METHODS: Homozygosity mapping for the three affected brothers and whole-exome sequencing in one affected brother, followed by confirmatory Sanger sequencing and segregation analysis of the candidate gene for all immediate family members; molecular modeling of the candidate mutation; and review of clinical, imaging, and laboratory findings. RESULTS: Three otherwise-healthy brothers (age 10, 10, and 6 years) had macular pseudocoloboma. Both parents and the fourth brother were not affected. Parents were first cousins. A novel homozygous missense variant in claudin 19 (CLND19: NM_148960.2:c. 263T>A; p.Val88Glu) segregated with the phenotype, and molecular modeling predicts an unfavorable effect to protein function. All prior reported biallelic CLND19 mutations cause symptomatic hypomagnesemia with hypercalciuria and nephrocalcinosis, often with concurrent macular pseudocoloboma. However, general physical assessment, metabolic profile, and renal imaging for the three affected brothers were normal. CONCLUSIONS: A homozygous CLDN19 mutation can cause macular pseudocoloboma without evidence for systemic disease in children. This is the first reported family with CLDN19 mutations to have an ocular phenotype only; however, those identified to harbor biallelic CLDN19 mutations should be considered at risk for the extraocular manifestations that have previously been associated with mutations in the gene.