Depression and anxiety one month after stroke

Depression and anxiety after stroke negatively affect patient outcomes; however, health care professionals may overlook poststroke depression and anxiety while they focus on the physical disabilities of patients soon after a stroke. The purpose of this study was to investigate the prevalence and predictors of depression, anxiety, or both concurrently at one month after stroke. We conducted a cross-sectional, descriptive study in a sample of 231 hospitalized patients with ischemic stroke in Korea. Data were collected by interviews using a series of structured questionnaires in addition to clinical data retrieved from patients’ medical records. More than 70% were identified as depressed, 45.9% experienced anxiety, and 43.7% had concurrent depression and anxiety. Using a multiple logistic regression analysis, we identified anxiety as a predictor of depression; depression as a predictor of anxiety; and female sex, headaches, and swallowing difficulty as predictors of the comorbidity of depression and anxiety. Periodical screenings for poststroke depression and anxiety from an early stage in a hospital to years after stroke in a community are recommended to provide better chances for early identification of patients at risk because depression and anxiety may manifest at any stage of recovery. Special attention should be given to individuals with culture-bound somatic symptoms in addition to female patients and those who have difficulty swallowing among Korean stroke patients

Facilitators of and barriers to emergency medical service use by acute ischemic stroke patients: A retrospective survey

Objective: The objective of the study was to identify facilitators and barriers to emergency medical service use among acute ischemic stroke patients in Korea. Methods: This paper presents a secondary analysis of a retrospective survey that collected data from questionnaires and medical records. Among 233 acute ischemic stroke patients enrolled in a large-scale study, 160 patients who had arrived at a hospital within 72 h after symptom onset were included in the data analysis. Results: Users of emergency medical services needed a shorter time than non-users to arrive at hospital (140 min vs. 625 min., p = 0.001) and were more likely to arrive at hospital within 3 h of symptom onset (51.9% vs. 31.5%, p = 0.013). For those who first contacted emergency medical service, the facilitators of emergency medical service use were the presence of hemiparesis (p = 0.003), bilateral paralysis (p = 0.040), and loss of balance (p = 0.021). The predominant barrier was the failure to recognize the urgency of symptoms (p = 0.006). Conclusions: The use of emergency medical services reduced prehospital delay and increased the likelihood of patient arrival at hospital within 3 h. Given that experiencing typical stroke symptoms was a facilitator of emergency medical service use yet failure to recognize the urgency of symptoms was a barrier, public awareness should be raised as regards stroke symptoms and the benefits of using emergency medical services. Keywords: Barrier, Emergency medical services, Facilitator, Social norms, Strok

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases

Despite recent advancements in our understanding of genetic etiology and its molecular and physiological consequences, it is not yet clear what genetic features determine the inheritance pattern of a disease. To address this issue, we conducted whole exome sequencing analysis to characterize genetic variants in 1,180 Korean patients with neurological symptoms. The diagnostic yield for definitive pathogenic variant findings was 50.8%, after including 33 cases (5.9%) additionally diagnosed by reanalysis. Of diagnosed patients, 33.4% carried inherited variants. At the genetic level, autosomal recessive-inherited genes were characterized by enrichments in metabolic process, muscle organization and metal ion homeostasis pathways. Transcriptome and interactome profiling analyses revealed less brain-centered expression and fewer protein-protein interactions for recessive genes. The majority of autosomal recessive genes were more tolerant of variation, and functional prediction scores of recessively-inherited variants tended to be lower than those of dominantly-inherited variants. Additionally, we were able to predict the rates of carriers for recessive variants. Our results showed that genes responsible for neurodevelopmental disorders harbor different molecular mechanisms and expression patterns according to their inheritance patterns. Also, calculated frequency rates for recessive variants could be utilized to pre-screen rare neurodevelopmental disorder carriers.N

DataSheet2_Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.xlsx

Despite recent advancements in our understanding of genetic etiology and its molecular and physiological consequences, it is not yet clear what genetic features determine the inheritance pattern of a disease. To address this issue, we conducted whole exome sequencing analysis to characterize genetic variants in 1,180 Korean patients with neurological symptoms. The diagnostic yield for definitive pathogenic variant findings was 50.8%, after including 33 cases (5.9%) additionally diagnosed by reanalysis. Of diagnosed patients, 33.4% carried inherited variants. At the genetic level, autosomal recessive-inherited genes were characterized by enrichments in metabolic process, muscle organization and metal ion homeostasis pathways. Transcriptome and interactome profiling analyses revealed less brain-centered expression and fewer protein-protein interactions for recessive genes. The majority of autosomal recessive genes were more tolerant of variation, and functional prediction scores of recessively-inherited variants tended to be lower than those of dominantly-inherited variants. Additionally, we were able to predict the rates of carriers for recessive variants. Our results showed that genes responsible for neurodevelopmental disorders harbor different molecular mechanisms and expression patterns according to their inheritance patterns. Also, calculated frequency rates for recessive variants could be utilized to pre-screen rare neurodevelopmental disorder carriers.</p

DataSheet1_Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.docx

Despite recent advancements in our understanding of genetic etiology and its molecular and physiological consequences, it is not yet clear what genetic features determine the inheritance pattern of a disease. To address this issue, we conducted whole exome sequencing analysis to characterize genetic variants in 1,180 Korean patients with neurological symptoms. The diagnostic yield for definitive pathogenic variant findings was 50.8%, after including 33 cases (5.9%) additionally diagnosed by reanalysis. Of diagnosed patients, 33.4% carried inherited variants. At the genetic level, autosomal recessive-inherited genes were characterized by enrichments in metabolic process, muscle organization and metal ion homeostasis pathways. Transcriptome and interactome profiling analyses revealed less brain-centered expression and fewer protein-protein interactions for recessive genes. The majority of autosomal recessive genes were more tolerant of variation, and functional prediction scores of recessively-inherited variants tended to be lower than those of dominantly-inherited variants. Additionally, we were able to predict the rates of carriers for recessive variants. Our results showed that genes responsible for neurodevelopmental disorders harbor different molecular mechanisms and expression patterns according to their inheritance patterns. Also, calculated frequency rates for recessive variants could be utilized to pre-screen rare neurodevelopmental disorder carriers.</p