SAGE Open MedicinePub Date : 2024-10-11eCollection Date: 2024-01-01DOI: 10.1177/20503121241287073
Amanda K Hertel, William R Black, Ashley Lytch, Emily Cramer, Lindsey Malloy Walton, Jordan T Jones
{"title":"Cardiovascular, autonomic symptoms and quality of life in children with hypermobile Ehlers-Danlos syndrome.","authors":"Amanda K Hertel, William R Black, Ashley Lytch, Emily Cramer, Lindsey Malloy Walton, Jordan T Jones","doi":"10.1177/20503121241287073","DOIUrl":"https://doi.org/10.1177/20503121241287073","url":null,"abstract":"<p><strong>Objectives: </strong>Hypermobile Ehlers-Danlos syndrome is a connective tissue disorder characterized by joint hypermobility and other systemic manifestations. Cardiovascular, autonomic symptoms and dysautonomia are frequently reported in adults with hypermobile Ehlers-Danlos syndrome and have been shown to have a negative impact on quality of life. However, there is scant literature on autonomic symptoms in pediatric patients with hypermobile Ehlers-Danlos syndrome. This study aims to characterize cardiovascular symptoms and diagnoses in pediatric patients with hypermobile Ehlers-Danlos syndrome and evaluate the impact of autonomic symptoms on quality of life.</p><p><strong>Methods: </strong>As part of a longitudinal study, a consecutive sample of 70 patients with Ehlers-Danlos syndromes were recruited at routine clinical care visits. Medical history was reviewed, demographics were obtained, and patient-reported outcomes were completed by the patients.</p><p><strong>Results: </strong>The average age of 70 patients was 15.8 years, and the majority were females (89%) and Caucasian (89%). The most common cardiovascular diagnoses were orthostatic intolerance (59%), dysautonomia (47%), and postural orthostatic tachycardia syndrome (21%). Most patients had an echocardiogram (77%), that was normal (82%). No patients had mitral valve prolapse, and only one patient had mild aortic root dilation (2%). Patient-reported outcomes revealed decreased quality of life associated with autonomic symptoms.</p><p><strong>Conclusions: </strong>This study shows that most children with hypermobile Ehlers-Danlos syndrome have cardiovascular and autonomic symptoms, which have a negative impact on quality of life. Few patients with hypermobile Ehlers-Danlos syndrome have structural abnormalities on echocardiogram, which suggests that the cardiovascular symptoms experienced by patients are not due to structural cardiovascular disease and possibly reflective of autonomic pathology, though further studies will need to confirm this. This study confirms that cardiovascular and symptoms are prevalent and have a dramatic impact on quality of life in pediatric and young adult patients diagnosed with hypermobile Ehlers-Danlos syndrome.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11483680/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
SAGE Open MedicinePub Date : 2024-10-09eCollection Date: 2024-01-01DOI: 10.1177/20503121241281147
Christoph Jäger, Michelle Ryan, Nikki Rommers, Janine Schär, Robert Weibel, Reto W Kressig, Arno Schmidt-Trucksäss, Stefan Engelter, Nils Peters, Timo Hinrichs, Roland Rössler
{"title":"Association between lower extremity physical function and physical activity after ischemic stroke: Longitudinal findings from the MOBITEC-Stroke project.","authors":"Christoph Jäger, Michelle Ryan, Nikki Rommers, Janine Schär, Robert Weibel, Reto W Kressig, Arno Schmidt-Trucksäss, Stefan Engelter, Nils Peters, Timo Hinrichs, Roland Rössler","doi":"10.1177/20503121241281147","DOIUrl":"10.1177/20503121241281147","url":null,"abstract":"<p><strong>Background: </strong>Stroke often results in physical impairments. Physical activity is crucial for rehabilitation, enhancing mobility, strength, and overall health. This study examines the association between Timed Up-and-Go (TUG) test performance and changes in physical activity to improve lower extremity physical function.</p><p><strong>Methods: </strong>The MOBITEC-Stroke Cohort Study (\"Recovery of mobility function and life-space mobility after ischemic stroke\") included patients with a first incidence of stroke. Data assessed 3 and 12 months after stroke were used for analysis. Linear regression model adjusted for age, sex, instrumental activities of daily living, Falls Efficacy Scale-International, modified Ranking Scale, and National Institutes of Health Stroke Scale-score was used to examine the relationship between lower extremity physical function (i.e., TUG) and change in physical activity (i.e., minutes of physical activity measured with a wrist-worn accelerometer over 1 week).</p><p><strong>Results: </strong>Longitudinal data of 49 patients (65% male, mean age 71.2 (SD: 10.4) years) were analyzed. Mean daily physical activity was 291.6 (SD: 96.2) min at 3 months and 298.9 (SD: 94.4) min at 12 months, with a change from 3 to 12 months of 7.3 min (95% CI: -9.4 to 24.0; <i>p</i> = 0.394) post-stroke. We observed significant relationships between the baseline TUG performance and the change in total physical activity over 9 months (<i>p</i> = 0.011) and between the change of TUG performance over time and the change in total physical activity (<i>p</i> = 0.022).</p><p><strong>Conclusion: </strong>Our findings indicate that better initial lower extremity physical function and higher improvements in function over time are associated with a greater increase in physical activity levels after stroke. This suggests that interventions aimed at maintaining and improving lower extremity physical function may positively affect physical activity levels.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11504066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142507012","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Understanding the nature and impact of cognitive fluctuations and sleep disturbances in dementia with Lewy bodies: A qualitative caregiver study.","authors":"Ellie Matterson, Gemma Wilson-Menzfeld, Kirsty Olsen, John-Paul Taylor, Greg J Elder","doi":"10.1177/20503121241271827","DOIUrl":"https://doi.org/10.1177/20503121241271827","url":null,"abstract":"<p><strong>Objectives: </strong>Dementia with Lewy bodies is characterised by rapid fluctuations in attention, which are known as \"cognitive fluctuations.\" Despite the fact that cognitive fluctuations are considered to be a core dementia with Lewy bodies symptom, they are very difficult to define and measure using existing quantitative subjective measurement tools, which are typically completed by caregivers. Cognitive fluctuations are also likely to be influenced by various aspects of sleep, but this is as yet unexplored. The primary aim of this qualitative study was to investigate the phenomenology of cognitive fluctuations in dementia with Lewy bodies by understanding caregiver experiences.</p><p><strong>Methods: </strong>Seven caregivers of people with dementia with Lewy bodies completed one-to-one semistructured interviews, which were conducted by telephone. Caregivers were asked to describe the nature, frequency, duration and potential triggers of cognitive fluctuations that were experienced by the individual with dementia with Lewy bodies. Caregivers were also asked about the subjective sleep experience of the individual with dementia with Lewy bodies, and about their own sleep experiences. Interviews were audio recorded, transcribed verbatim and analysed using Thematic Analysis.</p><p><strong>Results: </strong>Caregivers reported that there was a great deal of individual variation in the frequency, duration and severity of cognitive fluctuations. Patient sleep disturbances, including excessive daytime sleepiness, nocturnal awakenings, restless legs and sleep apnoea, were common. However, the impact of sleep alterations or experiences upon the fluctuations was reported to be less clear. Caregivers also reported that their own sleep was negatively affected, potentially due to actively listening for overnight events and behaviours.</p><p><strong>Conclusions: </strong>Qualitatively, caregivers report that dementia with Lewy bodies cognitive fluctuations show large individual variations in terms of their frequency, duration and severity, but that subjectively, sleep may not consistently influence this symptom. Specific, caregiver-focussed interventions are likely to be necessary to maintain good sleep health in dementia with Lewy bodies caregivers.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11468633/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
SAGE Open MedicinePub Date : 2024-10-09eCollection Date: 2024-01-01DOI: 10.1177/20503121241275419
Tan Van Nguyen, Nhi Tuyet Quang, Weber Liu, Ngo Thi Kim Trinh, Tu Ngoc Nguyen
{"title":"Assessing contrast-induced nephropathy risk in older adults undergoing coronary angiography and intervention: The CV/GFR ratio versus Mehran score.","authors":"Tan Van Nguyen, Nhi Tuyet Quang, Weber Liu, Ngo Thi Kim Trinh, Tu Ngoc Nguyen","doi":"10.1177/20503121241275419","DOIUrl":"10.1177/20503121241275419","url":null,"abstract":"<p><strong>Background: </strong>Contrast-induced nephropathy is a prevalent cause of hospital-acquired renal insufficiency and increases adverse events in older patients undergoing angiography and percutaneous coronary intervention. The Mehran risk score has been widely used in Vietnam to assess contrast-induced nephropathy risk in patients before coronary angiography and percutaneous coronary intervention. Recently, there has been a shift toward the adoption of simpler risk prediction models, such as the contrast volume-to-glomerular filtration rate ratio. This study aimed to (1) determine the incidence of contrast-induced nephropathy in older patients undergoing coronary angiography and/or percutaneous coronary intervention, and (2) compare the validity of the contrast volume-to-glomerular filtration rate ratio and the Mehran score in predicting contrast-induced nephropathy.</p><p><strong>Method: </strong>This is a prospective cohort study conducted at a hospital in Vietnam from September 2019 to May 2020. Consecutive patients aged ⩾60 years who underwent coronary angiography and/or percutaneous coronary intervention were recruited. The contrast volume-to-glomerular filtration rate ratio and the Mehran score were evaluated for their predictive utility regarding contrast-induced nephropathy risk. The receiver operator characteristic was employed to calculate the area under the curve for both the contrast volume-to-glomerular filtration rate ratio and the Mehran score in predicting contrast-induced nephropathy.</p><p><strong>Results: </strong>The study included 170 participants with a mean age of 70 years and 33.1% were female. Contrast-induced nephropathy was diagnosed in 9.4% of the participants. Participants with contrast-induced nephropathy exhibited a higher prevalence of chronic kidney disease, anemia, and heart failure. There was no significant difference between the area under the curves of the contrast volume-to-glomerular filtration rate ratio (0.79, 95% CI: 0.65-0.92), and the Mehran score (0.65, 95% CI: 0.51-0.82) in predicting contrast-induced nephropathy.</p><p><strong>Conclusion: </strong>Our findings indicate that contrast-induced nephropathy was prevalent among older patients following percutaneous coronary intervention. The contrast volume-to-glomerular filtration rate ratio demonstrated a good prognostic value for predicting contrast-induced nephropathy comparable to that of the Mehran score. Further research is needed to identify optimal cutoff values for the contrast volume-to-glomerular filtration rate ratio in older patients.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11526325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
SAGE Open MedicinePub Date : 2024-10-09eCollection Date: 2024-01-01DOI: 10.1177/20503121241272636
Keneilwe Molebatsi, Otsetswe Musindo, Kagiso Bojosi, Nduku Wambua, Anthony A Olashore
{"title":"Burnout and associated factors among nurses in psychiatric and general tertiary hospitals in Botswana: A cross-sectional study.","authors":"Keneilwe Molebatsi, Otsetswe Musindo, Kagiso Bojosi, Nduku Wambua, Anthony A Olashore","doi":"10.1177/20503121241272636","DOIUrl":"10.1177/20503121241272636","url":null,"abstract":"<p><strong>Introduction: </strong>Research has consistently documented that nurses are at a higher risk for developing burnout syndrome due to the nature of their jobs. The high prevalence of burnout among nursing staff negatively affects healthcare delivery. Nurses experiencing burnout cannot provide quality care or actively participate in health promotion, and those experiencing emotional exhaustion are unlikely to be able to tend to the emotional needs of patients.</p><p><strong>Objective: </strong>The study aimed to determine the prevalence and factors associated with burnout syndrome among nursing staff in Botswana referral general and psychiatric hospitals.</p><p><strong>Methods: </strong>A cross-sectional survey was conducted among 249 nursing staff working in a referral psychiatric and general hospital. The job satisfaction survey, Maslach burnout inventory, and the OCEAN-20 were used to assess job satisfaction, burnout occurrence, and personality traits, respectively. A researcher-designed sociodemographic questionnaire was used to capture demographic data. Variables identified to be associated with burnout on bivariate analyses were entered into a regression analysis to determine to what extent these factors predicted burnout.</p><p><strong>Results: </strong>The prevalence of emotional exhaustion, depersonalization, and reduced personal accomplishment was 65.7%, 56.9%, and 54%, respectively. Being in a general hospital, neuroticism, poor operating condition, and poor communication predicted emotional exhaustion, <i>R</i> <sup>2</sup> = 28%, <i>F</i> (9, 229) = 9.937, <i>p</i> < 0.001. Depersonalization was predicted by neuroticism and poor operating conditions, <i>R</i> <sup>2</sup> = 17%, <i>F</i> (9, 229) = 4.709, <i>p</i> < 0.001. Reduced personal achievement was significantly predicted by the number of people in the household, time at the current hospital, agreeableness, and nature of work, <i>R</i> <sup>2</sup> = 21%, <i>F</i> (7, 203) = 7.875, <i>p</i> < 0.001.</p><p><strong>Conclusions: </strong>Our findings highlight the need for interventions to be developed to address burnout among nursing staff to optimize healthcare delivery.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
SAGE Open MedicinePub Date : 2024-10-09eCollection Date: 2024-01-01DOI: 10.1177/20503121241274192
Kerry LaPlante, Robert Stevens, Anne J Gonzales-Luna
{"title":"Systematic review of the orally administered microbiome therapeutic, fecal microbiota spores, live-brpk, to prevent recurrence of <i>Clostridioides difficile</i> infection in adults.","authors":"Kerry LaPlante, Robert Stevens, Anne J Gonzales-Luna","doi":"10.1177/20503121241274192","DOIUrl":"10.1177/20503121241274192","url":null,"abstract":"<p><strong>Background: </strong><i>Clostridioides difficile</i> infection (CDI) has been linked to over 200,000 cases of illness in hospitalized patients and over 20,000 deaths annually. Up to 25% of patients with an initial CDI episode will experience recurrent CDI (rCDI), which most commonly occurs in the first 8 weeks following antibiotic therapy. In patients with first or multiple rCDI, infection, the microbiome is similarly disrupted, which highlights the challenges of using antibiotics alone while underscoring the need for microbiome restoration regardless of the number of recurrences. In this systematic review, we describe the role of the gastrointestinal microbiome in CDI, and systematically review fecal microbiota spores, live-brpk (VOWST™; VOS for Vowst Oral Spores) for prevention of recurrence in rCDI.</p><p><strong>Methods: </strong>The PubMed database was searched using \"recurrent <i>Clostridioides difficile</i> infection\" AND (SER-109 OR VOS) and limited to clinical trials. The search yielded 7 results: 3 articles describing 3 clinical trials (two Phase 3 trials (ECOSPOR III and ECOSPOR IV) and one Phase 2 trial (ECOSPOR)), 1 describing follow-up of ECOSPOR III, 1 describing a post hoc analysis of comorbidities in ECOSPOR III, and 2 describing health-related quality of life in ECOSPOR III.</p><p><strong>Results: </strong>Compared with placebo, VOS following standard-of-care antibiotics for CDI significantly reduced risk of recurrence at 8 weeks (relative risk, 0.32 (95% CI: 0.18-0.58); <i>p</i> < 0.001; number needed to treat: 4) with a tolerable safety profile; rCDI rates remained low through 24 weeks. The disrupted microbiome, secondary to/exacerbated by antibiotic treatment, was rapidly (i.e., Week 1) restored with VOS. Compared with placebo, VOS demonstrated greater improvements in health-related quality of life.</p><p><strong>Conclusions: </strong>Clinical care of patients with rCDI now includes Food and Drug Administration-approved therapeutics to address microbiome restoration. Clinical trial evidence supports use of VOS following antibiotics and importance of microbiome restoration in rCDI.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11462573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392938","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Impact of blood pressure variability on hemorrhagic transformation post-rt-PA thrombolysis in patients with acute ischemic stroke.","authors":"Sihan Liu, Jiadi Gao, Hanshu Zhao, Yuanqi Xu, Yubing Zhou, Yushuang Liu, Jinru Shen, Zhongling Zhang","doi":"10.1177/20503121241283881","DOIUrl":"10.1177/20503121241283881","url":null,"abstract":"<p><strong>Background: </strong>The relationship between blood pressure variability and hemorrhagic transformation after recombinant tissue plasminogen activator thrombolysis in patients with acute ischemic stroke is uncertain due to inconsistent methodologies across studies. This study aimed to elucidate the association between 24-h systolic blood pressure extremes post-admission and hemorrhagic transformation while considering the possibility of hemorrhagic transformation occurring beyond the initial monitoring period.</p><p><strong>Methods: </strong>We enrolled patients admitted to The First Affiliated Hospital of Harbin Medical University for ischemic stroke who were treated with intravenous recombinant tissue plasminogen activator within 4.5 h of symptom onset between January 2020 and December 2022. We analyzed the relationships among admission blood pressure, 24-h post-admission recombinant tissue plasminogen activator (mean, maximum, minimum, extreme difference, standard deviation, and coefficient of variation), immediate and 1-h post-thrombolysis blood pressure, and hemorrhagic transformation occurrence within 36 h post-thrombolysis. The potential for delayed hemorrhagic transformation was also considered during the interpretation of the results.</p><p><strong>Results: </strong>Among the 138 patients, 39.1% experienced post-thrombolytic hemorrhagic transformation. Multivariate analysis revealed that hemorrhagic transformation was significantly associated with coronary artery disease, cerebral leukoaraiosis, large cerebral infarction, elevated random glucose levels, and 24-h systolic blood pressure extremes at admission. Specifically, 24-h systolic blood pressure extremes showed a significant positive correlation with hemorrhagic transformation (OR = 1. 042; 95% CI: 1.000-1.086, <i>p</i> < 0.05).</p><p><strong>Conclusion: </strong>These findings underscore the importance of establishing robust protocols for continuous blood pressure monitoring and intervention strategies tailored to individual risk profiles. Given that hemorrhagic transformation can occur beyond the initial 36 h, clinicians should maintain vigilance for delayed hemorrhagic transformation, particularly in patients with high recombinant tissue plasminogen activator. Strict control of blood pressure, especially minimizing extremes in systolic blood pressure, is essential to ensure the safety of patients undergoing thrombolysis.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11526278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
SAGE Open MedicinePub Date : 2024-09-29eCollection Date: 2024-01-01DOI: 10.1177/20503121241282401
Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone
{"title":"Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome.","authors":"Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tassone","doi":"10.1177/20503121241282401","DOIUrl":"10.1177/20503121241282401","url":null,"abstract":"<p><strong>Background: </strong>Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and the most common monogenic cause of autism spectrum disorder. The full mutation of the Fragile X Messenger Ribonucleoprotein-1 gene, characterized by an expansion of CGG trinucleotide repeats (>200 CGG repeats), leads to fragile X syndrome. Currently, there are no targeted treatments available for fragile X syndrome. In a recent large multi-site trial, FXLEARN, the effects of the mGluR5 negative allosteric modulator, AFQ056 (mavoglurant), were investigated, but did not show a significant impact of AFQ056 on language development in children with fragile X syndrome aged 3-6 years.</p><p><strong>Objectives: </strong>The current analyses from biospecimens collected in the FXLEARN study aimed to determine whether AFQ056 affects the level of potential biomarkers associated with Akt/mTOR and matrix metalloproteinase 9 signaling in young individuals with fragile X syndrome. Previous research has indicated that these biomarkers play crucial roles in the pathophysiology of fragile X syndrome.</p><p><strong>Design: </strong>A double-blind placebo-controlled parallel-group flexible-dose forced titration design.</p><p><strong>Methods: </strong>Blood samples for biomarkers were collected during the FXLEARN at baseline and subsequent visits (1- and 8-month visits). Biomarker analyses included fragile X messenger ribonucleoprotein-1 genotyping by Southern blot and PCR approaches, fragile X messenger ribonucleoprotein-1 mRNA levels determined by PCR, matrix metalloproteinase 9 levels' detection using a magnetic bead panel, and targets of the Akt/mTOR signaling pathway with their phosphorylation levels detected.</p><p><strong>Results: </strong>This research revealed that administering AFQ056 does not affect the expression levels of the investigated blood biomarkers in young children with fragile X syndrome.</p><p><strong>Conclusion: </strong>Our findings of the lack of association between clinical improvement and biomarkers' levels in the treatment group are in line with the lack of benefit observed in the FXLEARN study. These findings indicate that AFQ056 does not provide benefits as assessed by primary or secondary endpoints.</p><p><strong>Registration: </strong>ClincalTrials.gov NCT02920892.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11526204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142558668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
SAGE Open MedicinePub Date : 2024-09-29eCollection Date: 2024-01-01DOI: 10.1177/20503121241285657
Shewangizaw Hailemariam, Sharew Mulugeta, Molla Asnake
{"title":"Unmet need for family planning among pastoralist community of West Omo zone, Ethiopia: A community based cross-sectional study.","authors":"Shewangizaw Hailemariam, Sharew Mulugeta, Molla Asnake","doi":"10.1177/20503121241285657","DOIUrl":"10.1177/20503121241285657","url":null,"abstract":"<p><strong>Introduction: </strong>Family planning is among the best suggested strategies to decrease the high maternal mortality and morbidity prevailing among pastoral communities. Despite this fact, there is no sufficient information regarding the unmet need for family planning in the study area. Therefore, this study was intended to assess the prevalence of unmet need for family planning and its associated factors among currently married women residing in pastoralist community of West Omo zone, Ethiopia.</p><p><strong>Methods: </strong>Community-based cross-sectional study was conducted from 01 January to 01 April 2021 in West Omo zone. Five-hundred-sixty currently married women aged 15-49 were interviewed, and the study participants were randomly selected by employing a modified random walk approach. Data were checked manually for completeness and consistency, then entered into Epidata 3.1 and exported to SPSS version 22 for analysis. Multivariate binary logistic regression was used to identify the associated factors, and Adjusted Odds Ratio (AOR) at 95% CI with <i>p</i>-value < 0.05 was considered as significant variables.</p><p><strong>Result: </strong>A total of 560 currently married women agreed to participate in this study making a response rate of 93.17%. Two hundred three, that is, about 36.3% (95% CI: 32.1, 40.2%) currently married women had an unmet need for family planning, with 119 (58.6%) wishing to delay childbirth and 84 (41.4%) seeking to limit. Have no formal education (AOR = 2.86 (95% CI: 1.61, 5.10)), having poor knowledge of family planning (AOR = 2.83 (95% CI: 1.45, 5.54)), and lack of husband support of family planning (AOR = 2.38 (95% CI: 1.22, 4.67)) are positively associated with unmet need for family planning.</p><p><strong>Conclusion: </strong>The magnitude of unmet need for family planning in this study is fairly high as compared to previous studies done among non-pastoral community. Hence, it's important to consider the above identified factors while designing effective public health intervention.</p>","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11450574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
SAGE Open MedicinePub Date : 2024-09-29eCollection Date: 2024-01-01DOI: 10.1177/20503121241272572
Mogos Beya Gudeta, Negga Assefa, Yadeta Dessie Bacha, Merhawi Gebremedhin Tekle, Feysel Mohammed Hussen, Astawus Alemayehu, Abraham Negash, Kabtamu Nigussie
{"title":"Utilization of birth companionship and its associated factors among laboring mothers during facilities birth in sub-Saharan Africa. Systematic review and meta-analysis.","authors":"Mogos Beya Gudeta, Negga Assefa, Yadeta Dessie Bacha, Merhawi Gebremedhin Tekle, Feysel Mohammed Hussen, Astawus Alemayehu, Abraham Negash, Kabtamu Nigussie","doi":"10.1177/20503121241272572","DOIUrl":"10.1177/20503121241272572","url":null,"abstract":"<p><strong>Introduction: </strong>Birth companionship is one strategy for improving maternal and neonatal quality of care, as well as their outcomes. It is a low-cost and effective care that provide mothers with evidence-based practices throughout labor and delivery in health facilities. WHO has suggested that birth companionship can be given by a family member, spouse, friend, and doula. They support laboring mothers by offering comfort via touch, massage, warm baths, encouraging mobility, promoting fluid intake and output, supplying information about the status of labor and suggestions for coping strategies, and providing a communication channel between mothers and their caregivers that helps to reduce mother and newborn mortality on a globally and regionally. Despite this benefit, no systematic review and meta-analysis studies have been conducted on this topic in study area. Therefore, this study may give the pooled utilization and associated factors of birth companionship among laboring mothers during facility birth in Sub-Saharan Africa.</p><p><strong>Methods and materials: </strong>A systematic review and meta-analysis was conducted using preferred reporting items for systematic review and meta-analysis guidelines. Data base such as PubMed with Medline, Cochrane library, direct science, google scholar and different gray works of literature/email were used on the utilization of birth companionship and associated factors of studies from 2010 to 2023 in sub-Saharan Africa. A weighted inverse variance random effect model with DerSimonian-Laird method was used to estimate pooled utilization of birth companionship Cochrane <i>Q</i>-test, <i>I</i> <sup>2</sup>, and <i>p</i>-value were computed to detect heterogeneity. Egger test and funnel plot were used to detect the evidence of publication bias. We did subgroup analysis, sensitivity analysis, and meta regression to identify source heterogeneity. The protocol has been registered in PROSPERO database \"CRD42024503048.\"</p><p><strong>Results: </strong>In sub-Saharan Africa, laboring mothers giving delivery in a facility utilized birth companionship at a rate of 34% (95% CI: 26-42, <i>I</i> <sup>2</sup> = 98.90%, <i>p</i> < 0.01). Subgroup analysis revealed that South Africa had the largest pooled utilization of birth companionship (49%), while Rwanda had the lowest (14.5%). Having ANC (AOR = 2.69, 95% CI: 1.66-3.73, <i>I</i> <sup>2</sup> = 10.36%), having an obstetric complication (AOR = 2.55, 95% CI: 1.69-3.4, <i>I</i> <sup>2</sup> = 0%), desiring birth companionship (AOR = 2.46, 95% CI: 1.17-3.74, <i>I</i> <sup>2</sup> = 38.46%), and being prime para (AOR = 2.51, 95% CI: 1.83-3.19, <i>I</i> <sup>2</sup> = 0%) were significantly associated with pooled utilization of birth companionship.</p><p><strong>Conclusions: </strong>There is low pooled utilization of birth companionship among laboring mothers giving delivery in an institution in sub-Saharan Africa. Factors linked to the use of birth companions","PeriodicalId":21398,"journal":{"name":"SAGE Open Medicine","volume":null,"pages":null},"PeriodicalIF":2.3,"publicationDate":"2024-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11450795/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381586","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}