Tag: pubmed

Eur J Hum Genet. 2024 Mar 4. doi: 10.1038/s41431-024-01546-6. Online ahead of print.

ABSTRACT

Huntington disease (HD) is a neurodegenerative disorder caused by ≥36 CAGs in the HTT gene. Intermediate alleles (IAs) (27-35 CAGs) are not considered HD-causing, but their potential association with neurocognitive symptoms remains controversial. As HTT somatic CAG expansion influences HD onset, we hypothesised that IAs are somatically unstable, and that somatic CAG expansion may drive phenotypic presentation in some IA carriers. We quantified HTT somatic CAG expansions by MiSeq sequencing in the blood DNA of 164 HD subjects and 191 IA (symptomatic and control) carriers, and in the brain DNA of a symptomatic 33 CAG carrier. We also performed genotype-phenotype analysis. The phenotype of symptomatic IA carriers was characterised by motor (85%), cognitive (27%) and/or behavioural (29%) signs, with a late (58.7 ± 18.6 years), but not CAG-dependent, age at onset. IAs displayed somatic expansion that were CAG and age-dependent in blood DNA, with 0.4% and 0.01% of DNA molecules expanding by CAG and year, respectively. Somatic expansions of +1 and +2 CAGs were detected in the brain of the individual with 33 CAGs, with the highest expansion frequency in the putamen (10.3%) and the lowest in the cerebellum (4.8%). Somatic expansion in blood DNA was not different in symptomatic vs. control IA carriers. In conclusion, we show that HTT IAs are somatically unstable, but we found no association with HD-like phenotypes. It is plausible, however, that some IAs, close to the HD pathological threshold and with a predisposing genetic background, could manifest with neurocognitive symptoms.

PMID:38433266 | DOI:10.1038/s41431-024-01546-6

BMC Neurol. 2024 Mar 4;24(1):85. doi: 10.1186/s12883-024-03581-8.

ABSTRACT

OBJECTIVE: In patients experiencing acute ischemic stroke, there is ongoing debate surrounding the connection between chronic hyperglycemic status and their initial clinical outcomes. Our objective was to examine the connection between glycated hemoglobin (HbA1c) levels and adverse clinical outcomes at both 3-months adverse clinical outcomes in individuals with acute ischemic stroke (AIS) with and without diabetes.

METHODS: The present prospective cohort study involved 896 AIS patients without diabetes and 628 with diabetes treated at a South Korean hospital from January 2010 to December 2016. The target independent variable is HbA1c. The outcome variable is a modified Rankin scale score ≥ 3. A binary logistic regression model was applied to assess the connection between HbA1c levels and 3-month poor clinical outcomes in AIS patients with and without diabetes. Additionally, a generalized additive model and smoothed curve fitting were utilized to explore potential nonlinear associations between HbA1c levels and 3-month adverse clinical outcomes in AIS patients with and without diabetes.

RESULTS: The binary logistic regression model could not identify any statistically significant connection between HbA1c and 3-month adverse clinical outcomes in AIS patients, both those with and without diabetes, after correcting for various factors. However, a nonlinear relationship emerged between HbA1c and 3-month adverse clinical outcomes in AIS patients with diabetes. The inflection point for HbA1c was determined to be 6.1%. For HbA1c values ≤ 6.1%, an inverse association was observed between HbA1c and 3-month adverse clinical outcomes in diabetic AIS patients, and each 1% increase in HbA1c in AIS patients with DM was associated with an 87% reduction in 3-month adverse clinical outcomes (OR = 0.13, 95% CI: 0.02-0.81). Conversely, when HbA1c exceeded 6.1%, a positive association between HbA1c and 3-month adverse clinical outcomes became apparent in diabetic AIS patients, and each 1% increase in HbA1c in AIS patients with DM was associated with a 23% increase in 3-month adverse clinical outcomes (OR = 1.23, 95%CI: 1.03-1.47). However, it’s important to note that no significant linear or nonlinear relationships were observed between HbA1c levels and 3-month adverse clinical outcomes in AIS patients without diabetes.

CONCLUSION: Our findings suggest a nonlinear connection and threshold effect between HbA1c and 3-month adverse clinical outcomes in AIS patients with diabetes. AIS patients with diabetes had a lower risk of 3-month adverse clinical outcomes when their HbA1c control was close to 6.1%. Our findings may aid treatment decision-making and potentially guide interventions to optimize glycemic control in AIS patients.

PMID:38433248 | DOI:10.1186/s12883-024-03581-8

Sci Rep. 2024 Mar 3;14(1):5221. doi: 10.1038/s41598-024-54609-5.

ABSTRACT

Nascent studies showed that patients with chronic medical illnesses such as diabetes mellitus (DM) and HIV/AIDS are highly vulnerable to face both treatment burden and regimen fatigue. However, an attempt made so far in this sphere in sub-Saharan African health care context is dearth. Thus, this study aimed to determine the level of treatment burden and regimen fatigue of diabetic and HIV patients attending adult diabetic and ART clinics of TASH and explore patients’ and health care workers’ propositions to reduce treatment burden and regimen fatigue. An explanatory sequential mixed methods study was conducted at the adult HIV and DM clinics of TASH, Addis Ababa, Ethiopia from February 01-March 30, 2022. Simple random and purposive sampling techniques were employed to select participants for quantitative and qualitative studies, respectively. Descriptive analysis was done to summarize the quantitative data. Logistic and linear regression analyses were performed to identify predictors of treatment burden and regimen fatigue, respectively. P value < 0.05 was considered statistically significant. Qualitative data was analyzed by using a thematic analysis. A total of 300 patients (200 diabetes and 100 HIV) were included in the quantitative study. For the qualitative study, 14 patients and 10 health care workers (six nurses and four medical doctors) were included. Participants’ mean global Treatment Burden Questionnaire (TBQ) and Treatment Regimen Fatigue Scale (TRFS) score were 28.86 ± 22.13 and – 42.82 ± 17.45, respectively. Roughly, 12% of patients experienced a high treatment burden. The presence of two or more comorbidities (adjusted odds ratio [AOR] = 7.95, 95% confidence interval [CI] 1.59-39.08), daily ingestion of more than five types of prescribed medications (AOR = 6.81, 95%CI 1.59-29.14), and good knowledge about DM and/or HIV (AOR = 0.33, 95%CI 0.12-0.92) were predictors of treatment burden. Poor availability of medications (β = 0.951, p < 0.001) was the only predictor of regimen fatigue. Patients and health care workers primarily proposed to foster self-care efficacy, advance administrative services of the clinic and hospital, and improve healthcare system provision. The findings of this study unveiled that a considerable proportion of patients experienced low levels of treatment burden and regimen fatigue. This study showed that boosting the patients’ self-care efficacy, upgrading administrative services of the clinic and hospital, and promoting the healthcare system provision had enormous significance in reducing treatment burden and regimen fatigue. Therefore, when designing patient-specific healthcare interventions for both HIV and diabetic patients’ various factors affecting both treatment burden and regimen fatigue should be considered to achieve the desired goals of therapy.

PMID:38433234 | DOI:10.1038/s41598-024-54609-5

Arthritis Res Ther. 2024 Mar 4;26(1):60. doi: 10.1186/s13075-024-03296-8.

ABSTRACT

OBJECTIVE: This meta-analysis aims to explore the potential link between vaccines and systemic lupus erythematosus (SLE).

METHODS: We systematically searched PubMed, Cochrane Library, and Embase for observational studies from inception to September 3, 2023, using medical subject headings (MeSH) and keywords. Study quality was assessed using the NOS scale. Statistical analyses were conducted using STATA software (version 14.0). Publication bias was evaluated using funnel plots and Egger’s regression.

RESULTS: The meta-analysis incorporated 17 studies, encompassing 45,067,349 individuals with follow-up periods ranging from 0.5 to 2 years. The pooled analysis revealed no significant association between vaccinations and an increased risk of SLE [OR = 1.14, 95% CI (0.86-1.52), I² = 78.1%, P = 0.348]. Subgroup analyses indicated that HBV vaccination was significantly associated with an elevated risk of SLE [OR =2.11, 95% CI (1.11-4.00), I² = 63.3%, P = 0.02], HPV vaccination was slightly associated with an increased risk of SLE [OR = 1.43, 95% CI (0.88-2.31), I² = 72.4%, P = 0.148], influenza vaccination showed no association with an increased risk of SLE [OR = 0.96, 95% CI (0.82-1.12), I² = 0.0%, P = 0.559], and COVID-19 vaccine was marginally associated with a decreased risk of SLE [OR = 0.44, 95% CI (0.18-1.21), I² = 91.3%, P = 0.118].

CONCLUSIONS: This study suggests that vaccinations are not linked to an increased risk of SLE. Our meta-analysis results provide valuable insights, alleviating concerns about SLE risk post-vaccination and supporting further vaccine development efforts.

PMID:38433222 | DOI:10.1186/s13075-024-03296-8

BMC Med. 2024 Mar 4;22(1):91. doi: 10.1186/s12916-024-03307-0.

ABSTRACT

BACKGROUND: Epilepsy, characterized by recurrent unprovoked seizures, poses significant challenges to affected individuals globally. While several established risk factors for epilepsy exist, the association with cigarette smoking remains debated. This study aims to conduct systematic review and meta-analysis to elucidate the potential association between smoking and the likelihood of epilepsy.

METHODS: The search was performed on March 31st, 2023, using the Medline, Embase, Web of Science, Scopus, and ScienceDirect. We included cohort, cross-sectional, and case-control studies in our meta-analysis, conducting subgroup analyses based on smoking history, sex, and epilepsy type to yield specific insights.

RESULTS: We identified 2550 studies, of which 17 studies were finally included in this study. The pooled odds ratio of epilepsy was 1.14 (0.96-1.36) in smokers compared to non-smokers. In current smokers compared to non-smokers, the odds ratio was 1.46 (1.13-1.89), while, in former smokers compared to non-smokers, the odds ratio was 1.14 (0.83-1.56).

CONCLUSIONS: While the overall association between smoking and epilepsy did not reach statistical significance, a notable association was found among current smokers. The study emphasizes the importance of smoking cessation as a potential preventive measure against epilepsy, especially given the proconvulsive effects of nicotine. Future research should address limitations and explore specific clinical scenarios to enhance our understanding of the complex relationship between cigarette use and epilepsy.

SYSTEMATIC REVIEW REGISTRATION: CRD42022342510.

PMID:38433201 | DOI:10.1186/s12916-024-03307-0

BMC Palliat Care. 2024 Mar 4;23(1):65. doi: 10.1186/s12904-024-01396-5.

ABSTRACT

BACKGROUND: Bereaved relatives of intensive care unit (ICU) patients are at increased risk of psychological complaints. Aftercare might help them cope with processing the ICU admission and their loved one’s death. There is little (qualitative) evidence on how bereaved relatives experience aftercare. Also, the COVID-19 pandemic likely impacted aftercare provision. We aim to examine how many relatives in Dutch ICUs received aftercare before and during the pandemic and to qualitatively describe their experiences and needs regarding aftercare.

METHODS: A mixed-methods study among relatives of patients who died in an ICU before or during the COVID-19 pandemic. Bereaved relatives in six ICUs completed a questionnaire (n = 90), including two items on aftercare. These were analyzed using descriptive statistics and Chi-squared tests. Subsequently, both relatives that received and relatives that did not receive aftercare were interviewed about their experiences and needs regarding aftercare. The interviews were thematically analyzed.

RESULTS: After the passing of a loved one, 44% of the relatives were asked by a healthcare professional from the hospital how they were doing, and 26% had had a follow-up conversation. Both happened more often during the first wave of the pandemic than during the second wave or before the pandemic. The most common reason for not having had a follow-up conversation was not knowing about this option (44%), followed by not feeling a need (26%). Regarding the latter, interviewed relatives explained that this would not revive their loved one or that they had already discussed everything they wanted. Relatives who wanted a follow-up conversation, wanted this because this would help them realize the severity of their loved one’s illness, to exchange personal experiences, and/or to thank the ICU team. Those with a follow-up conversation said that they had reviewed the medical course of the admission and/or discussed their (mental) well-being.

CONCLUSIONS: ICU healthcare professionals may play a vital role in addressing aftercare needs by asking relatives how they are doing in the weeks following the death of their loved one and offering them a follow-up conversation with an ICU physician. We recommend to include aftercare for bereaved relatives in ICU guidelines.

PMID:38433194 | DOI:10.1186/s12904-024-01396-5

Int Urol Nephrol. 2024 Mar 4. doi: 10.1007/s11255-024-04003-x. Online ahead of print.

ABSTRACT

PURPOSE: We aimed to compare the efficacy, safety, and compliance of tadalafil 5 mg daily dose in the tablet form versus oral dispersible film (ODF) in men with mild-to-moderate erectile dysfunction (ED).

METHODS: One hundred thirty-five randomized patients were equally divided into three groups according to age where each group included forty-five patients. Within each group, 15 patients received oral tadalafil 5 mg, 15 patients received ODF tadalafil 5 mg and 15 patients received a placebo once daily for 1 month. All participants were assessed by the validated Arabic version of the international index of erectile function (ArIIEF-5) at baseline and after 1 month. Also, the efficacy of different forms of tadalafil 5 mg was assessed by responding affirmatively to a questionnaire.

RESULTS: Patients aged > 25 to < 40 years and 40-55 years and > 55 years showed a statistically significant improvement of ArIIEF-5 scores after tadalafil 5 mg tablet and ODF tadalafil 5 mg compared to placebo ODF (23 ± 1.4; 22.7 ± 0.9; 20 ± 0.9; 20.4 ± 1.3; 20.2 ± 1.2; 16.6 ± 1.2; 18.5 ± 1.7; 19.6 ± 1.4; 16.3 ± 1.4; p < 0.001, respectively). Three patients (> 25 to < 40 years) who received tadalafil 5 mg tablet showed muscle and back pain. Gastrointestinal (GIT) upset (eight patients) followed by headache (seven patients) were the main side effects reported in patients (40-55 years) who received tadalafil 5 mg tablet. While GIT upset was the main side effect reported in patients (> 55 years) who received tadalafil 5 mg tablet.

CONCLUSION: ODF tadalafil 5 mg is an effective, tolerable, and safe formulation that can be used in patients with mild-to-moderate ED.

PMID:38433177 | DOI:10.1007/s11255-024-04003-x

Eur Spine J. 2024 Mar 3. doi: 10.1007/s00586-024-08155-3. Online ahead of print.

ABSTRACT

PURPOSE: Sarcopenia, defined as progressive impairment of muscle function secondary to loss of skeletal muscle mass, has prevalence of 24-56% in patients > 60 years. Forty-four per cent of elderly patients undergoing orthopaedic surgery are found to be sarcopenic. It is a known risk factor for fall, fractures, disability, increased post-operative morbidity and mortality. If diagnosed pre-operatively, it can help prepare the patient and surgical team to foresee complications and thereby reduce morbidity and mortality. In the present study, we evaluated and correlated sarcopenia with the surgical outcome of operated patients with lumbar spine pathology.

MATERIALS AND METHODS: A prospective, observational study was conducted on 114 patients > 40 years undergoing lumbar spine surgeries, who were studied and followed up for 3 months. They were segregated into 5 groups based on age (40-50 year, 50-60 year, 60-70 year, 70-80 year, and > 80 year) and were assessed separately. Data on demography, grip strength analysis, 30-s chair stand test, Psoas muscle index (calculated on pre-operative MRI), pre- and post-operative ODI (Oswestry Disability Index) scores at 2 weeks and 3 months, Dindo-Clavien Classification of peri-operative complications, 90-day readmission rates and mortality (if any) were included. Patients were segregated into sarcopenic and non-sarcopenic groups based on the definition and set parameters as per the European Working Group on Sarcopenia in Older People (EWGSOP). A comparative analysis between these groups was performed.

RESULTS: Of 114 patients, there were 18 patients in 40-49 years, 24 in 50-59 years, 33 in 60-69 years, 30 in 70-79 years and 9 in > 80 years age group. Statistically significant difference in peri-operative ODI scores was seen in sarcopenic vs non-sarcopenic patients in all age groups (p < 0.05) except 40-49 years. The results showed that sarcopenic group had higher rate of peri-operative complications, delayed mobilisation, longer stay and mortality compared to non-sarcopenic group.

CONCLUSION: We conclude that sarcopenic patients have poor outcome in lumbar spine surgery compared to those without. So, by diagnosing sarcopenia using tests routinely done as pre-operative requirement, one can reduce radiation exposure and cost of treatment. The management can be revolutionised by predicting those who are at high risk of developing post-operative complications and poor surgical outcomes by mere diagnosis of sarcopenia. This knowledge will benefit both the patients and the surgeons.

PMID:38433166 | DOI:10.1007/s00586-024-08155-3

Semin Ophthalmol. 2024 Mar 3:1-4. doi: 10.1080/08820538.2024.2324459. Online ahead of print.

ABSTRACT

PURPOSE: The academic success of ophthalmology fellows may be significantly impacted by their research engagement. Evaluating the research activity of fellows by subspecialty may provide insight into trends useful for prospective applicants. The objective of this study was to assess the research activity of ophthalmology fellows in the year 2023.

METHODS: Ophthalmology fellowship programs were compiled using the Association of University Professors of Ophthalmology and the American Society of Ophthalmic Plastic and Reconstructive Surgery websites. Program subspecialties were categorized as: Cornea and External Disease [CED]; Cornea, External Disease, and Refractive Surgery [CEDRS]; Glaucoma; Medical Retina [MR]; Neuro-Ophthalmology [NO]; Oculoplastics; Pediatric Ophthalmology [PO]; Surgical Retina [SR]; Uveitis; and Other. “Other” consisted of Oncology, Pathology, combined Oncology and Pathology fellowships. We identified current fellows using publicly available online information. Programs and fellows that did not have information available were excluded. Total publications, Hirsch index (h-index), and weighted-relative citation ration (w-RCR) were utilized as measures of research output, while total citations and mean-RCR (m-RCR) served as proxies for research impact. Duration of publishing was calculated using the years of the oldest and most recent publications. Statistical analysis was performed using Kruskal-Wallis H tests with an alpha value of .05.

RESULTS: A total of 373 fellows from 229 programs met our inclusion criteria. More than half of fellows were men (54.4%), and the most common degree type was MD (93.0%). Across all subspecialties, the median h-index was 3.0 (IQR = 4), m-RCR was .9 (IQR = 1.2) and w-RCR was 3.2 (IQR = 9.8). The median number of publications was six (IQR = 10, with 34 citations (IQR = 110) and 4 years of publishing (IQR = 6). We observed significant differences in h-index (p = .038), total publications (p < .001), and w-RCR (p = .028) by subspecialty.

CONCLUSION: We observed significant differences in research output, but no differences in research impact by subspecialty. Overall, Uveitis and Oculoplastics fellows had higher research activity, while Medical Retina and Other fellows had the lowest. This data is pertinent to better understand the landscape of ophthalmology fellowship applications.

PMID:38433143 | DOI:10.1080/08820538.2024.2324459

Int J Nurs Educ Scholarsh. 2024 Mar 4;21(1). doi: 10.1515/ijnes-2023-0075. eCollection 2024 Jan 1.

ABSTRACT

BACKGROUND: The flipped classroom (FC) pedagogy improves undergraduate student proficiency and satisfaction. However, its effectiveness has not been demonstrated in nursing anesthesia education.

OBJECTIVES: Pre- and post-FC tests and course evaluations were retrospectively compared to determine if FC was an effective pedagogy for a nursing anesthesia program (NAP).

METHODS: The design of the study was a retrospective program evaluation. Two groups were compared with 59 students in the pre-FC group taught via traditional lecture and 61 students in the post-FC group taught with FC. Answers to the same 167 test questions were compared using an independent t-test and five course evaluation questions were statistically compared using NPAR1WAY procedure with the Wilcoxon option to determine if significant differences existed between the two nursing anesthesia student cohorts.

RESULTS: The post-FC students exhibited a significant 4 % increase in test scores and expressed increased satisfaction compared to their pre-FC counterparts.

CONCLUSIONS: This retrospective program evaluation showed that student proficiency and satisfaction improved between the groups after changing to the FC pedagogy. However, research is needed to determine the true value of using FC in nursing anesthesia education.

IMPLICATIONS FOR AN INTERNATIONAL AUDIENCE: The flipped classroom model can be beneficial in graduate nursing education with our ever-changing student population.

PMID:38433122 | DOI:10.1515/ijnes-2023-0075