bluuebunny/crossref_metadata_2025 huggingface dataset:
Diagnosis, treatment, and genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A review
Authors: Wang Yemin , Xiao Li , Yin Lili , Zhou Lv , Deng Yanjuan , Deng Huan
Published: February 2023

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a highly aggressive and extremely rare hematologic disease with a poor prognosis, involving mainly the skin and bone marrow. The immunophenotype of these tumor cells is characterized by the expression of CD4, CD56, CD123, TCL-1, and CD303. To date, no consensus has been reached on the standard of care for BPDCN. Currently, clinical treatment is mainly based on high-dose chemotherapy combined with hematopoietic stem cell transplantation. However, this treatment method has limitations for elderly, frail, and relapsed/refractory patients. In recent years, breakthroughs in molecular biology and genetics have not only provided new ideas for the diagnosis of BPDCN but also helped develop targeted treatment strategies for this disease. The emergence of targeted drugs has filled the gap left by traditional therapies and shown great clinical promise. This article focuses on the latest advances in genetics and targeted therapies for BPDCN, especially the emerging therapies that may provide new ideas for the clinical treatment of BPDCN.
Utility of 6% hydroxyethyl starch 130/0.4 in oral cancer surgeries with a duration of over 6 hours: A retrospective case-control study
Authors: Yaguchi Erika , Ujita Tomoaki , Hamaguchi Shinsuke
Published: February 2023

To evaluate the utility of 6% hydroxyethyl starch (HES) 130/0.4 in oral cancer surgeries with durations over 6 hours. Using a case-control study design, the investigators enrolled patients who underwent oral cancer surgery involving osteotomy or manipulation near the major blood vessels at the Department of Orofacial Surgery in our hospital between 2017 and 2020. The predictor variable was 6% HES130/0.4. Outcomes included in-out balance and other postoperative parameters pertaining to circulatory maintenance (blood loss, urine volume, infusion volume, blood transfusion volume, albumin dose, hemoglobin levels, blood albumin levels, and doses of vasopressors used to maintain blood pressure), as well as pre- and postoperative renal function, pH, bicarbonate levels, and base excess. Changes in renal function were evaluated by assessing blood urea nitrogen and creatinine levels before surgery and at 1 and 7 days postoperatively. The Mann–Whitney U test was used for between-group comparisons, and Student t test was used for intragroup comparisons. The statistical significance was set at P < .05. A total of 65 patients underwent oral cancer surgery with a duration over 6 hours during the study period. The administration of 6% HES130/0.4 at 22.1 ± 7.5 mL/kg/day did not increase blood loss or the blood transfusion volume. Moreover, patients who were administered 6% HES130/0.4 had a significantly larger mean urine volume and infusion volume than those who were not administered 6% HES130/0.4. The infusion therapy could maintain the urine volume and did not worsen renal function. The results of this study showed that administration of 6% HES130/0.4 at a dose lower than 25 mL/kg in patients undergoing oral cancer surgery over 6 hours was effective for circulation maintenance but did not increase the intraoperative blood loss or transfusion volume. This treatment did not cause any dilutional metabolic acidosis or renal dysfunction.
Effectiveness and safety of electroacupuncture combined with conventional drugs in the treatment of stable angina pectoris in coronary artery disease: A systematic evaluation and meta-analysis
Authors: Pang Shuwen , Lv Yajuan , Zhong Wenfang , Qian Jing , Zhao Yueli , Zhong Jiahui , Huang Weiyi
Published: February 2023

Background:

The objective of this study is to systematically evaluate the clinical effectiveness and safety of electroacupuncture combined with conventional drugs in the treatment of stable angina pectoris.

Methods:

Computer searches of 3 Chinese literature databases (CNKI, VIP, WangFang) and 4 English literature databases (PubMed, Embase, Cochrane Central Register of Controlled Trials, Web of Science), all searched from the time of database construction to October 2022. Two researchers were selected to independently perform literature screening, data extraction, and risk of bias evaluation, and meta-analysis of the included studies was performed using RevMan 5.3 software.

Results:

A total of 7 publications with a total of 1042 patients were included, and electroacupuncture combined with conventional drug therapy compared with drug therapy alone was effective in improving clinical symptoms of angina pectoris (relative risk [RR] = 1.19, 95% CI = [1.09, 1.31], P = .0002), clinical treatment efficiency of electrocardiography (RR = 1.34, 95% CI = [1.19, 1.50], P = .00001), visual analog score (VAS) (mean deviation = 0.07, 95% CI = [−0.11, 0.25], P = .44), and Seattle Angina Scale (mean deviation = 4.91, 95% CI = [2.91, 6.91], P < .00001) were better than conventional drug therapy, while the number of adverse events in the intervention group was lower than that in the control group. One of the outcome indicators with greater heterogeneity was tested by sensitivity analysis, and each outcome indicator was found to be more robust. The risk of bias evaluation of each outcome indicator using funnel plots suggested the possibility of publication bias.

Conclusion:

The current study results found that electroacupuncture combined with conventional drugs can significantly improve the clinical symptoms of patients with stable angina pectoris compared with conventional drug therapy, with a low incidence of adverse reactions, but the number of high-quality literature with rigorous study design protocols is currently low, which may cause bias in the results of this study, so the above conclusions need to be further verified through clinical trials.
Reverse predictive analysis of Rhizoma Pinelliae and Rhizoma Coptidis on differential miRNA target genes in lung adenocarcinoma
Authors: Meng Tianwei , Liu Jiawen , Chang Hong , Qie Rui
Published: February 2023

To use bioinformatics and network analysis to reveal the mechanism of “Rhizoma Pinelliae-Rhizoma Coptidis” herb pair in the treatment of lung adenocarcinoma. The target and pathway of “Rhizoma Pinelliae-Rhizoma Coptidis” herb pair in the treatment of lung adenocarcinoma were explored by online databases and network analysis tools, and the potential biomarkers of “Rhizoma Pinelliae-Rhizoma Coptidis” herb pair in the treatment of lung adenocarcinoma were predicted in reverse. A total of 59 traditional Chinese medicine compounds and 510 drug targets were screened in this study. A total of 25 micro-RNAs and 15,323 disease targets were obtained through GEO2R software analysis. In the end, 294 therapeutic targets and 47 core targets were obtained. A total of 186 gene ontology enrichment assays were obtained, and core therapeutic targets play multiple roles in biological processes, molecular functions, and cellular composition. Kyoto encyclopedia of genes and genomes pathway enrichment analysis showed that the core targets were mainly enriched in cancer-related pathways, immune-related pathways, endocrine-related pathways, etc, among which the non-small cell lung cancer pathway was the most significant core pathway. Molecular docking shows that the compound and the target have good binding ability. “Rhizoma Pinelliae-Rhizoma Coptidis” herb pair plays a mechanism of action in the treatment of lung adenocarcinoma through multiple targets and pathways. miR-5703, miR-3125, miR-652-5P, and miR-513c-5p may be new biomarkers for the treatment of lung adenocarcinoma.
Elevated STIL predicts poor prognosis in patients with hepatocellular carcinoma
Authors: Song Huangqin , Zhao Haichao , Chen Changzhou , Zhang Donglin , Wang Xiaoxiao , He Jiefeng
Published: February 2023

Overexpression of SCL/TAL1 interrupting locus (STIL) has been observed in various cancer types. However, the clinical significance of STIL in hepatocellular carcinoma (HCC) remains unknown. Cox regression and Kaplan–Meier survival analyses were performed to evaluate the prognostic value of STIL. Go and Kyoto encyclopedia of genes and genomes (KEGG) enrichment analyses were also carried out. Immune infiltrates analyses were conducted based on TIMER (Tumor Immune Estimation Resource) and GAPIA databases. STIL expression was highly expressed in HCC tissues, based on multiple databases. KEGG and GO enrichment analysis showed STIL-related to tumorigenesis and progress. Furthermore, STIL was significantly correlated with immune infiltration. STIL serves as a biomarker for the prediction of patient survival.
The effects of pharmacomechanical thrombectomy on novel complete blood count parameters in deep vein thrombosis: A retrospective study
Authors: Yener Ali Ümit , Yalçinkaya Adnan , Yener Özlem , Çelik Ekin Can , Hanedan Onur , Çiçek Mustafa Cüneyt , Çiçek Ömer Faruk
Published: February 2023

This study aimed to investigate the effects of pharmacomechanical thrombectomy on novel complete blood count parameters in deep venous thrombosis. This retrospective study included 242 patients aged >18 years who were treated for deep venous thrombosis. Patients were grouped as follows: group 1 was accepted as having interventional operations (n = 123) and group 2 was accepted as having only medical advice (n = 119). Routine complete blood count parameters, the neutrophil-to-lymphocyte ratio (NLR), and the platelet-to-lymphocyte ratio (PLR) were compared. There was no difference between the groups in terms of admission hemoglobin, hematocrit, mean platelet volume, NLR and PLR (P = .11, P = .24, P = .55, P = .93, and P = .96, respectively). In the pharmacomechanic thrombectomy group, NLR and PLR were significantly reduced after intervention when compared to the admission values (P < .001 and P < .001, respectively). However, the NLR and PLR values of medically treated patients did not differ significantly from their baseline values (P = .16 and P = .08, respectively). In this study, we effectively removed the thrombus load in blocked proximal veins using pharmacomechanical thrombectomy and observed a significant decrease in NLR and PLR, which are current, inexpensive, and accessible parameters.
Association between systemic immune-inflammation index (SII) and survival outcome in patients with primary glioblastoma
Authors: Yang Chao , Li Zhi-Qiang , Wang Jie
Published: February 2023

The purpose was to evaluate the prognostic value of systemic immune-inflammation index (SII) in glioblastoma patients. A total of 100 patients were retrospectively analyzed. We performed Kaplan–Meier and Cox regression analyses to determine the prognostic significance of SII. A nomogram was constructed by incorporating independent prognostic variables. The predictive accuracies of nomograms were evaluated by Harrell concordance index (c-index) and receiver operating characteristic curve analysis; the clinical benefit was evaluated by decision curve analysis. A high SII (>510.8 × 109 cells/L) (hazard ratio = 1.672, P = .034) and neutrophil count (>3.9 × 109 cells/L) (hazard ratio = 1.923, P = .009) were independently related with poor outcome in glioblastoma patients based on Cox analysis. The nomogram incorporating SII showed a good predictive accuracy (c-index = 0.866). Preoperative SII and neutrophil count are potential prognostic biomarkers for overall survival in glioblastoma patients and the nomogram model that integrated the SII may be used to facilitate a comprehensive preoperative survival evaluation.
The Role of Anxiety Sensitivity in the Association Between Childhood Maltreatment and Sleep Disturbance Among Adults in Psychiatric Inpatient Treatment
Authors: Amarneh Dania , Lebeaut Antoine , Viana Andres G. , Alfano Candice A. , Vujanovic Anka A.
Published: February 2023

The present investigation examined associations of childhood maltreatment, anxiety sensitivity (AS), and sleep disturbance among a diverse sample of adults in psychiatric inpatient treatment. We hypothesized that childhood maltreatment would be indirectly associated with greater sleep disturbance through elevated AS. Exploratory analyses examined the indirect effect models with three AS subscales (i.e., physical, cognitive, and social concerns) as parallel mediators. A sample of adults in acute-care psychiatric inpatient treatment (N = 88; 62.5% male; M
age = 33.32 years, SD = 11.07; 45.5% White) completed a series of self-report measures. After accounting for theoretically relevant covariates, childhood maltreatment was indirectly associated with sleep disturbance through AS. Parallel mediation analyses revealed that no individual subscale of AS significantly accounted for this association. These findings suggest that heightened levels of AS may explain the association between childhood maltreatment and sleep disturbance among adults in psychiatric inpatient treatment. Interventions targeting AS can be brief and efficacious and have the potential to improve clinical outcomes among psychiatric populations.
Multimorbidity and Correlates of Comorbid Depression and Generalized Anxiety Disorder in a Nationally Representative US Sample
Authors: Jegede Oluwole , Stefanovics Elina A. , Rhee Taeho Greg , Rosenheck Robert A.
Published: February 2023

Generalized anxiety disorder (GAD) and major depressive disorder (MDD) frequently occur together, but sociodemographic, behavioral, and diagnostic correlates of this comorbidity have not been comprehensively studied. Data from the nationally representative US sample surveyed in the National Epidemiologic Survey on Alcohol and Related Conditions–III (N = 36,309) were used to define three groups, individuals with a) both past-year GAD and MDD (n = 909, 16.9%), b) GAD only (n = 999, 18.6%), and c) MDD only (n = 3471, 64.5%). The comorbid group was compared with each single-diagnosis group on sociodemographic, behavioral, and diagnostic characteristics based on effect sizes (risk ratios and Cohen's d) rather than p values because of the large sample sizes. Multivariable-adjusted logistic regression analyses were used to identify factors independently associated with the comorbid group. Bivariate analysis showed that the comorbid group had more parental and childhood adversities, additional psychiatric disorders, and poorer mental health quality of life than both single-disorder groups. Multivariable-adjusted logistic regression of the comorbid group showed that on two of five factors, additional psychiatric diagnoses were significantly more frequent than in the GAD-only group, and that on three of six factors, additional psychiatric diagnoses were significantly more frequent than in the MDD-only group. There is a significantly higher burden of social adjustment problems, comorbid psychiatric disorders, and poorer mental health–related quality of life among individuals with comorbid GAD-MDD than those with single disorders. The adversities associated with this non-SUD psychiatric comorbidity are comparable to those associated with the more extensively studied comorbidity of psychiatric and substance use disorders and deserve further research and treatment.
Clinical Nurse Specialist and Clinical Nurse Leader Collaboration During the COVID-19 Pandemic
Authors: Cosper Pamela , Bossie Julia , Bond Cynthia L. , Hunter Donna
Published: February 2023

Purpose

The aim of this study was to describe an innovative strategy to maintain healthcare worker safety and optimal patient outcomes that was implemented by a healthcare system in the Southeastern United States during the COVID-19 pandemic.

Program Description

During the surges of the COVID-19 pandemic, healthcare systems have struggled with healthcare worker burnout, high staff turnover rates, and redeployment of staff to unfamiliar areas and the uncertainty regarding COVID-19 personal protection and patient care. Clinical nurse specialist/clinical nurse leader teams were created to help ensure healthcare worker safety and optimize patient care outcomes.

Outcome

Healthcare worker safety and desired patient outcomes were maintained. Throughput was expedited for emergency department patients, and there was timely implementation of therapeutic modalities for critically ill patients.

Conclusion

Clinical nurse specialist/clinical nurse leader team collaboratively cross-trained staff to ensure their safety and delivery of quality patient care. The team was pivotal in helping safeguard staff from harm while optimizing patient outcomes. Lessons learned will help us in future disasters as well as our daily operations.
A Scoping Review of Interventions and Experiences Increasing Medical Student Interest in Physical Medicine and Rehabilitation
Authors: Redepenning Drew H. , Chau Justin , Dorris C. Scott , Bliznak Victoria , Persson Daniel C. , Wilson Ethan , Pingenot Edward A. , Mayer R. Samuel
Published: February 2023

Increasing medical student exposure to Physical Medicine and Rehabilitation is an important factor for future growth of the field. Therefore, it is important to determine which types of interventions during medical school have the greatest impact on medical students’ decision to pursue a career in Physical Medicine and Rehabilitation. The purpose of this study is to perform a scoping review of the current literature that has analyzed how different interventions and experiences impact medical school students’ decision to pursue a career in Physical Medicine and Rehabilitation. A systematic and comprehensive search strategy was implemented across five different journal databases and yielded 18 articles meeting the inclusion criteria. A majority of studies analyzing specific interventions looked only at pre- and post-survey comparisons of the immediate impact of the intervention on interest in Physical Medicine and Rehabilitation and few looked at longitudinal outcomes such as match characteristics. The most frequently cited factor that was shown to positively impact interest in Physical Medicine and Rehabilitation was early exposure. Participating in clinical rotations also had a positive impact but was most effective when combined with early exposure. This review highlights the need for national recommendations for integrating Physical Medicine and Rehabilitation into all four years of medical education.
68Ga-FAPI-04 PET/CT in a Small Sarcomatoid Renal Cell Carcinoma With Widespread Metastases
Authors: Dong Aisheng , Yang Bo , Bai Yushu , Zuo Changjing
Published: February 2023

Sarcomatoid renal cell carcinoma is an uncommon high-grade malignancy with poor prognosis. We describe 68Ga-FAPI-04 PET/CT findings in a patient with a small (1.8 cm in the maximum diameter) sarcomatoid clear cell renal cell carcinoma with widespread metastatic disease. Both the primary renal tumor and its metastases in bones, lymph nodes, adrenals, and liver showed increased 68Ga-FAPI-04 uptake. The primary renal tumor showed hypovascularity on contrast-enhanced CT, mimicking papillary renal cell carcinoma. This case indicates FAPI PET/CT may be useful for detecting and staging of this unusual malignancy.
Blood Pressure Control From 2011 To 2019 In Patients 90 Days After Stroke
Authors: Levine Deborah A. , Morgenstern Lewis B. , Kwicklis Madeline , Shi Xu , Case Erin , Lisabeth Lynda D.
Published: February 2023

Background and Aims

Whether and how much stroke survivors’ blood pressure (BP) control changed over the 2010s decade is unclear. We assessed whether 90-day BP control changed from 2011 to 2019, and whether temporal changes varied by ethnicity and sex.

Methods

We conducted a prospective cohort study of 1,755 first expert-adjudicated stroke cases ≥45 years in the Brain Attack Surveillance in Corpus Christi (BASIC) project with BP measurements from 2011-2019. We measured BP in patients’ residences at ∼90 days post-stroke using standardized procedures and validated oscillometric devices. The average of three BP measurements was used. Outcomes were BP control <130/80 mmHg (primary) and BP control<140/90 mmHg (secondary). We used inverse probability weights to account for attrition due to 90-day mortality and non-participation in study interviews. Using logistic regression, we examined the association between BP control and time (year) and demographic differences in trends through interactions with time adjusting for patient factors.

Results

Median age was 66 years (interquartile range, 58-76 years), 59% were Mexican American, 49% were women. From 2011 to 2019, BP control <130/80 mmHg declined from 43.0% to 28.6% (P<0.001). Odds of BP control <130/80 mmHg decreased over time (odds ratio per one-year increase, 0.95; 95% CI, 0.91, 0.99) after adjustment for patient factors. BP control <140/90 mm Hg remained consistent at 59.3% in 2011 and 57.1% in 2019 (P=0.31). Odds of BP control <140/90 mm Hg appeared constant over time after adjustment for patient factors (odds ratio per one-year increase, 1.00; 95% CI, 0.96, 1.04). Trends in BP control <130/80 mmHg and <140/90 mmHg did not significantly differ by ethnicity or sex.

Conclusions

From 2011 to 2019, BP control <130/80 mmHg decreased and BP control <140/90 mmHg did not improve in patients 90 days after stroke. Results suggest stroke survivors need effective, sustainable strategies to achieve BP control.

AHA Journals Subject Terms

Cerebrovascular Disease/Stroke, Blood Pressure, Quality and Outcomes, Health Services
Prediction and prognosis of delayed cerebral ischemia via continuous monitoring of blood-brain barrier permeability
Authors: Zhang Chao , Tang Wenjuan , Cheng Liang , Yang Chen , Wang Ting , Wang Juan , Miao Zhuang , Zhao Xintong , Fang Xinggen , Zhou Yunfeng
Published: February 2023

Background

Blood-brain barrier disruption is a prominent pathological characteristic of aneurysmal subarachnoid hemorrhage (aSAH), which can be measured as Ktransusing CT perfusion.

Purpose

To monitor Ktranswithin 24 hours of aSAH and during the time window associated with a delayed cerebral ischemia (DCI) event (DCITW), and to explore its association with the trajectory of DCI, including outcome at three months.

Methods

We retrospectively assessed consecutive aSAH patients from a prospective database between July 2020 and September 2022. Patients were grouped according to the DCI occurrence and three months modified Rankin scale. Ktransat admission (admission Ktrans) and during DCITW (DCITW Ktrans) were compared between DCI and non-DCI groups, and between good outcome and poor outcome groups. The changes in Ktranswere also analyzed. Multivariate logistic regression analysis was performed to identify independent predictors of DCI and poor outcome.

Results

One hundred and twenty-eight patients (mean age, 61±12 [SD]; 75 women) were included. Both admission Ktrans(0.58±0.18 vs 0.47±0.12,P=0.002) and DCITW Ktrans(0.54±0.19 vs 0.41±0.14,P<0.001) were significantly higher in the DCI group compared with the non-DCI group. Both of those were also higher in the poor outcome group compared with the good outcome group, but the difference was not statistically significant at admission (0.53±0.18 vs0.49±0.14,P=0.198). Ktransin the non-DCI group (0.47±0.12 vs 0.41±0.14,P=0.004) and good outcome group (0.49±0.14 vs 0.41±0.14,P<0.001) decreased significantly from admission to DCITW. Multivariate analysis identified DCITW Ktransand admission Ktransas independent predictors of poor outcome (OR=1.73, 95%CI: 1.24-2.43,P=0.001) and DCI (OR=1.75, 95%CI: 1.25-2.44,P=0.001), respectively.

Conclusion

Elevated Ktransat admission is associated with the occurrence of DCI, but not with outcome at three months. Continuous monitoring of Ktransfrom admission to DCITW can accurately identify reversible and irreversible changes in Ktrans, and can predict outcome.
TheNR5A1/SF-1variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development
Authors: de Lapiscina Idoia Martinez , Kouri Chrysanthi , Aurrekoetxea Josu , Sanchez Mirian , Elzenaty Rawda Naamneh , Sauter Kay-Sara , Camats Núria , Grau Gema , Rica Itxaso , Rodriguez Amaia , Vela Amaia , Cortazar Alicia , Alonso-Cerezo M. Concepción , Bahillo Pilar , Berthod Laura , Esteva Isabel , Castaño Luis , Flück Christa E.
Published: February 2023

Steroidogenic factor 1 (SF-1,NR5A1) plays an important role in human sex development. Variants ofNR5A1/SF-1 may cause mild to severe differences of sex development (DSD) or may be found in healthy carriers. So far, the broad DSD phenotypic variability associatedNR5A1/SF-1 variants remains a conundrum. TheNR5A1/SF-1 variant c.437G>C/p.Gly146Ala is common in individuals with a DSD and has been suggested to act as a susceptibility factor for adrenal disease or cryptorchidism. However, as the allele frequency in the general population is high, and as functional testing of the p.Gly146Ala variantin vitrorevealed inconclusive results, the disease-causing effect of this variant has been questioned. However, a role as a disease modifier in concert with other gene variants is still possible given that oligogenic inheritance has been described in patients withNR5A1/SF-1 gene variants. Therefore, we performed next generation sequencing in DSD individuals harboring theNR5A1/SF-1 p.Gly146Ala variant to search for other DSD-causing variants. Aim was to clarify the function of this variant for the phenotype of the carriers. We studied 14 pediatric DSD individuals who carried the p.Gly146Ala variant. Panel and whole-exome sequencing was performed, and data were analyzed with a specific data filtering algorithm for detecting variants inNR5A1- and DSD-related genes. The phenotype of the studied individuals ranged from scrotal hypospadias and ambiguous genitalia in 46,XY DSD to typical male external genitalia and ovotestes in 46,XX DSD patients. Patients were of African, Spanish, and Asian origin. Of the 14 studied subjects, five were homozygous and nine heterozygous for theNR5A1/SF-1 p.Gly146Ala variant. In ten subjects we identified either a clearly pathogenic DSD gene variant (e.g. inAR, LHCGR) or one to four potentially deleterious variants that likely explain the observed phenotype alone (e.g. inFGFR3, CHD7, ADAMTS16). Our study shows that most individuals carrying theNR5A1/SF-1 p.Gly146Ala variant, harbor at least one other deleterious gene variant which can explain the DSD phenotype. This finding confirms that the p.Gly146Ala variant ofNR5A1/SF-1may not contribute to the pathogenesis of DSD and qualifies as a benign polymorphism. Thus, individuals, in whom theNR5A1/SF-1 p.Gly146Ala gene variant has been identified as the underlying genetic cause for their DSD in the past, should be re-evaluated with a next-generation sequencing method to reveal the real genetic diagnosis.
Rett Syndrome in Ireland: A demographic study
Authors: Zade Komal , Campbell Ciara , Bach Snow , Fernandes Hazel , Tropea Daniela
Published: February 2023

Rett syndrome (RTT) is a rare neuropsychiatric condition associated to mutations in the gene coding for the methyl-CpG-binding protein 2 (MECP2). It is primarily observed in girls and affects individuals globally. The understanding of the neurobiology of RTT and patient management has been improved by studies that describe the demographic and clinical presentation of patients with RTT. However, in Ireland, there is a scarcity of data regarding patients with RTT, which impedes the ability to fully characterize the Irish RTT population. Together with the Rett Syndrome Association of Ireland (RSAI), we prepared a questionnaire to determine the characteristics of RTT patients in Ireland. Twenty families have participated in the study to date, providing information about demographics, genetics, familial history, clinical features, and regression. The main finding of this study is the limited number of genetic tests conducted to support the clinical diagnosis of RTT. The results shows that Irish patients with RTT have comparable presentation with respect to patients in other countries, however, they had a better response to anti-epileptic drugs and fewer skeletal deformities were reported. Nonetheless, seizures, involuntary movements and regression were more frequently observed in Irish patients. Despite the limited sample size, this study is the first to characterise the RTT population in Ireland and highlights the importance of genetic testing for patients with RTT in order to sharpen the characterization of the phenotype and increase the visibility of Irish patients in the international RTT community.
23-year trends indicate low rates of antimicrobial resistance inSalmonellaParatyphi A
Authors: Sajib Mohammad S. I. , Tanmoy Arif M. , Hooda Yogesh , Rahman Hafizur , Munira Sira J. , Sarkar Anik , Das Dipu , Rahman Md. Asadur , Islam Nazrul , Shahidullah Mohammod , Amin Md. Ruhul , Alam Md. Jahangir , Hanif Mohammed , Luby Stephen P. , Garrett Denise O. , Saha Samir K. , Saha Senjuti
Published: February 2023

Background

Typhoid and paratyphoid remain common bloodstream infections in areas with suboptimal water and sanitation infrastructure. Paratyphoid, caused bySalmonellaParatyphi A, is less prevalent than typhoid and its antimicrobial resistance (AMR) trends are less documented. Empirical treatment for paratyphoid is commonly based on the knowledge of susceptibility ofSalmonellaTyphi, which causes typhoid. Hence, with rising drug resistance inSalmonellaTyphi, last-line antibiotics like ceftriaxone and azithromycin are prescribed for both typhoid and paratyphoid. Here, we report 23-year AMR trends ofSalmonellaParatyphi A in Bangladesh.

Methods

From 1999 to 2021, we conducted enteric fever surveillance in two major pediatric hospitals and three clinics in Dhaka, Bangladesh. Blood cultures were performed at the discretion of the treating physicians; cases were confirmed by culture, serological and biochemical tests. Antimicrobial susceptibility was determined following CLSI guidelines.

Results

Over 23 years, we identified 2,725 blood culture-confirmed paratyphoid cases. Over 97% of the isolates were susceptible to ampicillin, chloramphenicol, and cotrimoxazole, and no isolate was resistant to all three. No resistance to ceftriaxone was recorded, and >99% of the isolates were sensitive to azithromycin. A slight increase in minimum inhibitory concentration (MIC) is noticed for ceftriaxone but current average MIC is 32-fold lower than the resistance cut-off. Over 99%, of the isolates exhibited decreased susceptibility to ciprofloxacin.

Conclusions

SalmonellaParatyphi A has remained susceptible to most antibiotics, unlikeSalmonellaTyphi, despite widespread usage of many antibiotics in Bangladesh. The data can guide evidence-based policy decisions for empirical treatment of paratyphoid fever.
Analyzing the Influencing Factors on Quality of Life of Older People with Swallowing Dysfunction in Nursing Homes in China
Authors: Li Qianru , Li Laiyou , Sun Ning , Wang Hongyin , Chen Shuangqin , Li Hongyu , Yang Shuang
Published: February 2023

Objective

To investigate the prevalence of dysphagia among the older adult population in nursing homes and unravel the relevant factors that precipitate quality of life of the older adults with swallowing dysfunction in nursing homes.

Methods

Based on 102 individuals aged 50 years or older, with dysphagia, and who were admitted in community nursing home, we examined the demographic characteristic, the nutritional indices and the possible quality of life related variables through a cross-sectional study.

Results

The reliability and validity of the C-DHI scale were proven high. The incidence of swallowing disorder risk in the older adult population of care institutions is 90.2%, and the incidence of nutrition risk and malnutrition is 67.64%. The general linear regression results show that the standard regression coefficient of FOIS is −2.75,P=0.007. The standard regression coefficient of nutritional methods is −3.84,P=0.000, and the difference was statistically significant, indicating that the C-DHI scale was negatively correlated with FOIS and nutrition methods.

Conclusions

Swallowing disorders are also identified as a major problem amongst the older adult population in nursing homes, as there is a high prevalence of dysphagia among this population group. There are many factors related to the quality of life. The swallowing mechanism changes significantly as people age, even in the absence of chronic diseases. More attention to controllable influencing factors would improve the quality of life of older adults with swallowing dysfunction.
Hypertension among persons living with HIV — Zambia, 2021; A cross-sectional study of a national electronic health record system
Authors: Hines Jonas Z. , Prieto Jose Tomas , Itoh Megumi , Fwoloshi Sombo , Zyambo Khozya D. , Zachary Dalila , Chitambala Cecilia , Minchella Peter A. , Mulenga Lloyd B. , Agolory Simon
Published: February 2023

Background

Hypertension is a major risk factor for cardiovascular disease, which is a common cause of death in Zambia. Data on hypertension prevalence in Zambia are scarce and limited to specific geographic areas and/or populations. We measured hypertension prevalence among persons living with HIV (PLHIV) in Zambia using a national electronic health record (EHR) system.

Methods

We did a cross-sectional study of hypertension prevalence among PLHIV aged ≥18 years in Zambia during 2021. Data were extracted from the SmartCare EHR, which covers ∼90% of PLHIV on treatment in Zambia. PLHIV with ≥2 recorded blood pressure (BP) readings in 2021 were included. Hypertension was defined as ≥2 elevated BP readings (i.e., systolic BP of ≥140 mmHg or diastolic BP of ≥90 mmHg) during 2021 and/or on anti-hypertensive medication recorded in their EHR in the past five years. Multivariable logistic regression was used to assess associations between hypertension and independent variables.

Results

Among 750,098 PLHIV aged ≥18 years with ≥2 visits in SmartCare during 2021, 101,363 (13.5%) had ≥2 blood pressure readings recorded in their EHR. Among these PLHIV, 14.7% (95% confidence interval [CI]: 14.5-14.9) had hypertension during 2021. Only 8.9% of PLHIV with hypertension had an anti-hypertensive medication recorded in their EHR. The odds of hypertension were greater in older age groups compared to PLHIV aged 18-29 years (adjusted odds ratio [aOR] for 30-44 years: 2.6 [95% CI: 2.4-2.9]; aOR for 45-49 years: 6.4 [95% CI: 5.8-7.0]; aOR for ≥60 years: 14.5 [95% CI: 13.1-16.1]), urban areas (aOR: 1.9 [95% CI: 1.8-2.1]), and persons prescribed ART for ≥6-month at a time (aOR: 1.1 [95% CI: 1.0-1.2]).

Discussion

Hypertension was common among a cohort of PLHIV in Zambia, with few having documentation of being on antihypertensive treatment. Most PLHIV were excluded from the analysis because of missing BP measurements in their EHR. Strengthening integrated management of non-communicable diseases in ART clinics might help to diagnose and treat hypertension in Zambia. Data completeness needs to be improved to routinely capture cardiovascular disease risk factors, including blood pressure readings consistently for PHLIV in their EHRs.
Factors associated with adverse outcomes among patients hospitalized at a COVID-19 treatment center run by Médecins sans Frontières in Herat, Afghanistan
Authors: Klein Ana , Bastard Mathieu , Hemat Hamayoun , Singh Saschveen , Muniz Bruno , Manangama Guyguy , Alayyan Amber , Tamanna Abdul Hakim , Barakzaie Bashir , Popal Nargis , Zmarial Kakar Mohammad Azeem , Poulet Elisabeth , Finger Flavio
Published: February 2023

Background

Though many studies on COVID have been published to date, data on COVID-19 epidemiology, symptoms, risk factors and severity in low- and middle-income countries (LMICS), such as Afghanistan are sparse.

Objective

To describe clinical characteristics, severity, and outcomes of patients hospitalized in the MSF COVID-19 treatment center (CTC) in Herat, Afghanistan and to assess risk factors associated with severe outcomes.

Methods

1113 patients were included in this observational study between June 2020 and April 2022. Descriptive analysis was performed on clinical characteristics, complications, and outcomes of patients. Univariate description by Cox regression to identify risk factors for an adverse outcome was performed. Adverse outcome was defined as death or transfer to a level 3 intensive care located at another health facility. Finally, factors identified were included in a multivariate Cox survival analysis.

Results

A total of 165 patients (14.8%) suffered from a severe disease course, with a median time of 6 days (interquartile range: 2-11 days) from admission to adverse outcome. In our multivariate model, we identified male gender, age over 50, high O2 flow administered during admission, lymphopenia, anemia and O2 saturation <=93% during the first three days of admission as predictors for a severe disease course (p<0.05).

Conclusion

Our analysis concluded in a relatively low rate of adverse outcomes of 14.8%. This is possibly related to the fact, that the resources at an MSF-led facility are higher, in terms of human resources as well as supply of drugs and biomedical equipment, including oxygen therapy devices, compared to local hospitals. Predictors for severe disease outcomes were found to be comparable to other settings.
An Investigation into Discomfort and Fatigue Related to the Wearing of an EEG Neurofeedback Headset
Authors: Hanzal Simon , Tvrda Lucie , Harvey Monika
Published: February 2023

Self-regulating brain activity using electroencephalography (EEG) neurofeedback has the potential to improve cognitive functions, rehabilitate motor control and reduce chronic fatigue. Nonetheless, user experience and factors which may interfere with the beneficial effects of neurofeedback are still under researched. This preliminary study aimed to investigate whether wearing an EEG neurofeedback recommended headset for 1 hour induced significant physical discomfort and fatigue. Data were obtained from a standard visual analogue scale questionnaire and a newly developed EEG headset discomfort (EEGhd) questionnaire. 21 participants (12 in the experimental (headset) and 9 in the control (electrodes only) group) watched a nature documentary video while their brain signals were recorded. They completed the set of questionnaires before and after the video, while wearing the EEG headset (or electrodes). A two-sample t-test revealed that the experimental group experienced significantly higher EEGhd than the controls (p < .001). Participants reported the onset of discomfort after approximately 25 minutes. These results highlight the importance of assessing user experience and accounting for physical discomfort when designing an EEG neurofeedback study.
The phenomenology of auditory verbal hallucinations in schizophrenia assessed with the MiniVoiceQuestionnaire (MVQ)
Authors: Hugdahl Kenneth , Hjelmervik Helene , Weber Sarah , Sandøy Lydia Brunvoll , Bless Josef , Lilleskare Lin , Craven Alexander , Hirnstein Marco , Kazimierczak Katarzyna , Dwyer Gerard , Dumitru Magda L. , Sinceviciute Igne , Ersland Lars , Johnsen Erik
Published: February 2023

We used a 10-question self-report questionnaire, Mini Voice Questionnaire (MVQ), for mapping the phenomenology of auditory verbal hallucinations (AVH). The MVQ contains questions related to daily AVH frequency and duration, the events preceding AVH episode onset and offset, the very first AVH episode, emotional content, coping strategies, if the voice comes from the inside or outside of head, if it is one’s own voice heard, and whether the voice is present when filling out the questionnaire. Forty-one patients with a diagnosis of schizophrenia spectrum disorder participated in the study. The construction of the MVQ was originally driven by an interest in whether AVH-episode onsets and offsets, that is, the coming and going of the voice, are initiated by specific environmental events or mental states, or whether they occur spontaneously, which could have both theoretical and clinical implications. MVQ scores were correlated with PANSS and BAVQ questionnaire scores. The results showed that specific events do not precede onset or offset of AVH episodes except for the very first episode which was often associated with trauma or other negative events. This finding could have implications for neurobiological models of AVH, showing that AVH episodes are spontaneously initiated, pointing to a neuronal origin of AVH episode onsetsandoffsets. The P3 (hallucinatory behavior) item of the PANSS questionnaire correlated significantly with frequency and duration of AVH episodes: More frequent and longer AVH episodes were associated with higher P3 scores, implying more severe symptoms. The results are discussed in terms of recent AVH models.
COVID-19 Vaccine Acceptance in Nigeria: A Rapid Systematic Review and Meta-Analysis
Authors: Nnaemeka Victory Chizaram , Okafor Nnenna Audrey , Orababar Oluwatosin Qawiyy , Anikwe Ruth , Onwe Reuben Ogba , Uzochukwu Nneka Patricia , Tsiterimam Thomas Sambo , Nwokoye Nkiru Nenye , Ike Anthony Chibuogwu
Published: February 2023

Widespread COVID-19 vaccination is essential to maintaining pandemic control. However, low- and lower-middle-income countries (LMICs) continue to face challenges to care due to unequal access and vaccine fear despite the introduction of safe and effective immunizations. This study aimed to collect information on Nigeria’s COVID-19 vaccine uptake rates and determinants. Science Direct, PubMed, Google Scholar, African Journal Online, Springer, and Hinari were all systematically searched through and completed in May 2022. Quality assessments of the listed studies were performed using the eight-item Joanna Briggs Institute Critical Appraisal tools for cross-sectional studies. In addition, we undertook a meta-analysis to calculate pooled acceptance rates with 95% confidence intervals (CI). Forty-two studies in total satisfied the inclusion criteria and were reviewed. A total of 24,533 respondents were studied. The total sample size of states in the Northern, Western and Southern parts of Nigeria are 3,206, 4,527 and 5,059, respectively, while 11,741 is the cumulative sample size of all the Nigeria-wide studies. The total COVID-19 vaccination acceptance rate among all the study groups was 52.4% (95% CI: 46.9-57.9%,I2= 100%), while the total estimated COVID-19 vaccination hesitancy rates was 47.81% (95% CI: 42.2 – 53.4%I2= 100%). In Nigeria-regions sub-group analyses, the Western region (58.90%, 95% CI: 47.12–70.27%) and Northern region (54.9%, 95% CI: 40.11%–69.4%) showed the highest rates of vaccine acceptance and vaccine hesitancy respectively. The COVID-19 vaccine acceptance rate was highest in 2020, with a pooled rate of 59.56% (46.34, 57.32%,I2= 98.7%). The acceptance rate in 2021 was only 48.48 (40.78%, 56.22%), while for the studies in 2022, it increased to 52.04% (95% CI: 35.7%, 68.15 %). The sensitization of local authorities and the dissemination of more detailed information about the COVID-19 vaccine and its safety, could significantly increase the country’s vaccination rate.
Does early childhood BCG vaccination improve survival into adulthood in a population with a low tuberculosis prevalence? Quasi-experimental evidence on non-specific effects from 39 Swedish birth cohorts
Authors: Theilmann Michaela , Geldsetzer Pascal , Bärnighausen Till , Sudharsanan Nikkil
Published: February 2023

The Bacillus Calmette–Guérin (BCG) vaccine for tuberculosis (TB) is widely used globally. Many high-income countries discontinued nationwide vaccination policies as the TB prevalence decreased. However, there is continued interest in whether the general childhood immunity boost conferred by the BCG vaccination impacts adult health and mortality in low-TB contexts (known as non-specific effects) and whether BCG vaccination should be continued as a population policy. While recent studies found evidence of an association between BCG vaccination and later-life survival, it is unclear whether these associations are causal or driven by unobserved characteristics of those who chose to voluntarily vaccinate. We use the abrupt discontinuation of mandatory BCG vaccination in Sweden in 1975 as a natural experiment to estimate the causal non-specific effect of the BCG vaccine on long-term cohort survival. Applying two complementary study designs, we find no evidence that survival to age 30 was affected by the discontinuation of childhood BCG vaccination. The results are consistent in the male and female subpopulations and are robust to several sensitivity and falsification tests. Overall, despite interest and prior correlational studies suggesting large non-specific effects, we do not find any population-level evidence for a non-specific effect of the BCG vaccine discontinuation on long-term survival in Sweden.
Post Stroke Motor Recovery Genome Wide Association Study:A Domain-Specific Approach
Authors: Aldridge Chad M. , Robynne Braun , Keene Keith L. , Hsu Fang-Chi , Sale Michele M. , Worrall Bradford B.
Published: February 2023

Background

In this genome wide association study (GWAS) we aimed to discover single nucleotide polymorphisms (SNPs) associated with motor recovery post-stroke.

Methods

We used the Vitamin Intervention for Stroke Prevention (VISP) dataset of 2,100 genotyped patients with non-disabling stroke. Of these, 488 patients had motor impairment at enrollment. Genotyped data underwent strict quality control and imputation. The GWAS utilized logistic regression models with generalized estimating equations (GEE) to leverage the repeated NIH Stroke Scale (NIHSS) motor score measurements spanning 6 time points over 24 months. The primary outcome was a decrease in the motor drift score of ≥ 1 vs.<1 at each timepoint. Our model estimated the odds ratio of motor improvement for each SNP after adjusting for age, sex, race, days from stroke to visit, initial motor score, VISP treatment arm, and principal components.

Results

Although no associations reached genome-wide significance (p<5 × 10−8), our analysis detected 115 suggestive associations (p<5 × 10−6). Notably, we found multiple SNP clusters near genes with plausible neuronal repair biology mechanisms. The CLDN23 gene had the most convincing association which affects blood-brain barrier integrity, neurodevelopment, and immune cell transmigration.

Conclusion

We identified novel suggestive genetic associations with the first ever motor-specific post stroke recovery GWAS. The results seem to describe a distinct stroke recovery phenotype compared to prior genetic stroke outcome studies that use outcome measures, like the mRS. Replication and further mechanistic investigation are warranted. Additionally, this study demonstrated a proof-of-principle approach to optimize statistical efficiency with longitudinal datasets for genetic discovery.