bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pattern and determinants of contraceptive use among the muslim women in Wajir and Lamu counties in Kenya: a cross-sectional study
Authors: Abdi Batula , Okal Jerry , Serour Gamal , Were Vincent , Temmerman Marleen , Gichangi Peter 
Published: January 2024

Abstract
Background
Improving access to family planning (FP) is associated with positive health benefits that includes averting nearly a third of all maternal deaths and 10% of childhood deaths. Kenya has made great strides in improving access to family planning services. However, amid this considerable progress, regional variation has been noted which begs the need for a clearer understanding of the the patterns and determinants that drive these inconsistencies.

Methods
We conducted a cross-sectional study that involved 663 Muslim women of reproductive age (15–49 years) from Wajir and Lamu counties in Kenya between March and October 2018.The objective of this study was to understand patterns and determinants of contraceptive use in two predominantly Muslim settings of Lamu and Wajir counties that have varying contraceptive uptake. Eligible women were interviewed using a semi-structured questionnaire containing socio-demographic information and history of family planning use. Simple and multiple logistic regression were used to identify determinants of family planning use. The results were presented as Crude Odds Ratio (COR) and Adjusted Odds Ratio (AOR) ratios at 95% confidence interval. A p-value of 0.05 was considered statistically significant.

Results
Of the 663 Muslim women of reproductive age consenting to participate in the study, 51.5%, n = 342 and 48.5%, n = 321 were from Lamu and Wajir County, respectively. The prevalence of women currently using contraceptive was 18.6% (n = 123). In Lamu, the prevalence was 32.8%, while in Wajir, it was 3.4%. The determinants of current contraceptive use in Lamu include; marital status, age at marriage, employment status, discussion with a partner on FP, acceptability of FP in culture, and willingness to obtain information on FP. While in Wajir, determinants of current contraceptive use were education, and the belief that family planning is allowed in Islam.

Conclusions
Our study found moderately high use of contraceptives among Muslim women of reproductive age in Lamu county and very low contraceptive use among women in Wajir. Given the role of men in decision making, it is critical to design male involvement strategy particularly in Wajir where the male influence is very prominent. It is critical for the government to invest in women and girls’ education to enhance their ability to make informed decisions; particularly in Wajir where FP uptake is low with low education attainment. Further, our findings highlight the need for culturally appropriate messages and involvement of religious leaders to demystify the myths and misconception around family planning and Islam particularly in Wajir.
Health care management adequacy among French persons with severe profound intellectual and multiple disabilities: a longitudinal study
Authors: Baumstarck Karine , Hamouda Ilyes , Aim Marie-Anastasie , Anzola Any Beltran , Khaldi-Cherif Sherezad , Felce Agnès , Maincent Kim , Lind Katia , Auquier Pascal , Billette de Villemeur Thierry , Rousseau Marie-Christine ,   and the EVAL-P. L. H. Group, Boutalbi Narjess , Dany Lionel , Heng Ponha , Julien Patrick , Kemlin Isabelle , Lenormand Stéphane , Pietra Stéphane , Roger Julie , Valkov Maria , Willocq Daniel 
Published: January 2024

Abstract
Background
The care organization of persons with profound intellectual and multiple disabilities (PIMD) varies by country according to the health care system. This study used a large sample of French individuals with severe PIMD/polyhandicap to assess: 1) the adequacy of care setting over a 5-year period and 2) health care consumption.

Methods
The longitudinal study used data from the French EVALuation PoLyHandicap (EVAL-PLH) cohort of persons with severe PIMD/polyhandicap who were receiving managed in specialized care centres and residential facilities. Two assessments were performed: wave 1 (T1) in 2015–2016 and wave 2 (T2) in 2020–2021. The inclusion criteria were as follows: age > 3 years at the time of inclusion; age at onset of cerebral lesion younger than 3 years old; and severe PIMD. The adequacy of the care setting was based on the following: i) objective indicators, i.e., adequacy for age and adequacy for health status severity; ii) subjective indicators, i.e., self-perception of the referring physician about medical care adequacy and educational care adequacy. Health care consumption was assessed based on medical and paramedical care.

Results
Among the 492 persons assessed at the 2 times, 50% of individuals at T1 and 46% of individuals at T2 were in an inadequate care setting based on age and severity. Regarding global subjective inadequacy, the combination of medical adequacy and educational adequacy, 7% of individuals at T1 and 13% of individuals at T2 were in an inadequate care setting. At T2, a majority of individuals were undermonitored by medical care providers (general practitioners, physical medicine rehabilitation physicians, neurologists, orthopaedists, etc.). Important gaps were found between performed and prescribed sessions of various paramedical care (physiotherapy, occupational therapy, psychomotor therapy, etc.).

Conclusions
This study revealed key elements of inadequate care management for persons with severe PIMD/polyhandicap in France. Based on these important findings, healthcare workers, familial caregivers, patients experts, and health decision-makers should develop appropriate care organizations to optimize the global care management of these individuals.

Trial registration
NCT02400528, registered 27/03/2015.
Unmet needs in EGFR exon 20 insertion mutations in Central and Eastern Europe: reimbursement, diagnostic procedures, and treatment availability
Authors: Hochmair Maximilian J. , Unk Mojca , Spasic Jelena , Cerić Timur , Konsoulova Assia , Dediu Mircea , Bogos Krisztina , Hegmane Alinta , Oselin Kersti , Stojiljkovic Marko , Roblek Tina , Jakopovic Marko 
Published: January 2024

AbstractLung cancer remains the leading cause of cancer-related deaths in Europe, with non-small cell lung cancer (NSCLC) accounting for approximately 85% of cases. NSCLC is a heterogeneous disease encompassing various oncogenic alterations. Among them, EGFR exon 20 insertion mutations, constituting 0.3–2.2% of NSCLC cases, rank as the third most common EGFR alteration after exon 19 deletions and the L858R point mutation in exon 21, also known as “typical” EGFR alterations. Recent advancements in understanding the molecular pathogenesis of NSCLC have led to significant breakthroughs in targeted therapies, revolutionizing treatment options for patients with specific genetic alterations.This article presents the outcomes of a Virtual Meeting conducted on the online platform (provided Within3©) from September 19 to October 30, 2022. The meeting focused on addressing the challenges in the diagnosis and treatment of NSCLC patients with EGFR exon 20 insertion mutations. The participants consisted of healthcare professionals from ten Central and Eastern European countries who shared their experiences and opinions on various aspects, including epidemiology, treatment options, and diagnostic approaches employed in their respective healthcare institutions. The discussions were facilitated through open-ended and multiple-choice questions.The primary objective of this article is to provide an overview of the identified challenges associated with the diagnosis and treatment of this heterogeneous disease, based on the assessments of the meeting participants. Among the major emerging challenges discussed, the reimbursement issues concerning next-generation sequencing (NGS), a recommended method in NSCLC molecular diagnosis, and the availability of approved targeted treatments to enhance patient outcomes were of paramount importance. Furthermore, fostering community awareness of lung cancer and promoting harmonized lung cancer care were identified as areas deserving greater attention. Notably, the rapidly evolving treatment landscape, particularly with NGS for NSCLC patients with genomic alterations like EGFR, ALK, RET, MET, NTRK, and ROS1, necessitates prioritizing the development of new drugs, even for the relatively smaller subgroup with exon 20 insertion mutations.
Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome
Authors: Yan Xu , Hu Yueyue , Zhang Xin , Gao Xia , Zhao Yang , Peng Haiying , Ouyang Liu , Zhang Changjun 
Published: January 2024

Abstract
Background
Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the exon region, variations in the intron region are rarely reported.

Methods
In our study, we employed whole exome sequencing and Sanger sequencing to genotype members of this family. Additionally, a minigene assay was conducted to evaluate the impact of genetic variants on splicing.

Results
Our findings reveal a novel intronic variant (NM_177433.3:c.1271 + 4_1271 + 7delAGTA) in intron 10 of the MAGED2 gene. Further analysis using the minigene assay demonstrated that this variant activated an intronic cryptic splice site, resulting in a 96 bp insertion in mature mRNA.

Conclusions
Our results indicate that the novel intronic variant (c.1271 + 4_1271 + 7delAGTA) in intron 10 of the MAGED2 gene is pathogenic. This expands the mutation spectrum of MAGED2 and highlights the significance of intronic sequence analysis.
Remotely supervised spirometry versus laboratory-based spirometry during the COVID-19 pandemic: a retrospective analysis
Authors: Kołtowski Łukasz , Basza Mikołaj , Bojanowicz Wojciech , Dąbrowiecki Piotr , Soliński Mateusz , Górska Katarzyna , Korczyński Piotr , Eggert Lauren E. 
Published: January 2024

Abstract
Background
The COVID-19 pandemic has constrained access to spirometry, and the inherent risk of infectious transmission during aerosol-generating procedures has necessitated the rapid development of Remotely Supervised Spirometry (RSS). This innovative approach enables patients to perform spirometry tests at home, using a mobile connected spirometer, all under the real-time supervision of a technician through an online audio or video call.

Methods
In this retrospective study, we examined the quality of RSS in comparison to conventional Laboratory-based Spirometry (LS), using the same device and technician. Our sample included 242 patients, with 129 undergoing RSS and 113 participating in LS. The RSS group comprised 51 females (39.5%) with a median age of 37 years (range: 13–76 years). The LS group included 63 females (55.8%) with a median age of 36 years (range: 12–80 years).

Results
When comparing the RSS group to the LS group, the percentage of accurate Forced Expiratory Volume in one second (FEV1) measurements was 78% (n = 101) vs. 86% (n = 97), p = 0.177; for Forced Vital Capacity (FVC) it was 77% (n = 99) vs. 82% (n = 93), p = 0.365; and for both FEV1 and FVC, it was 75% (n = 97) vs. 81% (n = 92), p = 0.312, respectively.

Conclusions
Our findings demonstrate no significant difference in the quality of spirometry testing between RSS and LS, a result that held true across all age groups, including patients aged over 65 years. The principal advantages of remote spirometry include improved access to pulmonary function tests, reduced infectious risk to curtail disease spread, and enhanced convenience for patients.
Alpha-1-antitrypsin-deficiency is associated with lower cardiovascular risk: an approach based on federated learning
Authors: Zöller Daniela , Haverkamp Christian , Makoudjou Adeline , Sofack Ghislain , Kiefer Saskia , Gebele Denis , Pfaffenlehner Michelle , Boeker Martin , Binder Harald , Karki Kapil , Seidemann Christian , Schmeck Bernd , Greulich Timm , Renz Harald , Schild Stefanie , Seuchter Susanne A. , Tibyampansha Dativa , Buhl Roland , Rohde Gernot , Trudzinski Franziska C. , Bals Robert , Janciauskiene Sabina , Stolz Daiana , Fähndrich Sebastian 
Published: January 2024

Abstract
Background
Chronic obstructive pulmonary disease (COPD) is an inflammatory multisystemic disease caused by environmental exposures and/or genetic factors. Inherited alpha-1-antitrypsin deficiency (AATD) is one of the best recognized genetic factors increasing the risk for an early onset COPD with emphysema. The aim of this study was to gain a better understanding of the associations between comorbidities and specific biomarkers in COPD patients with and without AATD to enable future investigations aimed, for example, at identifying risk factors or improving care.

Methods
We focused on cardiovascular comorbidities, blood high sensitivity troponin (hs-troponin) and lipid profiles in COPD patients with and without AATD. We used clinical data from six German University Medical Centres of the MIRACUM (Medical Informatics Initiative in Research and Medicine) consortium. The codes for the international classification of diseases (ICD) were used for COPD as a main diagnosis and for comorbidities and blood laboratory data were obtained. Data analyses were based on the DataSHIELD framework.

Results
Out of 112,852 visits complete information was available for 43,057 COPD patients. According to our findings, 746 patients with AATD (1.73%) showed significantly lower total blood cholesterol levels and less cardiovascular comorbidities than non-AATD COPD patients. Moreover, after adjusting for the confounder factors, such as age, gender, and nicotine abuse, we confirmed that hs-troponin is a suitable predictor of overall mortality in COPD patients. The comorbidities associated with AATD in the current study differ from other studies, which may reflect geographic and population-based differences as well as the heterogeneous characteristics of AATD.

Conclusion
The concept of MIRACUM is suitable for the analysis of a large healthcare database. This study provided evidence that COPD patients with AATD have a lower cardiovascular risk and revealed that hs-troponin is a predictor for hospital mortality in individuals with COPD.
Eligibility of patients with chronic obstructive pulmonary disease for inclusion in randomised control trials investigating triple therapy: a study using routinely collected data
Authors: Whittaker Hannah R. , Torkpour Aria , Quint Jennifer 
Published: January 2024

Abstract
Background
Randomised control trials (RCTs) with strict eligibility criteria can lead to trial populations not commonly seen in clinical practice. We described the proportion of people with chronic obstructive pulmonary disease (COPD) in England eligible for RCTs investigating treatment with triple therapy.

Methods
MEDLINE and Clinicaltrials.gov were searched for RCTs investigating triple therapy and eligibility criteria for each trial were extracted. Using routinely collected primary care data from Clinical Practice Research Datalink Aurum linked with Hospital Episode Statistics, we defined a population of COPD patients registered at a general practice in England, who were ≥ 40 years old, and had a history of smoking. Inclusion date was January 1, 2020. Patients who died earlier or left the general practice were excluded. Eligibility criteria for each RCT was applied to the population of COPD patients and the proportion of patients meeting each trial eligibility criteria were described.

Results
26 RCTs investigating triple therapy were identified from the literature. The most common eligibility criteria were post-bronchodilator FEV1% predicted 30–80%, ≥ 2 moderate/≥ 1 severe exacerbations 12-months prior, no moderate exacerbations one-month prior and no severe exacerbations three-months prior, and the use of maintenance therapy or ICS use prior to inclusion. After applying each RCT eligibility criteria to our population of 79,810 COPD patients, a median of 11.2% [interquartile range (IQR) 1.8–17.4] of patients met eligibility criteria. The most discriminatory criteria included the presence exacerbations of COPD and previous COPD related medication use with a median of 67.6% (IQR 8.5–73.4) and 63% (IQR 69.3–38.4) of COPD patients not meeting these criteria, respectively.

Conclusion
Data from these RCTs may not be generalisable to the wider population of people with COPD seen in everyday clinical practice and real-world evidence studies are needed to supplement trials to understand effectiveness in all people with COPD.
Stress granules affect the dual PI3K/mTOR inhibitor response by regulating the mitochondrial unfolded protein response
Authors: Lin Nan , Sun Liankun , Chai Jiannan , Qi Hang , Zhao Yuanxin , Ma Jiaoyan , Xia Meihui , Hu Xiaoqing 
Published: January 2024

AbstractDrug resistance remains a challenge in ovarian cancer. In addition to aberrant activation of relevant signaling pathways, the adaptive stress response is emerging as a new spotlight of drug resistance in cancer cells. Stress granules (SGs) are one of the most important features of the adaptive stress response, and there is increasing evidence that SGs promote drug resistance in cancer cells. In the present study, we compared two types of ovarian cancer cells, A2780 and SKOV3, using the dual PI3K/mTOR inhibitor, PKI-402. We found that SGs were formed and SGs could intercept the signaling factor ATF5 and regulate the mitochondrial unfolded protein response (UPRmt) in A2780 cells. Therefore, exploring the network formed between SGs and membrane-bound organelles, such as mitochondria, which may provide a new insight into the mechanisms of antitumor drug functions.
Unraveling the underlying pathogenic factors driving nonalcoholic steatohepatitis and hepatocellular carcinoma: an in-depth analysis of prognostically relevant gene signatures in hepatocellular carcinoma
Authors: Ni Yuan , Lu Maoqing , Li Ming , Hu Xixi , Li Feng , Wang Yan , Xue Dong 
Published: January 2024

Abstract
Background
Nonalcoholic steatohepatitis (NASH) is a progressive manifestation of nonalcoholic fatty liver disease (NAFLD) that can lead to fibrosis, cirrhosis, and hepatocellular carcinoma (HCC). Despite the growing knowledge of NASH and HCC, the association between the two conditions remains to be fully explored. Bioinformatics has emerged as a valuable approach for identifying disease-specific feature genes, enabling advancements in disease prediction, prevention, and personalized treatment strategies.

Materials and methods
In this study, we utilized CellChat, copy number karyotyping of aneuploid tumors (CopyKAT), consensus Non-negative Matrix factorization (cNMF), Gene set enrichment analysis (GSEA), Gene set variation analysis (GSVA), Monocle, spatial co-localization, single sample gene set enrichment analysis (ssGSEA), Slingshot, and the Scissor algorithm to analyze the cellular and immune landscape of NASH and HCC. Through the Scissor algorithm, we identified three cell types correlating with disease phenotypic features and subsequently developed a novel clinical prediction model using univariate, LASSO, and multifactor Cox regression.

Results
Our results revealed that macrophages are a significant pathological factor in the development of NASH and HCC and that the macrophage migration inhibitory factor (MIF) signaling pathway plays a crucial role in cellular crosstalk at the molecular level. We deduced three prognostic genes (YBX1, MED8, and KPNA2), demonstrating a strong diagnostic capability in both NASH and HCC.

Conclusion
These findings shed light on the pathological mechanisms shared between NASH and HCC, providing valuable insights for the development of novel clinical strategies.
The challenge of controlling an auditory BCI in the case of severe motor disability
Authors: Séguin Perrine , Maby Emmanuel , Fouillen Mélodie , Otman Anatole , Luauté Jacques , Giraux Pascal , Morlet Dominique , Mattout Jérémie 
Published: January 2024

Abstract
Background
The locked-in syndrome (LIS), due to a lesion in the pons, impedes communication. This situation can also be met after some severe brain injury or in advanced Amyotrophic Lateral Sclerosis (ALS). In the most severe condition, the persons cannot communicate at all because of a complete oculomotor paralysis (Complete LIS or CLIS). This even prevents the detection of consciousness. Some studies suggest that auditory brain–computer interface (BCI) could restore a communication through a « yes–no» code.

Methods
We developed an auditory EEG-based interface which makes use of voluntary modulations of attention, to restore a yes–no communication code in non-responding persons. This binary BCI uses repeated speech sounds (alternating “yes” on the right ear and “no” on the left ear) corresponding to either frequent (short) or rare (long) stimuli. Users are instructed to pay attention to the relevant stimuli only. We tested this BCI with 18 healthy subjects, and 7 people with severe motor disability (3 “classical” persons with locked-in syndrome and 4 persons with ALS).

Results
We report online BCI performance and offline event-related potential analysis. On average in healthy subjects, online BCI accuracy reached 86% based on 50 questions. Only one out of 18 subjects could not perform above chance level. Ten subjects had an accuracy above 90%. However, most patients could not produce online performance above chance level, except for two people with ALS who obtained 100% accuracy. We report individual event-related potentials and their modulation by attention. In addition to the classical P3b, we observed a signature of sustained attention on responses to frequent sounds, but in healthy subjects and patients with good BCI control only.

Conclusions
Auditory BCI can be very well controlled by healthy subjects, but it is not a guarantee that it can be readily used by the target population of persons in LIS or CLIS. A conclusion that is supported by a few previous findings in BCI and should now trigger research to assess the reasons of such a gap in order to propose new and efficient solutions.
Clinical trial registrations: No. NCT02567201 (2015) and NCT03233282 (2013).