bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
Authors: Rumman Nisreen , Fassad Mahmoud R. , Driessens Corine , Goggin Patricia , Abdelrahman Nader , Adwan Adel , Albakri Mutaz , Chopra Jagrati , Doherty Regan , Fashho Bishara , Freke Grace M. , Hasaballah Abdallah , Jackson Claire L. , Mohamed Mai A. , Abu Nema Reda , Patel Mitali P. , Pengelly Reuben J. , Qaaqour Ahmad , Rubbo Bruna , Thomas N. Simon , Thompson James , Walker Woolf T. , Wheway Gabrielle , Mitchison Hannah M. , Lucas Jane S. 
Published: March 2023

BackgroundDiagnostic testing for primary ciliary dyskinesia (PCD) started in 2013 in Palestine. We aimed to describe the diagnostic, genetic and clinical spectrum of the Palestinian PCD population.MethodsIndividuals with symptoms suggestive of PCD were opportunistically considered for diagnostic testing: nasal nitric oxide (nNO) measurement, transmission electron microscopy (TEM) and/or PCD genetic panel or whole-exome testing. Clinical characteristics of those with a positive diagnosis were collected close to testing including forced expiratory volume in 1 s (FEV1) Global Lung Index z-scores and body mass index z-scores.Results68 individuals had a definite positive PCD diagnosis, 31 confirmed by genetic and TEM results, 23 by TEM results alone, and 14 by genetic variants alone. 45 individuals from 40 families had 17 clinically actionable variants and four had variants of unknown significance in 14 PCD genes. CCDC39,DNAH11andDNAAF11were the most commonly mutated genes. 100% of variants were homozygous. Patients had a median age of 10.0 years at diagnosis, were highly consanguineous (93%) and 100% were of Arabic descent. Clinical features included persistent wet cough (99%), neonatal respiratory distress (84%) and situs inversus (43%). Lung function at diagnosis was already impaired (FEV1z-score median −1.90 (−5.0–1.32)) and growth was mostly within the normal range (z-score mean −0.36 (−3.03–2.57). 19% individuals had finger clubbing.ConclusionsDespite limited local resources in Palestine, detailed geno- and phenotyping forms the basis of one of the largest national PCD populations globally. There was notable familial homozygosity within the context of significant population heterogeneity.
What bothers severe asthma patients most? A paired patient–clinician study across seven European countries
Authors: Ainsworth Ben , Chatburn Eleanor , Bansal Aruna T. , Fulton Olivia , Hamerlijnck Dominique , Coleman Courtney , Eger Katrien , Hyland Michael , Holmes Joshua , Heaney Liam , Sedlák Vratislav , Škrgat Sabina , Edelbaher Natalija , ten Brinke Anneke , Porsbjerg Celeste , Gaga Mina , Loureiro Claudia , Djukanovic Ratko , Berret Emmanuelle , Kwon Namhee 
Published: March 2023

IntroductionSevere asthma is a complex, multidimensional disease. Optimal treatment, adherence and outcomes require shared decision-making, rooted in mutual understanding between patient and clinician. This study used a novel, patient-centred approach to examine the most bothersome aspects of severe asthma to patients, as seen from both perspectives in asthma registries.MethodsAcross seven countries, 126 patients with severe asthma completed an open-ended survey regarding most the bothersome aspect(s) of their asthma. Patients’ responses were linked with their treating clinician who also completed a free-text survey about each patient's most bothersome aspect(s). Responses were coded using content analysis, and patient and clinician responses were compared. Finally, asthma registries that are part of the SHARP (Severe Heterogeneous Asthma Research collaboration, Patient-centred) Clinical Research Collaboration were examined to see the extent to which they reflected the most bothersome aspects reported by patients.Results88 codes and 10 themes were identified. Clinicians were more focused on direct physical symptoms and were less focused on “holistic” aspects such as the effort required to self-manage the disease. Clinicians accurately identified a most bothersome symptom for 29% of patients. Agreement was particularly low with younger patients and those using oral corticosteroids infrequently. In asthma registries, patient aspects were predominantly represented in questionnaires.ConclusionsResults demonstrated different perspectives and priorities between patients and clinicians, with clinicians more focused on physical aspects. These differences must be considered when treating individual patients, and within multidisciplinary treatment teams. The use of questionnaires that include multifaceted aspects of disease may result in improved asthma research.
Homocysteine levels correlate with AVSS-RigiScan test parameters in men with erectile dysfunction
Authors: Qian Xin , Tao Xing , Gong Yangyang , Ran Can , Feng Yougang , Liu Hongjian 
Published: March 2023

Abstract
Background
Although elevated homocysteine levels have been shown to affect penile erection, the relationship between homocysteine and erection at the tip or base of the penis has not been extensively studied.

Results
We found that homocysteine levels were negatively correlated with the average event rigidity of the base (r = -0.2225, p = 0.0142). Homocysteine levels were also negatively correlated with the average maximum rigidity of the base (r = -0.2164, p = 0.0171). In particular, homocysteine levels were negatively correlated with ∆ Tumescence of the tip (r = -0.1866, p = 0.0404). Similarly, homocysteine was negatively correlated with ∆ Tumescence of the base (r = -0.2257, p = 0.0128).

Conclusion
Our data showed that homocysteine inhibits penile erection. At the same time, homocysteine levels were negatively correlated with the parameters of the AVSS-RigiScan test.
Study of the error correction capability of multiple sequence alignment algorithm (MAFFT) in DNA storage
Authors: Xie Ranze , Zan Xiangzhen , Chu Ling , Su Yanqing , Xu Peng , Liu Wenbin 
Published: March 2023

AbstractSynchronization (insertions–deletions) errors are still a major challenge for reliable information retrieval in DNA storage. Unlike traditional error correction codes (ECC) that add redundancy in the stored information, multiple sequence alignment (MSA) solves this problem by searching the conserved subsequences. In this paper, we conduct a comprehensive simulation study on the error correction capability of a typical MSA algorithm, MAFFT. Our results reveal that its capability exhibits a phase transition when there are around 20% errors. Below this critical value, increasing sequencing depth can eventually allow it to approach complete recovery. Otherwise, its performance plateaus at some poor levels. Given a reasonable sequencing depth (≤ 70), MSA could achieve complete recovery in the low error regime, and effectively correct 90% of the errors in the medium error regime. In addition, MSA is robust to imperfect clustering. It could also be combined with other means such as ECC, repeated markers, or any other code constraints. Furthermore, by selecting an appropriate sequencing depth, this strategy could achieve an optimal trade-off between cost and reading speed. MSA could be a competitive alternative for future DNA storage.
Associations of sleeping, sedentary and physical activity with phenotypic age acceleration: a cross-sectional isotemporal substitution model
Authors: Han Mengying , Fang Jiaxin , Zhang Yixin , Song Xingxu , Jin Lina , Ma Yanan 
Published: March 2023

Abstract
Background
Physical activity was believed to be associated with reduced aging among adults, while the competing nature of the physical activity and sedentary behavior has mainly been neglected in studies. We aimed to estimate the association of sleeping, sedentary behavior, and physical activity with aging among adults, considering the competing nature between variables of activity status.

Methods
A total of 5288 participants who were 20 years or older from the National Health and Nutrition Examination Survey were involved. The questionnaire was used to collect data regarding sociodemographics (age, sex, ethnicity/race, and education), and lifestyle behaviors (smoking, drinking). The Global Physical Activity Questionnaire was used to measure self-reported time for sedentary behavior, walking/bicycling, and moderate-to-vigorous physical activity (MVPA). The sleeping duration was obtained via interview. Phenotypic age acceleration (PhenoAgeAccel) was calculated as an aging index using nine chemistry biomarkers. Isotemporal substitution models using multivariable linear regression to examine the associations of sleeping, sedentary behavior, and physical activity with PhenoAgeAccel, stratified by MVPA (< 150 min/week, ≥ 150 min/week).

Results
Thirty minutes per day spent on sedentary behavior was positively associated with PhenoAgeAccel (β = 0.07, 95% CI: 0.04, 0.11), and 30 min/day spent on leisure-time MVPA was adversely associated with PhenoAgeAccel (β =  − 0.55, 95% CI: − 0.73, − 0.38). Replacing 30 min/day sedentary behaviors with 30 min/day of MVPA (β = -3.98, 95% CI: -6.22, -1.74) or 30 min/day of walking/bicycling (β = -0.89, 95% CI: -1.10, -0.68) was adversely associated with PhenoAgeAccel. Substituting 30 min/day of walking/bicycling for 30 min/day of leisure-time MVPA was positively associated with PhenoAgeAccel (β = 3.09, 95% CI: 0.93, 5.25).

Conclusion
Sedentary behavior was positively associated with aging. Replacing sedentary behaviors with walking/bicycling or MVPA was adversely associated with aging among adults.
Brief and long co-incubation of sperm and oocytes for in vitro fertilization: a meta-analysis of randomized controlled trials
Authors: Fan Yiyue , Wu Zeyu , Peng Fang , Peng Hongyao , Liang Xin , Zhu Shaomi 
Published: March 2023

Abstract
Background
There is still no consensus on the optimal time of oocyte–sperm co-incubation during in vitro fertilization and embryo transfer (IVF-ET). The aim of this meta-analysis was to compare the effects of brief (1-6 h) and long (16-24 h) gametes co-incubation time on IVF outcomes.

Methods
The study protocol was registered online through PROSPERO (CRD42022337503) and PRISMA guidelines were followed in the present study. The following databases were searched from inception to May 2022 for randomized controlled trials (RCTs): PubMed, Embase, Cochrane library, Web of Science, using search terms related to IVF, gametes, time of co-incubation and reproductive outcome measure. Studies comparing outcomes of brief co-incubation to that of long co-incubation during IVF, and reporting primary outcome (live birth rate), secondary outcomes (clinical pregnancy rate; ongoing pregnancy rate; miscarriage rate; normal fertilization rate; polyspermy rate; top-quality embryo rate; implantation rate) were searched. A total of 11 studies were included in the meta-analysis. Combined odds ratio (OR) and 95% confidence interval (CI) were calculated for the data. Statistical heterogeneity analysis between studies was assessed by Cochran Q and I2 statistic with a significant threshold of P < 0.05. Methodologic quality assessment of RCTs was made for potential risk of bias with Cochrane Risk of Bias Tool.

Results
Compared to long-term co-incubation, brief co-incubation had an advantage in increasing implantation rate (OR: 1.97, 95% CI: 1.52–2.57), ongoing pregnancy rate (OR: 2.18, 95% CI: 1.44–3.29) and top-quality embryo rate (OR: 1.17, 95% CI: 1.02–1.35). However, brief co-incubation of gametes had no advantages in the live-birth rate (OR: 1.09, 95% CI: 0.72–1.65), miscarriage rate (OR: 1.32, 95% CI: 0.55–3.18), clinical pregnancy rate (OR: 1.36, 95% CI: 0.99–1.87) and polyspermy rate (OR: 0.80, 95% CI: 0.48–1.33) than long-term co-incubation. Additionally, the brief co-incubation was associated with lower normal fertilization rate (OR: 0.89, 95% CI: 0.80–0.99), compared with long co-incubation.

Conclusions
Brief co-incubation of gametes had the advantages in increasing implantation rate, ongoing pregnancy rate and top-quality embryo rate than long-term co-incubation. However, the live-birth rate displayed no difference between the two in vitro fertilization methods. Gametes co-incubation time should be individualized according to each patient’s IVF history, infertility causes and the semen parameters.
Lifestyle and the hypertensive disorders of pregnancy in nulliparous women in the United States: a secondary data analysis of the nuMom2b
Authors: Mollard Elizabeth , Cottrell Constance 
Published: March 2023

Abstract
Background
Hypertensive disorders of pregnancy are a leading cause of maternal and fetal morbidity and mortality and a significant risk factor for future cardiovascular disease development in women. This study aimed to explore lifestyle wellness-related variables and how they impact the risk of hypertension in pregnancy.

Methods
This is a secondary analysis of data from the prospective cohort study Nulliparous Pregnancy Outcomes Study: Monitoring Mothers-To-Be (nuMoM2b). Data was collected through questionnaires, clinical evaluations, and medical records review at 8 academic medical centers in the United States. Four study visits were scheduled throughout the participant’s pregnancy (visits one–four): 60–136, 160–216, and 220–296 weeks gestation and birth. A series of statistical modeling and logistical regression were performed using 15 lifestyle variables related to sleep, nutrition, resilience, illness avoidance, and physical activity were selected as predictor variables with an outcome variable of hypertension.

Results
Of 9289 nulliparous participants considered for inclusion in our analyses, 1464 had any HDP during study participation, and 554 participants had complete data available for the study and were included in our final sample. Results were statistically significant at a level of p < 0.05. Of the sleep variables, snoring at visit 1 increased the risk of hypertension in pregnancy. Greater vegetable consumption reported at visit one decreased risks of hypertension in pregnancy. Physical activity reported at visit two and visit three were associated with decreased risk of hypertension. Physical activity reported at visit three combined with more hours of sleep each night, or through napping habit reported at visit one decreased hypertension risk. Increased fish oil consumption combined with more hours of sleep at visit one increased odds of hypertension in pregnancy.

Conclusions
Our results support that lifestyle wellness-related variables relating to sleep, physical activity and nutrition affect hypertension in pregnancy. The studied variables and others should be considered in future research and intervention development to reduce hypertension in pregnancy and improve maternal wellness.
Influence of clusterin genetic variants on IOP elevation in pseudoexfoliation syndrome and pseudoexfoliative glaucoma in Turkish population
Authors: Demirdöğen Birsen Can , Demirkaya-Budak Sinem 
Published: March 2023

Abstract
Purpose
Pseudoexfoliation syndrome (PEX) is distinguished by the deposition of fibrillary material within the aqueous humor and, in most cases, causes pseudoexfoliative glaucoma (PEG). The pathophysiologies of PEX and PEG are not completely explained. Therefore, this study aimed to assess the potential relationship between single nucleotide polymorphisms (SNPs) in the 3ʹ untranslated region or introns of the clusterin gene (CLU) and the susceptibility to developing PEG or PEX.

Methods
Two hundred and forty patients with PEX, 239 patients with PEG, and 240 control subjects were included. Genotyping was carried out using real-time PCR (rs2279590 C/T and rs1532278 C/T) or PCR followed by restriction endonuclease digestion (rs11136000 C/T and rs3087554 T/C).

Results
The minor alleles or genotypes of CLU SNPs were not significantly associated with PEX or PEG. IOP values of patients with PEX carrying the homozygote polymorphic TT genotype were significantly elevated compared with PEX cases with the CT or CC genotypes for rs2279590, rs11136000 and rs1532278 (P = .009, P = .007, P = .010, respectively).

Conclusion
We present the first evidence that three SNPs in CLU gene (rs2279590, rs11136000 and rs1532278) might induce a rise in IOP in patients with PEX, conferring susceptibility to develop PEG.
Telecommuting-related health outcomes during the COVID-19 pandemic in South Korea: a national population-based cross-sectional study
Authors: Ryoo Seung-Woo , Min Jin-Young , Lee Dong-Wook , Choi Baek-Yong , Choi Juho , Kim Ho-Yeon , Min Kyoung-Bok 
Published: March 2023

Abstract
Background
Telecommuting has expanded greatly during the COVID-19 pandemic. Since the advent of remote working from home, there has been an ongoing controversy about the positive or negative health-related impact of telecommuting. This study aimed to investigate change in the occupational health risk in South Korean workers involved in telecommuting during the pandemic period compared to daily commuters.

Methods
A population-based cross-sectional study of South Korean workers using the secondary data from the 6th Korean Working Conditions Survey (2020–2021) was designed. A total of 12,354 white-collar wage employees were selected as the study sample. Telecommuting, depression, anxiety, insomnia, fatigue, musculoskeletal pain, headache-eye strain, absenteeism, and presenteeism were measured by self-reported data. Multiple logistic regression models, including gender stratification analysis, were used to estimate the adjusted odds ratio (AOR) with a 95% confidence interval (CI) for the health outcomes of telecommuters.

Results
Among the study population, 338 males and 318 females were reported to be telecommuters. The entirely adjusted regression model showed a positive association between telecommuting and anxiety (AOR = 2.82; 95% CI, 1.93–4.10), insomnia (AOR = 1.93; 95% CI, 1.27–2.92), fatigue (AOR = 1.76; 95% CI, 1.30–2.37), musculoskeletal pain (AOR = 1,76; 95% CI, 1.33–2.32), headache-eye strain (AOR = 1.94; 95% CI, 1.48–2.54), presenteeism (AOR = 1.66; 95% CI, 1.20–2.28) respectively. Gender difference was identified in that only female telecommuters had a higher risk of depression (AOR = 1.62; 95% CI, 1.04–2.53) and insomnia (AOR = 2.07; 95% CI, 1.26–3.41) than daily commuters in the adjusted model.

Conclusion
Telecommuting was significantly associated with an increased risk of various health problems among South Korean workers and females were identified as a more vulnerable group. Although further research is required to ascertain the causal relationship, public health intervention should be considered to prevent the negative effects of telecommuting.
Risk of ischemic and hemorrhagic stroke in relation to cold spells in four seasons
Authors: Vaičiulis Vidmantas , Jaakkola Jouni J. K. , Radišauskas Ričardas , Tamošiūnas Abdonas , Lukšienė Dalia , Ryti Niilo R. I. 
Published: March 2023

Abstract
Background
Cold winter weather increases the risk of stroke, but the evidence is scarce on whether the risk increases during season-specific cold weather in the other seasons. The objective of our study was to test the hypothesis of an association between personal cold spells and different types of stroke in the season-specific context, and to formally assess effect modification by age and sex.

Methods
We conducted a case-crossover study of all 5396 confirmed 25–64 years old cases with stroke in the city of Kaunas, Lithuania, 2000–2015. We assigned to each case a one-week hazard period and 15 reference periods of the same calendar days of other study years. A personal cold day was defined for each case with a mean temperature below the fifth percentile of the frequency distribution of daily mean temperatures of the hazard and reference periods. Conditional logistic regression was applied to estimate odds ratios (OR) and 95% confidence intervals (95% CI) representing associations between time- and place-specific cold weather and stroke.

Results
There were positive associations between cold weather and stroke in Kaunas, with each additional cold day during the week before the stroke increases the risk by 3% (OR 1.03; 95% CI 1.00–1.07). The association was present for ischemic stroke (OR 1.05; 95% CI 1.01–1.09) but not hemorrhagic stroke (OR 0.98; 95% CI 0.91–1.06). In the summer, the risk of stroke increased by 8% (OR 1.08; 95% CI 1.00–1.16) per each additional cold day during the hazard period. Age and sex did not modify the effect.

Conclusions
Our findings show that personal cold spells increase the risk of stroke, and this pertains to ischemic stroke specifically. Most importantly, cold weather in the summer season may be a previously unrecognized determinant of stroke.
Signet ring cell-like diffuse large B-cell lymphoma involving the breast: a case report
Authors: Zhang Lu , Min Qinqin , Bi Jiaxin , Yu Xuewen , Liang Yingying , Shao Mumin 
Published: March 2023

Abstract
Background
Diffuse large B-cell lymphoma (DLBCL) with signet ring cell components is extremely rare. Here, we present a case of DLBCL with signet ring cell components involving the breast, which can be easily confused with invasive lobular carcinoma of the breast or metastatic signet ring cell carcinoma of gastrointestinal origin.

Case presentation
A 66-year-old woman presented with a painless mass in her left breast. Enhanced magnetic resonance imaging (MRI) of the breast revealed a 42 × 29 × 28 mm mass in the left breast. Histological examination revealed a diffuse or scattered arrangement of round cells mixed with signet ring-like cells. Immunohistochemically, the neoplastic cells were positive for PAX-5, CD79a, CD20, Bcl-6, and MUM-1 but and negative for cytokeratin, ER, PR, E-cadherin, and P120. The Ki-67 proliferation index was approximately 70%. Fluorescence in situ hybridisation (FISH) demonstrated non-rearrangement of Bcl-2, Bcl-6, and c-MYC genes. Immunohistochemistry and FISH examination confirmed the diagnosis of DLBCL. Subsequently, immunofluorescence showed both IgM and IgG deposits in the signet ring-like lymphocytes. After confirming the diagnosis, the patient received four courses of CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisolone) chemotherapy in a specialist hospital and achieved partial remission; however, she unfortunately died of secondary pneumocystis pneumonia infection 3 months later.

Conclusion
Malignant lymphoma with signet ring cell morphology is quite uncommon, and this variant can be a diagnostic pitfall. We emphasise that pathologists should consider lymphoma in the differential diagnosis of malignant breast tumours.