bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
Authors: Lee Henry H. C. , Latzer Itay Tokatly , Bertoldi Mariarita , Gao Guangping , Pearl Phillip L. , Sahin Mustafa , Rotenberg Alexander 
Published: April 2024

AbstractNeurodevelopment is a highly organized and complex process involving lasting and often irreversible changes in the central nervous system. Inherited disorders of neurotransmission (IDNT) are a group of genetic disorders where neurotransmission is primarily affected, resulting in abnormal brain development from early life, manifest as neurodevelopmental disorders and other chronic conditions. In principle, IDNT (particularly those of monogenic causes) are amenable to gene replacement therapy via precise genetic correction. However, practical challenges for gene replacement therapy remain major hurdles for its translation from bench to bedside. We discuss key considerations for the development of gene replacement therapies for IDNT. As an example, we describe our ongoing work on gene replacement therapy for succinic semialdehyde dehydrogenase deficiency, a GABA catabolic disorder.
Pediatric Postoperative Outcomes for Severe and Very Severe Obstructive Sleep Apnea Syndrome
Authors: Hurly Jordyn A. , Clements Anna Christina , Ryan Marisa A. , Ballard Megan , Jenks Carolyn , Sterni Laura M. , Tunkel David E. , Walsh Jonathan M. 
Published: April 2024

ObjectiveTo determine if increasing obstructive sleep apnea syndrome (OSAS) severity, as determined by preoperative polysomnography data, is an independent risk for respiratory complications and level of follow‐up care after adenotonsillectomy or tonsillectomy.MethodsA retrospective analysis of patients ≤21 years of age with severe OSAS (obstructive apnea–hypopnea index [OAHI] >10) undergoing adenotonsillectomy or tonsillectomy. Patients were categorized based on preoperative polysomnography data (PSG). Outcome measures including respiratory complications were collected via chart review. Logistic regression was used in the analysis of all parameters, and Wilcoxon Rank Sum tests were used for analysis of both OAHI and oxygen saturation nadir as continuous variables. All surgeries were performed at Johns Hopkins Hospital, a tertiary care center.ResultsWe identified 358 patients with severe OSAS who had adenotonsillectomy or tonsillectomy. OAHI >40 and oxygen saturation nadir <80% were significantly associated with postoperative respiratory complications. Increasing OAHI and O2 saturation <80% was each associated with unplanned continuous positive airway pressure (CPAP) initiations postoperatively. There was no association between hypercarbia and presence of any complications.ConclusionPatients with very severe OSAS (preoperative OAHI ≥40) as determined by preoperative PSG may be at higher risk of developing respiratory complications postoperatively. However, there does not appear to be a linear association with increasing severity of OAHI on regression analysis. Further research is needed to understand factors associated with complications in severe and very severe OAHI.Level of Evidence4 Laryngoscope, 134:4148–4155, 2024
Endoscopic Repair of Anterior Skull Base Cerebrospinal Fluid Leaks is Successful in Frail Patients
Authors: Eide Jacob G. , Kshirsagar Rijul S. , Wen Chris , Qatanani Anas , Harris Jacob , Sellers Lauren , Abello Eric H. , Douglas Jennifer E. , Palmer James N. , Adappa Nithin D. , Kuan Edward C. 
Published: April 2024

ObjectiveSurgical frailty estimates a patient's ability to withstand the physiologic stress of an intervention. There is limited data regarding the impact of frailty on endoscopic cerebrospinal fluid (CSF) leak repair.MethodsPatients undergoing CSF leak repair at two tertiary academic skull base programs were retrospectively reviewed. Demographic, treatment, and postoperative outcomes data were recorded. Frailty was calculated using validated indices, including the American Society of Anesthesiologists (ASA) classification, Charlson Comorbidity Index (CCI), and the Modified 5‐Item Frailty Index (mFI‐5). Outcomes included 30‐day medical and surgical complications and readmission.ResultsA total of 185 patients were included with 128 (69.2%) female patients and average age of 54 ± 14 years. The average body mass index was 34.6 ± 8.5. The most common identified etiology was idiopathic intracranial hypertension (IIH) in 64 patients (34.6%). A total of 125 patients (68%) underwent perioperative lumbar drain placement (primarily to measure intracranial pressures and diagnose IIH). Most patients were ASA class 3 (48.6%) with mean CCI 2.14 ± 2.23 and mFI‐5 0.97 ± 0.90. Three patients had postoperative CSF leaks, with an overall repair success rate of 98.4%. There was no association between increased frailty and 30‐day medical outcomes, surgical outcomes, or readmission (all p > 0.05).ConclusionsEndoscopic CSF leak repair in a frail population, including lumbar drain placement and bed rest, was not associated with an increased rate of complications. Previous data suggests increased complications in open craniotomy procedures in patients with significant comorbidities. This study suggests that the endoscopic approach to CSF leak repair is well tolerated in the frail population.Level of EvidenceIV Laryngoscope, 134:2713–2717, 2024
Comparative study of robust optimization model of multimaterial emergency logistics in an uncertain environment
Authors: Chen Liang 
Published: April 2024

AbstractGiven the significance of objective functions in alleviating human suffering within the humanitarian relief supply chain, it is imperative to consider both logistics costs and the cost of deprivation as ideal targets. This study investigates a multimaterial single‐cycle stochastic mixed integer model, integrating uncertainties about post‐disaster demand, supply survival, and road networks. An innovative heuristic approach is used to solve the stochastic facility location problem, which minimizes unfulfilled requests and response times in lexicographic order. This research also compares the cost‐minimization model of the pre‐positioning problem to an alternative model that maximizes demand satisfaction under resource constraints. Empirical validation through numerous case studies and solutions confirms the effectiveness and feasibility of the alternative model. The results of our experiments consistently demonstrate that the best solution provided by the alternative model not only satisfies the minimum cost model but also surpasses the conventional problem, without compromising performance. Consequently, it is crucial to avoid the cost‐minimization approach at the expense of human suffering.
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
Authors: Cho Jun Hee , Hwang Soojin , Kwak Yoon Hae , Yum Mi‐Sun , Seo Go Hun , Koh June‐Young , Ju Young Seok , Yoon Ji‐Hee , Kang Minji , Do Hyo‐Sang , Kim Soyoung , Kim Gu‐Hwan , Bae Hyunwoo , Lee Beom Hee 
Published: April 2024

AbstractBackgroundCongenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder caused by loss‐of‐function mutations of the NTRK1 gene, affecting the autonomic and sensory nervous system. Clinical manifestation is varied and includes recurrent fever, pain insensitivity, anhidrosis, self‐mutilating behavior, and intellectual disability.MethodsClinical and genetic features were assessed in two males and one female with genetically confirmed CIPA using exome or genome sequencing.ResultsCIPA symptoms including recurrent fever, pain insensitivity, and anhidrosis manifested at the age of 1 year (age range: 0.3–8 years). Two patients exhibited self‐mutilation tendencies, intellectual disability, and developmental delay. Four NTRK1 (NM_002529.3) mutations, c.851‐33T>A (p.?), c.2020G>T (p.Asp674Tyr), c.2303C>T (p.Pro768Leu), and c.574‐156_850+1113del (exons 5‐7 del) were identified. Two patients exhibited early onset and severe phenotype, being homozygous for c.851‐33T>A (p.?) mutations and compound heterozygous for c.851‐33T>A (p.?) and c.2020G>T (p.Asp674Tyr) mutation of NTRK1. The third patient with compound heterozygous mutations of c.2303C>T (p.Pro768Leu) and c.574‐156_850+1113del (exons 5‐7 del) displayed a late onset and milder clinical manifestation.ConclusionAll three patients exhibited variable phenotypes and disease severity. This research enriches our understanding of clinical and genetic aspects of CIPA, highlighting variable phenotypes and disease severity.
Modifying Effects of Genetic Variations on the Association Between Dietary Isothiocyanate Exposure and Non‐muscle Invasive Bladder Cancer Prognosis in the Be‐Well Study
Authors: Wang Zinian , Kwan Marilyn L. , Haque Reina , Singh Prashant K. , Goniewicz Maciej , Pratt Rachel , Lee Valerie S. , Roh Janise M. , Ergas Isaac J. , Cannavale Kimberly L. , Loo Ronald K. , Aaronson David S. , Quesenberry Charles P. , Zhang Yuesheng , Ambrosone Christine B. , Kushi Lawrence H. , Tang Li 
Published: April 2024

ScopeDietary isothiocyanate (ITC) exposure from cruciferous vegetable (CV) intake may improve non‐muscle invasive bladder cancer (NMIBC) prognosis. This study aims to investigate whether genetic variations in key ITC‐metabolizing/functioning genes modify the associations between dietary ITC exposure and NMIBC prognosis outcomes.Methods and resultsIn the Bladder Cancer Epidemiology, Wellness, and Lifestyle Study (Be‐Well Study), a prospective cohort of 1472 incident NMIBC patients, dietary ITC exposure is assessed by self‐reported CV intake and measured in plasma ITC‐albumin adducts. Using Cox proportional hazards regression models, stratified by single nucleotide polymorphisms (SNPs) in nine key ITC‐metabolizing/functioning genes, it is calculate hazard ratios (HRs) and 95% confidence intervals (CIs) for recurrence and progression. The rs15561 in N‐acetyltransferase 1 (NAT1) is alter the association between CV intake and progression risk. Multiple SNPs in nuclear factor E2‐related factor 2 (NRF2) and nuclear factor kappa B (NFκB) are modify the associations between plasma ITC‐albumin adduct level and progression risk (pint < 0.05). No significant association is observed with recurrence risk. Overall, >80% study participants are present with at least one protective genotype per gene, showing an average 65% reduction in progression risk with high dietary ITC exposure.ConclusionDespite that genetic variations in ITC‐metabolizing/functioning genes may modify the effect of dietary ITCs on NMIBC prognosis, dietary recommendation of CV consumption may help improve NMIBC survivorship.
Factors affecting early career registered nurses' views of building good relationships with patients: A qualitative empirical research study
Authors: Kago Reiko , Ota Katsumasa , Niimi Yukari 
Published: April 2024

AbstractAimTo clarify the factors affecting early career registered nurses' (ECRNs') views on building good nurse–patient relationships.DesignAn exploratory qualitative research design was implemented using detailed individual semi‐structured interviews.MethodsInterview data were analysed using a thematic approach based on the systematic text condensation analysis proposed by Malterud.Data SourcesEleven consenting nurses working in four hospitals.ResultsSix characteristics were identified that influenced ECRNs' perceptions of building good nurse–patient relationships: finding clues through reflection, observing patients' reactions, clarifying their role as a nurse, doing their best for the patients, treating each patient as an irreplaceable individual and receiving support.ConclusionsWe discovered that the factors affecting ECRNs' views could be divided into two categories: factors that contribute to ECRNs' views on developing positive relationships with patients, and factors that influence ECRNs' relationships with patients but do not directly lead to positive relationships. It is critical for ECRNs to reflect on their experiences of poor relationship‐building and observe patients' reactions. ECRNs seldom recognize that they have developed good relationships with their patients. It is critical to consider organizational environment and support as variables in developing a nurse–patient relationship so that the responsibility does not fall solely on ECRNs.ImplicationsThe results of this study provide clues to help ECRNs overcome difficulties in building relationships with patients. Furthermore, they can be used to develop educational programme for ECRNs. Future studies should use these findings to provide support to ECRNs and help them build relationships with patients.
The experience of Thai adolescents with depression: A qualitative study
Authors: Reangsing Chuntana , Pitchalard Khanittha , Moonpanane Katemanee , Wimolphan Pawadee 
Published: April 2024

AbstractAimPeople who have depression experience a maelstrom of emotion as they attempt to understand what is happening to them. While the experience has been quite extensively documented in adults and older individuals, there is a great deal less information available about adolescent depression experiences and reactions. The purpose of this study was to investigate the experiences of Thai‐adolescents suffering from depression.DesignInterpretative phenomenological analysis.MethodFourteen adolescents were recruited from a secondary school in Chiangrai province, Thailand. Semi‐structured interviews were carried out. Interviews were analysed using interpretative phenomenological analysis.ResultsThe following four themes were identified: (1) struggling to make sense of their situation, (2) feeling down and withdrawing, (3) contemplating self‐harm and (4) therapy as a last choice. The results point to the continuing significance of promoting psychoeducation for Thai‐adolescents with depression as well as parents, school nurses and health providers while eliminating stigma.
Psychometric properties evaluation of the Advance Care Planning Readiness Scale for community‐dwelling older adults with chronic diseases residing in suburban counties within the Chinese context
Authors: Gao Fang , Chui Ping Lei , Che Chong Chin , Xiao Li , Wang Fan 
Published: April 2024

AbstractAimTo evaluate the psychometric properties of the Advance Care Planning Readiness Scale (ACPRS‐C) within the context of community‐dwelling older adults with chronic diseases residing in suburban counties in China.DesignDescriptive, cross‐sectional survey.MethodsThe research method employed in this study is characterized as a methodological study. Self‐reported survey data were collected among community‐dwelling older adults with chronic diseases residing in suburban counties in China. Including the following psychometric characteristics, item analysis was performed using the decision value method and Pearson's correlation analysis. Content validity was assessed through expert panel evaluation. The internal consistency of the questionnaire was determined by calculating Cronbach's alpha coefficient and corrected item‐total correlation. Additionally, confirmatory factor analysis (CFA) was utilized to assess the construct validity of the ACPRS‐C.ResultsA total of 228 older adults participated in this psychometric study from August to October 2023. The item content validity index ranged from 0.80 to 1.00, while the scale content validity index was 0.945. The scale demonstrated excellent internal consistency (Cronbach's alpha = 0.931), and the correlation between items and total score was satisfactory. The structural validity was deemed robust (CFA model fit: chi‐square/df = 1.121, comparative fit index = 0.992).ConclusionThe ACPRS‐C is a scale with strong psychometric properties to assess the ACP readiness within the context of community‐dwelling older adults with chronic diseases residing in suburban counties in China. Its reliability and validity hold considerable significance for both research and clinical practice.
Does one plus one always equal two? Examining complementarities in educational interventions
Authors: Özek Umut 
Published: April 2024

AbstractPublic policies targeting individuals based on need often impose disproportionate burden on communities that lack the resources to implement these policies effectively. In an elementary school setting, I examine whether community‐level interventions focusing on similar needs and providing resources to build capacity in these communities could improve outcomes by improving the effectiveness of individual‐level interventions. I find that the extended school day policy that targets lowest‐performing schools in reading in Florida significantly improved the effectiveness of the third‐grade retention policy in these schools. These complementarities were large enough to close the gap in retention effects between targeted and higher‐performing schools.
Effect of hybridization on the mechanical performance and cost efficiency of carbon/flax bio‐hybrid composites
Authors: Masud Manzar , Mubashar Aamir 
Published: April 2024

AbstractThis research investigates the effects of fiber hybridization on the mechanical performance of carbon/flax bio‐hybrid laminates. The study comprised of manufacturing and analyzing five distinct composite laminates, comprising pure carbon and various carbon/flax configurations with symmetric and asymmetric layups. The laminates were subjected to uniaxial tensile and low‐velocity impact testing at energy levels from 30 to 75 J. Quantitative and qualitative analyses were conducted to assess the damage/failure patterns to determine the changes due to hybridization and stacking sequence. The experimental results revealed that integrating flax layers into different bio‐hybrid configurations significantly influences their strength, stiffness and impact resistance. One of symmetric layups, having uniform distribution of flax layers throughout thickness, demonstrated the most enhanced performance. To facilitate comprehensive comparison, two indices were developed: Composite‐Performance Index (CPI) and Cost‐Effectiveness Index (CEI). These indices indicate that bio‐hybrid configurations, optimally designed with appropriate number of evenly distributed flax layers, can match or surpass performance of pure carbon layup. The study concludes that incorporating flax into carbon fiber laminates can yield substantial benefits in impact performance with slight compromise in tensile strength and stiffness. However, the overall cost efficiency of bio‐hybrid composites is superior, considering both tensile strength and impact performance.Highlights
Effect of fiber hybridization on the mechanical performance of hybrid laminates was studied.
Carbon/Flax composites exhibited slightly lower tensile strength compared to carbon‐based layup.
Symmetric layups with evenly distributed flax layers showed enhanced impact performance.
Cost efficiency of bio‐hybrid composites is superior for both tensile and impact performance.
Polyurethanes by ring‐opening polymerization initiated from alcohol moiety‐tethering acylazide
Authors: Akae Yosuke , Theato Patrick 
Published: April 2024

AbstractAn orthogonal agent having both alcohol and acylazide groups was used to construct novel polyurethanes by a simple synthetic process. Ring‐opening polymerization (ROP) of δ‐valerolactone from the orthogonal agent afforded a crystalline polymer having acylazide initiation end, while that of δ‐decanolactone resulted in an amorphous polymer. Since acylazide groups undergo thermally induced Curtius rearrangements to yield isocyanate groups, simple heating of above polymers gave macromonomers having both an isocyanate initiation end and an alcohol termination end, which afforded corresponding polyurethane by self‐polyaddition in a bulk condition without any additives. Meanwhile, kinetic analysis of the Curtius rearrangement revealed that a quantitative conversion was reached within a short reaction time, for example at 110°C for 30 min, or at 100°C for 1 h. Moreover, obtained polyurethane species showed unique self‐immolative type thermal degradation behavior. Considering the above, this orthogonal agent turned out to be useful to construct various polyurethane structures by a facile synthetic process, which would contribute to precise polymer synthesis and sequence defined polymer synthesis.
High‐flow nasal cannula during pulmonary rehabilitation for people with chronic obstructive pulmonary disease: A systematic review and meta‐analysis
Authors: Oltra Gisela , Ricciardelli Mariela , Virgilio Sacha , Fernandez Parmo Delfina , Ruiz Angélica , Liquitay Camila Micaela Escobar , Garegnani Luis 
Published: April 2024

AbstractBackgroundChronic obstructive pulmonary disease (COPD) is an increasingly concerning global public health issue due to its high burden of morbidity and mortality. Pulmonary rehabilitation (PR) is a comprehensive intervention to improve patients' physical and psychological conditions, commonly involving oxygen supplementation. The potential benefits of high‐flow nasal cannula (HFNC) have recently sparked interest as oxygen therapy. In this context, this study aims to assess the effects of HFNC during the exercise training component of a PR program in people with COPD.MethodsSystematic review (CRD42022330929). We included randomised controlled trials (RCTs), including crossover RCTs with adults with stable COPD. We included trials using oxygen therapy with HFNC during the exercise training component of a PR programme. Primary outcomes: disease‐specific health‐related quality of life (HRQoL), exercise capacity (EC) and adverse events. Secondary outcomes: treatment adherence, breathlessness and future exacerbations.ResultsWe included five studies with 300 participants with moderate to severe COPD. The certainty of the evidence was primarily low or very low for all outcomes of interest due to risk of bias, inconsistency or imprecision. HFNC has little to no difference in HRQoL (4 studies, 129 participants, MD 0.17, 95% CI −1.20 to 1.54; I2 50%). HFNC may result in little to no difference in EC (3 studies, 212 participants, mean difference 18.73, 95% CI −20.49 to 28.94; I2 56%), and we are uncertain about the effect of HFNC on breathlessness (4 studies; 244 participants, MD of −0.07, 95% CI −0.4 to 0.26; I2 63%). Only one study with 44 participants reported a participant's withdrawal because of progressive dyspnoea during lower limb exercise.ConclusionsWe are uncertain about the effect of HFNC during the exercise component of a PR programme in HRQoL, EC or dyspnoea compared to usual care or conventional supplementary oxygen. Non‐domiciliary oxygen patients showed improvements in HRQoL, EC and dyspnoea.