bluuebunny/crossref_metadata_2025_split huggingface dataset:
17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases
Authors: Willemsen Annabelle L , Torpy David J , De Sousa Sunita M C , Falhammar Henrik , Rushworth R Louise 
Published: November 2024

Abstract

Purpose
Homozygous pathogenic variants in the CYP17A1 gene result in defective activity of the steroidogenic enzymes 17α-hydroxylase/17,20-lyase resulting in the clinical syndrome 17-OHD characterized by hypertension, hypokalemia, and disorders of sexual development. Pathogenic variants of CYP17A1 lead to complete or partial loss of enzymatic activity and clinical presentations of varying severity. This study aimed to examine relationships between CYP17A1 genotype and clinical presentation in a global cohort.

Methods
We searched PubMed and Scopus for case reports and cohort studies reporting clinical data on patients with 17-OHD published between 1988 and 2022. Of 451 studies, 178 met inclusion criteria comprising a total of 465 patients. We pooled patient data and examined associations between causative variants and their clinical presentations.

Results
There were 465 unique patients with a mean age of 18.9 (9.0) years, 52.5% (n = 244) were XY and 6.4% (n = 29) were phenotypically male. Homozygous variants were seen in 48.0% (n = 223) of patients. Common clinical presentations were hypertension (57.0%, n = 256), hypokalemia (45.4% n = 211), primary amenorrhea (38.3%, n = 178), cryptorchidism (15.3%, n = 71), and atypical genitalia (14.2%, n = 66). Frequently occurring variants included p.Y329Kfs (n = 86), p.D487_F489del (n = 44), and p.W406R (n = 39). More severe variants, such as p.Y329Kfs, were associated with hypocortisolism (P &lt; .05), combined hypokalemia and hypertension (P &lt; .01), and disordered sexual development (P &lt; .01).

Main conclusion
17-OHD is a rare, frequently misdiagnosed disease. Male patients are typically diagnosed earlier because of genital dysplasia associated with less severe variants, whereas female patients are typically diagnosed later from primary amenorrhea and hypertension. Patients presenting with disordered sexual development and hypertension should be investigated for 17-OHD.
Molecular and Clinical Profiles of Pediatric Monogenic Diabetes Subtypes: Comprehensive Genetic Analysis of 138 Patients
Authors: Zhou Qiaoli , Samadli Sama , Zhang Haoyu , Zheng Xueqin , Zheng Bixia , Zhang Aihua , Gu Wei 
Published: November 2024

Abstract

Background
Single gene variants that give rise to neonatal diabetes mellitus (NDM), maturity onset diabetes of the young (MODY), and syndromic forms of diabetes mellitus (SDM) are responsible for 3.1% to 4.2% of all diabetes cases. This single-center study with a relatively larger sample size aimed to evaluate the clinical and genetic characteristics of Chinese children with suspected monogenic diabetes (MD) using next-generation sequencing (NGS) methods.

Materials and Methods
Data were collected from 1550 consecutive children diagnosed with diabetes/hyperglycemia at the Endocrinology Department of Children's Hospital of Nanjing Medical University from 2012 to 2023. The genotype and phenotype of 138 children with suspected MD were retrospectively analyzed.

Results
Among 138 children, 16, 97, and 25 patients with NDM, suspected MODY, and SDM, respectively, were assessed by NGS, with a pick-up rate of 87.5%, 57.8%, and 56%, respectively. In total, there was a high pick-up rate of MD, with 58% (80 of 138) among antibody-negative pediatric patients. Pathogenic variants were found in GCK, HNF1A, INS, KCNJ11, INSR, HNF4A, ABCC8, WFS1, ALMS1, HNF1B, BLK, and ZFP57 genes with 13 novel variants in addition to 4 patients with copy number variants. In this cohort, GCK-MODY was the leading cause and the mildest type of MODY. GCK-MODY displayed favorable lipid profile when compared to non-GCK-MODY and MODYX, which might be cardioprotective. Following an accurate genetic diagnosis of diabetes, 19 patients switched from insulin therapy to oral agents or lifestyle interventions.

Conclusion
NGS tests helped to identify the precise etiology of monogenic diabetic patients, which has implications for better individualized management.
Vestibular Schwannoma Koos Grade I International Study of Active Surveillance Versus Stereotactic Radiosurgery: The VISAS-K1 Study
Authors: Bin-Alamer Othman , Abou-Al-Shaar Hussam , Peker Selcuk , Samanci Yavuz , Pelcher Isabelle , Begley Sabrina , Goenka Anuj , Schulder Michael , Tourigny Jean-Nicolas , Mathieu David , Hamel Andréanne , Briggs Robert G. , Yu Cheng , Zada Gabriel , Giannotta Steven L. , Speckter Herwin , Palque Sarai , Tripathi Manjul , Kumar Saurabh , Kaur Rupinder , Kumar Narendra , Rogowski Brandon , Shepard Matthew J. , Johnson Bryan A. , Trifiletti Daniel M. , Warnick Ronald E. , Dayawansa Samantha , Mashiach Elad , Vasconcellos Fernando De Nigris , Bernstein Kenneth , Schnurman Zane , Alzate Juan , Kondziolka Douglas , Sheehan Jason P. 
Published: November 2024

BACKGROUND AND OBJECTIVE:
This investigation evaluates the safety and efficacy of stereotactic radiosurgery (SRS) vs observation for Koos grade I vestibular schwannomas (VS).

METHODS:
In a multicenter study, we retrospectively analyzed data of patients with Koos grade I VS who underwent SRS (SRS group) or were observed (observation group). Propensity score matching was used to equilibrate demographics, tumor size, and audiometric data across groups. The outcome analyzed included tumor control, preservation of serviceable hearing, and neurological function.

RESULTS:
The study matched 142 patients, providing a median follow-up period of 36 months. SRS significantly enhanced tumor control compared with observation, with a 100% control rate at both 5- and 8-year marks in the SRS group vs 48.6% and 29.5% in the observation group at the same time intervals, respectively (P < .001). Preservation of serviceable hearing outcomes between groups showed no significant difference at 5 and 8 years, ensuring a comparable quality of auditory function (SRS 70.1% vs observation 53.4% at 5 years; P = .33). Furthermore, SRS was associated with a reduced likelihood of tinnitus (odds ratio [OR] = 0.46, P = .04), vestibular dysfunction (OR = 0.17, P = .002), and overall cranial nerve dysfunction (OR = 0.49, P = .03) at last follow-up.

CONCLUSION:
SRS management of patients with Koos grade I VS was associated with superior tumor control and reduced odds for cranial nerve dysfunction, while not compromising hearing preservation compared with observation. These findings support the safety and efficacy of SRS as a primary care approach for this patient population.
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches
Authors: Findlay Andrew R. 
Published: November 2024

ABSTRACT
Treatments for disabling and life-threatening hereditary muscle disorders are finally close to becoming a reality. Research has thus far focused primarily on recessive forms of muscle disease. The gene replacement strategies that are commonly employed for recessive, loss-of-function disorders are not readily translatable to most dominant myopathies owing to the presence of a normal chromosome in each nucleus, hindering the development of novel treatments for these dominant disorders. This is largely due to their complex, heterogeneous disease mechanisms that require unique therapeutic approaches. However, as viral and RNA interference-based therapies enter clinical use, key tools are now in place to develop treatments for dominantly inherited disorders of muscle. This article will review what is known about dominantly inherited disorders of muscle, specifically their genetic basis, how mutations lead to disease, and the pathomechanistic implications for therapeutic approaches.
Borg5 restricts contractility and motility in epithelial MDCK cells
Authors: Cohen David , Fernandez Dawn , Lázaro-Diéguez Francisco , Überheide Beatrix , Müsch Anne 
Published: November 2024

ABSTRACT
The Borg (or Cdc42EP) family consists of septin-binding proteins that are known to promote septin-dependent stress fibers and acto-myosin contractility. We show here that epithelial Borg5 (also known as Cdc42EP1) instead limits contractility, cell–cell adhesion tension and motility, as is required for the acquisition of columnar, isotropic cell morphology in mature MDCK monolayers. Borg5 depletion inhibited the development of the lateral F-actin cortex and stimulated microtubule-dependent leading-edge lamellae as well as radial stress fibers and, independently of the basal F-actin phenotype, caused anisotropy of apical surfaces within compacted monolayers. We determined that Borg5 limits colocalization of septin proteins with microtubules, and that like septin 2, Borg5 interacts with the rod-domain of myosin IIA (herein referring to the MYH9 heavy chain). The interaction of myosin IIA with Borg5 was reduced in the presence of septins. Because septins also mediate myosin activation, we propose that Borg5 limits contractility in MDCK cells in part by counteracting septin-associated myosin activity.
The Impact of Diagnostic Laparoscopy on Upstaging Patients with Siewert II and III Gastroesophageal Junction (GEJ) Cancer
Authors: Alcasid Nathan J. , Fink Deanna , Banks Kian C. , Susai Cynthia J. , Barnes Katherine , Wile Rachel , Sun Angela , Patel Ashish , Ashiku Simon , Velotta Jeffrey B. 
Published: November 2024

Abstract
Background
The efficacy of routine diagnostic laparoscopy with cytologic evaluation for gastroesophageal junction (GEJ) cancer is variable with no set guidelines. We hypothesize that findings from diagnostic laparoscopy in Siewert II and III GEJ tumors may differ, where routine diagnostic laparoscopy with washings yields low upstaging results in Siewert II compared with Siewert III tumors.

Patients and Methods
We reviewed patients with Siewert II/III GEJ cancer from 2012 through 2022 within our integrated health system. Chi-squared, Fisher’s exact, and two-sample Wilcoxon rank-sum tests were utilized. The outcomes measured include likelihood of upstaging, cytology positivity, times to chemotherapy and surgery, and 5-year mortality using a multivariable Cox regression model.

Results
Of 265 patients with Siewert II diagnosis, 116 patients underwent a diagnostic laparoscopy while 149 patients did not. Median time to chemotherapy initiation and definitive surgery were increased among patients with diagnostic laparoscopy, with no difference observed in 5-year survival. For patients with Siewert II and III with a diagnostic laparoscopy, 5% of Siewert II were upstaged, compared with 17% of Siewert III (p = 0.025). Obtaining cytologic washings alone were less likely to be upstaged compared with receiving a biopsy with or without washings (5.2% vs. 17.3%, p = 0.039), and those with Siewert II were less likely than Siewert III to be upstaged after diagnostic laparoscopy (5.2% vs. 17.4%, p = 0.025).

Conclusions
Routine diagnostic laparoscopy yields a low upstaging rate in Siewert II GEJ adenocarcinomas (AC) while delaying treatment with no improvement on mortality. Expediting definitive surgery with selective biopsy in lieu of diagnostic laparoscopy may improve oncologic outcomes.
Exercise in Pediatric COVID-19: A Randomized Controlled Trial
Authors: ASTLEY CAMILLA , DREZNER JONATHAN A. , SIECZKOWSKA SOFIA MENDES , IHARA AMANDA , FRANCO TATHIANE , GIL SAULO , DO PRADO DANILO MARCELO LEITE , LONGOBARDI IGOR , SUGUITA PRISCILA , FINK THAIS , LINDOSO LIVIA , MATSUO OLIVIA , MARTINS FERNANDA , BAIN VERA , LEAL GABRIELA NUNES , BADUE MARIA FERNANDA , MARQUES HELOISA HELENA , SILVA CLOVIS ARTUR , ROSCHEL HAMILTON , GUALANO BRUNO 
Published: November 2024

ABSTRACT

Purpose
This study assessed the impact of a 12-wk, home-based exercise training (HBET) program on health-related quality of life (HRQOL; primary outcome), and cardiovascular and metabolic parameters in pediatric COVID-19 patients.

Methods
This was a single-center, randomized controlled trial conducted in a tertiary hospital in Sao Paulo, from October 2020 to January 2022. Thirty-two patients (mean age, 12 ± 3.3 yr) were randomly assigned to either HBET or standard of care (CONTROL) in a 2:1 ratio 4 months (range: 0.7–6.6 months) after COVID-19 discharge (n = 25 mild, n = 4 moderate, n = 3 severe illness). The HBET group underwent supervised and unsupervised sessions three times a week for 12 wk emphasizing aerobic and body weight exercises, while the CONTROL group received standard care, which included general advice for a healthy lifestyle with no prescribed exercise intervention. HRQOL (evaluated by the Pediatric Quality of Life Inventory), cardiopulmonary exercise test, brachial endothelial function and echocardiography assessments were conducted in both groups. Statistical analysis was performed using an intention-to-treat approach for the primary analysis and complete case (per-protocol) as sensitivity analysis.The significance was set at P ≤ 0.05 and P ≤ 0.10 was considered as trend.

Results
There was no difference in HRQOL between groups. Intention-to-treat analysis indicated a trend toward increased oxygen uptake (V̇O2) at anaerobic threshold following the intervention in the HBET group. In addition, a sensitivity analysis showed significant changes in peak heart rate and 1-min recovery, respiratory exchange ratio, and chronotropic response. A trend toward significance was observed in ventilation-to-maximum voluntary ventilation ratio and chronotropic response in the HBET group. No other between-group differences were detected for the cardiopulmonary exercise test, brachial flow-mediated dilation, and echocardiography variables (all P > 0.05).

Conclusions
In this randomized controlled trial, a 12-wk HBET intervention did not impact HRQOL in pediatric COVID-19 patients. However, exercise was able to improve the V̇O2 at the ventilatory anaerobic threshold, heart rate peak and 1-min recovery, ventilation-to-maximum voluntary ventilation ratio, and chronotropic response, with no changes observed in other cardiovascular parameters. Further studies are needed to investigate the long-term effects of exercise interventions on the recovery of pediatric COVID-19 patients with and without preexisting chronic conditions.
Progesterone and Estradiol Levels Associated with Concussion and Clinical Outcomes and Recovery in Female Athletes and Cadets
Authors: GOECKNER BRYNA D. , HUBER DANIEL L. , VAN BORTEL KEARNIN , GILL JESSICA M. , MANNIX REBEKAH , MASTER CHRISTINA L. , BRETT BENJAMIN L. , PASQUINA PAUL F. , BROGLIO STEVEN P. , MCALLISTER THOMAS W. , HAREZLAK JAROSLAW , MCCREA MICHAEL A. , MEIER TIMOTHY B. 
Published: November 2024

ABSTRACT

Introduction
Female athletes are underrepresented in concussion research, and few studies have investigated associations of ovarian hormones with concussion outcomes. This study explored associations of concussion with levels and variability of progesterone, estradiol, and their ratio (P/E) and examined relationships of hormone levels with clinical measures and recovery after concussion in CARE Consortium female athletes and cadets.

Methods
Female participants enrolled (n = 749) at pre-injury baseline. Participants with concussion (mean age, 19.34 yr; n = 130, 90 athletes, 40 nonathlete cadets) completed one or more visits at nonstandardized times of day: immediately post-injury, 24 h post-injury, upon initiating the return-to-play protocol (Init RTP), and 7 d following unrestricted return-to-play (PRTP). Controls (mean age, 19.85 yr; n = 67, 61 athletes, 6 nonathlete cadets) completed similar visits. Linear mixed models and general linear models tested associations of hormone levels and/or variation with concussion status, symptoms, and recovery, controlling for self-reported birth control use at pre-injury baseline.

Results
Female participants with concussion had higher progesterone levels relative to controls on average across all visits (mean difference (MD; ln ng·mL−1) (standard error) = 0.26 (0.08), t(193) = 3.03, P = 0.003). Those with concussion had elevated estradiol at 24 h (MD = 0.27 (0.09), t(506) = 3.04, P = 0.02), Init RTP (MD = 0.38 (0.09), t(508) = 4.29, P < 0.001), and PRTP (MD = 0.30 (0.09), t(515) = 3.25, P = 0.01) relative to pre-injury baseline and compared with controls at Init RTP (MD = 0.35 (0.12), t(429) = 2.78, P = 0.006). Concussed participants had a lower range of estradiol over 7–28 d than controls (B (SE) = −0.24 (0.09), F(1,145) = 6.43, P = 0.01). Acutely after concussion, estradiol was positively associated with Brief Symptom Inventory Global Severity Index scores (B (SE) = 0.29 (0.12), F(1,102) = 5.60, P = 0.02). No significant relationships were found between hormones and recovery.

Conclusions
These results, which warrant further research, suggest that ovarian hormones may be associated with concussion and psychological symptom severity post-concussion.
A Novel Noise-Aware Classical Optimizer for Variational Quantum Algorithms
Authors: Larson Jeffrey , Menickelly Matt , Shi Jiahao 
Published: November 2024

A key component of variational quantum algorithms (VQAs) is the choice of classical optimizer employed to update the parameterization of an ansatz. It is well recognized that quantum algorithms will, for the foreseeable future, necessarily be run on noisy devices with limited fidelities. Thus, the evaluation of an objective function (e.g., the guiding function in the quantum approximate optimization algorithm (QAOA) or the expectation of the electronic Hamiltonian in variational quantum eigensolver (VQE)) required by a classical optimizer is subject not only to stochastic error from estimating an expected value but also to error resulting from intermittent hardware noise. Model-based derivative-free optimization methods have emerged as popular choices of a classical optimizer in the noisy VQA setting, based on empirical studies. However, these optimization methods were not explicitly designed with the consideration of noise. In this work we adapt recent developments from the “noise-aware numerical optimization” literature to these commonly used derivative-free model-based methods. We introduce the key defining characteristics of these novel noise-aware derivative-free model-based methods that separate them from standard model-based methods. We study an implementation of such noise-aware derivative-free model-based methods and compare its performance on demonstrative VQA simulations to classical solvers packaged in scikit-quant. History: Accepted by Giacomo Nannicini, Area Editor for Quantum Computing and Operations Research. Accepted for Special Issue. Funding: This material is based upon work supported by the U.S. Department of Energy, Office of Science, National Quantum Information Science Research Centers and the Office of Advanced Scientific Computing Research, Accelerated Research for Quantum Computing program under contract number DE-AC02-06CH11357. Supplemental Material: The software that supports the findings of this study is available within the paper and its Supplemental Information ( https://pubsonline.informs.org/doi/suppl/10.1287/ijoc.2024.0578 ) as well as from the IJOC GitHub software repository ( https://github.com/INFORMSJoC/2024.0578 ). The complete IJOC Software and Data Repository is available at https://informsjoc.github.io/ .
External-cavity diode laser at 2.6 µm and its frequency stabilization with a scanning Fabry-Pérot cavity
Authors: Ganesh Sandhya , Zhang Shengnan , Shivanand Tiwari Balsant , Singh Yeshpal 
Published: November 2024

We report on the construction of an external cavity diode laser at 2.6 µm wavelength and its frequency stabilization with an external scanning Fabry-Pérot cavity using Pound-Drever-Hall (PDH) frequency stabilization technique. We discuss the frequency noise characteristics of the laser using the PDH residual error signal analysis and the locking performance. We have achieved a 2.5 x 105 suppression factor in the frequency noise power spectral density at Fourier frequencies lower than 100 Hz when the laser is stabilized. The laser is employed to observe resonant excitation on the 5s5p3P0 →5s4d3D1 transition in cold 88Sr atoms trapped in a magneto-optical trap. We have observed an enhancement in the trapped atom number by a factor of 8.3 compared to the case when a single laser at 707 nm is employed for repumping.
Serious adverse events reported with benzimidazole derivatives: A disproportionality analysis from the World Health Organization’s pharmacovigilance database
Authors: Modingam Pamella , Faillie Jean-Luc , Campillo Jérémy T. 
Published: November 2024

Background
Benzimidazole derivatives are widely used anthelmintic drugs, particularly in mass campaigns for intestinal parasitosis treatment. Despite their generally good safety profile, serious adverse reactions have been reported. This study aims to identify potential pharmacovigilance signals for benzimidazole derivatives using disproportionality analysis in the WHO database.

Methodology
A case/non-case study was conducted using data from the WHO VigiBase database (2000–2023). Cases were individual case safety reports (ICSRs) where at least one suspected serious adverse event of interest was reported, while non-cases were ICSRs reporting any adverse events other than the serious adverse events of interest. Reporting Odds Ratios (RORs) and 95% confidence intervals were calculated to assess disproportionate reporting. Analyses were adjusted for potential confounding factors and a sensitivity analysis with imputed missing data was performed.

Principal findings
Among 19,068 serious reports analyzed, significant disproportionality signals were found for benzimidazole derivatives compared to other anthelmintic drugs, notably for bone marrow failure and hypoplastic anemia (adjusted ROR 9.44 [5.01–18.9]), serious leukopenia (3.89 [2.64–5.76]), serious hepatic disorders (3.10 [2.59–3.71]), hepatitis (2.88, 95% CI 2.29–3.63) and serious urticaria (2.02, 95% CI 1.36–2.99). We have also highlighted a new signal not mentioned in the summaries of product characteristics for seizures with benzimidazole derivatives. Secondary analysis revealed these signals were primarily reported with albendazole.

Conclusions/Significance
This study identified potential pharmacovigilance signals for serious hematological and hepatic adverse events for benzimidazole derivatives, particularly albendazole. New signal for benzimidazole derivatives has been described for seizures. These findings underscore the need for vigilant monitoring during benzimidazole derivatives use and warrant further pharmacoepidemiologic studies to confirm these signals and investigate underlying mechanisms.
Antiracist Journalism: The Challenge of Creating Equitable Local News, Andrea Wenzel (2023)
Authors: Baker Andrea Jean 
Published: November 2024

Review of: Antiracist Journalism: The Challenge of Creating Equitable Local News, Andrea Wenzel (2023)
New York: Columbia University Press, 304 pp.,
ISBN 978-0-23120-969-4, p/bk, USD 35.00
ISBN 978-0-23120-968-7, h/bk, USD 140.00
ISBN 978-0-23155-806-8, e-book, USD 34.99
Transnational Broadcasting in the Indo Pacific: The Battle for Trusted News and Information, Alexandra Wake (ed.) (2024)
Authors: Josephi Beate 
Published: November 2024

Review of: Transnational Broadcasting in the Indo Pacific: The Battle for Trusted News and Information, Alexandra Wake (ed.) (2024)
London: Palgrave Macmillan, 227 pp.,
ISBN 978-3-03147-570-2, h/bk, AUD 169.00
ISBN 978-3-03147-571-9, e-book, AUD 157.94