The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

“…All participants received srGS, while lrGS was applied to a subset to resolve technically challenging regions unclear from srGS and provide phasing information for potential compound heterozygous variants. …”
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AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecogniz... by Raquel M. Zimmerman, Edgar J. Hernandez, Mark Yandell, Martin Tristani-Firouzi, Robert M. Silver, William Grobman, David Haas, George Saade, Jonathan Steller, Nathan R. Blue

“…Results Feature selection identified the 16 most informative variables, which yielded a PGM with good overall performance in the validation cohort (AUC 0.83, 95% CI 0.79–0.87), including among “N of 1” unique scenarios (AUC 0.81, 0.72–0.90). …”
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Prevalence of depression and its correlates among undergraduate health science students in Mogadishu, Somalia: a cross-sectional study by Bashiru Garba, Samiro Ali Mohamed, Maria Mowlid Mohamed, Hodo Aideed Asowe, Najib Isse Dirie, Yushau Umar, Jamal Hassan Mohamoud, Mohamed Hussein Adam, Jihaan Hassan, Fartun Abdullahi Hassan Orey, Abdullahi Abdirahman Omar, Ibrahim Abdullahi Mohamed, Mohamad Mustaf Ahmed, Samira Abdullahi Moalim

“…However, there is a scarcity of information in this regard in higher education institutions in Somalia. …”
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Pilot study of a comprehensive multidisciplinary inpatient-based approach to smoking cessation in patients with vascular disease by Tanner Kim, MD, Anand Brahmandam, MBBS, Dana Alameddine, MD, Rachel Forman, MD, Amin Hardik, MD, Lisa Fucito, PhD, Carlos Mena-Hurtado, MD, Raul Guzman, MD, Cassius Iyad Ochoa Chaar, MD, MS, MPH

“…Subjects completed surveys related to smoking habits and mental health, including the Fagerstrom test for nicotine dependence and Patient-Reported Outcomes Measurement Information System questionnaire, respectively. Patients were provided free nicotine replacement therapy for 4 weeks. …”
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Using multiomic integration to improve blood biomarkers of major depressive disorder: a case-control studyResearch in context by Amazigh Mokhtari, El Chérif Ibrahim, Arnaud Gloaguen, Claire-Cécile Barrot, David Cohen, Margot Derouin, Hortense Vachon, Guillaume Charbonnier, Béatrice Loriod, Charles Decraene, Ipek Yalcin, Cynthia Marie-Claire, Bruno Etain, Raoul Belzeaux, Andrée Delahaye-Duriez, Pierre-Eric Lutz

“…Importantly, they also demonstrated that performance progressively increased with the number of molecular datasets considered. Interpretation: Informational gain from multiomic integration had already been documented in other medical fields. …”
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Deep learning helps discriminate between autoimmune hepatitis and primary biliary cholangitis by Alessio Gerussi, Oliver Lester Saldanha, Giorgio Cazzaniga, Damiano Verda, Zunamys I. Carrero, Bastian Engel, Richard Taubert, Francesca Bolis, Laura Cristoferi, Federica Malinverno, Francesca Colapietro, Reha Akpinar, Luca Di Tommaso, Luigi Terracciano, Ana Lleo, Mauro Viganó, Cristina Rigamonti, Daniela Cabibi, Vincenza Calvaruso, Fabio Gibilisco, Nicoló Caldonazzi, Alessandro Valentino, Stefano Ceola, Valentina Canini, Eugenia Nofit, Marco Muselli, Julien Calderaro, Dina Tiniakos, Vincenzo L’Imperio, Fabio Pagni, Nicola Zucchini, Pietro Invernizzi, Marco Carbone, Jakob Nikolas Kather

“…In addition, there is need for quantitative assessment of information embedded in liver biopsies, which are currently evaluated on qualitative or semi-quantitative methods. …”
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Validation of the version 4.5 MAESTRO ozone and NO₂ measurements by P. S. Jeffery, J. R. Drummond, C. T. McElroy, K. A. Walker, J. Zou

“…The version 4.5 retrieval algorithm represents an improvement from previous versions, with changes including updated pressure and temperature input information, an improved algorithm for high-Sun reference spectrum calculation, improved Rayleigh scattering modelling, and the change to a Twomey–Tikhonov inversion algorithm from a Chahine relaxation technique. …”
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Quantifying uncertainties in satellite NO₂ superobservations for data assimilation and model evaluation by P. Rijsdijk, P. Rijsdijk, P. Rijsdijk, H. Eskes, A. Dingemans, A. Dingemans, K. F. Boersma, K. F. Boersma, T. Sekiya, K. Miyazaki, S. Houweling, S. Houweling

“…Furthermore, we account for systematic errors in the retrievals leading to error correlations between nearby individual observations contributing to one superobservation. Correlation information is typically missing from the retrieval products, where an error estimate is provided for individual observations. …”
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The effectiveness of providing training and ongoing support to foster cultural humility in volunteers serving as mentors to youth of color: a mixed-methods study protocol by Bernadette Sánchez, Amy J. Anderson, Carla Herrera, David L. DuBois, Kay Thursby Bourke, Jean K. Sack, So Jung Lee, Karen Burchwell, Lidia Y. Monjaras-Gaytan, Yesenia Garcia-Murillo

“…The aim of the intervention activities is to enhance the capacity of mentors to have more culturally responsive and informed interactions with their mentees of color, thereby strengthening the youth’s ethnic/racial identity and abilities to both cope with experiences of racism and contribute to causes that advance social justice. …”
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A longitudinal cohort study on dispensed analgesic and psychotropic medications in older adults before, during, and after the COVID-19 pandemic: the HUNT study by Tanja Louise Ibsen, Ekaterina Zotcheva, Sverre Bergh, Debby Gerritsen, Gill Livingston, Hilde Lurås, Svenn-Erik Mamelund, Anne Marie Mork Rokstad, Bjørn Heine Strand, Richard C. Oude Voshaar, Geir Selbæk

“…This indicates that in high-income countries, such as Norway, home-dwelling vulnerable individuals seem to have received adequate care. …”
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Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia by Mary Kay Koenig, Vincenzo Leuzzi, Riadh Gouider, Riadh Gouider, Eppie M. Yiu, Eppie M. Yiu, Barbara Pietrucha, Asbjørg Stray-Pedersen, Susan L. Perlman, Steve Wu, Trudy Burgers, Rupam Borgohain, Rukmini Mridula Kandadai, Isabelle Meyts, Giorgia Bucciol, Anaita Udwadia-Hegde, Ravi Yadav, Donna Roberts, Aaron Dane, Maureen Roden, Dirk Thye, Biljana Horn, Howard M. Lederman, William P. Whitehouse

“…Values for glucose, HbA1c, cortisol, and CD4+ lymphocyte counts did not show clinically significant changes during prolonged treatment with EryDex.ConclusionThe most common treatment-related adverse events were transient infusion-related pruritus and iron deficiency. There was a decline in BMD which could not be distinguished from the natural course of disease. …”
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Systematic Risk Analysis and Mitigation Strategies for Near-Miss Events in Interventional Operating Room Nursing by Ma LY, Shan RF, Lu Y, Cong LY, Gu HY

“…The risk factors were ranked as follows: weak coordination ability and lack of responsibility among nurses > operational interruptions > inadequate professional capability > poor communication between medical staff and nurses > equipment malfunction > frequent emergency surgeries and a fast paced working environment.Conclusion: Medication administration errors are frequently encountered, with air embolisms during pressurized fluid infusion representing the most significant risk. Operational interruptions are major contributors to these errors, often influenced by the coordination skills and professional competencies of nurses. …”
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Antiplasmodial and Cytotoxic Activities of Extracts of Selected Medicinal Plants Used to Treat Malaria in Embu County, Kenya by Bibianne Waiganjo, Gervason Moriasi, Jared Onyancha, Nelson Elias, Francis Muregi

“…Furthermore, the costs associated with conventional approach of managing malaria are arguably high especially for persons living in low-income countries, hence the need for alternative and complementary approaches. …”
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Pre-existing IgG antibodies to HCoVs NL63 and OC43 Spike increased during the pandemic and after COVID-19 vaccination by Zahra Hasan, Kiran Iqbal Masood, Marc Veldhoen, Shama Qaiser, Marta Alenquer, Mishgan Akhtar, Sadaf Balouch, Junaid Iqbal, Yaqub Wassan, Shahneel Hussain, Khalid Feroz, Sajid Muhammad, Atif Habib, Akbar Kanji, Erum Khan, Afsar Ali Mian, Rabia Hussain, Maria Joao Amorim, Zulfiqar A. Bhutta

“…Preexisting immunity may be associated with increased protection against non-related pathogens such as, SARS-CoV-2. There is little information regarding endemic human coronaviruses (HCOVs) from Pakistan, which experienced a relatively low COVID-19 morbidity and mortality. …”
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The usage of personalized scheme of fentanyl administration during coronary artery stenting by D.О. Dziuba

“…Analgesic sedation at the level of conscious anesthesia (ІІІ by Ramsey) was maintained by propofol infusion. Results. The usage of a personalized scheme of fentanyl administration for stenting of the coronary arteries, compared to the standard sedation using combination of diazepam and fentanyl, was accompanied by better indicators of intraoperative blood saturation with oxygen and carbon dioxide (respectively (103.67 ± 22.05) and (39.64 ± 6.85) mm Hg in group 1, (105.70 ± 31.64) and (37.68 ± 7.11) in group 2 and (109.42 ± 34.36) and (36.25 ± 6.52) mm Hg in patients of the 3rd group), lower blood pressure after surgery ((127.85 ± 9.87)/(79.64 ± 8.62) mm Hg in patients of group 1, (129.48 ± 8.73)/(81.05 ± 7.92) mm Hg in group 2 and (131.15 ± 10.64)/(82.68 ± 9.72) mm Hg in group 3), lower level of stress markers (blood cortisol during surgery in patients of the 1st group (8.83 ± 4.58) mmol/L, in patients of the 2nd group – (7.73 ± 2.79) mmol/L, in patients of the 3rd group – (7.55 ± 4.35) mmol/L), as well as lower frequency of detecting episodes of perioperative pain of various origins. …”
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Community-based HPV self-collection versus visual inspection with acetic acid in Uganda: a cost-effectiveness analysis of the ASPIRE trial by Joel Singer, Angeli Rawat, Heather Armstrong, Josaphat Byamugisha, Gina S Ogilvie, Alex K Mezei, Heather N Pedersen, Stephen Sy, Catherine Regan, Sheona M Mitchell-Foster, Musa Sekikubo, Jane J Kim, Nicole G Campos

“…In both arms, VIA was performed at the local health unit by midwives with VIA-positive women receiving immediate treatment with cryotherapy.Design We informed a Monte Carlo simulation model of HPV infection and cervical cancer with screening uptake, compliance and retrospective cost data from the ASPIRE trial; additional cost, test performance and treatment effectiveness data were drawn from observational studies. …”
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A structured review and analysis of the researches conducted in the field of productivity changes in units with undesirable output using the Malmquist Luenberger productivity index by Mohammad Alimoradi, Seyed Mohammad Ali Khatami Firouzabadi, Maghsoud Amiri, Iman Raeesi Vanani

“…This research is a review type that was conducted through searching in domestic and foreign databases such as academic information, Scopus, Science Direct, Elsevier, and Google Scholar in the period from 1980 to 2022 with the approach of selecting the most important, valid, and prominent domestic and foreign scientific and applied articles and researches.Findings: In terms of the quantity and quality of the articles, the present article seems to be unprecedented and unique because, due to the breadth and diversity of published articles and research, the void of the current structured research among the published efforts is quite noticeable, and by using this article, on the one hand, researchers can study the latest actions and research efforts in the mentioned field in a completely categorized and structured manner, and on the other hand, the existing scientific gaps and future proposals regarding the evaluation of benefits. …”
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Immune and genomic biomarkers of immunotherapy response in cancer of unknown primary by Madhu Singh, Linda Mileshkin, Penelope Schofield, Bo Gao, Gary Richardson, Andrew Pattison, Rodney J Hicks, Niko Thio, Mark Warren, Colin Wood, Stephen B Fox, Anna DeFazio, Andrew Fellowes, Christopher Steer, David Bowtell, Nicholas Wilcken, Tharani Sivakumaran, Atara Posner, Dariush Etemadmoghadam, Krista Fisher, Samantha Webb, Christos S Karapetis, Ian M Collins, Narayan Karanth, Owen W J Prall, Richard William Tothill

“…ICI responsive cancer types were assigned based on Food and Drug Administration-approved indications, and either detection of a latent primary tumor or the TOO was suspected based on genomics informed pathology review. Tumor mutation burden (TMB) and gene mutations were also assessed.Results A total of 219 patients with CUP were included, 215 assessed for TOO in a previous study, with the majority (163) receiving both RNA and DNA tests. …”
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Spatial analysis of measles cases and vaccination coverage in the Somali region, eastern Ethiopia by Abdilahi Ibrahim Muse, Abdilahi Ibrahim Muse, Mahdi Yonis Kayat, Mohamed Harir Aden, Jemal Beksisa Shuramu, Shikur Mohammed, Musse Ahmed Ibrahim, Musse Ahmed Ibrahim, Binyam Mohammedbirhan Berhe, Ahmed Abdi Kalinle, Sahardiid Ali Abdilahi

“…It can be prevented by two doses of the measles vaccine, either alone or in combination with measles-rubella (MR), which is a low-cost strategy for lowering morbidity and mortality among children.ObjectivesTo conduct spatial analysis of measles cases and vaccination coverage in the Somali region, Eastern Ethiopia.MethodsThis retrospective study was done by using public health emergency directorate measles data from 2022 to 2023 and four years (July 2019–July 2023) of vaccination data from district health information system version 2.36. After the data completeness and consistency were ensured, it was cleaned and recoded. …”
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The temporal change of heat exposure and adaptation capacity in Chinese adults from 1994 to 2023 by Xiaohui Ji, Haomin Tan, Shaoli Huang, Zhongguo Huang, Jianxiong Hu, Jianxiong Hu, Guanhao He, Fengrui Jing, Ziqiang Lin, Mengen Guo, Tao Liu, Wenjun Ma, Wenjun Ma

“…Temperature adaptation capacity increased with air conditioner ownership rates increasing from 25.40, 57.63 to 81.51% at home (Z = −44.35, p < 0.01) and from 22.24, 57.47 to 80.51% in the office/school (Z = −45.95, p < 0.01), and the older adult, women, people with low income, outdoor work, low education, and people from northern China had lower air conditioner ownership rates. …”
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