Management of rare and undiagnosed diseases: insights from researchers and healthcare professionals in Türkiye by Sinem Durmus, Emrah Yucesan, Sinem Aktug, Begum Utz, Ahmet Okay Caglayan, Ahmet Okay Caglayan, Pinar Gencpinar, Cagatay Günay, Yavuz Oktay, Ravza Nur Yildirim, Ayca Yigit, Ugur Ozbek

“…This study provides a detailed survey analysis that sheds light on the challenges that researchers and healthcare professionals face in diagnosing, treating, managing and conducting research on RD.MethodsWe developed a national online survey with three RD stakeholder groups (Researchers, Healthcare professionals and researcher-healthcare professionals) to identify the main challenges and needs in Türkiye for the diagnosis, treatment and follow-up processes of rare and undiagnosed diseases.ResultsThe survey was completed by 363 participants, revealing that participants face key challenges such as the need to refer patients to specialized centers, financial burdens, limited access to necessary tests, inadequate support for rare disease research and a lack of interdisciplinary collaboration. …”
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A Novel Pyroptosis-Based Prognostic Model Correlated with the Parainflammatory Immune Microenvironment of Pancreatic Cancer by Kong-kong Wei, Zhi-xing Du, Jun-ge Deng, Jin-wei Yang, Hao Chen

“…KRAS and TP53 mutations participated in different inflammatory pathways and played different prognostic roles between the two risk groups. …”
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“Don’t leave us behind”: a qualitative study exploring the feasibility of a palliative care training program for non-health caregivers in Honduras by Sheryl Ruiz, Martin Stafström, Leda Parham, Luis Orellana

“…Data was collected through individual semi-structured interviews with 25 participants belonging to different key groups: patients diagnosed with cancer, non-health caregivers, PC experts, and health-related decision makers. …”
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The Efficacy of Ramucirumab in the Treatment of Gastric or Gastroesophageal Junction Cancer: A Meta-Analysis of RCTs by Hongqiong Yang, Yaojun Zhou, Liangzhi Wang, Tianyi Gu, Mengjia Lv, Jinling Sun, Chao Tu, Junbo He

“…Moreover, compared with the current first-line chemotherapy, the OS (OR=0.93, 95%CI=0.83–1.04, p=0.19) and PFS (OR=0.82, 95%CI=0.64–1.06, p=0.13) results were not significantly higher with RAM. The ORRs of the patients in the RAM therapy groups were significantly higher than those in the groups without RAM (OR=1.40, 95%CI=1.14–1.73, p=0.001).…”
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Association between cardiopulmonary bypass duration and early major adverse cardiovascular events after surgical repair of supravalvular aortic stenosis by Simeng Zhang, Caiyi Wei, Bo Peng, Lizhi Lv, Fengbo Pei, Jianming Xia, Jun Yan, Jie Liu, Qiang Wang, Yi Shi

“…Patients were stratified into “CPB duration >2 h” and “CPB duration ≤2 h” groups based on intraoperative CPB duration. …”
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Evaluation of nutritional, anthropometric, and psychological outcomes in different metabolic and bariatric surgery techniques: a follow up study by Elham Hojaji, Zahra Veysi, Shadi Naderyan Fe’li, Neda Shalbaf, Moslem Arian, Cain C. T. Clark, Ahmad Reza Dorosty Motlagh

“…The mental health of participants was done via the Symptom Checklist 90 Revised. …”
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Changes in the Parietal Lobe Subregion Volume at Various Stages of Alzheimer’s Disease and the Role in Cognitively Normal and Mild Cognitive Impairment Conversion by Fang Lu, Qing Ma, Cailing Shi, Wenjun Yue

“…Methods: We included 662 participants from the Alzheimer’s Disease Neuroimaging Initiative (ADNI) database, including 228 CN, 221 early MCI (EMCI), 112 late MCI (LMCI), and 101 AD participants. …”
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Composite cardiovascular risk factor control in US adults with diabetes and relation to social determinants of health: The All of Us research program by Frances Golden, Johnathan Tran, Nathan D. Wong

“…Significant disparities were observed across race/ethnicity, sex, and socioeconomic lines with 43.1 % of Asian participants at control for ≥3 RFs compared to 21.1 % of non-Hispanic black participants. …”
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Effectiveness of Mobilization with Movement on the Management of Knee Osteoarthritis: A Systematic Review of Randomized Controlled Trials by Gidey Gomera Weleslassie, Melaku Hailu Temesgen, Abayneh Alamer, Gebrerufael Solomon Tsegay, Teklehaimanot Tekle Hailemariam, Haimanot Melese

“…A total of 15 RCTs having 704 participants were included. The present systematic review suggests that there were significant differences between MWM groups and control groups in terms of visual analogue scale (VAS), Western Ontario and MacMaster Universities Osteoarthritis Index (WOMAC) scale, and flexion range of motion. …”
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The Expression of IL-6, TNF-α, and MCP-1 in Respiratory Viral Infection in Acute Exacerbations of Chronic Obstructive Pulmonary Disease by Jingtong Zheng, Yue Shi, Lingxin Xiong, Weijie Zhang, Ying Li, Peter G. Gibson, Jodie L. Simpson, Chao Zhang, Junying Lu, Jingying Sai, Guoqiang Wang, Fang Wang

“…Circulating levels of IL-6, TNF-α, and MCP-1 were elevated in VP and coinfection subjects (p<0.05), while the levels of 37 other cytokines showed no difference, compared with virus negative groups and controls (p>0.05). Additionally, VP patients were less likely to have received influenza vaccination. …”
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Magnetic susceptibility components reveal different aspects of neurodegeneration in alpha-synucleinopathies by Oliver C. Kiersnowski, Pietro Mattioli, Lucia Argenti, Laura Avanzino, Francesco Calizzano, Andrea Diociasi, Laura Falcitano, Chunlei Liu, Mattia Losa, Federico Massa, Silvia Morbelli, Beatrice Orso, Elisa Pelosin, Stefano Raffa, Matteo Pardini, Dario Arnaldi, Luca Roccatagliata, Mauro Costagli

“…Prodromal patients were subdivided into groups with positive or negative DaT-SPECT (SBR Z-scores below or above -1, respectively). …”
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Topological Properties of Large-Scale Cortical Networks Based on Multiple Morphological Features in Amnestic Mild Cognitive Impairment by Qiongling Li, Xinwei Li, Xuetong Wang, Yuxia Li, Kuncheng Li, Yang Yu, Changhao Yin, Shuyu Li, Ying Han

“…., sulcal depth, curvature, and metric distortion) change in aMCI patients compared with normal controls because these geometric features of cerebral cortex may be related to its intrinsic connectivity. …”
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Home-based transcranial direct current stimulation paired with cognitive training to reduce fatigue in multiple sclerosis by Leigh Charvet, Judith D. Goldberg, Xiaochun Li, Pamela Best, Matthew Lustberg, Michael Shaw, Lana Zhovtis, Josef Gutman, Abhishek Datta, Marom Bikson, Giuseppina Pilloni, Lauren Krupp

“…Both groups showed significant reductions in fatigue, with no significant difference between them. …”
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Coping Strategies in Migraine without Aura: A Cross-Sectional Study by Antonio Russo, Gabriella Santangelo, Alessandro Tessitore, Marcello Silvestro, Francesca Trojsi, Antonio De Mase, Federica Garramone, Luigi Trojano, Gioacchino Tedeschi

“…Moreover, the Perceived Stress Scale (PSS), a scale measuring self-perception of stress, global cognitive functioning, depressive symptoms, apathy, state, and trait anxiety, was administered to all participants. Results. No significant difference was found on the scales and subscales of PCI and CISS as well as in the PSS between MwoA patients and HCs. …”
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Effect of scaling on levels of interleukin 1-beta and clinical periodontal parameters among e-cigarette users and non-smokers: A prospective study by Alaa B. Alkhalifah, Nehad T. Alfuraih, Bobby Joseph, Jagan K. Baskaradoss

“…Wilcoxon signed rank test was used to assess the changes in the periodontal measurements and IL-1β levels at different time points and Mann–Whitney U Test was used to compare the two groups. Results A total of 38 individuals (18 NS and 20 ENDS users) participated in the study. …”
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Renal Complication and Glycemic Control in Korean Veterans with Type 2 Diabetes: A 10-Year Retrospective Cohort Study by Ye An Kim, Young Lee, Je Hyun Seo

“…Participants were divided into six groups according to their baseline or dynamic HbA1c levels. …”
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Determinants of Chronic Kidney Disease among Young Adults attending a Tertiary Care Hospital in Madurai- A Case-Control Study by Sridevi PN, Thirukumaran R, Kannan Muthuraman A, Arunkumar Yograj, Priya S, Hemamalini B

“…The calculated sample size was 76, which was rounded up to 100 participants in both the case and control groups. Data collection was done by using semi-structured questionnaire. …”
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Use of a Food Frequency Questionnaire for the Estimation of Gut Microbiota Composition Based on Dietary Patterns and Its Association with Irritable Bowel Syndrome Symptoms in the L... by Christie J. Bou Chacra, Sofi G. Julien

“…We observed the influence of Western diet among the three patterns that were identified. Participants were clustered into two groups based on their estimated (poor or good) microbiota composition, EPMC and EGMC, respectively. …”
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Pulp stones and kidney stones-related gene: An investigation of single nucleotide polymorphisms in the gene encoding parathyroid hormone by Prescila Mota de Oliveira Kublitski, Bruna de Souza Romano, Vania Gomes Moraes, Manoel Damião Sousa-Neto, Lívia Azeredo Alves Antunes, Erika Calvano Küchler, Leonardo Santos Antunes, João Armando Brancher, Edgard Michel-Crosato, Marilisa Carneiro Leão Gabardo

“…Results: The study included 63 patients with PS and 54 without PS, with a mean age of 32.5 years. …”
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Elevated Circulating Adipocyte-Fatty Acid Binding Protein Levels Predict Incident Ischemic Cardiovascular Events in a Longitudinal and Prospective AMI Aging Study by Zhao X, Zhao H, Chen R, Zhou J, Li N, Li J, Yan S, Liu C, Zhou P, Chen Y, Song L, Yan H

“…Initially, participants were stratified into three groups according to the tertile levels of FABP4, followed by further categorization based on various lipid profiles and specific inflammatory markers.Results: On follow-up (median 751 days, maximum 1506 days), a total of 158 ischemic events were recorded. 1) In multivariable models meticulously adjusted for age, gender, traditional coronary heart disease factors, Killip classification, and discharge medications, the association of elevated levels of FABP4 (Tertile 3 HR 1.618 [1.061 to 2.468], p=0.026), augmented concentrations of PTX3 (Tertile 3 HR 1.811 [1.211 to 2.710], p=0.004), or LL-37 (Tertile 3 HR 0.651 [0.433 to 0.981], p=0.040) with ischemic risk was markedly intensified. 2) Multivariate HRs associated with 1 standard deviation (SD) (mg/dL) increase in the FABP4 parameters were as follows in different subgroups. 1-SD difference in FABP4 was associated with a 23%, 23%, 21 and 29% increase in ischemic events over after fully adjusted the confounding risk factors among male, patients with hyperlipidemia, hypertension and diabetes respectively. 3) The Kaplan-Meier curve demonstrated significant differences between the tertiles of FABP4 index levels among all enrolled participants (p=0.0180).Conclusion: This study reinforces the utility of FABP4 for enhancing risk stratification specifically among older patients diagnosed with ST-elevation myocardial infarction.Keywords: FABP4, lipid profile, PTX3, LL-37, ischemic vascular events…”
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