Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…However, many other conditions can present dual sensory impairment. Accurate diagnosis is essential for providing patients with genetic counseling, prognostic information, and appropriate resources. …”
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Protocol for a systematic review and individual participant data meta-analysis for risk factors for lung cancer in individuals with lung nodules identified by low-dose CT screening by Matthew Callister, Harry J de Koning, Robert C Rintoul, Carolyn Horst, Arjun Nair, John K Field, Christine D Berg, Samantha Quaife, Rhian Gabe, Stephen Duffy, Sam Janes, Philip AJ Crosbie, Mark M Hammer, Panos Alexandris, Michael PA Davies

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Hospital in-reach family-centred social prescribing pilot for children with neurodisability: mixed methods evaluation with social return on investment analysis by Laura Gordon, Megan Hastry, Angela Bate, Katie Gordon, Emily Greaves, Simoni Dimitriadou, Tim Rapley, Anna Purna Basu

“…Families reported having felt overwhelmed when trying to adjust to new ways of life post diagnosis/discharge before link worker intervention, with little support to navigate non-medical needs. …”
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The potential utility of synovial C-reactive protein, interleukin-6, and presepsin in diagnostics of periprosthetic joint infection by Lyudmila V. Lyubimova, Svetlana I. Pavlova, Nikolay S. Nikolaev, Evgeniy A. Lyubimov, Nadezhda N. Pchelova, Vladimir Y. Emelianov

“…Sensitivity, specificity, and accuracy for PJI diagnosis were determined for CRP at 62.5%, 85.7%, and 80.0%; for IL-6 at 87.5%, 63.0%, and 69.4%; and for presepsin at 43.8%, 79.6%, and 70.8%, respectively. …”
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Anti-NMDAR-Positive Small-Cell Lung Cancer Paraneoplastic Limbic Encephalitis: A Case Report and Literature Review by Raman Sohal, Steven H. Adams, Vishal Phogat, Abha Harish, Carlos Ynigo D. Lopez, Michael P. A. Williams, Kamal K. Khurana, Basel Abuzuaiter, Nia Jagroop, Bhavya Narapureddy

“…Given that PLE can precede the diagnosis of cancer, it is very important that once infectious, metabolic, nutritional, or structural disorders associated with short-term memory loss are ruled out that vigorous effort must be made to rule out underlying malignancy. …”
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Sciatic Nerve Palsy following Curved Periacetabular Osteotomy by Masahiro Fujita, Shinya Hayashi, Kenichi Kikuchi, Yoshinori Takashima, Tomoyuki Kamenaga, Masanori Tsubosaka, Koji Fukuda, Koji Takayama, Shingo Hashimoto, Takahiro Niikura, Ryosuke Kuroda, Tomoyuki Matsumoto

“…Direct injury of the sciatic nerve should not be caused by CPO; however, there is a possibility of postoperative sciatic nerve palsy due to the scarring soft tissue. Early diagnosis and appropriate treatment are important for optimal postoperative clinical outcomes.…”
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A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs by Xiaohao Mao, Yu Huang, Ye Jin, Lun Wang, Xuanzhong Chen, Honghong Liu, Xinglin Yang, Haopeng Xu, Xiaodong Luan, Ying Xiao, Siqin Feng, Jiahao Zhu, Xuegong Zhang, Rui Jiang, Shuyang Zhang, Ting Chen

“…Abstract Rare diseases, affecting ~350 million people worldwide, pose significant challenges in clinical diagnosis due to the lack of experienced physicians and the complexity of differentiating between numerous rare diseases. …”
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Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant by Antheia Kissopoulou, Eva Fernlund, Christina Holmgren, Eira Isaksson, Jan‐Erik Karlsson, Henrik Green, Jon Jonasson, Rada Ellegård, Hanna Klang Årstrand, Anneli Svensson, Cecilia Gunnarsson

“…In the literature, we found several cases that presented with episodes of myocarditis and ended up with a diagnosis of arrhythmogenic cardiomyopathy, mostly of the left predominant type. …”
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The impact of war on ACS admissions and triage – a single center experience by Sharon Bruoha, Tatiana Stolichny, Vladimir Chitoroga, Michael Shilo, Michael Friger, Jamal Jafari, Evgeny Chernogoz, Maggie Cohen Grisaru, Amos Katz, Chaim Yosefy, Gili Givaty

“…Results: A total of 449 individuals (102 females [22.7 %]) with a diagnosis of ACS were recruited, 358 patients (144 STEMI and 214 NSTEMI) were admitted during the 9 months before October 7th and 91 patients (42 STEMI and 49 NSTEMI) in the 3 months after October 7th. …”
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Vision Improvement after Osimertinib Treatment in Paraneoplastic Optic Neuropathy Associated with Lung Adenocarcinoma by Masaomi Kubota, Nobumasa Tamura, Takaaki Hayashi, Euido Nishijima, Haruhiko Yanagisawa, Akira Kojima, Tadashi Nakano

“…Pattern-reversal visual evoked potentials showed decreased P100 amplitudes in both eyes (BE). Based on a diagnosis of PON from clinical findings, methylprednisolone pulse treatment was administered. …”
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Determinants of Anemia among HIV-Positive Children on Highly Active Antiretroviral Therapy Attending Hospitals of North Wollo Zone, Amhara Region, Ethiopia, 2019: A Case-Control St... by Biruk Beletew, Ayelign Mengesha, Mohammed Ahmed, Awet Fitwi, Mesfin Wudu

“…Therefore, intervention aimed at prevention, early diagnosis, and treatment of anemia is essential in these patients.…”
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Racial/ethnic differences in post-acute sequelae of SARS-CoV-2 in children and adolescents in the United States by Dazheng Zhang, Bingyu Zhang, Qiong Wu, Ting Zhou, Jiayi Tong, Yiwen Lu, Jiajie Chen, Huiyuan Wang, Deena J. Chisolm, Ravi Jhaveri, Rachel C. Kenney, Russell L. Rothman, Suchitra Rao, David A. Williams, Mady Hornig, Linbo Wang, Jeffrey S. Morris, Christopher B. Forrest, Yong Chen

“…The cohort included 225,723 patients with SARS-CoV-2 infection or COVID-19 diagnosis between March 2020 and October 2022. The study compared minority racial/ethnic groups to Non-Hispanic White (NHW) individuals, stratified by severity during the acute phase of COVID-19. …”
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Apallic syndrome of toxic origin: the diagnostic criteria by N.V. Kurdil, A.O. Volosovets, O.V. Ivashchenko, V.S. Lisovska, H.M. Balan, O.M. Rozhkova, V.V. Andriushchenko

“…Among the patients of the toxicology department of the Kyiv City Clinical Emergency Hospital in 2008–2020, an increase in the number of cases of apallic syndrome was noted from 0.025 to 0.14 ‰, which correlates with mass poisonings with illegal methadone. A key role in the diagnosis of apallic syndrome of toxic origin belongs to the neurological and behavioural examination of the patient, which should be carried out by experienced neurologists specialising in counselling people with poisoning. …”
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The Association between ER, PR, HER2, and ER−/PR+ Expression and Lung Cancer Subsequent in Breast Cancer Patients: A Retrospective Cohort Study Based on SEER Database by Hong Yu Shao, Bao Tan Hao, Feng Xiao Gao

“…Various covariates were assessed at baseline, including age, sex, race, marital status, CS tumor size, laterality, radiation, chemotherapy, months from diagnosis to treatment, breast subtype, AJCC 7th edition (2010–2015), and combined summary stage (2004+). …”
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Epidemiology and determinants of non-diabetic hyperglycaemia and its conversion to type 2 diabetes mellitus, 2000–2015: cohort population study using UK electronic health records by Peter Bower, Rachel Meacock, Evangelos Kontopantelis, David Reeves, Matt Sutton, Simon Heller, William Whittaker, Sarah Cotterill, Elizabeth Howarth, Claudia Soiland-Reyes, Rathi Ravindrarajah

“…Cox proportional hazards models evaluated predictors of conversion.Results Crude conversion was 4% within 6 months of NDH diagnosis, 7% annually, 13% within 2 years, 17% within 3 years and 23% within 5 years. …”
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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

“…Thus, whole-exome sequencing may be recommended for precise diagnosis of neurogenetic diseases in such cases.…”
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Who Are Suitable Patients for Omitting Breast Surgery as an Exceptional Responder in Selected Molecular Subtypes of Breast Cancer After Neoadjuvant Systemic Treatment? by Ebru Sen, Mehmet Ali Nazlı, Göktürk Maralcan, Bekir Sıtkı Said Ulusoy, Mahmut Kaan Demircioğlu, Tuce Söylemez Akkurt, Mehmet Sökücü, Gökmen Umut Erdem, Mustafa Yıldırım

“…The median tumour size at diagnosis was 23.1 mm. All biopsy results were concordant with the findings of surgical specimen. …”
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Insights from serial cardiovascular magnetic resonance imaging show early progress in diastolic dysfunction relates to impaired right ventricular deformation by Sören J. Backhaus, Alexander Schulz, Torben Lange, Simon F. Rösel, Lennart S. Schmidt-Schweda, Shelby Kutty, Johannes T. Kowallick, Julia Treiber, Andreas Rolf, Samuel Sossalla, Gerd Hasenuß, Andreas Schuster

“…Cardiovascular events were assessed after 4 years.Serial CMR scans were available for NCD n = 10, HFpEF n = 10 and HFpEF with IASD implantation following baseline diagnosis n = 6. RV long axis strain at rest and during exercise-stress decreased in HFpEF (p = 0.007 for both) but neither in NCD nor HFpEF with IASD. …”
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Electrophysiological and Structural Changes in Chinese Patients with LHON by Min Wang, Hong Guo, Shiying Li, Gang Wang, Yanling Long, Xiaohong Meng, Bo Liu, Yong Liu, Anthony G. Robson, Zheng Qin Yin

“…Methods. 26 eyes of 13 patients with a genetically confirmed diagnosis of LHON were categorized into two groups according to the duration of the disease: group 1 (duration less than 3 months) and group 2 (duration between 3 months and 18 years). …”
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A Comparison of hs-CRP Levels in New Diabetes Groups Diagnosed Based on FPG, 2-hPG, or HbA1c Criteria by Yildiz Tutuncu, Ilhan Satman, Selda Celik, Nevin Dinccag, Kubilay Karsidag, Aysegul Telci, Sema Genc, Halim Issever, Jaakko Tuomilehto, Beyhan Omer

“…Our results revealed that hs-CRP may not further strengthen the diagnosis of new-onset DM. Nevertheless, the highest hs-CRP level observed in new-onset DM people diagnosed with HbA1c criterion supports the general assumption that this method might recognize people in more advanced diabetic stage compared with other diagnostic methods.…”
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