Clinical and genetic analysis of epilepsy with myoclonic-atonic seizures caused by SLC6A1 gene variant by Zhen Li, Zhen Li, Changming Han, Hongwei Zhao

“…Genetic analysis indicated a heterozygous missense variant of c.263T > C (p.L88P) in the SLC6A1 gene in the child, recognized as a spontaneous mutation that has not been previously documented in the literature.ConclusionThe variant in the SLC6A1 gene is implicated as one of the etiological factors contributing to EMAS coupled with neurodevelopmental abnormalities. …”
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Anaerobic Bacteremias in Left Ventricular Assist Devices and Advanced Heart Failure by David R. Murillo-Garcia, Julian Galindo, Natalia Pinto, Gabriel Motoa, Esther Benamu, Carlos Franco-Paredes, Daniel B. Chastain, Andrés F. Henao-Martínez

“…Fusobacterium species was the most frequent etiological agent. Most patients had a relatively favorable short-term outcome with survival rates of 100% at 30 days and of 50% at 90 days. …”
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A guide to selecting high-performing antibodies for Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform (PPP2R5D) for use in Western Blot, immunoprecipi... by Carl Laflamme, Kathleen Southern, Riham Ayoubi, Maryam Fotouhi, Charles Alende

“…Pathogenic mutations in the PPP2R5D gene are linked to clinical symptoms characterized by neurodevelopmental delay, intellectual disability, and autism spectrum disorders. The etiology of these genetic disorders remains unknown, which can partly be due to the lack of independently characterized antibodies. …”
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Joint Effect of CFH and ARMS2/HTRA1 Polymorphisms on Neovascular Age-Related Macular Degeneration in Chinese Population by Kai Fang, Pei Gao, Jun Tian, Xueying Qin, Wenzhen Yu, Juan Li, Qing Chen, Lvzhen Huang, Dafang Chen, Yonghua Hu, Xiaoxin Li

“…Purpose. The etiology of neovascular age-related macular degeneration (nAMD) cannot be completely explained by identified environmental risk factors or single-locus gene variants. …”
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Congenital Chylothorax: Case Report by Egemen Tolunay, Bulut Varlı, Fırat Tülek, Emre Pabuçcu, Şerife Esra Çetinkaya, Korhan Kahraman, Acar Koç

“…Genetic analysis and infection screening should be considered to reveal the etiology. Usually chylothorax has a good prognosis. …”
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Clinical Guidelines of the Russian Society of Surgeons, the Russian Gastroenterological Association, the Association of Surgeons-Hepatologists and the Endoscopic Society “REndO” o... by V. T. Ivashkin, A. G. Kriger, A. V. Okhlobystin, M. A. Anischenko, S. S. Kardasheva, S. A. Alekseenko, S. F. Bagnenko, M. I. Bykov, S. A. Budzinskiy, I.  M. Buriev, V. A. Vishnevskiy, E. I. Galperin, V. P. Glabay, V. R. Goltsov, T. G. Dyuzheva, G. G. Karmazanovskiy, M. P. Korolev, D. M. Krasilnikov, Yu. A. Kucheryavy, I. V. Maev, N. A. Maystrenko, M. F. Osipenko, M. I. Prudkov, V. I. Simanenkov, E. G. Solonitsin, A. V. Fedorov, E. D. Fedorov, I. B. Khlynov, M. V. Chikunova, A. V. Shabunin, S. G. Shapovalyants, A. A. Sheptulin, O. S. Shifrin

“…Current concept on the etiology of CP is reflected by the TIGAR-O classification. …”
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Dysregulation in the microbiota by HBV and HCV infection induces an altered cytokine profile in the pathobiome of infection by Marcos Daniel Mendes Padilha, Francisco Tiago de Vasconcelos Melo, Rogério Valois Laurentino, Andrea Nazaré Monteiro Rangel da Silva, Rosimar Neris Martins Feitosa

“…Viral hepatitis is a public health problem, about 1 million people die due to complications of this viral disease, the etiological agents responsible for inducing cirrhosis and cellular hepatocarcinoma are HBV and HCV, both hepatotropic viruses that cause asymptomatic infection in most cases. …”
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Impact of Cardiac Computed Tomographic Angiography Findings on Planning of Cancer Therapy in Patients with Concomitant Structural Heart Disease by Iyad N. Daher, Jose Banchs, Syed Wamique Yusuf, Elie Mouhayar, Jean-Bernard Durand, Gregory Gladish

“…A total of 80 patients underwent CCTA during the study period for the following indications (not mutually exclusive): cardiomyopathy of unknown etiology in 33 pts (41.3%), chest pain in 32 (40.0%), abnormal stress test in 16 (20.0%), abnormal cardiac markers in 8 (10.0%), suspected cardiac mass or thrombus in 7 (8.8%). …”
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Diagnosis and Treatment of Peptic Ulcer in Adults (Clinical Guidelines of the Russian Gastroenterological Association, Russian Society of Colorectal Surgeons and the Russian Endosc... by V. T. Ivashkin, I. V. Maev, P. V. Tsar’kov, M. P. Korolev, D. N. Andreev, E. K. Baranskaya, S. G. Burkov, A. A. Derinov, S. K. Efetov, T. L. Lapina, P. V. Pavlov, S. S. Pirogov, A. V. Tkachev, A. S. Trukhmanov, E. D. Fedorov, A. A. Sheptulin

“…These clinical recommendations present modern ideas about the etiology and pathogenesis of peptic ulcer disease, its clinical manifestations, methods of laboratory and instrumental diagnostics and basic approaches to conservative and surgical treatment.…”
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Data Mining for Identifying Novel Associations and Temporal Relationships with Charcot Foot by Michael E. Munson, James S. Wrobel, Crystal M. Holmes, David A. Hanauer

“…While some risk factors are known, debate continues regarding etiology. Elucidating other associated disorders and their temporal occurrence could lead to a better understanding of its pathogenesis. …”
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Advancing Alzheimer's Therapy: Computational strategies and treatment innovations by Jibon Kumar Paul, Abbeha Malik, Mahir Azmal, Tooba Gulzar, Muhammad Talal Rahim Afghan, Omar Faruk Talukder, Samar Shahzadi, Ajit Ghosh

“…A comprehensive analysis of recent literature was conducted to elucidate the broad scope of Alzheimer's etiology and the limitations of conventional drug discovery approaches. …”
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Bronchotracheal Stenting Management by Rigid Bronchoscopy under Extracorporeal Membrane Oxygenation (ECMO) Support: 10 Years of Experience in a Tertiary Center by Sabrina Meyer, Anne-Sophie Dincq, Lionel Pirard, Sebahat Ocak, Jean-Paul D’Odémont, Philippe Eucher, Benoît Rondelet, André Gruslin, Laurie Putz

“…There were 11 benign and 3 malignant etiologies for the central airway obstruction/stenosis. …”
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Complex and severe infection in a 67-year-old liver transplant recipient due to Cunninghamella elegans, Bordetella bronchiseptica, and Pneumocystis jirovecii by Muyun Wei, Kangyi Gu, Juanxiu Qin, Xinhua Lu, Junqi Feng, Shaowei Mao, Min Li, Zhilan Li, Changsheng Wang

“…Also, the case indicates that traditional methods are insufficient for the etiological diagnosis needs of critical and severe patient populations, and timely use of mNGS should be recommended.…”
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The Molecular Diagnosis Protocols of New Coronavirus (COVID-19); Specificity and Sensitivity an Overview by Abdullah Ahmed Hama, Othman Abdulrahman Mohammed, Fatima Mahmud Ali, Osama Hamid Shareef, Sardar Muhammad Wli, Sabiha Sharif, Syamand Ahmed Qadir

“…Early diagnosis of the etiological agents is critical for appropriate management, controlling plan, protection, and treatment. …”
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Achalasia—An Autoimmune Inflammatory Disease: A Cross-Sectional Study by J. Furuzawa-Carballeda, D. Aguilar-León, A. Gamboa-Domínguez, M. A. Valdovinos, C. Nuñez-Álvarez, L. A. Martín-del-Campo, A. B. Enríquez, E. Coss-Adame, A. E. Svarch, A. Flores-Nájera, A. Villa-Baños, J. C. Ceballos, G. Torres-Villalobos

“…Idiopathic achalasia is a disease of unknown etiology. The loss of myenteric plexus associated with inflammatory infiltrates and autoantibodies support the hypothesis of an autoimmune mechanism. …”
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Elevated Concentration of Defensins in Hepatitis C Virus-Infected Patients by Ehab H. Mattar, Hussein A. Almehdar, Abdullah A. AlJaddawi, Isam ElDin M. Abu Zeid, Elrashdy M. Redwan

“…Hepatitis C virus (HCV) is the major etiological agent of human non-A and non-B hepatitis, affecting around 180 million people worldwide. …”
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Diagnosis and Treatment of Low Anterior Resection Syndrome by Masaaki Miyo, Emi Akizuki, Koichi Okuya, Ai Noda, Masayuki Ishii, Ryo Miura, Momoko Ichihara, Maho Toyota, Kohei Okamoto, Tatsuya Ito, Yuji Akiyama, Ichiro Takemasa

“…Recent findings have indicated that multiple pathophysiological changes, including reservoir function and evacuation of the neorectum, anal sphincter function, negative impact of a diverting stoma, autonomic denervation, and radiotherapy, are involved in the etiology of LARS. Due to the lack of established treatments and prevention of LARS, a suggested treatment chart for patients with LARS was presented in the Management Guidelines for Low Anterior Resection Syndrome (MANUEL) project. …”
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Robot-Assisted Partial Splenectomy for Splenic Epidermoid Cyst by Mubarak Ali kirih, Xiao Liang, Yangyan Xie, Jingwei Cai, Junhao Zheng, Feng Xu, Shilin He, Liye Tao, Faisa Ali Abdi

“…The splenic cyst is a rare disease with unknown etiology. The inner wall of the cyst has lining epithelium. …”
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Diagnostics and treatment of peptic ulcer: clinical guidelines of the Russian gastroenterological Association by V. T. Ivashkin, A. A. Sheptulin, I. V. Mayev, Ye. K. Baranskaya, A. S. Trukhmanov, T. L. Lapina, S. G. Burkov, A. V. Kalinin, A. V. Tkachev

“…To present modern concept on etiology and pathogenesis of the peptic ulcer (PUD) to general practitioners, to acquaint them with modern diagnostic methods and main treatment approaches of this disease. …”
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Perioperative Management of a Patient with Hereditary Angioedema and Intestinal Obstruction Secondary to an Ileal Tumor: A Case Report by Antony Peter Gatheru, Anne Kasyoka Barasa, Isaac Karogo Mwangi, Stanley Ngare, Dan Kiptoon, Edwin Oloo Walong

“…Persistence of abdominal symptoms warrants further evaluation for other etiologies of acute abdomen. Surgical procedures with tracheal intubation can induce life-threatening upper airway edema in HAE patients. …”
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