Clinical Evaluation of Patients with Spinal Cord Infarction in Mashhad, Iran by Kavian Ghandehari, Mohammad Reza Gerami Sarabi, Parham Maarufi

“…Conclusion. SCI is a rare disease with poor recovery. Distribution of etiologies of SCI patients is quite different than of BI patients.…”
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Low Urbanization but Not Illiteracy was Associated with Poor Medication Adherence among Elderly People in Rural Taiwan by Pei-Jhih Li, Ling-Chiao Liao, Chin-Ju Chuang, Cheng-Ying Hsieh, Yung-Cheng Huang, Li-Yu Chen, Yi-Hsuan Yang, Feng-Jung Yang, Kai-Chieh Chang, Li-Jiuan Shen, Fei-Yuan Hsiao, Yen-Ming Huang, Chih-Cheng Hsu, Shau-Huai Fu, Chin-Kai Chang, Chen-Yu Wang

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Familial Pulmonary Capillary Hemangiomatosis Early in Life by Johannes Wirbelauer, Helge Hebestreit, Alexander Marx, Eugene J. Mark, Christian P. Speer

“…Pulmonary capillary hemangiomatosis (PCH) is a rare disease, especially in infancy. Four infants have been reported up to the age of 12 months. …”
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Lemierre Syndrome with Extensive Thrombosis: A Unique Case Report and Literature Review by Stergos Koukias, Asimenia Athousaki, Dionisios Klonaris, Melina Kavousanaki, Georgios Papazoglou, Nikolaos Papanikolaou

“…Conclusion. LS is a rare disease and may have an insidious course. Timely diagnosis and appropriate treatment strategies, mainly broad-spectrum antibiotics, offer favorable outcomes in otherwise healthy individuals. …”
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Esophageal submucosal gland duct adenoma: a case report and literature review by Bing Zhou, Jian Zheng, Ling Huang, Hua Hao

“…Taking into account its characteristic microscopic morphology and immunohistochemical markers, the possibility of this rare disease should be considered to avoid misdiagnosis or missed diagnosis. …”
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Piloting an automated query and scoring system to facilitate APDS patient identification from health systems by Amy M. FitzPatrick, Aaron T. Chin, Sharon Nirenberg, Charlotte Cunningham-Rundles, Keith Sacco, Jesse Perlmutter, Joseph F. Dasso, Athanasios Tsalatsanis, Jay Maru, Jessica Creech, Jolan E. Walter, Nicholas Hartog, Neema Izadi, Mandy Palmucci, Manish J. Butte, Klaus Loewy, Anurag Relan, Nicholas L. Rider

“…Sensitivity analysis suggested an optimal cutoff score of 7 (sensitivity = 0.70).ConclusionDisease-specific queries are a relatively simple method to foster patient identification across the rare-disease spectrum. Such methods are even more important for disorders such as APDS where an approved, pathway-specific treatment is available in the US.…”
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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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Caroli Disease (Clinical Observation) by I. G. Nikitin, A. A. Karabinenko, A. E. Nikitin, E. I. Dedov, D. G. Zhukova, E. D. Presnova, S. A. Korvyakov, R. H. Azimov, E. V. Reznik

“…An early diagnosis of Caroli disease is important for preventing complications, improving the quality of life and increasing the life expectancy of patients suffering from this rare disease.…”
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Pericardial Involvement in Hereditary Hemorrhagic Telangiectasia by Abir Derbel, Mouna Snoussi, Raida Ben Salah, Faten Frikha, Leila Abid, Imed Frikha, Sameh Marzouk, Zouhir Bahloul

“… Hereditary haemorrhagic telangiectasia is a rare disease characterized by cutaneo-mucous and visceral arteriovenous malformations. …”
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The Association of Neutrophil/Lymphocyte and Platelet/Lymphocyte Ratios and Hematological Parameters with Diagnosis, Stages, Extrapulmonary Involvement, Pulmonary Hypertension, Res... by Celalettin Korkmaz, Sinan Demircioglu

“…Sarcoidosis is a rare disease characterized by granulomatous inflammation in affected organs, primarily in lungs. …”
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“…They were just treating her Symptom by Symptom”: maternal experiences of having a child with spinal muscular atrophy in Ghana by Esther Doe-Yo Tawiah, Jacob Owusu Sarfo

“…Methods We conducted an interpretative phenomenological study with a purposive sample of seven mothers whose children, aged between 8 and 24 months, were diagnosed with Spinal Muscular Atrophy (SMA) and registered with the Rare Disease Ghana Initiative (RDGI). Individual interviews were conducted between August and September 2023 using semi-structured interview guides. …”
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A Systematic Literature Review and Indirect Treatment Comparison of Efficacy of Repository Corticotropin Injection versus Synthetic Adrenocorticotropic Hormone for Infantile Spasms by Michael S. Duchowny, Ishveen Chopra, John Niewoehner, George J. Wan, Beth Devine

“…**Background:** Infantile spasms is a rare disease characterized by distinct seizures and hypsarrhythmia. …”
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Chlormethine Gel for Treatment of Patients with Mycosis Fungoides: Best Practices and Guidance to Clinicians by Larisa Geskin, Christiane Querfeld, Emmilia Hodak, Neda Nikbakht, Evangelia Papadavid, Marco Ardigò, Ulrike Wehkamp, Martine Bagot

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Spinal arachnoid diverticula in cats: Clinical presentation, diagnostic imaging findings, treatment, and outcome by João Miguel De Frias, Sofie F. M. Bhatti, George Nye, Rita Gonçalves, Tom Harcourt‐Brown, Angela Fadda, Katia Marioni‐Henry, Hannah Padley, Steven De Decker

“…Abstract Background Spinal arachnoid diverticulum (SAD) is considered a rare disease in cats. Previous reports mainly classified SAD in cats as acquired. …”
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Endoscopic sinus surgery outcomes in patients with chronic rhinosinusitis and immunoglobulin deficiencies by Shireen Samargandy, Elysia Grose, Jonathan Yip, John M. Lee

“…Conclusion Our data suggests that patients with ID have clinically meaningful improvement in SNOT-22 scores after ESS but may have higher revision rates than immunocompetent patients with CRS. ID are rare disease entities, thus most attempts at studying this cohort would be limited by sample size. …”
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Development of the Dutch translational knowledge agenda for inherited metabolic diseases by I. J. Hieltjes, J. H. van derLee, M. C. Groenendijk, G. vanHaaften, P. M. vanHasselt, R. J. Lunsing, G. J. J. vanProoijen, E. M. deRuiter, F. J. vanSpronsen, N. M. Verhoeven‐Duif, A. deVreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. vanKarnebeek, R. J. A. Wanders, R. A. Wevers

“…Discussion This collective endeavor reflects the collaborative spirit needed for rare disease research. This knowledge agenda will guide funding directions and applications but will also boost interdisciplinary collaboration to push the field of IMDs research forward in a renewed UMD consortium. …”
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Immunoglobulin G4-related disease with pleural involvement in an 80-year-old female patient: A case report and literature review by Liying Zhang, Li Mo

“…This study aimed to expand the existing case database of pleural IgG4-RD and enhance the understanding and management of this rare disease. Methods: We report a case of IgG4-RD involving the pleura in an 80-year-old woman with a weight of 62 kg and a body mass index (BMI) of 23.2 kg/m2. …”
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Light-chain proximal tubulopathy: a retrospective study from a single Chinese nephrology referral center by Xin Wang, Xiao-juan Yu, Su-xia Wang, Fu-de Zhou, Ming-hui Zhao

“…Background Light-chain proximal tubulopathy (LCPT) is a rare disease characterized by the accumulation of monoclonal light chains within proximal tubular cells. …”
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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

“…Paraneoplastic limbic encephalitis (PLE) is a rare disease that presents as rapid onset dementia characterized by short-term memory loss (STM), anxiety, and behavioral changes. …”
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Prognosis conferred by molecular features of appendix-derived Pseudomyxoma Peritonei by Ruiqing Ma, Guojun Li, Yingjiang Ye, Lei Liang, Chong Wang, Haipeng Zhou, Pu Zhang, Lubiao An, Guanjun Shi, Qian Chen, Hongbin Xu, Zhidong Gao

“…Introduction: Pseudomyxoma Peritonei (PMP) is an extremely rare disease characterized by progressive accumulation of mucinous ascites and implants in the peritoneum. …”
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