Search Results - "rare diseases"

Mola Completa em Gravidez Gemelar: relato de Caso Complete Mole in Twin Pregnancy: a Case Report by Izildinha Maestá, Iracema M.P. Calderon, Marilza V.C. Rudge, Magaly M. Sales, Fabiano P. Saggioro, José Carlos Peraçoli

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Spontaneous biliary peritonitis: Is bed side diagnosis possible? by Vijai Datta Upadhyaya, Basant Kumar, Mangal Singh, Rudramani, Sushila Jaiswal, Richa Lal, Sanjay Gambhir, M Rohan

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Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study by Eunice Jeffs, Elizabeth Pillay, Lesedi Ledwaba‐Chapman, Alessandra Bisquera, Susan Robertson, John McGrath, Yanzhong Wang, Anna Martinez, Anita Patel, Jemima Mellerio

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High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva by Serena Cappato, Laura Tonachini, Francesca Giacopelli, Mario Tirone, Luis J. V. Galietta, Martina Sormani, Anna Giovenzana, Antonello E. Spinelli, Barbara Canciani, Silvia Brunelli, Roberto Ravazzolo, Renata Bocciardi

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Cuidados enfermeros en paciente geriátrico con síndrome de Stevens-Johnson relacionado con levofloxacino: a propósito de un caso Nursing care in elderly with Stevens-Johnson Syn... by Manuel Burgos Arguijo, Guadalupe Blázquez Díaz, Ruth Burguillo Gallego, Elena Cabezas Francés, Vanesa Cadavid García, Lucía De Toro Torrijos, Irene Frías García, Aránzazu Melero Colmenarejo, Mª. Luisa Rivas Díaz, Mercedes Salinero Hernando

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Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management by Jiwon Jung, Joo Hoon Lee, Young Seo Park, Go Hun Seo, Changwon Keum, Hee Gyung Kang, Hajeong Lee, Sang Koo Lee, Sang Taek Lee, Heeyeon Cho, Beom Hee Lee

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Lung abscess as a complication of Lemierre Syndrome in adolescents: a single center case reports and review of the literature by Laura Venditto, Giuliana Ferrante, Anna Caccin, Giulia Franchini, Marco Zaffanello, Laura Tenero, Michele Piazza, Stefano Di Gioia, Giorgio Piacentini, Angelo Pietrobelli

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Small cell neuroendocrine carcinoma of the endometrium: A clinicopathologic study of six cases by Yu-Jin Koo, Dae-Yeon Kim, Kyu-Rae Kim, Jong-Hyeok Kim, Yong-Man Kim, Young-Tak Kim, Joo-Hyun Nam

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Evolution of Clinical Manifestations of Neck and Face due to Cutaneous Leishmaniasis Resulting In Diagnostic Errors. by Vera Zatonskikh, Anatoliy Venglovskiy, Saule Zhumambaeva, Bulat Zhussupov, Baurzhan Dakenov, Rais Toulebaev, Mazhit Shaidarov

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Chronic pulmonary histoplasmosis in Portugal: a case report by João Parreira, Madalena Reis, José Silva, Luís Ferreira

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Clinical Analysis of Hypertension in Children Admitted to the Emergency Department by Wen-Chieh Yang, Han-Ping Wu

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New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene by Imen Rejeb, Mouna Jerbi, Houweyda Jilani, Hanène Gaied, Yasmina Elaribi, Syrine Hizem, Raja Aoudia, Hafedh Hedri, Chiraz Zaied, Salwa Abid, Hassen Bacha, Taieb BenAbdallah, Lamia BenJemaa, Rim Goucha

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Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting by Lauren Thompson, Austin Larson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Anuj Jayakar, Rachel Chapman, Rachel Chapman, Apeksha Gupta, Stephen F. Kingsmore, David Dimmock, Alan Bedrick, Alan Bedrick, Maureen Kelly Galindo, Kari Casas, Mohamed Mohamed, Lisa Straight, M. Akram Khan, Daria Salyakina

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So, and if it is not congenital adrenal hyperplasia? Addressing an undiagnosed case of genital ambiguity by Reinaldo Luna de Omena Filho, Reginaldo José Petroli, Fernanda Caroline Soardi, Débora de Paula Michelatto, Taís Nitsch Mazzola, Helena Fabbri-Scallet, Maricilda Palandi de Mello, Susane Vasconcelos Zanotti, Ida Cristina Gubert, Isabella Monlleo

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Percutaneous balloon dilatation for congenital aortic stenosis during infancy: A 15-year single-center experience by Abdulraouf M Z Jijeh, Muna Ismail, Aisha Al-Bahanta, Ahmed Alomrani, Omar Tamimi

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Medicines pricing and reimbursement in Canada by Chris BONNETT, Tania STAFINSKI, Evelinda TRINDADE

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Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease by Marcos Yébenes Mayordomo, Sofian Al Shboul, Maria Gómez-Herranz, Asim Azfer, Alison Meynert, Donald Salter, Larry Hayward, Anca Oniscu, James T. Patton, Ted Hupp, Mark J. Arends, Javier Antonio Alfaro

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Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire by Magdalena Harrington, Asha Hareendran, Anne Skalicky, Hilary Wilson, Marci Clark, Jaromir Mikl

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Juvenile eosinophilic fasciitis: a single center case series by Leigh A. Stubbs, Oluwaseun Ogunbona, Emily Beil, Vibha Szafron, Adekunle Adesina, Sara Anvari, Jamie Lai, Andrea Ramirez, Matthew G. Ditzler, Marietta DeGuzman

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A Blended Physiotherapy Intervention for Persons With Hemophilic Arthropathy: Development Study by Timmer, Merel A, Kloek, Corelien J J, de Kleijn, Piet, Kuijlaars, Isolde A R, Schutgens, Roger E G, Veenhof, Cindy, Pisters, Martijn F

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