Works matching DE "RARE diseases"

Results: 5000

Two Extremely Rare Case of Carcinosarcoma Ex Pleomorphic Adenoma.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 7, p. NP465, doi. 10.1177/01455613221130888

By:

Gozgec, Elif;
Ogul, Hayri;
Ceylan, Onur

Publication type:

Article

Primary Cutaneous Cryptococcosis of Nose With Extensive Tissue Destruction: A Rare Case Report.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 7, p. NP460, doi. 10.1177/01455613221126324

By:

Nishiyama-Fujita, Yuriko;
Kondapi, Divya S.;
Parkerson III, G. Robert;
Xu, Ya

Publication type:

Article

Oncocytic Papillary Cystadenoma of the Larynx: A Rare and Masquerading Entity.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 7, p. 402, doi. 10.1177/01455613221124731

By:

Bosco, Samuel;
Ding, James;
Fundakowski, Christopher

Publication type:

Article

Comprehensive Clinical Analysis of Rilonacept in the Treatment of Cryopyrin-Associated Periodic Syndromes: A Systematic Review.

Published in:

Journal of Multidisciplinary Healthcare, 2025, v. 18, p. 2591, doi. 10.2147/JMDH.S500838

By:

Zhang, Tian;
Yu, Yue;
Chen, Jiajing;
Zhao, Zhao;
Qian, Moting;
Zhang, Yufei;
Ma, Chunlai;
Chang, Feng

Publication type:

Article

Impact of immunostimulation on autoinflammatory disease. CRMO case presentation and literature review: A case report.

Published in:

2025

By:

Munteanu, Andrei-Ioan;
Nicoară, Delia-Maria;
Jugănaru, Iulius;
Bugi, Meda-Ada;
Mărginean, Otilia

Publication type:

Case Study

Health-related quality of life and productivity burden for non-professional caregivers of adults with rare diseases: a real-world study.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03796-z

By:

Johnson, Ben;
Gibson, Gregor;
Baskerville, Daniel;
Castellano, Giorgio;
de Courcy, Jonathan;
Iqbal, Halima;
Piercy, James;
Williams, Angela;
Pinedo-Villanueva, Rafael;
Rylands, Angela

Publication type:

Article

Understanding the clinical morbidity and mortality of fibrodysplasia ossificans progressiva: a systematic literature review.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03763-8

By:

Harrak, Hind;
Rhee, Susan;
Souttou, Amal;
O'Meara, Sarah J.;
Knox, Caitlin

Publication type:

Article

Ovarian carcinoma and peritoneal tuberculosis: A rare coexistence with challenging diagnosis, a case report and literature review.

Published in:

Women's Health (17455057), 2025, p. 1, doi. 10.1177/17455057251342358

By:

Boukhris, Sabrine;
Rahmouni, Eya;
Romdhane, Racha Ben;
Mansouri, Houyem;
Hssine, Samia Ben;
Mahjoub, Najet;
Zemni, Ines;
Achouri, Leila

Publication type:

Article

An emergency surgical airway establishment following rapid sequence induction: a rare case of laryngeal stenosis associated with tuberculosis.

Published in:

BMC Anesthesiology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12871-025-03163-2

By:

Wang, Ruofan;
He, Yi;
Li, Xiaoqiang;
Zuo, Yunxia

Publication type:

Article

Fournier's Gangrene and Sodium-Glucose Cotransporter 2 Inhibitor Use: A Report of Two Cases.

Published in:

Journal of Pharmacy Practice, 2025, v. 38, n. 4, p. 410, doi. 10.1177/08971900241302881

By:

Elfessi, Zane;
Portnoy, Elizabeth;
Karydes, Harry;
Zavala, Sarah

Publication type:

Article

D-Penicillamine Induced Myelotoxicity: A Unique Case.

Published in:

Journal of Pharmacy Practice, 2025, v. 38, n. 4, p. 414, doi. 10.1177/08971900241308626

By:

Abdulla, Aliya;
Rezvani, Aryan;
Nelsen, Christopher;
Sigala, Mariah I.

Publication type:

Article

Dengue-Associated Hemophagocytic Lymphohistiocytosis: The Many Faces of Expanded Dengue Syndrome.

Published in:

Clinical Pediatrics, 2025, v. 64, n. 7, p. 905, doi. 10.1177/00099228241309192

By:

Sharma, Ritu;
Ray, Sanghamitra;
Chattopadhyay, Arpita;
Khatri, Arti

Publication type:

Article

ST-elevation Myocardial Infarction and Focal Myopericarditis Due to Cardiac Mucormycosis in an Immunosuppressed Patient.

Published in:

Indian Journal of Clinical Cardiology, 2025, v. 6, n. 2, p. 165, doi. 10.1177/26324636251314236

By:

Chhabria, Rahul;
Pawar, Niraj;
Gavali, Vishal;
Bahadur, M.M.

Publication type:

Article

Optical Coherence Tomography (OCT) Imaging of Coronary Plaque Rupture Resulting in Acute Coronary Syndrome in a Patient with Addisons' Crisis.

Published in:

Indian Journal of Clinical Cardiology, 2025, v. 6, n. 2, p. 169, doi. 10.1177/26324636251314936

By:

Mustepally, Pradeep Kumar;
Kiron, Varsha;
Paul, Rajib;
Rath, P. C.

Publication type:

Article

Complicated Infantile Hemangiomas in the palate: case report of a newborn patient and review of the literature.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02030-7

By:

Pensabene, Marco;
Cambiaso, Chiara;
Patti, Maria;
Sergio, Maria;
Serra, Gregorio;
Grasso, Francesco;
Baldanza, Fabio;
Giuffre', Mario;
Corsello, Giovanni;
Di Pace, Maria Rita

Publication type:

Article

Oral health and oral health-related quality of life in people with Marfan syndrome: a cross-sectional study.

Published in:

BMC Oral Health, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12903-025-06318-2

By:

Tetsch, Nick Jan;
Köppe, Jeanette;
Daume, Linda;
Kleinheinz, Johannes;
Hanisch, Marcel;
Oelerich, Ole

Publication type:

Article

Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03828-8

By:

Grošelj, Urh;
Kavčič, Marko;
Drole Torkar, Ana;
Kafol, Jan;
Lainšček, Duško;
Jerala, Roman;
Sever, Matjaž;
Zver, Samo;
Serša, Gregor;
Čemažar, Maja;
Strojan, Primož;
Grošelj, Aleš;
Žerjav Tanšek, Mojca;
Miroševič, Špela;
Ivančan, Simona;
Prelog, Tomaž;
Gosar, David;
Oražem Mrak, Jasna;
Mlinarič, Matej;
Bertok, Sara

Publication type:

Article

Reflection on clinical and methodological issues in rare disease clinical trials.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03805-1

By:

Verbeeck, Johan;
Geroldinger, Martin;
Nyberg, Joakim;
Thiel, Konstantin E.;
Hooker, Andrew C.;
Bathke, Arne C.;
Bauer, Johann W.;
Molenberghs, Geert;
Laimer, Martin;
Zimmermann, Georg

Publication type:

Article

A challenging case of limb autoamputation.

Published in:

2025

By:

Aliyev, Emil;
Celep, Ismahan;
Cam, Veysel;
Ozen, Seza;
Sag, Erdal

Publication type:

Case Study

Diagnosis and treatment of infectious endocarditis caused by Paenibacillus lautus in a small-breed dog: a case report.

Published in:

2025

By:

Chae, Hyung-Kyu;
Ji, Seoyeoun;
Cheon, Doo-Sung;
Yoon, Won-Kyoung;
Hong, Yeon-Jung

Publication type:

Case Study

A Rare Periocular Granulomatous Lesion.

Published in:

Clinical Infectious Diseases, 2025, v. 80, n. 5, p. 1152, doi. 10.1093/cid/ciae544

By:

Deschuttere, Charles;
Zele, Thibaut Van;
Dorpe, Jo Van;
Scheerder, Marie-Angélique De;
Broucke, Steven Van Den;
Ninclaus, Virginie G S

Publication type:

Article

Glossar der Grundbegriffe für die Praxis Parodontitis als Symptom von Syndromerkrankungen.

Published in:

Parodontologie: die Zeitschrift für die Praxis (Berlin, Germany), 2025, v. 36, n. 2, p. 205

By:

Eickholz, Peter;
Klein, Filip;
Petsos, Hari;
Jockel-Schneider, Yvonne;
Kapferer-Seebacher, Ines

Publication type:

Article

Severe intestinal distension following HFNC-assisted awake intubation with conversion to open Nissen fundoplication: a case report.

Published in:

BMC Anesthesiology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12871-025-03166-z

By:

Tavşanoğlu, Zeynep Yasemin;
Yüksek, Ahmet;
Kavaklı, Ali Sait;
Arslan, Ülkü;
Yılmaz, Mehmet

Publication type:

Article

Thoracic SMARCA4-deficient undifferentiated tumor: diagnostic characteristics, molecular insights, and treatment approaches.

Published in:

Oncologist, 2025, v. 30, n. 5, p. 1, doi. 10.1093/oncolo/oyaf121

By:

Song, Junmin;
Gersten, Adam;
Herzberg, Benjamin;
Halmos, Balazs

Publication type:

Article

Secreción ectópica de ACTH por carcinoma neuroendocrino de cérvix.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 439

By:

Authier Cipolla, Eugenia C.;
Touriñan, Mara R.;
Lamonica, Carolina B.;
Bazzi, Agostina R.;
Scagliarino, Noelia Y.;
Tormo, Silvina;
Guyot, Julieta;
Vigna, Paola C.;
Giacoia, Evangelina

Publication type:

Article

Secreción ectópica de ACTH por carcinoma neuroendocrino de cérvix.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 439

By:

Authier Cipolla, Eugenia C.;
Touriñan, Mara R.;
Lamonica, Carolina B.;
Bazzi, Agostina R.;
Scagliarino, Noelia Y.;
Tormo, Silvina;
Guyot, Julieta;
Vigna, Paola C.;
Giacoia, Evangelina

Publication type:

Article

Uncovering Behçet's Syndrome. A Case Report of a Rare Disease in Colombia.

Published in:

Biociencias, 2024, v. 19, n. 2, p. 146, doi. 10.18041/2390-0512/biociencias.2.11943

By:

de Jesús Crespo Vizcaíno, Estiven;
Jiménez Arcia, Luisa Fernanda;
Brito Jacome, Carlos José;
Castellón de la Rosa, Evis Adriana

Publication type:

Article

EMA approved orphan medicines since the implementation of the orphan legislation.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03756-7

By:

Hahl, Eveliina;
Kurko, Terhi;
Koskinen, Hanna;
Airaksinen, Marja;
Sarnola, Kati

Publication type:

Article

Gastric Xanthogranuloma: A Rare Mimicker of Gastrointestinal Stromal Tumor.

Published in:

Indian Journal of Surgery, 2025, v. 87, n. 3, p. 570, doi. 10.1007/s12262-024-04134-6

By:

Naik, Aabid Hassan;
Goyal, Surbhi;
Bansal, Kalpana;
Nag, Hirdaya Hulas

Publication type:

Article

Preclinical research (on rare diseases): we need to talk about health equity.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 347, doi. 10.1007/s00335-024-10080-1

By:

Greenfield, Andy

Publication type:

Article

Successful treatment of aggressive AA amyloidosis with tocilizumab in a patient with polymyalgia rheumatica.

Published in:

Modern Rheumatology Case Reports, 2025, v. 9, n. 1, p. 214, doi. 10.1093/mrcr/rxae050

By:

Atas, Nuh;
Çalışkan, Ali Rıza;
Akatlı, Ayşenur

Publication type:

Article

Paediatric SAPHO syndrome with pleural effusion: Case report of a unique finding in a rare disease.

Published in:

Modern Rheumatology Case Reports, 2025, v. 9, n. 1, p. 168, doi. 10.1093/mrcr/rxae038

By:

Christopher Kruger;
Christine Wang;
Andrew Grim

Publication type:

Article

Triple A Syndrome–A Rare Hereditary Cause of Achalasia.

Published in:

ACG Case Reports Journal, 2025, v. 12, n. 5, p. 1, doi. 10.14309/crj.0000000000001686

By:

Duggal, Shivangini;
Botros, Monica;
Zaw, Emerald;
Mahapatra, Swati;
Guzman, Jesus;
Garrison, Keith;
Mccallum, Richard

Publication type:

Article

Rare Case of Tacrolimus-Induced Acute Pancreatitis in a Liver Transplant Recipient.

Published in:

ACG Case Reports Journal, 2025, v. 12, n. 5, p. 1, doi. 10.14309/crj.0000000000001659

By:

Prado, Renan;
Chatterjee, Arjun;
Zaalishvili, Zurabi;
Kundu, Rupayan;
Junna, Shilpa;
Sengupta, Shreya;
Zein, Nizar;
Mohiuddin, Syed A.

Publication type:

Article

Malignant Common Bile Duct Stricture Secondary to Metastatic Squamous Cell Carcinoma of the Cervix.

Published in:

ACG Case Reports Journal, 2025, v. 12, n. 5, p. 1, doi. 10.14309/crj.0000000000001691

By:

Jaber, Hasan;
Phox, Meagan;
Al Souky, Nader;
Kadado, Kevin;
Mohamed, Wael;
Rowe, Kyle

Publication type:

Article

Esophageal Epidermoid Metaplasia Treated With Endoscopic Submucosal Dissection.

Published in:

ACG Case Reports Journal, 2025, v. 12, n. 5, p. 1, doi. 10.14309/crj.0000000000001698

By:

Al-Bayati, Karam;
Coneys, Gerard;
Cantor, Michael;
Gheorghe, Rodica;
Stone, James K.

Publication type:

Article

A Rare Presentation of a Devastating Disease: Hepatosplenic T-Cell Lymphoma in Crohn’s Disease Without Thiopurine Exposure.

Published in:

ACG Case Reports Journal, 2025, v. 12, n. 5, p. 1, doi. 10.14309/crj.0000000000001695

By:

Chang, Michael;
Frohlinger, Michael;
Williams, Nathan;
George, Lauren

Publication type:

Article

Aptamer–ODN Chimeras: Enabling Cell-Specific ODN Targeting Therapy.

Published in:

Cells (2073-4409), 2025, v. 14, n. 10, p. 697, doi. 10.3390/cells14100697

By:

Xia, Bei;
Zhu, Qubo

Publication type:

Article

Management of Seckel Syndrome with Cerebral Aneurysms: Favorable Outcomes.

Published in:

Journal of Pediatric Neurosciences, 2024, v. 19, n. 3, p. 123, doi. 10.4103/jpn.jpn_143_23

By:

Chand, Prem;
Jan, Aliyan;
Khan, Durray Shahwar A.

Publication type:

Article

Imaging Spectrum of Developmental Anomalies of Pituitary Gland.

Published in:

Journal of Pediatric Neurosciences, 2024, v. 19, n. 3, p. 116, doi. 10.4103/jpn.jpn_138_23

By:

Arora, Suryansh;
Mehra, Shibani;
Joseph, Rahul J.;
Yadav, Pritam

Publication type:

Article

Uremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report.

Published in:

Case Reports in Medicine, 2025, v. 2025, p. 1, doi. 10.1155/carm/3968524

By:

Nabalawi, Rana A.;
Jha, Poulami

Publication type:

Article

Childhood Chronic Progressive Ataxia with Normal Neuroimaging: Think of CONDSIAS.

Published in:

2025

By:

Bhanudeep, Singanamalla;
Koneti, Bramhini Bhargavi

Publication type:

Letter

New Trigger for Stroke-like Episode in Sturge–Weber Syndrome: A Case Report.

Published in:

Children, 2025, v. 12, n. 5, p. 589, doi. 10.3390/children12050589

By:

Altavilla, Emiliano;
De Giacomo, Andrea;
Greco, Anna Maria;
Tramacere, Fernanda;
Quarta, Marilena;
Puscio, Daniela;
Corsalini, Massimo;
Pistilli, Sara;
Sardella, Dario;
Indrio, Flavia

Publication type:

Article

Rare Primary ALK-Positive Anaplastic Large Cell Lymphoma of the Central Nervous System.

Published in:

Oncology (08909091), 2025, v. 39, n. 4, p. 154

By:

Soler, Nathalie;
Amador, Kelly Paz;
Perez, Alexandra;
Solis, Camila;
Reyes, Alexander;
Garcia, Jorge;
Gonzalez Zambrano, Maria Paula;
Manrique Hernández, Edgar Fabián

Publication type:

Article

Dyggve–Melchior–Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.

Published in:

Genes, 2025, v. 16, n. 5, p. 490, doi. 10.3390/genes16050490

By:

Reyes-Silva, Carlos;
Gallardo-Vizuete, Joseline;
Guzmán-Acán, Judith;
Jaramillo-Koupermann, Gabriela;
Cabrera-Andrade, Alejandro

Publication type:

Article

Global Burden of Rare Cancers: Insights from GLOBOCAN 2022 Estimates.

Published in:

Cancers, 2025, v. 17, n. 10, p. 1721, doi. 10.3390/cancers17101721

By:

Elmadani, Mohammed;
Klara, Simon;
Mustafa, Mohammed;
Kiptulon, Evans Kasmai;
Orsolya, Mate

Publication type:

Article

Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.

Published in:

Clinical Medicine Insights: Case Reports, 2025, p. 1, doi. 10.1177/11795476251342637

By:

Aamir, Muhammad;
Faizullah, Fahad;
Khan, Malik W. Z.;
Azeem, Touba;
Khan, Muhammad Awais

Publication type:

Article

A Solid Pseudopapillary Neoplasm in a 10-Year-Old Boy Diagnosed by Endoscopic Ultrasound-Fine-Needle Aspiration (EUS-FNA).

Published in:

Journal of Cytology, 2025, v. 42, n. 2, p. 109, doi. 10.4103/joc.joc_188_23

By:

Aki, Buse;
Erdogan-Durmus, Senay;
Yalcin, Ozben;
Atamanalp, Refik Selim

Publication type:

Article

Unlocking access: a comprehensive analysis of medicines accessibility for rare diseases in Thailand.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03754-9

By:

Suwattanapreeda, Siriwat;
Hirunrassamee, Sanita;
Sooksriwong, Chaoncin;
Maluangnon, Kusawadee;
Chuachantra, Thirapich;
Kuchaisit, Krissana;
Osirisakul, Niti

Publication type:

Article

Understanding the health-related quality of life impacts of caring for children and adolescents with rare progressive life-limiting conditions: key challenges and future research priorities.

Published in:

Quality of Life Research, 2025, v. 34, n. 6, p. 1579, doi. 10.1007/s11136-025-03937-8

By:

Powell, Philip A.;
Carlton, Jill;
Peasgood, Tessa;
Chandler, Fleur;
Godfrey, Josie;
Reuben, Emily

Publication type:

Article