Works matching DE "RARE diseases"

Results: 5000

A rare benign tumor of breast masquerading on fine needle aspiration cytology: A case report.

Published in:

2017

By:

Srinivasamurthy, Banushree C.;
Bhat, Ramachandra V.;
Gopal, Sri Vengadesh

Publication type:

Case Study

Primary amyloidosis of the breast excised using an oncoplastic reduction approach.

Published in:

Breast Disease, 2020, v. 39, n. 2, p. 101, doi. 10.3233/BD-190424

By:

Upadhyaya, Siddhi N.;
Fan, Betty;
Bernard, Steven L.;
Samaras, Christy J.;
Valente, Stephanie A.

Publication type:

Article

Rethinking 'rare' PINK1 Parkinson's disease: A meta-analysis of geographical prevalence, phenotypic diversity, and α-synuclein pathology.

Published in:

Journal of Parkinson's Disease, 2025, v. 15, n. 1, p. 41, doi. 10.1177/1877718X241304814

By:

Yin, Eden Paige;
Dieriks, Birger Victor

Publication type:

Article

Disease-Modifying Therapies for Multiple System Atrophy: Where Are We in 2022?

Published in:

Journal of Parkinson's Disease, 2022, v. 12, n. 5, p. 1369, doi. 10.3233/JPD-223183

By:

Sidoroff, Victoria;
Bower, Pam;
Stefanova, Nadia;
Fanciulli, Alessandra;
Stankovic, Iva;
Poewe, Werner;
Seppi, Klaus;
Wenning, Gregor K.;
Krismer, Florian

Publication type:

Article

A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson's Disease: Study Protocol and Design.

Published in:

Journal of Parkinson's Disease, 2020, v. 10, n. 3, p. 1195, doi. 10.3233/JPD-202019

By:

Schneider, Ruth B.;
Myers, Taylor L.;
Rowbotham, Helen M.;
Luff, Marie K.;
Amodeo, Katherine;
Sharma, Saloni;
Wilson, Renee;
Jensen-Roberts, Stella;
Auinger, Peggy;
McDermott, Michael P.;
Alcalay, Roy N.;
Biglan, Kevin;
Kinel, Daniel;
Tanner, Caroline;
Winter-Evans, Reni;
Augustine, Erika F.;
Cannon, Paul;
Holloway, Robert G.;
Dorsey, E. Ray

Publication type:

Article

Epilepsy in KCNH1-related syndromes.

Published in:

Epileptic Disorders, 2016, v. 18, n. 2, p. 123, doi. 10.1684/epd.2016.0830

By:

Mastrangelo, Mario;
Scheffer, Ingrid E.;
Bramswig, Nuria C.;
Nair, Lal. D.V.;
Myers, Candace T.;
Dentici, Maria Lisa;
Korenke, Georg C.;
Schoch, Kelly;
Campeau, Philippe M.;
White, Susan M.;
Shashi, Vandana;
Kansagra, Sujay;
Van Essen, Anthonie J.;
Leuzzi, Vincenzo

Publication type:

Article

Rhizomelic Chondrodysplasia Punctata Type 1.

Published in:

Neonatology Today, 2025, v. 20, n. 5, p. 49

By:

Summerlin, Thanh;
Philips, Joseph B.

Publication type:

Article

Aseptic osteonecrosis of the jaw in a patient with HIV on tenofovir.

Published in:

Baylor University Medical Center Proceedings, 2025, v. 38, n. 4, p. 561, doi. 10.1080/08998280.2025.2457077

By:

Bhattarai, Shraddha;
Bhattarai, Shashank;
Dondapati, Lavanya;
Macapinlac, Eric;
Kolade, Victor

Publication type:

Article

Safety and Efficacy of Long‐Term Treatment of Type 1 Plasminogen Deficient Patients With Intravenous Plasminogen Replacement Therapy.

Published in:

Haemophilia, 2025, v. 31, n. 3, p. 477, doi. 10.1111/hae.70019

By:

Shapiro, Amy D.;
McDaniel, Heather;
Decker, Robert W.;
Nakar, Charles;
Lorber, Jeremy;
Thukral, Neelam;
Parker, Joseph M.;
Thibaudeau, Karen

Publication type:

Article

Takayasu's Arteritis with Systemic Lupus Erythematosus: A Case Report.

Published in:

Clinical Medicine Insights: Cardiology, 2025, p. 1, doi. 10.1177/11795468251350222

By:

Jindal, Himanshu;
Suresh, Vinay;
Kamaraj, Balakrishnan;
Jha, Mayank;
Verma, Nikhil;
Sharma, Awadhesh Kumar;
Purushothaman, P.;
Kumar, Shubham;
Mehta, Rachana;
Sah, Ranjana;
Verma, Amogh

Publication type:

Article

Mediastinal mass in an infant: A rare presentation of extrapulmonary tuberculosis.

Published in:

Journal of Postgraduate Medicine, 2025, v. 71, n. 2, p. 98, doi. 10.4103/jpgm.jpgm_16_25

By:

Radhika, R;
Tullu, MS;
Shamla, O;
David, JJE

Publication type:

Article

CT Coronary Artery Calcium Progression After an Initial Score of Zero.

Published in:: Clinical Cardiology Alert, 2025, v. 44, n. 7, p. 1
Publication type:: Article

Calvarial melorheostosis: an extremely rare case and diagnostic challenge.

Published in:

2025

By:

Wenokor, Gregory;
Suster, David;
de Leon, Ada Baisre;
Liu, James K.;
Wenokor, Cornelia;
Nimchinsky, Esther A.

Publication type:

Case Study

Rare Hemoglobin Variant Hb Handsworth (HBA1:c.55 G>C): Leads to False Positive Diagnosis of Hb S.

Published in:

Clinical Laboratory, 2025, v. 71, n. 6, p. 1117, doi. 10.7754/Clin.Lab.2024.241220

By:

Chengxin Wang;
Qingfu Li;
Weidong Huang;
Bingxin Shao

Publication type:

Article

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:

2025

By:

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

Publication type:

Case Study

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

Published in:

2025

By:

Bosco, Samuel;
Ding, James;
Fundakowski, Christopher

Publication type:

Case Study

Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03818-w

By:

Briscoe, Simon;
Martin Pintado, Clara;
Sutcliffe, Katy;
Melendez-Torres, G. J.;
Garside, Ruth;
Lawal, Hassanat M.;
Orr, Noreen;
Shaw, Liz;
Thompson Coon, Jo

Publication type:

Article

A Case of Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS) with Associated Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS) and a Review of Literature

Published in:

2025

By:

Mirg, Shivam;
Das, Animesh;
Parashar, Akhil;
Tripathi, Manjari;
Garg, Ajay

Publication type:

Letter

Cerebral Venous Thrombosis: Selected Persisting Areas of Uncertainty.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 307, doi. 10.4103/aian.aian_162_25

By:

Field, Thalia S;
Aaron, Sanjith;
Chetty, Sarvani;
Fuerte-Hortigon, Alejandro;
Garah, Mays;
Wang, Yundi

Publication type:

Article

In this Issue.

Published in:

Clinical Pharmacology & Therapeutics, 2025, v. 118, n. 1, p. 9, doi. 10.1002/cpt.3710

By:

Gerding, Alethea

Publication type:

Article

Challenges and Possible Strategies to Address Them in Rare Disease Drug Development: A Statistical Perspective.

Published in:

Clinical Pharmacology & Therapeutics, 2025, v. 118, n. 1, p. 62, doi. 10.1002/cpt.3631

By:

Chen, Jie;
Nie, Lei;
Lee, Shiowjen;
Chu, Haitao;
Tian, Haijun;
Wang, Yan;
He, Weili;
Jemielita, Thomas;
Gruber, Susan;
Song, Yang;
Tamura, Roy;
Tian, Lu;
Zhao, Yihua;
Chen, Yong;
van der Laan, Mark;
Lee, Hana

Publication type:

Article

Fahr's Syndrome -- A Rare Manifestation of Hypoparathyroidism.

Published in:

Journal of the Indian Academy of Clinical Medicine, 2025, v. 26, n. 1/2, p. 66

By:

Khanna, Twinkle;
Sharma, Chavi;
Khutan, Himanshu;
Garg, Ravinder;
Singh, Swaranjeet;
Batheja, Lovish

Publication type:

Article

A case report of acute idiopathic longitudinal extensive transverse myelitis.

Published in:

Turkish Journal of Physical Medicine & Rehabilitation (2587-1250), 2025, v. 71, n. 2, p. 255, doi. 10.5606/tftrd.2025.15334

By:

Paltacı, Yasin;
Baygutalp, Fatih;
Şahin, Mestan

Publication type:

Article

Refractory Epidermolysis Bullosa Pruriginosa with Rapid Clinical Response to Upadacitinib Treatment.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2025, v. 19, n. 2, p. 1, doi. 10.4274/tjd.galenos.2024.83803

By:

Utlu, Zeynep;
Arslan, Zeynep;
Ural, Zeynep Karaca

Publication type:

Article

An Elusive Diagnosis: Primary Breast Angiosarcoma with Metastatic Spread-A Case Report and Literature Review.

Published in:

Medical Bulletin of Haseki / Haseki Tip Bulteni, 2025, v. 63, n. 2, p. 1, doi. 10.4274/haseki.galenos.2025.25733

By:

Avci, Muhammed Bahadir;
Cangoz, Kayra;
Kayacetin, Serra;
Yalcin, Abdussamed

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

Excision of Prostatic Utricle: When? How?

Published in:

Journal of Urological Surgery, 2025, v. 12, n. 2, p. 1, doi. 10.4274/jus.galenos.2025.2024-11-7

By:

Karakurt, Gökhan;
Keskin, Hakan;
Doğan, Hasan Serkan;
Tekgül, Serdar

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

Lumbar Intraspinal Calcium Pyrophosphate Deposition: A Comprehensive Case Study.

Published in:

Journal of Central Nervous System Disease, 2025, p. 1, doi. 10.1177/11795735251347335

By:

López-Navarro, Juan M.;
Sandoval-Lopez, Diego A.;
Popovic, Pavle;
Karantzoulis, Vasileios;
Bittar, Zeid;
Santos, Edgar;
Vazifehdan, Farzam

Publication type:

Article

Update on disseminated cryptococcosis in non-HIV infected children.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02011-w

By:

Zhang, Xiao-bo;
Lin, Huiying;
Wu, Xiao;
Nong, Guang-min

Publication type:

Article

Bullous eruption with paraphimosis: The unexpected dermoscopic clues.

Published in:

Indian Journal of Sexually Transmitted Diseases & AIDS, 2025, v. 46, n. 1, p. 86, doi. 10.4103/ijstd.ijstd_145_24

By:

Rathi, Parth;
Srivastava, Prakhar;
Khunger, Niti;
Dash, Anshuman

Publication type:

Article

Kissing nevus or divided nevus of the uncircumcised penis in an Indian man.

Published in:

Indian Journal of Sexually Transmitted Diseases & AIDS, 2025, v. 46, n. 1, p. 64, doi. 10.4103/ijstd.ijstd_19_24

By:

Srivastava, Prakhar;
Singh, Vishvender;
Srivastava, Prachi;
Misri, Rachita;
Khunger, Niti

Publication type:

Article

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

A rare cause of back pain in a 68‐year‐old female: T12‐L3 blocked vertebrae.

Published in:

2025

By:

Yazar, Beytullah;
Uğur, Abdullah Emre;
Özçakar, Levent

Publication type:

Case Study

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