Works matching DE "RARE diseases"

Results: 5000

"Saw‐Tooth" Cardiomyopathy in an Infant.

Published in:

Echocardiography, 2025, v. 42, n. 6, p. 1, doi. 10.1111/echo.70222

By:

Ojha, Vineeta;
Mukherjee, Aprateem;
Nandi, Debanjan;
Misra, Sataroopa;
Gupta, Saurabh kumar;
Jagia, Priya

Publication type:

Article

Bilateral Primary Breast Cancer: A Case of Synchronous Diagnosis and Management of Ductal Carcinoma In Situ and Invasive Ductal Carcinoma.

Published in:

British Journal of Hospital Medicine (17508460), 2025, v. 86, n. 6, p. 1, doi. 10.12968/hmed.2024.1013

By:

Wang, Yan;
Chen, Yong;
Zhang, Bo;
Liu, Xianfu

Publication type:

Article

Podocyte infolding glomerulopathy in a school-aged child.

Published in:

Pediatric Nephrology, 2025, v. 40, n. 8, p. 2501, doi. 10.1007/s00467-025-06710-8

By:

Swarnim, Swarnim;
Ghorui, Arnab;
Kumar, Sneh;
Batra, Vineeta;
Sengupta, Sanchayita;
Kumar, Chandra Mohan

Publication type:

Article

Pleomorphic adenoma and carcinoma ex‐pleomorphic adenoma tumorigenesis: A proteomic analysis.

Published in:

Oral Diseases, 2025, v. 31, n. 3, p. 865, doi. 10.1111/odi.15109

By:

Zanella, Virgílio Gonzales;
Costa, Sara Ferreira Dos Santos;
Schuch, Lauren Frenzel;
Pilar, Emily Ferreira Salles;
Paes Leme, Adriana Franco;
dos Santos, Jean Nunes;
Khurram, Syed Ali;
Elalawy, Fatima;
Bingle, Lynne;
Nunes, Fabio Daumas;
Fonseca, Felipe Paiva;
Vargas, Pablo Agustin;
Martins, Manoela Domingues;
Wagner, Vivian Petersen

Publication type:

Article

Case – Recurrent ureteral inguinal herniation: A rare presentation of post-kidney transplant anuria and acute kidney injury.

Published in:

Canadian Urological Association Journal, 2025, v. 19, n. 7, p. E273, doi. 10.5489/cuaj.9090

By:

MacNevin, Wyatt;
Power, Liam;
Harkness, Laura;
Rubio, Juan Santiago;
Paterson, Nicholas R.;
McGregor, Thomas B.

Publication type:

Article

Primary Management of Localized Gastrointestinal Stromal Tumors With Imatinib Monotherapy: An Alternative to Resection of Patients Precluded From Surgery.

Published in:

Clinical Medicine Insights: Oncology, 2025, p. 1, doi. 10.1177/11795549251346653

By:

Wang, John S;
Ellsworth, Brandon L;
Al-Marayaty, Rusul;
Stencel, Sean;
Obeidin, Farres;
Alexiev, Borislav A;
Chawla, Akhil;
Wayne, Jeffrey D;
Gondi, Vinai;
Hayes, John;
Faruqi, Fahad;
Pollack, Seth M;
Hermida de Viveiros, Pedro

Publication type:

Article

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

Statistical methods to control for confounders in rare disease settings that use external control.

Published in:

Journal of Biopharmaceutical Statistics, 2025, v. 35, n. 4, p. 531, doi. 10.1080/10543406.2024.2341650

By:

He, Jiwei;
Zhang, Di;
Li, Feng

Publication type:

Article

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

Bilateral Auricular Haematoma in a Newborn Baby: A Case Report.

Published in:

Apollo Medicine, 2025, v. 22, p. S72, doi. 10.1177/09760016251330674

By:

Swain, Santosh Kumar

Publication type:

Article

Intramuscular Arteriovenous Malformation of the Triceps Brachii: A Case Study.

Published in:

Apollo Medicine, 2025, v. 22, p. S62, doi. 10.1177/09760016251324983

By:

Jerome, J. Terrence Jose

Publication type:

Article

The Perianal Mirage: Case of Primary Perianal Paget's Disease.

Published in:

Apollo Medicine, 2025, v. 22, p. S28, doi. 10.1177/09760016241297315

By:

Shah, Harsh J.;
Sharma, Swapnil V.;
Dave, Vinayak N.;
Dave, Aniket

Publication type:

Article

A Large Multilocular Mesothelial Splenic Cyst in Adult: A Rare Case Report.

Published in:

Apollo Medicine, 2025, v. 22, p. S10, doi. 10.1177/09760016241286280

By:

Somani, Kavita;
Singh, Pretty;
Poduval, Sujatha

Publication type:

Article

Pancreatic Cystic Lymphangioma Complicated by Haemorrhagic Infarction: A Case Report.

Published in:

Hong Kong Journal of Radiology, 2025, v. 28, n. 1, p. e50, doi. 10.12809/hkjr2317759

By:

Lopez Pua, Patricia Jarmin;
Los Baños, Florence;
Lee Tan, Honey;
Tatco, Victor

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