Works matching DE "RARE diseases"

Results: 5000

Aorto-left ventricular tunnel: case series of a rare disease.

Published in:

2021

By:

Diraneyya, Obayda M;
Alhabshan, Fahad;
Alghamdi, Abdullah;
Moafa, Hussein;
Alnasef, Mohammed;
Kabbani, Mohamed S

Publication type:

Journal Article

Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus: A Rare Type of Mesenchymal Tumors and a Management Challenge.

Published in:

Cancers, 2025, v. 17, n. 13, p. 2185, doi. 10.3390/cancers17132185

By:

Oliver-Perez, Reyes;
Ortega, Marta;
Manzano, Aranzazu;
Estrada-Lorenzo, Jose Manuel;
Martinez-Lopez, Mario;
Zabia, Elena;
Lopez-Gonzalez, Gregorio;
Madariaga, Ainhoa;
Parrilla, Lucia;
Tejerizo, Alvaro;
Gil-Ibañez, Blanca

Publication type:

Article

Primary intestinal lymphangiectasia: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03657-9

By:

Vignes, Stéphane;
Uzzan, Mathieu;
Arrivé, Lionel;
Le Pimpec-Barthes, Françoise;
Fieschi, Claire;
Lefèvre, Guillaume;
Javalet, Manon;
Bettolo, Joanna;
Dubern, Béatrice

Publication type:

Article

Considering Patient Perspective Through Visual Representatives: Telemedicine Gives Voice to Rare Interstitial Lung Disease Patients.

Published in:

Thoracic Research & Practice, 2025, v. 26, n. 4, p. 208, doi. 10.4274/ThoracResPract.2025.2025-1-4

By:

Çetin, Nazlı;
Olcay, Sabri Serhan;
Tapan, Utku;
Çetinkaya, Pelin Duru;
McCormack, Francis X.;
Altınışık, Göksel

Publication type:

Article

Improving Access to Orphan Medicines: Towards a Pharmaceutical Duty of Care.

Published in:

European Health & Pharma Law Review, 2025, v. 8, n. 2, p. 78, doi. 10.21552/ehpl/2025/2/6

By:

den Exter, André

Publication type:

Article

Perinatal transmission and cure of extensively drug-resistant tuberculosis in an infant.

Published in:

African Journal of Thoracic & Critcal Care Medicine, 2025, v. 31, n. 2, p. 72, doi. 10.7196/AJTCCM.2025.v31i2.2346

By:

Singh, V.;
Perumal, R.;
Wessels, M.;
Hai, F.;
Lutchminarain, K.;
Naidoo, K.;
Swe Swe-Han, K.

Publication type:

Article

Large language models-enabled digital twins for precision medicine in rare gynecological tumors.

Published in:

NPJ Digital Medicine, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s41746-025-01810-z

By:

Lammert, Jacqueline;
Pfarr, Nicole;
Kuligin, Leonid;
Mathes, Sonja;
Dreyer, Tobias;
Modersohn, Luise;
Metzger, Patrick;
Ferber, Dyke;
Kather, Jakob Nikolas;
Truhn, Daniel;
Adams, Lisa Christine;
Bressem, Keno Kyrill;
Lange, Sebastian;
Schwamborn, Kristina;
Boeker, Martin;
Kiechle, Marion;
Schatz, Ulrich A.;
Bronger, Holger;
Tschochohei, Maximilian

Publication type:

Article

Acquisition of SETBP1 Mutation During Transformation of Mature Plasmacytoid Dendritic Cell Proliferation to Blastic Plasmacytoid Dendritic Cell Neoplasm in Chronic Myelomonocytic Leukemia.

Published in:

International Journal of Laboratory Hematology, 2025, v. 47, n. 4, p. 756, doi. 10.1111/ijlh.14475

By:

Turingan, Mark Anthony;
Wei, Cuihong;
Chang, Hong

Publication type:

Article

Atypical Melanocytic Cells in the Cerebrospinal Fluid of a 7‐Year‐Old Child With Headaches.

Published in:

International Journal of Laboratory Hematology, 2025, v. 47, n. 4, p. 579, doi. 10.1111/ijlh.14399

By:

Li, Weijie;
Schauwecker, Suzanne;
Gerson, Trevor

Publication type:

Article

Relapse of Monomorphic Epitheliotropic Intestinal T‐Cell Lymphoma (MEITL) in a Pericardial Fluid.

Published in:

International Journal of Laboratory Hematology, 2025, v. 47, n. 4, p. 577, doi. 10.1111/ijlh.14398

By:

Bera, Elsa;
Veresezan, Liana;
Souissi, Maïssa;
Drieux, Fanny;
Lebreton, Pierre;
Bobée, Victor

Publication type:

Article

Pulmonary alveolar proteinosis and anemia may be associated with poor prognosis in patients with IARS1 variants.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03885-z

By:

Li, Shu-Yuan;
Wang, Yu-Ting;
Liu, Teng

Publication type:

Article

Pancreatic Arteriovenous Malformation: A case report on the uncommon cause of gastrointestinal bleeding.

Published in:

Surgical Chronicles, 2025, v. 30, n. 1, p. 140

By:

Pannirselvam, Manivaasan;
Mohamad, Ikhwan Sani;
Wan Mokhter, Wan Mokhzani;
Othman, Muhammad Faeid;
Yusoff, Bazli Md;
Husin, Mohd Hafizuddin

Publication type:

Article

Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03879-x

By:

Nichols, Caitlin A.;
Nysetvold, Ella;
Jackson, Mike;
Tisdale, Ainslie;
Cutillo, Christine M.;
Rego, Shannon;
Cogell, Ashley N.;
Pace, Nelson D.;
Cotter, Kristina

Publication type:

Article

A Rare Case of Thyroid Abscess Requiring Surgical Intervention.

Published in:

Turkish Archives of Pediatrics, 2025, v. 60, n. 4, p. 443, doi. 10.5152/TurkArchPediatr.2025.24211

By:

Korkmaz, Hüseyin Anıl;
Atila, Dincer

Publication type:

Article

An Unusual Side Effect of Metformin--Nightmare and Abnormal Dreams.

Published in:

Journal of Diabetology: Official Journal of Diabetes in Asia Study Group, 2021, v. 12, n. 4, p. 530, doi. 10.4103/jod.jod_22_21

By:

Agrawal, Prabhat Kumar;
Gautam, Ashish;
Pursnani, Nikhil;
Parihar, Awantika;
Singh, Boentika

Publication type:

Article

Rare Presentation of Monkeypox: Initial Tonsillitis Symptoms Leading to Diagnostic Challenges.

Published in:

ENT: Ear, Nose & Throat Journal, 2025, v. 104, n. 8, p. 475, doi. 10.1177/01455613241260769

By:

Huang, Chien-Wei;
Liao, Jyun-Yi;
Lin, Sheng-Chiao

Publication type:

Article

Multiple Oncocytomas of Bilateral Parotid Glands: A Case Report.

Published in:

2025

By:

Aydin, Fahri;
Ayyildiz, Veysel;
Gozgec, Elif;
Koksal, Ali;
Ogul, Hayri;
Kantarci, Mecit

Publication type:

Case Study

The lost chILD: a case report of delayed diagnosis of surfactant protein C deficiency in a 15-year-old African male.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02018-3

By:

Faelli, Nadia;
Chironi, Federica;
Andrenacci, Beatrice;
Patria, Maria Francesca;
Ferrero, Stefano;
Borzani, Irene;
Pucci, Costanza;
Civeriati, Daniela;
Lelii, Mara;
Madini, Barbara;
Rocchi, Alessia;
Daccò, Valeria

Publication type:

Article

RareInsight simplifies the communication of genetic results for rare disease patients.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-09744-y

By:

Coetzer, Kimberly C.;
Zemzem, Firas;
Akurut, Eva;
Wiafe, Gideon Akuamoah;
Awe, Olaitan I.

Publication type:

Article

Huge splenomegaly, a rare presentation of multicentric Castleman's disease in an HIV-infected patient: a case report and literature review.

Published in:

HIV & AIDS Review. International Journal of HIV-Related Problems, 2024, v. 23, n. 3, p. 268, doi. 10.5114/hivar/151536

By:

Hasannezad, Malihe;
Ghadery, Abdolkarim Haji;
Ghaderkhani, Sara;
Vazirian, Armin;
Ameli, Fereshteh;
Azmoudeh-Ardalan, Farid;
Rafiian Naini, Mohammad Reza;
Abbasian, Ladan

Publication type:

Article

Primary gastroesophageal intussusception diagnosed with imaging.

Published in:

Pediatric Radiology, 2025, v. 55, n. 7, p. 1534, doi. 10.1007/s00247-025-06279-2

By:

Abdulkadir, Abdo;
Belachew, Mekonnen Birhanu;
Yimamu, Solomon Tessema;
Aboye, Azmera Gissila;
Belachew, Bethelhem

Publication type:

Article

Rhizobium radiobacter Prosthetic Valve Endocarditis – A Case Report and Literature Analysis.

Published in:

Hospital Pharmacy, 2025, v. 60, n. 4, p. 319, doi. 10.1177/00185787241312869

By:

Shah, Sunish;
Ramakrishnan, Kavitha;
Jawa, Raagini

Publication type:

Article

Bernard-Soulier Syndrome in Pregnancy: A Case Report.

Published in:

Journal of Midwifery & Reproductive Health, 2025, v. 13, n. 3, p. 4974, doi. 10.22038/JMRH.2024.73245.2165

By:

Rastegar, Maryam;
Mirzaeian, Sara;
Firoozi, Mahboobeh

Publication type:

Article

Pediatric Myelodysplastic Syndrome: Updated Classifications and Current Diagnosis and Treatment Challenges.

Published in:

Archives of Pathology & Laboratory Medicine, 2025, v. 149, n. 7, p. 679, doi. 10.5858/arpa.2024-0164-RA

By:

Inam, Zaina;
Miao Pan;
Diab, Yaser;
Schore, Reuven;
Vatsayan, Anant;
Jinjun Cheng

Publication type:

Article

A rare case of an isolated left-sided partial anomalous pulmonary venous connection, diagnosed with transthoracic echocardiography in an adult patient.

Published in:

Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 6, p. 777, doi. 10.33963/v.phj.105318

By:

Żydzik, Łukasz;
Bednarski, Adam;
Bednarek, Agnieszka;
Chyrchel, Bernadeta;
Wojciechowska, Wiktoria;
Rajzer, Marek

Publication type:

Article

Myocardial changes in strain imaging during long-term follow-up of cardiac sarcoidosis.

Published in:

Polish Heart Journal / Kardiologia Polska, 2025, v. 83, n. 6, p. 770, doi. 10.33963/v.phj.105222

By:

Jankowska, Hanna;
Dorniak, Karolina;
Pajkowski, Marcin;
Dubaniewicz, Anna;
Hellmann, Marcin

Publication type:

Article

A Promising Outcome of the Augmented Modified Hummelsheim Procedure in a Challenging Case of Inferior Rectus Hypoplasia.

Published in:

Turkish Journal of Ophthalmology / Turk Oftalmoloji Dergisi, 2025, v. 55, n. 3, p. 1, doi. 10.4274/tjo.galenos.2025.46735

By:

Priscilia, Florentina;
Bani, Anna Puspitasari

Publication type:

Article

Jak pacientka a neurologové dokázali zvítězit nad chronickou formou cluster headache - případ z naší praxe.

Published in:

Neurologie Pro Praxi, 2025, v. 26, n. 3, p. 249, doi. 10.36290/neu.2025.008

By:

Kavrakov, Evgeni

Publication type:

Article

Rare in prevalence, but common in needs: Supportive needs of parents caring for a child with rare disease.

Published in:

Paediatria Croatica, 2025, v. 69, n. 2, p. 99, doi. 10.13112/pc.1033

By:

Bulić, Dajana;
Matijaš, Tena;
Katušić, Ana

Publication type:

Article

Importance of telemedicine in rare diseases: a response to: shortage and distribution of autoimmune bullous disease providers in the United States: a cross-sectional analysis.

Published in:

Archives of Dermatological Research, 2025, v. 317, n. 1, p. 1, doi. 10.1007/s00403-025-04323-7

By:

Schundler, Sabrina F.;
Amber, Kyle T.

Publication type:

Article

Rare diseases: a comprehensive literature review and future directions.

Published in:

Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00099-6

By:

Chaudhary, Aryan;
Kumar, Vidyapati

Publication type:

Article

Tracheal Duplication Cyst Coexisting with Tracheoesophageal Fistula in a Neonate – An Intraoperative Surprise.

Published in:

Journal of Indian Association of Pediatric Surgeons, 2025, v. 30, n. 4, p. 547, doi. 10.4103/jiaps.jiaps_48_25

By:

Aithal, Shrilakshmi;
Jadhav, Avinash;
Nayak, Shubhalaxmi;
Pathak, Manish;
Sinha, Arvind

Publication type:

Article

Giant Lipofibromatosis Over Back Mimicking Thoracic Lipomyelomeningocele in Paediatric Age Group: Case Report and Review of Literature.

Published in:

Journal of Indian Association of Pediatric Surgeons, 2025, v. 30, n. 4, p. 532, doi. 10.4103/jiaps.jiaps_3_25

By:

Bachala, Keerthana;
Sinha, Amit Kumar;
Kumar, Amit;
Dudhani, Shreyas;
Shandilya, Gaurav

Publication type:

Article

Maladies rares en France : organisation et enjeux en hépato-gastro-entérologie.

Published in:

2025

By:

Plessier, Aurélie;
de Lonlay, Pascale;
Gottrand, Frédéric;
Gonzales, Emmanuel

Publication type:

Editorial

Sino‐nasal lymphoma.

Published in:

Equine Veterinary Education, 2025, v. 37, n. 8, p. 400, doi. 10.1111/eve.14127

By:

Hollis, A. R.

Publication type:

Article

Nadir Görülen NGLY1 Gen Mutasyonu: Konjenital Deglikozilasyon-1 Defekti ile İlişkili Gelişimsel Gerilik ve Multisistem Tutulumu Olan Bir Olgu.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 107

By:

Genç, Yağmur Akcaoğlu;
Akar, Halil Tuna;
Bayram, Ayşe Kaçar

Publication type:

Article

Eş Zamanlı Ailesel Akdeniz Ateşi ve Henoch Schönlein Purpurası Tanısı Alan Bir Olgu.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 92

By:

Cücan, Hamdi;
Akınal, Beste;
Sarısoy, Doğacan;
Aydın, Fatma;
Özçakar, Zeynep Birsin

Publication type:

Article

Currarino Sendromu Ön Tanısıyla Takip Edilen Bir Yenidoğan Olgusu.

Published in:

Journal of Ankara University Faculty of Medicine / Ankara Üniversitesi Tip Fakültesi Mecmuasi, 2025, v. 78, p. 92

By:

Kılınç, Ceren;
Kaymaz, Doğan;
Evin, Ege;
Ergün, Bilgesu Arıkan;
Bayatlı, Eyüp;
Ergün, Ergun;
Mutlu, Hatice;
Erdeve, Emel Okulu2,Ömer;
Atasay, Fatma Begüm;
Kınık, Hüseyin Hakan;
Arsan, Saadet

Publication type:

Article

A Hypergraph powered approach to Phenotype-driven Gene Prioritization and Rare Disease Prediction.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-04428-z

By:

Natarajan, Shrinithi;
Kundapuram, Niveditha;
Bhaskar, Nisarga;
Policharla, Sai Sailaja;
Das, Bhaskarjyoti

Publication type:

Article

New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00500-9

By:

Fernández-Suárez, Elena;
González-del Pozo, María;
Méndez-Vidal, Cristina;
Martín-Sánchez, Marta;
Mena, Marcela;
García-Nuñez, Alejandro;
Bravo-Gil, Nereida;
Morillo-Sánchez, María José;
Rodríguez-de la Rúa, Enrique;
Borrego, Salud;
Antiñolo, Guillermo

Publication type:

Article

Impacted mandibular first molar with root encircling the inferior alveolar nerve and an odontogenic cyst formation.

Published in:

BMC Oral Health, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12903-025-06400-9

By:

Ru, Lu;
Ding, Shuxin;
Zou, Bo

Publication type:

Article

Looking for a needle in a haystack: a case study of rare disease care in neonatology.

Published in:

Journal of Perinatal Medicine, 2025, v. 53, n. 6, p. 733, doi. 10.1515/jpm-2025-0090

By:

Czaplińska, Natalia;
Kociszewka-Najman, Bozena;
Kosiński, Przemyslaw;
Stanojević, Milan

Publication type:

Article

Malignant glomus tumor: a rare case with an ultrastructural study.

Published in:

Ultrastructural Pathology, 2025, v. 49, n. 4, p. 391, doi. 10.1080/01913123.2025.2499140

By:

Guillermo Ernesto, Corredor-Alonso;
Pedro, Arredondo-Ruiz;
Jorge Luis, Martinez-Tlahuel;
Hugo Ricardo, Dominguez-Malagon

Publication type:

Article

Crowdsourcing Compassion: Humane AI and the Rise of Patient-Led Discovery.

Published in:

CyberPsychology, Behavior & Social Networking, 2025, v. 28, n. 7, p. 454, doi. 10.1089/cyber.2025.0203

By:

Wiederhold, Brenda K.

Publication type:

Article

Nitisinone desensitization protocol, case report of hereditary Tyrosinemia type 1 with successful treatment and outcomes.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03666-8

By:

Vallejo, Michael;
Villarreal, Valentina;
Guardiola, María Alejandra;
Bachiller, William;
Moreno, Malory;
Vargas, Pedro;
López, Lyssethe Juliana

Publication type:

Article

Cutaneous Leishmaniasis: A Rare Cause of Perichondritis.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 4, p. 221, doi. 10.4103/ijd.ijd_272_24

By:

Acar, Ayda;
Oraloğlu, Göktürk;
Ulusoy, Fatmagül Dirican;
Akalın, Taner;
Töz, Seray;
Türk, Bengü Gerçeker

Publication type:

Article

Pediatric Schamberg's Disease: A Rare Clinical Entity.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 4, p. 213, doi. 10.4103/ijd.ijd_453_23

By:

Saini, Poonam;
Kansal, Naveen Kumar;
Durgapal, Prashant

Publication type:

Article

Atypical Presentation of Palisaded Neutrophilic Granulomatous Dermatitis.

Published in:

Indian Journal of Dermatology, 2025, v. 70, n. 4, p. 209, doi. 10.4103/ijd.ijd_352_24

By:

Mannu, Anand;
Vasudevan, Biju;
Krishnan, Lekshmipriya;
Kashif, Ahmed Waheed;
Das, Pankaj;
Mishra, Sushmita

Publication type:

Article

Повний генітальний пролапс, ускладнений гострим порушенням функції тазових органів (клінічний випадок).

Published in:

Reproductive Health of Woman, 2025, v. 82, n. 3, p. 71, doi. 10.30841/2708-8731.3.2025.331533

By:

Голяновський, О. В.;
Тимків, У. М.;
Клюзко, І. В.;
Губар, І. А.;
Лучицька, І. М.;
Островець, К. С.;
Кузьмук, Л. П.

Publication type:

Article

Beyond the Broken Heart: Unusual Triggers of Stress Cardiomyopathy – A Narrative Review.

Published in:

Heart & Mind, 2025, v. 9, n. 3, p. 215, doi. 10.4103/hm.HM-D-24-00114

By:

Cacciapuoti, Fulvio;
Capone, Valentina;
Crispo, Salvatore;
Gottilla, Rossella;
Rocca, Fulvio La;
Esposito, Mafalda;
Mauro, Ciro

Publication type:

Article