Results 61 to 70 of about 9,312 (200)

Pneumococcal purpura fulminans in asplenic or hyposplenic patients: a French multicenter exposed-unexposed retrospective cohort study

Critical Care, 2020
Background Pneumococcal infections remain the main cause of overwhelming post-splenectomy infections, and purpura fulminans may develop in almost 20% of patients with overwhelming post-splenectomy infection.
Damien Contou, Rémi Coudroy, Gwenhaël Colin, Jean-Marc Tadié, Martin Cour, Romain Sonneville, Armand Mekontso Dessap, Nicolas de Prost, for the HOPEFUL Study Group   +8 more
doaj   +1 more source

Síndrome poliglandular autoimune tipo 1: descrição de caso e revisão da literatura [PDF]

, 2012
Autoimmune polyendocrine syndrome type 1 (APECED) is a rare autosomal recessive disorder characterized by autoimmune multiorgan attack. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which
Dias-da-Silva, Magnus Régios, Lazaretti-Castro, Marise, Weiler, Fernanda Guimarães   +2 more
core   +2 more sources

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain, Maya Vaishnaw, Pramod. K. Mistry   +2 more
wiley   +1 more source

64 MDCT 3D Assessment of Complex Congenital Heart and Bilateral Tracheal Bronchi: A Case Report

Journal of Health Science and Medical Research (JHSMR), 2015
The tracheal bronchus manifests a variety of tracheobronchial anomalies. Bilateral tracheal bronchi are rare. Anomalous tracheal bronchus is usually asymptomatic.
Supika Kritsaneepaiboon, Supaporn Roymanee   +1 more
doaj  

Asplenia Syndrome Complicated with Acute Gastric Volvulus: A Case Report and Review of the Literature

Sri Lanka Journal of Medicine
Acute gastric volvulus in asplenia syndrome is a very rare presentation and only a few cases have been published in the literature. A 10-month-old baby girl with a history of complex congenital cyanotic heart disease presented with a history of repeated ...
M. C. Wettasinghe, N. D. Wickramasinghe, J. Fernando   +2 more
doaj   +1 more source

Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares

Pediatric Rheumatology Online Journal, 2020
Background Heme oxygenase-1 (HMOX1) catalyzes the metabolism of heme into carbon monoxide, ferrous iron, and biliverdin. Through biliverdin reductase, biliverdin becomes bilirubin.
Alice S. Chau, Bonnie L. Cole, Jason S. Debley, Kabita Nanda, Aaron B. I. Rosen, Michael J. Bamshad, Deborah A. Nickerson, Troy R. Torgerson, Eric J. Allenspach   +8 more
doaj   +1 more source

Two Cases of Co-Infection with Babesiosis and Lyme Disease [PDF]

, 2012
Case 1 The patient is a 71-year-old female with past medical history significant for hypothyroidism and hyperlipidemia who presented to Thomas Jefferson University Hospital (TJUH) with complaints of myalgias for 6 weeks duration. The patient stated that
DeCicco, MD, Anthony, Jungkind, PhD, Donald, Kelly, MD, Cecilia, Latreille, MD, Michael, Peiris, MD, B. Niluk   +4 more
core   +2 more sources

Malaria Screening and Treatment in Hematopoietic Cell Transplant Donors and Sickle Cell Disease Candidates/Recipients: A Case Series Using Malaria Polymerase Chain Reaction Testing and a Literature Review

Transplant Infectious Disease, Volume 28, Issue 1, January/February 2026.
Malaria polymerase chain reaction (PCR) testing is more sensitive than conventional diagnostics. Routine PCR screening of at‐risk asymptomatic hematopoietic cell donors and transplant candidates may prevent unnecessary deferrals or treatment. In our experience, PCR negativity during screening or after treatment supports donor/candidate eligibility ...
Mary M. Czech, Sanchita Das, Emily Limerick, Courtney Fitzhugh, Matthew Hsieh, Jennifer Cuellar‐Rodriguez   +5 more
wiley   +1 more source

Vacunas en situaciones especiales. Embarazo, inmunodepresión, transplante [PDF]

, 2005
En las recomendaciones de vacunación de grupos de población que por su situación de salud requieren medidas específicas deben conjugarse: Las limitaciones en la aplicación de determinadas vacunas por la mayor probabilidad de efectos secundarios en estos ...
Farjas Abadía, Mª Pilar, Louro González, Arturo, Zubizarreta Alberdi, Raquel   +2 more
core   +1 more source

Altered translation of GATA1 in Diamond-Blackfan anemia [PDF]

, 2013
Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-Blackfan anemia (DBA)[superscript 1, 2], congenital asplenia[superscript 3] and T cell leukemia[superscript 4].
A Bolze, A Subramanian, Alan H Beggs, BL Ebert, CD Trainor, CG Gkogkas, Colin A Sieff, D Rousseau, DC Dieterich, DG Nathan, DS Peabody, E Kobayashi, E Santini, Eric S Lander, F Gebauer, H Moniz, H Torihara, Hanna T Gazda, Harvey F Lodish, HF Lodish, HT Gazda, HT Gazda, J Cmejlova, J Flygare, J Hu, J Wechsler, Jason R Gotlib, Jennifer C Eng, JJ Welch, JM Lipton, JR Babendure, K Chylicki, K De Keersmaecker, L Garçon, Leif S Ludwig, M Kozak, MJ Weiss, N Kondrashov, NJ Moerke, P Jaako, P Shah, PM Lansdorp, Prathapan Thiru, R Horos, Roxanne Ghazvinian, S Dutt, S Xue, SH Orkin, Stephen W Eichhorn, Tracy I George, V Matys, VG Sankaran, VG Sankaran, VG Sankaran, Vijay G Sankaran   +54 more
core   +2 more sources