Results 111 to 120 of about 10,056 (300)

A Silvery Hair Revolution: Case Report of Marie Antoinette Syndrome in a Child. [PDF]

Skin Appendage Disord
Golubov-Mandujano M, Yamazaki-Nakashimada MA, Ugalde-Trejo NX, Scheffler-Mendoza SC, Sáez-de-Ocariz M.   +4 more
europepmc   +1 more source

Proteomic Analysis of Golden Sputum Reveals Pulmonary Complement Activation During Acute Chest Syndrome in Children With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Acute chest syndrome (ACS) is one of the most common severe complications of sickle cell disease (SCD). In recent years, a major role of inflammation and innate immunity has been evidenced, but ACS pathophysiology remains incompletely understood, and therapeutic options are limited.
Slimane Allali, Nabiha Sbeih, Rachel Rignault‐Bricard, Johanna Bruce, Morgane Le Gall, Claire Heilbronner, Noemie de Cacqueray, Sofia Angyalosy, Melissa Taylor, Joséphine Brice, Mariane de Montalembert, Martina Bevacqua, Emilie‐Fleur Gautier, Olivier Hermine, Thiago Trovati Maciel   +14 more
wiley   +1 more source

Clinical Features, Genetic Background, and Outcomes in Chil-dren with Mendelian Susceptibility to Mycobacterial Disease Diagnosed with Mycobacterial Tuberculosis Complex in Saudi Arabia: Case Series

The Journal of Medicine, Law & Public Health
Background: While live attenuated BCG immunization is generally well tolerated by children, those with certain immunodeficiencies, including Mendelian susceptibility to mycobacterial disease (MSMD) are at high risk for potential adverse reactions. These
Maram Alotaiby, Abdulrahim Abdullahi, Omar Bagaber, Waad Alharthi, Doaa Alabbas, Eman Badyee, Mohammad Almasoud, Nada Abutaleb, Mofarah Alzahrani, Dayel Alshahrani   +9 more
doaj  

Standing Still: A Case of Stiff Person Syndrome and Common Variable Immunodeficiency. [PDF]

Cureus
Khazar V, Escobar S, Kim J, McClain S, Szema AM.   +4 more
europepmc   +1 more source

Hetrombopag Added to Cyclosporine as the First‐Line Treatment for Patients With Non‐Severe Aplastic Anemia: A Phase 2 Multicenter Trial

American Journal of Hematology, EarlyView.
ABSTRACT Non‐severe aplastic anemia (NSAA) is a heterogeneous bone marrow failure syndrome with limited standardized treatment options. Cyclosporine A (CsA) monotherapy often yields suboptimal responses, highlighting an unmet clinical need for more effective therapies.
Lele Zhang, Ruonan Li, Qian Liang, Weiwang Li, Hong Pan, Zhen Gao, Liwei Fang, Jingyu Zhao, Xiao Yu, Zhexiang Kuang, Neng Nie, Jianping Li, Jinbo Huang, Xin Zhao, Meili Ge, Yizhou Zheng, Jun Li, Hong Zhang, Jun Shi   +18 more
wiley   +1 more source

Editorial: Celiac disease in children. [PDF]

Front Pediatr
Sahin Y, Urganci N, Kori M, Sevinc E.
europepmc   +1 more source

Effect of Red Blood Cell Transfusion on Inflammatory and Angiogenic Pathways in Patients With Sickle Cell Disease

American Journal of Hematology, EarlyView.
ABSTRACT Sickle cell disease (SCD) is a chronic inflammatory state, characterized by increased plasma values of inflammatory and angiogenic proteins. Although red blood cell (RBC) transfusion is known to have immunomodulatory effects in other conditions, its potential effects on the inflammatory state in SCD remain largely unknown.
Lydian A. de Ligt, Sanjay R. Thakoerdin, Maud Zwolsman, Gaby Stegemann, Hanke Matlung, Taco W. Kuijpers, Bart J. Biemond, Karin Fijnvandraat, Robin van Bruggen, Erfan Nur   +9 more
wiley   +1 more source

DiGeorge Syndrome Complicated by Secondary Antiphospholipid Syndrome Presenting With Vascular Thrombosis. [PDF]

Clin Case Rep
Khalid AU, Rajab I, Saife S, Zahran A, Makhoul G, Munshi H, Chaudhry I, Lahita R.   +7 more
europepmc   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Pneumonija kod bolesnika sa imunskim deficitom [PDF]

Vojnosanitetski Pregled, 2002
Marinković Olivera, Aćimović Slobodan
doaj   +1 more source