Results 41 to 50 of about 32,645 (198)

Blau syndrome with hypertension and hepatic granulomas: a case report and literature review

Frontiers in Pediatrics, 2023
BackgroundBlau syndrome (BS) is a monogenic disorder caused by NOD2 gene variants characterized by the triad of granulomatous polyarthritis, rash, and uveitis. Atypical symptoms were recognized in one-third to one-half of individuals with BS.
Fangling Yao, Fangling Yao, Bei Tan, Di Wu, Min Shen   +4 more
doaj   +1 more source

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Real‐world effectiveness and safety of acalabrutinib in chronic lymphocytic leukaemia: Multicentre experience

British Journal of Haematology, EarlyView.
Summary Chronic lymphocytic leukaemia (CLL) primarily affects elderly patients with comorbidities, yet real‐world data on acalabrutinib, a second‐generation Bruton's Tyrosine Kinase (BTK) inhibitor, remain limited outside clinical trials, particularly in Italy.
Andrea Duminuco, Dario Leotta, Alessandro Allegra, Daniele Caracciolo, Laura Caruso, Annalisa Chiarenza, Vittorio Del Fabro, Valentina Di Martina, Amalia Figuera, Paolo Fabio Fiumara, Massimo Gentile, Vanessa Innao, Salvatrice Mancuso, Enrica Antonia Martino, Antonio Mosca, Giovanna Motta, Francesca Pedalino, Marco Rossi, Fabio Stagno, Giorgio Tona, Francesco Di Raimondo, Giuseppe Alberto Palumbo   +21 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Gaucher's disease: report of 11 cases with review of literature

The Pan African Medical Journal, 2015
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to
Laila Essabar, Toufik Meskini, Najat Lamalmi, Said Ettair, Naima Erreimi, Nezha Mouane   +5 more
doaj   +1 more source

Hepatosplenomegaly in a “Lost Boy of Sudan” [PDF]

Baylor University Medical Center Proceedings, 2007
(2007). Hepatosplenomegaly in a “Lost Boy of Sudan”. Baylor University Medical Center Proceedings: Vol. 20, No. 3, pp. 299-302.
Scott C, Adams, William G, Schucany
openaire   +2 more sources

Prognostic Value of Skin Lesion Characteristics in Subcutaneous Panniculitis‐Like T‐Cell Lymphoma: A Retrospective Cohort Study Assessing the Applicability of T Category of the TNM Classification for Primary Cutaneous Lymphomas Other Than Mycosis Fungoides and Sézary Syndrome

International Journal of Dermatology, EarlyView.
Subcutaneous panniculitis‐like T‐cell lymphoma. Survival outcomes according to the presence of hemophagocytic lymphohistiocytosis (HLH) and T category. Relapse‐free survival was inferior in patients presenting with generalized (T3) skin lesions. Overall survival was poor in patients with HLH. Relapse‐free survival was also reduced in patients with HLH.
Myoung Eun Choi, Joon Min Jung, Soo Hyun Jeon, Chong Hyun Won, Sung Eun Chang, Mi Woo Lee, Woo Jin Lee   +6 more
wiley   +1 more source

Clinical and imaging features of malignant infantile osteopetrosis

The Turkish Journal of Pediatrics, 2017
Human osteopetrosis is a rare genetic disorder caused by osteoclast failure. It encompasses a group of highly heterogeneous forms, ranged widely in severity.
Miniar Tfifha, Mehdi Gaha, Wided Gamaoun, Jalel Chemli, Sameh Mabrouk, Saida Hassayoun, Noura Zouari, Hela Jemni, Saoussen Abroug   +8 more
doaj   +1 more source

Spatiotemporal Analysis of the Primary Factors and Risk Quantification of Human Brucellosis Prevention and Control in Zhejiang Province of China

Zoonoses and Public Health, EarlyView.
ABSTRACT Introduction Brucellosis is a major zoonotic disease that poses significant public health and socio‐economic threats. In China, human brucellosis incidence has continued to rise, including in highly developed regions such as Zhejiang Province, despite relatively low levels of livestock husbandry.
Juan Li, Wenjing Li, Lingyan Zhao, Wei Jiang, Yongzhong Song, Jimin Sun, Hongli Zhang, Huaiping Zhu   +7 more
wiley   +1 more source

Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher Disease

American Journal of Hematology, Volume 101, Issue 9, Page 2197-2213, September 2026.
ABSTRACT Chronic antigenic stimulation is implicated in the pathogenesis of monoclonal gammopathy and multiple myeloma, yet longitudinal human evidence linking sustained antigen exposure to modifiable clonal plasma cell evolution remains limited. Gaucher disease (GD), caused by biallelic GBA1 pathogenic variants, is characterized by accumulation of ...
Noor Ul Ain, Noffar Bar, Lilu Guo, Katherine Klinger, Punita Gupta, Atta Ur Rahman, Ruhua Yang, Yanhong Deng, Natalia Neparidze, Shiny Nair, Pramod K. Mistry   +10 more
wiley   +1 more source