Results 91 to 100 of about 1,575,351 (297)

X-linked Chronic Granulomatous Disease Presenting Clinically as Tuberculosis in a 10-Month-Old Child: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency with an estimated incidence of 1 in 200,000-250,000 live births caused by defects in the Nicotinamide Adenine Dinucleotide Phosphate (NADPH) oxidase complex.
Sahibjot Singh Romana, Uday Pratap Singh, Kanav Goyal, Arnav Jagota   +3 more
doaj   +1 more source

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

Molecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner, Pierre Tennstedt, Randi C. Pose, Christian Müller, Katharina Besler, Svenja Schneegans, Malik Alawi, Marie C. Roesch, Sven Peine, Desiree Bonci, Joanna Budna‐Tukan, Evi Lianidou, Catherine Alix‐Panabières, Derya Tilki, Klaus Pantel   +14 more
wiley   +1 more source

GATA2 deficiency presenting with Hodgkin's lymphoma and cryptogenic organizing pneumonia: a case report of two siblings

Frontiers in Medicine
IntroductionGATA2 deficiency is a rare genetic disorder affecting hematopoiesis, immune function, and the lymphatic system, predisposing individuals to infections and hematologic malignancies.
Lila H. Abu-Hilal, Yumna Njoum, Ayah Abulehia, Duha I. Barghouthi, Hussam Al-Ameer, Mohammad Bourini, Mohammad Debas   +6 more
doaj   +1 more source

Developmental programmes drive cellular plasticity, disease progression and therapy resistance in lung adenocarcinoma

Molecular Oncology, EarlyView.
This study shows that lung adenocarcinomas exploit developmental branching morphogenesis to acquire a therapy resistant basal‐like tumour cell state. This process was found to be regulated by combined TP53 loss‐of‐function and type‐I interferon signalling, identifying a novel axis for biomarker and therapeutic target discovery.
Kamila J Bienkowska, Stephany Gallardo, Nur S. Zainal, Leena Arora, Matthew Ellis, Maria‐Antoinette Lopez, Judith Austine, Sai Pittla, Serena J Chee, Aiman Alzetani, Emily C Shaw, Christian H Ottensmeier, Gareth J Thomas, Christopher J Hanley   +13 more
wiley   +1 more source

Secondary antibody deficiencies in the modern era: emerging trends, diagnostic pitfalls, and advances in personalised management

Frontiers in Immunology
Secondary antibody deficiencies (SADs) are a significant but frequently under-recognised group of acquired immunodeficiencies. They may arise in various clinical settings, including haematological malignancies, immunosuppressive therapies, and protein ...
Shuayb Elkhalifa, Shuayb Elkhalifa, Fulvio Salvo, Haggar Elbashir, Irfan Shafiq, Saed Isse, Mohamed Abuzakouk, Mohamed Medhat Gaber, Rehan Bhana   +8 more
doaj   +1 more source

Finding novel vulnerabilities of hypomorphic BRCA1 alleles

Molecular Oncology, EarlyView.
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder, Klaas de Lint, Hồ Mỹ Phúc Võ, Mariana M. Góis, Rosalie A. Kampen, Marta San Martin Alonso, Ilse Nootenboom, Veronica Garzero, Tiemen J. Wendel, Rob M. F. Wolthuis, Sylvie M. Noordermeer   +10 more
wiley   +1 more source

Other title: Healthcare Associated Infections annual report; Other title: Report to the legislature concerning the status of the Healthcare Associated Infections Initiative

, 2017
Annual; Began with Oct. 1, 2008.; "An Act Concerning Hospital Acquired Infections."; At head of title: State of Connecticut.; Volume for Oct.
Healthcare Associated Infections Program (Conn.)
core   +3 more sources

Recurrent respiratory infections in pediatric practice: the effectiveness of the use of inosine pranobex

Zdorovʹe Rebenka, 2018
The review of literature presents current data on terminology and causes of recurrent respiratory infections in children, the immunological basis for the recurrence of respiratory tract infections in childhood.
T.P. Borysova, L.P. Badogina, Т.В. Fedko   +2 more
doaj   +1 more source

Bilateral Hydronephrosis with Recurrent Infections

Paediatrica Indonesiana, 2017
A case of bilateral hydronephrosis due to a congenital hereditary anomaly was reported. The operation was performed to remove the right kidney and ureter. Correction of the obstruction in the left ureter resulted in the better functioning of the left kidney, although we cannot be sure in the long run.
I G, Wila Wirja, , Hariarti
openaire   +3 more sources

MITF maintains genome stability in nonmelanocyte lineages

Molecular Oncology, EarlyView.
MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir, Adrián López García de Lomana, Thejus B. Venkatesh, Kritika Kirty, Snaevar Sigurdsson, Linda Vidarsdottir, Ramile Dilshat, Erla Sveinbjornsdottir, Snaedis Ragnarsdottir, Daniel H Magnusson, Maria R. Bustos, Eirikur Steingrimsson, Thorkell Gudjonsson, Stefan Sigurdsson   +13 more
wiley   +1 more source