Results 61 to 70 of about 309,203 (310)

Longevity and mortality of cats attending primary care veterinary practices in England [PDF]

, 2014
Enhanced knowledge on longevity and mortality in cats should support improved breeding, husbandry, clinical care and disease prevention strategies. The VetCompass research database of primary care veterinary practice data offers an extensive resource of ...
Bessant C, Dohoo I, Elliott J, Gough A, Kirkwood BR, Lulich J, McGreevy PD, McGreevy PD, Nicholas FW, Rochlitz I, Rollin BE, VetCompass   +11 more
core   +3 more sources

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Coagulation factor XIII deficiency – Report of a newborn F13A1 Val34Leu polymorphism carrier

Journal of Pediatric and Neonatal Individualized Medicine, 2022
Coagulation factor XIII deficiency (FXIIID) is a rare inherited autosomal recessive bleeding disorder. FXIIID is the only coagulation factor deficiency that has been associated with pregnancy loss.
Georgios N. Katsaras, Dimitra Gialamprinou, Ilias Chatziioannidis, Paraskevi Karagianni, Georgios Mitsiakos   +4 more
doaj   +1 more source

Inherited disorders of bilirubin clearance [PDF]

Pediatric Research, 2015
Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of glucuronic acid to bilirubin (e.g., Gilbert syndrome, Crigler-Najjar syndrome, Lucey ...
Naureen, Memon, Barry I, Weinberger, Thomas, Hegyi, Lauren M, Aleksunes   +3 more
openaire   +2 more sources

Health‐Related Quality of Life and Symptom Severity Among Patients With PIK3CA‐Related Overgrowth Spectrum: A Mixed‐Methods Study to Understand Real‐World Experience With Alpelisib Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu, Kaitlin LaGasse, Cory D. Saucier, Kimberly Raymond, Miranda Lauher‐Charest, Lauren Crowder, Beilei Cai, Mary Lisha Paul, Denise Adams   +8 more
wiley   +1 more source

‘They Need to Hear You Say It’: Healthcare Professionals’ Perspectives on Barriers and Enablers to End‐of‐Life Discussions With Adolescents and Young Adults With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT End‐of‐life conversations with adolescents and young adults (AYAs) with cancer rarely occur without the guidance of healthcare professionals. As a part of the ‘Difficult Discussions’ study, focused on palliative care and advance care planning discussions with AYAs with cancer, we investigated the factors that healthcare professionals identify ...
Justine Lee, Holly Evans, Claire E. Wakefield, Antoinette Anazodo, Richard J. Cohn, Brittany C. McGill, Elizabeth A. Lobb, Lori Wiener, Madeleine L. Juhrmann, Ursula M. Sansom‐Daly   +9 more
wiley   +1 more source

Cholelitiasis in an adult patient with mild hereditary spherocytosis – a case report [PDF]

Archives of the Balkan Medical Union, 2018
Hereditary spherocytosis (HS) is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. The condition is dominantly inherited in 75% of people.
Bogdan SOCEA, Anca A. NICA, Alexandru C. SMARANDA, Ovidiu G. BRATU, Camelia C. DIACONU, Vlad D. B Ă LEANU, Drago ș V. DAVI Ț OIU, Mihai DIMITRIU, Alexandru C. CARÂP, Simona BOBIC, Vlad D. CONSTANTIN   +10 more
doaj   +1 more source

Association Between Joint Hypermobility Syndrome and Developmental Coordination Disorder – A Review. [PDF]

, 2012
Introduction: The term joint hypermobility syndrome (JHS) was adopted after clinicians became aware of the myriad of symptoms associated with this multisystemic condition.
Clark, Carol J., Khattab, Ahmed D.
core   +1 more source

Clinical and Biological Features of Response in Resistant Neuroblastoma to 131I‐Metaiodobenzylguanidine Radiotherapy in the Anti‐GD2 Immunotherapy Era

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman, Katherine K. Matthay, Fabienne Hollinger, Catriona Black, Ann A. Lazar, Miguel Pampaloni, Steven G. DuBois, Kieuhoa T. Vo   +7 more
wiley   +1 more source

Recurrent melena in a diagnosed case of Bernard Soulier syndrome

Journal of Community Hospital Internal Medicine Perspectives, 2021
Bernard Soulier Syndrome is a genetically inherited platelet disorder that commonly presents with symptoms of impaired blood coagulation, such as epistaxis, menorrhagia, and petechiae formation. Here we present a case of Bernard Soulier Syndrome in which
Omair Ali Khan, Sheharyar Raashid, Sohaib Asghar, Ramsha Majeed, Mahnoor Fatima Sherazi, Fakeha Nayyer, Aisha Anis, Zainab Ehsan   +7 more
doaj   +1 more source