Results 41 to 50 of about 14,918,859 (275)

A Recessive Mutation Resulting in a Disabling Amino Acid Substitution (T194R) in the LHX3 Homeodomain Causes Combined Pituitary Hormone Deficiency [PDF]

, 2012
Background/Aims: Recessive mutations in the LHX3 homeodomain transcription factor gene are associated with developmental disorders affecting the pituitary and nervous system. We describe pediatric patients with combined pituitary hormone deficiency (CPHD)
Hiedl, Stefan, Duran-Prado, Mario, Lohse, Peter, Roeb, Julia, Rhodes, Simon J., Malik, Raleigh E., Bechtold-Dalla Pozza, Susanne, Park, Soyoung   +7 more
core   +1 more source

Case report on perioperative management of combined factor V and VIII deficiency in a patient with prolapse uterus [PDF]

, 2023
Combined factor V and factor VIII deficiency is a rare autosomal recessive disorder with incidence of one in 10,00,000. We reported a case of seventy-one-year-old patient with third degree uterovaginal prolapse, diagnosed as combined factor V and VIII ...
Sree K. P., Bhavani, Rani G., Usha, Usha Rani G., Bhavani Sree K. P.   +3 more
core   +1 more source

Thrombosis in inherited factor VII deficiency

, 2003
Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic
WULFF K, DOLCE A, AUERSWALD G, ASTERMARK J, BERNARDI, Francesco, INTERNATIONAL FACTOR VII DEFICIENCY STUDY GROUP, BATOROVA A, HERRMANN FH, MARIANI G, SCHVED JF, SCHULMAN S, INGERSLEV J, ETRO, Daniela, Batorova, A, Schved, JF, Schulman, S,, Astermark, J, Herrmann, FH, Auerswald, G, Dolce, A, Etro, D, Wulff, K, Mariani, G   +22 more
core   +1 more source

Central Nervous System Tumors Among Infants in Canada: A Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) tumors in infants are rare, pose unique clinical challenges, and lack large‐scale evidence‐based data to guide management. This study seeks to describe CNS tumors in Canadian infants and to compare their outcomes with those of older children.
Samuel Sassine, Hallie Coltin, Sylvia Cheng, Lucie Lafay‐Cousin, Vanan Issai Magimairajan, Craig Erker, Stéphanie Vairy, Lynette Bowes, Adam Fleming, Donna Johnston, Sarah McKillop, Roona Sinha, Julie Bennett, Christina Coleman, Laura Wheaton, Shayna Zelcer, Samuele Renzi, Thai Hoa Tran   +17 more
wiley   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source

Mutations in Indian patients with Factor V deficiency.

, 2014
§Novel variations.Mutations in Indian patients with Factor V deficiency.
Shrimati D. Shetty (566739), Leenam Mota (638185), Sharda Shanbhag (638186), Shehnaz Ali (638187), Kanjaksha Ghosh (487786), Manasi Vijapurkar (638184), Sona B. Nair (638183), Bipin P. Kulkarni (638182)   +7 more
core   +1 more source

Social Functioning Within the First Years After Pediatric Brain Tumor Diagnosis and the Relationship With Family Psychosocial Risk

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivors of pediatric brain tumors (PBTs) can experience long‐term social difficulties, impacting quality of life. Beyond medical and environmental factors, family psychosocial risk may play a role in social outcomes by shaping the caregiving environment and may provide intervention options.
Renske H. Houben, Marisa H. Huisman, Martha A. Grootenhuis, Femke K. Aarsen, Marita Partanen   +4 more
wiley   +1 more source

Retrospective Analysis of Donor Lymphocyte Infusions in Pediatric Patients With Mixed Chimerism After Hematopoietic Stem Cell Transplantation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Allogeneic hematopoietic stem cell transplantation (alloHSCT) is an essential therapy for several malignant and nonmalignant diseases, but relapse and graft loss remain the principal threats to its success. Routine monitoring of chimerism and minimal residual disease (MRD) enables early detection of imminent recurrence and guides ...
Carmen Junk, Sebastian Michaelis, Michaela Döring, Thomas Eichholz, Ursula Holzer, Martin Ebinger, Tim Flaadt, Rupert Handgretinger, Peter Lang, Jan Frederic Weller, Markus Mezger   +10 more
wiley   +1 more source

Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2019
Background Inherited thrombophilias are well‐established predisposing factors for venous thromboembolism, but their role in arterial thrombosis, such as arterial ischemic stroke, remains uncertain.
Thita Chiasakul, Elizabeth De Jesus, Jiayi Tong, Yong Chen, Mark Crowther, David Garcia, Chatree Chai‐Adisaksopha, Steven R. Messé, Adam Cuker   +8 more
doaj   +1 more source

Pediatric Idiopathic Multicentric Castleman Disease Is Often Severe But Responsive to Siltuximab

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Idiopathic multicentric Castleman disease (iMCD) is a potentially fatal immunologic disorder marked by widespread lymphadenopathy and inflammation. Siltuximab, an interleukin‐6 (IL‐6) inhibitor, is the only FDA‐approved treatment for adult patients with iMCD.
Bridget Austin, Sheila K. Pierson, Kelley C. Dacus, Mateo Sarmiento Bustamante, Saishravan Shyamsundar, Larissa Borys, Kayla McHugh, Abiola Irvine, Yoojin Jo, Adam Bagg, Mary Jo Lechowicz, Daisy Alapat, Amy Chadburn, Megan S. Lim, Gordan Srkalovic, Frits van Rhee, David C. Fajgenbaum, Joshua D. Brandstadter   +17 more
wiley   +1 more source