Results 31 to 40 of about 490 (214)

Heritable Thrombophilia in Venous Thromboembolism in Northern Pakistan: A Cross-Sectional Study

Advances in Hematology, 2021
Background. Venous thromboembolism (VTE) is referred to as formation of clots in a deep vein or lodging of thrombus towards the lungs which could be fatal yet preventable. The risk of developing VTE can be increased by various factors.
Maria Khan, Chaudhry Altaf, Hamid Saeed Malik, Muhammad Abdul Naeem, Aamna Latif   +4 more
doaj   +1 more source

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source

Intravenous Remifentanil Analgaesia for an Obstetric Patient with Type I Neurofibromatosis and a Factor V Leiden Mutation

Sultan Qaboos University Medical Journal, 2018
Type I neurofibromatosis is characterised by altered skin pigmentation and the growth of benign tumours, particularly along the peripheral nerves and central nervous system.
José L. Gálvez, Carlos L. Errando, Silvia Serrano, Marga Martín-Ayuso, José M. Valverde-Mantecón   +4 more
doaj   +1 more source

Survival After Hematopoietic Stem Cell Transplantation in Diamond–Blackfan Anemia Syndrome: The Role of Iron Overload—A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT We assessed the effect of iron overload (IO) on mortality and complications following hematopoietic stem cell transplantation (HSCT) in patients with Diamond–Blackfan anemia syndrome (DBAS) in a systematic review of individual participant data and cohort data from observational studies.
Geoffrey Z. L. Kuppens, Evangelia Kiakou, Lieke de Zwart, Maurizio Miano, Eduard J. van Beers, Marc Bierings, Marije Bartels   +6 more
wiley   +1 more source

A Situational Assessment of the Diagnostic Landscape and Organizational Readiness to Implement Next‐Generation Sequencing at Two Childhood Cancer Treatment Centers in Ghana

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Next‐generation sequencing (NGS) has emerged as a promising approach to improve diagnostic accuracy, but its feasibility in low‐ and middle‐income countries remains unknown. This study characterized the diagnostic landscape and assessed organizational readiness for NGS implementation at two childhood cancer treatment centers in Accra ...
Melissa Carvalho, Emmanuella Amoako, Nihad Salifu, Lily Gloria Tagoe, Yaw Bediako, Michelle Hermiston, Catherine Segbefia   +6 more
wiley   +1 more source

Combined factors V and VIII deficiency — the solution [PDF]

Haemophilia, 1998
Summary. Combined deficiency of coagulation factor V and factor VIII is an autosomal recessive disorder which has been observed in a number of populations around the world. However, this disease appears to be most common in the Mediterranean basin, particularly in Jews of Sephardic and Middle Eastern origin living in Israel.
C. A. Lee, C. M. Kessler, D. Varon, U. Martinowitz, M. Heim, D. GINSBURG, W. C. NICHOLS, A. ZIVELIN, R. J. KAUFMAN, U. SELIGSOHN   +9 more
openaire   +3 more sources

Referral Practices and Utilisation of Paediatric Oncology Physiotherapy Services in Ghana: A Cross‐Sectional Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Physical rehabilitation is highly recognised in improving the quality of life of cancer survivors through prehabilitation, sequelae management and palliative care, yet its integration into routine care in Ghana has not been characterised, leading to potential gaps in service access.
Dorothy Ekua Adjabu, Philip Junior Nyarko, Precious Madzimbe, Kofi Adesi Kyei, Tawagidu Mohammed, Sandra Banini   +5 more
wiley   +1 more source

Acquired factor V deficiency in an elderly hemodialysis patient: a case report and literature review

BMC Nephrology
Background Acquired factor V deficiency (AFVD) is a rare hemorrhagic disorder caused by autoantibodies against coagulation factor V. Clinical manifestations vary widely, ranging from asymptomatic cases to severe hemorrhage or even thrombosis, and ...
Ayaka Hane, Yuriko Yasuda, Yuri Matsuda, Naoki Kachi, Shunsuke Kitamura, Yosuke Shibata, Katsuhiko Morimoto   +6 more
doaj   +1 more source

Managing Parahemophilia: A Rare Coagulation Disorder - Case Report and Review

Clinical Pediatric Hematology-Oncology
A 5-month-old male child was admitted with cough and fever, during which excessive bleeding occurred from a venipuncture site. Born from a third-degree consanguineous marriage, the child was developmentally normal.
Sanghamitra Ray, Nidhi Chopra, Sumit Mehndiratta, Prashant Prabhakar, Amitabh Singh   +4 more
doaj   +1 more source

A Case of Acquired Factor V Deficiency in Patient with Bleeding

TH Open, 2020
Low frequency of rare diseases origins from missed diagnosis addressing to poor prognosis. Acquired factor V inhibitor is a very low frequent bleeding condition (prevalence: 0.09/100,000,000–0.29/1,000,000 per year).
Davide Vetri, Giovanni Lumera, Salvatore Tarascio, Salvatore Scuto, Elisa Marino, Giuliana Barcellona, Salvatore Santo Signorelli   +6 more
doaj   +1 more source