Results 21 to 30 of about 134,584 (262)

Enzymatic insights into an inherited genetic disorder

eLife, 2017
Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Liping Zhang, Kelly G Ten Hagen
doaj   +1 more source

HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?

Journal of the Dow University of Health Sciences, 2008
Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz
doaj   +4 more sources

Diagnosis of Brugada Syndrome, a Rare Inherited Arrhythmogenic Disorder

Dubai Medical Journal, 2020
Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death.
Juwairiya Syed Iqbaluddin, Fathima Murthuza, Sumaiya Iqbal   +2 more
doaj   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh

Orphanet Journal of Rare Diseases, 2023
Background Inherited blood disorders affect 7% of the population worldwide, with higher prevalences in countries in the “thalassemia belt,” which includes Bangladesh.
Amanda S. Wendt, Joaquin Brintrup, Jillian L. Waid, Abdul Kader, Nathalie J. Lambrecht, Sabine Gabrysch   +5 more
doaj   +1 more source

Bridging the Loneliness Gap: Depression, Connectivity, and Isolation in Pediatric Oncology Patients and Their Peers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Loneliness is associated with adverse physical and mental health outcomes and remains understudied in children and adolescents undergoing cancer therapy. Pediatric oncology patients may be at increased risk due to medical isolation and disruption of social networks.
Charlotte N. Stahlfeld, Scott H. Maurer, Michelle D. Watkinson, John Nury, Elise Barberis, Molly C. Mack   +5 more
wiley   +1 more source

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

Haematologica, 2017
Excessive bleeding at surgery is a feared complication in patients with inherited platelet disorders. However, very few studies have evaluated the frequency of surgical bleeding in these hemorrhagic disorders.
Sara Orsini, Patrizia Noris, Loredana Bury, Paula G. Heller, Cristina Santoro, Rezan A. Kadir, Nora C. Butta, Emanuela Falcinelli, Ana Rosa Cid, Fabrizio Fabris, Marc Fouassier, Koji Miyazaki, Maria Luisa Lozano, Pamela Zúñiga, Claire Flaujac, Gian Marco Podda, Nuria Bermejo, Remi Favier, Yvonne Henskens, Emmanuel De Maistre, Erica De Candia, Andrew D. Mumford, Gul Nihal Ozdemir, Ibrahim Eker, Paquita Nurden, Sophie Bayart, Michele P. Lambert, James Bussel, Barbara Zieger, Alberto Tosetto, Federica Melazzini, Ana C. Glembotsky, Alessandro Pecci, Marco Cattaneo, Nicole Schlegel, Paolo Gresele   +35 more
doaj   +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

The utility of flow cytometric platelet forward scatter as an alternative to mean platelet volume

Platelets, 2022
The use of mean platelet diameter (MPD) to classify inherited thrombocytopenia (IT) has been demonstrated in several studies. Alternatively, the mean platelet volume (MPV) may be used, but in macrothrombocytopenia this may not be available.
David Connor, David Rabbolini, Marie-Christine Morel-Kopp, Kate Fixter, Dea Donikian, Mayuku Kondo, Onki Chan, Susan Jarvis, Walter Chen, Timothy Brighton, Vivien Chen, Christopher Ward, Joanne Joseph   +12 more
doaj   +1 more source

Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review

International Journal of Neonatal Screening, 2021
Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]
Stephan Lobitz, Joachim B. Kunz, Holger Cario, Dani Hakimeh, Andrea Jarisch, Andreas E. Kulozik, Lena Oevermann, Regine Grosse   +7 more
doaj   +1 more source