Results 61 to 70 of about 6,918,895 (258)

Exercise Capacity, Physical Activity, Fatigue, and Neurocognitive Function in Adult Survivors of Childhood Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Adult survivors of childhood acute lymphoblastic leukemia (ALL) are at risk of reduced exercise capacity, decreased physical activity levels, persistent fatigue, and neurocognitive deficits. The aim was to investigate exercise capacity and physical activity levels of adult survivors of childhood ALL and their associations with ...
Laura Jess, Gustaf Glavå, Simon Skau, Hans‐Georg Kuhn, Maria Bäck, Marianne Jarfelt   +5 more
wiley   +1 more source

Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

eLife, 2017
Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that
Gillian Morven Belbin, Jacqueline Odgis, Elena P Sorokin, Muh-Ching Yee, Sumita Kohli, Benjamin S Glicksberg, Christopher R Gignoux, Genevieve L Wojcik, Tielman Van Vleck, Janina M Jeff, Michael Linderman, Claudia Schurmann, Douglas Ruderfer, Xiaoqiang Cai, Amanda Merkelson, Anne E Justice, Kristin L Young, Misa Graff, Kari E North, Ulrike Peters, Regina James, Lucia Hindorff, Ruth Kornreich, Lisa Edelmann, Omri Gottesman, Eli EA Stahl, Judy H Cho, Ruth JF Loos, Erwin P Bottinger, Girish N Nadkarni, Noura S Abul-Husn, Eimear E Kenny   +31 more
doaj   +1 more source

Clinical genetics: Medical genetics [PDF]

European Journal of Human Genetics, 2006
In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
openaire   +1 more source

“We Cannot Talk as a Family”: Complexities of Survivorship Communication Among Hispanic/Latino Young Adult Survivors of Childhood Cancer, Parents, and Clinicians

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Young adult childhood cancer survivors (YA‐CCS) have an increased risk of treatment‐related health complications throughout their lives. Lifelong survivorship care is recommended, yet many YA‐CCS experience disruptions in care during pediatric‐to‐adult transitions and do not receive recommended survivorship care.
Kevin Shanchen Pu, Nicole Fernández‐Viña, Briana C. Martin‐Villa, Daniela Ramirez, Rebecca M. Lewinsohn, Mary Smith, Heidi Boynton, Lidia Schapira, Stephanie M. Smith   +8 more
wiley   +1 more source

Population medical genetics: translating science to the community [PDF]

, 2019
Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients.
Vanusa Dresch, Riegel, Mariluce, Alice Tagliani-Ribeiro, Lavínia Schuler-Faccini, Acosta, Angelina Xavier, Sandra Leistner-Segal, Bochernitsan, Aline Nemetz, Kubaski, Francyne, Ana Carolina Brusius-Facchin, Tatiana Amorim, Santos, Augusto César Cardoso dos, Ribeiro, Alice Tagliani, Bender, Fernanda, Rowena Couto, Roberto Giugliani, Francyne Kubaski, Jardim, Laura Bannach, Heck, Selia Maria, Fernanda Bender, Aline Bochernitsan, Marcelo Zagonel de Oliveira, Dresch, Vanusa, Amorim, Tatiana, Laura Bannach Jardim, Couto, Rowena Rubim Silva do, Burin, Maira Graeff, Faccini, Lavinia Schuler, Antônio Purificação, Mariluce Riegel, Oliveira, Marcelo Zagonel de, Facchin, Ana Carolina Brusius, Maira Burin, Angelina Xavier Acosta, Pereira, Maria Luiza Saraiva, Rodrigues, Graziella Ramos, Maria Luiza Saraiva-Pereira, Giugliani, Roberto, Selia Heck, Purificação, Antônio Conceição da, Leistner-Segal, Sandra, Matte, Ursula da Silveira, Ursula Matte, Augusto César Cardoso-dos-Santos, Graziella Rodrigues   +43 more
core   +1 more source

History of medical genetics in South Africa

Journal of the Colleges of Medicine of South Africa
No abstract available.
Jennifer G. Kromberg, Grietje de Jong
doaj   +1 more source

Identifying Patterns of Hospitalizations Among Childhood Cancer Survivors: A Population‐Based Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood cancer survivors (CCSs) experience more hospitalizations than the general population. We aimed to identify distinct hospitalization patterns among Queensland CCSs and the associated characteristics. Methods Cases (aged ≤14 years) diagnosed between 1995 and 2019 while residents of Queensland were identified through the ...
Hai Pham, Teyl Engstrom, Peter Baade, Natalie Bradford, Sarah Pont, Louise Marquart‐Wilson, Natasha Nassar, Jason D. Pole   +7 more
wiley   +1 more source

Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders

Frontiers in Psychiatry
Rare neurodevelopmental genetic conditions (NGCs) present with diverse and complex phenotypic manifestations, often resulting in a range of clinical and cognitive difficulties that cut across traditional, categorically defined neurodevelopmental and ...
SJRA Chawner, LC Chetcuti, LC Chetcuti, EK Spackman, M Uljarevic   +4 more
doaj   +1 more source

Classical Complement Pathway Inhibition in a Pediatric Patient With Refractory Immune Thrombocytopenia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric refractory immune thrombocytopenia (rITP) is generally characterized by persistent thrombocytopenia and failure to achieve a sustained response to multiple standard therapies. We report a 4‐year‐old female with congenital tufting enteropathy, post‐intestinal transplant patient on immunosuppressants, who developed severe rITP ...
Sarah Hsieh, Susmita Sarangi, Caileigh Pudela, Catherine M. Broome, Tara K. Suntum   +4 more
wiley   +1 more source

NEW GENETICS, NEW IDENTITIES

, 2007
List of contributors -- Acknowledgements -- 1. Introduction: new genetic identities? / Paul Atkinson and Peter Glasner -- 2. Genetic advocacy groups, science and biovalue: creating political economies of hope / Carlos Novas -- 3.

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