Results 31 to 40 of about 1,395,753 (295)

Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnostics [PDF]

Childhood Kidney Diseases
With the rapid evolution of diagnostic tools, particularly next-generation sequencing, the identification of genetic diseases, predominantly those with pediatric-onset, has significantly advanced. However, this progress presents challenges that span from
Soo Yeon Kim
doaj   +1 more source

Personalizing the Pediatric Hematology/Oncology Fellowship: Adapting Training for the Next Generation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT The pediatric hematology‐oncology fellowship training curriculum has not substantially changed since its inception. The first year of training is clinically focused, and the second and third years are devoted to scholarship. However, this current structure leaves many fellows less competitive in the current job market, resulting in ...
Scott C. Borinstein, Melissa J. Rose, Scott Moerdler, Richard Ho   +3 more
wiley   +1 more source

Chemical Genetics and Orphan Genetic Diseases [PDF]

Chemistry & Biology, 2005
Many orphan diseases have been identified that individually affect small numbers of patients but cumulatively affect approximately 6%-10% of the European and United States populations. Human genetics has become increasingly effective at identifying genetic defects underlying such orphan genetic diseases, but little progress has been made toward ...
Lunn, Mitchell R., Stockwell, Brent R.
openaire   +2 more sources

Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care.
Daniël Zwerus, Floortje Strobbe, Annemarie A. Verrijn Stuart, Hanneke M. van Santen, Gerlof D. Valk, Sasja A. Schepers, Rachel S. van Leeuwaarde   +6 more
wiley   +1 more source

Association of ABCC8 and KCNJ11 gene variants with type 1 diabetes in south Indians

Egyptian Journal of Medical Human Genetics, 2021
Background Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel and regulates the secretion of ...
Shilpa Reddy, Sailaja Maddhuri, Pratibha Nallari, Venkateshwari Ananthapur, Srinivas Kalyani, Murali Krishna, Nirmala Cherkuri, Sireesha Patibandala   +7 more
doaj   +1 more source

Nutritional and Behavioral Intervention for Long‐Term Childhood Acute Leukemia Survivors With Metabolic Syndrome

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Metabolic syndrome (MetS) is a common complication in survivors of childhood acute lymphoblastic and myeloid leukemia (AL), and a major risk factor for premature cardiovascular disease, type‐2‐diabetes, and metabolic dysfunction‐associated steatotic liver disease (MASLD).
Visentin Sandrine, Béliard Sophie, Renard Cécile, Caussy Cyrielle, Hamidou Zeinab, Romano David, Gacem Mélanie, Petit Arnaud, Saultier Paul, Borentain Patrick, Michel Gérard   +10 more
wiley   +1 more source

Development of a biobank in the structure of scientific and diagnostic and treatment institutions and prospects for interregional integration

Кардиоваскулярная терапия и профилактика, 2022
The formation of biobanks in the structure of scientific and treatment and diagnostic institutions with prospects for interregional integration is a fundamental link in monitoring and predicting diseases of various origins, creating and testing highly ...
R. S. Kalinin, O. V. Goleva, R. A. Illarionov, V. V. Tsai, A. L. Mukomolova, Yu. E. Konstantinova, I. V. Markin, A. V. Krylov, N. V. Rogozina, M. K. Bekhtereva, M. S. Tyan, E. D. Orlova, M. Yu. Donnikov, L. V. Kovalenko, L. N. Kolbasin, A. S. Glotov, O. S. Glotov   +16 more
doaj   +1 more source

Survival for Children Diagnosed With Wilms Tumour (2012–2022) Registered in the UK and Ireland Improving Population Outcomes for Renal Tumours of Childhood (IMPORT) Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The Improving Population Outcomes for Renal Tumours of childhood (IMPORT) is a prospective clinical observational study capturing detailed demographic and outcome data on children and young people diagnosed with renal tumours in the United Kingdom and the Republic of Ireland.
Naomi Ssenyonga, Angela Lopez‐Cortes, Reem Al‐Saadi, Suzanne Tugnait, Kristina Dzhuma, Catriona Duncan, Gordan Vujanic, Tanzina Chowdhury, Claudia Allemani, Michel P. Coleman, Kathy Pritchard‐Jones, the Children's Cancer and Leukaemia Group (CCLG) Renal Tumour Special Interest Group, Hugh Bishop, Anthony McCarthy, Pamela Kearns, Helen Rees, Amos Burke, Meriel Jenney, Jane Pears, Hamish Wallace, Milind Ronghe, Tanzina Chowdhury, Susan Picton, Emma Ross, Lisa Howell, Bernadette Brennan, Gail Halliday, Richard Grundy, Shaun Wilson, Sucheta Vaidya, Daniel Yeomanson, Jessica Bate, Vesna Pavasovic, Jessica Bate, Sabine Irtan, Jesper Brok, Minou Oostveen, Kristina Dzhuma, Mark Weeks, Richard Williams, Mark Powis, Max Pachl, Bruce Okoye, Naima Smeulders, Gordan Vujanic, Oystein Olsen, Tom Watson, Susan Shelmerdine, Dan Saunders, Angela Lopez-Cortes, Taryn Treger, Tom Jackson, Suzanne Tugnait, Lisa Howell, Tanzina Chowdhury, Sam Behjati, Angela Polanco   +56 more
wiley   +1 more source

The MedSupport Multilevel Intervention to Enhance Support for Pediatric Medication Adherence: Development and Feasibility Testing

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction We developed MedSupport, a multilevel medication adherence intervention designed to address root barriers to medication adherence. This study sought to explore the feasibility and acceptability of the MedSupport intervention strategies to support a future full‐scale randomized controlled trial.
Elizabeth G. Bouchard, Hital Patel, Paula C. Vincent, Justine Kahn, Kira Bona, Thai Hoa Tran, Elisa M. Rodriguez, Kristopher Attwood, Kara M. Kelly   +8 more
wiley   +1 more source

Integrated multi-omics mapping of mitochondrial dysfunction and substrate preference in Barth syndrome cardiac tissue

EMBO Molecular Medicine
Barth syndrome (BTHS) is a rare X-linked recessively inherited disorder caused by variants in the TAFAZZIN gene, leading to impaired conversion of monolysocardiolipin (MLCL) into mature cardiolipin (CL).
Bauke V Schomakers, Adriana S Passadouro, Maria M Trętowicz, Pelle J Simpson, Yorrick R J Jaspers, Michel van Weeghel, Iman Man Hu, Cathelijne M E Lamboo, Denise Cloutier, Barry J Byrne, Jan Bert van Klinken, Paul M L Janssen, Sander R Piersma, Connie R Jimenez, Frédéric M Vaz, Gajja S Salomons, Jolanda van der Velden, Riekelt H Houtkooper, Signe Mosegaard   +18 more
doaj   +1 more source