Results 61 to 70 of about 1,423,917 (266)

Huntington’s disease genetics [PDF]

NeuroRX, 2004
Huntington's disease (HD) is a dominantly transmitted neurodegenerative disorder with wide variation in onset age but with an average age at onset of 40 years. Children of HD gene carriers have a 50% chance of inheriting the disease. The characteristic symptoms of HD are involuntary choreiform movements, cognitive impairment, mood disorders, and ...
openaire   +2 more sources

Incidence and Severity of Carboplatin‐Associated Hearing Loss in Children With Cancer Assessed by the SIOP Boston 2012 Ototoxicity Criteria

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Platinum‐based chemotherapy is known to cause severe and debilitating hearing loss, but unlike cisplatin, the true incidence of carboplatin‐induced hearing loss remains unclear. We evaluated functional hearing outcomes in children receiving carboplatin to determine the incidence and severity of ototoxicity. Procedure We identified a
Aniket Chawla, Sean Carter, Andrew Wood, Sandra Staffieri, Andrew Dodgshun, David D. Eisenstat, Michael Sullivan   +6 more
wiley   +1 more source

Re‐Irradiation in Pediatric Diffuse Midline Glioma: A Multi‐Institutional Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with recurrent diffuse midline gliomas (DMGs) have limited therapeutic options at recurrence. Re‐irradiation (RT2) may be used at progression, but with uncertainty about the benefit. Methods We conducted a multi‐institutional retrospective study of children aged < 18 with DMG treated at three centers (Toronto, Canada ...
Ajay Thomas Alex, Sean P. Hassan, Helen Benghiat, Liam Herbert, Jennifer Adamski, Shivani Bailey, Claire Esler, Louise Brookes, Molly Bamber, Grace Koudou, Karen Waite, Julie Bennett, Anirban Das, Derek S. Tsang   +13 more
wiley   +1 more source

BMT4me En Español: Multisite Feasibility and Usability Testing of a Spanish‐Language mHealth Adherence Support App for Spanish‐Speaking Caregivers of Children After Hematopoietic Stem Cell Transplantation and Cancer Treatment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Medication nonadherence during the first 100 days after pediatric hematopoietic stem cell transplantation (HSCT) and during oncology treatment increases risk for complications. BMT4me is a caregiver‐facing mobile health (mHealth) application providing medication reminders, symptom tracking, and note‐taking features to support ...
Micah A. Skeens, Madeline R. Peek, Bianca Franklin, Emre Sezgin, Melissa Beauchemin   +4 more
wiley   +1 more source

Genetic diseases [PDF]

Clinical Chemistry and Laboratory Medicine (CCLM), 2021
openaire   +2 more sources

Measurable Residual Disease Monitoring During Treatment for Pediatric Acute Myeloid Leukemia in First Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survival after relapse in pediatric acute myeloid leukemia (AML) remains poor, highlighting the critical importance of identifying prognostic factors to guide optimal relapse management. Methods We investigated the prognostic impact of multiparameter flow cytometry (MFC) measurable residual disease (MRD) in 188 patients with first ...
Camilla Poulsen, Kristian Juul Sandahl, Lene Karlsson, Jonas Abrahamsson, Nira Arad‐Cohen, Daniel Cheuk, Barbara De Moerloose, Linda Fogelstrand, Jose Maria Fernandez Navarro, Bianca F. Goemans, Kirsi Jahnukainen, Gertjan Kaspers, Zhanna Kovalova, Monica Cheng Munthe‐Kaas, Ulrika Norén‐Nyström, Josefine Palle, Ramune Pasauliene, Cornelis Jan Pronk, Kadri Saks, Anne Tierens, Henrik Hasle, Kristian Løvvik Juul‐Dam   +21 more
wiley   +1 more source

T2* Magnetic Resonance Imaging Uncovers Hemosiderin Burden in Pediatric Hemophilia: A Call for Sensitive Imaging Biomarkers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hemophilic arthropathy remains the leading morbidity in hemophilia despite modern prophylaxis, and early joint damage may be missed by routine exams. This study explored T2* MRI as a noninvasive biomarker of hemosiderin deposition in pediatric hemophilia.
Jessica Garcia, Tarique Hussain, Jeanne Dillenbeck, Matthew Hammer, Annette von Drygalski, Guy Young, Ayesha Zia   +6 more
wiley   +1 more source

Genetics of neurodegenerative diseases [PDF]

Neurology Genetics, 2016
This issue contains a number of articles on neurodegenerative diseases, most of them genotypically analyzed with next-generation sequencing. Readers will find articles identifying potential mutations in new genes, articles examining different phenotypes associated with variation in the same gene, and a report showing an unusual phenotype associated ...
openaire   +2 more sources

Exploring the psychological problems of mothers having the experience of death of children with untreatable genetic disorders: A qualitative study

Journal of Education and Health Promotion
BACKGROUND: A newborn with an untreatable genetic disorder could disrupt a family and affect parents’ mental health, psycho-social interaction, and parent–child relationships.
Marzyeh Kermanian, Mahsa Khodayarian, Abbasali Dehghan Tafti, Naiire Salmani   +3 more
doaj   +1 more source

Childhood Acute Lymphoblastic Leukemia Survival in Western Kenya: Reduction in Early Deaths and Treatment Abandonment

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background An earlier study on children diagnosed with acute lymphoblastic leukemia (ALL) at Moi Teaching and Referral Hospital (MTRH) in Kenya reported a low event‐free survival (EFS), excess treatment abandonment, and high induction mortality.
Gilbert Olbara, George Bogonko, Festus Njuguna, Sandra Langat, Martha Kipngetich, Dennis Njenga, Gertjan Johannes Kaspers, Terry Allen Vik   +7 more
wiley   +1 more source