Results 71 to 80 of about 390,500 (268)

Germline variants in patients diagnosed with pediatric soft tissue sarcoma

Acta Oncologica
Background: While soft tissue sarcomas affect younger patients, few studies have assessed the distribution of underlying pathogenic germline variants. Patients and methods: We retrospectively identified all pediatric and young adult patients (0–22 years)
Synnøve Yndestad, Hans Kristian Haugland, Dorota Goplen, Dorota Wojcik, Stian Knappskog, Per Eystein Lønning   +5 more
doaj   +1 more source

Acute and dramatic saxophone penis

Indian Dermatology Online Journal, 2015
We present a case of intense genital swelling because of a hereditary angioedema. This rare disease should be included in the differential diagnosis of acute and asymptomatic genital edema, because it may prevent future potentially life-threatening ...
Carlota Gutiérrez García-Rodrigo, Lidia Maroñas-Jimenéz, Diana Menis, Hugo Larráin, Lara Angulo Martínez   +4 more
doaj   +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

Noise-induced tinnitus: A comparison between four clinical groups without apparent hearing loss

Noise and Health, 2011
The number of people with normal hearing thresholds seeking medical help for tinnitus and other hearing problems is increasing. For diagnostic purposes, existence/nonexistence of lesions or combinations of lesions in the inner ear not reflected in the ...
Ann-Cathrine Lindblad, Björn Hagerman, Ulf Rosenhall   +2 more
doaj   +1 more source

The Hereditary Ataxias [PDF]

Journal of Neuropathology & Experimental Neurology, 1998
Efforts to classify the hereditary ataxias by their clinical and neuropathological phenotypes are troubled by excessive heterogeneity. Linkage analysis opened the door to a new approach with the methods of molecular biology. The classic form of autosomal recessive ataxia, Friedreich's ataxia (FA), is now known to be due to an intronic expansion of a ...
openaire   +2 more sources

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

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

Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

Annals of the Child Neurology Society
Background Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene.
Lekshmi Peringassery Sateesh, Pavani Chitamanni, Danielle Akinsanmi, Suman Ghosh, Steven G. Pavlakis, Alexandra Reznikov   +5 more
doaj   +1 more source

Multiparametric 3T MRI evaluation of hereditary spastic paraplegia: A case report

Indian Journal of Radiology and Imaging, 2016
Hereditary spastic paraplegia (HSP) is a rare heterogeneous group of familial neurodegenerative disorders characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord.
Sonam Priya, Naznin Siddique, Ruchira Das, Archana Singh   +3 more
doaj   +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