Results 51 to 60 of about 1,609,120 (298)

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Scientific Reports, 2018
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights ...
James H. R. Farmery, Mike L. Smith, NIHR BioResource - Rare Diseases, Andy G. Lynch   +3 more
doaj   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy

罕见病研究
Type Ⅰ interferonopathy is an autoinflammatory disease that affects multiple systems, with a high disability and mortality rate. It profoundly impacts the quality of life of patients and poses a considerable burden on their families and society.
Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee   +1 more
doaj   +1 more source

Adopting Quality Criteria for Websites Providing Medical Information About Rare Diseases [PDF]

, 2016
BACKGROUND: The European Union considers diseases to be rare when they affect less than 5 in 10,000 people. It is estimated that there are between 5000 and 8000 different rare diseases. Consistent with this diversity, the quality of information available
Babac, Ana, Biehl, Lisa, Frank, Martin, Gobel, Jens, Hartz, Tobias, Litzkendorf, Svenja, Luhrs, Verena, Pauer, Frederic, Schauer, Franziska, Schmidtke, Jorg, Schulenburg, Johann-Matthias Graf von der, Storf, Holger, Uckert, Frank, Wagner, Thomas O.F.   +13 more
core   +3 more sources

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

To Promote the Application of Genetic Testing Technology in the Diagnosis and Treatment of Rare Diseases in China-Establishment and Work Prospect of Medical Genome Committee

罕见病研究
With the development of medical genomics, whole genome sequencing (WGS) has been playing an increasingly important role in the diagnosis and treatment of rare diseases.
China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Medical Genome Committee   +2 more
doaj   +1 more source

Neurosyphilis presenting with papillitis [PDF]

, 2017
Syphilis is one of the oldest described infectious diseases in the world and is caused by the spirochete bacterium Treponema pallidum[1]. Although now a rare disease, incidence is increasing with the number of diagnoses of the disease rising in England ...
Cooper, Sarah, Corry, Shona, Perry, Martin Edward   +2 more
core   +4 more sources

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions

罕见病研究
Obesity is a common complication of sellar lesions. The treatment of the disease is a great challenge to the physicians. To promote effective management for hypothalamic obesity secondary to sellar lesions, our team developed this consensus based on the ...
Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases
doaj   +1 more source

Exploring ITM2A as a new potential target for brain delivery

Fluids and Barriers of the CNS, 2022
Background Integral membrane protein 2A (ITM2A) is a transmembrane protein expressed in a variety of tissues; little is known about its function, particularly in the brain.
Céline Cegarra, C. Chaves, C. Déon, T. M. Do, B. Dumas, A. Frenzel, P. Kuhn, V. Roudieres, J. C. Guillemot, D. Lesuisse   +9 more
doaj   +1 more source