Results 51 to 60 of about 10,831,444 (295)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source
Myotonic dystrophy: genetics and clinical polymorphism
Анналы клинической и экспериментальной неврологии, 2019 Myotonic dystrophy is the most common form of hereditary progressive muscular dystrophy in adults. The disorder is characterized by progressive course, autosomal dominant inheritance and multisystem involvement (skeletal muscles, myocardium, endocrine ...
Ekaterina O. Ivanova +4 more
doaj +1 more source
Estimating the number of diseases – the concept of rare, ultra-rare, and hyper-rare
iScience, 2022 Summary: At the dawn of the personalized medicine era, the number of rare diseases has been estimated at 10,000. By considering the influence of environmental factors together with genetic variations and our improved diagnostic capabilities, an ...
C. I. Edvard Smith +2 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Purpose Chemoimmunotherapy with irinotecan, temozolomide, and dinutuximab (I/T/DIN) has emerged as first‐line therapy for relapsed/refractory (r/r) high‐risk neuroblastoma (HRNB) in North America. Topotecan and cyclophosphamide (T/C) are often used in combination with dinutuximab in the setting of lack of response, progression, or incomplete ...
Benjamin J. Lerman +17 more
wiley +1 more source
Ethical Issues in Contemporary Clinical Genetics
Mayo Clinic Proceedings: Innovations, Quality & Outcomes, 2018 As genetic sequencing capabilities become more powerful and costs decline, the reach of genomics is expanding beyond research laboratories to the wards, outpatient clinics, and, with the marketing of direct-to-consumer testing services, patients’ homes ...
Genna Braverman, MD +2 more
doaj +1 more source
Frontiers in Genetics, 2022 Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza +11 more
doaj +1 more source
Bioinformatics and Computational Tools for Next-Generation Sequencing Analysis in Clinical Genetics
Journal of Clinical Medicine, 2020 Clinical genetics has an important role in the healthcare system to provide a definitive diagnosis for many rare syndromes. It also can have an influence over genetics prevention, disease prognosis and assisting the selection of the best options of care ...
R. Pereira, J. Oliveira, M. Sousa
semanticscholar +1 more source
Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors
Pediatric Blood &Cancer, EarlyView.ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy +5 more
wiley +1 more source
Clinical Genetics in Interstitial Lung Disease
Frontiers in Medicine, 2018 Interstitial lung disease (ILD) comprises a heterogeneous group of diffuse parenchymal lung processes with overlapping clinical, radiographic, and histopathologic features. Among the most common and deadly ILDs are idiopathic pulmonary fibrosis (IPF) and
Chad A. Newton +4 more
doaj +1 more source
Nature CommunicationsThyroid dysfunction is involved in many diseases. Here, the authors provide insights into the genetics and biological pathways influencing important thyroid function parameters, showing potential causal effects on many clinical outcomes.
Rosalie B. T. M. Sterenborg +142 more
semanticscholar +1 more source