Results 61 to 70 of about 6,285,374 (227)

Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

Frontiers in Pharmacology, 2022
Disease registries have been used as an interesting source of real-world data for supporting regulatory decision-making. In fact, drug studies based on registries cover pre-approval investigation, registry randomized clinical trials, and post ...
Marina Mordenti, Manila Boarini, Fabio D’Alessandro, Elena Pedrini, Manuela Locatelli, Luca Sangiorgi   +5 more
doaj   +1 more source

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain [PDF]

, 2013
Genomic disorders are often caused by recurrent copy number variations (CNVs), with nonallelic homologous recombination (NAHR) as the underlying mechanism.
BEYSEN, DIANE, Carvalho, Claudio MB, D'haene, Barbara, De Baere, Elfride, Lapunzina, Pablo, Lupski, James R, Menten, Björn, Nevado, Julian, Novikova, Yana, Sante, Tom, Verdin, Hannah   +10 more
core   +4 more sources

Hip Joint Osteochondroma: Systematic Review of the Literature and Report of Three Further Cases

Advances in Orthopedics, 2014
The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our surgical management of three paediatric patients who had femoral neck or acetabular ...
Asim M. Makhdom, Fan Jiang, Reggie C. Hamdy, Thierry E. Benaroch, Martin Lavigne, Neil Saran   +5 more
doaj   +1 more source

Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases

Frontiers in Pharmacology, 2022
Objective: Next-generation sequencing (NGS) technology, changing the diagnostic approach, has become essential in clinical settings, and its adoption by public health laboratories is now the practice.
Elena Pedrini, Antonella Negro, Eugenio Di Brino, Valentina Pecoraro, Camilla Sculco, Elisabetta Abelli, Maria Gnoli, Armando Magrelli, Luca Sangiorgi, Americo Cicchetti   +9 more
doaj   +1 more source

Lipofibromatous hamartoma of the median nerve [PDF]

, 2010
Lipofibromatous hamartoma is a rare tumour of peripheral nerves which is characterised by an excessive infiltration of the epineurium and perineurium by fibroadipose tissue.
Talal Al-Jabri, Sunil Garg, Ganapathyraman V Mani, ML Mason, J Nilsson, TA Silverman, LG Warhold, GK Frykman, PC Amadio, BZ Wong, DS Louis, FX Paletta, RJ Johnson, JA Clavijo-Alvarez, EM Marom, V Giuliano, TJ Haverbush, SA Rowland, PM Yeoman, D Nardella, M Guthikonda, VS Patil, HL Friedlander, MM Al-Qattan, P Houpt   +24 more
core   +2 more sources

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family [PDF]

, 2010
Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos   +7 more
core   +1 more source

Examining the Role of Artificial Intelligence in Assessment: A Comparative Study of ChatGPT and Educator‐Generated Multiple‐Choice Questions in a Dental Exam

European Journal of Dental Education, EarlyView.
ABSTRACT Aim To compare the item difficulty and discriminative index of multiple‐choice questions (MCQs) generated by ChatGPT with those created by dental educators, based on the performance of dental students in a real exam setting. Materials and Methods A total of 40 MCQs—20 generated by ChatGPT 4.0 and 20 by dental educators—were developed based on ...
Nezaket Ezgi Özer, Yusuf Balcı, Gaye Bölükbaşı, Betul İlhan, Pelin Güneri   +4 more
wiley   +1 more source

Dysplasia epiphysealis hemimelica: A histological comparative study with osteochondromas

Journal of Children's Orthopaedics, 2017
Purpose Dysplasia epiphysealis hemimelica (DEH) is a rare developmental disorder resulting in epiphyseal overgrowth. Based on histological appearance, it is often described as an osteochondroma or osteochondroma-like lesion, although clinical differences
J. Stevens, T. J. M. Welting, A. M. Witlox, L. W. van Rhijn, H. M. Staal   +4 more
doaj   +1 more source

Osteochondroma of the temporomandibular joint: a case report [PDF]

, 2010
Osteochondroma of the mandibular condyle has been found in the oral and maxillofacial region rarely. This paper describes a case of osteochondroma of the mandibular condyle in a 20-year-old woman, who was referred to our service with facial asymmetry ...
CAVALCANTI, Marcelo Gusmão Paraíso, CECCHETI, Marcelo Minharro, PEDRON, Irineu Gregnanin, PERRELLA, Andréia, UTUMI, Estevam Rubens, ZAMBON, Camila Eduarda   +5 more
core   +1 more source