Results 51 to 60 of about 1,421,602 (199)

A National Survey of Paediatric Turner Syndrome Services in the United Kingdom: Current Practice and Variability in Care [PDF]

Background: Turner syndrome (TS) is a complex genetic condition requiring lifelong, multidisciplinary care. International consensus guidelines exist, but the organisation of paediatric TS services in the UK has not been systematically explored.Methods: A
Katugampola, H., Idkowiak, Jan, Krone, N.P., Amin, N., Idkowiak, J., Amin, Nadia, Ferguson, Elspeth C., Howard, S.R., Katugampola, Harshini, Howard, Sasha R., Krone, Nils P., Ferguson, E.C., Law, J.M., Law, James M.   +13 more
core   +1 more source

Turner Syndrome with Isochromosome Xq

, 2020
Short stature and growth retardation in girls commonly occur in patients with Turner syndrome. We present a 19-year-old-girl with primary amenorrhea and growth retardation, who has a mosaic karyotype, 46X,i(Xq)[17]/45,X[8].
Erdal, Gulbahar Guzel, Balkan, Mahmut
core   +1 more source

Reduced effects of social feedback on learning in Turner syndrome

Scientific Reports, 2023
Turner syndrome is a genetic condition caused by a complete or partial loss of one of the X chromosomes. Previous studies indicate that Turner syndrome is associated with challenges in social skills, but the underlying mechanisms remain largely ...
Hanna Björlin Avdic, Claes Strannegård, Hedvig Engberg, Charlotte Willfors, Ida Nordgren, Louise Frisén, Angelica Lindén Hirschberg, Mona Guath, Ann Nordgren, Johan Lundin Kleberg   +9 more
doaj   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Turner Notice of Adopted Amendment (2012-01-03)

, 2012
8 pp. Adopted 2012-01-03. Department of Land Conservation and Development Notice of Adopted AmendmentThe Turner City Council adopted Ordinance No.: 11-102 to amend the Turner Comprehensive Plan.
Turner (Or.)
core   +1 more source

Why Turner patients with 45, X monosomy should not be excluded from fertility preservation services

Reproductive Biology and Endocrinology, 2022
In this case report, we highlight the practical dilemma, i.e. to perform ovarian tissue cryopreservation surgery in a 45, X Turner Syndrome patient or not, by reporting on the presence of follicles in a 13-year-old female diagnosed with 45, X monosomy ...
MJ Schleedoorn, K Fleischer, DDM Braat, AJM Oerlemans, AAEM van der Velden, R Peek   +5 more
doaj   +1 more source

Neurovascular Contacts in the Pathophysiology of Neuralgic Amyotrophy: An Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuralgic amyotrophy (NA) is a prevalent, monophasic, multifocal immune‐mediated neuropathy. A distinctive characteristic of the disease is the occurrence of nerve or fascicle constrictions and torsions (NA‐associated focal nerve lesions, NAFL). The pathophysiology underlying this phenomenon remains to be fully elucidated.
Johannes Fabian Holle, Andreas Leha, Volker Limmroth, Wolfram Windisch, Maximilian Zimmermann   +4 more
wiley   +1 more source

Dentofacial morphology in Turner Syndrome karyotypes [PDF]

, 2012
The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype.
Rizell, Sara
core   +1 more source

Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran, Malo Gaubert, Alice Dufey, Elise Bannier, Audrey Rico, Jean‐Christophe Ferré, Raphaël Chouteau, Laure Michel, Emmanuelle Le Page, Virginie Callot, Bertrand Audoin, Sarah Demortière, Benoît Combès, Anne Kerbrat   +13 more
wiley   +1 more source