Results 81 to 90 of about 244,398 (299)

Cryptic mosaicism involving a second chromosome X in patients with Turner syndrome [PDF]

, 2008
The high abortion rate of 45,X embryos indicates that patients with Turner syndrome and 45,X karyotype could be mosaics, in at least one phase of embryo development or cellular lineage, due to the need for the other sex chromosome presence for conceptus ...
ARAÚJO, A., RAMOS, E.S.
core   +2 more sources

Lessons Learned From a Delayed‐Start Trial of Modafinil for Freezing of Gait in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Freezing of gait (FOG) in people with Parkinson's disease (PwPD) is debilitating and has limited treatments. Modafinil modulates beta/gamma band activity in the pedunculopontine nucleus (PPN), like PPN deep brain stimulation. We therefore tested the hypothesis that Modafinil would improve FOG in PwPD.
Tuhin Virmani, Lakshmi Pillai, Reid D. Landes, Aliyah Glover, Shannon Doerhoff, Jennifer Kleiner, Mitesh Lotia, Rohit Dhall, Edgar Garcia‐Rill   +8 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Acute military psychiatric casualties from the war in Iraq [PDF]

, 2005
Background: The view that most military personnel evacuated from war zones are suffering from combat stress reactions, or are otherwise traumatised by the horrors of war, has an impact on all aspects of military psychiatry.
Andrew G. McKechanie, Belenky, Frank B. McManus, Jones, Leigh A. Neal, Mark A. Turner, Mathew D. Kiernan, Noy, Peter J. C. Finch, Solomon, Solomon   +10 more
core   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

Turner Syndrome; A Case Report With Growth Failure

Endocrinology Research and Practice, 2022
Turner syndrome which afflicts approximately 50 per 100000 females is characterized by retarded growth, gonadal dysgenesis, and infertility. Growth failure is a consistent finding at birth in infants with Turner's syndrome.
Betül Ersoy, Şenol Coşkun, Erhun Kasırga, Ali Onağ   +3 more
doaj   +2 more sources

Keratoconus and Turner??s Syndrome

Cornea, 1997
To report the association of keratoconus and Turner's syndrome in three patients and to review the ophthalmic manifestations of Turner's syndrome.Three patients with keratoconus and Turner's syndrome were identified and reported in a retrospective review.These three cases represent the first series of patients with keratoconus and Turner's syndrome ...
M. Macsai, E. Maguen, P. Nucci
openaire   +3 more sources

Unusual evolution of a non-hacek Gram-negative endocarditis in a patient with Turner syndrome [PDF]

, 2017
Non-HACEK Gram-negative endocarditis is a rare but severe illness, and the diagnosis can be difficult to establish. Here, we report the case of a 72-year-old woman with Turner syndrome suffering from non-typhoid Salmonella endocarditis of the triscupid ...
Bech, Carine, Huttner, Benedikt, Patterson, Judith Archambault, Perrenoud, Jean-Jacques   +3 more
core  

Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]

, 2016
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann, Jacobs, Myrthe, McGowan, Ruth, Nelson, Scott, Pell, Jill P.   +4 more
core   +1 more source

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +1 more source