Results 51 to 60 of about 320,566 (299)

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Comorbidity of Asperger syndrome and gender identity disorder [PDF]

, 2018
The case of a 35-yearold biological woman with Asperger syndrome (AS) and gender identity disorder (GID) fulfilling DSM-IV criteria is reported. Against the background of recently emerging theories of cognitive male pattern underlying autism we present ...
Delsignore, Aba, Gundelfinger, Ronnie, Hepp, Urs, Kraemer, Bernd, Schnyder, Ulrich   +4 more
core  

The association of metacognitive beliefs with emotional distress after diagnosis of cancer. [PDF]

, 2015
Objective: Emotional distress after a diagnosis of cancer is normal and, for most people, will diminish over time. However, a significant minority of patients with cancer experience persistent or recurrent symptoms of emotional distress for which they ...
Cook, Sharon, Cornford, Philip, Dunn, Graham, Fisher, Peter, Holcombe, Chris, Salmon, Peter   +5 more
core   +2 more sources

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick, Cheick O. Soumah, Malé Doré, Oumar Mara, Desiré Neldje, Fodé A. Cissé, Toure M. Lamine, Aminata Diallo, Seungwon Lee, Siddharth Satish, Alexander J. X. Chen, Alice Liu, Nomin Enkhtsetseg, Farrah J. Mateen, The Guinea Epilepsy Project   +14 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

Age and gender identity in a perpetrators of sexual violence against children

Психология и право, 2016
The paper devoted to the age and gender identity among the perpetrators of sexual violence against children and discussed the factors lead to pathogenesis of abnormal sexual behavior against children.
Dvoryanchikov N.V., Makarova T.E.
doaj   +1 more source

Stigma in youth with Tourette's syndrome: a systematic review and synthesis [PDF]

, 2015
Tourette's syndrome (TS) is a childhood onset neurodevelopmental disorder, characterised by tics. To our knowledge, no systematic reviews exist which focus on examining the body of literature on stigma in association with children and adolescents with TS.
Forrester-Jones, Rachel, Malli, M., Murphy, Glynis H.   +2 more
core   +1 more source

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Gender dysphoria: A critical discussion of the understanding and treatment of gender dysphoria

Dialogues in Clinical Neuroscience & Mental Health, 2019
In DSM-5, the American Psychiatry Association changed the diagnosis of gender identity disorder by adopting the term of gender dysphoria (GD). The development of gender identity is a complex and probably multi-factorial procedure relating to genetic ...
Vasiliki Apeiranthitou, George Thomas, Penelope Louka   +2 more
doaj   +1 more source