Results 121 to 130 of about 178,854 (308)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Primary headache disorders susceptibility is associated with fasting-related headache: evidence from a multinational study across 14 countries

Frontiers in Neurology
BackgroundFasting-related headache has traditionally been attributed to dehydration, caffeine withdrawal, and sleep disruption, but pre-existing primary headache disorders may also play an important role in determining susceptibility.ObjectivesTo ...
M. Ceren Akgor, M. Ceren Akgor, K. Saghır, K. Saghır, A. İ. Can, F. G. Sahbaz, E. U. Özcelik, A. C. Atalar, N. Ergin, M. O. Orun, A. A. Madani, E. A. A. Ibrahim, M. Togha, M. Togha, S. Amirguliyev, Y. Alabwah, J. A. Hashel, I. M. Dardar, R. E. Sahli, S. B. Sassi, M. Nada, N. Shalaby, Y. Dehal, Y. Naji, M. Amine, K. Alfred, R. Karacı, E. Yanık, G. Gürsoy, H. T. Celik, S. Tasdelen, E. Ekizoğlu, E. K. Orhan, D. Agırcan, H. Genc, T. Gesoglu Demir, F. M. Domac, N. Köse, N. Tepe, S. Öztürk, E. K. Cengiz, K. Erdogan, İ. Yıldırım, B. R. Hasırcı Bayır, E. A. Demirel, R. Ghouri, R. Ghouri, B. Tasdelen, H. Bolay, H. Bolay, H. Bolay, A. Ozge, A. Ozge, N. Kissani, N. Kissani   +54 more
doaj   +1 more source

“It's Not Deterministic and It Will Never Be Deterministic”: A Qualitative Study on Stakeholder Perspectives of Polygenic Risk Score Testing for Post‐Traumatic Stress Disorder

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Post‐traumatic stress disorder (PTSD) causes significant mental and physical distress, yet only a small subset of individuals exposed to trauma develop the disorder. Scientists and clinicians are still unable to predict who will get the disorder or how it will manifest.
Brandy M. Fox
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Hallmarks of primary headache: part 4 – rare headache syndromes

The Journal of Headache and Pain
Background and aim “Other primary headaches” is a group of heterogeneous headache disorders described in Chapter 4 of the third edition of the International Classification of Headache Disorders (ICHD-III).
Gabriele Sebastianelli, Woo-Seok Ha, Roberta Messina, Li-Ling Hope Pan, Alejandro Labastida-Ramirez, Eloisa Rubio-Beltran, Doga Vuralli, William Wells-Gatnik, Sophie Merve Yener, Paolo Martelletti   +9 more
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Correction: Fremanezumab in the prevention of high-frequency episodic and chronic migraine: a 12-week, multicenter, real-life, cohort study (the FRIEND study)

The Journal of Headache and Pain, 2022
Piero Barbanti, Gabriella Egeo, Cinzia Aurilia, Florindo d’Onofrio, Maria Albanese, Ilaria Cetta, Paola Di Fiore, Maurizio Zucco, Massimo Filippi, Francesco Bono, Claudia Altamura, Stefania Proietti, Stefano Bonassi, Fabrizio Vernieri, for the FRIEND-Study Group   +14 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Questionnaires used to assess the quality of life of patients with migraine and other headache disorders: an integrative review [PDF]

IntroductionAccording to the World Health Organization (WHO), quality of life is an individual\u27s perception of their position in life in the context of the culture and value system in which they live and in relation to their goals, expectations ...
Silva-Néto, Raimundo Pereira, Souza, Wallyson Pablo de Oliveira, Fortes, Yasmine Maria Leódido, Soares, Adriana de Almeida   +3 more
core   +1 more source

Correction to: Fremanezumab in the prevention of high-frequency episodic and chronic migraine: a 12-week, multicenter, real-life, cohort study (the FRIEND study)

The Journal of Headache and Pain, 2022
Piero Barbanti, Gabriella Egeo, Cinzia Aurilia, Florindo d’Onofrio, Maria Albanese, Ilaria Cetta, Paola Di Fiore, Maurizio Zucco, Massimo Filippi, Francesco Bono, Claudia Altamura, Stefania Proietti, Stefano Bonassi, Fabrizio Vernieri, and for the FRIEND-Study Group   +14 more
doaj   +1 more source