Results 181 to 190 of about 1,310,818 (311)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Marketing awareness, professional experience, and support for e-cigarette advertising regulation among Polish legal professionals: a latent-class analysis. [PDF]

Int J Occup Med Environ Health
Zajdel K, Merecz-Sadowska A, Sadowski A, Wojtysiak P, Kaleta D.   +4 more
europepmc   +1 more source

Genome‐Wide Association Study of Symptom Change Following Cognitive Behavioral Therapy for Common Mental Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Cognitive behavioral therapy (CBT) is a well‐established, evidence‐based treatment for common mental disorders such as depression, anxiety disorders, and obsessive‐compulsive disorder (OCD). However, treatment outcomes vary widely, and a substantial proportion of patients do not achieve sufficient improvement.
Julia Bäckman, Olly Kravchenko, Matthew Halvorsen, Elles de Schipper, Ekaterina Ivanova, Viktor Kaldo, Nils Hentati Isacsson, Thorstein Olsen Eide, Kira D. Höffler, Manuel Mattheisen, Bjarne Hansen, Gerd Kvale, Kristen Hagen, Jan Haavik, David Mataix‐Cols, James J. Crowley, John Wallert, Christian Rück, Nordic OCD and Related Disorders Consortium (NORDiC), Julia Bäckman, Long‐Long Chen, James J. Crowley, Elles de Schipper, Diana Pascal, Jan Haavik, Kristen Hagen, Matthew W. Halvorsen, Bjarne Hansen, Kira D. Höffler, Fredrik Johansson, Anna K. Kähler, Elinor K. Karlsson, Gerd Kvale, Paul Lichtenstein, Kerstin Lindblad‐Toh, Manuel Mattheisen, David Mataix‐Cols, Kathleen Morrill, Christian Rück, Thorstein Olsen Eide, Nora I. Strom, John Wallert   +41 more
wiley   +1 more source

Challenges and barriers to effective COVID-19 screening at Iran's air border crossings: a qualitative study and proposed solutions. [PDF]

Global Health
Pashapour H, Ghaffari M, Nikfarjam A, Kavousi A, Karami M.   +4 more
europepmc   +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

Dentists' awareness of data security and ethical issues during the transition to artificial intelligence-driven clinical practice. [PDF]

Acta Odontol Scand
Ozbey F, Gokkurt Yilmaz BN, Yilmaz BE.
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Veterinarians' perspectives on animal welfare, legal enforcement, and forensic readiness in companion animal cruelty investigations in Thailand: A cross-sectional qualitative study. [PDF]

Vet World
Lorsirigool A, Sudjaroen Y, Kulnides N, Pumipuntu N, Roongsitthichai A, Piratae S, Intrakamhaeng M, Chaiyasak S, Saenkaew K.   +8 more
europepmc   +1 more source

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster, Ashleigh Powell, Claire Hutchinson, Richard Leibbrandt, Svetlana Bogomolova   +4 more
wiley   +1 more source