Results 231 to 240 of about 539,883 (266)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Addressing the burden of violence on global mental health: contributions of Narrative Exposure Therapy across different health systems. [PDF]

Cad Saude Publica
Serpeloni F, Köbach A, Chibashimba A, Crombach A, Domen I, Arango I, Avanci JQ, Robjant K, Abreu L, Schauer M, Görtz N, Axelsson S, Ferreira VN, Assis SG.   +13 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Global mental health commentary: using innovation to create a workforce to deliver and implement culturally adapted CBT in Pakistan. [PDF]

BMJ Ment Health
Khan N, Butt MG, Awan F, Abid S, Latif M, Aslam M, Naz S, Phiri P, Zadeh Z, Farooq S, Afridi I, Ayub M, Husain N, Javed A, Irfan M, Naeem F.   +15 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Is there a mental health diagnostic crisis in primary care? Current research practices in global mental health cannot answer that question. [PDF]

Epidemiol Psychiatr Sci
Kohrt BA, Gurung D, Singh R, Rai S, Neupane M, Turner EL, Platt A, Sun S, Gautam K, Luitel NP, Jordans MJD.   +10 more
europepmc   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Search Volume of Insomnia and Suicide as Digital Footprints of Global Mental Health During the COVID-19 Pandemic: 3-Year Infodemiology Study. [PDF]

J Med Internet Res
Lin SH, Su KP, Tsou HH, Hsia PH, Lin YH.
europepmc   +1 more source

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