Results 191 to 200 of about 87,830 (283)

Disability-adjusted life years lost due to diabetes in France, Italy, Germany, Spain, and the United Kingdom: a burden of illness study

, 2015
Josep Darbà,1 Lisette Kaskens,2 Bruno Detournay,3 Werner Kern,4 Antonio Nicolucci,5 Domingo Orozco-Beltrán,6 Antonio Ramírez de Arellano71Department of Economics, University of Barcelona, Barcelona, Spain; 2Department of Health ...
Ramírez de Arellano A, Detournay B, Darbà J, Nicolucci A, Orozco-Beltrán D, Kaskens L, Kern W   +6 more
core  

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

Disability-adjusted life years, years lived with disability, and years of life lost of diseases among children and adolescents in national and subnational levels of Iran, 1990-2021: A systematic analysis for the Global Burden of Disease 2021. [PDF]

PLoS One
Gholami B, Bastan MM, Gholami S, Nejati A, Khosravi S, Malekpour MR, Rezaei N, Shahin S, Golestani A.   +8 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

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

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

Educational differences in years lived with disability due to mental and substance use disorders: a cohort study using nationwide Norwegian and Danish registries. [PDF]

BMC Public Health
Weye NO, Plana-Ripoll O, Baravelli CM, Agardh EE, van der Velde L, Kinge JM, Knudsen AKS.   +6 more
europepmc   +1 more source

Epidemiology of facial fractures: incidence, prevalence and years lived with disability estimates from the Global Burden of Disease 2017 study. [PDF]

Inj Prev, 2020
Lalloo R, Lucchesi LR, Bisignano C, Castle CD, Dingels ZV, Fox JT, Hamilton EB, Liu Z, Roberts NLS, Sylte DO, Alahdab F, Alipour V, Alsharif U, Arabloo J, Bagherzadeh M, Banach M, Bijani A, Crowe CS, Daryani A, Do HP, Doan LP, Fischer F, Gebremeskel GG, Haagsma JA, Haj-Mirzaian A, Haj-Mirzaian A, Hamidi S, Hoang CL, Irvani SSN, Kasaeian A, Khader YS, Khalilov R, Khoja AT, Kiadaliri AA, Majdan M, Manaf N, Manafi A, Massenburg BB, Mohammadian-Hafshejani A, Morrison SD, Nguyen TH, Nguyen SH, Nguyen CT, Olagunju TO, Otstavnov N, Polinder S, Rabiee N, Rabiee M, Ramezanzadeh K, Ranganathan K, Rezapour A, Safari S, Samy AM, Sanchez Riera L, Shaikh MA, Tran BX, Vahedi P, Vahedian-Azimi A, Zhang ZJ, Pigott DM, Hay SI, Mokdad AH, James SL.   +62 more
europepmc   +1 more source

Frailty – Prediction of disability in activities of daily living and instrumental activities of daily living in a two year follow-up

, 2015
Frailty is a state of increased vulnerability, which entails a high risk of impairment and disability. There is currently no consensus regarding the characterization of frailty, but in a more current perspective, developed by Gobbens, frailty is defined as a dynamic state that affects the individual who experiences loss in one or more domains (physical,
Domingues, Bruno, Pinho, Joana, Coelho, Tiago   +2 more
openaire   +1 more source

Global low back pain prevalence and years lived with disability from 1990 to 2017: estimates from the Global Burden of Disease Study 2017. [PDF]

Ann Transl Med, 2020
Wu A, March L, Zheng X, Huang J, Wang X, Zhao J, Blyth FM, Smith E, Buchbinder R, Hoy D.   +9 more
europepmc   +1 more source