Results 121 to 130 of about 2,905 (200)

Association of treatment decision with personality, coping strategies and impulsivity in patients with multiple sclerosis. [PDF]

Mult Scler J Exp Transl Clin
Nolte JP, Föttinger F, Krajnc N, Ponleitner M, Leutmezer F, Monschein T, Rommer PS, Schmied C, Kornek B, Zrzavy T, Zulehner G, Berger T, Bsteh G.   +12 more
europepmc   +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

A content analysis of caregiver perspectives on strengths and protective factors in youth with FASD and criminal legal system involvement. [PDF]

Health Justice
Ritter C, McLachlan K, De Wolff O, McMurtry CM, Lumley M.   +4 more
europepmc   +1 more source

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

'We gout your back': a qualitative study to co-design educational gout resources with Pacific people in Aotearoa New Zealand. [PDF]

Health Promot Int
Tu'akoi S, 'Ofanoa S, Tohi M, Pauuvale A, Heather M, Lutui H, Lamont R, Goodyear-Smith F, 'Ofanoa M.   +8 more
europepmc   +1 more source

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

The Lived Experience of Play and How It Relates to Psychological Wellbeing: An Interpretive Phenomenological Analysis (IPA) Study Amongst Undergraduate Students from Medicine, Nursing, and Allied Health Professions' Programmes in the United Kingdom. [PDF]

Nurs Res Pract
Rylance-Graham R.
europepmc   +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

The impact of Abdominal Wall Hernia (AWH) on patients' social and sexual relationships: a Qualitative Analysis. [PDF]

Hernia
Smith O, Abbas A, Mierzwinski M, Oliver-Jenkins V, Chitsabesan P, Chintapatla S.   +5 more
europepmc   +1 more source