Results 91 to 100 of about 90,086 (258)

B/ordering and healthcare access for migrants with precarious status: The role of healthcare workers in counteracting restrictive policies

American Journal of Community Psychology, EarlyView.
Abstract In Canada, precarious migration is largely invisibilized. Nonetheless, b/ordering greatly affects people's realities by limiting access to social rights. In Quebec, migrants with precarious status (MPS) do not have access to healthcare, although Quebec has a “universal” healthcare coverage.
Émilie Pigeon‐Gagné, Jill Hanley, Élise Bourgeois‐Guérin, Pénélope Boudreault   +3 more
wiley   +1 more source

Caregiver burden profiles and associated factors among informal caregivers of children and adolescents with type 1 diabetes: a cross-sectional study

BMJ Open
Objectives To identify caregiver burden profiles among informal caregivers of children and adolescents with type 1 diabetes and explore associated factors.Design A multicentre cross-sectional survey was conducted.Setting and participants The study was ...
Liying Zhang, Yun Chen, Jia Guo, Yang Jundi, Ruiling Lei, Amina Wusiman, Sheng Jiang   +6 more
doaj   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +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

Caregivers' burden and its influencing factors among parents of children with asthma and comorbidities: a cross-sectional study

Frontiers in Public Health
ObjectiveThis study aims to investigate the current status of caregiver burden among parents of children with asthma comorbidities and to identify its associated factors.MethodsWe conducted a cross-sectional study from May to July 2025, involving 325 ...
Xin Yi, Kejimu Sunzi, Jie Liu, Fang Yang, Xia Wu, Dan Bi, Qin Huang, Lifei Dai   +7 more
doaj   +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

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

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

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

Prevalence of and Risk Factors for Caregiver Burden in Palliative Care in Thailand

Biomedical Sciences and Clinical Medicine
Objective Caregivers are highly important in both conventional and palliative care. Their responsibilities, which include biological, psychological, and social aspects, can lead to stress and other complications.
Chanaphon Ratanasaard, Nida Buawangpong, Kanokporn Pinyopornpanish, Nisachol Dejkriengkraikul, Lalita Chutarattanakul, Thawalrat Ratanasiri, Alicha Chumintrachark   +6 more
doaj   +1 more source