Results 121 to 130 of about 297,136 (308)

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

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart, Kate Fitz‐Gibbon, Steven Roberts   +2 more
wiley   +1 more source

Primary headache disorders and neuro-ophthalmologic manifestations

Eye and Brain, 2012
Daniel P Schwartz, Matthew S RobbinsDepartment of Neurology, Montefiore Headache Center, Albert Einstein College of Medicine, Bronx, NY, USAAbstract: Headache is an extraordinarily common complaint presenting to medical practitioners in all arenas and ...
Schwartz DP, Robbins MS
doaj  

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Hallmarks of primary headache: part 4 – rare headache syndromes

The Journal of Headache and Pain
Background and aim “Other primary headaches” is a group of heterogeneous headache disorders described in Chapter 4 of the third edition of the International Classification of Headache Disorders (ICHD-III).
Gabriele Sebastianelli, Woo-Seok Ha, Roberta Messina, Li-Ling Hope Pan, Alejandro Labastida-Ramirez, Eloisa Rubio-Beltran, Doga Vuralli, William Wells-Gatnik, Sophie Merve Yener, Paolo Martelletti   +9 more
doaj   +1 more source

The prevalence and associated factors for primary headache disorders in adolescents in eastern Sudan: a community-based cross-sectional study

Frontiers in Neurology
BackgroundHeadache disorder is the second-highest cause of disability worldwide; however, data are scarce on headache among adolescents, especially in Africa.
Saeed M. Omar, Osman M. Osman, Abdullah Al-Nafeesah, Ashwaq AlEed, Jaber Alfaifi, Ishag Adam   +5 more
doaj   +1 more source

Caregiver Reports on the Needs and Experiences of Children Impacted by Parental Incarceration: Results From an Australian Survey

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children experiencing parental imprisonment are known to be among the most overlooked in our community. They often experience multiple and compounding disadvantages, with long‐term consequences, but receive no specialised assistance. Knowledge about these children and their families is lacking in Australia and is required to inform policy ...
Catherine Flynn, Lana Battaglia, Lorana Bartels, Susan Dennison, Susy Harrigan, Lee Huggins, Sofia Grage‐Moore   +6 more
wiley   +1 more source

Correction: Fremanezumab in the prevention of high-frequency episodic and chronic migraine: a 12-week, multicenter, real-life, cohort study (the FRIEND study)

The Journal of Headache and Pain, 2022
Piero Barbanti, Gabriella Egeo, Cinzia Aurilia, Florindo d’Onofrio, Maria Albanese, Ilaria Cetta, Paola Di Fiore, Maurizio Zucco, Massimo Filippi, Francesco Bono, Claudia Altamura, Stefania Proietti, Stefano Bonassi, Fabrizio Vernieri, for the FRIEND-Study Group   +14 more
doaj   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source