Results 171 to 180 of about 613,493 (265)

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Measuring Child Disadvantage: Comparing Multidimensional and Socioeconomic Approaches for Predicting Developmental Outcomes

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong   +7 more
wiley   +1 more source

Emotion regulation and depressive symptoms mediate the association between chronotype and suicidality. [PDF]

open access: yesActa Neuropsychiatr
Choo E   +8 more
europepmc   +1 more source

Emotional Burden of Olfactory Dysfunction: A Psychological Cluster Analysis from a Tertiary Smell and Taste Clinic

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
Key Points The emotional burden of olfactory dysfunction bears distinct psychological profiles. Objective olfactory dysfunction findings do not reliably reflect patients' emotional burden. Olfactory‐related quality of life assessment may identify patient risk of emotional distress.
Tom Fischer   +8 more
wiley   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva   +18 more
wiley   +1 more source

Ketamine for negative and depressive symptoms in schizophrenia: the evidence so far. [PDF]

open access: yesFront Psychiatry
Diendorfer CM   +9 more
europepmc   +1 more source

Identification of senescence‐related genes in Parkinson's disease reveals candidate therapeutic targets and pathological processes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
At the genomic level, a large number of differentially expressed genes (DEGs) and aging‐related DEGs have been screened. Ten hub genes, such as IFNγ and IRF7, have been identified and shown potential value in the diagnosis of PD, holding promise as novel biomarkers to facilitate early and precise diagnosis.
Haojie Wu   +3 more
wiley   +1 more source

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