Results 101 to 110 of about 11,881 (273)
Clinical Genetics, EarlyView.Variants in the DNM1 gene cause a progressive cone‐rod synaptic dysfunction, evidenced by the electroretinogram. This is due to retinal synaptic abnormality due to poor endocytic scission of synaptic buds at the synapse consequent on Dynamin‐1 abnormalities.
Oliver R. Marmoy +3 more
wiley +1 more source
Psychosocial effects of intraocular surgery in an Ophthalmology Unit
Revista de Ciencias Médicas de Pinar del Río, 2019 Introduction: as a result of the high incidence of low vision, as well as its negative consequences in the biological, psychological and social spheres, the authors take into account the insufficiency of interdisciplinary studies that collect the ...
Clara Yurina Núñez Castillo +3 more
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Intratemporal complications of otitis media [PDF]
, 2013 Otitis media (OM) is considered a potentially severe disease due to the risk of complications. OBJECTIVE: To establish the annual incidence of intratemporal complications (ITC) resulting from OM and to prospectively assess patients for epidemiological ...
Andrade, José Santos Cruz de +4 more
core +3 more sources
The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome
Clinical Genetics, EarlyView.Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin +4 more
wiley +1 more source
New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]
, 1984 The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter +3 more
core +1 more source
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Clinical Genetics, EarlyView.Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm +24 more
wiley +1 more source
Drug and Alcohol Review, EarlyView.ABSTRACT Introduction Severe alcohol withdrawal syndrome (SAWS) can lead to significant morbidity and mortality. The Prediction of Alcohol Withdrawal Severity Scale (PAWSS) has been validated in general acute care environments, but its efficacy in withdrawal management settings remains underexplored. This study aimed to assess the utility of a modified
Hannah Crepeault +7 more
wiley +1 more source
Cardiovascular changes after administration of aerosolized salbutamol in horses: five cases [PDF]
, 2014 Prevention and treatment of intraoperative hypoxemia in horses is difficult and both efficacy and safety of therapeutic maneuvers have to be taken into account.
AE Wagner +24 more
core +4 more sources
Status epilepticus in older adults: A critical review
Epilepsia, EarlyView.Abstract Older adults (≥60 years of age) have the highest incidence of status epilepticus (SE) among adults and experience the highest morbidity and mortality. SE incidence increases with age in adulthood. A recent study from Austria estimated an incidence of 89.6/100 000 and 67.6/100 000 person‐years adjusted for age and sex in women and men aged >60 ...
Matthew R. Woodward +5 more
wiley +1 more source