Results 171 to 180 of about 51,591 (290)
Electroretinographic and visual evoked potential abnormalities in myotonic dystrophy.
, 1986 Pattern visual evoked potentials (VEPs) and electroretinograms (ERGs) were recorded in 20 patients with myotonic dystrophy. Thirteen out of 20 cases presented both VEP and ERG abnormalities, 3 only ERG alterations, 2 only abnormal VEPs.
V. Rossi +7 more
core
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Staging concept for aging management: Definition, mechanism, and coping strategies
VIEW, EarlyView.We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang +6 more
wiley +1 more source
Diagnostic validation of the 00325 Inadequate Self‐Compassion
International Journal of Nursing Knowledge, EarlyView.Abstract Background Self‐compassion is an essential component of self‐care. Recognizing it as a nursing diagnosis can promote interventions to address Inadequate Self‐Compassion. Aim This study aims to clinically validate the new NANDA‐I diagnosis (00325) Inadequate Self‐Compassion.
Aarón Muñoz‐Devesa +5 more
wiley +1 more source
Allergy, EarlyView.ABSTRACT In the last decades, critical advancements in research technology and knowledge on disease mechanisms steered therapeutic approaches for chronic inflammatory diseases towards unprecedented target specificity. For allergic and chronic lung diseases, biologic drugs pioneered this goal, acquiring on the way—through the clinical use of monoclonal ...
F. Roth‐Walter +20 more
wiley +1 more source
Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome. [PDF]
BMJ Case Rep, 2015 Kamal-Salah R +3 more
europepmc +1 more source
Acta Ophthalmologica, EarlyView.Abstract Purpose To evaluate the surgery‐induced changes of astigmatism after Descemet membrane endothelial keratoplasty (DMEK) in eyes with failed previous penetrating keratoplasty (PK). Design Retrospective, interventional cohort study based on prospective DMEK database.
Florian Thomas Steinberg +6 more
wiley +1 more source
The oscillatory response of the electroretinogram and neuronal adaptation
Acta Ophthalmologica, EarlyView.Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley +1 more source