Diagnostic Application of an Extensive Gene Panel for Leber Congenital Amaurosis with Severe Genetic Heterogeneity

We report results of a diagnostic application of an extensive gene panel composed of 204 retinal dystrophy–related genes and discuss its feasibility as a diagnostic tool. Nineteen unrelated LCA patients were included in the study: two patients for validation purposes of our gene panel, 15 previously analyzed patients with no identified mutations, and two previously unanalyzed patients.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research

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Publication date: Available online 9 November 2019Source: Neuroscience ResearchAuthor(s): Kounosuke Hirata, Yuto Nishiki, Ryosuke Goto, Mikito Inagaki, Katsuo Oshima, Yoshihito Shimazu, Mamoru TakedaAbstractSystemic administration of the dietary constituent, resveratrol, was previously shown to inhibit the nociceptive jaw-opening reflex (JOR) via the endogenous opioid system. The present study investigated whether resveratrol could similarly affect the JOR under in vivo conditions via 5 H T3 receptor-mediated GABAergic inhibition. We used electrical stimulation of the tongue in pentobarbital-anesthetized rats...
Source: Neuroscience Research - Category: Neuroscience Source Type: research
Authors: Li BT, Chen JX, Li HA, Huang XY PMID: 31698894 [PubMed - as supplied by publisher]
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
Publication date: Available online 8 November 2019Source: Artificial Intelligence in MedicineAuthor(s): Wenping Tang, Aiqun Wang, S. Ramkumar, Radeep Krishna Radhakrishnan NairAbstractParalyzed patients were increasing day by day. Some of the neurodegenerative diseases like amyotrophic lateral sclerosis, Brainstem Leison, Stupor and Muscular dystrophy affect the muscle movements in the body. The affected persons were unable to migrate. To overcome from their problem they need some assistive technology with the help of bio signals. Electrooculogram (EOG) based Human Computer Interaction (HCI) is one of the technique used in...
Source: Artificial Intelligence in Medicine - Category: Bioinformatics Source Type: research
ConclusionsAlthough semi-solid nutrients have several advantages, including reduced diarrhea and gastroesophageal reflux, evidence on semi-solid nutrients via the nasogastric tube is insufficient. It should be noted that semi-solid nutrient reflux can be more fatal than liquid nutrients.
Source: International Journal of Surgery Case Reports - Category: Surgery Source Type: research
Conclusions: Our findings indicate that a recessive GNAT1 mutation found in this family could be the cause of the golden appearance of the fundus and negative ERGs with reduced a-waves, and nearly absent b-waves in the mixed rod-cone ERGs. PMID: 31696758 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Publication date: Available online 7 November 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Julia J. Müller, Iwa Antonow-Schlorke, Nasim Kroegel, Sven Rupprecht, Florian Rakers, Otto W. Witte, Matthias SchwabAbstractPrenatal stress programs offspring cognitive and mental health outcome. We reviewed whether prenatal stress also programs cardiovascular dysfunction which potentially modulates cerebrovascular, cognitive and mental health disorders. We focused on maternal stress and prenatal glucocorticoid (GC) exposure which have different programming effects. While maternal stress induced cortisol is most...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
Hello: New to this forum. I am a board certified Pain Medicine MD. I have been seeing patients that are interested in stellate ganglion blocks (cervical sympathetic chain) for PTSD, depression, anxiety, etc. Most of these patients found my practice due to the specificity/complexity of this procedure. Apparently, a '60minutes' CBS piece and a Podcast has sparked interest in this procedure for the aforementioned conditions. I have done my due diligence and cannot find literature... PTSD and Stellate Ganglion Blocks
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Psychiatry Source Type: forums
Cardiac sympathetic nerve activity (CSNA) and epicardial adipose tissue (EAT) are known to be major determinants in the progression of atrial fibrillation (AF).
Source: International Journal of Cardiology - Category: Cardiology Authors: Source Type: research
Source: Annals of Hematology - Category: Hematology Source Type: research
Publication date: Available online 7 November 2019Source: Journal of Chemical NeuroanatomyAuthor(s): Henrique J.C.B. Gouveia, Raul Manhães-de-Castro, Bárbara J.R. Costa-de-Santana, Carolina R. Mendonça, Glayciele Leandro de Albuquerque, Diego Bulcão Visco, Diego Cabral Lacerda, Ana Elisa ToscanoAbstractBusulfan is a bifunctional alkylating agent used for myeloablative conditioning and in the treatment of chronic myeloid leukemia due to its ability to cause DNA damage. However, in rodent experiments, busulfan presented a potential teratogenic and cytotoxic effect. Studies have evaluated the effec...
Source: Journal of Chemical Neuroanatomy - Category: Neuroscience Source Type: research
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