Identification of PITX3 mutations in individuals with various ocular developmental defects.

CONCLUSIONS: Our study unveils different phenotypes associated with known and novel mutations in PITX3, which will improve the genetic counselling of patients and their families. PMID: 29405783 [PubMed - as supplied by publisher]
Source: Ophthalmic Genetics - Category: Opthalmology Tags: Ophthalmic Genet Source Type: research

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Attention-deficit/hyperactivity disorder (ADHD) symptoms in autism patients significantly decreased after just a short-period interaction with Empowered Brain, a Google Glass-powered educational augmented reality tool, outcome of a clinical research trial published in JMIR Mental Health on 2 April, World Autism Day, showed. In spite of its initial phase, the study shows AR’s future promise in positively impacting lives of people with autism. Gamified augmented reality against ADHD The preliminary study found that measures of hyperactivity, inattention, and impulsivity dropped by 56.4 percent in the patient group with...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Medical Augmented Reality ADHD AR attention autism future gamification google glass Healthcare Innovation research technology Source Type: blogs
ConclusionCDCA may reverse the pathophysiological process in patients with CTX, especially if treatment is initiated early in the disease process. Besides tendon xanthoma, this study stresses the need to consider plasma cholestanol measurement in any patient with infantile chronic diarrhea and/or jaundice, juvenile cataract, learning disability and/or autism spectrum disorder, pyramidal signs, cerebellar syndrome or peripheral neuropathy.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
AbstractCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme. CTX is associated with abnormally high levels of cholestanol in the blood and accumulation of cholestanol and cholesterol in the brain, tendon xanthomas, and bile. Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction. Although CTX is a rare disorder, it is thought to be underdiagnosed, as presenting signs and symptom...
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
ConclusionsWe conclude that ASD is an early and probably underestimated frequent feature in CTX. Metabolic screening for CTX should be performed in patients with ASD when accompanied by diarrhea, intellectual disability, juvenile cataract, and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve clinical outcome. Our results add CTX to the list of treatable IEMs associated with ASD.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
When Pokemon Go conquered the world, everyone could face the huge potential in augmented reality. Although the hype around the virtual animal hunting settled, AR continues to march triumphantly into more and more industries and fields, including healthcare. Here, I listed the most significant companies bringing augmented reality to medicine and healing.  Augmented Reality Vs. Virtual Reality Augmented reality (AR) has shown an amazing development curve since Boeing researcher, Thomas Caudell coined the term “augmented reality” in 1990. The technology changed how an NFL football game is perceived through te...
Source: The Medical Futurist - Category: Information Technology Authors: Tags: Medical Augmented Reality AR future GC1 Health Health 2.0 Innovation Medical education Medicine technology top VR Source Type: blogs
Conclusions:We conclude that ASD can be one of the presenting symptoms of CTX. Metabolic screening for IEM in patients with ASD should be considered on the basis of clinical findings, especially when accompanied by diarrhea, juvenile cataract, mental retardation and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve outcome. Our results add CTX to the list of IEM associated with ASD.Disclosure: Dr. Stelten has nothing to disclose. Dr. Verrips has received personal compensation for activities with Sigma-Tau Pharmaceuticals, Inc., USA and Sigma-Tau Rare Disease...
Source: Neurology - Category: Neurology Authors: Tags: Child Neurology II Source Type: research
Abstract Some genes involved in complex human diseases are particularly vulnerable to genetic variations such as single nucleotide polymorphism, copy number variations, and mutations. For example, Ras mutations account for over 30 % of all human cancers. Additionally, there are some genes that can display different variations with functional impact in different diseases that are unrelated. One such gene stands out: δ-catenin/NPRAP/Neurojungin with gene designation as CTNND2 on chromosome 5p15.2. Recent advances in genome wide association as well as molecular biology approaches have uncovered striking in...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
We report 3 cases of bilateral cataract secondary to self-inflicted blunt eye trauma in children with autism spectrum disorder (ASD). All 3 children hit their foreheads, orbits, or globes repeatedly for long periods of time and developed cataracts. Clinici...
Source: SafetyLit - Category: Global & Universal Tags: Age: Infants and Children Source Type: news
We report 3 cases of bilateral cataract secondary to self-inflicted blunt eye trauma in children with autism spectrum disorder (ASD). All 3 children hit their foreheads, orbits, or globes repeatedly for long periods of time and developed cataracts. Clinicians must be aware of this phenomenon to diagnose ocular pathology early and to provide adequate education, counseling, and services to affected patients and their families and to put appropriate postoperative care mechanisms in place to prevent permanent ocular damage.
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - Category: Opthalmology Source Type: research
Asbestos as a possible major cause of malignant lung tumors (including small cell carcinoma, adenocarcinoma &mesothelioma), brain tumors (i.e. astrocytoma &glioblastoma multiforme), many other malignant tumors, intractable pain including fibromyalgia, &some cardio-vascular pathology: Safe &effective methods of reducing asbestos from normal &pathological areas. Acupunct Electrother Res. 2006;31(1-2):61-125 Authors: Omura Y Abstract High incidences of Small Cell Carcinoma &Adenocarcinoma of the lung, Astrocytoma &Glioblastoma Multiforme of the brain and Mesothelioma of the lun...
Source: Acupuncture and Electro-Therapeutics Research - Category: Complementary Medicine Tags: Acupunct Electrother Res Source Type: research
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