Concern of photosensitive seizures evoked by 3D video displays or virtual reality headsets in children: Current perspective

This review assesses the risk of a photic-induced seizure in a child during viewing of 3D (binocular 3 dimensional, stereoscopic) movies or games, either on standard video displays or when wearing a virtual reality (VR) headset. Studies published by pediatric epilepsy experts emphasize the low risk of 3D viewing even for children with known photosensitive epilepsy (PSE). The low incidence of PSE is noteworthy because the number of hours devoted to 2D or 3D screen viewing and/or VR headset use by children worldwide has increased markedly over the last decade. The medical literature does not support the notion that VR headset use poses a risk for PSE

How Does the Ketogenic Diet Work? Four Potential Mechanisms

The ketogenic diet and its newer variants are clinically useful in treating epilepsy. They can also have antiepileptogenic properties and can eventually have a role in treating other neurologic and nonneurologic conditions. Despite being nearly a century old, identifying the molecular underpinnings of the ketogenic diet has been challenging. However, recent studies provide experimental evidence for 4 distinct mechanisms that could contribute to the antiseizure and other beneficial effects of these diets. These mechanisms include carbohydrate reduction, activation of adenosine triphosphate (ATP)–sensitive potassium channels by mitochondrial metabolism, inhibition of the mammalian target of rapamycin pathway, and inhibition of glutamatergic excitatory synaptic transmission. </jats:p

An expert consensus for the management of chronic hepatitis B in Asian Americans.

BACKGROUND: Hepatitis B virus (HBV) infection is common with major clinical consequences. In Asian Americans, the HBsAg carrier rate ranges from 2% to 16% which approximates the rates from their countries of origin. Similarly, HBV is the most important cause of cirrhosis, hepatocellular carcinoma (HCC) and liver related deaths in HBsAg positive Asians worldwide. AIM: To generate recommendations for the management of Asian Americans infected with HBV. METHODS: These guidelines are based on relevant data derived from medical reports on HBV from Asian countries as well as from studies in the HBsAg positive Asian Americans. The guidelines herein differ from other recommendations in the treatment of both HBeAg positive and negative chronic hepatitis B (CHB), in the approach to HCC surveillance, and in the management of HBV in pregnant women. RESULTS: Asian American patients, HBeAg positive or negative, with HBV DNA levels \u3e2000 IU/mL (\u3e10 CONCLUSIONS: Application of the recommendations made based on a review of the relevant literature and the opinion of a panel of Asian American physicians with expertise in HBV treatment will inform physicians and improve patient outcomes

Using Magnetically Responsive Tea Waste to Remove Lead in Waters under Environmentally Relevant Conditions

We report the use of a simple yet highly effective magnetite-waste tea composite to remove lead(II) (Pb[superscript 2+]) ions from water. Magnetite-waste tea composites were dispersed in four different types of water–deionized (DI), artificial rainwater, artificial groundwater and artificial freshwater–that mimic actual environmental conditions. The water samples had varying initial concentrations (0.16–5.55 ppm) of Pb[superscript 2+] ions and were mixed with the magnetite-waste tea composite for at least 24 hours to allow adsorption of the Pb[superscript 2+] ions to reach equilibrium. The magnetite-waste tea composites were stable in all the water samples for at least 3 months and could be easily removed from the aqueous media via the use of permanent magnets. We detected no significant leaching of iron (Fe) ions into the water from the magnetite-waste tea composites. The percentage of Pb adsorbed onto the magnetite-waste tea composite ranged from ~70% to 100%; the composites were as effective as activated carbon (AC) in removing the Pb[superscript 2+] ions from water, depending on the initial Pb concentration. Our prepared magnetite-waste tea composites show promise as a green, inexpensive and highly effective sorbent for removal of Pb in water under environmentally realistic conditions.SUTD-MIT International Design Center (Research Grant IDG11200105/IDD11200109)Singapore-MIT Allianc

Visually sensitive seizures: An updated review by the Epilepsy Foundation

Light flashes, patterns, or color changes can provoke seizures in up to 1 in 4000 persons. Prevalence may be higher because of selection bias. The Epilepsy Foundation reviewed light‐induced seizures in 2005. Since then, images on social media, virtual reality, three‐dimensional (3D) movies, and the Internet have proliferated. Hundreds of studies have explored the mechanisms and presentations of photosensitive seizures, justifying an updated review. This literature summary derives from a nonsystematic literature review via PubMed using the terms “photosensitive” and “epilepsy.” The photoparoxysmal response (PPR) is an electroencephalography (EEG) phenomenon, and photosensitive seizures (PS) are seizures provoked by visual stimulation. Photosensitivity is more common in the young and in specific forms of generalized epilepsy. PS can coexist with spontaneous seizures. PS are hereditable and linked to recently identified genes. Brain imaging usually is normal, but special studies imaging white matter tracts demonstrate abnormal connectivity. Occipital cortex and connected regions are hyperexcitable in subjects with light‐provoked seizures. Mechanisms remain unclear. Video games, social media clips, occasional movies, and natural stimuli can provoke PS. Virtual reality and 3D images so far appear benign unless they contain specific provocative content, for example, flashes. Images with flashes brighter than 20 candelas/m2at 3‐60 (particularly 15‐20) Hz occupying at least 10 to 25% of the visual field are a risk, as are red color flashes or oscillating stripes. Equipment to assay for these characteristics is probably underutilized. Prevention of seizures includes avoiding provocative stimuli, covering one eye, wearing dark glasses, sitting at least two meters from screens, reducing contrast, and taking certain antiseizure drugs. Measurement of PPR suppression in a photosensitivity model can screen putative antiseizure drugs. Some countries regulate media to reduce risk. Visually‐induced seizures remain significant public health hazards so they warrant ongoing scientific and regulatory efforts and public education

Frequently asked questions and answers on Visually-Provoked (Photosensitive) epilepsy

Clinical experts associated with national epilepsy-related societies, led by the Epilepsy Foundation, collected, collated and answered “Frequently asked questions (FAQ)” of broad interest pertaining to visually-provoked seizures. Questions emerged from people with epilepsy, caretakers and healthcare professionals from different countries around the world. Focus is on practical implications of visually-provoked seizures. The top 5 most frequently asked questions were. 1. How does a doctor make a diagnosis of visually-provoked seizures? 2. What can I do in general to prevent visually-provoked seizures? 3. Will I need antiseizure medications for my visually-provoked seizures?” 4. Will I outgrow visually-provoked seizures? How will I know if I've outgrown them? 5. How do I enable safety features to block content that could trigger seizures on social media, websites, phones, laptops and tablets?Answers were based on scientific evidence, where such information was available [1] and expert opinion when formal evidence was insufficient. Key answers included distinction of photoparoxysmal EEG findings versus light-provoked seizures. Typical provocation is by flashes at 10–25 per second or certain moving patterns. There is a genetic risk, which is outgrown in about half. Covering one or both eyes can prevent a light-provoked seizure. TV, videogames, virtual reality and 3D images are not in themselves provocative, but their content can be. Topics covered included: 1. Photosensitive epilepsy diagnosis; 2. Preventing visually-provoked seizures; 3. Do treatments help; 4. Life and behavioral decisions; 5. School; 6. Multi-media; 7. Children and youth

Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation

Nuclear import receptors of the KPNA family recognize the nuclear localization signal in proteins and together with importin-β mediate translocation into the nucleus. Accordingly, KPNA family members have a highly conserved architecture with domains that contact the nuclear localization signal and bind to importin-β. Here, we describe autosomal recessive mutations in KPNA7 found by whole exome sequencing in a sibling pair with severe developmental disability, infantile spasms, subsequent intractable epilepsy consistent with Lennox–Gastaut syndrome, partial agenesis of the corpus callosum, and cerebellar vermis hypoplasia. The mutations mapped to exon 7 in KPNA7 result in two amino-acid substitutions, Pro339Ala and Glu344Gln. On the basis of the crystal structure of the paralog KPNA2 bound to a bipartite nuclear localization signal from the retinoblastoma protein, the amino-acid substitutions in the affected subjects were predicted to occur within the seventh armadillo repeat that forms one of the two nuclear localization signal-binding sites in KPNA family members. Glu344 is conserved in all seven KPNA proteins, and we found that the Glu354Gln mutation in KPNA2 is sufficient to reduce binding to the retinoblastoma nuclear localization signal to approximately one-half that of wild-type protein. Our data show that compound heterozygous mutations in KPNA7 are associated with a human neurodevelopmental disease, and provide the first example of a human disease associated with mutation of a nuclear transport receptor

Comparative effectiveness of epilepsy surgery versus additional anti-seizure medications for Lennox–Gastaut syndrome: study protocol for a multicenter, mixed-methods study

IntroductionLennox–Gastaut Syndrome (LGS) is a severe developmental epileptic encephalopathy without a known cure. Management of symptoms requires substantial care. Treatment options include anti-seizure medications, dietary therapy, and epilepsy surgery. Two main treatment pathways for patients with LGS with drug resistant epilepsy are additional anti-seizure medications or epilepsy surgery, which have been reported to be effective in reduction of seizure burden and improving quality of life. No studies have directly compared the outcomes of using epilepsy surgery versus using additional anti-seizure medications for the treatment of LGS.MethodsThis study is a multicenter, mixed-methods comparative effectiveness study of LGS patients who have undergone epilepsy surgery or have received an LGS-approved medication for treatment resistant seizures. Aim 1 will analyze the effect of surgical therapies and additional medication on two clinical outcomes: (1a) seizure-related healthcare utilization, and (1b) expressive communication, behavior, and parent-reported quality of life. Based on electronic health record review and coding validation as part of Aim 1a, we will develop computable phenotypes for LGS. The phenotypes will inform the analyses in Aim 1a and Aim 2. Aim 2 will describe the real-world utilization of these treatments across multiple healthcare institutions in the United States. Data will be collected from electronic health records, data marts in the National Patient-Centered Clinical Research Network (PCORnet®) format, caregiver surveys, and focus groups.DiscussionThis study of LGS will provide currently unavailable evidence concerning the real-world comparative effectiveness of epilepsy surgeries and additional anti-seizure medications. The outcomes are those that families identify as important: emergency medical care for seizures and patients’ functional outcomes. The results of this study may help guide decisions regarding the treatment of LGS and development of computable phenotypes for this rare disease. This study using PCORnet® data will also lay the groundwork for future large-scale studies on LGS and other rare epilepsies.Clinical trial registrationClinicalTrials.gov, identifier NCT05374824

X-chromosome and kidney function:evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1. All prioritized genes in loci showing significant sex-interactions were located next to androgen response elements (ARE). Five ARE genes showed sex-differential expressions. This study contributes new insights into sex-dimorphisms of kidney traits along with new prioritized gene targets for further molecular research.</p