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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Sep 21, 2023
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Pregnant and Living with Sickle Cell Disease: A Push for Better Outcomes
NIH, September 2023

From the website: " Experts say that medical advances in care and disease-modifying therapies have helped many people living with SCD survive well through their reproductive years. For parents-to-be, that means awareness is key. Individuals with SCD are at higher risk than the general population for preeclampsia, as Found discovered; but those with preeclampsia can go on to develop a condition called eclampsia, which can lead to seizures and even coma. People with SCD are also at higher risk for sepsis and blood clots. And there are risks for the fetus, such as lower-than-normal growth in the womb, preterm delivery, and stillbirth."

AI detects eye disease and risk of Parkinson's from retinal images.
Mariana Lenharo et al. Nature 2023 9

From the article: " Scientists have developed an artificial intelligence (AI) tool capable of diagnosing and predicting the risk of developing multiple health conditions — from ocular diseases to heart failure to Parkinson’s disease — all on the basis of people’s retinal images. AI tools have been trained to detect disease using retinal images before, but what makes the new tool — called RETFound — special is that it was developed using a method known as self-supervised learning. That means that the researchers did not have to analyse each of the 1.6 million retinal images used for training and label them as ‘normal’ or ‘not normal’, for instance. "

Lessons learned from the first national population-based genetic carrier-screening program for Duchenne Muscular Dystrophy.
A Singer et al, Genetics in Medicine, September 12, 2023

From the abstract: " Of overall 85,737 DMD tests, 82 clinically significant findings were noted (0.095%, or 1:1046 women). In addition, 80 findings with uncertain clinical significance were detected (0.093%, or 1:1072), as well as 373 cases (0.4%, or 1:230) of single exon deletions subsequently identified as false-positives due to underlying single nucleotide variant, mostly variants in exon 8 in North African Jewish population, and in exon 48 in Arab Muslim population."

Consumers Can Now Buy a Blood Test to Evaluate Their Alzheimer Disease Risk, but Should They?
R Rubin, JAMA, September 13, 2023

From the article: " AD-Detect Test for Alzheimer Disease is the first blood test available for consumers to purchase that measures a biomarker linked to the most common form of dementia. The test uses liquid chromatography–tandem mass spectrometry to assess the ratio of 2 amyloid-ß peptides, 42 and 40, in plasma. Amyloid deposits in the brain are a hallmark of Alzheimer disease, although many people who have them don’t develop cognitive impairment. Some neurologists and at least 1 bioethicist question the wisdom of marketing such a test to physicians, let alone to consumers. The test might not be ready for prime time, they say, expressing concern about the test’s accuracy as well as how consumers might interpret its results."

news Latest News and Publications
Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable? External Web Site Icon
Martina Ricci et al. Ann Neurol 2023
Evidence-based consensus guidelines for ALS genetic testing and counseling. External Web Site Icon
Jennifer Roggenbuck et al. Ann Clin Transl Neurol 2023
Experiences of adults living with refractory epilepsy and their views and expectations on receiving results from whole genome sequencing. External Web Site Icon
Cynthia Addona et al. Epilepsy Res 2023 196107221
Performance of single-gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting. External Web Site Icon
Julia Wynn et al. Prenat Diagn 2023
Efficacy of a bivalent (D614 + B.1.351) SARS-CoV-2 recombinant protein vaccine with AS03 adjuvant in adults: a phase 3, parallel, randomised, modified double-blind, placebo-controlled trial. External Web Site Icon
Dayan Gustavo H, et al. The Lancet. Respiratory medicine 2023 0 0.
Risk factors of Omicron variant associated acute encephalitis/encephalopathy in children. External Web Site Icon
Huang Chong-Wei, et al. Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2023 0 0.
Association of regular use of ibuprofen and paracetamol, genetic susceptibility, and new-onset dementia in the older population. External Web Site Icon
Yuanyuan Zhang et al. Gen Hosp Psychiatry 2023 84226-233
Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment. External Web Site Icon
et al. Ont Health Technol Assess Ser 2023 23(4) 1-398
Artificial intelligence for biomarker discovery in Alzheimer's disease and dementia. External Web Site Icon
Laura M Winchester et al. Alzheimers Dement 2023
Automated ASPECTS calculation may equal the performance of experienced clinicians: a machine learning study based on a large cohort. External Web Site Icon
Shu Wan et al. Eur Radiol 2023


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