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Precision Health Database


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Rare Diseases

Last data update: Sep 22, 2023. (Total: 61629 Documents since 2012)
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Query Trace: all[original query]>>Reviews/Commentaries[Product Type]
Gene therapy for Hemoglobinopathies.
Maria Rosa Lidonnici et al. Hum Gene Ther 2023
Experts say Found’s story highlights the extraordinary complexity of the problem for pregnant people living with SCD – and the critical importance of receiving proper, specialized care as early as possible. This is especially true now 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.
K Miller, Self, September 2023
Diagnostic challenges in CFTR-related metabolic syndrome: Where the guidelines fall short.
Erin F Kallam et al. Paediatr Respir Rev 2023
Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023
Hemostasis - A Balancing Act.
H Marijke van den Berg et al. N Engl J Med 2023 389(9) 853-856
Using the methylome to predict pre-eclampsia
Tu’uhevaha J. Kaitu’u-Lino et al, Nature Medicine, August 28, 2023
Why cystic fibrosis newborn screening programs have failed to meet original expectations… thus far.
Philip M Farrell et al. Mol Genet Metab 2023 107679
Efficient screening strategies for severe combined immunodeficiencies in newborns.
Maartje Blom et al. Expert Rev Mol Diagn 2023 1-11
Smartphone Eye Examination: Artificial Intelligence and Telemedicine.
Manuel Augusto Pereira Vilela et al. Telemed J E Health 2023
Children with cystic fibrosis are still receiving inconclusive diagnosis despite undergoing newborn screening.
Ioanna Loukou et al. Acta Paediatr 2023
What Is Huntington Disease?
R Marcus, JAMA, August 21, 2023
Researchers uncover mysteries behind immune response to hemophilia A treatment
Medical XPress, August 2023
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Akshata Moghe et al. Mol Genet Metab 2023 140(3) 107670
Collaborative strategies for deploying AI-based physician decision support systems: challenges and deployment approaches.
Mirja Mittermaier et al. NPJ Digit Med 2023 6(1) 137
Persistent Underutilization of BRCA Testing for Breast and Ovarian Cancer in the United States: Implications for Health Disparities
L Shi et al, CDC Blog Post, July 25, 2023
Deep learning in neuroimaging of epilepsy.
Karla Batista García-Ramó et al. Clin Neurol Neurosurg 2023 232107879
A new era for glioma therapy - targeting mutant IDH.
David A Reardon et al. Nat Rev Clin Oncol 2023
Trial Confirms CAR T-Cell Therapy Benefits People with Aggressive Lymphomas
S Reynolds, NCI Blog, July 2023
Management of Down Syndrome-Associated Leukemias: A Review.
Anupam Verma et al. JAMA Oncol 2023
Precision Oncology for Papillary Craniopharyngioma.
Jaishri O Blakeley et al. N Engl J Med 2023 389(2) 179-181
Genomic newborn screening: are we entering a new era of screening?
Ute Spiekerkoetter et al. J Inherit Metab Dis 2023
Community Counts: Understanding Hemophilia and Other Bleeding Disorders through Public Health Surveillance
CDC webinar, August 24, 2023
Fragile X Syndrome – Moving Research FORWARD
CDC, July 2023
Genome Editing for Cystic Fibrosis.
Guoshun Wang et al. Cells 2023 12(12)
Real Evidence and Misconceptions about Malignant Hyperthermia in Children: A Narrative Review.
Luciano Frassanito et al. J Clin Med 2023 12(12)
The revolution of personalized pharmacotherapies for cystic fibrosis: what does the future hold?
Kathryn E Oliver et al. Expert Opin Pharmacother 2023
The cascade screening in heritable forms of pulmonary arterial hypertension.
Nidhy P Varghese et al. Pulm Circ 2023 13(3) e12259
Regulating cancer risk prediction: legal considerations and stakeholder perspectives on the Canadian context.
Palmira Granados Moreno et al. Hum Genet 2023
For Duchenne moms who pushed for cures, new breakthrough therapy can’t rebuild what’s lost
J Mast, Stat News, June 30, 2023
Why we need more Black blood donors to treat sickle cell anemia
SB Peter, CNN, June 27, 2023
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