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Mashup Score: 0All States Now Have Policies Supporting Screening for CCHDs - 7 month(s) ago
A CDC study found that, as of 2018, all 50 states and Washington, D.C. have newborn screening programs that test for critical congenital heart defects.
Source: www.cdc.govCategories: Latest Headlines, PediatricsTweet
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Mashup Score: 0Testing for CF - 8 month(s) ago
Diagnosing CF is a multistep process. A complete diagnostic evaluation should include a newborn screening, a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.
Source: www.cff.orgCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 0Equitable Access in Question as Newborn Genetic Screening Advances - 8 month(s) ago
While the challenges in affordability and accessibility emphasize the importance of early awareness and interventions, equitable access to the screening itself poses a crucial hindrance.
Source: www.ajmc.comCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 0Newborn Screening: MedlinePlus - 8 month(s) ago
Your newborn infant has screening tests before leaving the hospital. Get the facts about these tests and what you should expect.
Source: medlineplus.govCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 45Newborn Screening Is a Lifesaver - 9 month(s) ago
Learn more about a new test to help babies with rare genetic disease get faster treatment.
Source: www.cdc.govCategories: General Medicine News, Latest HeadlinesTweet
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Mashup Score: 0Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases - 10 month(s) ago
Background Methylmalonic acidemia (MMA), which results from defects in methylmalonyl-CoA mutase ( mut type) or its cofactor, is the most common inherited organic acid metabolic disease in China. This study aimed to investigate the phenotype and genotype of mut -type MMA in Chinese patients. Methods We recruited 365 patients with mut -type MMA; investigated their disease onset, newborn screening…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 3Newborn Screening - National Organization for Rare Disorders - 12 month(s) ago
Screening for RUSP Conditions
Categories: Latest Headlines, Rare DiseaseTweet-
@ncats_nih_gov @US_FDA @DukeHealth Also being discussed: How we're shortening the time to diagnosis, and diagnosing #RareDiseases earlier with expanded #NewbornScreening. Consult NORD's State Report Card here to see how your state measures up on newborn screening: https://t.co/5lPKuPRebi #LivingRareForum
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Mashup Score: 1
Background Spinal muscular atrophy (SMA) is due to the homozygous absence of SMN1 in around 97% of patients, independent of the severity (classically ranked into types I–III). The high genetic homogeneity, coupled with the excellent results of presymptomatic treatments of patients with each of the three disease-modifying therapies available, makes SMA one of the golden candidates to genetic…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet-
Spinal Muscular Atrophy #NewbornScreening pilot - Italy "diagnosis ... a true medical urgency due to therapeutic implications" need for standardisation of SMN2 copy number assessment https://t.co/nsMzfUxk76 @famigliesma @OssMalattieRare @SMAEurope @SMANewsToday @CureSMA @SMA_UK_ https://t.co/fVUTVuIkJm
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Mashup Score: 0
Background Population-based DNA screening for medically actionable conditions has the potential to improve public health by enabling early detection, treatment and/or prevention; however, public attitudes and willingness to participate in DNA screening have not been well investigated. Methods We presented a scenario to members of the Australian public, randomly selected from the electoral roll…
Source: Journal of Medical GeneticsCategories: General Medicine Journals and Societies, Latest HeadlinesTweet
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Mashup Score: 0
Screening for RUSP Conditions NBS programs are regulated and administered at the state level, which allows each program to be customized to fit the state’s specific needs. The federal government Read more >
Categories: Latest Headlines, Rare DiseaseTweet
#NewbornScreening helps identify babies at risk of serious health conditions. All US newborns can be screened for critical congenital heart defects, which allows for timely identification and may prevent death early in life. https://t.co/Yh1joZphsj https://t.co/sTDyvx9kDw