P498: Clinical treatment patterns and outcomes of sickle cell from the Arkansas newborn screening long term follow-up database study: 2011-2023
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Abstract:
Sickle cell disease (SCD) is one of the most common genetic diseases, affecting nearly every organ, causing disability and reduced life expectancy. Newborn screening (NBS) is a successful public health initiative identifying SCD and other hemoglobinopathy disorders in infants to facilitate early treatment and management. A linked comprehensive surveillance system for SCD does not exist across programs in the United States (US), but collaborative efforts backed by agencies such as the Centers for Disease Control and Prevention and Centers for Medicare and Medicaid Services (CMS) are in place to generate population-based longitudinal public health surveillance to inform understanding of long-term outcomes.Cite
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Seperti pada dewasa, teknik regional anestesi pada pediatrik kini makin popular digunakan oleh ahli anestesikarena keuntungannya. Namun demikian selalu ada risiko dan kemungkinan timbulnya komplikasi dari setiap tindakan yang dilakukan, termasuk tindakan anestesi regional pada pediatrik. Insidensi komplikasi anestesi regional pada pediatrik tidak banyak, dan kalaupun terjadi komplikasi adalah minor. Komplikasi bisa diakibatkan dari identifikasi ruang saraf, alat, obat, teknis tindakan anestesi regionalnya dan komplikasi lainnya.Walaupun tidak banyak kejadian komplikasi regional anestesi yang dilaporkan pada pediatrik, dan bukanlah komplikasi yang fatal, teknik regional anestesi pada pediatrik harus dilakukan dengan lebih hatihati, pertimbangan risiko dan keuntungannya untuk menghindari terjadinya komplikasi, terlebih karena kebanyakan komplikasi dapat dihindari dengan mempelajari teknik yang benar, menggunakan peralatan yang sesuai, dan sangat menerapkan prinsip keamanan pada pasien dengan baik.
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Genentech is partnering with the German cancer company Affimed to develop immunotherapies for multiple kinds of solid and blood cancers. Affimed is developing therapies that engage natural killer cells of the innate immune system to help direct them to attack cancer cells. Genentech will pay Affimed $96 million up front and up to $5 billion more in potential payments.
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Congenital hypothyroidism
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Aims
MSUD is an inherited metabolic condition, caused by BCKD (branched-chain ketoacid dehydrogenase) complex deficiency. Although rare, mimicry of presentation makes MSUD a condition of interest to the general paediatrician. Neurological presentation is variable and catastrophic in the classical form with infantile toxic encephalopathy. However outcome can be improved by early diagnosis and treatment. NBS (Newborn Screening) for MSUD was introduced nationally in 2013. We aimed to assess the impact of screening on MSUD time to diagnosis and outcome for cases referred to tertiary metabolic services.Methods
We retrospectively analysed the demographics, presentation, biochemical data, clinical management and outcome of all MSUD cases diagnosed within the data capture period: September 2000–2018. Exclusion criteria were cases older than 18 years (n=8), Type E3 variants (n=2) and prematurity with neonatal encephalopathy (n=2).Results
23 met inclusion criteria: 11 were diagnosed by NBS, 9 were clinical diagnoses, and 3 were prospective diagnoses. MSUD diagnosed by NBS: Of this cohort, 3 neonates (27.2%) were asymptomatic and 8 neonates (72.7%) were hospitalised with symptoms at the time of screening result. Median age of symptoms was 5 days (1–8 days); median age of diagnosis was 8 days (7–12 days). Peak median leucine level was 2873 umol/L (360–4307). 8 received dialysis (72.7%) and 3 (27.2%) managed conservatively. One child has feeding difficulties; one has speech delay; 9 children (81.8%) have no known neurological/developmental sequelae.MSUD diagnosed clinically
9 were diagnosed clinically. Average age of symptoms was 7 days (2 days- 5 months); median age of diagnosis 13 days (6 days-8.7 years). Median peak leucine level was 3395 umol/L (236–3849). 5 received dialysis (55.6%) and 4 (44.4%) were managed conservatively. Of this cohort, 3 (33.3%) have normal development and 6 (66.7%) have mild-severe neurological, developmental or behavioural abnormalities.Conclusions
NBS appears to have improved the outcome for children in this cohort. A high index of suspicion is encouraged for sick neonates admitted prior to NBS result becoming available. Further cohort analysis and standardised objective developmental follow up, would contribute to research in this important field.Cite
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The nationally-recognized Susquehanna
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singing that will take you to new
heights!
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