The context and approach for the California newborn screening short- and long-term follow-up data system: Preliminary findings

2010 ◽  
Vol 12 ◽  
pp. S242-S250 ◽  
Author(s):  
Lisa Feuchtbaum ◽  
Sunaina Dowray ◽  
Fred Lorey
2020 ◽  
Vol 6 (3) ◽  
pp. 72 ◽  
Author(s):  
Elizabeth G. Ames ◽  
Rachel Fisher ◽  
Mary Kleyn ◽  
Ayesha Ahmad

Two lysosomal storage disorders (LSDs), Pompe disease and Mucopolysaccharidosis type I (MPSI) were added to the Recommended Uniform Screening Panel (RUSP) for newborn screening (NBS) in 2015 and 2016, respectively. These conditions are being screened with variable practice in terms of primary and reflex analytes (either biochemical or molecular testing) as well as collection of short- and long-term follow-up elements. The goal of this study is to evaluate practices of state health departments in regards to screening methods and follow-up data collected. We conducted online surveys and phone questionnaires to determine each U.S. state’s practices for screening and follow-up of positive newborn screens. We report the first snapshot of practices for NBS for the LSDs included on the RUSP. All 50 U.S. states responded to our survey. The majority of U.S. states are not currently screening for Pompe disease and MPSI as of March 2020, but this number will increase to 38 states in the coming 1–3 years based on survey results. Our survey identifies data elements used by state health departments for short-and long-term follow-up that could serve as the basis of common elements for larger, public health-based analyses of the benefits and efficacy of screening for Pompe disease and MPSI.


2010 ◽  
Vol 12 ◽  
pp. S267-S268 ◽  
Author(s):  
Susan A. Berry ◽  
Michele A. Lloyd-Puryear ◽  
Michael S. Watson

2010 ◽  
Vol 12 ◽  
pp. S220-S227 ◽  
Author(s):  
Inderneel Sahai ◽  
Roger B. Eaton ◽  
Jaime E. Hale ◽  
Eleanor A. Mulcahy ◽  
Anne Marie Comeau

2021 ◽  
Vol 19 (2) ◽  
pp. 221-228
Author(s):  
Roza M. Shaimardanova ◽  
Rimma G. Gamirova

AIM: To conduct a retrospective comparative analysis of the efficacy and safety of epilepsy therapy with antiepileptic drugs. MATERIALS AND METHODS: The analysis of the treatment of 428 patients with epilepsy at the Childrens City Hospital No. 8 in Kazan, receiving antiepileptic drugs. RESULTS: It was found that valproic acid is more effective in the treatment of idiopathic generalized epilepsies compared to focal epilepsies (p = 0.0006). Valproate and carbamazepine were the most effective in the treatment of focal epilepsy with short- and long-term follow-up. Valproic acid is more effective than topiramate (p = 0.02), oxcarbazepine (p = 0.003), and levetiracetam (p = 0.003) in the treatment of focal epilepsy in short- and long-term follow-up. Carbamazepine is more effective than topiramate (p = 0.01), oxcarbazepine (p = 0.02), and levetiracetam (p = 0.001) in the treatment of focal epilepsy in long-term follow-up. It was revealed that more often they complained about side effects when using carbamazepine (63.2%). Levetiracetam was found to be better tolerated compared to valproate (p = 0.0006) and carbamazepine (p = 0.0006). Topiramate is better tolerated than carbamazepine (p = 0.02) and valproate (p = 0.03). Oxcarbazepine is better tolerated than carbamazepine in women (p = 0.04). CONCLUSIONS: When choosing an antiepileptic drug, it is necessary to be guided by the principle: first the basic, and then the drugs of the next generations, in the future, rely on information about the tolerability of the drug. It is necessary to evaluate the therapeutic effect of antiepileptic drugs with long-term observation, and use the criterion of complete absence of seizures as an indicator of the effectiveness of drugs.


PEDIATRICS ◽  
1976 ◽  
Vol 57 (1) ◽  
pp. 54-59
Author(s):  
J. Routt Reigart ◽  
Norris H. Whitlock

Short- and long-term comparison of the variations with time of whole blood lead and free erythrocyte porphyrins (FEP) suggests that changes in FEP are slow and predictable whereas blood lead changes are quite unpredictable. However, when FEP suggests a different clinical category from blood lead, the blood lead is likely to change in the direction predicted by the FEP. Comparison of FEP to blood lead at first contact in 349 children with mild elevation of blood lead reliably predicted which children would still have elevated blood lead six weeks later and which would fall or be normal. The observation of long-term follow-up in four groups of children with various combinations of FEP and blood lead indicated that the follow-up blood lead could be predicted to change in the direction indicated by the FEP measurement. The implications for screening for lead poisoning are discussed.


2011 ◽  
Vol 13 (10) ◽  
pp. 881-886 ◽  
Author(s):  
Ying Wang ◽  
Michele Caggana ◽  
Marilyn Sango-Jordan ◽  
Mingzeng Sun ◽  
Charlotte M. Druschel

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