scholarly journals Comparison of a full systematic review versus rapid review approaches to assess a newborn screening test for tyrosinemia type 1

2017 ◽  
Vol 8 (4) ◽  
pp. 475-484 ◽  
Author(s):  
Sian Taylor-Phillips ◽  
Julia Geppert ◽  
Chris Stinton ◽  
Karoline Freeman ◽  
Samantha Johnson ◽  
...  
2016 ◽  
Vol 70 (Suppl 1) ◽  
pp. A64.1-A64
Author(s):  
C Stinton ◽  
S Taylor-Phillips ◽  
J Geppert ◽  
K Freeman ◽  
S Johnson ◽  
...  

2017 ◽  
Vol 12 (1) ◽  
Author(s):  
Chris Stinton ◽  
Julia Geppert ◽  
Karoline Freeman ◽  
Aileen Clarke ◽  
Samantha Johnson ◽  
...  

2017 ◽  
Vol 12 (1) ◽  
Author(s):  
Julia Geppert ◽  
Chris Stinton ◽  
Karoline Freeman ◽  
Hannah Fraser ◽  
Aileen Clarke ◽  
...  

2021 ◽  
Vol 2021 ◽  
pp. 1-8
Author(s):  
Noor A. Megdadi ◽  
Ahmad K. Almigdad ◽  
Mo’men O. Alakil ◽  
Shahrazad M. Alqiam ◽  
Sumaia G. Rababah ◽  
...  

Background. Hereditary tyrosinemia type 1 (HT1) is a recessively inherited inborn error of metabolism affecting the final step of tyrosine catabolism. The accumulation of tyrosine toxic metabolites leads to progressive hepatic, renal, and neurological manifestations. Treatment of HT1 consists of tyrosine-restricted diets and nitisinone. The untreated disease progresses into life-threatening liver failure with an increased risk of hepatocellular carcinoma. Methods. From April 2010 to March 2021, eighteen patients were diagnosed with HT1 in the metabolic department at Queen Rania Al Abdullah Hospital for Children in Jordan. Patients were reviewed retrospectively regarding their clinical features, laboratory data, and sociodemographic history. Results. The mean age of nine boys and nine girls was 6.03 years ( SD ± 3.85 ). The mean age for symptom onset was 5.61 months ( SD ± 6.02 ). However, the diagnosis was belated from the onset by 10.50 months (±10.42). Nitisinone treatment was delayed from diagnosis around 12.28 months ( SD ± 25.36 ). Most of the patients (66.7%) had acute onset of the disease. Two children (11.1%) died due to hepatic complications. Positive family history was identified in 61.1% of patients, and a similar percentage were born to parents with consanguineous marriage. The most common presentation was abdominal pain, vomiting, and fever. Hepatomegaly and abdominal distention were the most common findings. Six patients’ (42.9%) first presentation was rickets. Conclusion. HT1 diagnosis is usually delayed because it is not part of newborn screening and nonfamiliarity with the clinical features of the disease. Therefore, nationwide newborn screening should be expanded to include HT1.


Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 310-LB
Author(s):  
AURELIA C.H. WOOD ◽  
MARIA S. REMEDI ◽  
COLIN NICHOLS ◽  
BESS A. MARSHALL

2020 ◽  
Author(s):  
Anthony Pease ◽  
Clement Lo ◽  
Arul Earnest ◽  
Velislava Kiriakova ◽  
Danny Liew ◽  
...  

<b>Background: </b>Time-in-range is a key glycaemic metric, and comparisons of management technologies for this outcome are critical to guide device selection. <p><b> </b></p> <p><b>Purpose: </b>We conducted a systematic review and network meta-analysis to compare and rank technologies for time in glycaemic ranges.</p> <p> </p> <p><b>Data sources: </b>We searched All Evidenced Based Medicine Reviews, CINAHL, EMBASE, MEDLINE, MEDLINE In-Process and other non-indexed citations, PROSPERO, PsycINFO, PubMed, and Web of Science until 24 April, 2019.</p> <p> </p> <p><b>Study selection: </b>We included randomised controlled trials <u>></u>2 weeks duration comparing technologies for management of type 1 diabetes in adults (<u>></u>18 years of age), excluding pregnant women. </p> <p> </p> <p><b>Data extraction: </b>Data were extracted using a predefined template. Outcomes were percent time with sensor glucose levels 3.9–10.0mmol/l (70–180mg/dL), >10.0mmol/L (180mg/dL), and <3.9mmol/L (70mg/dL). </p> <p><b> </b></p> <p><b>Data synthesis: </b>We identified 16,772 publications, of which 14 eligible studies compared eight technologies comprising 1,043 participants. Closed loop systems lead to greater percent time-in-range than any other management strategy and was 17.85 (95% predictive interval [PrI] 7.56–28.14) higher than usual care of multiple daily injections with capillary glucose testing. Closed loop systems ranked best for percent time-in-range or above range utilising surface under the cumulative ranking curve (SUCRA–98.5 and 93.5 respectively). Closed loop systems also ranked highly for time below range (SUCRA–62.2). </p> <p><b> </b></p> <p><b>Limitations: </b>Overall risk of bias ratings were moderate for all outcomes. Certainty of evidence was very low.</p> <p><b> </b></p> <p><b>Conclusions: </b>In the first integrated comparison of multiple management strategies considering time-in-range, we found that the efficacy of closed loop systems appeared better than all other approaches. </p>


Sign in / Sign up

Export Citation Format

Share Document