ADP is a reliable and accurate instrument for determining %BF in infants, and it has the potential for use in both research and clinical settings.

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SummaryBackgroundPhenylketonuria (PKU) is a rare inborn disease, which, untreated, leading to severe neurobehavioral dysfunction. Considering its complexity, the management of PKU may bring a formidable economic burden to parents and caregivers. It is still unknown what the out-of-pocket expenses are for a patient with PKU in China. This paper explores the household financial burden of classical PKU and its impact on Chinese families in a quantitative manner for the first time.MethodsA non-interventional and observational study was conducted at the China-Japan Friendship Hospital, one of the national centers for inherited metabolic disorders in China. The medical and non-medical household financial burdens were consolidated into a questionnaire to evaluate the out-of-pocket costs (OOPCs) of PKU treatment and follow-up.FindingsThe total OOPCs were USD$3766.1 (0y), USD$3795.2 (1–2 ys), USD$4657.7 (3–4 ys), USD$5979.9 (5–8 ys), and USD$5588.7 (9 ys and older) for PKU patients of different age groups. The median economic burden of classical PKU was 75.0 % of total annual family income (range 1.0–779.1 %), and 94.4 % of the families exceeding the threshold considered as catastrophic expenditure. There was a negative correlation between the financial burden and the proportion of time when Phe concentrations were in the desired target range (120–250 μmol/L) in 0–4-ys group (r = -0.474, p = 0.026).ConclusionsThe management of PKU is associated with a severe financial burden on patients’ families, which may lead to insufficient treatment or variation of blood Phe concentration. The current reimbursement policies are as yet inadequate. A national reimbursement system targeting treatment practices for PKU patients and other rare diseases across China is imperative.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-016-9995-0) contains supplementary material, which is available to authorized users.

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This study provides valuable information on the current and historical situation of BH4 deficiency in mainland China.

Stargardt disease-4 (STGD4) is an autosomal dominant complex, genetically heterogeneous macular degeneration/dystrophy (MD) disorder. In this paper, we used targeted next generation sequencing and multiple molecular dynamics analyses to identify and characterize a disease-causing genetic variant in four generations of a Chinese family with STGD4-like MD. We found a novel heterozygous missense mutation, c.734T>C (p.L245P) in the PROM1 gene. Structurally, this mutation most likely impairs PROM1 protein stability, flexibility, and amino acid interaction network after changing the amino acid residue Leucine into Proline in the basic helix-loop-helix leucine zipper domain. Molecular dynamic simulation and principal component analysis provide compelling evidence that this PROM1 mutation contributes to disease causativeness or susceptibility variants in patients with STGD4-like MD. Thus, this finding defines new approaches in genetic characterization, accurate diagnosis, and prevention of STGD4-like MD.

Objective This study was performed to evaluate the diagnostic value of the neutrophil CD64 index in patients with sepsis in the intensive care unit (ICU). Methods Patients with sepsis who were treated at the ICU of the authors’ institution from December 2016 to June 2018 were retrospectively reviewed. The controls comprised age- and sex-matched patients who underwent coronary bypass and had no evidence of infection. The neutrophil CD64 index, C-reactive protein (CRP) level, and procalcitonin level were compared between the two groups. The diagnostic performance of these measures, including the sensitivity, specificity, and area under the receiver operating characteristic (ROC) curve, was examined. Results In total, 35 patients with sepsis and 27 control patients were included in the data analysis. The sensitivity of the neutrophil CD64 index, CRP level, and procalcitonin level was 83%, 74%, and 77%, respectively. The specificity was 88%, 86%, and 81%, respectively. The area under the ROC curve was 0.923 [95% confidence interval (CI), 0.856–0.989], 0.904 (95% CI, 0.832–0.976), and 0.863 (95% CI, 0.776–0.950), respectively. Conclusion The neutrophil CD64 index is a valuable biomarker for diagnosing sepsis in patients in the ICU.