No abstract

Nonsense mutations conferred a higher risk for while allele T in CD44(95102) (A/T) might play a protective role against inhibitor development in Chinese HB patients.

Early diagnosis and early initiation of the treatment of confirmed infections is the most effective strategy for managing H7N9 virus infection. Human beings exposed to H7N9 virus may develop asymptomatic infection.

Introduction As the pharmacokinetics (PK) of factor VIII (FVIII) is individualized in children with haemophilia A (HA), PK parameters may be indicators of patients' bleeding phenotype and instruction for their personalized replacement program. Aim The aim of this study was to investigate the possible relationship between PK/FVIII level and bleeding frequency in Chinese paediatric patients with severe (HA). Methods A total of 24 patients were enrolled in Beijing Children's Hospital from February to October 2015, all of whom were given 50 IU/kg of FVIII concentrates after a 72‐hours washout period. Samples' activities (FVIII:C) were tested at 5 time points, using WinNonlin software for PK testing, and then the individual half‐life(t1/2) and the time (h) of FVIII concentrations <1 IU/dL within a week during prophylaxis were calculated. Baseline and the annual bleeding rate (ABR), annual joint bleeding rate (AJBR) were recorded and analyzed. Results The mean t1/2 of FVIII was 10.20 ± 2.72 hours and the mean time of FVIII <1 IU/dL in 1 week was 44.7 hours (−38.56 to 102.33 hours). A significant relationship between t1/2 of FVIII and ABR0/AJBR0 (baseline bleeding) was found (R2 = 0.75 and 0.62, P < .001). Besides, baseline and the annual bleeding rate during prophylactic treatment of haemophilia had a positive correlation with the time (hours) of FVIII <1 IU/dL in 1 week (R2 = 0.67 and 0.52, P < .001). Conclusion t1/2 was an important indicator to prevent bleeding in severe HA; the frequency of bleeding will be reduced with the increased of t1/2 of FVIII. The data also demonstrates that increasing the time with a FVIII<1 IU/dL is associated with an increased rate of bleeding during prophylaxis.

No abstract

Objectives: To evaluate the association of mannose-binding lectin (MBL) deficiency with susceptibility and clinical features of group B Streptococcus (GBS) causing meningitis in Chinese infants. Methods: During 2014e2017, 33 infants with laboratory-confirmed GBS meningitis were included. Six polymorphisms (H/L, Y/X, P/Q, A/D, A/B and A/C) of MBL were sought for in these patients and in 330 healthy controls by PCR-based sequencing. Serum MBL concentration was determined. Results: Significantly higher frequency of MBL variant genotype A/B was found in patients than controls (15/33, 45%, vs. 79/330, 24%, p¼0.011). Patients with variant genotype A/B had significantly lower serum MBL than those with wild-type genotype A/A (median, 482.87 vs. 1455.13 ng/mL, p¼0.002). Moreover, patients with genotype A/B had significantly higher level of C-reactive protein (median, 146 vs. 41 mg/L, p¼0.007), neutrophil (median, 58.1% vs. 45.7%, p¼0.033) and neutrophil-to-lymphocyte ratio in blood (median, 2.32 vs. 1.03, p¼0.018) compared to those with genotype A/A. No significant differences were observed in clinical features of patients with different genotypes. Conclusions: Our result suggested that infants with MBL deficiency are at higher risk of meningitis caused by GBS. Further studies in different populations with larger number of subjects are needed.

No abstract

No abstract