The LOXL1 SNPs, rs1048661 and rs3825942, are associated with PXF in the South Indian population correlating with lowered LOX activity in the aqueous humor. The increased level of total TGF-β in the aqueous humor of PXF cases is possibly associated with LOX regulation which needs further investigation.
PurposeTo study the putative association of Membrane frizzled related protein (MFRP) and Visual system homeobox protein (VSX2) gene variants with axial length (AL) in myopia.MethodA total of 189 samples with (N = 98) and without (N = 91) myopia were genotyped for the MRFP and VSX2 variations in ABI Prism 3100 AVANT genetic analyzer. Genotype/haplotype analysis was performed using PLINK, Haploview and THESIAS softwares.ResultsFifteen variations were observed in the MFRP gene of which, rs36015759 (c.492C > T, T164T) in exon 5 was distributed at a high frequency in the controls and significantly associated with a low risk for myopia (P = 4.10 ∗ e− 07 OR < 1.0). An increased frequency for the coding haplotype block [CGTCGG] harboring rs36015759 was observed in controls (31%) than cases (8%) that also correlated with a decreased mean AL (− 1.35085; P = 0.000444) by THESIAS analysis. The ‘T’ allele of rs36015759 was predicted to abolish the binding site for splicing enhancer (SRp40) by FASTSNP analysis.ConclusionMyopia is a complex disorder influenced by genetic and environmental factors. Our work shows evidence of association of a specific MFRP haplotype which was more prevalent in controls with decreased AL. However, replication and functional studies are warranted to confirm these findings.
Background:
The influenza pandemics have caused serious morbidity and mortality around the world. Only a few studies have described the clinical profile of both influenza A and B infections among children and its seasonal variations.
Aims:
To study the clinical profile of children with influenza (A and B) admitted to a tertiary care hospital in India over a period of 17 months.
Methods:
A retrospective case file review was done for all influenza-positive cases (by real time-polymerase chain reaction) admitted in the ward and pediatric intensive care unit of a tertiary care hospital from January 2018 to May 2019.
Results:
A total of 164 admitted children were screened for influenza, of which 41 children (25%) were positive. Seasonal variation showed highest peak in the month of October with 17 positive cases (41%). Influenza B was observed during the first half of the year 2018 followed by an increase in influenza A infection in the last 6 months. The common presenting symptoms were cough (16, 39%) and respiratory distress (21, 51%). Out of 41, 18 children (44%) required respiratory support, but only 2 (5%) required mechanical ventilation. Hyponatremia was present at admission in 13 (61%) of 21 (51%) tested samples. The median length of hospital stay in the admission hyponatremia group was 7 days (interquartile range [IQR] 4, 15) as compared to the overall median length of stay of 4 days (IQR 3, 7).
Conclusions:
Our study showed a predominance of influenza B in the first half of the year and influenza A infection during the second half. A similar pattern was also seen in the first half of the subsequent year. Further studies are required to understand the impact of hyponatremia in these patients.
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