27 research outputs found
CD40 gene polymorphism and its expression in children with Kawasaki disease from North India: a preliminary case–control study and meta-analysis
IntroductionCD40 gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the CD40 gene in patients with KD from the Indian subcontinent are not available. We studied the CD40 gene polymorphisms and its expression in children with KD from North India.MethodsSNPs of the CD40 gene (rs4810485, rs1535045) were studied using Sanger sequencing. CD40 expression was studied by flow cytometry. Meta-analysis was carried out to assess the role of both SNPs of the CD40 gene in KD. GRADEpro GDT software (v.3.2) was used to assess the “certainty of evidence.”ResultsForty-one patients with KD and 41 age-, sex-matched febrile controls were enrolled. However, none of the alleles and genotypes of the CD40 gene were found to be associated with KD. CD40 expression was higher in KD and in KD with CAAs compared to controls, but it failed to reach statistical significance. In a meta-analysis, the T allele of rs153045 was found to be significantly associated with KD (OR = 1.28; 95% confidence interval (: 1.09–1.50; p = 0.002). The GRADE of evidence for this outcome, however, is of “ very low certainty.”ConclusionThe present study found no association between SNPs (rs4810485 and rs153045) and susceptibility to KD. This could be a reflection of a modest sample size. CD40 expression was higher in KD and in KD with CAAs. In the meta-analysis, the T allele of rs153045 was significantly associated with KD. Our study confirms a significant genetic heterogeneity in KD among different ethnicities
APASL consensus statements and recommendations for hepatitis C prevention, epidemiology, and laboratory testing
The Asian Pacific Association for the Study of the Liver (APASL) convened an international working party on “APASL consensus statements and recommendations for management of hepatitis C” in March 2015 to revise the “APASL consensus statements and management algorithms for hepatitis C virus infection” (Hepatol Int 6:409–435, 2012). The working party consisted of expert hepatologists from the Asian–Pacific region gathered at the Istanbul Congress Center, Istanbul, Turkey on 13 March 2015. New data were presented, discussed, and debated during the course of drafting a revision. Participants of the consensus meeting assessed the quality of the cited studies. The finalized recommendations for hepatitis C prevention, epidemiology, and laboratory testing are presented in this review
Targeted gene sanger sequencing should remain the first-tier genetic test for children suspected to have the five common X-linked inborn errors of immunity
DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited
regions, our centre developed and offered free genetic testing for the most common IEI by
Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary
Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of
IEI were further improved with collaboration among centres caring for IEI patients from
East and Southeast Asia. We also started to use whole exome sequencing (WES) for
undiagnosed cases and further extended our collaboration with centres from South Asia
and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted
our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic
tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic
tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744
identified to have disease-causing mutations (54.1%). The high diagnostic rate after just
one round of targeted gene SS for each of the 5 common IEI (X-linked
agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined
immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%)
demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common
X-linked IEI.The Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.http://www.frontiersin.org/Immunologyam2023Paediatrics and Child Healt
<span style="font-size:11.0pt;mso-bidi-font-size:10.0pt; font-family:"Times New Roman";mso-fareast-font-family:"Times New Roman"; mso-ansi-language:EN-IN;mso-fareast-language:EN-IN;mso-bidi-language:AR-SA">Antidepressant and anxiolytic-like effects of<span style="font-size:11.0pt; mso-bidi-font-size:10.0pt;font-family:"Times New Roman";mso-fareast-font-family: "Times New Roman";mso-ansi-language:EN-GB;mso-fareast-language:EN-US; mso-bidi-language:AR-SA" lang="EN-GB"> 4n, a novel 5-HT<sub>3</sub> receptor antagonist using behaviour based rodent models</span></span>
625-632The present study was designed to investigate the putative antidepressant and
anxiolytic-like effects of <span style="mso-bidi-font-weight:
bold">N-n-Butylquinoxalin-2-carboxamide
(4n), a novel 5-HT3
receptor antagonist, with an optimal log P (2.01) and p<i style="mso-bidi-font-style:
normal">A2 value (7.3) greater than ondansetron (6.9) using
rodent behavioural models of depression and anxiety.
Acute treatment of 4n
(1-4 mg/kg, ip) in mice produced antidepressant-like effect in forced swim test
(FST) without affecting the baseline locomotion in actophotometer test in mice.
4n (2-4 mg/kg, ip) treatment also
potentiated the 5-hydroxytryptophan (5-HTP) induced head twitch response in
mice. Further, 4n (1-4 mg/kg, ip)
treatment antagonized reserpine induced hypothermia in rats. Chronic treatment
(14 days) with 4n (1-4 mg/kg) and
paroxetine (10 mg/kg) significantly attenuated the behavioural anomalies
induced by bilateral olfactory bulbectomy in rats in modified open field paradigm. <span style="mso-ansi-language:EN-IN;mso-fareast-language:
EN-IN">An anxiogenic-like behaviour was induced by light alone as the stimulus
using light-dark aversion test. 4n
(2-4 mg/kg, ip) treatment significantly increased no. of transitions between
dark and lit area and the time spent in the lit area. In
conclusion, these preliminary investigations confirm that <b style="mso-bidi-font-weight:
normal">4n exhibited antidepressant and <span style="mso-ansi-language:
EN-IN;mso-fareast-language:EN-IN">anxiolytic-like effects in rodent models of depression and anxiety.
</span
Primary Immunodeficiency Disorders in India—A Situational Review
Primary immunodeficiency disorders (PIDs) are a group of genetic defects characterized by abnormalities of one or more components of the immune system. While there have been several advances in diagnosis, management, and research in the field of PIDs, they continue to remain underdiagnosed, especially in the less affluent countries. Despite several limitations and challenges, India has advanced significantly in the field of PIDs in the last few years. In this review, we highlight the progress in the field of PIDs in India over the last 25 years, the difficulties faced by clinicians across the country, the current state of PIDs in India and the future prospects
An updated review on activated PI3 kinase delta syndrome (APDS)
Activated Phosphoinositide 3-kinase δ syndrome (APDS) is a newly recognised primary immunodeficiency disease. It has currently been a hot topic of clinical research and new data are emerging regarding its pathogenesis, clinical manifestations and treatment. Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation. It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted therapy like mTOR inhibitors such as Rapamycin and selective PI3Kδ inhibitors. We provide a comprehensive review on this interesting disorder focusing light on its etiology, genetic research and emerging therapy. Keywords: Activated phosphoinositide 3-kinase δ syndrome (APDS), Gain of function, Immunodeficiency, Lymphadenopathy, Lymphoproliferation, p110δ-activating mutation causing senescent T cell