and colleagues believe that there is much to learn from the experiences of low and middle income countries in co-producing knowledge and working with communities to find feasible and acceptable solutions to healthcare concerns on 21 February 2021 by guest. Protected by copyright.

Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N-acetylgalactosamine-6-sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA. All the exons and the adjacent intronic regions of the gene were amplified and sequenced in sixty-eight unrelated Indian families. We identified 136 mutant alleles comprising of 40 different mutations. We report twenty-two novel mutations that comprise of seventeen missense (p.Asn32Thr, p.Leu36Arg, p.Pro52Leu, p.Pro77Ser, p.Cys79Arg, p.His142Pro, p.Tyr191Asp, p.Asn204Thr, p.Gly188Ser, p.Phe216Ser, p.Trp230Cys, p.Ala291Ser, p.Gly317Arg, p.His329Pro, p.Arg386Ser, p.Glu450Gly, p.Cys501Ser), three splice-site variants (c.120+1G>C, c.1003-3C>G, c.1139+1G>A), one nonsense mutation (p.Gln414*) and one frameshift mutation (p.Pro420Leufs*440). Eighteen mutations have been reported earlier. Among these p.Ser287Leu (8.82%), p.Phe216Ser (7.35%), p.Asn32Thr (6.61%) and p.Ala291Ser (5.88%) were the most frequent mutations in Indian patients but were rare in the mutational profiles reported in other populations. These results indicate that the Indian patients may have a distinct mutation spectrum compared to those of other populations. Mutant alleles in exon 1, 7 and 8 accounted for 44.8% of the mutations, and sequencing of these exons initially may be a cost-effective approach in Asian Indian patients. This is the largest study on molecular analysis of patients with MPS IVA reported in the literature, and the first report from India.

Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. It manifests with a severe neurological phenotype manifesting as severe developmental delay, congenital microcephaly, spasticity and refractory seizures. To date, nineteen patients from twelve unrelated families have been identified. Majority of the mutations are missense and nonsense mutations in homozygous or compound heterozygous state. We add another case from India which harbored a novel homozygous missense variation in exon 11 and compare the current case with previously reported cases.

Introduction In 2016, cardiovascular diseases (CVDs) led to 17.9 million deaths worldwide, representing 31% of all global deaths. CVDs are the leading cause of mortality worldwide and significant barriers to achieving the sustainable development goals. Modern medicines have been significant in improving health outcomes. However, non-adherence to medication is one of the reasons behind adverse health-related outcomes among patients suffering from atherosclerotic cardiovascular disease in low- and middle-income countries. Patients and Methods This qualitative study was conducted at two tertiary care hospitals in India and Ghana. A total of 35 in-depth interviews were conducted with atherosclerosis cardiovascular disease (ASCVD) patients. The data were analysed thematically using the Capability Opportunity and Motivation (COM-B) framework. Findings The findings were summarised under three important broad themes of the COM-B framework: capability, opportunity and behaviour. Under capability, comprehension of disease, medication schedule, and unplanned travel affected adherence among patients. Cost of medication, insurance and access were the critical factors under opportunity, which negatively influenced medication adherence. Mood, beliefs about treatment and outcome expectations under motivation led to non-adherence among patients. Apart from these factors, some important health system factors such as health care experience and trust in the facilities and reliance on alternative medication also affected adherence in both countries. Conclusion This study has highlighted that the health system factors have dominantly influenced adherence to medication in India and Ghana. In India, we found participants to be satisfied with their health care provided at the government hospitals. However, limited time for consultation, lack of well-stocked pharmacy and unclear prescription negatively influenced adherence among participants in India and Ghana. The study emphasises that the health system needs to be strengthened, and the patients’ belief system needs to be explored to address the issue of medication adherence in LMICs.

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