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Chloroquine and hydroxychloroquine - safety profile of potential COVID-19 drugs from the rheumatologist’s perspective

100%

Majewski D., Majewska K. A., Naskrecka M., Grygiel-Gorniak B.

Annals of Agricultural and Environmental Medicine

2021

tom 28

nr 1

Malnutrition as the cause of growth retardation among children in developed countries

100%

Budzulak J., Majewska K. A., Kedzia A.

Annals of Agricultural and Environmental Medicine

2022

tom 29

nr 3

Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index

76%

Nowacka-Woszuk J., Cieslak J., Skowronska B., Majewska K. A., Stankiewicz W., Fichna P., Switonski M.

Journal of Applied Genetics

2011

tom 52

nr 3

Extensive studies of the MC4R gene polymorphism showed that, among numerous variants, there are mutations responsible for monogenic obesity, as well as polymorphisms negatively correlated with the risk of obesity. In this report, we present the first studies of the whole coding sequence of the MC4R gene in 243 Polish obese children and adolescents (the mean relative body mass index [RBMI] was 163.6). In addition, 101 non-obese adults were also analyzed. Direct sequencing facilitated the identification of six missense (K73R, V103I, T112M, S127L, M215L, and I251L) and one silent (c.756 C > T) single-nucleotide polymorphisms (SNPs). Two non-synonymous polymorphisms (K73R and M215L) appeared to be novel and one was found in obese patients (M215L, one patient) and one in non-obese adults (K73R, one person). The overall frequency of non-synonymous variant carriers reached 4.1% and 6.9% in obese patients and non-obese adults, respectively. Only one obesity-associated variant (127L) was found in two obese patients (0.82%) and in two non-obese adults (1.98%). The obesity-protecting variants (103I and 251L) appeared to be the most common in both groups: 3.3% and 4.0%, respectively. It was also observed that the RBMI in obese children and adolescents carrying the minor variants did not differ significantly from the non-carriers; however, the expected trends for the associated and protecting variants were observed. We conclude that the contribution of the MC4R gene variants to the pathogenesis of obesity in Polish children and adolescents is low.

Ograniczanie wyników

2 Annals of Agricultural and Environmental Medicine

1 Journal of Applied Genetics

3 Majewska K. A.

1 Budzulak J.

1 Cieslak J.

1 Fichna P.

1 Grygiel-Gorniak B.

1 Kedzia A.

1 Majewski D.

1 Naskrecka M.

1 Nowacka-Woszuk J.

1 Skowronska B.

1 Stankiewicz W.

1 Switonski M.

1 2022

1 2021

1 2011

Wyniki wyszukiwania

Chloroquine and hydroxychloroquine - safety profile of potential COVID-19 drugs from the rheumatologist’s perspective

Malnutrition as the cause of growth retardation among children in developed countries

Missense mutations and polymorphisms of the MC4R gene in Polish obese children and adolescents in relation to the relative body mass index