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1.
Pak J Pharm Sci ; 36(2(Special)): 707-711, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37548212

RESUMO

Hypercholesterolemia is a condition with elevated cholesterol and lipid profile. It is the leading reason behind myocardial infarction and coronary heart disease. It is observed in young people as well due to a sedentary lifestyle. Triphala powder has a hypolipidemic and anti-hypercholesterolemia effect. This study was designed to investigate the effect of triphala powder against hypercholesterolemia. This study also examined Triphala powder's chemical composition. Total phenolic and flavonoid content were examined. Encapsulated 400 mg and 600 mg Triphala powder were given to treatment groups I and II. Lipid profile parameters were measured and compared at 0 weeks and 10th weeks in all groups. All results were analyzed using ANOVA in IBM SPSS Statistics 20. Results of proximate analyses have shown that Okra pod powder contains moisture 12.27%, ash 11.25%, nitrogen-free extract 45.93%, crude protein 13.37%, crude fat 2.95% and crude fiber 14.23%. Mineral analysis showed that iron and manganese are major minerals in triphala powder. Triphala powder showed a significant reduction in lipid profile parameters in hypercholesterolemia. All results are taken significantly at p<0.05.


Assuntos
Hipercolesterolemia , Hiperlipidemias , Humanos , Masculino , Adolescente , Hipercolesterolemia/tratamento farmacológico , Pós , Extratos Vegetais/uso terapêutico , Lipídeos
2.
Genes Genomics ; 45(2): 145-156, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36472766

RESUMO

BACKGROUND: Nonsyndromic autosomal recessive hearing loss (DFNB) is an etiologically heterogeneous disorder group showing a wide spectrum of onset ages and severity. DFNB genes are very diverse in their types and functions, making molecular diagnosis difficult. DFNB is particularly frequent in Pakistan, which may be partly due to consanguinity. OBJECTIVE: This study was performed to determine the genetic causes in Pakistani DFNB families with prelingual onset and to establish genotype-phenotype correlation. METHODS: Whole exome sequencing and subsequent genetic analysis were performed for 11 Pakistani DFNB families including eight consanguineous families. RESULTS: We identified eight pathogenic or likely pathogenic mutations in LOXHD1, GJB2, SLC26A4, MYO15A, and TMC1 from six families. The GJB2 mutations were identified in two families each with compound heterozygous mutations and a homozygous mutation. The compound heterozygous mutations in LOXHD1 ([p.D278Y] + [p.D1219E]) and GJB2 [p.M1?] + [p.G12Vfs*2]) were novel. The four missense or start-loss mutations were located at well conserved residues, and most in silico analysis predicted their pathogenicity. In addition to causative mutations, we found compound heterozygous mutations in PTPRQ as variants of uncertain significance. CONCLUSION: This study identified biallelic mutations as the underlying cause of early onset DFNB in six Pakistani families. This study will be helpful in providing an exact molecular diagnosis and treatment of prelingual onset deafness patients.


Assuntos
Surdez , Humanos , Paquistão , Surdez/genética , Mutação , Homozigoto , Proteínas Tirosina Fosfatases Classe 3 Semelhantes a Receptores/genética
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