9 research outputs found

    Clinical efficacy of dry nutritional treatment products for phenylketonuria in children, adults, and pregnant women: study results

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    N.A. Semenova1, G.V. Baydakova1, N.V. Nikitina2, V.K. Podolina2, E.Yu. Belyashova3,&nbsp;V.N. Kuznetsova3, E.M. Kochegurova4, L.P. Andreeva5, O.N. Khaylova5, S.I. Kutsev1 1Research Centre for Medical Genetics, Moscow, Russian Federation 2Clinical and Diagnostic Center “Protection of Health of Mother and Child”, Yekaterinburg, Russian Federation 3Orenburg Regional Clinical Hospital No. 2, Orenburg, Russian Federation 4E.M. Bakunina Regional Clinical Perinatal Center, Tver, Russian Federation 5Saratov Regional Children’s Clinical Hospital, Saratov, Russian Federation Abstract Aim: to assess the efficacy of domestic nutritional treatment products for phenylketonuria (PKU) in children, adults, and pregnant women. Patients and Methods: 46 patients with verified PKU were enrolled in this open-label multicenter prospective non-controlled study. Patients were allocated to the groups depending on nutritional treatment products which were prescribed according to the Clinical Guidelines of the Ministry of Health of Russian Federation. Clinical efficacy of the products was assessed according to the Good Clinical Practice guidelines based on clinical and laboratory tests. Results: all patients taken nutritional treatment products throughout the study. No dyspepsia, abnormal poop, or allergic reactions were reported. Most patients reported on more pleasant smell and odor of the products as compared with the products taken previously. At baseline, mean phenylalanine levels were within normal limits. After the treatment, phenylalanine levels were stable&nbsp; in all patients. Clinical and biochemical tests were within normal limits. Conclusion: dry nutritional treatment products are highly effective in children, adults, and pregnant women with PKU. Keywords: phenylketonuria, specialized food, phenylalanine, mixture, products. For citation: Semenova N.A., Baydakova G.V., Nikitina N.V. et al. Clinical efficacy of dry nutritional treatment products for phenylketonuria in children, adults, and pregnant women: study results. Russian Journal of Woman and Child Health. 2019;2(4):355–360. <br

    Hepatitis C Virus in people with experience of injection drug use following their displacement to Southern Ukraine before 2020

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    Abstract Background Due to practical challenges associated with genetic sequencing in low-resource environments, the burden of hepatitis C virus (HCV) in forcibly displaced people is understudied. We examined the use of field applicable HCV sequencing methods and phylogenetic analysis to determine HCV transmission dynamics in internally displaced people who inject drugs (IDPWID) in Ukraine. Methods In this cross-sectional study, we used modified respondent-driven sampling to recruit IDPWID who were displaced to Odesa, Ukraine, before 2020. We generated partial and near full length genome (NFLG) HCV sequences using Oxford Nanopore Technology (ONT) MinION in a simulated field environment. Maximum likelihood and Bayesian methods were used to establish phylodynamic relationships. Results Between June and September 2020, we collected epidemiological data and whole blood samples from 164 IDPWID (PNAS Nexus.2023;2(3):pgad008). Rapid testing (Wondfo® One Step HCV; Wondfo® One Step HIV1/2) identified an anti-HCV seroprevalence of 67.7%, and 31.1% of participants tested positive for both anti-HCV and HIV. We generated 57 partial or NFLG HCV sequences and identified eight transmission clusters, of which at least two originated within a year and a half post-displacement. Conclusions Locally generated genomic data and phylogenetic analysis in rapidly changing low-resource environments, such as those faced by forcibly displaced people, can help inform effective public health strategies. For example, evidence of HCV transmission clusters originating soon after displacement highlights the importance of implementing urgent preventive interventions in ongoing situations of forced displacement
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