10 results on '"Gusina, Nina"'
Search Results
2. Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.
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Jurecka, Agnieszka, Zakharova, Ekaterina, Cimbalistiene, Loreta, Gusina, Nina, Malinova, Vera, Różdżyńska‐Świątkowska, Agnieszka, Golda, Adam, Kulpanovich, Anna, Kaldenovna Abdilova, Gulnara, Voskoboeva, Elena, and Tylki‐Szymańska, Anna
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MUCOPOLYSACCHARIDOSIS , *STATURE , *PHENOTYPES , *DISEASE incidence , *DISEASE prevalence , *SEVERITY of illness index , *DESCRIPTIVE statistics , *GENOTYPES - Abstract
Background The aim of this study was to describe the natural clinical course, incidence and prevalence of mucopolysaccharidosis type VI ( MPS VI) in Russia, Kazakhstan, and Central and Eastern Europe. Methods Patients ( n = 49) were identified by retrieving the data from eight international centers for MPS VI. Results A large number of patients presented with an attenuated phenotype (33%). Height and genotype were related to the severity of the disease, while no clear trend was observed between height and urinary glycosaminoglycan level. A high prevalence of the p. R152W mutation was observed both in the whole series (42%) as well as in Russian patients (43%). The incidence rate ranged from 0.0363 to 0.64 per 100 000 live births in Poland and Lithuania, respectively. Conclusions The observed high p. R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p. R152W may be of Slavic, not Lithuanian origin. Resettlement of the Polish population after World War II resulted in dilution of the prevalence of carriers in Poland and a very low MPS VI incidence. [ABSTRACT FROM AUTHOR]
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- 2014
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3. Effects of promoting longer-term and exclusive breastfeeding on cardiometabolic risk factors at age 11.5 years: a cluster-randomized, controlled trial.
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Martin, Richard M, Patel, Rita, Kramer, Michael S, Vilchuck, Konstantin, Bogdanovich, Natalia, Sergeichick, Natalia, Gusina, Nina, Foo, Ying, Palmer, Tom, Thompson, Jennifer, Gillman, Matthew W, Smith, George Davey, and Oken, Emily
- Abstract
Background: The duration and exclusivity of breastfeeding in infancy have been inversely associated with future cardiometabolic risk. We investigated the effects of an experimental intervention to promote increased duration of exclusive breastfeeding on cardiometabolic risk factors in childhood.Methods and Results: We followed-up children in the Promotion of Breastfeeding Intervention Trial, a cluster-randomized trial of a breastfeeding promotion intervention based on the World Health Organization/United Nations Children's Fund Baby-Friendly Hospital Initiative. In 1996 to 1997, 17 046 breastfeeding mother-infant pairs were enrolled from 31 Belarusian maternity hospitals and affiliated polyclinics (16 intervention versus 15 control sites); 13 879 (81.4%) children were followed up at 11.5 years, with 13 616 (79.9%) who had fasted and did not have diabetes mellitus. The outcomes were blood pressure; fasting insulin, adiponectin, glucose, and apolipoprotein A1; and the presence of metabolic syndrome. Analysis was by intention to treat, accounting for clustering within hospitals/clinics. The intervention substantially increased breastfeeding duration and exclusivity in comparison with the control arm (43% versus 6% and 7.9% versus 0.6% exclusively breastfed at 3 and 6 months, respectively). Cluster-adjusted mean differences at 11.5 years between experimental versus control groups were as follows: 1.0 mm Hg (95% confidence interval, -1.1 to 3.1) for systolic and 0.8 mm Hg (-0.6 to 2.3) for diastolic blood pressure; -0.1 mmol/L (-0.2 to 0.1) for glucose; 8% (-3% to 34%) for insulin; -0.3 μg/mL (-1.5 to 0.9) for adiponectin; and 0.0 g/L (-0.1 to 0.1) for apolipoprotein A1. The cluster-adjusted odds ratio for metabolic syndrome, comparing experimental versus control groups, was 1.21 (0.85 to 1.72).Conclusions: An intervention to improve breastfeeding duration and exclusivity among healthy term infants did not influence cardiometabolic risk factors in childhood.Clinical Trial Registration: Current Controlled Trials: ISRCTN37687716 (http://www.controlled-trials.com/ISRCTN37687716). URL: http://clinicaltrials.gov. Unique identifier: NCT01561612. [ABSTRACT FROM AUTHOR]- Published
- 2014
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4. Effects of Promoting Longer-Term and Exclusive Breastfeeding on Cardiometabolic Risk Factors at Age 11.5 Years.
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Martin, Richard M., Patel, Rita, Kramer, Michael S., Vilchuck, Konstantin, Bogdanovich, Natalia, Sergeichick, Natalia, Gusina, Nina, Ying Foo, Palmer, Tom, Thompson, Jennifer, Gillman, Matthew W., Smith, George Davey, and Oken, Emily
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BREASTFEEDING , *CARDIOVASCULAR diseases risk factors , *BREASTFEEDING promotion , *METABOLIC syndrome risk factors , *ADIPONECTIN , *BLOOD pressure - Abstract
Background--The duration and exclusivity of breastfeeding in infancy have been inversely associated with future cardiometabolic risk. We investigated the effects of an experimental intervention to promote increased duration of exclusive breastfeeding on cardiometabolic risk factors in childhood. Methods and Results--We followed-up children in the Promotion of Breastfeeding Intervention Trial, a cluster-randomized trial of a breastfeeding promotion intervention based on the World Health Organization/United Nations Children's Fund Baby-Friendly Hospital Initiative. In 1996 to 1997, 17 046 breastfeeding mother-infant pairs were enrolled from 31 Belarusian maternity hospitals and affiliated polyclinics (16 intervention versus 15 control sites); 13 879 (81.4%) children were followed up at 11.5 years, with 13 616 (79.9%) who had fasted and did not have diabetes mellitus. The outcomes were blood pressure; fasting insulin, adiponectin, glucose, and apolipoprotein A1; and the presence of metabolic syndrome. Analysis was by intention to treat, accounting for clustering within hospitals/clinics. The intervention substantially increased breastfeeding duration and exclusivity in comparison with the control arm (43% versus 6% and 7.9% versus 0.6% exclusively breastfed at 3 and 6 months, respectively). Cluster-adjusted mean differences at 11.5 years between experimental versus control groups were as follows: 1.0 mm Hg (95% confidence interval, -1.1 to 3.1) for systolic and 0.8 mm Hg (-0.6 to 2.3) for diastolic blood pressure; -0.1 mmol/L (-0.2 to 0.1) for glucose; 8% (-3% to 34%) for insulin; -0.3 μg/mL (-1.5 to 0.9) for adiponectin; and 0.0 g/L (-0.1 to 0.1) for apolipoprotein A1. The cluster-adjusted odds ratio for metabolic syndrome, comparing experimental versus control groups, was 1.21 (0.85 to 1.72). Conclusions--An intervention to improve breastfeeding duration and exclusivity among healthy term infants did not influence cardiometabolic risk factors in childhood. Clinical Trial Registration--Current Controlled Trials: ISRCTN37687716 (http://www.controlled-trials.com/ISRCTN37687716). URL: http://clinicaltrials.gov. Unique identifier: NCT01561612. [ABSTRACT FROM AUTHOR]
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- 2014
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5. Filter Paper Blood Spot Enzyme Linked Immunoassay for Adiponectin and Application in the Evaluation of Determinants of Child Insulin Sensitivity.
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Martin, Richard M., Patel, Rita, Oken, Emily, Thompson, Jennifer, Zinovik, Alexander, Kramer, Michael S., Vilchuck, Konstantin, Bogdanovich, Natalia, Sergeichick, Natalia, Foo, Ying, and Gusina, Nina
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ENZYME-linked immunosorbent assay , *ADIPONECTIN , *FILTER paper , *CHILDREN'S health , *INSULIN resistance , *BIOMARKERS , *BLOOD sampling , *EPIDEMIOLOGY - Abstract
Background: Adiponectin is an adipocyte-derived hormone that acts as a marker of insulin sensitivity. Bloodspot sampling by fingerstick onto filter paper may increase the feasibility of large-scale studies of the determinants of insulin sensitivity. We first describe the validation of an enzyme-linked immunoassay (ELISA) for quantifying adiponectin from dried blood spots and then demonstrate its application in a large trial (PROBIT). Methods: We quantified adiponectin from 3-mm diameter discs (≈3 µL of blood) punched from dried blood spots obtained from: i) whole blood standards (validation); and ii) PROBIT trial samples (application) in which paediatricians collected blood spots from 13,879 children aged 11.5 years from 31 sites across Belarus. We examined the distribution of bloodspot adiponectin by demographic and anthropometric factors, fasting insulin and glucose. Results: In the validation study, mean intra-assay coefficients of variation (n = 162) were 15%, 13% and 10% for ‘low’ (6.78 µg/ml), ‘medium’ (18.18 µg/ml) and 'high’ (33.13 µg/ml) internal quality control (IQC) samples, respectively; the respective inter-assay values (n = 40) were 23%, 21% and 14%. The correlation coefficient between 50 paired whole bloodspot versus plasma samples, collected simultaneously, was 0.87 (95% CI: 0.78 to 0.93). Recovery of known quantities of adiponectin (between 4.5 to 36 µg/ml) was 100.3–133%. Bloodspot adiponectin was stable for at least 30 months at −80°C. In PROBIT, we successfully quantified fasting adiponectin from dried blood spots in 13,329 of 13,879 (96%) children. Mean adiponectin (standard deviation) concentrations were 17.34 µg/ml (7.54) in boys and 18.41 µg/ml (7.92) in girls and were inversely associated with body mass index, fat mass, triceps and subscapular skin-fold thickness, waist circumference, height and fasting glucose. Conclusions: Bloodspot ELISA is suitable for measuring adiponectin in very small volumes of blood collected on filter paper and can be applied to large-scale studies. [ABSTRACT FROM AUTHOR]
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- 2013
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6. Effects of promoting longer-term and exclusive breastfeeding on adiposity and insulin-like growth factor-I at age 11.5 years: a randomized trial.
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Martin, Richard M, Patel, Rita, Kramer, Michael S, Guthrie, Lauren, Vilchuck, Konstantin, Bogdanovich, Natalia, Sergeichick, Natalia, Gusina, Nina, Foo, Ying, Palmer, Tom, Rifas-Shiman, Sheryl L, Gillman, Matthew W, Smith, George Davey, and Oken, Emily
- Abstract
Importance: Evidence that longer-term and exclusive breastfeeding reduces child obesity risk is based on observational studies that are prone to confounding.Objective: To investigate effects of an intervention to promote increased duration and exclusivity of breastfeeding on child adiposity and circulating insulin-like growth factor (IGF)-I, which regulates growth.Design, Setting, and Participants: Cluster-randomized controlled trial in 31 Belarusian maternity hospitals and their affiliated clinics, randomized into 1 of 2 groups: breastfeeding promotion intervention (n = 16) or usual practices (n = 15). Participants were 17,046 breastfeeding mother-infant pairs enrolled in 1996 and 1997, of whom 13,879 (81.4%) were followed up between January 2008 and December 2010 at a median age of 11.5 years.Intervention: Breastfeeding promotion intervention modeled on the WHO/UNICEF Baby-Friendly Hospital Initiative (World Health Organization/United Nations Children's Fund).Main Outcome Measures: Body mass index (BMI), fat and fat-free mass indices (FMI and FFMI), percent body fat, waist circumference, triceps and subscapular skinfold thicknesses, overweight and obesity, and whole-blood IGF-I. Primary analysis was based on modified intention-to-treat (without imputation), accounting for clustering within hospitals and clinics.Results: The experimental intervention substantially increased breastfeeding duration and exclusivity when compared with the control (43% vs 6% exclusively breastfed at 3 months and 7.9% vs 0.6% at 6 months). Cluster-adjusted mean differences in outcomes at 11.5 years of age between experimental vs control groups were: 0.19 (95% CI, -0.09 to 0.46) for BMI; 0.12 (-0.03 to 0.28) for FMI; 0.04 (-0.11 to 0.18) for FFMI; 0.47% (-0.11% to 1.05%) for percent body fat; 0.30 cm (-1.41 to 2.01) for waist circumference; -0.07 mm (-1.71 to 1.57) for triceps and -0.02 mm (-0.79 to 0.75) for subscapular skinfold thicknesses; and -0.02 standard deviations (-0.12 to 0.08) for IGF-I. The cluster-adjusted odds ratio for overweight/obesity (BMI ≥ 85th vs <85th percentile) was 1.18 (95% CI, 1.01 to 1.39) and for obesity (BMI ≥ 95th vs <85th percentile) was 1.17 (95% CI, 0.97 to 1.41).Conclusions: AND RELEVANCE Among healthy term infants in Belarus, an intervention that succeeded in improving the duration and exclusivity of breastfeeding did not prevent overweight or obesity, nor did it affect IGF-I levels at age 11.5 years. Breastfeeding has many advantages but population strategies to increase the duration and exclusivity of breastfeeding are unlikely to curb the obesity epidemic.Trial Registration: isrctn.org: ISRCTN37687716; and clinicaltrials.gov: NCT01561612. [ABSTRACT FROM AUTHOR]- Published
- 2013
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7. Effects of Promoting Longer-term and Exclusive Breastfeeding on Adiposity and Insulin-like Growth Factor-I at Age 11.5 Years.
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Martin, Richard M., Patel, Rita, Kramer, Michael S., Guthrie, Lauren, Vilchuck, Konstantin, Bogdanovich, Natalia, Sergeichick, Natalia, Gusina, Nina, Foo, Ying, Palmer, Tom, Rifas-Shiman, Sheryl L., Gillman, Matthew W., Smith, George Davey, and Oken, Emily
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RANDOMIZED controlled trials , *BREASTFEEDING , *RISK of childhood obesity , *SOMATOMEDIN C , *GROWTH factors , *BODY mass index , *WAIST circumference , *ADIPOSE tissues , *IMMUNOLOGY - Abstract
The article focuses on a randomized-controlled trial which aims to investigate effects of an intervention to promote increased duration and exclusivity of breastfeeding on child adiposity and circulating insulin-like growth factor (IGF)-I in Belarus. It mentions that the participants of this study included 17,046 breastfeeding mothers enrolled in 1996 and 1997, of whom 13,879 were followed up between January 2008 and December 2010 at a median age of 11.5 years. The main outcome measures included body mass index, percent body fat and waist circumference. The results indicated that breastfeeding has many advantages but population strategies to increase the duration and exclusivity of breastfeeding are unlikely to curb the obesity epidemic.
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- 2013
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8. Filter Paper Blood Spot Enzyme Linked Immunoassay for Insulin and Application in the Evaluation of Determinants of Child Insulin Resistance.
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Martin, Richard M., Patel, Rita, Zinovik, Alexander, Kramer, Michael S., Oken, Emily, Vilchuck, Konstantin, Bogdanovich, Natalia, Sergeichick, Natalia, Gunnarsson, Robert, Grufman, Lisa, Ying Foo, and Gusina, Nina
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INSULIN , *EPIDEMIOLOGY , *ENZYME-linked immunosorbent assay , *ANTHROPOMETRY , *BLOOD - Abstract
Background: In large-scale epidemiology, bloodspot sampling by fingerstick onto filter paper has many advantages, including ease and low costs of collection, processing and transport. We describe the development of an enzyme-linked immunoassay (ELISA) for quantifying insulin from dried blood spots and demonstrate its application in a large trial. Methods: We adapted an existing commercial kit (Mercodia Human Insulin ELISA, 10-1113-01) to quantify insulin from two 3-mm diameter discs (≈6 µL of blood) punched from whole blood standards and from trial samples. Paediatricians collected dried blood spots in a follow-up of 13,879 fasted children aged 11.5 years (interquartile range 11.3-11.8 years) from 31 trial sites across Belarus. We quantified bloodspot insulin levels and examined their distribution by demography and anthropometry. Results: Mean intra-assay (n = 157) coefficients of variation were 15% and 6% for 'low' (6.7 mU/L) and 'high' (23.1 mU/L) values, respectively; the respective inter-assay values (n = 33) were 23% and 11%. The intraclass correlation coefficient between 50 paired whole bloodspot versus serum samples, collected simultaneously, was 0.90 (95% confidence interval 0.85 to 0.95). Bloodspot insulin was stable for at least 31 months at -80°C, for one week at +30°C and following four freeze-thaw cycles. Paediatricians collected a median of 8 blood spots from 13,487 (97%) children. The geometric mean insulin (log standard deviation) concentrations amongst 12,812 children were 3.0 mU/L (1.1) in boys and 4.0 mU/L (1.0) in girls and were positively associated with pubertal stage, measures of central and peripheral adiposity, height and fasting glucose. Conclusions: Our simple and convenient bloodspot assay is suitable for the measurement of insulin in very small volumes of blood collected on filter paper cards and can be applied to large-scale epidemiology studies of the early-life determinants of circulating insulin. [ABSTRACT FROM AUTHOR]
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- 2012
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9. A Homozygous R152W Mutation is Associated with a Relatively Attenuated Phenotype of Mucopolysaccharidosis Type VI
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Jurecka, Agnieszka, Cimbalistiene, Loreta, Gusina, Nina, Róźdźyńska-Swiątkowska, Agnieszka, and Tylki-Szymańska, Anna
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- 2012
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10. Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia
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Jurecka, Agnieszka, Piotrowska, Ewa, Cimbalistiene, Loreta, Gusina, Nina, Sobczyńska, Agnieszka, Czartoryska, Barbara, Czerska, Kamila, Õunap, Katrin, Węgrzyn, Grzegorz, and Tylki-Szymańska, Anna
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MUCOPOLYSACCHARIDOSIS , *N-acetylgalactosamine-4-sulfatase genetics , *GENETIC mutation , *PHENOTYPES , *MISSENSE mutation , *GENETIC testing - Abstract
Abstract: Mucopolysaccharidosis VI (MPS VI) is a rare autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-4-sulfatase (ARSB). Over 130 ARSB gene mutations have been identified thus far and most mutations are unique to individual families. We aimed to analyze the spectrum of mutations in the ARSB gene responsible for the disorder in Poland, Belarus and Baltic States. Twenty one families with MPS VI patients, in whom diagnosis was confirmed biochemically and enzymatically, were studied. Direct sequencing of patient genomic DNA was used to identify ARSB mutations. In total, fourteen different disease-causing mutations were found. Three novel mutations included insertion c.375_376insT, a missense mutation c.499G>A (p.G167R) and deletion/insertion c.750_754delinsCCTGAAGTCAAG. We also report 11 previously described mutations (p.A33V, p.W57C, p.Q88X, p.T92K, p.Q97X, p.R152W, p.R160Q, p.R160X, p.Y210C, p.Y266S, p.G302R). The mutation p.R152W was present at a high prevalence of 50% (21/42) the mutated alleles in this group of patients. High prevalence of p.R152W mutation in Poland, Belarus and Baltic States indicates a possible founder effect and suggests that screening for this mutation may be appropriate in MPS VI patients from this region. Our study has also provided evidence to support genotype–phenotype correlation. [Copyright &y& Elsevier]
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- 2012
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