Lenuta Balaci
Doctor
Area of interest:
Most significant publications:
2020
Piras, D.; Masala, M.; Delitala, A.; Urru, S. A. M.; Curreli, N.; Balaci, L.; Ferreli, L. P.; Loi, F.; Atzeni, A.; Cabiddu, G.; Racugno, W.; Ventura, L.; Zoledziewska, M.; Steri, M.; Fiorillo, E.; Pilia, M. G.; Schlessinger, D.; Cucca, F.; Rule, A. D.; Pani, A.
Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general population Journal Article
In: Nephrol Dial Transplant, 35 (4), pp. 640–647, 2020.
@article{pmid30169833b,
title = {Kidney size in relation to ageing, gender, renal function, birthweight and chronic kidney disease risk factors in a general population},
author = { D. Piras and M. Masala and A. Delitala and S. A. M. Urru and N. Curreli and L. Balaci and L. P. Ferreli and F. Loi and A. Atzeni and G. Cabiddu and W. Racugno and L. Ventura and M. Zoledziewska and M. Steri and E. Fiorillo and M. G. Pilia and D. Schlessinger and F. Cucca and A. D. Rule and A. Pani},
year = {2020},
date = {2020-01-01},
journal = {Nephrol Dial Transplant},
volume = {35},
number = {4},
pages = {640--647},
abstract = {The relationship of kidney size to ageing, kidney function and kidney disease risk factors is not fully understood. Ultrasound length and parenchymal kidney volume were determined from a population-based sample of 3972 Sardinians (age range 18-100 years). We then identified the subset of 2256 'healthy' subjects to define age- and sex-specific reference ranges (2.5-97.5 percentile) of kidney volume. Logistic regression (accounting for family clustering) was used to identify the clinical characteristics associated with abnormally large kidneys or abnormally small kidneys. In the healthy subset, kidney volume and length increased up to the fourth to fifth decade of life followed by a progressive decrease in men, whereas there was a gradual kidney volume decrease throughout the lifespan of women. In the whole sample, independent predictors of lower kidney volume (<2.5 percentile for age and sex) were male sex, low body mass index, short height, low waist:hip ratio and high serum creatinine (SCr); the independent predictors of larger kidney volume (>97.5 percentile for age and sex) were younger age, female sex, diabetes, obesity, high height, high waist:hip ratio and lower SCr. Estimated heritability for kidney volume was 15%, and for length 27%; kidney volume correlated strongly with birthweight. Overall, in a general healthy population, kidney measures declined with age differently in men and women. The determinants of kidney parenchymal volume include genetic factors and modifiable clinical factors.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
The relationship of kidney size to ageing, kidney function and kidney disease risk factors is not fully understood. Ultrasound length and parenchymal kidney volume were determined from a population-based sample of 3972 Sardinians (age range 18-100 years). We then identified the subset of 2256 'healthy' subjects to define age- and sex-specific reference ranges (2.5-97.5 percentile) of kidney volume. Logistic regression (accounting for family clustering) was used to identify the clinical characteristics associated with abnormally large kidneys or abnormally small kidneys. In the healthy subset, kidney volume and length increased up to the fourth to fifth decade of life followed by a progressive decrease in men, whereas there was a gradual kidney volume decrease throughout the lifespan of women. In the whole sample, independent predictors of lower kidney volume (<2.5 percentile for age and sex) were male sex, low body mass index, short height, low waist:hip ratio and high serum creatinine (SCr); the independent predictors of larger kidney volume (>97.5 percentile for age and sex) were younger age, female sex, diabetes, obesity, high height, high waist:hip ratio and lower SCr. Estimated heritability for kidney volume was 15%, and for length 27%; kidney volume correlated strongly with birthweight. Overall, in a general healthy population, kidney measures declined with age differently in men and women. The determinants of kidney parenchymal volume include genetic factors and modifiable clinical factors.
Sidore, C.; Orrù, V.; Cocco, E.; Steri, M.; Inshaw, J. R.; Pitzalis, M.; Mulas, A.; McGurnaghan, S.; Frau, J.; Porcu, E.; Busonero, F.; Dei, M.; Lai, S.; Sole, G.; Virdis, F.; Serra, V.; Poddie, F.; Delitala, A.; Marongiu, M.; Deidda, F.; Pala, M.; Floris, M.; Masala, M.; Onengut-Gumuscu, S.; Robertson, C. C.; Leoni, L.; Frongia, A.; Ricciardi, M. R.; Chessa, M.; Olla, N.; Lovicu, M.; Loizedda, A.; Maschio, A.; Mereu, L.; Ferrigno, P.; Curreli, N.; Balaci, L.; Loi, F.; Ferreli, L. A.; Pilia, M. G.; Pani, A.; Marrosu, M. G.; Abecasis, G. R.; Rich, S. S.; Colhoun, H.; Todd, J. A.; Schlessinger, D.; Fiorillo, E.; Cucca, F.; Zoledziewska, M.
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity Journal Article
In: Mult Scler, pp. 1352458520963937, 2020.
@article{pmid33566725,
title = {PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity},
author = { C. Sidore and V. Orrù and E. Cocco and M. Steri and J. R. Inshaw and M. Pitzalis and A. Mulas and S. McGurnaghan and J. Frau and E. Porcu and F. Busonero and M. Dei and S. Lai and G. Sole and F. Virdis and V. Serra and F. Poddie and A. Delitala and M. Marongiu and F. Deidda and M. Pala and M. Floris and M. Masala and S. Onengut-Gumuscu and C. C. Robertson and L. Leoni and A. Frongia and M. R. Ricciardi and M. Chessa and N. Olla and M. Lovicu and A. Loizedda and A. Maschio and L. Mereu and P. Ferrigno and N. Curreli and L. Balaci and F. Loi and L. A. Ferreli and M. G. Pilia and A. Pani and M. G. Marrosu and G. R. Abecasis and S. S. Rich and H. Colhoun and J. A. Todd and D. Schlessinger and E. Fiorillo and F. Cucca and M. Zoledziewska},
year = {2020},
date = {2020-01-01},
journal = {Mult Scler},
pages = {1352458520963937},
abstract = {Defective alleles within the PRF1 gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder characterized by massive release of cytokines-cytokine storm. The aim of this study was to determine the function of hypomorph PRF1:p.A91V g.72360387 G > A on multiple sclerosis (MS) and type 1 diabetes (T1D). We cross-compare the association data for PRF1:p.A91V mutation derived from GWAS on adult MS and pediatric T1D in Sardinians. The novel association with T1D was replicated in metanalysis in 12,584 cases and 17,692 controls from Sardinia, the United Kingdom, and Scotland. To dissect this mutation function, we searched through the coincident association immunophenotypes in additional set of general population Sardinians. We report that PRF1:p.A91V, is associated with increase of lymphocyte levels, especially within the cytotoxic memory T-cells, at general population level with reduced interleukin 7 receptor expression on these cells. The minor allele increased risk of MS, in 2903 cases and 2880 controls from Sardinia p = 2.06 × 10-4, odds ratio OR = 1.29, replicating a previous finding, whereas it protects from T1D p = 1.04 × 10-5},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Defective alleles within the PRF1 gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder characterized by massive release of cytokines-cytokine storm. The aim of this study was to determine the function of hypomorph PRF1:p.A91V g.72360387 G > A on multiple sclerosis (MS) and type 1 diabetes (T1D). We cross-compare the association data for PRF1:p.A91V mutation derived from GWAS on adult MS and pediatric T1D in Sardinians. The novel association with T1D was replicated in metanalysis in 12,584 cases and 17,692 controls from Sardinia, the United Kingdom, and Scotland. To dissect this mutation function, we searched through the coincident association immunophenotypes in additional set of general population Sardinians. We report that PRF1:p.A91V, is associated with increase of lymphocyte levels, especially within the cytotoxic memory T-cells, at general population level with reduced interleukin 7 receptor expression on these cells. The minor allele increased risk of MS, in 2903 cases and 2880 controls from Sardinia p = 2.06 × 10-4, odds ratio OR = 1.29, replicating a previous finding, whereas it protects from T1D p = 1.04 × 10-5
2014
Delitala, A. P.; Pilia, M. G.; Ferreli, L.; Loi, F.; Curreli, N.; Balaci, L.; Schlessinger, D.; Cucca, F.
Prevalence of unknown thyroid disorders in a Sardinian cohort Journal Article
In: Eur J Endocrinol, 171 (1), pp. 143–149, 2014.
@article{pmid24917664,
title = {Prevalence of unknown thyroid disorders in a Sardinian cohort},
author = { A. P. Delitala and M. G. Pilia and L. Ferreli and F. Loi and N. Curreli and L. Balaci and D. Schlessinger and F. Cucca},
year = {2014},
date = {2014-07-01},
journal = {Eur J Endocrinol},
volume = {171},
number = {1},
pages = {143--149},
abstract = {To assess thyroid function, the presence of thyroid antibodies, as well as the presence of goiter and/or nodules in subjects without a prior diagnosis of thyroid disorders, in a region with mild to moderate iodine deficiency. This cross-sectional study is based on data obtained from first and third visits of participants in the Sardinian survey. We performed two different analyses. In one, we assessed the prevalence of unknown thyroid dysfunctions among 6252 subjects who had a medical examination and blood collection for assays of thyrotropin, free thyroxine, and antibodies against thyroperoxidase (AbTPO) and against thyroglobulin (AbTG). In a second analysis, we evaluated the frequency of undiagnosed goiter and nodules among 3377 subjects who had a thyroid ultrasound scan. Subjects were excluded if they had a previous history of thyroid disorders or presence of goiter and/or nodules, or thyroid surgery, or if they were taking drugs that could impair thyroid function. We found a low prevalence of overt thyroid dysfunction (hyperthyroidism 0.4% and hypothyroidism 0.7%). The rates of subclinical hypothyroidism and hyperthyroidism were 4.7 and 2.4% respectively. Almost 16% of participants were positive for at least one antibody and 5.2% for both AbTG and AbTPO. Nodules were detected in 17.4% of subjects and the prevalence of goiter was 22.1%. Undiagnosed biochemical thyroid dysfunctions, unknown nodules, and goiter were common in subjects living in a mild to moderate iodine-deficient area. In this community, thyroid disorders often go undetected and screening could be reasonable in subjects at a higher risk.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
To assess thyroid function, the presence of thyroid antibodies, as well as the presence of goiter and/or nodules in subjects without a prior diagnosis of thyroid disorders, in a region with mild to moderate iodine deficiency. This cross-sectional study is based on data obtained from first and third visits of participants in the Sardinian survey. We performed two different analyses. In one, we assessed the prevalence of unknown thyroid dysfunctions among 6252 subjects who had a medical examination and blood collection for assays of thyrotropin, free thyroxine, and antibodies against thyroperoxidase (AbTPO) and against thyroglobulin (AbTG). In a second analysis, we evaluated the frequency of undiagnosed goiter and nodules among 3377 subjects who had a thyroid ultrasound scan. Subjects were excluded if they had a previous history of thyroid disorders or presence of goiter and/or nodules, or thyroid surgery, or if they were taking drugs that could impair thyroid function. We found a low prevalence of overt thyroid dysfunction (hyperthyroidism 0.4% and hypothyroidism 0.7%). The rates of subclinical hypothyroidism and hyperthyroidism were 4.7 and 2.4% respectively. Almost 16% of participants were positive for at least one antibody and 5.2% for both AbTG and AbTPO. Nodules were detected in 17.4% of subjects and the prevalence of goiter was 22.1%. Undiagnosed biochemical thyroid dysfunctions, unknown nodules, and goiter were common in subjects living in a mild to moderate iodine-deficient area. In this community, thyroid disorders often go undetected and screening could be reasonable in subjects at a higher risk.
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