9 results on '"Abrigo E"'
Search Results
2. Engineering provitamin A synthesis pathway with β-carotene metabolism in rice endosperm of a restorer line BR827R
- Author
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Rehana, S., Baishakh, N., Datta, K., Oliva, N., Abrigo, E., Mazid, M.A., Shah-E-Alam, Uddin,M.R. and Datta, S.K.
- Subjects
β-carotene, Biolistic transformation, Provitamin A, Restorer line ,food and beverages - Abstract
Vitamin A deficiency (VAD) is a serious public health problem in South Asia particularly in Bangladesh. Indica rice as a major staple in the country completely lacks vitamin A or compounds with provitamin A activity after milling. A combination of transgenes has been introduced enabling biosynthesis of provitamin A in the endosperm of a restorer line using biolistic system of transformation. The rice seed-specific glutelin promoter (Gt-1 P) was used to drive the expression of phytone synthase (psy), while lycopene b-cyclase (lcy) and phytoenedesaturase (crtI), fused to the transit peptide sequence of the pea-Rubisco small subunit, were driven by the constitutive cauliflower mosaic virus promoter (CaMV35s P). Transgenic plants were recovered through selection with CaMV35sP driven hph (hygromycinphosphotransferase) gene. Molecular analysis demonstrated stable integration and expression of the transgenes. The variable segregation pattern in T1 generation indicated single to multiple insertions of the transgenes in the genome. This is the first report of the development of a transgenic restorer line with carotenogenic pathway into the endosperm for use of hybrid rice improvement.
- Published
- 2018
3. P055 IgG4 negative autoimmune pancreatitis and autoimmune sclerosing cholangitis in ulcerative colitis: a rare association
- Author
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Pinon, L., primary, Camelli, V., additional, Abrigo, E., additional, Pizzol, A., additional, David, E., additional, De Angelis, C.G., additional, Cisarò, F., additional, and Calvo, P.L., additional
- Published
- 2018
- Full Text
- View/download PDF
4. Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia
- Author
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Carla Bizzarri, Rita Ortolano, Silvia Einaudi, Mariangela Chiarito, Tommaso Aversa, Mariacarolina Salerno, Federico Baronio, Laura Guazzarotti, Angela Alibrandi, Maria Felicia Faienza, Domenico Corica, Donatella Capalbo, Barbara Baldini Ferroli, Enrica Abrigo, Malgorzata Wasniewska, Anna Grandone, Antonio Balsamo, Antonietta Spinuzza, Gianni Russo, Letteria Morabito, Wasniewska, M. G., Morabito, L. A., Baronio, F., Einaudi, S., Salerno, M., Bizzarri, C., Russo, G., Chiarito, M., Grandone, A., Guazzarotti, L., Spinuzza, A., Corica, D., Ortolano, R., Balsamo, A., Abrigo, E., Baldini Ferroli, B., Alibrandi, A., Capalbo, D., Aversa, T., and Faienza, M. F.
- Subjects
Adult ,Male ,medicine.medical_specialty ,Hydrocortisone ,Pediatric endocrinology ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,21-hydroxylase deficiency ,Models, Biological ,Adult height ,03 medical and health sciences ,0302 clinical medicine ,Endocrinology ,Internal medicine ,medicine ,Humans ,Congenital adrenal hyperplasia ,Child ,Retrospective Studies ,030219 obstetrics & reproductive medicine ,Adrenal Hyperplasia, Congenital ,business.industry ,21-hydroxylase deficiency, Adult height, Growth and puberty, Nonclassical 21-hydroxylase deficiency, Severity of phenotype ,Bone age ,Stepwise regression ,medicine.disease ,Body Height ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Bone maturation ,Nonclassical 21-hydroxylase deficiency ,Population study ,Growth and puberty ,Female ,business ,Severity of phenotype ,medicine.drug - Abstract
Background: Children with nonclassical congenital adrenal hyperplasia (NCCAH) often present increased growth velocity secondary to elevation of adrenal androgens that accelerates bone maturation and might compromise adult height (AH). Objective: The aim of the study was to analyze prognostic factors affecting growth trajectory (GT) and AH in children with NCCAH. Methods: The study was a retrospective, multicentric study. The study population consisted of 192 children with a confirmed molecular diagnosis of NCCAH, followed by pediatric endocrinology centers from diagnosis up to AH. Clinical records were collected and analyzed. AH (standard deviation score; SDS), pubertal growth (PG) (cm), GT from diagnosis to AH (SDS), and AH adjusted to target height (TH) (AH-TH SDS) were evaluated as outcome indicators using stepwise linear regression models. Results: The stepwise linear regression analysis showed that AH and AH-TH were significantly related to chronological age (CA) (p = 0.008 and 0.016), bone age (BA)/CA ratio (p = 0.004 and 0.001), height (H) (p < 0.001 for both parameters) at NCCAH diagnosis, and TH (p = 0.013 and p = 0.002), as physiologically observed, and was positively related to height (p = 0.027), negatively to BMI (p = 0.001) and BA/CA ratio (p = 0.001) at NCCAH diagnosis. Gender, genotype, biochemical data, and hydrocortisone treatment did not significantly impair height outcomes of these NCCAH children. Conclusions: The results of this study suggest that AH and GT of NCCAH patients are mainly affected by the severity of phenotype (CA, BA/CA ratio, and H) at the time of diagnosis.
- Published
- 2020
5. Adrenal insufficiency management in the pediatric emergency setting and risk factors for adrenal crisis development.
- Author
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Abrigo E, Munarin J, Bondone C, Tuli G, Castagno E, de Sanctis L, and Matarazzo P
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- Humans, Child, Retrospective Studies, Risk Factors, Acute Disease, Adrenal Insufficiency diagnosis, Adrenal Insufficiency therapy, Gastroenteritis complications
- Abstract
Background: In patients with adrenal insufficiency (AI), adrenal crisis (AC) represents a clinical emergency. Early recognition and prompt management of AC or AC-risk conditions in the Emergency Department (ED) can reduce critical episodes and AC-related outcomes. The aim of the study is to report the clinical and biochemical characteristics of AC presentation to improve their timely recognition and proper management in a ED setting., Methods: Single-centre, retrospective, observational study on pediatric patients followed at the Department of Pediatric Endocrinology of Regina Margherita Children's Hospital of Turin for primary AI (PAI) and central AI (CAI)., Results: Among the 89 children followed for AI (44 PAI, 45 CAI), 35 patients (21 PAI, 14 CAI) referred to the PED, for a total of 77 accesses (44 in patients with PAI and 33 with CAI). The main causes of admission to the PED were gastroenteritis (59.7%), fever, hyporexia or asthenia (45.5%), neurological signs and respiratory disorders (33.8%). The mean sodium value at PED admission was 137.2 ± 1.23 mmol/l and 133.3 ± 1.46 mmol/l in PAI and CAI, respectively (p = 0.05). Steroids administration in PED was faster in patients with CAI than in those with PAI (2.75 ± 0.61 and 3.09 ± 1.47 h from PED access, p = 0.83). Significant factors related to the development of AC were signs of dehydration at admission (p = 0.027) and lack of intake or increase of usual steroid therapy at home (p = 0.059). Endocrinological consulting was requested in 69.2% of patients with AC and 48.4% of subjects without AC (p = 0.032)., Conclusion: children with AI may refer to the PED with an acute life-threatening condition that needs prompt recognition and management. These preliminary data indicate how critical the education of children and families with AI is to improve the management at home, and how fundamental the collaboration of the pediatric endocrinologist with all PED personnel is in raising awareness of early symptoms and signs of AC to anticipate the proper treatment and prevent or reduce the correlated serious events., (© 2023. The Author(s).)
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- 2023
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6. The Importance of RSV Epidemiological Surveillance: A Multicenter Observational Study of RSV Infection during the COVID-19 Pandemic.
- Author
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Pruccoli G, Castagno E, Raffaldi I, Denina M, Barisone E, Baroero L, Timeus F, Rabbone I, Monzani A, Terragni GM, Lovera C, Brach Del Prever A, Manzoni P, Barbaglia M, Roasio L, De Franco S, Calitri C, Lupica M, Felici E, Marciano C, Santovito S, Militerno G, Abrigo E, Curtoni A, Quarello P, Bondone C, and Garazzino S
- Subjects
- Child, Humans, Adolescent, Child, Preschool, SARS-CoV-2, Pandemics, Emergency Service, Hospital, COVID-19 epidemiology, Respiratory Syncytial Virus Infections epidemiology
- Abstract
The restrictive measures adopted worldwide against SARS-CoV-2 produced a drastic reduction in respiratory pathogens, including RSV, but a dramatic rebound was thereafter reported. In this multicenter retrospective observational study in 15 Pediatric Emergency Departments, all children <3 years old with RSV infection admitted between 1 September and 31 December 2021 were included and compared to those admitted in the same period of 2020 and 2019. The primary aim was to evaluate RSV epidemiology during and after the COVID-19 pandemic peak. The secondary aims were to evaluate the clinical features of children with RSV infection. Overall, 1015 children were enrolled: 100 in 2019, 3 in 2020 and 912 in 2021. In 2019, the peak was recorded in December, and in 2021, it was recorded in November. Comparing 2019 to 2021, in 2021 the median age was significantly higher and the age group 2-3 years was more affected. Admissions were significantly higher in 2021 than in 2020 and 2019, and the per-year hospitalization rate was lower in 2021 (84% vs. 93% in 2019), while the duration of admissions was similar. No difference was found in severity between 2019-2020-2021. In conclusion, after the COVID-19 pandemic, an increase in RSV cases in 2021 exceeding the median seasonal peak was detected, with the involvement of older children, while no difference was found in severity.
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- 2023
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7. Oestrogenic Activity in Girls with Signs of Precocious Puberty as Exposure Biomarker to Endocrine Disrupting Chemicals: A Pilot Study.
- Author
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Gea M, Toso A, Bentivegna GN, Buganza R, Abrigo E, De Sanctis L, and Schilirò T
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- Female, Humans, Pilot Projects, Estradiol, Estrone, Biomarkers, Endocrine Disruptors toxicity, Puberty, Precocious chemically induced
- Abstract
The relationship between endocrine disrupting chemical (EDC) exposure and Precocious Puberty (PP) was investigated in this pilot study, involving girls with signs of PP (P) and pre-pubertal girls (C). Risk factors for PP were assessed through questionnaires, while 17β-oestradiol (E2) levels and oestrogenic activity were quantified on sera. The oestrogenic activity, expressed as E2 equivalent concentration (EEQ), was applied as EDC exposure biomarker. Questionnaires showed a low EDC knowledge, a high EDC exposure, and a potential relationship between some habits at risk for EDC exposure and PP. EEQs were similar between C and P; however, they were significantly higher in girls living in an urban environment than in girls living in a rural environment, suggesting a potential higher EDC exposure in cities. The results of this pilot study highlighted the need to raise awareness on EDCs and can be considered a starting point to clarify the relationship between EDC exposure and PP.
- Published
- 2022
- Full Text
- View/download PDF
8. Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia.
- Author
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Wasniewska MG, Morabito LA, Baronio F, Einaudi S, Salerno M, Bizzarri C, Russo G, Chiarito M, Grandone A, Guazzarotti L, Spinuzza A, Corica D, Ortolano R, Balsamo A, Abrigo E, Baldini Ferroli B, Alibrandi A, Capalbo D, Aversa T, and Faienza MF
- Subjects
- Adrenal Hyperplasia, Congenital drug therapy, Adrenal Hyperplasia, Congenital pathology, Adult, Child, Child, Preschool, Female, Humans, Hydrocortisone administration & dosage, Male, Retrospective Studies, Adrenal Hyperplasia, Congenital physiopathology, Body Height, Models, Biological
- Abstract
Background: Children with nonclassical congenital adrenal hyperplasia (NCCAH) often present increased growth velocity secondary to elevation of adrenal androgens that accelerates bone maturation and might compromise adult height (AH)., Objective: The aim of the study was to analyze prognostic factors affecting growth trajectory (GT) and AH in children with NCCAH., Methods: The study was a retrospective, multicentric study. The study population consisted of 192 children with a confirmed molecular diagnosis of NCCAH, followed by pediatric endocrinology centers from diagnosis up to AH. Clinical records were collected and analyzed. AH (standard deviation score; SDS), pubertal growth (PG) (cm), GT from diagnosis to AH (SDS), and AH adjusted to target height (TH) (AH-TH SDS) were evaluated as outcome indicators using stepwise linear regression models., Results: The stepwise linear regression analysis showed that AH and AH-TH were significantly related to chronological age (CA) (p = 0.008 and 0.016), bone age (BA)/CA ratio (p = 0.004 and 0.001), height (H) (p < 0.001 for both parameters) at NCCAH diagnosis, and TH (p = 0.013 and <0.001). PG was higher in males than in females (22.59 ± 5.74 vs. 20.72 ± 17.4 cm, p = 0.002), as physiologically observed, and was positively related to height (p = 0.027), negatively to BMI (p = 0.001) and BA/CA ratio (p = 0.001) at NCCAH diagnosis. Gender, genotype, biochemical data, and hydrocortisone treatment did not significantly impair height outcomes of these NCCAH children., Conclusions: The results of this study suggest that AH and GT of NCCAH patients are mainly affected by the severity of phenotype (CA, BA/CA ratio, and H) at the time of diagnosis., (© 2020 S. Karger AG, Basel.)
- Published
- 2020
- Full Text
- View/download PDF
9. Severe arterial hypertension and hyperandrogenism in a boy: a rare case of catecholamine- and β-HCG-secreting pheochromocytoma.
- Author
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Chiale F, Abrigo E, Lonati L, Di Rosa G, Morra I, Peruzzi L, and Einaudi S
- Subjects
- Adrenal Gland Neoplasms metabolism, Adrenalectomy, Child, Humans, Hyperandrogenism etiology, Hyperandrogenism surgery, Hypertension etiology, Hypertension surgery, Male, Pheochromocytoma metabolism, Prognosis, Adrenal Gland Neoplasms complications, Catecholamines metabolism, Chorionic Gonadotropin, beta Subunit, Human metabolism, Hyperandrogenism pathology, Hypertension pathology, Pheochromocytoma complications, Severity of Illness Index
- Abstract
Background Pheochromocytomas (PCCs) and paragangliomas (PGLs) are known to physicians as the "great mimickers" because of their variable presentation, especially in the pediatric population. Rarely, they co-secrete other hormones. Case presentation An 11-year-old boy presented with severe hypertension (HTN) with cardiac target organ damage. Signs of genital and cutaneous androgenization were observed, but the gonadal volume was prepubertal (2 mL). Urine normetanephrine and norepinephrine levels were elevated. Increased beta-human chorionic gonadotropin (β-HCG) and pubertal testosterone values with suppressed values of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) suggested an androgenization secondary to HCG hyperproduction. Imaging revealed a right adrenal mass, suggestive for PCC. Histopathology confirmed a PCC with positive staining for β-HCG. Postoperative resolution of symptoms of β-HCG and catecholamine excess and normalization of hormonal levels confirmed the diagnosis. Conclusions Ectopic hormone secretion from PCC is possible, even if rare. Signs and symptoms attributable to ectopic hormones should be investigated in PCC patients. To date, this is the first case of a β-HCG-secreting PCC.
- Published
- 2019
- Full Text
- View/download PDF
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