TANIA APARECIDA SARTORI SANCHEZ BACHEGA
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder
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- Editorial: Molecular -genetic causes underlying primary adrenal insufficiency: Current insights into diagnosis and treatment(2022) V, Maria Candida B. Fragoso; BACHEGA, Tania A. S. S.; DAIN, Liliana
- Low Adrenomedullary Function Predicts Acute Illness in Infants With Classical Congenital Adrenal Hyperplasia(2022) WEBER, Jonathan; TANAWATTANACHAROEN, Veeraya K.; SEAGROVES, Amy; LIANG, Mark C.; KOPPIN, Christina M.; ROSS, Heather M.; BACHEGA, Tania A. S. S.; GEFFNER, Mitchell E.; SERRANO-GONZALEZ, Monica; BHULLAR, Gagandeep; KIM, Mimi S.Context: Youth with classical congenital adrenal hyperplasia (CAH) exhibit abnormal adrenomedullary function with decreased epinephrine levels noted in newborns and young infants. Little is known about how this relates to morbidity during the first year of life. Objective: This work aimed to study plasma epinephrine levels in infants with classical CAH and examine the clinical significance of epinephrine deficiency in the first year of life. Methods: This prospective cohort study comprised participants recruited from a pediatric tertiary care center: 36 infants with classical CAH due to 21-hydroxylase deficiency and 27 age-matched unaffected controls with congenital hypothyroidism. Main outcome measures included plasma epinephrine levels (N=27), CYP21A2 genotype (N=15), and incidence of acute illnesses from birth to age 1 year (N=28). Results: Epinephrine levels in CAH infants independently predicted illness incidence in the first year of life (beta=-0.018, R=-0.45, P=.02) and were negatively correlated with 17-hydroxyprogesterone at diagnosis (R=-0.51, P=.007). Infants with salt-wasting CAH exhibited lower epinephrine levels as newborns than simple-virilizing infants (P=.02). CAH patients had lower epinephrine as newborns than did controls (P=.007) and showed decreases in epinephrine from birth to age 1 year (P=.04). Null genotype was associated with lower newborn epinephrine and more illness in the first year of life, compared to less severe mutation categories. Conclusion: Lower epinephrine levels are associated with increased risk of illness among CAH infants. While not currently part of clinical standard of care, measuring epinephrine levels and assessing genotype may help predict acute illness in the first year of life.
conferenceObject An International Study of the Association between Local Health Care Resources and Acute Adrenal Insufficiency Events in Children with Congenital Adrenal Hyperplasia(2022) TSERETOPOULOU, Xanthippi; ALI, Salma R.; BRYCE, Jillian; NAVODA, Atapattu; BIRKEBAEK, Niels H.; BARONIO, Federico; BONFIG, Walter; GRINTEN, Hedi L. Claahsen-van der; COOLS, Martine; DARENDELILER, Feyza; POYRAZOGLU, Sukran; SANCTIS, Luisa de; ELSEDFY, Heba; FINKEN, Martijn J. J.; FLUCK, Christa E.; GEVERS, Evelien; KORBONITS, Marta; GURAN, Tulay; GUVEN, Ayla; HUGHES, Ieuan A.; TADOKORO-CUCCARO, Rieko; THANKAMONY, Ajay; IOTOVA, Violeta; KRONE, Ruth; LICHIARDOPOL, Corina; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.; MIRANDA, Mirela C.; MILENKOVIC, Tatjana; MOHNIKE, Klaus; NORDENSTROM, Anna; KAMP, Hetty J. van der; AHMED, Syed Faisal- Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure(2022) NEUMANN, Uta; LINDE, Annelieke van der; KRONE, Ruth E.; KRONE, Nils P.; GUVEN, Ayla; GURAN, Tulay; ELSEDFY, Heba; POYRAZOGLU, Sukran; DARENDELILER, Feyza; BACHEGA, Tania A. S. S.; BALSAMO, Antonio; HANNEMA, Sabine E.; BIRKEBAEK, Niels; VIEITES, Ana; THANKAMONY, Ajay; COOLS, Martine; MILENKOVIC, Tatjana; BONFIG, Walter; COSTA, Eduardo Correa; ATAPATTU, Navoda; VRIES, Liat de; GUARAGNA-FILHO, Guilherme; KORBONITS, Marta; MOHNIKE, Klaus; BRYCE, Jillian; AHMED, S. Faisal; VOET, Bernard; BLANKENSTEIN, Oliver; GRINTEN, Hedi L. Claahsen-van derObjectives: International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed. Aim: To investigate the current use of salt supplementation, fludrocortisone (FC) and hydrocortisone (HC) dosage as well as weight, height, BMI and blood pressure (BP) in CAH children aged 0-3 years. Methods: Retrospective multicentre analysis using data from the I-CAH registry. Salt-treated (ST) and non-salt-treated (NST) children were compared regarding FC and HC dosage, weight, height and BP at 0, 3, 6, 9, 12, 18, 24, 30, and 36 months. Results: We analysed 2483 visits of 331 patients born after year 2000 in 13 countries (male, n = 145) with 203 ST patients (61%). NST children had significantly higher FC dosages at 1.5-4.5 months and higher HC dosages until 1.5 months of age. No differences in weight, length and BP between subgroups were observed. Children of the whole cohort showed increased BMI-SDS during the study period and about half of the reported BP readings were >P95. Conclusion: In children treated with additional salt supplementation, FC and HC dosages are lower during the first months of life but without differences in weight, length and BP until 3 years of age compared to NST children. All children showed an increase in BMI-SDS and a high rate of BP readings >P95 until 3 years, indicating the start of weight gain and negative effects on blood pressure already in very early life.
- Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry(2022) LAWRENCE, Neil; BACILA, Irina; DAWSON, Jeremy; BRYCE, Jillian; ALI, Salma R.; AKKER, Erica L. T. van den; BACHEGA, Tania A. S. S.; BARONIO, Federico; BIRKEBAEK, Niels H.; BONFIG, Walter; GRINTEN, Hedi C. van der; COSTA, Eduardo C.; VRIES, Liat de; ELSEDFY, Heba; GUVEN, Ayla; HANNEMA, Sabine; IOTOVA, Violeta; KAMP, Hetty J. van der; LEON, Maria C.; LICHIARDOPOL, Corina R.; MILENKOVIC, Tatjana; NEUMANN, Uta; NORDENSTROM, Ana; POYRAZOGLU, Sukran; PROBST-SCHEIDEGGER, Ursina; SANCTIS, Luisa De; TADOKORO-CUCCARO, Rieko; THANKAMONY, Ajay; VIEITES, Ana; YAVAS, Zehra; AHMED, Syed Faisal; KRONE, NilsObjective Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4). Design Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries. Patients Pseudonymized data from children with 21-hydroxylase deficiency (21OHD) recorded in the International CAH Registry. Measurements Assessments between January 2000 and October 2020 in patients prescribed HC were reviewed to summarise biomarkers 17OHP and D4 and HC dose. Longitudinal assessment of measures was carried out using linear mixed-effects models (LMEM). Results Cohort of 345 patients, 52.2% female, median age 4.3 years (interquartile range: 3.1-9.2) were taking a median 11.3 mg/m(2)/day (8.6-14.4) of HC. Median 17OHP was 35.7 nmol/l (3.0-104.0). Median D4 under 12 years was 0 nmol/L (0-2.0) and above 12 years was 10.5 nmol/L (3.9-21.0). There were significant differences in biomarker values between centres (p < 0.05). Correlation between D4 and 17OHP was good in multiple regression with age (p < 0.001, R-2 = 0.29). In longitudinal assessment, 17OHP levels did not change with age, whereas D4 levels increased with age (p < 0.001, R-2 = 0.08). Neither biomarker varied directly with dose or weight (p > 0.05). Multivariate LMEM showed HC dose decreasing by 1.0 mg/m(2)/day for every 1 point increase in weight standard deviation score. Discussion Registry data show large variability in 17OHP and D4 between centres. 17OHP correlates with D4 well when accounting for age. Prescribed HC dose per body surface area decreased with weight gain.
conferenceObject Blood pressure (BP) status in Congenital Adrenal Hyperplasia (CAH) - longitudinal analysis of real world data from the I-CAH registry(2022) LAWRENCE, Neil R.; BACILA, Irina; DAWSON, Jeremy; ALI, Salma R.; AKKER, Erica L. T. van den; BACHEGA, Tania Aparecida Sartori Sanchez; BARONIO, Federico; BIRKEBAEK, Niels Holtum; BONFIG, Walter; GRINTEN, Claahsen van der; COOLS, Martine; COSTA, Eduardo Correa; VRIES, Liat de; FLUCK, Christa; GAZDAGH, Gabriella; GUVEN, Ayla; HANNEMA, Sabine; IOTOVA, Violeta; KAMP, Hetty J. van der; KRONE, Ruth; LEKA-EMIRI, Sofia; LEON, Maria Clemente; LICHIARDOPOL, Corina Raducanu; MARKOSYAN, Renata L.; MILENKOVIC, Tatjana; MIRANDA, Mirela Costa de; NEUMANN, Uta; NEWELL-PRICE, John; POYRAZOGLU, Sukran; PROBST-SCHEIDEGGER, Ursina; RUSSO, Gianni; SANCTIS, Luisa De; SAFWAAN, Adam; SENEVIRATNE, Sumudu; STANCAMPIANO, Marianna Rita; TADOKORO-CUCCARO, Rieko; THANKAMONY, Ajay; VIEITES, Ana; WASNIEWSKA, Malgorzata; YESTE, Diego; DANIEL, Eleni; TOMLINSON, Jeremy; AHMED, S. Faisal; KRONE, NilsconferenceObject Efficacy of liquid-chromatography and radioimmunoassay in false-positives' drop-off in CAH newborn screening(2022) CARVALHO, Daniel; LIMA-VALASSI, Helena; ALVES, Atecla; MIRANDA, Mirela; RODRIGUES, Andressa; HAYASHI, Giselle; MADUREIRA, Guiomar; STEINMETZ, Leandra; DAMIANI, Durval; MENDONCA, Berenice; BACHEGA, TaniabookPart Diferenças do desenvolvimento sexual(2022) DOMENICE, Sorahia; COSTA, Elaine Maria Frade; BACHEGA, Tânia Sanchez; MENDONçA, Berenice Bilharinho debookPart Síndromes hiperandrogênicas(2022) COSTA, Fernanda Cavalieri; BACHEGA, Tânia Sanchez; MENDONçA, Berenice Bilharinho de; GOMES, Larissa Garcia