TANIA APARECIDA SARTORI SANCHEZ BACHEGA

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Departamento de Clínica Médica, Faculdade de Medicina - Docente
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina - Líder

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  • conferenceObject
    Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice
    (2023) LIM, David B. N.; BRYCE, Jillian; ALI, Salma R.; TSERETOPOULOU, Xanthippi; BIRKEBAEK, Niels H.; HANNEMA, Sabine E.; CAMPOS-MARTORELL, Ariadna; CLEMENTE, Maria; NEUMANN, Uta; FLUCK, Christa E.; METZGER, Sara; KRONE, Ruth E.; GERMAN, Alina; BARONIO, Federico; ATAPATTU, Navoda; SENEVIRATNE, Sumudu N.; COOLS, Martine; MIEKE, Thery; GURAN, Tulay; ABALI, Zehra Yavas; FU, Antony; JANUS, Dominika; WASNIEWSKA, Malgorzata; COCO, Roberto; RUSSO, Gianni; STANCAMPIANO, Marianna Rita; BONFIG, Walter; SALERNO, Mariacarolina; GRINTEN, Hedi L. Claahsen-Van Der; ADRIAANSEN, Bas P. H.; BACHEGA, Tania; COSTA, Fernanda Cavalieri; MARGINEAN, Otilia; SANCTIS, Luisa De; PROBST, Ursina; LENHERR-TAUBE, Nina; KONRAD, Daniel; O'CONNELL, Michele; GAWLIK, Aneta; SANDBERG, David E.; SHNORHAVORIAN, Margarett; KRONE, Nils; AHMED, S. Faisal; DAVIES, Justin H.
  • article 3 Citação(ões) na Scopus
    Long-term cardiometabolic morbidity in young adults with classic 21-hydroxylase deficiency congenital adrenal hyperplasia
    (2023) RIGHI, Beatrice; ALI, Salma R.; BRYCE, Jillian; TOMLINSON, Jeremy W.; BONFIG, Walter; BARONIO, Federico; COSTA, Eduardo C.; GUARAGNA-FILHO, Guilherme; T'SJOEN, Guy; COOLS, Martine; MARKOSYAN, Renata; BACHEGA, Tania A. S. S.; MIRANDA, Mirela C.; IOTOVA, Violeta; FALHAMMAR, Henrik; CECCATO, Filippo; STANCAMPIANO, Marianna R.; RUSSO, Gianni; DANIEL, Eleni; AUCHUS, Richard J.; ROSS, Richard J.; AHMED, S. Faisal
    PurposeTo study the current practice for assessing comorbidity in adults with 21-hydroxylase CAH and to assess the prevalence of comorbidity in these adults.MethodsA structured questionnaire was sent to 46 expert centres managing adults with CAH. Information collected included current therapy and surveillance practice with a particular focus on osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity.ResultsOf the 31 (67%) centres from 15 countries that completed the survey, 30 (97%) screened for hypertension by measuring blood pressure, 30 (97%) screened for obesity, 26 (84%) screened for abnormal glucose homoeostasis mainly by using Hb1Ac (73%), 25 (81%) screened for osteoporosis mainly by DXA (92%), 20 (65%) screened for hyperlipidaemia and 6 (19%) screened for additional CV disease. Of the 31 centres, 13 provided further information on the six co-morbidities in 244 patients with a median age of 33 yrs (range 19, 94). Of these, 126 (52%) were females and 174 (71%) received fludrocortisone in addition to glucocorticoids. Of the 244 adults, 73 (30%) were treated for at least one comorbidity and 15 (21%) for more than 2 co-morbidities. Of 73, the patients who were treated for osteoporosis/osteopaenia, hyperlipidaemia, type 2 diabetes/hyperinsulinaemia, hypertension, CV disease, obesity were 43 (59%), 17 (23%), 16 (22%), 10 (14%), 8 (11), 3 (4%) respectively.ConclusionCardiometabolic and bone morbidities are not uncommon in adults with CAH. There is a need to standardise the screening for these morbidities from early adulthood and to explore optimal therapy through routine collection of standardised data.
  • article 21 Citação(ões) na Scopus
    International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry
    (2021) BACILA, Irina; FREEMAN, Nicole; DANIEL, Eleni; SANDRK, Marija; BRYCE, Jillian; ALI, Salma Rashid; ABALI, Zehra Yavas; ATAPATTU, Navoda; BACHEGA, Tania A.; BALSAMO, Antonio; BIRKEBAEK, Niels; BLANKENSTEIN, Oliver; BONFIG, Walter; COOLS, Martine; COSTA, Eduardo Correa; DARENDELILER, Feyza; EINAUDI, Silvia; ELSEDFY, Heba Hassan; FINKEN, Martijn; GEVERS, Evelien; GRINTEN, Hedi L. Claahsen-van der; GURAN, Tulay; GUVEN, Ayla; HANNEMA, Sabine E.; HIGHAM, Claire E.; IOTOVA, Violeta; KAMP, Hetty J. van der; KORBONITS, Marta; KRONE, Ruth E.; LICHIARDOPOL, Corina; LUCZAY, Andrea; MENDONCA, Berenice Bilharinho; MILENKOVIC, Tatjana; MIRANDA, Mirela C.; MOHNIKE, Klaus; NEUMANN, Uta; ORTOLANO, Rita; POYRAZOGLU, Sukran; THANKAMONY, Ajay; TOMLINSON, Jeremy W.; VIEITES, Ana; VRIES, Liat de; AHMED, S. Faisal; ROSS, Richard J.; KRONE, Nils P.
    Objective: Despite published guidelines no unified approach to hormone replacement in congenital adrenal hyperplasia (CAH) exists. We aimed to explore geographical and temporal variations in the treatment with glucocorticoids and mineralocorticoids in CAH. Design: This retrospective multi-center study, including 31 centers (16 countries), analyzed data from the International CAH Registry. Methods: Data were collected from 461 patients aged 0-18 years with classic 21-hydroxylase deficiency (54.9% females) under follow-up between 1982 and 2018. Type, dose and timing of glucocorticoid and mineralocorticoid replacement were analyzed from 4174 patient visits. Results: The most frequently used glucocorticoid was hydrocortisone (87.6%). Overall, there were significant differences between age groups with regards to daily hydrocortisone-equivalent dose for body surface, with the lowest dose (median with interquartile range) of 12.0 (10.0-14.5) mg/m(2)/day at age 1-8 years and the highest dose of 14.0 (11.6-17.4) mg/m(2)/day at age 12-18 years. Glucocorticoid doses decreased after 2010 in patients 0-8 years (P < 0.001) and remained unchanged in patients aged 8-18 years. Fludrocortisone was used in 92% of patients, with relative doses decreasing with age. A wide variation was observed among countries with regards to all aspects of steroid hormone replacement. Conclusions: Data from the I-CAH Registry suggests international variations in hormone replacement therapy, with a tendency to treatment with high doses in children.
  • conferenceObject
    DEFINING THE DOSE, TYPE AND TIMING OF GLUCOCORTICOID AND MINERALOCORTICOID REPLACEMENT IN 256 CHILDREN AND ADULTS WITH CONGENITAL ADRENAL HYPERPLASIA (CAH) IN THE I-CAH REGISTRY
    (2017) DANIEL, Eleni; SANDRK, Marija; BLANKENSTEIN, Oliver; NEUMANN, Uta; GRINTEN, Hedi Claahsen-Van der; LINDE, Annelieke Van der; DARENDELILER, Feyza; PYRAZOGLU, Sukran; MENDONCA, Berenice B.; BACHEGA, Tania S. S.; MIRANDA, Mirela C.; ACERINI, Carlo; GURAN, Tulay; BIRKEBAEK, Niels H.; COOLS, Martine; MILENKOVIC, Tatjana; BONFIG, Walter; TOMLINSON, Jeremy W.; AHMED, Syed Faisal; ELSEDFY, Heba; BALSAMO, Antonio; HANNEMA, Sabine E.; HIGHAM, Claire; ATAPATTU, Navoda; LICHIARDOPOL, Corina; KRONE, Ruth E.; MOHNIKE, Klaus; KRONE, Nils
  • conferenceObject
    Long-Term Cardiometabolic Morbidity in Young Adults with Classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
    (2021) RIGHI, Beatrice; ALI, Salma R.; BRYCE, Jillian; TOMLINSON, Jeremy W.; BONFIG, Walter; BARONIO, Federico; COSTA, Eduardo C.; GUARAGNA FILHO, Guilherme; T'SJOEN, Guy; COOLS, Martine; MARKOSYAN, Renata; BACHEGA, Tania A. S. S.; MIRANDA, Mirela C.; IOTOVA, Violeta; FALHAMMAR, Henrik; CECCATO, Filippo; STANCAMPIANO, Marianna R.; RUSSO, Gianni; VUKOVIC, Rade; GIORDANO, Roberta; MAZEN, Inas; GUVEN, Ayla; DARENDELILER, Feyza; POYRAZOGLU, Sukran; VRIES, Liat de; ELLAITHI, Mona; DANIEL, Eleni; JOHNSTON, Colin; HUNTER, Steven J.; CARROLL, Paul V.; ADAM, Safwaan; PERRY, Colin G.; KEARNEY, Tara; ABRAHAM, Prakash; REES, D. Aled; LEESE, Graham P.; REISCH, Nicole; STIKKELBROECK, Nike M. M. L.; AUCHUS, Richard J.; ROSS, Richard J.; AHMED, S. Faisal
  • conferenceObject
    Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia - Insights from the I-CAH Registry
    (2019) BACILA, Irina-Alexandra; BLANKENSTEIN, Oliver; NEUMANN, Uta; GRINTEN, Hedi L. Claahsen-van der; KRONE, Ruth; ACERINI, Carlo; BACHEGA, Tania S. S.; MIRANDA, Mirella C.; MENDONCA, Berenice; BIRKEBAEK, Niels H.; COOLS, Martine; MILENKOVIC, Tatjana; BONFIG, Walter; TOMLINSON, Jeremy; ELSEDFY, Heba; BALSAMO, Antonio; HANNEMA, Sabine; HIGHAM, Claire; ATAPATTU, Navoda; LICHIARDOPOL, Corina; GURAN, Tulay; ABALI, Zehra; MOHNIKE, Klaus; FINKEN, Martijn J. J.; VIEITES, Ana; DARENDELILER, Feyza; GUVEN, Ayla; KORBONITS, Marta; VRIE, Liat De; COSTA, Eduardo; EINAUDI, Silvia; KAMP, Hetty van der; IOTOVA, Violeta; ROSS, Richard; AHMED, S. Faisal; KRONE, Nils P.
  • article 69 Citação(ões) na Scopus
    Disorders of sex development: effect of molecular diagnostics
    (2015) ACHERMANN, John C.; DOMENICE, Sorahia; BACHEGA, Tania A. S. S.; NISHI, Mirian Y.; MENDONCA, Berenice B.
    Disorders of sex development (DSDs) are a diverse group of conditions that can be challenging to diagnose accurately using standard phenotypic and biochemical approaches. Obtaining a specific diagnosis can be important for identifying potentially life-threatening associated disorders, as well as providing information to guide parents in deciding on the most appropriate management for their child. Within the past 5 years, advances in molecular methodologies have helped to identify several novel causes of DSDs; molecular tests to aid diagnosis and genetic counselling have now been adopted into clinical practice. Occasionally, genetic profiling of embryos prior to implantation as an adjunct to assisted reproduction, prenatal diagnosis of at-risk pregnancies and confirmatory testing of positive results found during newborn biochemical screening are performed. Of the available genetic tests, the candidate gene approach is the most popular. New high-throughput DNA analysis could enable a genetic diagnosis to be made when the aetiology is unknown or many differential diagnoses are possible. Nonetheless, concerns exist about the use of genetic tests. For instance, a diagnosis is not always possible even using new molecular approaches (which can be worrying for the parents) and incidental information obtained during the test might cause anxiety. Careful selection of the genetic test indicated for each condition remains important for good clinical practice. The purpose of this Review is to describe advances in molecular biological techniques for diagnosing DSDs.
  • conferenceObject
    Acute Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia (CAH): Changes During The Period 2019-2022 In I-CAH
    (2023) TSERETOPOULOU, Xanthippi; ALI, Salma R.; BRYCE, Jillian; AMIN, Nadia; ATAPATTU, Navoda; BACHEGA, Tania; BARONIO, Federico; BIRKEBAEK, Niels H.; BONFIG, Walter; DAVIES, Justin H.; THOMAS, Tessy; VRIES, Liat de; ELSEDFY, Heba; AMR, Nermine Hussein; FLUECK, Christa E.; GLOBA, Evgenia; ZELINSKA, Natalia; GURAN, Tulay; ABALI, Zehra Yavas; GUVEN, Ayla; HANNEMA, Sabine E.; IOTOVA, Violeta; KONRAD, Daniel; KRONE, Nils P.; LENHERR-TAUBE, Nina; LEKA-EMIRIS, Sofia; VLACHOPAPADOPOULOU, Elpis; LICHIARDOPOL, Corina R.; MARGINEAN, Otilia; MARKOSYAN, Renata L.; NIEDZIELA, Marek; BANASZAK-ZIEMSKA, Magdalena; NEUMANN, Uta; PHAN-HUG, Franziska; POLYRAZOGLU, Sukran; PROBST, Ursina; RANDELL, Tabitha; RUSSO, Gianni; SALERNO, Mariacarolina; SHNORHAVORIAN, Margarett; ECK, Judith van; VIEITES, Ana; WASNIEWSKA, Malgorzata; AHMED, Syed F.
  • 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
  • article 6 Citação(ões) na Scopus
    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 der
    Objectives: 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.