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Article: Recognition of the Y chromosome in Turner syndrome using peripheral blood or oral mucosa tissue.

Barbosa, Lene Garcia / Siviero-Miachon, Adriana Aparecida / Souza, Maria Anunciação / Spinola-Castro, Angela Maria

Annals of pediatric endocrinology & metabolism

2021 Volume 26, Issue 4, Page(s) 272–277

Abstract: Purpose: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the ...

Abstract	Purpose: Turner syndrome is defined as total or partial loss of the second sex chromosome in a phenotypically female patient. Due to the possibility of hidden mosaicism of fragments of the Y chromosome and development of gonadoblastoma, we evaluated the presence of such fragments in 2 tissues with different embryonic origins, peripheral blood lymphocytes (mesoderm), and oral mucosal cells (ectoderm) using multiplex polymerase chain reaction. Methods: DNA samples were collected from 109 patients, and primers for the SRY, TSPY, and AMELX genes were used. Results: We found 14 patients (12.8%) with positive molecular markers for the Y chromosome. The study of tissues of different embryological origin showed the same degree of agreement, sensitivity, and specificity. Conclusion: Oral mucosa cells have a simpler method of collection that is less invasive and requires less time for DNA extraction at a lower cost.
Language	English
Publishing date	2021-10-08
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	2800460-7
ISSN	2287-1292 ; 2287-1012
ISSN (online)	2287-1292
ISSN	2287-1012
DOI	10.6065/apem.2142026.013
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Article: Adipokines in young survivors of childhood acute lymphocytic leukemia revisited: beyond fat mass.

Siviero-Miachon, Adriana Aparecida / Spinola-Castro, Angela Maria / Andreoni, Solange / Lee, Maria Lucia de Martino / Calixto, Antonio Ramos / Geloneze, Bruno / Guerra-Junior, Gil

Annals of pediatric endocrinology & metabolism

2020 Volume 25, Issue 3, Page(s) 174–181

Abstract: Purpose: This cross-sectional study evaluated the relationship between adipokines (leptin, adiponectin, visfatin, and resistin) and adiposity indexes regarding sex and cranial radiotherapy exposure among young acute lymphocytic leukemia survivors.: ... ...

Abstract	Purpose: This cross-sectional study evaluated the relationship between adipokines (leptin, adiponectin, visfatin, and resistin) and adiposity indexes regarding sex and cranial radiotherapy exposure among young acute lymphocytic leukemia survivors. Methods: A multivariate analysis of covariance (MANCOVA) was used to evaluate the joint effect of sex, cranial radiotherapy, and body mass index (BMI) z-score (model 1) or fat mass index (FMI) (model 2) on adipokines. Results: This study included 55 survivors of childhood acute lymphocytic leukemia between 15 and 23 years of age from both sexes (56.4% female); 43.6% of the sample had undergone cranial radiotherapy (18-24 Gy). The BMI z-score, the FMI, and sex (P<0.050 for all) influenced at least one adipokine, while cranial radiotherapy exposure was marginal in model 2. Parameter estimates from the MANCOVA's final model showed that the BMI z-score (β=-0.437, P=0.010) and the FMI (β=-0.209, P=0.004) negatively influenced adiponectin, while the FMI positively affected resistin (β=0.142, P=0.020). The relationship between leptin, visfatin, and the adiposity ndexes could not be established. In model 1, females presented with increased adiponectin (β=-1.014, P=0.011) and resistin (β=-1.067, P=0.002) levels; in model 2, female sex positively affected adiponectin (β=-1.515, P=0.001) and marginally influenced resistin (β=-0.707, P=0.054) levels. Cranial radiotherapy negatively determined visfatin levels in both final models (P<0.050). Conclusion: Changes in body fat may be associated with adipose tissue dysfunction and should be carefully evaluated in survivors of acute lymphocytic leukemia, considering both sex and cranial radiotherapy exposure, to treat disorders that may possibly aggravate their risk for early cardiovascular disease.
Language	English
Publishing date	2020-07-29
Publishing country	Korea (South)
Document type	Journal Article
ZDB-ID	2800460-7
ISSN	2287-1292 ; 2287-1012
ISSN (online)	2287-1292
ISSN	2287-1012
DOI	10.6065/apem.1938174.087
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Article ; Online: Low bone mineral density in patients with Sickle Cell Anaemia (SCA) and short stature should be interpreted with caution.

Spinola-Castro, Angela Maria / Siviero-Miachon, Adriana Aparecida

Tropical medicine & international health : TM & IH

2014 Volume 19, Issue 3, Page(s) 364–365

MeSH term(s)	Anemia, Sickle Cell/physiopathology ; Bone Density ; Female ; Growth Disorders/etiology ; Humans ; Male ; Puberty
Language	English
Publishing date	2014-03
Publishing country	England
Document type	Comment ; Letter
ZDB-ID	1314080-2
ISSN	1365-3156 ; 1360-2276
ISSN (online)	1365-3156
ISSN	1360-2276
DOI	10.1111/tmi.12260
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Zs.A 4415: Show issues

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Article ; Online: Childhood Craniopharyngioma: A 22-Year Challenging Follow-Up in a Single Center.

Tosta-Hernandez, Patrícia Débora Cavalcanti / Siviero-Miachon, Adriana Aparecida / da Silva, Nasjla Saba / Cappellano, Andrea / Pinheiro, Marcelo de Medeiros / Spinola-Castro, Angela Maria

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme

2018 Volume 50, Issue 9, Page(s) 675–682

Abstract: Craniopharyngioma is a sellar/suprasellar benign tumor whose aggressiveness may imply in endocrine disturbances (hypothalamic obesity and hormone deficiencies). Fifty-seven patients were evaluated according to clinical characteristics, hypothalamic ... ...

Abstract	Craniopharyngioma is a sellar/suprasellar benign tumor whose aggressiveness may imply in endocrine disturbances (hypothalamic obesity and hormone deficiencies). Fifty-seven patients were evaluated according to clinical characteristics, hypothalamic involvement, type of treatment, anthropometric variables, adiposity indexes (body mass index Z score category at diagnosis and post-treatment, total body fat, visceral adipose tissue, and metabolic syndrome components) and analyzed through multiple regression and logistic models. Patients were stratified according to growth hormone deficiency and recombinant human growth hormone use. Mean ages at diagnosis and at study evaluation were 9.6 and 16.6 years old, respectively. A set of 43/57 (75.4%) patients presented with important hypothalamic involvement, 24/57 (42.1%) received surgical treatment and cranial radiotherapy, and 8/57 (14%) interferon-α exclusively. Fifty-five patients (96.5%) were considered growth hormone deficient, and 26/57 (45.6%) grew despite no recombinant human growth hormone replacement therapy. At diagnosis, 12/57 (21%) patients were obese, and 33/57 (57.9%) at study evaluation, and after 3.2 years (median) post first therapy. There was no influence of height Z score on body mass index Z score. Body mass index Z score at diagnosis positively influenced body mass index Z score, total body fat, waist circumference and the presence of the metabolic syndrome post-treatment. Replacement of recombinant human growth hormone decreased total body fat and visceral adipose tissue. Craniopharyngioma patients worsened body mass index Z score category 3.2 years (median) after first treatment. Body mass index Z score increased due to real weight gain, without height decrease. Replacement of recombinant human growth hormone had beneficial effect on adiposity.
MeSH term(s)	Adiposity ; Adolescent ; Body Mass Index ; Child ; Craniopharyngioma/metabolism ; Craniopharyngioma/pathology ; Craniopharyngioma/physiopathology ; Craniopharyngioma/therapy ; Cross-Sectional Studies ; Female ; Follow-Up Studies ; Human Growth Hormone/metabolism ; Humans ; Intra-Abdominal Fat/metabolism ; Intra-Abdominal Fat/pathology ; Male ; Retrospective Studies
Chemical Substances	Human Growth Hormone (12629-01-5)
Language	English
Publishing date	2018-06-29
Publishing country	Germany
Document type	Journal Article ; Randomized Controlled Trial
ZDB-ID	80125-2
ISSN	1439-4286 ; 0018-5043
ISSN (online)	1439-4286
ISSN	0018-5043
DOI	10.1055/a-0641-5956
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Zs.A 681: Show issues

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Article: Untreated Congenital Hypothyroidism Mimicking Hirschsprung Disease: A Puzzling Case in a One-Year-Old Child.

Tahan, Soraia / Siviero-Miachon, Adriana Aparecida / de Faria Soares, Maria de Fatima / Soares Martins-Moura, Elaine Cristina / Peterlini, Fabio Luis / Batista de Morais, Mauro / Spinola-Castro, Angela Maria

Case reports in pediatrics

2018 Volume 2018, Page(s) 9209873

Abstract: Congenital hypothyroidism is a clinical emergency due to its potential risk of mental retardation. Constipation might be present in hypothyroid children. However, Hirschsprung disease is rarely associated with congenital hypothyroidism. Herein, a case of ...

Abstract	Congenital hypothyroidism is a clinical emergency due to its potential risk of mental retardation. Constipation might be present in hypothyroid children. However, Hirschsprung disease is rarely associated with congenital hypothyroidism. Herein, a case of congenital hypothyroidism in a one-year-old child mimicking Hirschsprung disease is described. Adequate treatment with levothyroxine sodium tablets controlled intestinal dysmotility that mimicked congenital intestinal aganglionosis due to the critical influence of thyroid hormones on bowel motility.
Language	English
Publishing date	2018-06-28
Publishing country	United States
Document type	Case Reports
ZDB-ID	2659094-3
ISSN	2090-6811 ; 2090-6803
ISSN (online)	2090-6811
ISSN	2090-6803
DOI	10.1155/2018/9209873
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Article: Childhood Craniopharyngioma: A 22-Year Challenging Follow-Up in a Single Center

Tosta-Hernandez, Patrícia Débora Cavalcanti / Siviero-Miachon, Adriana Aparecida / da Silva, Nasjla Saba / Cappellano, Andrea / Pinheiro, Marcelo de Medeiros / Spinola-Castro, Angela Maria

Hormone and Metabolic Research

2018 Volume 50, Issue 09, Page(s) 675–682

Abstract	Craniopharyngioma is a sellar/suprasellar benign tumor whose aggressiveness may imply in endocrine disturbances (hypothalamic obesity and hormone deficiencies). Fifty-seven patients were evaluated according to clinical characteristics, hypothalamic involvement, type of treatment, anthropometric variables, adiposity indexes (body mass index Z score category at diagnosis and post-treatment, total body fat, visceral adipose tissue, and metabolic syndrome components) and analyzed through multiple regression and logistic models. Patients were stratified according to growth hormone deficiency and recombinant human growth hormone use. Mean ages at diagnosis and at study evaluation were 9.6 and 16.6 years old, respectively. A set of 43/57 (75.4%) patients presented with important hypothalamic involvement, 24/57 (42.1%) received surgical treatment and cranial radiotherapy, and 8/57 (14%) interferon-α exclusively. Fifty-five patients (96.5%) were considered growth hormone deficient, and 26/57 (45.6%) grew despite no recombinant human growth hormone replacement therapy. At diagnosis, 12/57 (21%) patients were obese, and 33/57 (57.9%) at study evaluation, and after 3.2 years (median) post first therapy. There was no influence of height Z score on body mass index Z score. Body mass index Z score at diagnosis positively influenced body mass index Z score, total body fat, waist circumference and the presence of the metabolic syndrome post-treatment. Replacement of recombinant human growth hormone decreased total body fat and visceral adipose tissue. Craniopharyngioma patients worsened body mass index Z score category 3.2 years (median) after first treatment. Body mass index Z score increased due to real weight gain, without height decrease. Replacement of recombinant human growth hormone had beneficial effect on adiposity.
Keywords	obesity ; body weight ; hypopituitarism ; adipose tissue ; growth hormone/deficiency
Language	English
Publishing date	2018-06-29
Publisher	© Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	80125-2
ISSN	1439-4286 ; 0018-5043
ISSN (online)	1439-4286
ISSN	0018-5043
DOI	10.1055/a-0641-5956
Database	Thieme publisher's database

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Article ; Online: Adiposity in childhood cancer survivors: insights into obesity physiopathology.

Siviero-Miachon, Adriana Aparecida / Spinola-Castro, Angela Maria / Guerra-Junior, Gil

Arquivos brasileiros de endocrinologia e metabologia

2009 Volume 53, Issue 2, Page(s) 190–200

Abstract: As childhood cancer treatment has become more effective, survival rates have improved, and a number of complications have been described while many of these patients reach adulthood. Obesity is a well-recognized late effect, and its metabolic effects may ...

Abstract	As childhood cancer treatment has become more effective, survival rates have improved, and a number of complications have been described while many of these patients reach adulthood. Obesity is a well-recognized late effect, and its metabolic effects may lead to cardiovascular disease. Currently, studies concerning overweight have focused on acute lymphocytic leukemia and brain tumors, since they are at risk for hypothalamic-pituitary axis damage secondary to cancer therapies (cranial irradiation, chemotherapy, and brain surgery) or to primary tumor location. Obesity and cancer have metabolic syndrome features in common. Thus, it remains controversial if overweight is a cause or consequence of cancer, and to date additional mechanisms involving adipose tissue and hypothalamic derangements have been considered, comprising premature adiposity rebound, hyperinsulinemia, leptin regulation, and the role of peroxisome proliferator-activated receptor gamma. Overall, further research is still necessary to better understand the relationship between adipogenesis and hypothalamic control deregulation following cancer therapy.
MeSH term(s)	Adipogenesis ; Adipose Tissue/physiopathology ; Adiposity/physiology ; Brain Neoplasms/complications ; Brain Neoplasms/physiopathology ; Brain Neoplasms/therapy ; Child ; Humans ; Leukemia, Lymphoid/complications ; Leukemia, Lymphoid/physiopathology ; Leukemia, Lymphoid/therapy ; Neoplasms/complications ; Neoplasms/therapy ; Obesity/complications ; Obesity/physiopathology ; PPAR gamma/physiology ; Survivors
Chemical Substances	PPAR gamma
Language	English
Publishing date	2009-04-15
Publishing country	Brazil
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	603919-4
ISSN	1677-9487 ; 0004-2730
ISSN (online)	1677-9487
ISSN	0004-2730
DOI	10.1590/s0004-27302009000200011
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Zs.B 264: Show issues

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Article ; Online: Visfatin is a positive predictor of bone mineral density in young survivors of acute lymphocytic leukemia.

Siviero-Miachon, Adriana Aparecida / Spinola-Castro, Angela Maria / de Martino Lee, Maria Lucia / Calixto, Antonio Ramos / Geloneze, Bruno / Lazaretti-Castro, Marise / Guerra-Junior, Gil

Journal of bone and mineral metabolism

2017 Volume 35, Issue 1, Page(s) 73–82

Abstract: Bone mass acquisition may be compromised in survivors of childhood acute lymphocytic leukemia due to various factors, including adiposity. Fat accumulation can affect bone through the direct effect of adipokines or indirectly through the state of chronic ...

Abstract	Bone mass acquisition may be compromised in survivors of childhood acute lymphocytic leukemia due to various factors, including adiposity. Fat accumulation can affect bone through the direct effect of adipokines or indirectly through the state of chronic inflammation. The aim of this study was to evaluate the effect of body composition and adipokines on bone mass in survivors of acute lymphocytic leukemia. This was a cross-sectional study of 56 survivors aged between 15 and 24 years, 44.6 % of whom received cranial radiotherapy (18-24 Gy), assessed according to body fat, lean mass, and bone mineral density (dual energy X-ray absorptiometry), computed tomography scan-derived abdominal adipose tissue, and adipokines by a multiple regression analysis. Both lumbar spine L
MeSH term(s)	Adiposity ; Adolescent ; Adult ; Bone Density ; Cross-Sectional Studies ; Cytokines/blood ; Female ; Humans ; Lumbar Vertebrae/metabolism ; Male ; Nicotinamide Phosphoribosyltransferase/blood ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/blood ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/radiotherapy ; Predictive Value of Tests ; Survivors
Chemical Substances	Cytokines ; Nicotinamide Phosphoribosyltransferase (EC 2.4.2.12) ; nicotinamide phosphoribosyltransferase, human (EC 2.4.2.12)
Language	English
Publishing date	2017-01
Publishing country	Japan
Document type	Comparative Study ; Journal Article ; Multicenter Study ; Randomized Controlled Trial
ZDB-ID	1295123-7
ISSN	1435-5604 ; 0914-8779
ISSN (online)	1435-5604
ISSN	0914-8779
DOI	10.1007/s00774-015-0728-5
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Zs.A 4894: Show issues

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Article ; Online: Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition.

Pires, Liliane Viana / Siviero-Miachon, Adriana Aparecida / Spinola-Castro, Angela Maria / Pimentel, José Alexandre Coelho / Nishimura, Luciana Sigueta / Maia, Carla Soraya Costa / Cozzolino, Silvia Maria Franciscato

Biological trace element research

2017 Volume 176, Issue 2, Page(s) 217–224

Abstract: Studies about selenium status in patients with Turner syndrome (TS) are non-existent in the literature. The aim of this study was to evaluate selenium status in patients with TS, while considering the different ages of the studied population and the ... ...

Abstract	Studies about selenium status in patients with Turner syndrome (TS) are non-existent in the literature. The aim of this study was to evaluate selenium status in patients with TS, while considering the different ages of the studied population and the relation with body composition. In total, 33 patients with TS were evaluated and grouped according to their developmental stages (children, adolescents, and adults). Selenium concentrations in their plasma, erythrocytes, urine, and nails were determined by using hydride generation atomic absorption spectrometry and erythrocyte glutathione peroxidase activity were measured by using Randox commercial kits. Additionally, height, weight, body fat percentage, waist circumference, and waist-height ratio were measured to characterize the patients. No differences in the selenium concentrations in the plasma, erythrocyte, urine, and nails or in the glutathione peroxidase activity were observed among the age groups (p > 0.05). The evaluated selenium levels were less than the established normal ones. The patients with larger waist circumference, body fat percentage, body mass index, and waist-height ratio showed lower glutathione peroxidase enzyme activity (p = 0.023). The present study shows that most patients with TS are deficient in selenium and that those with a greater accumulation of body fat have a lower GPx activity.
MeSH term(s)	Adolescent ; Adult ; Child ; Humans ; Nails/chemistry ; Selenium/blood ; Selenium/urine ; Turner Syndrome/blood ; Turner Syndrome/urine ; Young Adult
Chemical Substances	Selenium (H6241UJ22B)
Language	English
Publishing date	2017-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	445336-0
ISSN	1559-0720 ; 0163-4984
ISSN (online)	1559-0720
ISSN	0163-4984
DOI	10.1007/s12011-016-0831-z
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Zs.B 2323: Show issues

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Article: Detection of metabolic syndrome features among childhood cancer survivors: a target to prevent disease.

Siviero-Miachon, Adriana Aparecida / Spinola-Castro, Angela Maria / Guerra-Junior, Gil

Vascular health and risk management

2008 Volume 4, Issue 4, Page(s) 825–836

Abstract: Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial ... ...

Abstract	Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure), drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. In conclusion, some primary and secondary prevention remarks are proposed in order to reduce premature cardiovascular disease risk in this particular group of patients.
MeSH term(s)	Adolescent ; Adult ; Antineoplastic Agents/adverse effects ; Bone Marrow Transplantation/adverse effects ; Cardiovascular Diseases/etiology ; Cardiovascular Diseases/prevention & control ; Child ; Humans ; Metabolic Syndrome/drug therapy ; Metabolic Syndrome/etiology ; Neoplasms/therapy ; Radiotherapy/adverse effects ; Risk Assessment ; Risk Factors ; Survivors ; Treatment Outcome
Chemical Substances	Antineoplastic Agents
Language	English
Publishing date	2008-12-08
Publishing country	New Zealand
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2186568-1
ISSN	1178-2048 ; 1176-6344
ISSN (online)	1178-2048
ISSN	1176-6344
DOI	10.2147/vhrm.s2881
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