Publications by authors named "Rafael Batista"

36 Publications

Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood.

Pituitary 2020 Oct 24. Epub 2020 Oct 24.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Departamento de Clínica Médica do Hospital das Clínicas da Faculdade de Medicina da Universidade São Paulo, Av. Dr. Eneas de Carvalho Aguiar, 255, Sao Paulo, SP, 05403-000, Brazil.

Purpose: To evaluated the metabolic profiles and vascular properties in congenital growth hormone (GH) deficiency (GHD) and its replacement in adults.

Patients And Methods: Cross-sectional study conducted in a single tertiary center for pituitary diseases. Eighty-one adult subjects were divided into three groups: (1) 29 GHD patients with daily subcutaneous GH replacement therapy (GHRT) during adulthood; (2) 20 GHD patients without GHRT during adulthood and (3) 32 controls. Only patients with adequate adherence to others pituitary hormone deficiencies were included. Anthropometric parameters, body composition by dual-energy X-ray absorptiometry, metabolic profiles and vascular properties (carotid intima media thickness, pulse wave velocity and flow-mediated dilation) were compared among the groups.

Results: Waist-to-height ratio (WHR), body fat percentages and fat mass index (FMI) were lower in patients with GHRT than patients without GHRT during adulthood (0.49 ± 0.06 vs. 0.53 ± 0.06 p = 0.026, 30 ± 10 vs. 40 ± 11 p = 0.003 and 7.3 ± 4 vs. 10 ± 3.5 p = 0.041, respectively). In addition, association between longer GHRT and lower body fat percentage was observed (r =  - 0.326, p = 0.04). We found higher triglyceride (113.5 ± 62 vs. 78 ± 36, p = 0.025) and lower HDL cholesterol (51 ± 17 vs. 66 ± 23, p = 0.029) levels in patients without GHRT during adulthood in comparison to controls. No statistical differences were observed for vascular properties among the groups.

Conclusions: No differences in vascular properties were observed in congenital GHD adult patients with or without GHRT despite patients without GHRT had an unfavorable body composition. GHRT currently remains an individualized decision in adults with GHD and these findings bring new insight into the treatment and follow-up of these patients.
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http://dx.doi.org/10.1007/s11102-020-01099-zDOI Listing
October 2020

Anorexia as the first clinical manifestation of von Hippel-Lindau syndrome.

Mol Clin Oncol 2020 Nov 14;13(5):65. Epub 2020 Sep 14.

Eating Disorders Unit (AMBULIM), Institute of Psychiatry, Faculty of Medicine, University of São Paulo, São Paulo 05403-903, Brazil.

Hemangioblastomas (HBs) of the brain may present without neurological symptoms over a long period of time due to their benignity and slow growth. We herein present the case of a female patient who developed a HB of the fourth ventricle presenting only with severe weight loss and anorexia. The patient was screened for mutations in all 3 exons of the gene using Sanger sequencing, and was found to have a nonsense mutation in the gene (single-nucleotide change causing a premature stop codon: c.481C>T; p.Arg161*), causing formation of a truncated protein, consistent with von Hippel-Lindau syndrome (VHLs). The patient was first misdiagnosed with anorexia nervosa (AN) due to the lack of other symptoms. Molecular diagnosis allows further investigation of other VHLs-related tumors and timely, appropriate treatment. However, misdiagnosing anorexia nervosa may lead to poor prognosis and even death; thus, differential diagnosis is crucial in all such cases. The present case report provides evidence that fourth ventricular lesions may affect food intake control and satiety, and highlights the importance of accurate molecular diagnosis.
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http://dx.doi.org/10.3892/mco.2020.2135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506219PMC
November 2020

Impact of schooling in the HIV/AIDS prevalence among Brazilian transgender women.

Arch Endocrinol Metab 2020 Aug 5;64(4):369-373. Epub 2020 Jun 5.

Hospital de Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

Objective Discrimination and bullying are common conditions among LGBT people. During schooling, these practices compromising education. The aim of this study is to evaluate educational attainment among Brazilian transgender women (TW) and how their education level affects the risk of HIV infection. Study design a cross-sectional population-based study. Subjects and methods 95 adult TW were selected. Information concerning verbal and physical aggression, school dropout, school years (SY), and educational level were assessed. HIV status was screened using a fourth-generation immunoassay followed by western blot testing. Results The mean of SY was 9.1 ± 3.8 ys. The mean age at school dropout was 16.3 ± 3.4 ys old. Verbal aggression was reported by 83%, physical by 48%, and 18% of the TW dropped out school immediately after being physically assaulted. Participants who suffered physical aggression attended school for almost 4 years less than those participants who did not suffer this abuse (OR = -3.96, p < 0.0001). A similar result was found for verbal aggression (OR = -4.35; p < 0.0001). HIV/AIDS prevalence was 18% (n = 17). The mean of SY among HIV/AIDS positive and negative individuals were 6.8 ± 43 versus 9.7 ± 3, respectively (p = 0.004). Lower education was associated with higher frequency of HIV/AIDS among TW and this relationship was sustained after adjustment for injectable drug use and sex work (OR = 0.79, p = 0.04). Conclusion Among Brazilian TW, lower education level was a risk factor associated with HIV. The reasons for low schooling among TW are multifactorial, but verbal and physical harassment strongly contribute for it.
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http://dx.doi.org/10.20945/2359-3997000000260DOI Listing
August 2020

Chemically enhanced primary treatment of dairy wastewater using chitosan obtained from shrimp wastes: optimization using a Doehlert matrix design.

Environ Technol 2020 Jun 26:1-18. Epub 2020 Jun 26.

Department of Biochemistry and Tissue Biology, Campinas State University, São Paulo, Brazil.

Dairy operations generate large volumes of polluted wastewater that require treatment prior to discharge. Chemically enhanced primary treatment (CEPT) is a widely utilized wastewater treatment strategy; but it requires the use of non-biodegradable coagulants that can lead to toxic-byproducts. In this study, chitin from shrimp shell waste is extracted and converted into chitosan. Chitosan was demonstrated to be a natural, low-cost alternative coagulant compatible with the CEPT. Following treatment, dissolved air flotation allowed for the removal of turbidity, COD, and UV from the synthetic dairy effluent (SDE). Doehlert matrix was used to optimize the chitosan dosage and pH of the CEPT; as well as to model the process. The mechanisms behind the coagulation-flocculation were revealed using zeta potential analysis. FTIR spectroscopy was utilized to confirm the functional groups present on the chitosan. Chitosan with a degree of deacetylation equal to 81% was obtained. A chitosan dose of 73.34 mg/L at pH 5.00 was found to be optimal for the removal of pollutants. Removals of COD, turbidity and UV were 77.5%, 97.6%, and 88.8%, respectively. The amount of dry sludge generated to treat 1 m³ of SDE was 0.041 kg. Coagulation-flocculation mechanisms involved in chitosan-mediated treatment of SDE involve the neutralization of electrostatic charges carried on the amine groups present in cationic chitosan at pH 5.00. Doehlert matrix proved to be a useful tool in optimizing parameters throughout the coagulation-flocculation process. Chitosan from shrimp waste is a low-cost, eco-friendly coagulant alternative for the removal pollutants from dairy effluent using the CEPT.
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http://dx.doi.org/10.1080/09593330.2020.1783372DOI Listing
June 2020

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Appl Clin Genet 2020 14;13:83-96. Epub 2020 Apr 14.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, do Departamento de Clínica Médica, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Introduction: The conversion of testosterone into dihydrotestosterone is catalyzed by the 5α-reductase type 2 enzyme which plays a crucial role in the external genitalia virilization. It is encoded by the gene. Allelic variants in this gene cause a 46,XY DSD with no genotype-phenotype relationship. It was firstly reported in the early 70s from isolated clusters. Since then, several cases have been reported. Putting together, it will expand the knowledge on the molecular bases of androgen milieu.

Methods: We searched for SRD5A2 allelic variants (AV) in the literature (PubMed, Embase, MEDLINE) and websites (ensembl, HGMD, ClinVar). Only cases with AV in both alleles, either in homozygous or compound heterozygous were included. The included cases were analyzed according to ethnicity, exon, domain, aminoacid (aa) conservation, age at diagnosis, sex assignment, gender reassignment, external genitalia virilization and functional studies. External genitalia virilization was scored using Sinnecker scale. Conservation analysis was carried out using the CONSURF platform. For categorical variables, we used X2 test and Cramer's V. Continuous variables were analyzed by test or ANOVA. Concordance was estimated by Kappa.

Results: We identified 434 cases of 5ARD2 deficiencies from 44 countries. Most came from Turkey (23%), China (17%), Italy (9%), and Brazil (7%). Sixty-nine percent were assigned as female. There were 70% of homozygous allelic variants and 30% compound heterozygous. Most were missense variants (76%). However, small indels (11%), splicing (5%) and large deletions (4%) were all reported. They were distributed along with all exons with exon 1 (33%) and exon 4 (25%) predominance. Allelic variants in the exon 4 (NADPH-binding domain) resulted in lower virilization (p<0.0001). The codons 55, 65, 196, 235 and 246 are hotspots making up 25% of all allelic variants. Most of them (76%) were located at conserved aa. However, allelic variants at non-conserved aa were more frequently indels (28% vs 6%; p<0.01). The overall rate of gender change from female to male ranged from 16% to 70%. The lowest rate of gender change from female to male occurred in Turkey and the highest in Brazil. External genitalia virilization was similar between those who changed and those who kept their assigned gender. The gender change rate was significantly different across the countries (V=0.44; p<0.001) even with similar virilization scores.

Conclusion: 5ARD2 deficiency has a worldwide distribution. Allelic variants at the NADPH-ligand region cause lower virilization. Genitalia virilization influenced sex assignment but not gender change which was influenced by cultural aspects across the countries. Molecular diagnosis influenced on sex assignment, favoring male sex assignment in newborns with 5α-reductase type 2 deficiency.
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http://dx.doi.org/10.2147/TACG.S198178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7167369PMC
April 2020

Complete Androgen Insensitivity in Girls with Inguinal Hernias: A Serendipity Opportunity for Early Diagnosis.

J Invest Surg 2021 Feb 9;34(2):234-235. Epub 2019 Aug 9.

Hospital das Clínicas da Universidade de São Paulo, Endocrinology Unit, Laboratório de Investigações Médicas LIM/42, HCFMUSP, São Paulo/SP, Brazil.

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http://dx.doi.org/10.1080/08941939.2019.1612970DOI Listing
February 2021

Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome.

J Clin Endocrinol Metab 2019 12;104(12):6385-6390

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular, da Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

Context: Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition usually caused by pathogenic allelic variants in the androgen receptor (AR) gene. The phenotype depends on the AR variant, ranging from severe undervirilization (complete AIS) to several degrees of external genitalia undervirilization. Although 90% of those with complete AIS will have AR mutations, this will only be true for 40% of those with partial AIS (PAIS).

Objective: To identify the genetic etiology of AIS in a large multigenerational family with the PAIS phenotype.

Participants: Nine affected individuals with clinical and laboratory findings consistent with PAIS and a normal exonic AR sequencing.

Settings: Endocrine clinic and genetic institute from two academic referral centers.

Design: Analysis of whole exons of the AR gene, including splicing regions, was performed, followed by sequencing of the 5'untranslated region (UTR) of the AR gene. Detailed phenotyping was performed at the initial diagnosis and long-term follow-up, and circulating levels of steroid gonadal hormones were measured in all affected individuals. AR expression was measured using RT-PCR and cultured fibroblasts.

Results: All 46,XY family members with PAIS had inherited, in hemizygosity, a complex defect (∼1100 bp) in the 5'UTR region of the AR surrounded by a duplicated 18-bp sequence (target site duplication). This sequence is 99.7% similar to an active, long, interspersed element present on the X chromosome (AC002980; Xq22.2), which was inserted in the 5'UTR of the AR gene, severely reducing AR expression and leading to PAIS.

Conclusion: The molecular diagnosis of PAIS remains challenging. The genomic effect of retrotransposon mobilization should be considered a possible molecular cause of AIS and other AR diseases.
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http://dx.doi.org/10.1210/jc.2019-00144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834070PMC
December 2019

Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life.

Endocr Rev 2019 12;40(6):1547-1572

Division of Endocrinology, Department of Internal Medicine, University of São Paulo Medical School, University of São Paulo, São Paulo, Brazil.

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions that result in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. Advances in the clinical care of patients and families affected by 46,XY DSD have been achieved since publication of the original Consensus meeting in 2006. The aims of this paper are to review what is known about morbidity and mortality, diagnostic tools and timing, sex of rearing, endocrine and surgical treatment, fertility and sexual function, and quality of life in people with 46,XY DSD. The role for interdisciplinary health care teams, importance of establishing a molecular diagnosis, and need for research collaborations using patient registries to better understand long-term outcomes of specific medical and surgical interventions are acknowledged and accepted. Topics that require further study include prevalence and incidence, understanding morbidity and mortality as these relate to specific etiologies underlying 46,XY DSD, appropriate and optimal options for genitoplasty, long-term quality of life, sexual function, involvement with intimate partners, and optimizing fertility potential.
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http://dx.doi.org/10.1210/er.2019-00049DOI Listing
December 2019

Testosterone replacement in androgen insensitivity: is there an advantage?

Ann Transl Med 2018 Nov;6(Suppl 1):S85

Faculdade de Medicina FMUSP, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.21037/atm.2018.10.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291578PMC
November 2018

Cabergoline in the Management of Residual Nonfunctioning Pituitary Adenoma: A Single-Center, Open-Label, 2-Year Randomized Clinical Trial.

Am J Clin Oncol 2019 02;42(2):221-227

Division of Functional Neurosurgery, Institute of Psychiatry-IPq, Hospital das Clinicas, FMUSP.

Background: Complete tumor removal by transsphenoidal surgery is usually difficult for large nonfunctioning pituitary adenomas (NFPAs). A validated medical treatment may be useful for their management. This study evaluates the clinical efficacy of the dopaminergic agonist cabergoline for residual NFPA.

Design, Setting, And Participants: We conducted a randomized, parallel, open-label clinical trial that compared cabergoline with nonintervention in patients with residual NFPA after transsphenoidal surgery over 2 years. The primary outcome was clinical efficacy (tumor reduction). The secondary outcome was the relationship between tumor dopamine D2 receptor (D2R) expression and clinical responsiveness. Tumor measurements and clinical evaluations were performed every 6 months.

Results: In total, 59 and 57 individuals were randomly assigned to the study and control groups, respectively. At the end of the study, residual tumor shrinkage, stabilization, and enlargement were observed in 28.8%, 66.1%, and 5.1% of patients, respectively, in the medical-therapy group and in 10.5%, 73.7%, and 15.8% of patients, respectively, in the control group (P=0.01). The progression-free survival rate was 23.2 and 20.8 months for the study and control groups, respectively (P=0.01). D2R was not associated with cabergoline responsiveness. No major side effects were related to cabergoline use.

Conclusions: Cabergoline was an effective drug for treating residual NFPA, and its use was associated with a high rate of tumor shrinkage (ClinicalTrials.gov NCT03271918).
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http://dx.doi.org/10.1097/COC.0000000000000505DOI Listing
February 2019

Association between KISS1 rs5780218 promoter polymorphism and onset of growth hormone secreting pituitary adenoma.

Ann Endocrinol (Paris) 2019 Apr 25;80(2):96-100. Epub 2018 Sep 25.

Laboratorio de Endocrinologia Celular e Molecular, LIM25, Disciplina de Endocrinologia e Metabologia, Hospital das Clinicas, FMUSP, São Paulo, Brasil; Unidade de Neuroendocrinologia, Disciplina de Endocrinologia e Metabologia, Hospital das Clinicas, FMUSP, São Paulo, Brasil. Electronic address:

Objectives: This study analyzed the KISS1 c.-145delA (rs5780218) promoter polymorphism in a cohort of patients with growth hormone secreting pituitary adenoma (somatotropinoma) and controls, to investigate its role in the incidence of acromegaly and to assess patient/tumor characteristics. Material and methods rs5780218 allelic and genotypic distributions were compared between 49 somatotropinoma patients and 167 healthy controls. rs5780218 was also assessed in relation to patient characteristics and tumor aggressiveness, as characterized by tumor invasion and resistance to conventional therapy. The relationship between KISS1 mRNA expression and the rs5780218 genotype was also assessed in available pituitary tumor samples.

Results: The homozygous -/- variant genotype was associated with high rates of somatotropinoma (P<0.01), but not with tumor invasiveness, patient characteristics or hormonal remission. KISS1 mRNA expression was much lower in somatotropinomas carrying the deleted allele than in homozygous wild type AA.

Conclusions: In this pilot study, the rs5780218 promoter polymorphism was evaluated in pituitary adenoma, and showed a possible association with the incidence of somatotropinoma but not with tumor progression.
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http://dx.doi.org/10.1016/j.ando.2018.09.007DOI Listing
April 2019

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Clin Genet 2019 01 28;95(1):172-176. Epub 2018 Oct 28.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, Brazil.

Molecular diagnosis is rarely established in 46,XX testicular (T) disorder of sex development (DSD) individuals with atypical genitalia. The Wilms' tumour factor-1 (WT1) gene is involved in early gonadal development in both sexes. Classically, WT1 deleterious variants are associated with 46,XY disorders of sex development (DSD) because of gonadal dysgenesis. We report a novel frameshift WT1 variant identified in an SRY-negative 46,XX testicular DSD girl born with atypical genitalia. Target massively parallel sequencing involving DSD-related genes identified a novel heterozygous WT1 c.1453_1456del; p.Arg485Glyfs*14 variant located in the fourth zinc finger of the protein which is absent in the population databases. Segregation analysis and microsatellite analysis confirmed the de novo status of the variant that is predicted to be deleterious by in silico tools and to increase WT1 target activation in crystallographic model. This novel and predicted activating frameshift WT1 variant leading to the 46,XX testicular DSD phenotype includes the fourth zinc-finger DNA-binding domain defects in the genetic aetiology of 46,XX DSD.
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http://dx.doi.org/10.1111/cge.13459DOI Listing
January 2019

Androgen receptor mRNA analysis from whole blood: a low-cost strategy for detection of androgen receptor gene splicing defects.

Clin Genet 2018 11 7;94(5):489-490. Epub 2018 Sep 7.

Laboratório de Hormônios e Genética Molecular, LIM/42, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Androgen insensitivity syndrome (AIS) is caused by defects in the androgen receptor (AR) gene and is the most common aetiology of 46,XY disorders of sex development. Allelic variants in the AR gene are found in 90% of complete AIS (CAIS), but in only 28% to 50% of cases of partial AIS. Even a single nucleic acid change can disrupt splicing sites or splicing regulatory sequences, resulting in inadequate exon and intron recognition, ultimately leading to an aberrant transcript. Therefore, we tested the feasibility of conducting AR cDNA analysis from whole blood and from gonadal tissue in a patient with CAIS due to AR synonymous mutation (c.1530C > T, p.Ser510Ser; NM_000044.3), which led to an aberrant splicing site causing deletion of 92 nucleotides resulting in a very short transcript. AR cDNA sequencing was similar in the whole blood and in the gonadal tissue, with similar evidence of a consequent altered AR transcript. We propose that analysis of AR RNA extracted from whole blood with AR DNA sequencing can help to improve the frequency of molecular diagnosis, particularly for partial AIS.
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http://dx.doi.org/10.1111/cge.13437DOI Listing
November 2018

Nonfunctioning Pituitary Adenoma Recurrence and Its Relationship with Sex, Size, and Hormonal Immunohistochemical Profile.

World Neurosurg 2018 Dec 20;120:e241-e246. Epub 2018 Aug 20.

Functional Neurosurgery Division, Psychiatric Institute - Ipq, Brazil.

Background: Tumor recurrence or incomplete resection in nonfunctioning pituitary adenomas (NFPAs) is relatively common. However, predictive factors of tumor recurrence in NFPAs are not well established. We evaluated possible factors related to tumor recurrence in a large cohort of NFPAs at a single pituitary neurosurgery center.

Methods: A retrospective analysis was conducted of 410 medical records of patients with NFPAs treated by transsphenoidal surgery between 2000 and 2014.

Results: Among the participants, 210 were female (51.0%). A total of 14.1% had giant adenomas. Null-cell pituitary adenomas (n = 239; 58.9%) were the most frequent, followed by silent gonadotroph adenomas (n = 112; 27.3%). Null-cell adenomas were more frequent in women (P = 0.008) and silent gonadotroph adenomas were more frequent in men (P = 0.004). Recurrence was not related to sex or age. Tumor recurrence occurred more often among silent corticotropic adenomas and giant adenomas (hazard ratio 2.45; P < 0.0001 and hazard ratio 2.35; P = 0.001, respectively). Silent thyrotrophic adenoma presented a comparable frequency of recurrence of silent corticotropic adenomas, despite having borderline significance (P = 0.07).

Conclusions: NFPA tumors have a high heterogeneous hormonal profile and may have prognostic importance. Silent corticotropic adenomas and giant adenomas present a high rate of recurrence.
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http://dx.doi.org/10.1016/j.wneu.2018.08.043DOI Listing
December 2018

Androgen insensitivity syndrome: a review.

Arch Endocrinol Metab 2018 Mar-Apr;62(2):227-235

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, SP, Brasil.

Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.
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http://dx.doi.org/10.20945/2359-3997000000031DOI Listing
July 2018

Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

Clin Endocrinol (Oxf) 2018 Aug 23;89(2):164-177. Epub 2018 May 23.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Background: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult.

Objective: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype and psychosexual adaptation.

Methods: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs).

Results: Age at first and last visit ranged from 0.1 to 43 and from 17 to 53 years, respectively. Spontaneous puberty was observed in 57% of the patients. During follow-up, six of them had a gonadectomy (four due to female gender, and two because of a gonadal tumour). At last evaluation, five of six patients had adult male testosterone levels (median 16.7 nmol/L, range 15.3-21.7 nmol/L) and elevated LH and FSH levels. Germ cell tumours were found in two postpubertal patients (one with an abdominal gonad and one patient with Frasier syndrome). Molecular diagnosis was possible in 11 patients (33%). NR5A1 variants were the most prevalent molecular defects (n = 6), and four of five patients harbouring them developed spontaneous puberty. Gender change was observed in four patients, two from each sex assignment group; all patients reported satisfaction with their gender at final evaluation. Sexual intercourse was reported by 81% of both gender and 82% of them reported satisfaction with their sexual lives.

Conclusion: Spontaneous puberty was observed in 57% of the patients with 46,XY PGD, being NR5A1 defects the most prevalent ones among all the patients and in those with spontaneous puberty. Gender change due to gender dysphoria was reported by 12% of the patients. All the patients reported satisfaction with their final gender, and most of them with their sexual life.
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http://dx.doi.org/10.1111/cen.13717DOI Listing
August 2018

Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor.

J Pediatr Endocrinol Metab 2018 Jan;31(2):223-228

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.

Background: Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by mutations in the androgen receptor (AR) gene. AIS patients present a broad phenotypic spectrum and individuals with a partial phenotype present with different degrees of undervirilized external genitalia. There are more than 500 different AR gene allelic variants reported to be linked to AIS, but the presence of somatic mosaicisms has been rarely identified. In the presence of a wild-type AR gene, a significant degree of spontaneous virilization at puberty can be observed, and it could influence the gender assignment, genetic counseling and the clinical and psychological management of these patients and the psychosexual outcomes of these patients are not known.

Case Presentation: In this study, we report two patients with AR allelic variants in heterozygous (c.382G>T and c.1769-1G>C) causing a partial AIS (PAIS) phenotype. The first patient was raised as female and she had undergone a gonadectomy at puberty. In both patients there was congruency between gender of rearing and gender identity and gender role.

Conclusions: Somatic mosaicism is rare in AIS and nonsense AR variant allelic can cause partial AIS phenotype in this situation. Despite the risk of virilization and prenatal androgen exposure, the gender identity and gender role was concordant with sex of rearing in both cases. A better testosterone response can be expected in male individuals and this should be considered in the clinical management.
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http://dx.doi.org/10.1515/jpem-2017-0095DOI Listing
January 2018

A severe phenotype of Kennedy disease associated with a very large CAG repeat expansion.

Muscle Nerve 2018 01 18;57(1):E95-E97. Epub 2017 Sep 18.

Developmental Endocrinology Unit, Laboratory of Hormones and Molecular Genetics LIM/42, Division of Endocrinology, University of Sao Paolo Medical School, Sao Paolo, Brazil.

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http://dx.doi.org/10.1002/mus.25952DOI Listing
January 2018

A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome.

J Steroid Biochem Mol Biol 2017 11 22;174:14-16. Epub 2017 Jul 22.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY disorders of sex development (46,XY DSD). This syndrome is an X-linked inheritance disease and it is caused by mutations in the human androgen receptor (AR) gene. Non-synonymous point AR mutations are frequently described in this disease, including in the complete phenotype. We present a novel synonymous mutation in the human AR gene (c.1530C > T) in four 46,XY patients from two unrelated families associated with complete androgen insensitivity syndrome (CAIS). The analysis of mRNA from testis showed that synonymous AR mutation changed the natural exon 1 donor splice site, with deletion of the last 92 nucleotides of the AR exon 1 leading to a premature stop codon 12 positions ahead resulting in a truncate AR protein. Linkage analyses suggested a probable founder effect for this mutation. In conclusion, we described the first synonymous AR mutation associated with CAIS phenotype, reinforcing the disease-causing role of synonymous mutations.
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http://dx.doi.org/10.1016/j.jsbmb.2017.07.020DOI Listing
November 2017

Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.

Sex Dev 2017 29;11(2):78-81. Epub 2017 Apr 29.

Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Laboratório de Hormônios e Genética Molecular (LIM/42), Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.

There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. This is the first report of a female patient with 47,XXY karyotype and PAIS phenotype.
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http://dx.doi.org/10.1159/000468957DOI Listing
March 2018

The role played by gender and age on poor sleep quality among institutionalized adolescents.

Sleep Breath 2017 Mar 19;21(1):197-202. Epub 2017 Jan 19.

Program in Adolescent Health, University of Pernambuco (UPE), Recife, PE, Brazil.

Purpose: The aim of this study was to analyze the prevalence and association between sleep quality with gender and age and to examine the relation between age and the components of the PSQI in institutionalized adolescents.

Methods: High school internal students of both genders, aged between 14 and 19 years old, were analyzed. After a full clinical evaluation, the Pittsburg Sleep Quality Index Score was obtained from all participants.

Results: We studied 210 participants [male: 15. 7 ± 1.2 years; BMI: 21.7 ± 2.6 kg/m; female: 15.7 ± 1. 2 years; BMI: 21.9 ± 4.5 kg/m]. Poor sleep quality was present in 137 (65.3%) participants and was predominant among girls than boys (PSQI = 76.3 vs 55.8%; p < 0.001), respectively. There were positive correlations between PSQI components with age in boys (sleep latency: R = 0.23; p = 0.02; sleep duration: R = 0.28; p < 0.01 and overall sleep quality: R = 0.21; p = 0.03), but not among girls.

Conclusion: Institutionalized girls have worse sleep quality than boys and positive correlations between sleep quality components with age were only present among boys.
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http://dx.doi.org/10.1007/s11325-017-1463-zDOI Listing
March 2017

Factors Associated With Delays in Chemotherapy Initiation Among Patients With Breast Cancer at a Comprehensive Cancer Center.

J Natl Compr Canc Netw 2016 12;14(12):1519-1526

From Department of Medical Oncology and Quality and Patient Safety, Dana-Farber Cancer Institute, Boston, Massachusetts; Oncoclinicas, Sao Paulo, Brazil; Department of General Surgery, Istanbul Medical School, Istanbul, Turkey; and Department of Surgery, Dana-Farber Cancer Institute/Brigham and Women's Hospital, Boston, Massachusetts.

Background: National guidelines endorse time-dependent quality metrics for breast cancer care. We examined factors associated with delays in chemotherapy initiation at an NCI-Designated Comprehensive Cancer Center.

Patients And Methods: We identified 523 patients who received postoperative adjuvant chemotherapy between January 2011 and December 2013 at our center. We defined 28 days from last definitive surgery (LDS) to chemotherapy as the target time frame, and an unacceptable delay in chemotherapy initiation (UCD) as greater than 42 days from LDS. Multivariate regression models were used to identify factors associated with UCD and the impact of Oncotype DX testing in patients with hormone receptor (HR)-positive breast cancer.

Results: Median days between LDS and chemotherapy initiation was 34 (interquartile range, 15), with 30% of patients starting within 28 days of LDS and 26.9% having UCD. Tumor characteristics such as subtype and stage affected UCD; patients with HR-positive or HER2-positive tumors were more likely to be delayed compared with those with triple-negative breast cancer. Patients with stage I disease, those undergoing mastectomy with or without immediate reconstruction, and those whose pathology sign-out was greater than 10 days postoperatively were more likely to be delayed. A higher proportion of UCD was found in HR-positive patients (31%) for whom Oncotype DX testing was ordered compared with those in whom it was not ordered (20%).

Conclusions: This study provides insight into subpopulations that may be at risk to experience delays in chemotherapy initiation, directing interventions to improve the timeliness of care.
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http://dx.doi.org/10.6004/jnccn.2016.0163DOI Listing
December 2016

Reprint of "Steroid 5α-reductase 2 deficiency".

J Steroid Biochem Mol Biol 2017 Jan 11;165(Pt A):95-100. Epub 2016 Nov 11.

Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8857, USA.

Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46,XY sex development, termed 5α-reductase type 2 deficiency and that was described forty years ago. Many mutations in the encoding gene have been reported in different ethnic groups. In affected 46,XY individuals, female external genitalia are common, but Mullerian ducts regress, and the internal urogenital tract is male. Most affected males are raised as females, but virilization occurs at puberty, and male social sex develops thereafter with high frequency. Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex.
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http://dx.doi.org/10.1016/j.jsbmb.2016.11.006DOI Listing
January 2017

Variation in the use of granulocyte-colony stimulating factor for dose dense paclitaxel: A single institution retrospective study.

Breast 2016 Dec 6;30:136-140. Epub 2016 Oct 6.

Department of Medical Oncology, Dana Farber Cancer Institute, 450 Brookline Avenue, Boston, MA 02215, USA. Electronic address:

Introduction: The necessity of using granulocyte-colony stimulating factor (G-CSF) during dose-dense (DD) paclitaxel (T) after doxorubicin and cyclophosphamide (AC) is unclear.

Methods: This was a retrospective cohort study including patients with stage I-III breast cancer treated at Dana-Farber Cancer Institute with adjuvant DD-ACT between January 2011 and December 2013. Descriptive analyses evaluating patterns of G-CSF utilization during T were performed.

Results: Overall, 156 patients were treated with DD-ACT by 26 providers. The majority of patients (135, 87%) received at least one dose of G-CSF during T (group 1), 17% of these patients received it in only one cycle and 48% received it in all four cycles. Reasons for omitting G-CSF included high baseline absolute neutrophil count and pain. Twenty-one (13%) patients did not receive any G-CSF during T (group 2). Respectively, 94% and 90% of patients completed the treatment in groups 1 and 2. There were no cases of treatment cessation due to neutropenia. Six percent of patients in group 1 had at least one treatment delay. There were no treatment delays reported in group 2. Variation in the use of G-CSF by provider and by patient was found, with 11 providers choosing not to use G-CSF in at least one patient.

Conclusions: We identified substantial variation in the use of G-CSF within the practice. However, omission of G-CSF was not associated with treatment delays or adverse events. Prospective studies are warranted to formally test whether routine G-CSF is necessary during dose-dense T therapy.
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http://dx.doi.org/10.1016/j.breast.2016.09.013DOI Listing
December 2016

Effect of Strength Training on Oxidative Stress and the Correlation of the Same with Forearm Vasodilatation and Blood Pressure of Hypertensive Elderly Women: A Randomized Clinical Trial.

PLoS One 2016 16;11(8):e0161178. Epub 2016 Aug 16.

Graduate Associate Program in Physical Education-Universidade Federal da Paraíba, João Pessoa, Brazil.

Unlabelled: The aim of the study was to evaluate the effect of strength training on oxidative stress and the correlation of the same with forearm vasodilatation and mean blood pressure of hypertensive elderly women, at rest (basal) and during a static handgrip exercise. Insufficiently active hypertensive elderly women (N = 25; mean age = 66.1 years) were randomized into a 10 week strength training group (n = 13) or control (n = 12) group. Plasma malondialdehyde (MDA), total antioxidant capacity (TAC), plasma nitrite (NO2-), forearm blood flow (FBF), mean blood pressure (MBP) and vascular conductance ([FBF / MBP] x 100) were evaluated before and after the completion of the interventions. The strength training group increased the TAC (pre: Median = 39.0; Interquartile range = 34.0-41.5% vs post: Median = 44.0; Interquartile range = 38.0-51.5%; p = 0.006) and reduced the MDA (pre: 4.94 ± 1.10 μM vs post: 3.90 ± 1.35 μM; p = 0.025; CI-95%: -1.92 --0.16 μM). The strength training group increased basal vascular conductance (VC) (pre: 3.56 ±0.88 units vs post: 5.21 ±1.28 units; p = 0.001; CI-95%: 0.93-2.38 units) and decreased basal MBP (pre: 93.1 ±6.3 mmHg vs post: 88.9 ±5.4 mmHg; p = 0.035; CI-95%: -8.0 --0.4 mmHg). Such changes were also observed during static handgrip exercise. A moderate correlation was observed between changes in basal VC and MBP with changes in NO2- (ΔVC → r = -0.56, p = 0.047; ΔMBP → r = -0.41, p = 0.168) and MDA (ΔVC → r = 0.64, p = 0.019; ΔMBP → r = 0.31, p = 0.305). The strength training program reduced the oxidative stress of the hypertensive elderly women and this reduction was moderately correlated with their cardiovascular benefits.

Trial Registration: ensaiosclinicos.gov.br RBR-48c29w.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0161178PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986983PMC
August 2017

Steroid 5α-reductase 2 deficiency.

J Steroid Biochem Mol Biol 2016 10 22;163:206-11. Epub 2016 May 22.

Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX 75390-8857, USA.

Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46,XY sex development, termed 5α-reductase type 2 deficiency and that was described forty years ago. Many mutations in the encoding gene have been reported in different ethnic groups. In affected 46,XY individuals, female external genitalia are common, but Mullerian ducts regress, and the internal urogenital tract is male. Most affected males are raised as females, but virilization occurs at puberty, and male social sex develops thereafter with high frequency. Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex.
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http://dx.doi.org/10.1016/j.jsbmb.2016.05.020DOI Listing
October 2016

Progression of an Invasive ACTH Pituitary Macroadenoma with Cushing's Disease to Pituitary Carcinoma.

Case Rep Oncol Med 2015 20;2015:810367. Epub 2015 Aug 20.

Neuroendocrinology Unit, Functional Neurosurgery Division, Hospital das Clinicas, Faculdade de Medicina, Universidade de São Paulo, Brazil.

Pituitary carcinomas are very rare tumors that in most cases produce prolactin and adrenocorticotropic hormone (ACTH). It is a challenge to diagnosis of a pituitary carcinoma before disclosed symptomatic metastasis. We report the case of a female patient with Cushing's disease who underwent three transsphenoidal surgeries, with pathological findings of common ACTH pituitary adenoma including Ki-67 expression <3%. She achieved hypocortisolism after the 3rd surgery although ACTH levels remained slightly elevated. The patient returned some time later with fast worsening of hypercortisolism. Magnetic resonance imaging showed clivus invasion, which led to a fourth surgery and radiation. This time, immunohistochemistry revealed strong Ki-67 (10% to 15%) and p53 expression. Liver and lumbar spine metastases were found on workup. The patient died after few months due to lung infection. Pituitary carcinomas are rare, and the transformation of an ACTH-secreting pituitary adenoma into a carcinoma is exceptional. The difficulty of defining markers for the diagnosis of carcinoma, before metastasis diagnosis, in order to change the management of the disease, is a challenge.
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http://dx.doi.org/10.1155/2015/810367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558441PMC
September 2015

Thickened Pituitary Stalk Associated with a Mass in the Sphenoidal Sinus: An Alarm to Suspect Hypophysitis by Immunoglobulin G4?

Int Arch Otorhinolaryngol 2015 Jul 5;19(3):273-6. Epub 2015 Mar 5.

Funcional Neurosurgery Unit, Universidade de São Paulo, São Paulo, SP, Brazil.

Introduction Hypophysitis is a chronic inflammation of the pituitary gland of complex and still incompletely defined pathogenesis. It belongs to the group of non-hormone-secreting sellar masses, sharing with them comparable clinical presentation and radiographic appearance. Objectives Describe the case of immunoglobulin G4 (IgG4)-related hypophysitis presenting as a mass in the sphenoid sinus. Resumed Report A 40-year-old Brazilian man had a diagnosis of central diabetes insipidus since 2001 associated with pituitary insufficiency. Pituitary magnetic resonance imaging revealed a centered pituitary stalk with focal nodular thickening and the presence of heterogeneous materials inside the sphenoid sinus. The patient was treated with testosterone replacement therapy. Laboratory results revealed increased IgG4 serum. Conclusion IgG4-related hypophysitis should be considered in patients with pituitary insufficiency associated with sellar mass and/or thickened pituitary stalk. IgG4 serum measurement for early diagnosis of IgG4-related hypophysitis should be performed.
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http://dx.doi.org/10.1055/s-0034-1397333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490927PMC
July 2015

Severe psychotic disorder as the main manifestation of adrenal insufficiency.

Case Rep Psychiatry 2015 12;2015:512430. Epub 2015 Apr 12.

Department of Internal Medicine, Faculty of Medicine of Jundiaí, Jundiaí, Brazil ; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (USP), Institute of Psychiatry, Dr. Ovidio Pires de Campos, 785-1 Andar, Ala Sul, Sala Chefias Médicas, 05403-010 São Paulo, SP, Brazil.

We describe a case of severe psychotic disorder as the only manifestation of primary adrenal insufficiency. A 63-year-old man presented with psychotic symptoms without any prior psychiatric history. During the clinical and laboratorial investigation, exams revealed a normovolemic hyponatremia. The patient showed no other clinical signs or symptoms compatible with adrenal insufficiency but displayed very high ACTH and low serum cortisol concentrations. Brain magnetic resonance imaging showed no significant changes, including the pituitary gland. The patient was initially treated with intravenous corticosteroids, resulting in rapid remission of the psychotic symptoms. The association between adrenal insufficiency and neuropsychiatric symptoms is rare but these symptoms can often be the first clinical presentation of the disease.
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http://dx.doi.org/10.1155/2015/512430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4410748PMC
May 2015

Influence of endurance and resistance exercise order on the postexercise hemodynamic responses in hypertensive women.

J Strength Cond Res 2015 Mar;29(3):612-8

1Research Group on Exercise Hemodynamics and Metabolism, School of Physical Education, University of Pernambuco, Pernambuco, Brazil; 2Exercise Hemodynamic Laboratory, School of Physical Education and Sport, University of São Paulo, São Paulo, Brazil; and 3School of Health and Sport Sciences, University of the Sunshine Coast, Queensland, Australia.

The study aims to evaluate the effects of the order of endurance and resistance exercises on postexercise blood pressure (BP) and hemodynamics in hypertensive women. Nineteen hypertensive women underwent 3 sessions: control (50 minutes rest), endurance (50-60% of heart rate reserve) followed by resistance exercise (50% of 1 repetition maximum) (E + R), and resistance followed by endurance exercise (R + E). Before and 30 minutes after each session, BP, peripheral vascular resistance, cardiac output, stroke volume, and heart rate were measured. Postexercise increases in systolic (E + R: +1 ± 3 mm Hg and R + E: +3 ± 3 mm Hg), diastolic (E + R: +3 ± 1 mm Hg and R + E: +3 ± 2 mm Hg), and mean BP (E + R: +3 ± 1 mm Hg and R + E: +3 ± 2 mm Hg) were significantly lower after the exercise sessions compared with the control session (p ≤ 0.05). The exercise sessions abolished the increases in peripheral vascular resistance (E + R: +0.00 ± 0.04 mm Hg·min·L and R + E: +0.05 ± 0.05 mm Hg·min·L) and the decreases in cardiac output (E + R: +0.04 ± 0.28 L·min and R + E: -0.26 ± 0.28 L·min) observed after the control session (p ≤ 0.05). After the exercise sessions, stroke volume decreased (E + R: -14 ± 3 ml and R + E: -9 ± 4 ml) and heart rate increased (E + R: +5 ± 1 b·min and R + E: +4 ± 1 b·min) in comparison with the control session (p ≤ 0.05). For all the variables, there were no significant differences between the exercise sessions. Regardless of the order of endurance and resistance exercises, combined exercise sessions abolished increases in BP observed in a control condition due to a reduction in peripheral vascular resistance and increases in cardiac output. Thus, combined exercises should be prescribed to individuals with hypertension to control their BP, regardless of the order they are accomplished.
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http://dx.doi.org/10.1519/JSC.0000000000000676DOI Listing
March 2015