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1.
Hum Reprod ; 36(11): 2871-2882, 2021 10 18.
Article in English | MEDLINE | ID: mdl-34529796

ABSTRACT

STUDY QUESTION: What are the characteristics of patients with conceptions transplanted in childhood and adolescence? SUMMARY ANSWER: Insemination and conception after hematopoietic stem cell transplantation (HCT) in childhood or adolescence was possible, even after myeloablative conditioning regimes, although some patients required reproductive medicine support. WHAT IS KNOWN ALREADY: Preparative regimens of HCT are highly gonadotoxic, which leads to gonadal failure and pubertal development disorders. There are few population-based studies assessing the risk of future infertility in children after HCT. STUDY DESIGN, SIZE, DURATION: We conducted a retrospective study to investigate natural or assisted conceptions and their outcomes in patients <18 years old before their first transplantation who received HCT between 1995 and 2016 and were in the European Society for Blood and Marrow Transplantation (EBMT) registry. Adoptions were excluded from the analysis. PARTICIPANTS/MATERIALS, SETTING, METHODS: Detailed information concerning pregnancy occurrences and outcomes were obtained by a separate questionnaire. Quantitative variables were presented as medians with their interquartile range (IQR) or range, and categorical variables were presented as frequencies and percentages. MAIN RESULTS AND THE ROLE OF CHANCE: In total, 62 988 pediatric patients received a first HCT in EBMT centers between 1995 and 2016. Pregnancy was reported in 406 patients in the database. The median age at transplantation was 15.7 (range: 0.7-18) years, and the median age at declared conception was 25.0 (range: 16.3-38.8) years. Details concerning the first pregnancy and pregnancy outcome were obtained from 99 patients (24%) from the returned questionnaires. The median age at delivery or pregnancy interruption of the females was 23.0 (IQR: 20.8-27) years, with a median time after transplant of 10.7 (IQR: 6.6-15.4) years. Compared with the mean age of healthy women at their first child's birth (29 years old), the transplanted women delivered 5 years earlier (mean: 24.3 years). In terms of conception modality, 13/25 (52%) females conditioned with total body irradiation (TBI) and 50/52 (96%) of those conditioned without TBI conceived naturally. All seven male patients who had been conditioned with TBI achieved fatherhood but required assisted fertilization or used their cryopreserved sperm. In the females, 63/70 (90%) of all conceptions resulted in a live birth, 49/63 (84.5%) were at term and 43/46 (93%) had normal birthweight. Cesarean delivery was performed in 9/61 (15%) especially in women who had received a myeloablative regimen. LIMITATIONS, REASONS FOR CAUTION: In the EBMT pediatric dataset, the age at last follow-up or death was <17 years for 75% of the patients, therefore a longer follow-up for all patients would be necessary to calculate the cumulative incidence of conception for patients transplanted during childhood and allow all patients to realize their reproductive willingness/potential. WIDER IMPLICATIONS OF THE FINDINGS: Reproductive health surveillance and fertility preservation counseling are important in younger transplanted patients. Our results showed that there is a window of opportunity to conceive naturally or with reproductive medicine support. STUDY FUNDING/COMPETING INTEREST(S): Funding was provided by the 'Stiftung für krebskranke Kinder Regio Basiliensis', Basel, Switzerland. All authors have no conflicts of interest to declare. TRIAL REGISTRATION NUMBER: N/A.


Subject(s)
Hematopoietic Stem Cell Transplantation , Pregnancy Outcome , Adolescent , Adult , Child , Cross-Sectional Studies , Female , Hematopoietic Stem Cell Transplantation/adverse effects , Humans , Live Birth , Male , Pregnancy , Retrospective Studies
2.
Clin. biomed. res ; 34(3): 266-273, 2014. tab
Article in Portuguese | LILACS | ID: biblio-834467

ABSTRACT

Introdução: É frequente a associação de v¨¢rios medicamentos para controlardoenças em pacientes crônicos. Contudo, a adesão medicamentosa ¨¦ vari¨¢vel, eos fatores associados diferem, não havendo dados uniformes sobre o assunto.M¨¦todos: Estudo transversal em pacientes do ambulat¨®rio de Medicina Interna deum hospital terci¨¢rio, maiores de 18 anos, com duas ou mais doenças crônicas,visando a estimar a adesão medicamentosa pela Escala de Adesão Medicamentosade Morisky. Fatores associados ¨¤ adesão foram avaliados pela regressão dePoisson. O controle das doenças crônicas foi avaliado e definido como alvosatingidos de hipertensão, diabetes e dislipidemia.Resultados: Um total de 170 pacientes (idade m¨¦dia 65¡À9,8 anos), 61 homens(36%), foram inclu¨ªdos. Sessenta e sete pacientes tinham at¨¦ 4 anos de estudo;uma renda menor que mil reais foi referida por 56 pacientes. O n¨²mero m¨¦diode comorbidades foi 4¡À1,14, sendo hipertensão arterial sist¨ºmica a doença maisprevalente (96,5%), seguido de diabetes mellitus tipo 2 (67%). Cada paciente usava7,5¡À2,5 medicamentos. A taxa de controle das doenças crônicas mais prevalentesfoi: hipertensão arterial sist¨ºmica 72% (IC95% 65-79%), diabetes mellitus 53%(IC95%: 42¨C63%) e dislipidemia 51% (IC95% 41¨C61%). A preval¨ºncia de m¨¦dia ealta adesão foi 43%. Os fatores que se associaram independentemente ¨¤ adesãomedicamentosa foram pr¨¢tica de exerc¨ªcio f¨ªsico (RP= 1,63; IC 95%: 1,09¨C2,44;p= 0,017) e idade (RP= 1,02; IC 95%: 1,00¨C1,03; p= 0,032).Conclusão: Menos da metade dos pacientes do ambulat¨®rio de Medicina Internaadere ¨¤ prescrição m¨¦dica. É necess¨¢rio instituir novas estrat¨¦gias para que ospacientes se beneficiem das prescrições de medicamentos.


Introduction: The combination of several medications to control diseases inchronic patients is very common. However, medication adherence is variable, andassociated factors differ. Besides, there is no uniform data on this subject.Methods: Cross-sectional study in an outpatient Internal Medicine Service of atertiary care hospital, with patients ¡Ý 18 years old with two or more chronic diseases,aimed at assessing medication adherence using the Morisky Medication AdherenceScale. Factors associated with adherence were assessed by Poisson regression.The control of hypertension, diabetes and dyslipidemia was assessed.Results: A total of 170 patients (mean age 65¡À9.8 years), 61 of them men (36%), wasincluded. Sixty-seven patients had up to 4 years of study, and 56 patients reporteda monthly income of less than a thousand Brazilian reais. The average number ofcomorbidities was 4¡À1.14. Hypertension was the most prevalent disease (96.5%),followed by type 2 diabetes mellitus (67%). Each patient used 7.5 ¡À 2.5 medications.The control rate of the most prevalent chronic diseases was: hypertension 72%(95% CI 65-79%), diabetes mellitus 53% (95% CI 42-63%), and dyslipidemia 51%(95% CI 41-61%). The prevalence of medium and high adherence was 43%. Thefactors independently associated with medication adherence were physical exercise(PR = 1.63; 95%CI: 1.09-2.44; p= 0.017) and age (PR= 1.02; 95%CI: 1.00-1.03; p=0.032).Conclusion: Less than half of the chronic clinical patients adheres to the prescription.It is necessary to establish new strategies for patients to benefit from prescriptionmedication.


Subject(s)
Humans , ADES&ATILDE , O ¨N MEDICA&CCEDIL , &ATILDE , Cross-Sectional Studies , Diabetes Mellitus/drug therapy , Dyslipidemias/drug therapy , /drug therapy , DOEN&CCEDIL , A CR&OCIRC , /drug therapy , HIPERTENS&ATILDE , COOPERA&CCEDIL , &ATILDE , EDUCA&CCEDIL , &ATILDE , Motor Activity
3.
Bone Marrow Transplant ; 43(12): 953-7, 2009 Jun.
Article in English | MEDLINE | ID: mdl-19363530

ABSTRACT

Post-BMT subjects have an increased bone fracture risk. Additionally, several factors were associated with osteopenia and osteoporosis in these individuals. We aimed to identify other factors associated with osteopenia and osteoporosis in allogeneic post-BMT subjects. We conducted a cross-sectional study with 47 allogeneic post- BMT subjects. Serum 25-hydroxyvitamin D (25(OH)D), parathyroid hormone, ferritin, vitamin B(12), insulin, glucose, cholesterol and triglyceride levels were measured. Insulin resistance and secretion were estimated through the homeostatic model assessment for insulin resistance (HOMA-IR) and homeostatic model assessment for beta-cell function (HOMA-B), respectively. A bone densitometry (BMD) was also obtained. The median time after BMT was 47.7 (12-115) months. Osteoporosis was identified in 17.0% of the subjects and osteopenia in 19.7%. The mean serum ferritin (P=0.002), insulin (P<0.0001), glucose (P=0.003) and triglyceride (P=0.018) levels were higher in individuals with osteopenia/osteoporosis. HOMA-IR (P<0.0001) and HOMA-B (P<0.0001) were increased in post-BMT subjects with osteopenia/osteoporosis. There was no other factor associated with the outcome. After adjustments ferritin, serum 25(OH)D and HOMA-IR remained independently associated with osteopenia/osteoporosis; however triglycerides no longer were. In conclusion, in the present study, low serum 25(OH)D levels, high serum ferritin levels and insulin resistance were associated with osteopenia/osteoporosis in post-BMT subjects.


Subject(s)
Bone Density , Bone Marrow Transplantation/adverse effects , Insulin Resistance , Adolescent , Adult , Bone Diseases, Metabolic/diagnosis , Bone Diseases, Metabolic/therapy , Cross-Sectional Studies , Female , Ferritins/blood , Follow-Up Studies , Humans , Male , Middle Aged , Osteoporosis/diagnosis , Osteoporosis/therapy , Risk Factors , Transplantation, Homologous , Treatment Outcome , Vitamin D/analogs & derivatives , Vitamin D/blood
4.
J Endocrinol Invest ; 31(7): 614-7, 2008 Jul.
Article in English | MEDLINE | ID: mdl-18787379

ABSTRACT

UNLABELLED: Maternal euthyroidism is important for fetal neural development. For this reason, adequate iodine nutrition during pregnancy is an important public health objective and should be periodically revised. The objective of this study was to measure urinary iodine (UI) excretion and the factors associated with thyroid volume (TV), in a group of healthy pregnant women in southern Brazil, to evaluate iodine nutrition. The median UI of the 147 women was 224 microg/l (P25=164 microg/l and P75=286 microg/l). Serum levels of free T4 and thyroglobulin did not correlate with UI, but there was a weak inverse correlation between serum TSH levels and UI (r=-0.200; p=0.02). TV, calculated through ultrasound in 57 women, was significantly associated with family history of thyroid diseases (p=0.002) and BMI (p=0.03), but there was no association with UI, corrected or not for creatinine, serum free T4, TSH or thyroglobulin, current or past smoking, gestational age, parity or oral contraceptive. CONCLUSIONS: The healthy pregnant women studied had adequate iodine intake. In this situation, the main thyroid size determinants are probably genetic factors.


Subject(s)
Diet , Iodine/metabolism , Maternal Nutritional Physiological Phenomena , Thyroid Diseases/blood , Thyroid Gland/anatomy & histology , Adult , Brazil , Cross-Sectional Studies , Female , Gestational Age , Humans , Pregnancy , Thyroglobulin/blood , Thyroid Diseases/urine , Thyroid Gland/diagnostic imaging , Thyroxine/blood , Triiodothyronine/blood , Ultrasonography , Young Adult
5.
J Endocrinol Invest ; 31(11): 991-5, 2008 Nov.
Article in English | MEDLINE | ID: mdl-19169055

ABSTRACT

OBJECTIVES: To evaluate the prevalence of hypovitaminosis D and secondary hyperparathyroidism in resident physicians of a general hospital in southern Brazil and identify associated factors. DESIGN: Cross-sectional study. POPULATION: Resident physicians of Hospital de Clinicas de Porto Alegre, Porto Alegre, southern Brazil. PARTICIPANTS: Seventythree subjects age 26.4+/-1.9. MEASUREMENTS: Serum PTH, 25- hydroxyvitamin D [25(OH)D], total calcium, phosphorus, magnesium, creatinine, and alkaline phosphatase were measured. In addition calcium, creatinine, and magnesium were measured in urine. Fractional excretion of calcium and magnesium were calculated. Calcium intake was estimated by a food intake questionnaire. RESULTS: Mean serum levels of 25(OH)D were 17.9+/-8.0 ng/ml and 57.4% presented 25(OH)D below 20 ng/ml. Secondary hyperparathyroidism, defined as serum PTH > or =48 pg/ml and normal or low serum calcium, was identified in 39.7% of the individuals. Mean serum levels of magnesium were higher (p=0.02) and the fractional excretion of calcium was lower (p<0.001) in individuals with secondary hyperparathyroidism. Serum PTH levels were positively correlated with body mass index (r=0.33 and p=0.006) and serum magnesium levels (r=0.33 and p=0.02) and negatively correlated with serum 25(OH)D levels (r=-0.33 and p=0.008), estimated calcium intake (r=-0.25 and p=0.04), and fractional excretion of calcium (r=-0.34 and p=0.009). CONCLUSION: Vitamin D deficiency and secondary hyperparathyroidism was very common in resident physicians. Therefore, measures to prevent this situation should be recommended.


Subject(s)
Hyperparathyroidism, Secondary/epidemiology , Internship and Residency , Parathyroid Hormone/blood , Vitamin D Deficiency/epidemiology , Vitamin D/analogs & derivatives , Adult , Body Mass Index , Brazil/epidemiology , Calcium/blood , Calcium/urine , Calcium, Dietary/administration & dosage , Cross-Sectional Studies , Female , Hospitals, General , Humans , Magnesium/blood , Male , Prevalence , Vitamin D/blood
6.
J Endocrinol Invest ; 25(1): 39-43, 2002 Jan.
Article in English | MEDLINE | ID: mdl-11885575

ABSTRACT

The role of ultrasonography (US) in the diagnosis of cancer in thyroid nodules is not well-established. The aim of the present study was to evaluate US performance in predicting cancer in thyroid nodules using a novel approach. Two hundred and eighty-nine patients with thyroid nodular disease were evaluated with clinical, biochemical and cytopathological examinations. Eighty patients with palpable solitary thyroid nodules or multinodular goiters who were to undergo surgery were included, and had a US exam performed by one of us. Some US characteristics of thyroid nodules were associated to cancer: absent halo, hypoechogenicity and microcalcifications, with sensitivity, respectively, of 56, 44 and 56%, and specificity of, respectively, 80, 83 and 94%. These findings were considered positive and were studied in two different combinations: simultaneous, when two or more were positive, and parallel, when any positive finding was present. When positive findings were studied simultaneously, sensitivity ranged 25 to 38% and specificity ranged 89 to 97%. Microcalcifications, associated or not to other findings, were highly specific for thyroid cancer, but they were only present in half of the malignancies. When positive findings were studied in parallel, sensitivity ranged 69 to 81% and specificity ranged 70 to 81%. The parallel combination of hypoechogenicity or microcalcifications or absent halo improved US sensitivity to 81% with an acceptable specificity (70%). This method is potentially useful to help us select patients for surgery when fine-needle aspiration biopsy is repetitively non-diagnostic or select for biopsy incidentally discovered non-palpable nodules.


Subject(s)
Thyroid Neoplasms/diagnostic imaging , Thyroid Nodule/diagnostic imaging , Adenocarcinoma, Follicular/diagnostic imaging , Adult , Carcinoma/diagnostic imaging , Carcinoma, Papillary/diagnostic imaging , Diagnosis, Differential , Female , Goiter, Nodular/diagnostic imaging , Humans , Male , Middle Aged , Prospective Studies , Sensitivity and Specificity , Ultrasonography
7.
Cancer Res ; 61(20): 7616-22, 2001 Oct 15.
Article in English | MEDLINE | ID: mdl-11606402

ABSTRACT

Familial adenomatous polyposis, an autosomal-dominantly inherited colorectal cancer predisposition syndrome, is caused by germ-line mutations in the adenomatous polyposis coli (APC) gene. Despite the use of different screening methods, studies worldwide fail to identify APC mutations in 20-50% of all familial adenomatous polyposis patients (APC mutation-negatives). In this study, missense mutations in the coding region of the APC gene, which would have been missed by the protein truncation test, as well as mutations in the APC promoter and the 3' untranslated region, were determined by the single nucleotide polymorphism discovery assay and direct DNA sequencing in 31 mutation-negative polyposis patients. Seventeen gene alterations were identified, whereof four (12.9%) represent possibly pathogenic germ-line mutations: silent A290T (promoter) and A8822G (3' untranslated region) as well as missense R99W and E1317Q (coding region). The 27 remaining, truly APC mutation-negative polyposis patients displayed a significantly later age at diagnosis compared with APC mutation carriers (46.1 versus 35.2 years; P < 0.01). APC mutation-negative individuals with >100 colonic polyps were more likely to present with extracolonic disease (P < 0.05) than those with <100. Assessment of microsatellite instability (MSI), a hallmark of mismatch repair deficiency, in 68 tumors from 21 truly APC mutation-negative patients, identified 4 (5.9%) unstable tubulo-villous adenomas (3 MSI-High and 1 MSI-Low), stemming from 4 (19%) unrelated individuals and likely to be caused by hMLH1 promoter hypermethylation. In conclusion, only a small proportion of APC germ-line mutation carriers is missed by the protein truncation test, and mismatch repair deficiency does not seem to substantially contribute to tumor development in APC mutation-negative polyposis patients.


Subject(s)
Adenomatous Polyposis Coli/genetics , Base Pair Mismatch , DNA Repair , Genes, APC/genetics , Germ-Line Mutation , 3' Untranslated Regions/genetics , Adult , Aged , Female , Humans , Male , Microsatellite Repeats/genetics , Middle Aged , Phenotype , Promoter Regions, Genetic/genetics
8.
Braz J Infect Dis ; 5(2): 53-9, 2001 Apr.
Article in English | MEDLINE | ID: mdl-11493409

ABSTRACT

Adrenocortical insufficiency is a serious complication of AIDS. Usually, integrity of the hypothalamo-pituitary-adrenal (HPA) axis in AIDS patients is assessed by measuring basal cortisol levels and cortisol response to 250 microg of ACTH. Recent studies suggest that a lower ACTH dose increases the sensitivity of the procedure. In the present study, we investigated the prevalence of adrenal hypofunction in AIDS patients using a low-dose ACTH test (1 microg), evaluated the clinical characteristics that might suggest this diagnosis, and the diseases and/or drugs that could be associated with it. We prospectively evaluated 63 very ill AIDS patients and 16 normal controls. A standard examination assessed the presence of signs and symptoms of adrenal insufficiency. Blood samples were collected before and 30 and 40 minutes after an injection of 1 microg 1-24 ACTH. No opportunistic disease, signs, symptoms or drugs were associated with an abnormal cortisol response to ACTH. The lowest stimulated cortisol level in the control group was 18.5 microg/dL; cortisol levels > or = 18 microg/dL were taken to indicate a normal HPA axis. Test results revealed that 12/63 AIDS patients (19%) had an abnormal HPA axis. With these data in mind, we suggest a prospective adrenal function evaluation of all severely ill AIDS patients.


Subject(s)
Acquired Immunodeficiency Syndrome/complications , Adrenal Insufficiency/epidemiology , Adrenocorticotropic Hormone/administration & dosage , Acquired Immunodeficiency Syndrome/physiopathology , Adolescent , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/etiology , Adult , Case-Control Studies , Diagnosis, Differential , Dose-Response Relationship, Drug , Female , Humans , Hydrocortisone/blood , Male , Middle Aged , Pituitary-Adrenal Function Tests , Prospective Studies
9.
Braz J Med Biol Res ; 34(2): 259-63, 2001 Feb.
Article in English | MEDLINE | ID: mdl-11175503

ABSTRACT

Estradiol has well-known indirect effects on the thyroid. A direct effect of estradiol on thyroid follicular cells, increasing cell growth and reducing the expression of the sodium-iodide symporter gene, has been recently reported. The aim of the present investigation was to study the effect of estradiol on iodide uptake by thyroid follicular cells, using FRTL-5 cells as a model. Estradiol decreased basal iodide uptake by FRTL-5 cells from control levels of 2.490 +/- 0.370 to 2.085 +/- 0.364 pmol I-/microg DNA at 1 ng/ml (P<0.02), to 1.970 +/- 0.302 pmol I-/microg DNA at 10 ng/ml (P<0.003), and to 2.038 +/- 0.389 pmol I-/microg DNA at 100 ng/ml (P<0.02). In addition, 4 ng/ml estradiol decreased iodide uptake induced by 0.02 mIU/ml thyrotropin from 8.678 +/- 0.408 to 7.312 +/- 0.506 pmol I-/microg DNA (P<0.02). A decrease in iodide uptake by thyroid cells caused by estradiol has not been described previously and may have a role in goiter pathogenesis.


Subject(s)
Estradiol/pharmacology , Iodides/metabolism , Thyroid Gland/drug effects , Thyrotropin/pharmacology , Analysis of Variance , Animals , Cell Culture Techniques , Cells, Cultured , Rats , Statistics, Nonparametric , Thyroid Gland/cytology , Thyroid Gland/metabolism
10.
Braz. j. med. biol. res ; 34(2): 259-263, Feb. 2001.
Article in English | LILACS | ID: lil-281605

ABSTRACT

Estradiol has well-known indirect effects on the thyroid. A direct effect of estradiol on thyroid follicular cells, increasing cell growth and reducing the expression of the sodium-iodide symporter gene, has been recently reported. The aim of the present investigation was to study the effect of estradiol on iodide uptake by thyroid follicular cells, using FRTL-5 cells as a model. Estradiol decreased basal iodide uptake by FRTL-5 cells from control levels of 2.490 0.370 to 2.085 0.364 pmol I-/æg DNA at 1 ng/ml (P<0.02), to 1.970 0.302 pmol I-/æg DNA at 10 ng/ml (P<0.003), and to 2.038 0.389 pmol I-/æg DNA at 100 ng/ml (P<0.02). In addition, 4 ng/ml estradiol decreased iodide uptake induced by 0.02 mIU/ml thyrotropin from 8.678 0.408 to 7.312 0.506 pmol I-/æg DNA (P<0.02). A decrease in iodide uptake by thyroid cells caused by estradiol has not been described previously and may have a role in goiter pathogenesis


Subject(s)
Animals , Rats , Estradiol/pharmacology , Iodides/metabolism , Thyroid Gland/cytology , Thyrotropin/pharmacology , Analysis of Variance , Cell Culture Techniques , Cells, Cultured , Statistics, Nonparametric , Thyroid Gland/drug effects
11.
Rev. Assoc. Med. Bras. (1992) ; 46(4): 331-334, out.-dez. 2000. tab
Article in Portuguese | LILACS | ID: lil-277316

ABSTRACT

Nódulos de tireóide säo uma condiçäo clínica comum e em seu diagnóstico diferencial inclui-se o câncer de tireóide. Como o câncer de tireóide é raro, é importante conhecer a prevalência de nódulos de tireóide em grupos fortemente pre-dispostos para dimensionar seu impacto e adequar estratégias diagnósticas. OBJETIVOS: O objetivo deste estudo foi verificar a prevalência de nódulos de tireóide diagnosticados por ecografia em mulheres na maturidade. MÉTODOS: Entre agosto de 1996 e dezembro de 1997 foram avaliadas, de forma consecutiva, pacientes do sexo feminino com idade de 40 anos ou mais que realizavam ecografia no Serviço de Radiologia do HCPA...


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Thyroid Neoplasms , Thyroid Nodule , Age Factors , Brazil/epidemiology , Thyroid Neoplasms/epidemiology , Thyroid Nodule/epidemiology
12.
Mol Genet Metab ; 71(3): 520-6, 2000 Nov.
Article in English | MEDLINE | ID: mdl-11073720

ABSTRACT

Resistance to thyroid hormone (RTH) is an inherited syndrome of reduced tissue responsiveness to thyroid hormone (T3) caused by mutations in the thyroid hormone receptor beta (TRbeta). The index patient of the family reported here, a 17-year-old woman, came to medical attention because of a diffuse goiter, short stature, and learning disabilities. Biochemical tests revealed an elevated free T4 of 5.2 ng/dl (0.8-2.1), a T3 of 270 ng/dl (80-220), and a nonsuppressed TSH of 1.79 mU/l (0.4-4). Administration of exogenous T4 or T3 did not result in the usual TSH suppression, prompting the clinical diagnosis of RTH. Her father and one of her brothers also had clinical and biochemical findings consistent with RTH. Direct sequence analysis of the TRbeta gene revealed a heterozygous transition 928A>G in exon 9 resulting in substitution of methionine 310 by leucine (M310L). This novel receptor mutant has a reduced affinity for T3 ( approximately 10% of normal) and dominant negative properties that are similar in comparison to other RTH mutations. The index patient had a normal pregnancy and delivery. At birth, the female neonate had no goiter, a significantly elevated T4, and increased TSH. The diagnosis of RTH was confirmed by sequencing the TRbeta gene. She was underweight at birth and her length was between the 5th and 10th percentile. At 26 months, her height remained at the 10th percentile but her bone age was 18 months, suggesting mild hypothyroidism at the level of the bone. In contrast, increased heart rate and restlessness are consistent with hyperthyroidism in other tissues, such as the heart and possibly the brain.


Subject(s)
Receptors, Thyroid Hormone/genetics , Thyroid Hormone Resistance Syndrome/genetics , Adolescent , Amino Acid Substitution , Base Sequence , Binding, Competitive , Brazil , Cell Line , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Dose-Response Relationship, Drug , Family Health , Female , Gene Expression Regulation/genetics , Heterozygote , Humans , Infant, Newborn , Male , Mutation , Pedigree , Point Mutation , Receptors, Thyroid Hormone/metabolism , Recombinant Fusion Proteins/genetics , Recombinant Fusion Proteins/metabolism , Thyroid Hormone Resistance Syndrome/pathology , Transfection , Triiodothyronine/metabolism , Triiodothyronine/pharmacology
13.
J Endocrinol Invest ; 23(8): 496-501, 2000 Sep.
Article in English | MEDLINE | ID: mdl-11021764

ABSTRACT

The prevalence of post-partum thyroiditis (PPT) has been reported in several countries (1.9 to 16.7%) but is not known in Brazil. Several factors have been associated to its development, such as a female sex of the newborn, PPT in a previous pregnancy, a family history of thyroid disease and cigarette smoking. To investigate the prevalence of PPT and its risk factors in a southern Brazilian city, a three-cross-sectional observation study was performed. PPT was diagnosed in 14/284 subjects (5.3%) and all cases had thyrotoxicosis (13 sub-clinical and one clinical). Serum total T4 and free T4 were higher and serum TSH was lower in PPT subjects. Anti-thyroid antibodies were positive in 16.7% of PPT subjects and in 4.5% of those with no thyroid dysfunction. Goiter was identified in 14.3% of PPT subjects and in 15% of no PPT subjects. Thyroid was hardened more frequently in PPT subjects (21.4%) than in others (5.2%). Male sex of the newborn was associated to PPT, increasing 11 times the risk of PPT. Cigarette smoking was associated to PPT in group II subjects. There was no clinical sign or symptom able to contribute to this diagnosis, except the presence of hardened thyroid. Based on these findings, PPT, manifesting itself as mild thyrotoxicosis, is a common problem in southern Brazil and is associated to male sex of the newborn.


Subject(s)
Puerperal Disorders/epidemiology , Thyroiditis/epidemiology , Thyrotoxicosis/epidemiology , Adult , Autoantibodies/blood , Brazil/epidemiology , Cross-Sectional Studies , Female , Humans , Male , Prospective Studies , Puerperal Disorders/diagnosis , Risk Factors , Smoking , Thyroid Diseases/genetics , Thyroid Gland/immunology , Thyroiditis/diagnosis , Thyrotoxicosis/diagnosis , Thyrotropin/blood , Thyroxine/blood
14.
Rev Assoc Med Bras (1992) ; 46(4): 331-4, 2000.
Article in Portuguese | MEDLINE | ID: mdl-11175568

ABSTRACT

OBJECTIVES: Thyroid nodules constitute a very common clinical problem and the differential diagnosis includes thyroid cancer. As thyroid cancer is rare, it is important to know the prevalence of thyroid nodules in cohorts strongly predisposed to this problem to be able to measure its impact on the health care system, and to devise appropriate diagnostic strategies. The aim of this study was to determine the prevalence of thyroid nodules in women 40 year-old or older by echography. METHODS: Between August 1996 and December 1997, 207 women, 40 year-old or older, were consecutively evaluated by thyroid echography in the Radiology Division of the Hospital de Clínicas de Porto Alegre. Patients who came to the Division to be submitted to thyroid echography were excluded. The mean age of patients studied was 54.7 years (median: 53, range: 40-86 years). One hundred and twenty three patients (54.9%) had a normal thyroid and eighty-two had an abnormal gland (39.6%). Thyroid nodules were detected in seventy-three women (35.3%) and these were larger than 1 cm in 35 women (16.9%). Women without thyroid nodules were younger (53.1 +/-10.7 years) than women with thyroid nodules (58.2 +/-10.6 years) p=0.001; and the prevalence of any thyroid nodule (p=0.001) or nodules larger than 1 cm (p=0.007) increased with age. CONCLUSIONS: Thyroid nodules are very common in women 40 year-old or older, their prevalence increases with age in this cohort and these nodules are potentially palpable (larger than one cm) in one of six women in this age group It is important to have these data in mind when ordering thyroid echographic studies in women 40 year-old or older.


Subject(s)
Thyroid Nodule/diagnostic imaging , Adult , Age Factors , Aged , Analysis of Variance , Brazil/epidemiology , Female , Humans , Male , Middle Aged , Prevalence , Thyroid Nodule/epidemiology , Ultrasonography
15.
Endocrinology ; 140(12): 5705-11, 1999 Dec.
Article in English | MEDLINE | ID: mdl-10579335

ABSTRACT

Goiter (increased thyroid gland size) is more prevalent in women than men, even in areas where iodine levels in the diet are sufficient. We investigated a possible role of estrogen on thyroid follicular cell growth using rat FRTL-5 thyroid follicular cells as a model. Estrogen receptor-alpha (ERalpha) messenger RNA was present in FRTL-5 cells using a RT-PCR assay and was confirmed by Western blot analysis. An estrogen-responsive reporter gene was transfected into FRTL-5 cells to test the functionality of the endogenous ERs. Estradiol increased the activity of the reporter gene, and the antagonist, ICI182780, inhibited ER-dependent transcription. To extend this analysis, we examined the effect of estradiol on FRTL-5 cell growth. Estradiol increased FRTL-5 cell growth in a time- and concentration-dependent manner in either the absence or presence of TSH. Because iodine is known to inhibit thyroid cell growth, the effect of estradiol on the expression of the sodium/iodide symporter (NIS) was assessed as a potential target of estrogen action. Estradiol blocked TSH-induced NIS expression, and treatment of cells with estradiol and ICI182780 restored TSH-induced NIS expression to normal levels. These data demonstrate that FRTL-5 cells contain functional ERs that enhance cell growth and inhibit expression of the NIS. The demonstration of a direct effect of estradiol on thyroid follicular cells raises the possibility that it may play a role in the sexually dimorphic prevalence of goiter.


Subject(s)
Carrier Proteins/genetics , Cell Division/drug effects , Estradiol/pharmacology , Gene Expression Regulation/drug effects , Membrane Proteins/genetics , Symporters , Thyroid Gland/metabolism , Animals , Blotting, Western , Cell Line , Estradiol/analogs & derivatives , Estrogen Antagonists/pharmacology , Fulvestrant , RNA, Messenger/analysis , Rats , Receptors, Estrogen/genetics , Receptors, Estrogen/physiology , Reverse Transcriptase Polymerase Chain Reaction , Thyroid Gland/chemistry , Thyrotropin/pharmacology
16.
Braz J Med Biol Res ; 19(6): 715-22, 1986.
Article in English | MEDLINE | ID: mdl-3307959

ABSTRACT

1. Various aspects of carbohydrate metabolism were evaluated in rats exhibiting chronic uremia induced by the surgical removal of 5/6 of the kidneys (NX group). Operated rats developed moderate uremia and maintained a nutritional status similar to that of a sham-operated control group (C rats). 2. After a 12-h fast, the NX group showed a 32% decrease in plasma glucose vs 20% for the C group. 3. After intravenous glucose administration (75 mg/100 mg body weight), plasma glucose and insulin levels were similar in both NX and C rat groups. 4. The decrease in plasma glucose after insulin administration (0.025 U/100 g body weight) was larger in the NX group than in controls. 5. No significant difference was found between the hepatic glycogen levels of NX and C animals although diaphragm muscle glycogen levels in the NX group were nearly twice that of controls. 6. Carcass fatty acid levels in the NX group were 42% lower than in the C group, while total liver lipids were similar for both. 7. These findings suggest that nephrectomized rats exhibit increased sensitivity to exogenous insulin, are not intolerant to intravenous glucose and after a 12-h fast show hypoglycemia that could be related to higher glucose utilization by muscle tissue.


Subject(s)
Blood Glucose/metabolism , Glycogen/metabolism , Insulin/metabolism , Kidney Failure, Chronic/metabolism , Animals , Fasting , Fatty Acids/metabolism , Lipid Metabolism , Male , Nephrectomy , Rats , Rats, Inbred Strains , Urea/blood
18.
Arq. bras. endocrinol. metab ; 28(3): 75-6, 1984.
Article in Portuguese | LILACS | ID: lil-23209

ABSTRACT

O hiperparatiroidismo materno, durante a gravidez, acarreta aumento da morbidade e mortalidade materno-fetais. Os autores relatam um caso de hiperparatiroidismo primario durante a gestacao em uma paciente que apresentava hipotiroidismo primario.Durante a gravidez, observou-se acentuacao da hipercalcemia e hipofosfatemia. A paciente foi operada no inicio do 3o. trimestre com retirada de um adenoma da paratiroide, nao tendo havido complicacoes para a mae ou para o feto. E feita revisao da literatura sobre hiperparatiroidismo na gravidez e sobre a associacao de hiperparatiroidismo primario com doencas da tiroide


Subject(s)
Pregnancy , Adult , Humans , Female , Hyperparathyroidism , Hypothyroidism , Pregnancy Complications
20.
Arq. bras. endocrinol. metab ; 27(2): 89-94, 1983.
Article in Portuguese | LILACS | ID: lil-14252

ABSTRACT

Os autores analisam prospectivamente caracteristicas clinicas e laboratoriais dos diferentes tipos de doencas da tiroide, observadas em 256 pacientes atendidos no Servico de Endocrinologia do Hospital de Clinicas de Porto Alegre, no periodo compreendido entre fevereiro de 1978 a marco de 1979. Constatam que as doencas de tiroide mais frequentemente encontradas foram o bocio atoxico e o hipertiroidismo, os quais ocorreram respectivamente em 50 e 26% dos pacientes. Com base nos resultados, afirmam que os bocios nodulares constituiram a causa mais frequente de hipertiroidismo, e que o carcinoma folicular foi a neoplasia mais prevalente, ressaltando que estes achados tem sido descritos em pacientes provenientes de areas deficientes de iodo. Sugerem que, em nosso meio, a deficiencia do iodo, alem de ter um papel preponderante na genese das doencas de tiroide, modifica significativamente as formas de apresentacao de algumas delas, em especial do hipertiroidismo e do carcinoma. Enfatizam, finalmente, a necessidade da realizacao de estudos futuros, de carater epidemiologico e mais abrangentes, atraves dos quais seja possivel determinar objetivamente o grau de deficiencia de iodo, a prevalencia de bocios e os diferentes tipos de doencas da tiroide, peculiares as diversas regioes do Estado do Rio Grande do Sul


Subject(s)
Humans , Male , Female , Thyroid Diseases , Goiter , Hypothyroidism , Thyroid Neoplasms
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