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1.
Arch. endocrinol. metab. (Online) ; 66(1): 92-96, Jan.-Feb. 2022. graf
Article de Anglais | LILACS | ID: biblio-1364301

RÉSUMÉ

SUMMARY We report a rare case of Cushing's syndrome in a 37-year-old female who initially presented with localized acinic cell carcinoma of the parotid gland. In January 2014, she underwent a right parotidectomy with facial nerve preservation and adjuvant radiotherapy. In August 2018, she presented a histologically-proven local regional relapse. The patient was considered for salvage surgery with facial nerve sacrifice and remained with no evidence of disease. One year later the patient developed pulmonary dissemination and started to gain weight and developed facial plethora and acne on the face and upper trunk. In a physical examination, the patient presented moon face, buffalo hump, acne and stage 2 hypertension. Biochemical evaluation confirmed ACTH-dependent Cushing's syndrome. IHC for ACTH in the lung biopsy revealed strong positive staining for ACTH confirming a diagnosis of ectopic ACTH secretion by a metastatic parotid acinic cell carcinoma. Ketoconazole (600 mg/d) was started to treat the CS. In addition, as chemotherapy was initiated to treat the metastatic disease. After the fifth cycle of chemotherapy, ketoconazole was suspended and the patient remained in remission of CS for four months, when CS recurred. A unique feature of this case is related to the clinical CS relapse associated with disease progression, which needed prompt treatment with ketoconazole, resulting in a significant improvement in the patient's condition. Although rare, should be attentive for possible CS features in patients with high-grade salivary gland carcinomas, since the diagnosis of ectopic secretion of ACTH may significantly impact their management and outcomes.


Sujet(s)
Humains , Femelle , Adulte , Syndrome de sécrétion ectopique d'ACTH/complications , Syndrome de sécrétion ectopique d'ACTH/diagnostic , Tumeurs de la parotide/complications , Carcinomes/complications , Syndrome de Cushing/diagnostic , Syndrome de Cushing/étiologie , Hormone corticotrope , Récidive tumorale locale
2.
Barroso, Weimar Kunz Sebba; Rodrigues, Cibele Isaac Saad; Bortolotto, Luiz Aparecido; Mota-Gomes, Marco Antônio; Brandão, Andréa Araujo; Feitosa, Audes Diógenes de Magalhães; Machado, Carlos Alberto; Poli-de-Figueiredo, Carlos Eduardo; Amodeo, Celso; Mion Júnior, Décio; Barbosa, Eduardo Costa Duarte; Nobre, Fernando; Guimarães, Isabel Cristina Britto; Vilela-Martin, José Fernando; Yugar-Toledo, Juan Carlos; Magalhães, Maria Eliane Campos; Neves, Mário Fritsch Toros; Jardim, Paulo César Brandão Veiga; Miranda, Roberto Dischinger; Póvoa, Rui Manuel dos Santos; Fuchs, Sandra C; Alessi, Alexandre; Lucena, Alexandre Jorge Gomes de; Avezum, Alvaro; Sousa, Ana Luiza Lima; Pio-Abreu, Andrea; Sposito, Andrei Carvalho; Pierin, Angela Maria Geraldo; Paiva, Annelise Machado Gomes de; Spinelli, Antonio Carlos de Souza; Nogueira, Armando da Rocha; Dinamarco, Nelson; Eibel, Bruna; Forjaz, Cláudia Lúcia de Moraes; Zanini, Claudia Regina de Oliveira; Souza, Cristiane Bueno de; Souza, Dilma do Socorro Moraes de; Nilson, Eduardo Augusto Fernandes; Costa, Elisa Franco de Assis; Freitas, Elizabete Viana de; Duarte, Elizabeth da Rosa; Muxfeldt, Elizabeth Silaid; Lima Júnior, Emilton; Campana, Erika Maria Gonçalves; Cesarino, Evandro José; Marques, Fabiana; Argenta, Fábio; Consolim-Colombo, Fernanda Marciano; Baptista, Fernanda Spadotto; Almeida, Fernando Antonio de; Borelli, Flávio Antonio de Oliveira; Fuchs, Flávio Danni; Plavnik, Frida Liane; Salles, Gil Fernando; Feitosa, Gilson Soares; Silva, Giovanio Vieira da; Guerra, Grazia Maria; Moreno Júnior, Heitor; Finimundi, Helius Carlos; Back, Isabela de Carlos; Oliveira Filho, João Bosco de; Gemelli, João Roberto; Mill, José Geraldo; Ribeiro, José Marcio; Lotaif, Leda A. Daud; Costa, Lilian Soares da; Magalhães, Lucélia Batista Neves Cunha; Drager, Luciano Ferreira; Martin, Luis Cuadrado; Scala, Luiz César Nazário; Almeida, Madson Q; Gowdak, Marcia Maria Godoy; Klein, Marcia Regina Simas Torres; Malachias, Marcus Vinícius Bolívar; Kuschnir, Maria Cristina Caetano; Pinheiro, Maria Eliete; Borba, Mario Henrique Elesbão de; Moreira Filho, Osni; Passarelli Júnior, Oswaldo; Coelho, Otavio Rizzi; Vitorino, Priscila Valverde de Oliveira; Ribeiro Junior, Renault Mattos; Esporcatte, Roberto; Franco, Roberto; Pedrosa, Rodrigo; Mulinari, Rogerio Andrade; Paula, Rogério Baumgratz de; Okawa, Rogério Toshiro Passos; Rosa, Ronaldo Fernandes; Amaral, Sandra Lia do; Ferreira-Filho, Sebastião R; Kaiser, Sergio Emanuel; Jardim, Thiago de Souza Veiga; Guimarães, Vanildo; Koch, Vera H; Oigman, Wille; Nadruz, Wilson.
Arq. bras. cardiol ; Arq. bras. cardiol;116(3): 516-658, Mar. 2021. graf, tab
Article de Portugais | SES-SP, CONASS, LILACS, SESSP-IDPCPROD, SES-SP | ID: biblio-1248881
3.
Clinics ; Clinics;75: e2022, 2020. tab
Article de Anglais | LILACS | ID: biblio-1133398

RÉSUMÉ

The coronavirus disease 2019 (COVID-19) is an emerging pandemic challenge. Acute respiratory distress syndrome (ARDS) in COVID-19 is characterized by a severe cytokine storm. Patients undergoing glucocorticoid (GC) replacement therapy for adrenal insufficiency (AI) represent a highly vulnerable group that could develop severe complications due to the SARS-CoV-2 infection. In this review, we highlight the strategies to avoid an adrenal crisis in patients with AI and COVID-19. Adrenal crisis is a medical emergency and an important cause of death. Once patients with AI present symptoms of COVID-19, the dose of GC replacement therapy should be immediately doubled. In the presence of any emergency warning signs or inability to administer oral GC doses, we recommend that patients should immediately seek Emergency services to evaluate COVID-19 symptoms and receive 100 mg hydrocortisone by intravenous injection, followed by 50 mg hydrocortisone intravenously every 6 h or 200 mg/day by continuous intravenous infusion.


Sujet(s)
Humains , Hydrocortisone/administration et posologie , Insuffisance surrénale/complications , Insuffisance surrénale/traitement médicamenteux , Infections à coronavirus/prévention et contrôle , Betacoronavirus , Glucocorticoïdes/administration et posologie , Pneumopathie virale/prévention et contrôle , Indice de gravité de la maladie , Facteurs de risque , Pandémies/prévention et contrôle , SARS-CoV-2 , COVID-19 , Injections veineuses
4.
Int. braz. j. urol ; 45(3): 514-522, May-June 2019. tab
Article de Anglais | LILACS | ID: biblio-1012319

RÉSUMÉ

ABSTRACT Purpose: To investigate risk factors for complications in patients undergoing adrenalectomy. Materials and Methods: A retrospective search of our institutional database was performed of patients who underwent adrenalectomy, between 2014 and 2018. Clinical parameters and adrenal disorder characteristics were assessed and correlated to intra and post-operative course. Complications were analyzed within 30-days after surgery. A logistic regression was performed in order to identify independent predictors of morbidity in patients after adrenalectomy. Results: The files of 154 patients were reviewed. Median age and Body Mass Index (BMI) were 52-years and 27.8kg/m2, respectively. Mean tumor size was 4.9±4cm. Median surgery duration and estimated blood loss were 140min and 50mL, respectively. There were six conversions to open surgery. Minor and major post-operative complications occurred in 17.5% and 8.4% of the patients. Intra-operative complications occurred in 26.6% of the patients. Four patients died. Mean hospitalization duration was 4-days (Interquartile Range: 3-8). Patients age (p=0.004), comorbidities (p=0.003) and pathological diagnosis (p=0.003) were independent predictors of post-operative complications. Tumor size (p<0.001) and BMI (p=0.009) were independent predictors of intra-operative complications. Pathological diagnosis (p<0.001) and Charlson score (p=0.013) were independent predictors of death. Conclusion: Diligent care is needed with older patients, with multiple comorbidities and harboring unfavorable adrenal disorders (adrenocortical carcinoma and pheocromocytoma), who have greater risk of post-operative complications. Patients with elevated BMI and larger tumors have higher risk of intra, but not of post-operative complications.


Sujet(s)
Humains , Mâle , Femelle , Adulte , Sujet âgé , Complications postopératoires/étiologie , Maladies des surrénales/chirurgie , Surrénalectomie/effets indésirables , Complications peropératoires/étiologie , Facteurs temps , Modèles logistiques , Études rétrospectives , Facteurs de risque , Analyse de variance , Résultat thérapeutique , Tumeurs corticosurrénaliennes/chirurgie , Tumeurs corticosurrénaliennes/complications , Tumeurs corticosurrénaliennes/anatomopathologie , Maladies des surrénales/complications , Maladies des surrénales/anatomopathologie , Carcinome corticosurrénalien/complications , Carcinome corticosurrénalien/anatomopathologie , Carcinome corticosurrénalien/sang , Statistique non paramétrique , Charge tumorale , Adulte d'âge moyen
5.
Clinics ; Clinics;73(supl.1): e756s, 2018. tab
Article de Anglais | LILACS | ID: biblio-974949

RÉSUMÉ

Malignancy must be considered in the management of adrenal lesions, including those incidentally identified on imaging studies. Adrenocortical carcinomas (ACCs) are rare tumors with an estimated annual incidence of 0.7-2 cases per year and a worldwide prevalence of 4-12 cases per million/year. However, a much higher incidence of these tumors (>15 times) has been demonstrated in south and southeastern Brazil. Most ACCs cause hypersecretion of steroids including glucocorticoids and androgens. ACC patients have a very poor prognosis with a 5-year overall survival (OS) below 30% in most series. Pheochromocytoma or paraganglioma (PPGL) is a metabolically active tumor originating from the chromaffin cells of the adrenal medulla. The incidence of PPGL is 0.2 to 0.9 cases per 100,000 individuals per year. Pheochromocytomas are present in approximately 4-7% of patients with adrenal incidentalomas. Classically, PPGL manifests as paroxysmal attacks of the following 4 symptoms: headaches, diaphoresis, palpitations, and severe hypertensive episodes. The diagnosis of malignant PPGL relies on the presence of local invasion or metastasis. In this review, we present the clinical and biochemical characteristics and pathogenesis of malignant primary lesions that affect the cortex and medulla of human adrenal glands.


Sujet(s)
Humains , Paragangliome/thérapie , Phéochromocytome/thérapie , Tumeurs corticosurrénaliennes/thérapie , Tumeurs de la surrénale/thérapie , Carcinome corticosurrénalien/thérapie , Paragangliome/diagnostic , Paragangliome/anatomopathologie , Phéochromocytome/diagnostic , Phéochromocytome/anatomopathologie , Tumeurs corticosurrénaliennes/diagnostic , Tumeurs corticosurrénaliennes/anatomopathologie , Tumeurs de la surrénale/diagnostic , Tumeurs de la surrénale/anatomopathologie , Carcinome corticosurrénalien/diagnostic , Carcinome corticosurrénalien/anatomopathologie , Antinéoplasiques hormonaux/usage thérapeutique , Mitotane/usage thérapeutique
6.
Int. braz. j. urol ; 43(5): 841-848, Sept.-Oct. 2017. tab, graf
Article de Anglais | LILACS | ID: biblio-892887

RÉSUMÉ

ABSTRACT Purpose: To evaluate the role of ARDT after surgical resection of ACC. Materials and Methods: Records of patients from our institutional ACC database were retrospectively assessed. A paired comparison analysis was used to evaluate the oncological outcomes between patients treated with surgery followed by ARDT or surgery only (control). The endpoints were LRFS, RFS, and OS. A systematic review of the literature and meta-analysis was also performed to evaluate local recurrence of ACC when ARDT was used. Results: Ten patients were included in each Group. The median follow-up times were 32 months and 35 months for the ARDT and control Groups, respectively. The results for LRFS (p=0.11), RFS (p=0.92), and OS (p=0.47) were similar among subsets. The mean time to present with local recurrence was significantly longer in the ARDT group compared with the control Group (419±206 days vs. 181±86 days, respectively; p=0.03). ARDT was well tolerated by the patients; there were no reports of late toxicity. The meta-analysis, which included four retrospective series, revealed that ARDT had a protective effect on LRFS (HR=0.4; CI=0.17-0.94). Conclusions: ARDT may reduce the chance and prolong the time to ACC local recurrence. However, there were no benefits for disease recurrence control or overall survival for patients who underwent this complementary therapy.


Sujet(s)
Humains , Mâle , Femelle , Sujet âgé , Sujet âgé de 80 ans ou plus , Jeune adulte , Tumeurs corticosurrénaliennes , Carcinome corticosurrénalien/radiothérapie , Études cas-témoins , Études rétrospectives , Études de suivi , Tumeurs corticosurrénaliennes/chirurgie , Carcinome corticosurrénalien/chirurgie , Surrénalectomie , Radiothérapie adjuvante/méthodes , Survie sans rechute , Adulte d'âge moyen
7.
Arch. endocrinol. metab. (Online) ; 61(3): 305-312, May-June 2017. tab, graf
Article de Anglais | LILACS | ID: biblio-887562

RÉSUMÉ

ABSTRACT Primary aldosteronism (PA) is the most common form of secondary hypertension (HTN), with an estimated prevalence of 4% of hypertensive patients in primary care and around 10% of referred patients. Patients with PA have higher cardiovascular morbidity and mortality than age- and sex-matched patients with essential HTN and the same degree of blood pressure elevation. PA is characterized by an autonomous aldosterone production causing sodium retention, plasma renin supression, HTN, cardiovascular damage, and increased potassium excretion, leading to variable degrees of hypokalemia. Aldosterone-producing adenomas (APAs) account for around 40% and idiopathic hyperaldosteronism for around 60% of PA cases. The aldosterone-to-renin ratio is the most sensitive screening test for PA. There are several confirmatory tests and the current literature does not identify a "gold standard" confirmatory test for PA. In our institution, we recommend starting case confirmation with the furosemide test. After case confirmation, all patients with PA should undergo adrenal CT as the initial study in subtype testing to exclude adrenocortical carcinoma. Bilateral adrenal vein sampling (AVS) is the gold standard method to define the PA subtype, but it is not indicated in all cases. An experienced radiologist must perform AVS. Unilateral laparoscopic adrenalectomy is the preferential treatment for patients with APAs, and bilateral hyperplasia should be treated with mineralocorticoid antagonist (spironolactone or eplerenone). Cardiovascular morbidity caused by aldosterone excess can be decreased by either unilateral adrenalectomy or mineralocorticoid antagonist. In this review, we address the most relevant issues regarding PA screening, case confirmation, subtype classification, and treatment.


Sujet(s)
Humains , Hyperaldostéronisme/complications , Hyperaldostéronisme/diagnostic , Hyperaldostéronisme/thérapie , Hypertension artérielle/étiologie , Tomodensitométrie , Rénine/sang , Glandes surrénales/imagerie diagnostique , Surrénalectomie , Aldostérone/sang , Antagonistes des récepteurs des minéralocorticoïdes/usage thérapeutique , Hyperaldostéronisme/sang
8.
Int. braz. j. urol ; 42(4): 671-677, July-Aug. 2016. tab
Article de Anglais | LILACS | ID: lil-794685

RÉSUMÉ

ABSTRACT Purpose: To evaluate the presentation and early surgical outcomes of elderly patients undergoing adrenalectomy for phaeochromocytoma. Patients and Methods: A retrospective search was performed of our adrenal disorders database for patients who underwent surgery for phaeochromocytoma or paraganglioma between 2009 and 2014. Patients >60 years old were classified as elderly. The clinical manifestations, intraoperative course, and early postoperative outcomes of elderly patients were compared to those of younger individuals (<60 years old). Results: The mean (±standard deviation) age in the older (n=10) and younger (n=36) groups was 69.6±5.3 years and 34.0±12.9 years. Germ-line mutations were more common in younger patients (50.0% versus 0%; p=0.004), whereas incidental lesions were more common in the elderly (40.0% versus 5.3%; p=0.003). In both groups, surgery was most commonly performed by videolaparoscopy (90% in the elderly and 82% in the younger group), with similar intraoperative anesthetic and surgical outcomes. Postoperatively, the older group more commonly received vasoactive drugs (60.0% versus 10.5%; p<0.001) and had a longer intensive care unit stay (3.1±2.8 versus 1.4±1.0 days; p=0.014), more clinical complications (60% versus 18.9%; p=0.01), and longer hospital stay (10.2±8.4 versus 5.7±4.9 days; p=0.028). Conclusions: Although all patients received the same preoperative preparation, the elderly group exhibited a slower and more complicated recovery after adrenalectomy. Meticulous perioperative care should be used in the elderly when treating phaeochromocytoma; nevertheless, adrenalectomy is a relatively safe procedure in this patient population.


Sujet(s)
Humains , Mâle , Femelle , Adulte , Sujet âgé , Jeune adulte , Phéochromocytome/chirurgie , Tumeurs de la surrénale/chirurgie , Surrénalectomie/normes , Complications postopératoires/classification , Loi du khi-deux , Études de faisabilité , Études rétrospectives , Facteurs âges , Adulte d'âge moyen
9.
Clinics ; Clinics;66(11): 1849-1854, 2011. ilus, tab
Article de Anglais | LILACS | ID: lil-605862

RÉSUMÉ

INTRODUCTION: Activating mutations in exon 3 of the β-catenin gene are involved in the pathogenesis of adamantinomatous craniopharyngiomas. Recently, the interaction between β-catenin and PROP1 has been shown to be responsible for pituitary cell lineage determination. We hypothesized that dysregulated PROP1 expression could also be involved in the pathogenesis of craniopharyngiomas OBJECTIVES: To determine whether dysregulated gene expression was responsible for tumor pathogenesis in adamantinomatous craniopharyngiomas, the β-catenin gene was screened for mutations, and the expression of the β-catenin gene and PROP1 was evaluated. β-catenin gene was amplified and sequenced from 14 samples of adamantinomatous craniopharyngiomas. PROP1 and β-catenin gene expression was assessed by real-time RT-PCR from 12 samples, and β-catenin immunohistochemistry was performed on 11 samples. RESULTS: Mutations in the β-catenin gene were identified in 64 percent of the adamantinomatous craniopharyngiomas samples. Evidence of β-catenin gene overexpression was found in 71 percent of the tumors with β-catenin mutations and in 40 percent of the tumors without mutations, and β-catenin immunohistochemistry revealed a nuclear staining pattern for each of the analyzed samples. PROP1 expression was undetectable in all of the tumor samples. CONCLUSION: We found evidence of β-catenin gene overexpression in the majority of adamantinomatous craniopharyngiomas, and we also detected a nuclear β-catenin staining pattern regardless of the presence of a bcatenin gene mutation. These results suggest that WNT signaling activation plays an important role in the pathogenesis of adamantinomatous craniopharyngiomas. Additionally, this study was the first to evaluate PROP1 expression in adamantinomatous craniopharyngiomas, and the absence of PROP1 expression indicates that this gene is not involved in the pathogenesis of this tumor, at least in this cohort.


Sujet(s)
Adolescent , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Mâle , Jeune adulte , Craniopharyngiome/génétique , Protéines à homéodomaine/génétique , Tumeurs de l'hypophyse/génétique , bêta-Caténine/génétique , Craniopharyngiome/anatomopathologie , Analyse de mutations d'ADN , Expression des gènes , Tumeurs de l'hypophyse/anatomopathologie , Transduction du signal/génétique , Activation de la transcription/génétique , Protéines de type Wingless/génétique
10.
Arq. bras. endocrinol. metab ; Arq. bras. endocrinol. metab;54(3): 251-252, Apr.-Mar. 2010.
Article de Anglais | LILACS | ID: lil-547551
11.
Clinics ; Clinics;65(4): 407-415, 2010. ilus
Article de Anglais | LILACS | ID: lil-546316

RÉSUMÉ

OBJECTIVE: Non-pituitary tumors have been reported in a subset of patients harboring germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. However, no detailed investigations of non-pituitary tumors of AIP-mutated patients have been reported so far. PATIENTS: We examined a MEN1- and p53-negative mother-daughter pair with acromegaly due to somatotropinoma. Subsequently, the mother developed a large virilizing adrenocortical carcinoma and a grade II B-cell non-Hodgkin's lymphoma. DESIGN: Mutational analysis was performed by automated sequencing. Loss-of-heterozygosity (LOH) analysis was carried out by sequencing and microsatellite analysis. AIP expression was assessed through quantitative PCR (qPCR) and immunohistochemistry. RESULTS: The functional inactivating mutation c.241C>T (R81X), which blocks the AIP protein from interacting with phosphodiesterase 4A (PDE4A), was identified in the heterozygous state in the leukocyte DNA of both patients. Analyzing the tumoral DNA revealed that the AIP wild-type allele was lost in the daughter's somatotropinoma and the mother's adrenocortical carcinoma. Both tumors displayed low AIP protein expression levels. Low AIP gene expression was confirmed by qPCR in the adrenocortical carcinoma. No evidence of LOH was observed in the DNA sample from the mother's B-cell lymphoma, and this tumor displayed normal AIP immunostaining. CONCLUSIONS: Our study presents the first molecular analysis of non-pituitary tumors in AIP-mutated patients. The finding of AIP inactivation in the adrenocortical tumor suggests that further investigation of the potential role of this recently identified tumor suppressor gene in non-pituitary tumors, mainly in those tumors in which the cAMP and the 11q13 locus are implicated, is likely to be worthwhile.


Sujet(s)
Adolescent , Adulte , Femelle , Humains , Acromégalie/génétique , Adénomes/génétique , Carcinome corticosurrénalien/génétique , Adénome hypophysaire à GH/génétique , Protéines et peptides de signalisation intracellulaire/génétique , Tumeurs de l'hypophyse/génétique , Adénomes , Expression des gènes , Mutation germinale , Perte d'hétérozygotie/génétique , Néoplasie endocrinienne multiple de type 1/génétique , Réaction de polymérisation en chaîne , Tumeurs de l'hypophyse
12.
Arq. bras. endocrinol. metab ; Arq. bras. endocrinol. metab;52(8): 1257-1263, Nov. 2008. ilus, tab
Article de Anglais | LILACS | ID: lil-503291

RÉSUMÉ

OBJECTIVE: Primary pigmented nodular adrenocortical disease (PPNAD) is the main endocrine manifestation of Carney complex, a multiple neoplasia syndrome caused by PRKAR1A gene mutations. The presence of PRKAR1A loss of heterozygosity (LOH) in adrenocortical tumorigenesis remains controversial. The aim of the present study is to investigate the presence of PRKAR1A LOH in adrenocortical cells in a patient with Carney complex. METHODS: The LOH was investigated using a PRKAR1A informative intragenic marker by GeneScan software analysis in DNA obtained from laser-captured microdissected cells of several adrenal nodules. Patients: A young adult male patient with Carney complex and his family were studied. RESULTS: A novel heterozygous mutation (p. Y21X) was identified at PRKAR1A in blood DNA of the male proband and his relatives. No PRKAR1A LOH was evidenced in the laser-captured microdissected cells from PPNAD tissue by different methodologies. CONCLUSION: We identified a new PRKAR1A nonsense mutation and in addition we did not evidence PRKAR1A LOH in laser-captured nodules cells, suggesting that adrenocortical tumorigenesis in PPNAD may occurs apart from the second hit.


OBJETIVO: A doença adrenocortical nodular pigmentosa primária (PPNAD) é uma das manifestações do complexo de Carney, uma neoplasia endócrina múltipla causada por mutações no PRKAR1A. A perda de heterozigose (LOH) do PRKAR1A na tumorigenese adrenal permanece controversa dada à possibilidade de contaminação com o tecido normal. Nosso objetivo foi investigar a presença de LOH no PRKAR1A a partir de células do nódulo adrenal de um paciente com complexo de Carney. MÉTODOS: A pesquisa da LOH do PRKAR1A foi realizada através do estudo de um marcador intragênico em DNA de células do nódulo adrenal microdissecadas a laser, evitando contaminação com o tecido normal. Pacientes: Um paciente com PPNAD e cinco familiares foram estudados. RESULTADOS: A nova mutação (p. Y21X) foi identificada no PRKAR1A sem evidência de LOH no tecido adrenal. CONCLUSÃO: Identificamos uma nova mutação no PRKAR1A e não evidenciamos LOH nas células dos nódulos adrenocorticais, sugerindo que a PPNAD possa ocorrer na ausência de um segundo evento molecular.


Sujet(s)
Adolescent , Femelle , Humains , Mâle , Adulte d'âge moyen , Cortex surrénal/anatomopathologie , Codon non-sens/génétique , Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/génétique , Perte d'hétérozygotie , Néoplasie endocrinienne multiple/génétique , Cortex surrénal/cytologie , Codon non-sens/sang , Lasers , Pedigree
13.
Arq. bras. endocrinol. metab ; Arq. bras. endocrinol. metab;51(6): 913-919, ago. 2007. tab
Article de Portugais | LILACS | ID: lil-464282

RÉSUMÉ

A Síndrome de Prader-Willi (SPW) é uma doença complexa, multissistêmica, caracterizada por hipotonia, retardo mental, características dismórficas, hiperfagia e compulsão alimentar devido à disfunção hipotalâmica. SPW ocorre pela perda de função de genes localizados no cromossomo 15q11-13, região que sofre imprinting genômico. Obesidade é a principal causa de morbidade e mortalidade entre pacientes com SPW. O objetivo desta revisão é analisar as opções terapêuticas disponíveis para o tratamento da obesidade na SPW, incluindo a terapia farmacológica e o tratamento cirúrgico.


Prader-Willi Syndrome (PWS) is a multisystemic genetic disease characterized by hypotonia, mental retardation, characteristic facial appearance, hyperphagia, and compulsive eating due to hypothalamic dysfunction. PWS is caused by loss of function of genes located in chromosome 15q11-q13, an area subject to genomic imprinting. Obesity is a major cause of increased morbidity and mortality among patients with PWS. The objective of this study was to analyze the therapeutic options available for the treatment of the obesity in PWS including pharmacological and surgical strategies.


Sujet(s)
Adolescent , Enfant , Enfant d'âge préscolaire , Femelle , Humains , Nourrisson , Nouveau-né , Mâle , Obésité/thérapie , Syndrome de Prader-Willi/complications , Agents antiobésité/usage thérapeutique , Chirurgie bariatrique , Fluoxétine/usage thérapeutique , Fructose/analogues et dérivés , Fructose/usage thérapeutique , Mazindol/usage thérapeutique , Obésité/étiologie , Obésité/génétique , Inbiteurs sélectifs de la recapture de la sérotonine/usage thérapeutique
14.
Arq. bras. endocrinol. metab ; Arq. bras. endocrinol. metab;48(4): 544-554, ago. 2004. ilus, tab
Article de Portugais | LILACS | ID: lil-393703

RÉSUMÉ

Complexo de Carney (CNC) pode ser definido como uma forma de neoplasia endócrina múltipla familial associada a alteração de pigmentação cutânea e de mucosa, doença nodular pigmentosa primária das adrenais, mixomas cardíacos e cutâneos, adenomas hipofisários produtores de GH e PRL, neoplasia testicular, adenoma ou carcinoma de tireóide, além de cistos ovarianos. CNC tem herança autossômica dominante e possui manifestações clínicas que são, em alguns aspectos, similares às da síndrome de McCune-Albright. Recentemente, genes envolvidos na via de sinalização dependente de AMPc foram implicados na etiologia do CNC. Vamos apresentar, inicialmente, um caso de um paciente masculino de 17 anos com doença adrenal nodular pigmentosa, lentiginose facial e osteoporose severa. A seguir, procuramos analisar os aspectos clínicos e a genética molecular do CNC, assim como descrever os critérios diagnósticos e recomendações para o seguimento.


Sujet(s)
Adolescent , Humains , Mâle , Maladies des surrénales/diagnostic , Syndrome de Cushing/diagnostic , Lentigo/diagnostic , Néoplasie endocrinienne multiple/diagnostic , Syndrome
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