Percorrer por autor "Amaral, Sara"
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- Adrenal vein sampling in the management of primary aldosteronism: the added value of intraprocedural cortisol assessmentPublication . Manique, Inês; Amaral, Sara; Matias, Alexandra; Bouça, Bruno; Serranito, Salomé; Torres, João; Gutu, Olga; Bilhim, Tiago; Coimbra, Élia; Rodrigues, Isaura; Godinho, Conceição; Cortez, Luísa; Silva-Nunes, JoséIntroduction: Primary aldosteronism is the most common cause of secondary hypertension. Adrenal vein sampling is the gold standard for subtyping primary aldosteronism. However, this procedure is technically challenging and often has a low success rate. Our center is one of the very few performing this technique in our country with an increasing experience. Objective: This study aimed to evaluate the role of the cortisol intraprocedural assay in improving the performance of adrenal vein sampling. Design: We enrolled all of the patients with primary aldosteronism who underwent adrenal vein sampling from February 2016 to April 2023. The cortisol intraprocedural assay was introduced in October 2021. Methods: We enrolled a total of 50 adrenal vein samplings performed on 43 patients with the diagnosis of primary aldosteronism. In this sample, 19 patients and 24 patients underwent adrenal vein sampling before and after intraprocedural cortisol measurement, respectively. The procedure was repeated in seven patients (one before and six after intraprocedural cortisol measurement), given the unsuccess of the first exam. Selectivity of the adrenal vein sampling was assumed if the serum cortisol concentration from the adrenal vein was at least five times higher than that of the inferior vena cava. Lateralization was assumed if the aldosterone to cortisol ratio of one adrenal vein was at least four times the aldosterone to cortisol ratio of the contralateral side. Results: The mean age of the patients that underwent adrenal vein sampling (N = 43) was 55.2 ± 8.9 years, and 53.5% (n = 23) were female. The mean interval between the diagnosis of hypertension and the diagnosis of primary aldosteronism was 9.8 years (±9.9). At diagnosis, 62.8% of the patients (n = 27) had hypokalemia (mean value of 3 mmol/L (±0.34)), 88.4% (n = 38) had adrenal abnormalities on preprocedural CT scan, and 67.4% (n = 29) described as unilateral nodules. There were no statistically significant differences in the patient's baseline characteristics between the two groups (before and after intraprocedural cortisol measurement). Before intraprocedural cortisol measurement, adrenal vein sampling selectivity was achieved in 35% (n = 7) patients. Selectivity increased to 100% (30/30) after intraprocedural cortisol measurement (p < 0.001). Except for one patient who refused it, all patients with lateralized disease underwent unilateral adrenalectomy with normalization of the aldosterone to renin ratio postoperatively. Conclusions: The lack of effective alternatives in subtyping primary aldosteronism highlights the need to improve the success rate of adrenal vein sampling. In this study, intraprocedural cortisol measurement allowed a selectivity of 100%. Its addition to this procedure protocol should be considered, especially in centers with a low success rate.
- Artifactual hypoglycemia: a condition that should not be forgotten [case report]Publication . Amaral, Sara; Palha, Ana; Bernardino, Vera; Silva-Nunes, JoséBackground: Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia describes the discrepancy between low capillary and normal plasma glucose levels regardless of symptoms and should be considered in patients with Raynaud's phenomenon. Case presentation: A 46-year-old female patient with a history of a sleeve gastrectomy started complaining about episodes of lipothymias preceded by sweating, nausea, and dizziness. During one of these episodes, capillary blood glucose was obtained with a 24 mg/dl value. She had multiple emergency admissions with low-capillary glycemia. An exhaustive investigation for possible causes of hypoglycemia was made for 18 months. The 72h fasting test was negative for hypoglycemia. A Raynaud phenomenon was identified during one appointment. Conclusion: Artifactual hypoglycemia has been described in various conditions including Raynaud's phenomenon, peripheral arterial disease, Eisenmenger syndrome, acrocyanosis, or hypothermia. With this case report, we want to reinforce the importance of being aware of this diagnosis to prevent anxiety, unnecessary treatment, and diagnostic tests.
- Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotypePublication . Bouça, Bruno; Cascão, Mariana; Fiúza, Pedro; Amaral, Sara; Bogalho, Paula; Silva-Nunes, JoséSummary: 17-Alpha-hydroxylase deficiency (17OHD) is a rare autosomal recessive disease, representing 1% of cases of congenital adrenal hyperplasia. A 44-year-old female presented to the emergency department complaining of generalized asthenia and polyarthralgia for about 2 weeks. On examination, she was hypertensive (174/100 mmHg), and laboratory results revealed hypokalemia and hypocortisolism. She had an uncharacteristic morphotype, BMI of 16.7 kg/m2, cutaneous hyperpigmentation, and Tanner stage M1P1, with normal female external genitalia. She reported having primary amenorrhea. Further analytical evaluations of her hormone levels were performed CT scan revealed adrenal bilateral hyperplasia and the absence of female internal genitalia. A nodular lesion was observed in the left inguinal canal with 25 × 10 mm, compatible with a testicular remnant. Genetic analysis identified the c.3G>A p.(Met1?) variant in homozygosity in the CYP17A1 gene, classified as pathogenic, confirming the diagnosis of 17OHD. Karyotype analysis was compatible with 46,XY. The association of severe hypokalemia, hypertension, hypocortisolism, oligo/amenorrhea, and the absence of secondary sexual characteristics favored the diagnosis of 17OHD, confirmed by genetic testing. As in other published clinical cases, diagnosis outside pediatric age is not rare and should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics. Learning points: The association of severe hypokalemia, hypertension, hypocortisolism, oligo/amenorrhea and the absence of secondary sexual characteristics favor the diagnosis of 17-alpha-hydroxylase deficiency (17OHD). Diagnosis outside pediatric age is not rare. 17OHD should be considered when severe hypokalemia occurs in hypertensive adults with a lack of secondary sexual characteristics.
- Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes centerPublication . Amaral, Sara; Palha, Ana; Bogalho, Paula; Silva-Nunes, JoséBackground: Maturity-Onset Diabetes of the Young (MODY) is an autosomal dominant condition and represents 1-5% of all cases of diabetes mellitus. MODY is often misdiagnosed as type 1 or type 2 diabetes. The rare subtype 5 (HNF1B-MODY) is due to hepatocyte nuclear factor 1β (HNF1B) molecular alteration and is remarkable for its multisystemic phenotypes characterized by a broad spectrum of pancreatic and extra-pancreatic clinical manifestations. Methods: Retrospective study of patients with HNF1B-MODY diagnosis followed in the Centro Hospitalar Universitário Lisboa Central (Lisbon, Portugal). Demographic data, medical history, clinical and laboratory data, follow-up, and treatment procedures were obtained from electronic medical records. Results: We found 10 patients with HNF1B variants (7 index cases). The median age at diabetes diagnosis was 28 (IQR 24) years and the median age at HNF1B-MODY diagnosis was 40.5 (IQR 23) years. Six patients were initially misclassified as type 1 and 4 as type 2 diabetes. The average time between diabetes diagnosis and the diagnosis of HNF1B-MODY was 16.5 years. Diabetes was the first manifestation in half of the cases. The other half presented with kidney malformations and chronic kidney disease at pediatric age as the first manifestation. All these patients were submitted for kidney transplantation. Long-term diabetes complications included retinopathy (4/10), peripheral neuropathy (2/10), and ischemic cardiomyopathy (1/10). Other extra-pancreatic manifestations included liver test alterations (4/10) and congenital malformation of the female reproductive tract (1/6). History of a first-degree relative with diabetes and/or nephropathy diagnosed at a young age was present in 5 of the 7 index cases. Conclusions: Despite being a rare disease, HNF1B-MODY is underdiagnosed and often misclassified. It should be suspected in patients with diabetes and CKD, especially when diabetes appears at a young age, family history is present, and nephropathy appears before/shortly after the diagnosis of diabetes. The presence of unexplained liver disease increases the degree of suspicion for HNF1B-MODY. Early diagnosis is important to minimize complications and to allow familial screening and pre-conception genetic counseling. Trial registration is not applicable due to the retrospective nature of the study, non-interventional.
- Pituitary metastasis as the first manifestation of lung carcinomaPublication . Amaral, Sara; Matias, Alexandra; Bouça, Bruno; Manique, Inês; Palha, Ana; Cortez, Luísa; Cerqueira, Luís; Forte, Dalila; Sagarribay, Amets; Dutra, Eduardo; Cristóvão, Miguel; Pontinha, Carlos; Mafra, Manuela; Silva‐Nunes, JoséPituitary metastases are rare. Clinical presentation could range from asymptomatic to panhypopituitarism or local symptoms. We present a case report of a 43-year-old male patient with a new onset headache, visual disturbances, and panhypopituitarism. The investigation led to the diagnosis of pituitary metastasis as the first manifestation of underlying lung cancer.
- Preoperative location of parathyroid adenomas in primary hyperparathyroidism: the role of cervical doppler ultrasoundPublication . Amaral, Sara; Rego, Teresa; Palha, Ana; Carrilho, Nuno; Coutinho, José Mário; Tavares, Paula; Silva-Nunes, JoséABSTRACT - Introduction: Parathyroid adenoma is the most frequent cause of primary hyperparathyroidism. In recent years, the preoperative location of parathyroid adenomas allowed minimally invasive surgical techniques that have become preferred over traditional bilateral neck exploration. The more recent guidelines on this subject highlight the role of nuclear medicine imaging tests. The aim of this study was to review the current role of Doppler ultrasound (US) in assessing the preoperative location of parathyroid adenomas in patients with primary hyperparathyroidism. Material and methods: Retrospective study based on data from patients with primary hyperparathyroidism that underwent parathyroidectomy between January 2013 and January 2022 at the Centro Hospitalar Universitário Lisboa Central. Statistical analysis was performed with IBM SPSS Statistics, version 26.0.0.0®. Results: Parathyroidectomy was performed in 171 patients (77.8% females) with primary hyperparathyroidism. Cervical Doppler ultrasound was the most performed test (64.3%, n = 110) for preoperative location and detected a suspicious lesion in 98 patients (89.1%). The preoperative location of the parathyroid adenomas was assessed through the Doppler ultrasound and was compared with the surgical reports and histological findings; a correct identification was made in 76 patients (77.6%). Doppler ultrasound slightly underestimated the mean adenoma size (18.1 ± 7.7 mm preoperative versus 22 ± 8.4 mm postoperative). Calcium, parathyroid hormone levels, adenoma size, and the concomitant presence of thyroid nodules did not affect the accuracy of the Doppler ultrasound. Conclusion: Doppler ultrasound showed high diagnostic accuracy even in patients with nodular thyroid disease regardless of calcium and parathyroid hormone levels and adenoma size. Furthermore, its safety, affordability, and availability should favor its use as a first-line test in primary hyperparathyroidism to assess the preoperative location of parathyroid adenomas.
- SIDER: um novo sistema de inspeção e diagnóstico de edifícios recentesPublication . Amaral, Sara; Henriques, Dulce FrancoO aumento significativo de anomalias em edifícios recentes nas últimas décadas em Portugal, conduz cada vez mais à necessidade da utilização de ferramentas que auxiliem na sistematização do processo de inspeção e de diagnóstico, específicas para estas construções. Foi com essa finalidade que se desenvolveu um sistema estratégico de inspeção e diagnóstico em edifícios recentes (SIDER), alicerçado por meios de registo, de identificação e de classificação de ocorrências anómalas num edifício contemporâneo em Lisboa, o qual apresenta profundas anomalias construtivas e funcionais. Numa primeira análise, foi efetuada a identificação e a classificação de 581 anomalias, as quais foram submetidas a avaliação por diversos meios de diagnóstico (in situ e laboratoriais) e associadas a 156 causas (erros de projeto, de execução, de utilização, acidentes de origem humana, mecânica ou natural, e ações de agentes biológicos). Relativamente à avaliação da relação Anomalias-Causas, recorreu-se à aplicação das Matrizes de Correlação, compostas por cinco níveis percentuais de compatibilidade. A informação complementar ao diagnóstico das anomalias avaliadas é apresentada sob a forma de 80 fichas individuais e de documentos esquemáticos que evidenciam o mapeamento das mesmas. Assim, apresenta-se neste artigo um modelo de inspeção e diagnóstico que se adapta a edificações reais, permitindo a disponibilização de informações e de resultados objetivos, práticos e facilmente inteligíveis.