Browsing by Author "Palha, Ana"
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- 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.
- 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.