Browsing by Author "Rego, T"
Now showing 1 - 6 of 6
Results Per Page
Sort Options
- Absolute Hyperglycemia versus Stress Hyperglycemia Ratio for the Prognosis of Hospitalized Patients with COVID-19 in the First Months of the Pandemic: A Retrospective StudyPublication . Matias, AA; Manique, I; Sabino, T; Rego, T; Mihon, C; Panarra, A; Rizzo, M; Silva-Nunes, JDiabetes is a risk factor for greater severity of coronavirus disease 2019 (COVID-19). The stress hyperglycemia ratio (SHR) is an independent predictor of critical illness, and it is reported to have a stronger association than absolute hyperglycemia. The aim of this study was to assess the relationship of absolute hyperglycemia and SHR with the severity of COVID-19, since there are no studies investigating SHR in patients with COVID-19. We conducted a retrospective observational study on hospitalized patients with COVID-19 in the first months of the pandemic, regarding absolute hyperglycemia, SHR, and severity outcomes. Of the 374 patients, 28.1% had a previous diagnosis of type 2 diabetes. Absolute hyperglycemia (64.8% versus 22.7%; p < 0.01) and SHR [1.1 (IQR 0.9-1.3) versus 1.0 (IQR 0.9-1.2); p < 0.001] showed a statistically significant association with previous diabetes. Absolute hyperglycemia showed a significant association with clinical severity of COVID-19 (79.0% versus 62.7%; p < 0.001), need for oxygen therapy (74.8% versus 54.4%; p < 0.001), invasive mechanical ventilation (28.6% versus 11.6%; p < 0.001), and intensive care unit (30.3% versus 14.9%; p = 0.002), but not with mortality; by contrast, there was no statistically significant association between SHR and all these parameters. Our results are in agreement with the literature regarding the impact of absolute hyperglycemia on COVID-19 severity outcomes, while SHR was not a significant marker. We therefore suggest that SHR should not be evaluated in all patients admitted in the hospital for COVID-19, and we encourage the standard measures at admission of blood glucose and HbA1c levels.
- ARMC5 Mutation in a Portuguese Family with Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH)Publication . Rego, T; Fonseca, F; Espiard, S; Perlemoine, K; Bertherat, J; Agapito, ASUMMARY: PBMAH is a rare etiology of Cushing syndrome (CS). Familial clustering suggested a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene. A 70-year-old female patient was admitted due to left femoral neck fracture in May 2014, in Orthopedics Department. During hospitalization, hypertension (HTA) and hypokalemia were diagnosed. She presented with clinical signs of hypercortisolism and was transferred to the Endocrinology ward for suspected CS. Laboratory workup revealed: ACTH <5 pg/mL; urinary free cortisol (UFC), 532 µg/24 h (normal range: 20-90); failure to suppress the low-dose dexamethasone test (0.5 mg every 6 h for 48 h): cortisol 21 µg/dL. Abdominal magnetic resonance imaging (MRI) showed enlarged nodular adrenals (right, 55 × 54 × 30 mm; left, 85 × 53 × 35 mm), and she was submitted to bilateral adrenalectomy. In 2006, this patient's 39-year-old daughter had been treated by one of the authors. She presented with severe clinical and biological hypercortisolism. Computed tomography (CT) scan showed massively enlarged nodular adrenals with maximal axis of 15 cm for both. Bilateral adrenalectomy was performed. In this familial context of PBMAH, genetic study was performed. Leucocyte DNA genotyping identified in both patients the same germline heterozygous ARMC5 mutation in exon 1 c.172_173insA p.I58Nfs*45. The clinical cases herein described have an identical phenotype with severe hypercortisolism and huge adrenal glands, but different ages at the time of diagnosis. Current knowledge of inheritance of this disease, its insidious nature and the well-known deleterious effect of hypercortisolism favor genetic study to timely identify and treat these patients. LEARNING POINTS: PBMAH is a rare etiology of CS, characterized by functioning adrenal macronodules and variable cortisol secretion.The asymmetric/asynchronous involvement of only one adrenal gland can also occur, making disease diagnosis a challenge.Familial clustering suggests a genetic cause that was recently confirmed, after identification of inactivating germline mutations in armadillo repeat-containing 5 (ARMC5) gene.The insidious nature of this disease and the well-known deleterious effect of hypercortisolism favor genetic study of other family members, to diagnose and treat these patients timely.As ARMC5 is expressed in many organs and recent findings suggest an association of PBMAH and meningioma, a watchful follow-up is required.
- Congenital Hyperinsulinism in Two Siblings with ABCC8 Mutation: Same Genotype, Different PhenotypesPublication . Sousa-Santos, F; Simões, H; Castro-Feijóo, L; Rodríguez, P; Fernández-Marmiesse, A; Fiaño, R; Rego, T; Carracedo, A; Conde, JCongenital hyperinsulinism (CHI) is a heterogenous disease caused by insulin secretion regulatory defects, being ABCC8/KCNJ11 the most commonly affected genes. Therapeutic options include diazoxide, somatostatin analogues and surgery, which is curative in focal CHI. We report the case of two siblings (born two years apart) that presented themselves with hypoketotic hyperinsulinemic persistent hypoglycemias during neonatal period. The diagnosis of diffuse CHI due to an ABCC8 compound mutation (c.3576delG and c.742C>T) was concluded. They did not benefit from diazoxide therapy (or pancreatectomy performed in patient number 1) yet responded to somatostatin analogues. Patient number 1 developed various neurological deficits (including epilepsy), however patient number 2 experienced an entirely normal neurodevelopment. We believe this case shows how previous knowledge of the firstborn sibling's disease contributed to a better and timelier medical care in patient number 2, which could potentially explain her better neurological outcome despite their same genotype.
- Gitelman Syndrome and Primary Hyperparathyroidism: a Rare AssociationPublication . Rego, T; Fonseca, F; Cerqueira, R; Agapito, AGitelman syndrome(GS) is a rare autosomal recessive salt-losing tubulopathy of young adults, characterised by hypokalaemia, hypomagnesaemia, hypocalciuria and secondary hyperaldosteronism. Hypercalcaemia due to hypocalciuria in these patients is extremely rare.A 25-year-old healthy woman was referred to the Endocrinology clinic for evaluation of persistent hypokalaemia. She presented with fatigue, myalgias, cramps and paraesthesia. Her physical examination was normal. Laboratory workup revealed: K+ 2.7 mEq/L (r.v.3.5-5.1), 24 hours urinary K+ 84.7 mEq/24 hours (r.v.25-125), Mg2+ 0.71 mg/dL (r.v.1.6-2.6), 24 hours urinary Mg2+ 143.1 mg/24 hours (r.v.73-122), Ca2+ 12 mg/dL (r.v.8.4-10.2), aldosterone 47.1 ng/mL (r.v. 4-31) and active renin 374.7 uUI/mL (r.v.4.4-46.1). She was diagnosed with GS and was treated with spironolactone, oral K+ and Mg2+ supplementation. Further investigation confirmed hypercalcaemia due to primary hyperparathyroidism owing to a single parathyroid adenoma. Following parathyroidectomy serum calcium normalised.Current knowledge favours that hypomagnesaemia in patients with GS protects them from hypercalcaemia. In this context of multiple electrolyte imbalances, correction of hypomagnesaemia is a challenge and should be done carefully. Like in our patient, aetiology of hypercalcaemia should be promptly diagnosed and reversed.
- Preoperative Location of Parathyroid Adenomas in Primary Hyperparathyroidism: the Role of Cervical Doppler UltrasoundPublication . Amaral, S; Rego, T; Palha, A; Carrilho, N; Coutinho, JM; Tavares, P; Silva-Nunes, JIntroduction: 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 the 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 concomitant presence of thyroid nodules did not affect the accuracy of 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 first line test in primary hyperparathyroidism to assess the preoperative location of parathyroid adenomas.
- Severe Neurological Abnormalities in a Young Boy with Impaired Thyroid Hormone Sensitivity Due to a Novel Mutation in the MCT8 GenePublication . Rego, T; Gomez Lado, C; Cabanas Rodríguez, P; Sousa Santos, F; Barros Angueira, F; Castro-Feijóo, L; Barreiro Conde, J; Castro-Gago, MMonocarboxylate transporter 8 (MCT8) is an active and specific thyroid hormone transporter into neurons. MCT8 mutations cause an X-linked condition known as Allan-Herndon-Dudley syndrome and are characterized by impaired psychomotor development and typical abnormal thyroid function. We describe a 10-year-old boy with severe cognitive disability, axial hypotonia, spastic quadriplegia and sporadic dyskinetic episodes. He initially presented with thyroid dysfunction (high FT3, low rT3, low FT4 and normal TSH) and generalized retardation of the cerebral and cerebellar myelination in brain magnetic resonance imaging. The clinical and laboratory findings led to sequencing of the SLC16A2/MCT8 gene, which identified a novel missense mutation in exon 5. The study of peripheral markers of thyroid function suggests a paradoxical state of thyrotoxicosis in some peripheral tissues. Our patient had a typical clinical presentation at birth but because of the rarity of his disease his diagnosis was not made until the age of 7. The delay can also be explained by the omission of the free T3 assay in the first thyroid evaluation performed. This case therefore highlights the possible benefit of including the T3 assay in the study of patients with severe psychomotor disability of unknown etiology, thus eliminating extra costs for unnecessary complementary diagnostic tests.