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2.
Cureus ; 15(11): e49563, 2023 Nov.
Article in English | MEDLINE | ID: mdl-38156179

ABSTRACT

INTRODUCTION: Subcentimetric papillary thyroid carcinoma (SPTC) (papillary thyroid carcinoma with less than 10 mm in size) usually presents an excellent prognosis, with few aggressive reported cases. Given the globally increased incidence of SPTC, physicians are struggling with the need to identify prognostic factors to stratify SPTC. The aim was to compare clinicopathological variables and prognosis between clinically and incidentally diagnosed SPTC. Materials and methodsː This is a retrospective observational study on patients with SPTC who underwent thyroidectomy between 2002 and 2015. Two groups were considered: G1 (n=60 (61.9%)), clinical diagnosis (Bethesda III-VI cytology in the thyroid tumor/in cervical lymphadenopathies) and G2 (n=37 (38.1%)), incidental diagnosis (thyroidectomy for benign thyroid pathology). The histological material was reviewed, and molecular analysis of the BRAF, RAS, and TERT promoter (TERTp) genes was performed. Resultsː Ninety-seven individuals were included, 60 (61.9%) of which were from G1, with a predominance of female sex (n=83 (85.6%)). Individuals of G1 were younger (53.0±14.2 versus 59.3±13.9 years; p=0.035), were more frequently treated with 131-iodine (39.2% versus 13.4%; p=0.007), had the largest diameter (8 (p25-p75: 7-9) versus 5 (p25-p75: 4-6.5) mm; p<0.001), and higher frequency of minimal extracapsular invasion (45% versus 24.3%; p=0.041). Increased tumor size was the only independent predictor of a clinical diagnosis (p<0.001). Conclusionsː Clinically and incidentally diagnosed SPTC showed excellent medium- to long-term prognosis. A larger SPTC was more likely a driver of clinical detection than a marker of tumor aggressiveness, but caution should be taken as contradictory data persists.

3.
J Pediatr Endocrinol Metab ; 36(3): 319-322, 2023 Mar 28.
Article in English | MEDLINE | ID: mdl-36351197

ABSTRACT

OBJECTIVES: We intend to describe a case of McCune-Albright Syndrome (MAS), a rare disease characterized by fibrous dysplasia (FD), cutaneous hyperpigmentation and hyperfunctioning endocrinopathies (HFE). CASE PRESENTATION: We report the case of a 13-year-old male child who presented with a café-au-lait macule in the lumbosacral region and disabling polyostotic FD, requiring several surgical interventions and bisphosphonates from the age of 3 years (Y) + 9 months (M) due to persistent and severe pain. Hyperthyroidism (HT) became apparent at 5 Y + 1 M with a T3/T4 ratio greater than 20. Treatment with anti-thyroid drugs (ATD) was carried out for 7 Y and there was a progressive improvement in pain complaints 8 M after starting ATD, allowing treatment with pamidronate to be discontinued. Total thyroidectomy was performed at 12 Y + 5 M. CONCLUSIONS: This is a case of MAS-associated HT that reflects the deleterious effect of thyroid hormone excess on FD, reinforcing the need of having a low threshold for suspicion of HFE that may arise.


Subject(s)
Endocrine System Diseases , Fibrous Dysplasia, Polyostotic , Hyperthyroidism , Male , Child , Humans , Child, Preschool , Adolescent , Fibrous Dysplasia, Polyostotic/complications , Fibrous Dysplasia, Polyostotic/therapy , Hyperthyroidism/etiology , Endocrine System Diseases/complications , Hormones , Diphosphonates
4.
Cureus ; 15(12): e51114, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38274904

ABSTRACT

Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is a primary mitochondrial disorder characterized by myoclonus, epilepsy, ataxia, and muscle fiber abnormalities. While traditionally associated with neurological features, MERRF's multisystem nature extends to endocrine dysfunction, including diabetes mellitus, thyroid disorders, and adrenal abnormalities. This case report explores the multifaceted nature of MERRF syndrome by presenting the clinical journey of a 70-year-old woman who sought care at the endocrinology clinic due to coexisting Addison's disease and diabetes mellitus, marked by recurrent hypoglycemia and suboptimal metabolic control. Over time, she developed a history of myoclonic epilepsy, effectively managed with lamotrigine, along with mild sensory axonal polyneuropathy and ataxia. The patient was diagnosed with MERRF syndrome following her son's diagnosis, which had a severe form. This case underscores the intricate interplay between mitochondrial dysfunction and endocrine manifestations in MERRF syndrome, highlighting the importance of a comprehensive and multidisciplinary approach to patient care. MERRF syndrome's array of endocrine manifestations substantially impacts patients' quality of life and morbidity. A comprehensive approach, uniting endocrinologists, neurologists, geneticists, and other specialists, is essential for effective patient care. Further research is warranted to unravel the complex mitochondrial-endocrine interactions in MERRF syndrome, offering potential insights for improved management.

5.
Cureus ; 14(9): e29710, 2022 Sep.
Article in English | MEDLINE | ID: mdl-36320960

ABSTRACT

Fine-needle aspiration cytology (FNAC) is a safe and well-tolerated procedure with high sensitivity and specificity. Serious complications, such as large hematomas, are very rare and should be promptly identified. We present an unusual case of a 71-year-old woman with a massive cervical hematoma that developed near the thyroid capsule after the FNAC of a nodule. CT showed a hematoma measuring 38 x 34 mm, causing deviation of the laryngotracheal axis. The patient was admitted to the intensive care unit for intubation and surgical drainage. This case illustrates that FNAC, despite being considered a safe procedure with infrequent complications, carries the risk of acute life-threatening events that should be taken into account.

6.
Cureus ; 14(9): e29401, 2022 Sep.
Article in English | MEDLINE | ID: mdl-36304359

ABSTRACT

Osteoporosis at a young age should prompt clinicians to search for secondary causes, namely endogenous Cushing's syndrome.We report a case of a 33-year-old male with a history of spontaneous fracture of the 12th thoracic vertebra and florid features of Cushing's syndrome. The physical exam evidenced moon face, facial plethora, muscle atrophy of the upper and lower limbs, and accumulation of abdominal fat. Bone mineral density revealed osteoporosis in the lumbar spine and in the femoral neck. Scintigraphy showed bone fractures in several costal arches, dorsal columns, and sternum. Hypercortisolism was confirmed by blood work. Serum cortisol, adrenocorticotropic hormone and corticotropin (ACTH), and 24-hour urine cortisol values were elevated. Imaging with MRI sellar region was normal and bilateral catheterization of inferior petrosal sinuses was positive. The patient underwent transsphenoidal pituitary surgery (TPS) and a lesion in the right side of the pituitary was identified and resected. Postoperatively, the patient did not meet the remission criteria and we decided to initiate treatment with ketoconazole alongside pituitary radiotherapy. After two years of surgery, the patient presented with recurrent bone fractures, height loss (25 cm), intense fatigue, and difficulty walking without assistance. Due to severe disease, we performed bilateral adrenalectomy, which was essential to control hypercortisolism and improve the patient's quality of life.

7.
Endocrinol Diabetes Nutr (Engl Ed) ; 69(7): 476-482, 2022.
Article in English | MEDLINE | ID: mdl-36084987

ABSTRACT

INTRODUCTION: In a person with type 1 diabetes, any change concerning daily routine may lead to changes in glycaemic control. This study aimed to evaluate the impact of work and lockdown on glycaemic control in adults with type 1 diabetes. MATERIAL AND METHODS: A retrospective cohort was stratified into three activity groups (g1-students/telework/laid-off; g2-unemployed/retired; g3-work without lockdown). Continuous and categorical variations (reductions≥0.4%) in glycated haemoglobin were obtained in 2020 (t3:December/2019-March/2020; t4:April/2020-July/2020) and in homologous periods of 2019. Intragroup comparisons between years and intergroups in the same year were made. Regression models were developed to predict the variation of glycated haemoglobin in 2020. RESULTS: 241 participants were included, with a significant reduction between t4 and t3 (vs. t2 and t1) in g1 (p<0.001) and g2 (p=0.025) and in 2020 in g1 (vs. g2, p<0.001; vs. g3, p<0.001). Only g1 presented superiority in the reduction ≥0.4% in glycated haemoglobin in 2020 (vs. 2019, p<0.001; vs. g2, p<0.001; vs. g3, p<0.001). The insulin regimens were comparable and the development of hypoglycaemia was found to be superimposed between t3 and t4, except for g1, which was higher at t3 (p=0.029). G1 correlated with continuous reductions (vs. g2, p=0.001; vs. g3, p<0.001) and ≥0.4% in glycated haemoglobin in 2020 (vs. g2, OR 3.6, p<0.001; vs. g3, OR 12.7, p<0.001), regardless of the age and duration of type 1 diabetes. CONCLUSIONS: A more stable and better glycaemic control was observed in participants who transitioned from face-to-face work to total lockdown.


Subject(s)
COVID-19 , Diabetes Mellitus, Type 1 , Adult , Communicable Disease Control , Diabetes Mellitus, Type 1/drug therapy , Glycated Hemoglobin , Glycemic Control , Humans , Pandemics , Retrospective Studies
8.
Acta Diabetol ; 59(10): 1361-1368, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35879479

ABSTRACT

AIMS: To access the impact of increasing use of metformin on cesarean section and large for gestational age rates, when compared to insulin. METHODS: A retrospective observational study was developed using data from the Portuguese National Registry, between 2011 and 2019, of 5038 Portuguese women with single pregnancies and gestational diabetes treated with metformin and/or insulin. Three groups were defined according to the therapeutic regimen adopted: g1-insulin in monotherapy (n = 3027[60.1%]); g2-metformin in monotherapy (n = 1366[27.1%]); g3-metformin and insulin (n = 645[12.8%]). Multivariate analysis was adjusted for statistically significant covariates. RESULTS: The cesarean section rate in g1 was similar to g2 (g1:36.9% vs. g2:37%, p = 0.982), although g3 was associated with cesarean delivery (g3:43.6% vs. g1:36.9%, p = 0.005; g3:43.6% vs. g1:37.0%, p = 0.002), with no differences reported in the multivariate analysis adjusted for year of delivery and pregestational body mass index. A delivery of a large for gestational age newborn was less frequently observed in g2 than in g1 (g2:4.1% vs. g1:5.4%, p = 0.044) and in g3 (g2:4.1% vs. g3:9.1%, p < 0.001), and in g1, when compared to g3 (g1:5.4% vs. g3:9.1%, p < 0.001). In the multivariate analysis, g2 showed lower odds of delivering a large for gestational age newborn, compared to g1 (ß = -0.511, OR = 0.596, CI95% = 0.428-0.832, p < 0.001). CONCLUSIONS: The use of metformin was not associated with higher cesarean section rates, compared to insulin. Instead, it was suggested a protective role of metformin on large gestational age rates. The concomitant use of dual therapy suggests more complex pregnancies, requiring closer surveillance that mitigate serious perinatal and obstetrical outcomes.


Subject(s)
Diabetes, Gestational , Metformin , Birth Weight , Cesarean Section , Diabetes, Gestational/drug therapy , Diabetes, Gestational/epidemiology , Female , Humans , Infant, Newborn , Insulin/therapeutic use , Metformin/therapeutic use , Portugal/epidemiology , Pregnancy
9.
Int J Hypertens ; 2022: 1022044, 2022.
Article in English | MEDLINE | ID: mdl-35774421

ABSTRACT

Background: Evidence regarding blood pressure (BP) variability (BPV) and its independent association with adverse outcomes has grown. Diabetic patients might have increased BPV, but there is still an evidence gap regarding relation between BPV and type 2 diabetes beyond mean values of BP. Objective: To examine the relationship between 24 h ambulatory BP monitoring (ABPM, short-term variability) and visit-to-visit in-office BPV (OBP, long-term variability), in diabetics (D) and nondiabetics (ND), and to explore BPV relation with estimated glomerular filtration rate (eGFR), and pulse wave velocity (PWV) as indicators of target organ lesion. Materials and Methods: We conducted a single-center cross-sectional study in an outpatient BP unit, including adult patients consecutively admitted from 1999 to 2019. Multivariate was performed to compare BPV between D and ND adjusted for clinical variables. Pearson's correlation was performed to evaluate relation of BPV with eGFR and PWV. Results: A total of 1123 patients with ABPM and OBP measurements were included. Values of eGFR and PWV were worse in D than in ND. Measurements of OBPV did not differ between groups. Of ABPM BPV, the coefficient of variation and standard deviation for daytime systolic BP were higher in D compared to ND, but only in ND did BPV correlated with both eGFR and PWV. Conclusion: We found that diabetes is associated with higher variability of daytime BP than nondiabetics along with worse damage of vascular and renal function. However, in contrast to nondiabetics, in diabetics eGFR and PWV may not be dependent on BP variability, suggesting that other mechanisms might explain more rigorously the greater damage of target organ lesion markers.

10.
Cureus ; 14(2): e21958, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35282562

ABSTRACT

Positron emission tomography (PET) tracers (Fluorine-18 Fluorocholine [18F-Fluorocholine] and Carbon-11 Choline [11C-Choline]) have been widely used with promising accuracy in detecting abnormal parathyroids, being crucial for an effective and safe minimally invasive parathyroidectomy. We report a case of a 72-year-old woman with a long-term personal history of osteoporosis and recurrent nephrolithiasis with the need for invasive interventions. Primary hyperparathyroidism was biochemically assumed, although localization of the hyperfunctioning parathyroid had been challenging since cervical ultrasound and technetium-99m sestamibi scintigraphy were negative/equivocal. An 18F-Fluorocholine positron emission tomography/computed tomography (PET/CT) was performed, having identified a small cervical nodule with increased tracer uptake, compatible with a right parathyroid adenoma. After its removal, the patient went into clinical and biochemical remission. 18F-Fluorocholine PET/CT allowed an effective and safe parathyroidectomy as conventional imaging modalities were inaccurate in detecting the abnormal parathyroid, in this patient with serious hyperparathyroidism-related complications.

11.
Endocrinol Diabetes Nutr ; 69(7): 476-482, 2022.
Article in English | MEDLINE | ID: mdl-35128336

ABSTRACT

Introduction: In a person with type 1 diabetes, any change concerning daily routine may lead to changes in glycaemic control. This study aimed to evaluate the impact of work and lockdown on glycaemic control in adults with type 1 diabetes. Material and methods: A retrospective cohort was stratified into three activity groups (g1-students/telework/laid-off; g2-unemployed/retired; g3-work without lockdown). Continuous and categorical variations (reductions ≥ 0.4%) in glycated haemoglobin were obtained in 2020 (t3:December/2019-March/2020; t4:April/2020-July/2020) and in homologous periods of 2019. Intragroup comparisons between years and intergroups in the same year were made. Regression models were developed to predict the variation of glycated haemoglobin in 2020. Results: 241 participants were included, with a significant reduction between t4 and t3 (vs. t2 and t1) in g1 (p < 0.001) and g2 (p = 0.025) and in 2020 in g1 (vs. g2, p < 0.001; vs. g3, p < 0.001). Only g1 presented superiority in the reduction ≥0.4% in glycated haemoglobin in 2020 (vs. 2019, p < 0.001; vs. g2, p < 0.001; vs. g3, p < 0.001). The insulin regimens were comparable and the development of hypoglycaemia was found to be superimposed between t3 and t4, except for g1, which was higher at t3 (p = 0.029). G1 correlated with continuous reductions (vs. g2, p = 0.001; vs. g3, p < 0.001) and ≥0.4% in glycated haemoglobin in 2020 (vs. g2, OR 3.6, p < 0.001; vs. g3, OR 12.7, p < 0.001), regardless of the age and duration of type 1 diabetes. Conclusions: A more stable and better glycaemic control was observed in participants who transitioned from face-to-face work to total lockdown.


Introducción: En una persona con diabetes tipo 1, cualquier cambio en la rutina diaria puede provocar cambios en el control glucémico. Este estudio tuvo como objetivo evaluar el impacto del trabajo y el confinamiento en el control glucémico en adultos con diabetes tipo 1. Material y métodos: Se estratificó una cohorte retrospectiva en tres grupos de actividad (g1-estudiantes/teletrabajo/despido; g2-desempleados/jubilados; g3-trabajo sin encierro). Se obtuvieron variaciones continuas y categóricas (reducciones ≥ 0,4%) en la hemoglobina glucosilada en 2020 (t3: diciembre/2019-marzo/2020; t4: abril/2020-julio/2020) y en períodos homólogos de 2019. Se desarrollaron modelos de regresión para predecir la variación de la hemoglobina glucosilada en 2020. Resultados: Se incluyeron 241 participantes, con una reducción significativa entre t4 y t3 (vs. t2 y t1) en g1 (p < 0,001) y g2 (p = 0,025) y en 2020 en g1 (vs. g2, p < 0,001; vs. g3, p < 0,001). Solo g1 demostró superioridad en la reducción ≥ 0,4% de la hemoglobina glucosilada en 2020 (vs. 2019, p < 0,001; vs. g2, p < 0,001; vs. g3, p < 0,001). Los regímenes de terapia con insulina fueron comparables y el desarrollo de hipoglucemia fue superponible entre t3 y t4, excepto para g1, que fue mayor en t3 (p = 0,029). G1 se correlacionó con reducciones continuas (vs. g2, p = 0,001; vs. g3, p < 0,001) y ≥ 0,4% en la hemoglobina glucosilada en 2020 (vs. g2, odds ratio [OR] 3,6, p < 0,001; vs. g3, OR 12,7, p < 0,001), independientemente de la edad y la duración de la diabetes tipo 1. Conclusiones: Se observó un control glucémico más optimizado a los participantes que pasaron del trabajo presencial al confinamiento total.

13.
Eur J Case Rep Intern Med ; 8(12): 003099, 2021.
Article in English | MEDLINE | ID: mdl-35059351

ABSTRACT

Pituitary adenomas are the most common cause of hypopituitarism associated with pituitary enlargement, but other aetiologies have been emerging, namely immune checkpoint inhibitor-induced hypophysitis (ipilimumab, nivolumab and pembrolizumab). Secukinumab is a recently approved human monoclonal antibody used for the treatment of psoriasis, with no know reported cases of hypophysitis. We describe a challenging case of panhypopituitarism in a patient with a pituitary incidentaloma and a temporal relationship between secukinumab initiation and the manifestation of clinical features suggestive of hypopituitarism. In such intricate work-up, the differential diagnoses should be carefully considered, taking into account the therapeutic and prognostic implications. LEARNING POINTS: Pituitary adenomas are the leading cause of hypopituitarism associated with pituitary enlargement, but clinicians should be aware of non-tumoural causes such as hypophysitis.Drug-induced hypophysitis has been described with immune checkpoint inhibitors used for diverse types of malignancies, but there is no evidence of an association between hypophysitis and the novel antipsoriatic agent, secukinumab.The differential diagnosis of hypopituitarism requires careful investigation so that management is appropriate and prognosis is improved.

14.
Case Rep Orthop ; 2019: 3526018, 2019.
Article in English | MEDLINE | ID: mdl-31772800

ABSTRACT

INTRODUCTION: Pipkin fractures are rare events and usually occur as a consequence for high-energy trauma. Surgery to obtain anatomical reduction and fixation is the mainstay treatment for the majority of these injuries; nonetheless, controversy exists regarding the best surgical approach. DESCRIPTION OF THE CASE: We present the case of a 41-year-old male, which sustained a type II Pipkin fracture following a motorcycle accident. In the emergency department, an emergent closed reduction was performed, followed by surgery five days later. Using a surgical hip dislocation, a successful anatomical reduction and fixation was performed. After three years of follow-up, the patient presented with a normal range of motion, absent signs for avascular necrosis or posttraumatic arthritis, but with a grade II heterotopic ossification. DISCUSSION: Safe surgical hip dislocation allows full access to the femoral head and acetabulum, without increasing the risk for a femoral head avascular necrosis or posttraumatic arthritis. Simultaneously, this surgical approach gives the opportunity to repair associated acetabular or labral lesions, which explains the growing popularity with this technique. CONCLUSION: Although technically demanding, safe surgical hip dislocation represents an excellent option in the reduction and fixation for Pipkin fractures.

15.
Rev Port Cardiol (Engl Ed) ; 37(5): 435-446, 2018 May.
Article in English, Portuguese | MEDLINE | ID: mdl-29636202

ABSTRACT

Sudden cardiac death is a major public health challenge, which can be caused by genetic or acquired structural or electrophysiological abnormalities. These abnormalities include hereditary channelopathies: long QT, short QT and Brugada syndromes. These syndromes are a notable concern, particularly in young people, due to their high propensity for severe ventricular arrhythmias and sudden cardiac death. Current evidence suggests the involvement of an increasing number of drugs in acquired forms of long QT and Brugada syndromes. However, drug-induced short QT syndrome is still a rarely reported condition. Therefore, there has been speculation on its clinical significance, since few fatal arrhythmias and sudden cardiac death cases have been described so far. Drug-induced proarrhythmia is a growing challenge for physicians, regulatory agencies and the pharmaceutical industry. Physicians should weigh the risks of potentially fatal outcomes against the therapeutic benefits, when making decisions about drug prescriptions. Growing concerns about its safety and the need for more accurate predictive models for drug-induced fatal outcomes justify further research in these fields. The aim of this article is to comprehensively and critically review the recently published evidence with regard to drug-induced life-threatening arrhythmias and sudden cardiac death. This article will take into account the provision of data to physicians that are useful in the identification of the culprit drugs, and thus, contribute to the prompt recognition and management of these serious clinical conditions.


Subject(s)
Arrhythmias, Cardiac/chemically induced , Brugada Syndrome/chemically induced , Death, Sudden, Cardiac/etiology , Long QT Syndrome/chemically induced , Humans , Severity of Illness Index
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