Metastatic Myoepithelial Carcinoma Ex Pleomorphic Adenoma of the Sublingual Salivary Gland

Myoepithelial carcinoma ex pleomorphic adenoma is a very rare malignant neoplasm of the salivary gland. Owing to its rarity, its clinical features and treatment are not well characterized. We describe a case of a patient who was referred to our department with a six-month history of a bulge on the right side of the floor of the mouth and a submandibular mass with progressive enlargement. The mass was resected, and an elective level I neck dissection was performed. Histological examination revealed myoepithelial carcinoma ex pleomorphic adenoma of the sublingual salivary gland. Thoracic computed tomography and biopsy revealed lung metastases. The patient died two years after the diagnosisinfo:eu-repo/semantics/publishedVersio

Acute total occlusion of the unprotected left main coronary artery: Patient characteristics and outcomes

Introduction and objectives: Acute total occlusion of the unprotected left main coronary artery (LMCA) is a dramatic event. There are limited data regarding this population. We aimed to describe the clinical presentation and outcomes of patients and to determine predictors of in-hospital mortality. Methods: This retrospective study included patients presenting with acute (<12 h) myocardial infarction due to total occlusion of the LMCA (TIMI flow 0) between January 2008 and December 2020 in three tertiary hospitals. Results: During this period, 11036 emergent coronary angiographies were performed, 59 (0.5%) of which revealed acute total occlusion of the LMCA. Patients' mean age was 61.2 (SD±12.2) years and 73% were male. No patients had left dominance. At presentation, 73% were in cardiogenic shock, aborted cardiac arrest occurred in 27% and 97% underwent myocardial revascularization. Primary percutaneous coronary intervention was performed in 90% of cases and angiographic success was achieved in 56% of procedures, while 7% of patients underwent surgical revascularization. In-hospital mortality was 58%. Among survivors, 92% and 67% were alive after one and five years, respectively. After multivariate analysis, only cardiogenic shock and angiographic success were independent predictors of in-hospital mortality. Use of mechanical circulatory support and presence of well-developed collateral circulation were not predictive of short-term prognosis. Conclusion: Acute total occlusion of the LMCA is associated with a dismal prognosis. Cardiogenic shock and angiographic success play a major role in predicting the prognosis of these patients. The effect of mechanical circulatory support on patient prognosis remains to be determined.info:eu-repo/semantics/publishedVersio

Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling–case report

ntellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, in whom the finding of a heterozygous nonsense pathogenic variant in exon 5 of HIVEP2 [c.2827C>T p. (Arg943*)] through WES established a MRD43 diagnosis. Our patient's phenotype overlaps with other MRD43 descriptions in the literature. Unlike previously reported cases, where the condition was almost invariably de novo, the healthy mother in this case presented mosaicism for the pathogenic variant. Thus, the recurrence risk increased significantly from 1% to up to 50%. The description of a variant inherited for MDR43 is singular in the literature and this description highlights the importance of parental studies for accurate genetic counseling, particularly for family planning.info:eu-repo/semantics/publishedVersio

Intratendinous Ganglion Cyst of the Extensor Indicis: A Case Report

An intratendinous ganglion cyst is a very rare benign lesion with an unknown etiology. The clinical diagnosis can be difficult as patients may have mild symptoms or impaired hand functionality. Ultrasound and magnetic resonance imaging can differentiate a ganglion cyst from other soft-tissue tumors and tumor-like lesions and provide excellent information on the location of an intratendinous lesion to schedule surgical treatment. We present a case report of a 50-year-old female diagnosed with an intratendinous ganglion cyst of the extensor indicis. She complained of right-hand swelling for three months, which was associated with pain. The US revealed an oval hypoechoic mass with cystic formation at the extensor indicis, measuring 9 x 4 mm, compatible with an intratendinous ganglion cyst. The cyst was excised by enucleation. After surgery, the patient was referred to the Department of Physical and Rehabilitation Medicine for evaluation. She started a rehabilitation programme. The patient presented a favourable clinical evolution with a return to her previous professional activity. However, six months after surgery, the cyst recurred, but with a smaller size and no associated paininfo:eu-repo/semantics/publishedVersio

Portuguese Heart Failure Prevalence Observational Study (PORTHOS) rationale and design – A population-based study

Introduction and objectives: Current epidemiological data on heart failure (HF) in Portugal derives from studies conducted two decades ago. The main aim of this study is to determine HF prevalence in the Portuguese population. Using current standards, this manuscript aims to describe the methodology and research protocol applied. Methods: The Portuguese Heart Failure Prevalence Observational Study (PORTHOS) is a large, three-stage, population-based, nationwide, cross-sectional study. Community-dwelling citizens aged 50 years and older will be randomly selected via stratified multistage sampling. Eligible participants will be invited to attend a screening visit at a mobile clinic for HF symptom assessment, anthropomorphic assessment, N-terminal pro-B-type natriuretic peptide (NT-proBNP) testing, one-lead electrocardiogram (ECG) and a sociodemographic and health-related quality of life questionnaire (EQ-5D). All subjects with NT-proBNP ≥125 pg/mL or with a prior history of HF will undergo a diagnostic confirmatory assessment at the mobile clinic composed of a 12-lead ECG, comprehensive echocardiography, HF questionnaire (KCCQ) and blood sampling. To validate the screening procedure, a control group will undergo the same diagnostic assessment. Echocardiography results will be centrally validated, and HF diagnosis will be established according to the European Society of Cardiology HF guidelines. A random subsample of patients with an equivocal HF with preserved ejection fraction diagnosis based on the application of the Heart Failure Association preserved ejection fraction diagnostic algorithm will be invited to undergo an exercise echocardiography. Conclusions: Through the application of current standards, appropriate methodologies, and a strong research protocol, the PORTHOS study will determine the prevalence of HF in mainland Portugal and enable a comprehensive characterization of HF patients, leading to a better understanding of their clinical profile and health-related quality of life.info:eu-repo/semantics/publishedVersio

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

Life-threatening "breakthrough" cases of critical COVID-19 are attributed to poor or waning antibody (Ab) response to SARS-CoV-2 vaccines in individuals already at risk. Preexisting auto-Abs neutralizing type I IFNs underlie at least 15% of critical COVID-19 pneumonia cases in unvaccinated individuals; their contribution to hypoxemic breakthrough cases in vaccinated people is unknown. We studied a cohort of 48 individuals (aged 20 to 86 years) who received two doses of a messenger RNA (mRNA) vaccine and developed a breakthrough infection with hypoxemic COVID-19 pneumonia 2 weeks to 4 months later. Ab levels to the vaccine, neutralization of the virus, and auto-Abs to type I IFNs were measured in the plasma. Forty-two individuals had no known deficiency of B cell immunity and a normal Ab response to the vaccine. Among them, 10 (24%) had auto-Abs neutralizing type I IFNs (aged 43 to 86 years). Eight of these 10 patients had auto-Abs neutralizing both IFN-α2 and IFN-ω, whereas two neutralized IFN-ω only. No patient neutralized IFN-β. Seven neutralized type I IFNs at 10 ng/ml and three at 100 pg/ml only. Seven patients neutralized SARS-CoV-2 D614G and Delta efficiently, whereas one patient neutralized Delta slightly less efficiently. Two of the three patients neutralizing only type I IFNs at 100 pg/ml neutralized both D614G and Delta less efficiently. Despite two mRNA vaccine inoculations and the presence of circulating Abs capable of neutralizing SARS-CoV-2, auto-Abs neutralizing type I IFNs may underlie a notable proportion of hypoxemic COVID-19 pneumonia cases, highlighting the importance of this particularly vulnerable population.info:eu-repo/semantics/publishedVersio

Iatrogenic Cushing’s Syndrome: The Result of Cobicistat and Glucocorticoid Interaction in an HIV Patient After Bariatric Surgery

Cobicistat, used as a pharmacokinetic booster in therapeutic combination with human immunodeficiency virus (HIV) protease inhibitors and integrase inhibitors, is a strong inhibitor of cytochrome P450 3A4 (CYP3A4). Since most glucocorticoids are metabolized by the isoenzyme of the cytochrome P450 pathway, their plasma concentrations can be highly increased in the presence of cobicistat-boosted darunavir, with subsequent risk of iatrogenic Cushing's syndrome (ICS) and secondary adrenal insufficiency. We report a case of a 45-year-old man with HIV-hepatitis C virus co-infection treated with raltegravir and darunavir/cobicistat since 2019. In May 2021, he underwent a sleeve gastrectomy due to morbid obesity (BMI: 50.9 kg/m2) with multiple comorbidities. Four months after surgery, he was diagnosed with asthma and was started on inhaled budesonide, which was later changed to fluticasone propionate. At the 12-month postoperative visit, the patient referred proximal muscle weakness and asthenia, and suboptimal weight loss (excess weight loss of 39%) and high blood pressure were documented. Moon facies, buffalo hump, and abdominal large vinous striae were evident on physical examination. Laboratory studies showed impaired glucose metabolism and hypokalemia. Cushing's syndrome was suspected and further investigation confirmed its iatrogenic origin. The diagnosis of ICS and consequent secondary adrenal insufficiency due to an interaction between the darunavir/cobicistat combination and budesonide/fluticasone was established. Darunavir/cobicistat therapy was replaced by dolutegravir/doravirine dual therapy, inhaled corticoid was switched to beclomethasone, and glucocorticoid substitutive therapy was introduced. This is a particular case of overt ICS due to cobicistat-inhaled corticosteroid interaction in a superobese patient, developed after he underwent bariatric surgery. The presence of morbid obesity, combined with the rarity of this pharmacological complication in individuals taking cobicistat, made the correct diagnosis even more challenging. A meticulous review of pharmacologic habits and potential interactions is essential to avoid serious harm to patients.info:eu-repo/semantics/publishedVersio

Adrenal Crisis During Cesarean Section in a Patient With Primary Adrenal Insufficiency

Congenital adrenal hyperplasia (CAH) is a type of primary adrenal insufficiency (AI) that predisposes to adrenal crisis (AC) during stress. We describe a case of a primipara with CAH who was admitted in labor. To prevent AC, glucocorticoid replacement was given according to guidelines. Due to fetal decelerations, an emergency C-section was performed under general anesthesia following which refractory hypotension emerged. The diagnosis of AC was considered, and hydrocortisone was given with sustained hemodynamic improvement. AC is a life-threatening emergency whose diagnosis requires a high index of suspicion. Despite adequate steroid coverage, additional stressors may precipitate AC, so it is of paramount importance that anesthesiologists consider this emergencyinfo:eu-repo/semantics/publishedVersio

Pediatric Thyroidectomy: Experience From a Portuguese Hospital

Background and objective Pediatric thyroid disease requiring surgery is rare. Thyroid nodules are a frequent indication for surgery and are mostly benign. However, up to 25% of cases can be malignant. In this study, we aimed to describe our center's experience with regard to pediatric thyroid surgery. Methods This was a retrospective transverse study involving pediatric patients who underwent thyroid surgery at a tertiary hospital between January 2010 and December 2021. Results A total of 14 patients underwent 15 surgeries. The main reason for referral to pediatric endocrinology was thyroid nodules (n=10). Thirteen fine needle aspirations (FNAs) were performed, with follicular tumor (n=6) being the most common finding. The median age of patients at surgery was 15.9 years [interquartile range (IQR): 14.0-16.8]. The most common surgical indications were the presence of a follicular tumor on FNA (n=5) and thyroid nodule size causing symptoms (n=5). There was one case of prophylactic thyroidectomy due to the identification of a multiple endocrine neoplasia type 2A (MEN2A) mutation. The most frequently described histopathology results were follicular adenoma (n=6) and colloid nodular goiter (n=6). Three postoperative complications were observed in three different patients: bilateral lesion of the recurrent laryngeal nerve, cervical hematoma, and transient hypoparathyroidism with hypocalcemia. Conclusion In our study, the most frequent surgical indication was a follicular tumor. A good correlation was found between FNA cytology and final histopathology results, which is in accordance with previous studies. This reinforces the importance of FNA in diagnosis and surgical planning. The rate of complications in our study is comparable to that in larger single-center series in the literature.info:eu-repo/semantics/publishedVersio

Elective Revision Surgery in Head and Neck Cancer Patients: A Retrospective Analysis at an Oncology Centre in Porto, Portugal

Introduction Elective revision surgery in head and neck cancer is crucial for refining and optimizing outcomes, ensuring complete tumor removal, and enhancing both functional and aesthetic aspects, ultimately improving the overall quality of life for patients. The aim of this study is to analyze the overall survival (OS) of head and neck cancer patients who underwent elective revision surgery with or without adjuvant treatment between 2019 and 2022, reflecting on the practice between those years in IPO-Porto, Porto, Portugal. Methods This study included 58 patients who underwent 116 major neck surgeries. Multidisciplinary head and neck follow-up records were obtained for every patient. Overall survival and disease-specific survival (DSS) curves were calculated using the Kaplan-Meier method, and statistical significance was determined by the Log-Rank test. We did a retrospective study with an anterograde direction, evaluating the treatments that were previously done by the patients. Results The sample comprised 51 males (87.9%) and seven females (12.1%), with a mean age of 59.02±11.014 years. Head and neck pathology was mostly in the larynx (36.2%). The type of the first surgery was mainly directed to the primary tumor in 62.1% (n=36). In the other 37.9% (n=22), surgery was directed to the primary tumor in association with neck dissection. The type of the second surgery was mainly revision surgery. We found that T4 tumors (HR (hazard ratio) = 10.219, p = 0.006) and hypopharynx tumors (HR = 5.306, p =0.035) were significantly associated with inferior OS. Conclusion In our sample, we found that a T4 and a tumor located in the hypopharynx were significantly associated with inferior OS in elective head and neck oncologic revision surgery. Disease-free survival in patients undergoing revision surgery in our sample is generally poor. In our sample, there was a statistically significant difference in overall survival between the group who underwent surgery for microscopic evidence of persistent tumor (R1) versus clinical and imagiological tumoral persistency. In our sample, the time between the first and second surgeries wasn't linked with an inferior OS. Further studies with larger populations and prospective design, with longer follow-ups can be the road to a better understanding of this issue.info:eu-repo/semantics/publishedVersio