Amyotrophic Lateral Sclerosis-Related Respiratory Failure and Association With Inappropriate Secretion Syndrome of the Antidiuretic Hormone.

There is an unclear association between the syndrome of inappropriate antidiuretic hormone secretion (SIADH) and amyotrophic lateral sclerosis (ALS), with few reports in the literature. We report the case of an 80-year-old man admitted to our emergency room with asthenia, dysphonia, dysphagia, weight loss, and euvolemic hyponatremia, indicating a SIADH. Posteriorly, the patient also developed respiratory failure, which, in association with the previous clinical presentation, led to the diagnosis of ALS. During her permanence at the hospital, the hyponatremia improved with noninvasive positive-pressure ventilation, and the association between these two identities was made. This case also shows that patients with ALS commonly suffer from chronic respiratory failure and still have a reserved prognosis.

Boerhaave's Syndrome: A Case Report.

Boerhaave's syndrome is a rare spontaneous perforation of the esophagus with high mortality. The diagnosis is difficult because it has no specific symptom. It requires urgent intervention. We report the case of a 63-year-old male admitted to the emergency department with respiratory distress. Chest computed tomography (CT) revealed large, bilateral, and tension hydropneumothorax, stomach distention, and aerobilia. Thoracic drainage was performed immediately. Control CT revealed esophagus perforation in the middle third of the esophagus with extravasation of the contrast product from the esophagus to the pleura. Urgent surgery was performed, and the patient was admitted to the intensive care unit (ICU) with septic shock. Early diagnosis and management with a damage control approach including thoracic drainage and surgery are essential to improve prognosis and reduce mortality.

Favism: A Case Report.

Favism is an acute hemolytic syndrome that occurs in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency following the ingestion of fava beans. Diagnosis can be challenging because the severity of hemolytic anemia varies among this patient population. Furthermore, the severity of hemolytic episodes can vary in the same patient. The diagnosis of G6PD deficiency and patient education pertaining to safe and unsafe medications and foods are crucial to prevent the reoccurrence of hemolytic episodes. Here, we report the case of a man admitted to our hospital with an acute hemolytic episode. At the time of admission, we were unaware that he had ingested fava beans and only discovered that he had G6PD deficiency while performing complementary studies during the hemolytic crisis to determine its etiology.

Noninvasive fibrosis tools in NAFLD: validation of APRI, BARD, FIB-4, NAFLD fibrosis score, and Hepamet fibrosis score in a Portuguese population.

OBJECTIVES: The burden of nonalcoholic fatty liver disease (NAFLD) is increasing, with an estimated prevalence in Europe of 20-30%. Although most patients present with simple steatosis, some progress to advanced fibrosis, cirrhosis, and hepatocellular carcinoma. Definite diagnosis and staging require liver biopsy, which is not feasible given the high prevalence of NAFLD. As such, several noninvasive tools have been formulated. However, to date, none have been validated in the Portuguese population. The aim of this study was to determine the diagnostic accuracy of the aspartate aminotransferase to platelet ratio (APRI), the BMI, AST/ALT ratio and Diabetes (BARD), the FIB-4 Index (FIB-4), the Hepamet fibrosis score (HFS), and the NAFLD fibrosis score (NFS) in a Portuguese population. METHODS: A retrospective review of liver biopsies from two hospital centers was performed. Patients with NAFLD and no decompensated cirrhosis, liver cancer, or terminal illness were included. APRI, BARD, FIB-4, HFS, and NFS were calculated for each patient. RESULTS: A total of 121 individuals were included, of which 21.5% had advanced fibrosis (F ≥ 3). There was a moderate or high correlation between most tools. The negative predictive factor (NPV) and area under receiver operating curve (AUROC) were 89.9% and 0.80 for APRI, 91.8% and 0.84 for BARD, 95.7% and 0.88 for FIB-4, 96.4% and 0.88 for HFS, and 93.0% and 0.86 for NFS, respectively. CONCLUSION: The tools analyzed had excellent performance (AUROC ≥ 0.80) and were adequate for ruling out advanced fibrosis (NPV ≥ 89.9%) in a Portuguese population. As such, they are adequate for use in clinical practice or as a part of referral and follow-up programs wherever this population is treated. ABBREVIATIONS: APRI - aspartate aminotransferase to platelet ratio, ALT - alanine aminotransferase, AST - aspartate aminotransferase, BARD - BMI, AST/ALT ratio and Diabetes, BMI - body mass index, FIB-4 - FIB-4 index, HCC - hepatocellular carcinoma, HFS - Hepamet fibrosis score, HOMA-IR - homeostatic model assessment for insulin resistance, IQR - interquartile range, MAFLD - metabolic associated fatty liver disease, NAFLD - nonalcoholic fatty liver disease, NASH - nonalcoholic steatohepatitis, NFS - NAFLD fibrosis score, OMIC - genomics, transcriptomics, proteomics, and metabolomics, T2DM - type 2 diabetes mellitus.

Granulomatosis with Polyangiitis: Recurrence or Treatment Consequences?

Granulomatosis with polyangiitis (GPA) is the most common antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). We describe the case of a 38-year-old woman with relapsing GPA who presented with intracranial hypertension, followed by the appearance of cavitated lung nodules despite treatment with azathioprine. Clinical improvement and ANCA titre reduction were observed after rituximab treatment. We report a rare form of GPA relapse and highlight the challenge of following-up patients with GPA, in whom can be hard to distinguish relapse from the consequences of long-term immunosuppression. LEARNING POINTS: Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare inflammatory disease with pauci-immune focal necrotising lesions that affect small and medium vessels. It has a wide clinical presentation, affecting mainly the upper and lower respiratory tract and kidneys.Granulomatosis with polyangiitis (GPA) is frequently associated with PR3-ANCA and is risk factor for relapse.Follow-up of ANCA titres, which may rise before the development of symptoms, is crucial for recurrence diagnosis. Titres can also be used to distinguish recurrence from the consequences of long-term immunosuppression.