Hospital de Santo António

Background. The diagnosis of immediate drug allergy (DA) relies on a combination of skin tests (ST), drug provocation tests (DPT), specific IgE levels (sIgE) and/or basophil activation tests (BAT). We aimed to compare BAT results with those of other allergy tests in patients with suspected immediate DA to a heterogeneous group of drugs, aiming to assess its diagnostic value. Methods. Patients who underwent BAT for suspected immediate DA at our hospital from January 2018 to December 2023 were included. Each case (suspected drug) was classified based on diagnostic tests performed - probable vs. improbable allergy (assessed by ST and/or sIgE only) or confirmed vs. excluded allergy (assessed by DPT). Inter-method agreement was assessed with Cohen's kappa index (κ). Results. Eighty-five patients were included: 51 female (60.0%), median age 53.0 years [interquartile range (IQR) = 33.0, Q1-Q3=31.0-64.0]. Median time elapsed since index reaction was 1.0 year [IQR=3.0, Q1-Q3 = 1.0-3.0]. We identified 112 suspected drugs: out of 16 cases with positive BAT (14.3%), 6 were probable (37.5%) and 1 confirmed allergy (6.3%). From 89 drugs with negative BAT (79.5%), 41 were improbable (46.1%) and 5 excluded allergy (5.6%). Seven agents had an inconclusive BAT (6.3%). A slight agreement (κ = 0.201) between BAT and other studies was observed when combining probable/improbable and confirmed/excluded results (n = 76). When limiting these findings to confirmed/excluded results (n=6), we found a perfect agreement (κ = 1). Conclusions. We assessed BAT performance in a larger sample than those from previous studies. Slight agreement between methods increased to a perfect agreement when limiting to confirmed cases. Larger studies are needed to establish BAT's diagnostic value.

Background: Finasteride, a 5α-reductase inhibitor (5αRI) for benign prostatic hyperplasia and androgenetic alopecia (AGA), has been linked to persistent multisystemic symptoms—most often sexual dysfunction—that may appear during or after use and persist post-discontinuation. Case Description: A 26-year-old man treated with finasteride 1 mg for AGA discontinued therapy after 6 months due to genital hypoesthesia and reduced ejaculatory potency. Other physical, psychological, and relational causes were excluded. Symptoms persisted 19 months after cessation. Discussion: Reports of persistent adverse effects (≥3 months) have increased, without correlation to dose, age, or treatment duration. Prevalence, mechanisms, and symptom duration are unclear; cases exceeding 40 months are documented. Though mainly sexual in nature, symptoms can include neurological, hormonal, and psychiatric issues, with no proven treatment. Conclusion: Post-finasteride syndrome (PFS), though rare, significantly impacts quality of life, with unclear etiology and no definitive treatment. Risk-benefit assessment and informed patient consent are essential before prescription.

Heart failure (HF) remains a major clinical and public health challenge in Portugal, associated with high morbidity, mortality, and economic burden. Despite notable therapeutic advances, the degree of underdiagnosis in Portugal remains substantial, as evidenced by findings from the recent Portuguese Heart Failure Prevalence Observational Study (PORTHOS), which estimated that 90% of identified cases corresponded to new diagnoses. Early detection of HF in primary care (PC) is crucial for the implementation of cost-effective strategies capable of modifying the disease course. Natriuretic peptides, particularly NT-proBNP, have consistently demonstrated robust utility as a tool for ruling-out HF diagnosis and are recommended by leading international societies for outpatient use due to their reliability and analytical stability. In Portugal, however, several barriers hinder their systematic use in primary care, including the absence of specific NT proBNP coding within prescribing and laboratory reporting systems, as well as persistent uncertainty regarding appropriate reference values. To address these gaps, a multidisciplinary working group was convened, including representatives from Cardiology, Internal Medicine, and General Practice/Family Medicine, in collaboration with the Portuguese Society of Cardiology and its Heart Failure Working Group, the Heart Failure Study Group of the Portuguese Society of Internal Medicine, the Portuguese Association of Family Medicine, the National Association of Family Health Units, the National Association of Clinical Laboratories, and the Portuguese Association of Clinical Analysts. This document, resulting from a literature review and structured expert consensus, proposes three technical recommendations to foster the appropriate and standardized use of NT-proBNP in Portuguese PC: (1) the use of NT-proBNP as the preferred biomarker for HF diagnosis in primary care; (2) the adoption of NT-proBNP cut-off values for exclusion (rule-out) and confirmation (rule-in) of HF, in alignment with international recommendations; and (3) the implementation of specific reporting guidance for clinical laboratories. Furthermore, it calls upon national health authorities to effectively integrate NT-proBNP into the National Health System, thereby contributing to reducing HF underdiagnosis in Portugal and improving health outcomes.

The majority of breast cancers (BCs) are classified as human epidermal growth factor receptor 2 (HER2)-negative.Within this group, more than halfshow low levels of HER2 expression, defined as an immunohistochemistry (IHC) score of 1+ or 2+ with a negative result on reflex in situ hybridization.The clinical and biological relevance of this HER2-low category remains under investigation, particularly regarding response to systemic therapy. A national, multicentric, prospective, and observational study was conductedto evaluate the value of HER2-low as a predictive marker of pathological complete response (pCR) to neoadjuvant treatment in BC. Patients with HER2-low or HER2-zero (IHC 0), diagnosed at clinical stage I-III, were identified and followed throughout neoadjuvant treatment, consisting of chemotherapy ± immune checkpoint inhibitors, and subsequent surgery. Differences in subgroups and pCR were assessed using appropriate statistical tests. A total of 128 patients were included, of which 46% were HER2-low and 54% were HER2-zero, with a median age of 54 years and a median follow-up of 12 months. Within the HER2-low group, 68% patients were HER2-low 1+ and 32% were HER2-low 2+. In the HER2-low group, 71% of tumours were hormone receptor (HR) positive, and in the HER2-zero group, 67% were triple negative (TN). Tumours in the HER2-low group were more often HR-positive, postmenopausal, and had lower Ki67, while tumours in the HER2-zero group were more frequently TN, grade 3, and node-positive. Immunotherapy use was lower in HER2-low patients. Overall pCR rates were 20% in HER2-low, and 32% in HER2-zero (p=0.14), and pCR rates were lower in HR-positive compared with HR-negative tumours (12% vs. 41%). Among HER2-zero tumours, pCR was significantly lower in HR-positive than in HR-negative (9% vs. 43%; p=0.005). In HER2-low HR-positive, pCR was also lower than in the HER2-low HR-negative (14% vs. 35%; p=0.085). Within HER2-low, 23% of HER2 1+ and 16% of HER2 2+ obtained pCR. Pathological nodal response was more frequent in HER2-zero tumours (70% vs. 39%, p=0.009). Treatment was generally well tolerated, with grade ≥3 haematological toxicity being the most frequent one, without differences between the two groups. This prospective real-world study suggests a trend toward lower pCR in HER2-low compared with HER2-zero tumours, although not statistically significant.The lower use of immunotherapy among HER2-low patients may have influenced these results and should be considered when interpreting comparative efficacy. The significantly reduced pCR in HR-positive compared with HR-negative disease within HER2-low tumours underscores the influence of HR status and highlights the need for careful pre-therapeutic stratification and larger, long-term studies.

Introduction: Malignant small bowel neoplasms are rare entities, and knowledge about them remains limited due to their histological diversity and the challenges associated with their investigation. However, their rising incidence has generated increasing clinical and research interest. This study aimed to describe the demographic and clinical characteristics of patients with malignant neoplasms of small bowel and the evolution in their diagnosis over 20 years in a tertiary center. Methods: Single-center retrospective study of data of patients with malignant small bowel neoplasms diagnosed between 2001 and 2020 in a tertiary hospital was performed. Statistical analysis was performed with SPSS version 29.0 (significance level ≤0.05). Results: Out of 135 patients included, 57% were male. Eighty-nine neoplasms (65.9%) were found in the jejunum/ileum. Adenocarcinomas were the most frequently diagnosed neoplasms (31.1%), followed by neuroendocrine tumors (28.1%). At the time of diagnosis, the majority of patients (80.7%) were symptomatic, with severe complications – including obstruction, hemorrhage, or perforation – occurring in 55.4% of cases. Diagnosis typically involved CT scan (40.7%) or upper digestive endoscopy (22.2%); notably, 22.2% patients still required surgery for diagnosis. Diagnoses were mainly made between 2011 and 2020 (65.9%). Between 2001 and 2010, the most common diagnosed tumors were adenocarcinomas (37.0%), whereas between 2011 and 2020, the most frequently diagnosed malignant neoplasms were neuroendocrine tumors (37.1%). The distribution of histological types differed significantly over the years (p = 0.016). Adenocarcinoma had a higher mortality rate (54.8%) compared to neuroendocrine tumors (7.9%). Discussion/Conclusion: Given the rarity of these tumors, the cohort of malignant small bowel neoplasms collected at this tertiary center over a 20-year period represents a substantial sample. More than half of patients were symptomatic at diagnosis, despite diagnostic advances over the years. In the last 10 years of the study, there has been an increase in incidence as well as in 5-year survival rates, possibly due to the higher incidence of neuroendocrine tumors and the lower incidence of adenocarcinomas. Notably, the diagnosis of each histological neoplasm type differed significantly statistically over the years, with neuroendocrine tumors being the most diagnosed in recent years.