Acta medica portuguesa最新文献

Introduction: Medical assistance provided in Portugal to patients from Portuguese-Speaking African Countries (PALOP) is regulated by political evacuation protocols, although many patients come by their own means (OM). The aim of this study was to characterize PALOP patients admitted to a Portuguese early childhood medical unit (ECMU), comparing those evacuated under official protocols with those who arrived by OM, and reflect on their medical complexity and associated challenges.

Methods: We conducted an observational study, with a retrospective chart review of all PALOP patients (<18 years old) admitted to an ECMU of a tertiary hospital in Lisbon, Portugal, between January 2018 and December 2022. Demographic and clinical data were extracted from patients' medical records. Patients were grouped into evacuated patients (EP) and OM patients.

Results: A total of 71 patients were included, with 76.1% in the EP group and 23.9% in the OM group. Admissions increased throughout the study period, peaking in 2022. Most patients were male (62%), with a median age of 16 months. Own means patients were significantly older than EP patients (31 months vs 16 months, p = 0.026). Most EP patients originated from São Tomé and Príncipe and Cape Verde, whereas most OM patients came from Angola. The EP group had a higher prevalence of surgical, cardiac, and neurosurgical conditions, whereas the OM group showed a predominance of neurological and hematological diagnoses. Surgical intervention was required in 74.6% of cases, more frequent in EP patients (p = 0.008). Follow-up appointments were necessary for 95.8% of patients and 84.5% required social services support. The mortality rate was 84.5/1000, higher in the OM group (117.6/1000). Only 9.9% of patients returned to their country of origin.

Conclusion: Admissions of children from PALOP had an upward trend from 2018 to 2022, with most patients presenting complex comorbidities in both groups, and requiring highly specialized healthcare resources, prolonged hospitalizations, and readmissions. Mortality rate was considerable, and only a few returned to their country. These findings emphasize the need for improved coordination between countries to provide sustainable healthcare from both patient/families and healthcare system perspectives.

Paroxysmal sympathetic hyperactivity is a neurological syndrome characterized by sudden episodes of sympathetic overactivity often triggered by non-noxious stimuli. First described by Wilder Penfield in 1929, it commonly follows severe brain injury and is associated with diffuse lesions involving diencephalic and brainstem structures. Its pathophysiology is not completely understood, but it is believed to result from an imbalance between excitatory and inhibitory pathways within the central nervous system. Diagnosis is clinical, based on exclusion of alternative causes and supported by the Paroxysmal Sympathetic Hyperactivity Assessment Measure. Management includes both pharmacological and non-pharmacological strategies. Despite growing recognition, clinical approaches remain heterogeneous. Further research is needed to clarify mechanisms and develop standardized, evidence-based diagnostic and treatment guidelines to improve outcomes.

Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathogenic variants in the RMRP gene. The clinical presentation is highly variable and may include short-limbed short stature, metaphyseal abnormalities, hypotrichosis, and immune deficiency, among other features. Some of the manifestations may present early in the prenatal period and ultrasound assessment is often the tool that raises suspicion for this condition. This review aims to summarize the current knowledge regarding the prenatal diagnosis of cartilage-hair hypoplasia, focusing on its molecular basis and the role of imaging and genetic testing. A comprehensive literature search was conducted in the PubMed/MEDLINE database using the terms 'Prenatal diagnosis', 'Cartilage-hair hypoplasia', 'Skeletal dysplasias', 'Osteochondrodysplasias' and 'RMRP mutation'. Prenatal diagnosis of this condition remains challenging, as ultrasound findings may overlap with other skeletal dysplasias, including lethal forms. Lethality predictors and the potential of molecular testing are also explored. A structured prenatal approach, combined with timely genetic counselling, may allow for an earlier diagnosis and support informed reproductive decisions. Given the recent advances in reproductive technologies and the potential impact of cartilage-hair hypoplasia on affected individuals, this condition should be actively considered in future studies addressing the prenatal diagnosis of skeletal dysplasias.

Venous thromboembolism is a common complication in cancer patients, particularly in advanced stages, where the presence of metastatic disease can increase the risk of thrombosis by approximately 20 times compared to early stages, with this risk being even higher in end-of-life patients. Despite its high prevalence, there are significant gaps in the evidence guiding venous thromboembolism management during this phase of illness. It presents a therapeutic challenge due to the high rates of thrombotic recurrence and hemorrhagic complications. Additionally, diagnosis is complicated by the nonspecific nature of symptoms and the need to avoid invasive or burdensome diagnostic tests that may compromise patient comfort. This manuscript, developed in collaboration between the Portuguese Study Group on Cancer and Thrombosis and the Portuguese Association for Palliative Care, reviews the main clinical and ethical challenges associated with the diagnosis, treatment, and prevention of venous thromboembolism in this specific population, aiming to support medical decision-making in often complex scenarios. The recommendations presented are based on the best available evidence, supplemented by the clinical experience of the authors and an ethical reflection focused on the patient. Criteria are provided to guide i) decisions on initiating, continuing or discontinuing anticoagulation; ii) the role of imaging in this context; iii) the indications for thromboprophylaxis. This synthesis aims to promote a more informed and consistent practice, with a focus on patient quality of life and dignity, while enhancing care quality and encouraging the application of these principles across different healthcare settings.

25-hydroxyvitamin D is the best biomarker of vitamin D biological activity, and its serum level has been used in studies assessing vitamin D sufficiency. However, the definitions of vitamin D deficiency and insufficiency remain non-consensual. The cutoff point for serum 25-hydroxyvitamin D levels used to define vitamin D sufficiency typically ranges between 50 and 75 nmol/L. Serum levels below 30 nmol/L, indicative of severe vitamin D deficiency, may have potentially adverse effects on skeletal and overall health. Hypovitaminosis D is highly prevalent worldwide, including across Europe. Several cross-sectional studies using random or convenience sampling, conducted at national or local levels, have documented a high prevalence of hypovitaminosis D, including severe cases, in Portugal. These studies were summarized in a narrative review, confirming the magnitude of this public health problem. The causes of hypovitaminosis D include low dietary intake or malabsorption of vitamin D, as well as inadequate sun exposure and insufficient endogenous synthesis, which are influenced by multiple factors. Several strategies have been proposed to address this significant public health issue, including adopting a healthier lifestyle with increased outdoor physical activity, controlling excess weight and obesity, and consuming foods naturally rich in vitamin D. However, given the high prevalence of sedentary lifestyles and obesity in Portugal, combined with inadequate dietary intake of vitamin D, these measures alone may be insufficient. Vitamin D supplementation and food fortification are two additional strategies for correcting hypovitaminosis D. Supplementation targeted at individuals at risk or with confirmed deficiency has not proven effective in significantly reducing the prevalence of severe deficiency in the Portuguese population. Food fortification, whether mandatory or voluntary, may represent a complementary and potentially more effective approach than individualized supplementation in populations with a high prevalence of severe hypovitaminosis D, as is the case in Portugal.

Older persons are more susceptible to infections and have a higher risk of serious complications, with a worse functional and vital prognosis. Vaccination is an effective strategy with a favorable safety profile for preventing infections and promoting healthy aging. In view of the clinical evidence and the vaccines available in Portugal in the first half of 2025, the Geriatrics Study Group of the Portuguese Society of Internal Medicine presents a proposal for vaccination of adults aged 65 years or older. The experts also point out the need to create a national lifelong vaccination program that includes older people to increase vaccination coverage and reduce the impact of infections in this population. Although the document focuses on people aged 65 years or older, vaccination against some diseases should start earlier. This article outlines five main recommendations: 1) Annual influenza and COVID-19 vaccination for all adults aged 50 years or older, with those aged 65 years or older receiving the high-dose trivalent influenza vaccine; 2) Respiratory syncytial virus vaccination for all adults aged 60 years or older and adults aged 18 - 59 years with risk factors, prioritizing people aged 75 years or older and those aged 50 years or older with risk factors; 3) Pneumococcal vaccination with the 20-valent or 21-valent pneumococcal conjugate vaccine for all adults aged 50 years or older and adults aged 18 - 49 years with risk factors; 4) Herpes zoster vaccination with the recombinant vaccine for all adults aged 50 years or older and adults aged 18 - 49 years at high risk of herpes zoster; 5) From the age of 65 years, booster vaccination against tetanus, diphtheria and pertussis every 10 years.

Morbidity and mortality meetings were originally conceived as structured forums to improve surgical outcomes through reflective practice. Over time, they became institutionalized globally. However, in Portugal, no published evidence was found describing structured standards for morbidity and mortality meetings; available observations suggest that practices remain fragmented, unstandardized, and weakly integrated into clinical governance. The aim of this review to critically appraise the current model of morbidity and mortality meetings in Portuguese surgical departments and propose evidence-based reforms, drawing on successful international frameworks. This is a narrative review synthesizing historical developments, national regulations, and international models - such as the United Kingdom's National Confidential Enquiry into Patient Outcome and Death, the National Surgical Quality Improvement Program, and Australian and New Zealand Audit of Surgical Mortality. This work highlights gaps in the Portuguese context and proposes a multidimensional reform strategy. Despite legal references to morbidity and mortality in Portuguese regulations, there is no unified national guidance on case selection, meeting governance, or implementation of corrective actions. Cultural barriers such as blame avoidance and hierarchical dynamics limit psychological safety and learning. In contrast, international programs offer structured, audited, and data-driven approaches that promote accountability, transparency, and system-wide improvement. Based on these findings, the review recommends national guidelines, risk-adjusted benchmarking, multidisciplinary involvement, protected meeting time, and formal follow-up systems. Additional proposals include autopsy integration, shared morbidity and mortality across institutions, and public reporting. Morbidity and mortality meetings in Portugal must evolve from symbolic practices into powerful tools for patient safety, institutional accountability, and continuous learning. This requires regulatory leadership, cultural change, and structural reform aligned with international standards.

Introduction: Orofacial clefts are common congenital malformations that may occur in isolation or as part of a syndrome. Early prenatal diagnosis provides crucial information for parental counseling, delivery planning, and multidisciplinary neonatal care. This study aimed to review orofacial cleft cases diagnosed during the prenatal period and to assess the relationship between cleft type, associated anomalies, genetic findings and pregnancy outcomes.

Methods: This retrospective study included all fetuses with a prenatal diagnosis of cleft lip and/or cleft palate who received obstetric care at the Unidade Local de Saúde São João between January 2014 and December 2023. Data collected included baseline maternal characteristics, fetal sex, gestational age at diagnosis, associated anomalies, genetic and pathological evaluation and pregnancy outcomes.

Results: Forty-eight fetuses were included. Prenatal diagnosis was most often made in the second trimester (77.1%), while all first-trimester diagnoses were associated with additional anomalies. Overall, 20 fetuses (41.7%) had syndromic or non-isolated clefts, accounting for all chromosomal and genetic abnormalities. In isolated cases (58.3%), genetic testing consistently yielded normal results, with only two of them receiving a genetic diagnosis postnatally. Eighteen pregnancies were terminated, mostly in cases with associated anomalies.

Conclusion: In this single-center retrospective case series, chromosomal and genetic abnormalities were only detected in fetuses with syndromic clefts or additional anomalies. Among isolated cases, genetic testing was uniformly normal. These results reinforce that prenatal genetic testing may be most valuable when syndromic features or a strong family history are present, rather than as a routine in isolated clefts. Further multicenter studies are needed to support this approach and define standardized protocols.

Parvovirus B19 (PvB19), the etiological agent of erythema infectiosum, can manifest in diverse clinical forms. This study underscores the virus's capacity to mimic other diseases, as illustrated by the diagnostic challenges encountered across five cases. The first three cases correspond to an overlap of papulo-purpuric gloves and socks syndrome with petechial exanthema with periflexural and periorificial distribution, the first initially diagnosed as a drug eruption, the second as scarlet fever, and the third as autoimmune thrombocytopenia. The remaining two cases correspond to leukocytoclastic vasculitis that, only after thorough investigation, were associated with Parvovirus B19 infection. This case series emphasizes the need for healthcare professionals to be alert to this important imitator and be mindful of this differential diagnosis when approaching exanthemas and vasculitis.