Centro Hospitalar de Trás os Montes e Alto Douro

<bold>Introduction:</bold> Adherence is a main factor to Positive Airway Pressure (PAP) effectiveness. <bold>Methods:</bold> Multicentre randomised (1:0) controlled trial comparing a personalised support plan based on patient needs (VitalCare) vs usual follow-up by the homecare provider in patients with OSA starting PAP in Portugal. Also, a health economic model relying on the established relationship between PAP use and effectiveness was developed. <bold>Results:</bold> 107 patients were analysed (65 Males; 57years; AHI:30.4; ESS:9.9). The primary endpoint was not statistically significant (mean PAP use at 3 months) although a trend in favour of VitalCare was observed for all adherence outcomes. The rate of adherent patients was statistically higher with VitalCare at 6 and 12 months (Table 1). The health economic model estimates clinical events and costs avoided for the 6,500 patients currently followed by VitalCare in Portugal (Table 2). <bold>Conclusion:</bold> Personalised support plans delivered by VitalAire homecare provider in Portugal improve PAP use. This could represent a health benefit and substantial savings. <table-wrap><object-id>erj;66/suppl_69/PA5631/TB1</object-id><object-id>T1</object-id><object-id>TB1</object-id><caption> <bold>Table 1: Adherence outcomes</bold> </caption><table><colgroup><col></col><col></col><col></col><col></col></colgroup><tbody><tr><td></td><td> <bold>VitalCare</bold> n=56 </td><td> <bold>Standard care</bold> <bold>n=51</bold> </td><td>p-value</td></tr><tr><td> <bold>Mean(sd) daily number of hours of PAP use</bold> 3 months, primary endpoint 6 months 12 months </td><td> 4.61(2.24) 4.63(2.18) 4.55(2.14) </td><td> 3.85(2.62) 3.86(2.68) 3.86(2.69) </td><td> 0.059 0.042 0.075 </td></tr><tr><td> <bold>Adherent patients</bold> (≥4h/day), n(%) 3 months 6 months 12 months </td><td> 35(62.5) 36(64.3) 39(69.6) </td><td> 25(50.0) 23(45.1) 25(49.0) </td><td> 0.195 0.046 0.030 </td></tr></tbody></table></table-wrap> <table-wrap><object-id>erj;66/suppl_69/PA5631/TB2</object-id><object-id>T2</object-id><object-id>TB2</object-id><caption> <bold>Table 2: Yearly estimated health economic impact</bold> </caption><table><colgroup><col></col><col></col><col></col></colgroup><tbody><tr><td></td><td>n=6,500</td><td>Per patient</td></tr><tr><td><bold>Direct costs</bold></td><td>-1.7 M€</td><td> <bold>Clinical events avoided:</bold> -98 new diagnoses of cancer -398 cardiovascular events -139 road traffic accidents -7 occupational accidents </td><td>-255€</td></tr><tr><td><bold>Indirect costs</bold></td><td>-1.4 M€</td><td>-16,597 workdays missed</td><td>-220€</td></tr></tbody></table></table-wrap>

SummaryX-linked hypophosphatemic (XLH) is the most common inherited form of rickets, caused by inactivating mutations in the PHEX gene. Resultant overproduction of fibroblast growth factor 23 (FGF23) leads to renal phosphate wasting, reduced 1,25-dihydroxyvitamin D (1,25(OH)2D) levels, and impaired bone mineralization. We describe 26-year-old male monozygotic twins with lifelong skeletal deformities, short stature, and chronic bone pain. Despite hallmark features of rickets, both were misdiagnosed for decades and developed progressive functional impairment. Biochemical investigations revealed persistent hypophosphatemia, elevated alkaline phosphatase, reduced tubular maximum reabsorption of phosphate per glomerular filtration rate (TmP/GFR), normal calcium and parathyroid hormone, and inappropriately normal 1,25(OH)2D. Radiographs showed pseudofractures, consistent with osteomalacia. The twins were born from a triplet pregnancy; their dizygotic female sibling remained asymptomatic and biochemically normal. Genetic analysis revealed a novel de novo hemizygous deletion in exon 22 of PHEX, confirming the diagnosis of XLH. Both patients initiated conventional therapy with oral phosphate and calcitriol, resulting in notable clinical improvement, including restored ambulation and reduced pain. To our knowledge, this is the first documented case of phenotypically concordant XLH in monozygotic twins caused by a previously unreported PHEX mutation. The presentation underscores the risk of diagnostic delays in XLH, particularly in sporadic cases without family history, and highlights the value of early molecular testing in complex skeletal disorders. Timely recognition and treatment of XLH are essential to prevent irreversible complications and improve long-term outcomes, even when initiated in adulthood.Learning pointsXLH should be considered in patients with skeletal deformities, short stature, and recurrent dental abscesses.Diagnosis is frequently delayed due to variable phenotype and misdiagnosis as nutritional rickets or isolated orthopedic conditions.Biochemical findings of isolated hypophosphatemia with inappropriately normal 1,25(OH)2D levels should prompt evaluation for FGF23-mediated phosphate-wasting conditions.In cases without family history, genetic testing remains essential to confirm XLH and may reveal de novo mutations with clinical and research relevance.Conventional therapy with phosphate and calcitriol may lead to meaningful clinical improvement, including restored mobility, even in adults with long-standing disease.This case contributes to the understanding of genotype–phenotype relationships in XLH, highlighting the potential value of twin studies in elucidating the genetic and non-genetic modifiers of disease expression.

The BRCA2 c.156_157insAlu variant is a Portuguese founder mutation implicated in hereditary breast and ovarian cancer (HBOC). This study aims to determine its occurrence and clinical implications in the northern interior region of Portugal. A retrospective study of 571 individuals referred for HBOC genetic counseling and testing between 2021 and 2024 was conducted. Genetic screening was performed using next-generation sequencing of 27 hereditary cancer genes, with confirmatory PCR for BRCA2 c.156_157insAlu. Pathogenic or likely pathogenic variants were detected in 19.8% of participants, with BRCA1/2 variants accounting for 5.4%. The BRCA2 c.156_157insAlu variant was identified in 6 individuals (25% of all BRCA2 pathogenic variants identified), including breast cancer patients and asymptomatic carriers. Clinically, it was associated with early onset and contralateral breast cancer. Cascade testing and genetic counseling were offered to at-risk relatives. The BRCA2 c.156_157insAlu variant remains a significant contributor to HBOC in northern Portugal. Its high local proportion among BRCA2 variants supports the implementation of targeted genetic testing strategies, enhancing early detection and personalized cancer risk management.

PV050 / #831Poster Topic:AS06 - ComorbiditiesBackground/PurposePrevious studies have reported a higher prevalence of stress, anxiety, and depression in individuals with Systemic Lupus Erythematosus (SLE). However, no literature establishes a relationship between coping strategies and disease activity, severity, and cumulative damage in SLE.MethodsAdult patients diagnosed with SLE were recruited during routine appointments and completed validated Portuguese translations of the BRIEF-COPE scale (assessing coping strategies for stressful events), the Perceived Stress Scale (PSS-10), the Hospital Anxiety and Depression Scale (HADS), and the Short-form Health Survey (SF-36v2). Clinical and laboratory disease features, as well as prior anxiety or depression diagnoses, were obtained from electronic medical records. Flares were defined according to the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) for the year preceding recruitment. Disease severity was assessed using the Lupus Severity Index (LSI): being 0 no severity and 10 the higher severity possible. Damage accrual was evaluated by the SLICC Damage Index (SDI).ResultsA total of 27 adults diagnosed with SLE were recruited. All participants met the ACR classification criteria, were in active follow-up, and had a mean LSI of 6.71 ± 1.69. Five (18.5%) experienced a flare in the previous year, and 10 (37.5%) presented cumulative damage. Analysis of global indicators from the BRIEF-COPE scale revealed that participants scored at the general population average for both problem-focused coping strategies and emotion-focused strategies, and below average for avoidance strategies. Their quality of life was lower than the general population average, both physically and mentally. Most participants with damage accrual exhibited adaptive coping strategies, particularly problem-focused (62.5% ± 16.03) and emotion-focused (63.5% ± 20.04) approaches. Among participants without a flare in the previous year, 35% engaged in avoidance strategies vs 19% of those who experienced a flare. Avoidance coping was inversely related to overall severity of SLE by LSI.ConclusionsThis is the first study using the BRIEF-COPE scale in adults with SLE to examine the relationship between coping strategies, disease activity, overall severity, and cumulative damage. Individuals living with SLE appear to exhibit above-average adaptive coping strategies, particularly those with damage accrual. Furthermore, our findings suggest that higher disease severity is associated with a lower adoption of maladaptive coping strategies.

Abstract Background Stanford Type A Acute Aortic Dissection (AAD) is the most common life-threatening disorder affecting the aorta and is associated with a high rate of in-hospital mortality, even in patients that are surgically treated. Early recognition of patients that are at increased risk of mortality is important to guide clinicians for optimal treatment. Methods We performed a retrospective analysis of patients admitted with type A AAD in our centre in the last 10 years to determine the predictors of in-hospital mortality in this population. Association between patient characteristics and in-hospital mortality was evaluated. Results A total of 75 patients with acute aortic syndrome were selected and 49 (65.3%) patients with Stanford type A AAD were identified. Among these patients, 59.2% were male, with a mean age of 64±13 years. Hypertension was the most prevalent risk factor (62.5%), followed by dyslipidemia (31.3%), obesity (25%), smoking (14.6%) and previous cardiovascular disease (8.3%). At admission, the most prevalent symptoms were chest pain (64.6%), abdominal pain (22.9%) and syncope (22.9%). 33.3% of patients presented with shock, 28.6% had ischemic ECG changes and 58.3% had pericardial effusion. Median aortic diameter was 51.0mm (IQR 47-58) and the dissection extended to the abdominal aorta in 49.6% of patients and to the supra-aortic trunks in 8.2%. 70.8% of patients underwent emergent cardiothoracic surgery, 4 patients died before surgery and 8 were not eligible due to multiple comorbidities. Total in-hospital mortality was 39.6%, with a median length of hospital stay of 9 days (IQR 2-19). Among patients that were treated surgically, 18.2% died before discharge. In a multivariate regression analysis, independent predictors of in-hospital mortality were age (OR 1.122, 95%CI 1.003-1.255) and shock at admission (OR 25.914, 95%CI 1.324-507.391). Non-fatal cardiac arrest was also associated with higher mortality (p&amp;lt;0.001). There were no other significant differences in in-hospital mortality regarding risk factors, clinical presentation and aortic characteristics. Conclusions In our study, total in-hospital mortality in patients with type A AAD was 39.6%. Even in patients submitted to emergent cardiothoracic surgery, in-hospital mortality rate was 18.2%. In this group of patients, age and shock at admission were independent predictors of in-hospital mortality.

Exit-site infections (ESIs) of peritoneal dialysis catheters can cause serious complications if not promptly treated.Uncommon pathogens like Actinomyces odontolyticus are infrequently associated with these infections.We report a 26-year-old woman with end-stage renal disease due to Alport syndrome, presenting with recurrent purulent discharge and erythema at the Tenckhoff catheter exit site. Initial cultures were negative, and empirical treatment with cotrimoxazole was provided with an apparent resolution of the infection. Upon recurrence, A. odontolyticus was identified in an anaerobic culture, showing resistance to multiple antibiotics, including penicillin. Treatment with doxycycline resolved the infection within four weeks without requiring catheter removal. No recurrence was observed after six months.This case highlights the importance of early diagnosis and tailored antibiotic therapy in managing rare infections. It emphasizes the need for collaboration with microbiology labs to ensure proper identification of atypical pathogens. Early intervention and targeted treatment can lead to excellent outcomes, potentially avoiding catheter removal.