Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia

We report the case of an adolescent with severe primary ciliary dyskinesia (PCD) phenotype associated with a rare genotype. His clinical condition deteriorated, with daily cough and breathlessness, hypoxemia, and lung function decline. Despite being started on home noninvasive ventilation (NIV), the symptoms progressed to dyspnea at rest and thoracic pain. High-flow nasal cannula (HFNC) was started during the daytime as an adjuvant to NIV, and he was started on regular oral opioids for pain and dyspnea control. There was a clear improvement in comfort and dyspnea and breathing work relief. Additionally, better exercise tolerance was also noted. He is currently on the lung transplant waiting list. We aim to emphasize the benefits of HFNC as an add-on therapy for the management of chronic breathlessness since our patient experienced an improvement in breathing and exercise tolerance. However, there is a paucity of studies regarding domiciliary HFNC, particularly in pediatric age. Therefore, further studies are needed to achieve optimal and personalized care. Close monitoring and frequent reassessment in a specialized center are key to adequate management.info:eu-repo/semantics/publishedVersio

A Gelatinous Pleural Effusion as a Diagnostic Clue

Pleural effusion is a common presentation of several pathologies, and the determination of its cause is facilitated by macroscopic, biochemical, microbiological, and cellular analysis. A systematic approach to analyzing the fluid allows for a reduction in clinical diagnoses. Only a select number of diagnoses can be established definitively by thoracentesis, including effusions because of malignancy. We report the case of an 84-year-old male with a right large-volume pleural effusion with an initial diagnostic thoracocentesis demonstrating an exudate with a gelatinous appearance and exudate characteristics. The physical characteristics of the pleural effusion quickly raised the suspicion of mesothelioma, a rare tumor associated with a poor prognosis. In most diseases related to pleural effusion, fluid analysis yields important diagnostic information, and in certain cases, fluid analysis alone is enough for diagnosis. Malignant pleural mesothelioma may present as a viscous pleural effusion with gelatinous characteristics, which may immediately raise suspicion and contribute as a diagnostic clue in the initial study of a pleural effusion. This article was previously presented as a meeting abstract at the 28º Congresso Nacional de Medicina Interna in October 2022.info:eu-repo/semantics/publishedVersio

Aortic Dissection With Cardiac Tamponade in Pregnancy: A Challenging Clinical Scenario

Aortic dissection is the acute aortic syndrome with the highest mortality, and pregnancy and arterial hypertension are known risk factors. Its association with the perinatal period is a particularly unique and potentially devastating clinical catastrophe which is why the approach to a pregnant woman in cardiorespiratory arrest (CRA) should be multidisciplinary and early, with extraction of the fetus ideally within five minutes after the arrest. We present the case of a 39-year-old pregnant woman, who presented with a cardiorespiratory arrest in the context of an aortic dissection with cardiac tamponade and the need for an urgent perimortem cesarean section. Increasing knowledge and understanding among healthcare professionals has the potential to aid in the early detection and effective treatment of this challenging medical issue.info:eu-repo/semantics/publishedVersio

Comparison of Light-Based Devices in the Treatment of Meibomian Gland Dysfunction

Purpose: To compare different light-based devices, namely, intense pulsed light (IPL) and IPL with low-level light therapy (LLLT), in the treatment of meibomian gland dysfunction (MGD). Methods: This was a prospective, observational study that included patients with MGD. Group 1 included 58 eyes treated with IPL (eye-light®, Espansione Marketing S.p.A., Bologna, Italy), followed by LLLT (my-mask®, Espansione Marketing S.p.A., Bologna, Italy); Group 2 included 60 eyes treated with IPL (E>Eye®, E-Swin, Houdan, France); and Group 3 included 58 eyes treated with IPL (Thermaeye Plus®, OptiMed, Sydney, Australia). The presence of symptoms (Ocular Surface Disease Index (OSDI)) and ocular surface changes were evaluated at baseline, three weeks, and six months after treatment. Results: At week three, there was an improvement in the OSDI in all groups (p<0.001), without differences among them (p=0.339). The lipid layer thickness (LLT) increased in Groups 1 and 2 (p<0.001), with a similar variation (p=0.144). Patients with superior OSDI and lower LLT at baseline had the greatest improvement in the respective parameters (p<0.001). The basal tear flow increased in Group 1 (p=0.012). Corneal staining (CS) significantly decreased in Groups 2 (p<0.001) and 3 (p<0.001). At six months, compared to three weeks, there was further improvement in the OSDI (p<0.001) and the LLT (p=0.007), in Group 1, and an increase in the presence of CS in Group 3 (p=0.011). Conclusion: IPL treatment led to a sustained decrease in patients' symptoms, even after six months. Different IPL devices seem to have different beneficial effects. Adding LLLT to IPL appears to have an additional long-term beneficial effect as well as positive effects on the lacrimal gland.info:eu-repo/semantics/publishedVersio

HER2 Status in RAS and BRAF Wild-Type Metastatic Colorectal Cancer: A Portuguese Study

Introduction: Colorectal cancer (CRC) is the second-most deadly cancer worldwide. However, there remains a scarcity of precision treatments available for this type of cancer. Amplification or overexpression of human epidermal growth factor receptor 2 (HER2+) is a well-established therapeutic target in gastric and breast cancer. HER2 is positive in approximately 5% of CRC cases and has been implicated in resistance to therapy with anti-epidermal growth factor receptor antibodies. The aim of this study was to evaluate HER2 status in RAS and BRAF wild-type metastatic CRC (mCRC) and its correlation with survival outcomes. Materials and methods: A single-center retrospective analysis of RAS and BRAF wild-type mCRC patients undergoing systemic treatment was conducted from July 2014 to September 2020. Tissue HER2 status was determined by immunohistochemistry (IHC) and/or fluorescence in situ hybridization (FISH) and/or chromogenic in situ hybridization (CISH). HER2+ was defined as IHC3 (+) or IHC2 (+) through FISH or CISH (+). Results: Fifty-nine patients were included. The median age of all the included patients was 64 years (33-82). Four patients had HER2+ tumors (7%). Four patients had HER2+ tumors (7%). The majority of HER2+ mCRC cases were males (n=3) and left-sided CRC (n=3). All patients received FOLFIRI plus cetuximab as first-line treatment. At the median follow-up of 24.0 months, patients with HER2-negative mCRC presented with a median overall survival (mOS) of 39.4 months (95% confidence interval (CI) 32.7-46.0) and the four patients with HER2+ mCRC had a mOS of 20.4 months (95% CI; 9.5-31.3; p=0.07). In HER2-negative patients, the median PFS (mPFS) was 11.3 months (95% CI; 9.2-13.4) vsHER2-positive patients with a mPFS of 10.9 months (95% CI; 1.3-20.4; p=0.47). Conclusions: To our knowledge, this is the first study reporting HER2+ in mCRC patients in a Portuguese population and the HER2+ rate was consistent with previous studies. Our study suggests that HER2+ may potentially be a marker that is able to predict poor prognosis in RAS and BRAF wild-type mCRC.info:eu-repo/semantics/publishedVersio

Mycobacterium szulgai Pulmonary Infection in an Immunocompromised Patient

Mycobacterium szulgai is a slow-growing nontuberculous mycobacterium (NTM). It was first described in 1972 and is responsible for less than 0.2% of all NTM infections. The most common presentation resembles pulmonary tuberculosis, but it may also present as an extrapulmonary disease. It primarily affects individuals with underlying lung disease or immunocompromising conditions. The increasing use of tumor necrosis factor-alpha inhibitors, such as adalimumab, is associated with an increased risk of serious infections. We report a case of Mycobacterium szulgai infection in a 23-year-old woman with a history of childhood pneumonia and Crohn's disease on adalimumab.info:eu-repo/semantics/publishedVersio

The potential of a multimodal digital care program in addressing healthcare inequities in musculoskeletal pain management

Digital interventions have emerged as a solution for time and geographical barriers, however, their potential to target other social determinants of health is largely unexplored. In this post-hoc analysis, we report the impact of social deprivation on engagement and clinical outcomes after a completely remote multimodal musculoskeletal (MSK) digital care program managed by a culturally-sensitive clinical team. Patients were stratified in five categories according to their social deprivation index, and cross-referenced with their race/ethnicity, rurality and distance to healthcare facilities. From a total of 12,062 patients from all U.S. states, 8569 completed the program. Higher social deprivation was associated with greater baseline disease burden. We observed that all categories reported pain improvements (ranging from -2.0 95%CI -2.1, -1.9 to -2.1 95%CI -2.3, -1.9, p < 0.001) without intergroup differences in mean changes or responder rates (from 59.9% (420/701) to 66.6% (780/1172), p = 0.067), alongside reduction in analgesic consumption. We observed significant improvements in mental health and productivity across all categories, with productivity and non-work-related functional recovery being greater within the most deprived group. Engagement was high but varied slightly across categories. Together these findings highlight the importance of a patient-centered digital care program as a tool to address health inequities in musculoskeletal pain management. The idea of investigating social deprivation within a digital program provides a foundation for future work in this field to identify areas of improvement.info:eu-repo/semantics/publishedVersio

Six-Year Complete Remission of Type-1 Diabetes Mellitus in an Adult Treated With Sitagliptin

A "honeymoon" phase is a transient period of type 1 diabetes (T1D) remission, characterized by a significant reduction in insulin requirements and good glycemic control due to a temporary restoration of pancreatic β-cell function. This phenomenon occurs in about 60% of adults with this disease, is usually partial, and lasts for up to 1 year. We present a case of a 6-year complete remission of T1D in a 33-year-old man, the longest remission ever described in the literature to our knowledge. He was referred for presenting a 6-month history of polydipsia, polyuria, and weight loss of 5 kg. Laboratory studies confirmed the diagnosis of T1D (fasting blood glucose of 270 mg/dL; HbA1c of 10.6%, and positive antiglutamic acid decarboxylase), and the patient started intensive insulin therapy. After 3 months, a complete remission of the disease was assumed, he suspended insulin administration and since then, he has been under treatment with sitagliptin 100 mg daily, a low-carbohydrate diet, and regular aerobic physical activity. This work aims to highlight the potential role of these factors in delaying disease progression and preserving pancreatic β-cells when introduced at the time of presentation. More robust, prospective, and randomized studies will be needed to confirm its protective effect on the natural course of the disease and support its indication in adults with newly diagnosed T1D.info:eu-repo/semantics/publishedVersio

Application of the New “Points in Range” Metrics in the Assessment of In-Hospital Glycemic Control

Introduction Capillary blood glucose (CBG) monitoring remains the most used testing form in hospitals and allows for "points in range (PIR)" metric calculation. This study was conceived to evaluate the metabolic control in patients with diabetes mellitus (DM) at a hospital through PIR metrics. Methods This was an observational cross-sectional study conducted on October 9, 2020, that included non-critical adults admitted to Centro Hospitalar Universitário do Porto (except pregnant/postpartum women) with DM under CBG monitoring and a minimum of 24 hours of hospitalization. Glycemic control was evaluated by previous day CBG monitoring. Results The study sample consisted of 110 patients with DM (93.6% type 2) with a median number of CBG tests of 4.00 (1.00) and a median CBG of 166.20 (69.41) mg/dL, SD 41.93 ± 27.20 mg/dL, and variation coefficient of 22.56 ± 12.51%. Points below range were 0.5%, with 0% below 54 mg/dL. The points in ranges 70-140 mg/dL and 140-180 mg/dL were 32.8% and 22.0%, respectively, and the total number of patients with all points in range 70-180 mg/dL was 19 (17.3%), with only 3 (2.7%) having all points in range 140-180 mg/dL and 10 (9.1%) in range 70-140 mg/dL. Regarding points above range (PAR), 29.9% and 14.8% points were at levels 1 and 2 hyperglycemia, respectively, and 15 (13.6%) patients had all points above 180 mg/dL. Correlations were identified between PAR and the total number of CBG assessments (ρ = 0.689, p < 0.001). Conclusion We conclude that in-hospital glycemic control remains suboptimal: only few have adequate control according to the PIR metrics despite low glycemic variability. PIR metrics are a new, valuable, simple and valid way to take better advantage of CBG monitoring at no added cost.info:eu-repo/semantics/publishedVersio

When the Conception of Symmetry Deceives Us: A Case Report on the Perioperative Diagnosis of Subclavian Artery Stenosis

Subclavian artery stenosis is a relatively uncommon manifestation of peripheral artery disease with significant morbidity. We describe a case of left subclavian artery stenosis that became apparent in the intraoperative setting, in a patient who presented for emergency surgery after a fall and subsequent left femoral neck fracture. Initial non-invasive blood pressure readings on the left upper extremity were in the normal range but after placement of the arterial line on the right upper extremity, the discrepancy was evident pointing towards a structural abnormality as the causative factor. CT angiography was found to confirm the diagnosis of left subclavian artery stenosis of an atherosclerotic nature. A thorough physical examination can point to the presence of subclavian stenosis through pulse amplitude and blood pressure asymmetries. This study highlights the importance of obtaining blood pressure readings ideally on all four limbs to avoid misinterpretation of blood pressure values that could ultimately lead to the use of unnecessary and inadequate interventions and possible complications in the perioperative setting.info:eu-repo/semantics/publishedVersio