A new intervention to prevent social isolation in people with complex communication needs.

While implementing communication interventions, practitioners follow diverse theoretical models. Different conceptual orientations influence the way professionals embrace the subject of communication and its disorders. This research project explores the co-creation and validation of a new model and intervention program to analyze and improve communication between persons with Complex Communication Needs and their caregivers. The methodology incorporated a comprehensive narrative review, as foundation for the new model and intervention proposal. Succeeding this stage, the team implemented an online Delphi Panel to improve and validate these results, involving 17 international renowned experts. Following the Appropriateness Method, 25 indications were subject to scrutiny and rated as appropriate with minimal values of disagreement among the evaluators. Qualitative feedback was used to improve the research products. Quality assurance measures were taken to ensure quality and transparency of the results. A new conceptual framework of atypical interpersonal communication and intervention program result from the investigation. The new model is inspired by the Transactional model and principles of Dialogism. The intervention consists of consultations with caregivers, using video analysis and a dialogical methodology to enhance communication. The next research phase is to pilot-test the intervention program with clinicians supporting persons with disability at risk of social isolation.

Meralgia Paresthetica: A Report of a Rare Case.

Meralgia paresthetica (MP) is a painful condition caused by damage or constriction of the lateral femoral cutaneous nerve (LFCN). This entrapment condition typically arises due to various factors, including trauma, pelvic tumors, external compression from belts or snug attire, and weight gain. The prognosis is generally favorable since most cases are self-limiting or respond to conservative treatment. We present the case of a 53-year-old overweight man, with no relevant medical history, who was a victim of a traffic accident in October 2023 which resulted in polytrauma, according to the Case Reports (CARE) checklist. The main complaint of the patient was tingling of the left thigh, with dysesthesia to gentle rubbing along the anterolateral surface. After a diagnostic study, a diagnosis of post-trauma MP was thus established, probably due to seat-belt compression of the LFCN, and physiatric treatment was initiated. With the assistance of ultrasound, a large hematoma was seen, above the inguinal ligament with drainage of 140ccc of serosanguineous fluid with resolution of the symptoms. This case emphasizes the importance of a physiatry consultation for a correct diagnosis and focuses on the main complaint of a polytrauma patient.

Insights from multi-omic modeling of neurodegeneration in xeroderma pigmentosum using an induced pluripotent stem cell system.

Xeroderma pigmentosum (XP) is caused by defective nucleotide excision repair of DNA damage. This results in hypersensitivity to ultraviolet light and increased skin cancer risk, as sunlight-induced photoproducts remain unrepaired. However, many XP patients also display early-onset neurodegeneration, which leads to premature death. The mechanism of neurodegeneration is unknown. Here, we investigate XP neurodegeneration using pluripotent stem cells derived from XP patients and healthy relatives, performing functional multi-omics on samples during neuronal differentiation. We show substantially increased levels of 5',8-cyclopurine and 8-oxopurine in XP neuronal DNA secondary to marked oxidative stress. Furthermore, we find that the endoplasmic reticulum stress response is upregulated and reversal of the mutant genotype is associated with phenotypic rescue. Critically, XP neurons exhibit inappropriate downregulation of the protein clearance ubiquitin-proteasome system (UPS). Chemical enhancement of UPS activity in XP neuronal models improves phenotypes, albeit inadequately. Although more work is required, this study presents insights with intervention potential.

Highlights from the 2023 International Meeting on the Molecular Biology of Hepatitis B virus.

Since its discovery in 1965, our understanding of the hepatitis B virus (HBV) replication cycle and host immune responses has increased markedly. In contrast, our knowledge of the molecular biology of hepatitis delta virus (HDV), which is associated with more severe liver disease, is less well understood. Despite the progress made, critical gaps remain in our knowledge of HBV and HDV replication and the mechanisms underlying viral persistence and evasion of host immunity. The International HBV Meeting is the leading annual scientific meeting for presenting the latest advances in HBV and HDV molecular virology, immunology, and epidemiology. In 2023, the annual scientific meeting was held in Kobe, Japan and this review summarises some of the advances presented at the Meeting and lists gaps in our knowledge that may facilitate the development of new therapies.

Endoparasitic helminth fauna and diet of Geophagus sveni (Pisces) in Upper Paraná River basin.

In freshwater ecosystems, parasite infection patterns are influenced by factors including spatial-temporal variations, host diet, and habitat. Fish often change diets, affecting their parasite communities. This study focused on non-native host fish Geophagus sveni, aiming to characterize diet and endoparasitic helminth fauna patterns in the invaded area, investigating spatial and seasonal possible differences of endoparasite infections and correlating with host diet, in São José dos Dourados River and Tietê River areas. The host fish were collected in these areas during the dry and rainy season using gillnets. The endoparasites were collected and preserved in alcohol and identified using taxonomic methods, and stomach contents were examined for diet analysis. Parasitism descriptors were calculated and evaluated spatially and seasonally by ANOVA and the Kruskal-Wallis tests. PERMANOVA assessed G. sveni diet differences, and RDA correlated the endohelminth abundance with the host diet. Two endoparasites were recorded: metacercariae of Austrodiplostomum compactum (Trematoda) and larvae and adults of Raphidascaris (Sprentascaris) lanfrediae (Nematoda). Spatial differences were observed for the mean abundance and prevalence of R. (S.) lanfrediae and A. compactum prevalence. Seasonal variations of parasitic descriptors occurred for the nematode in the Tietê River area. The detritus and aquatic insects were the most consumed items by G. sveni. Detritus consumption positively correlates with nematode abundance. The findings indicate that factors such as artificial channels and rainfall, which can influence resource availability, may affect the fish's diet and potentially influence the structure of its endoparasite community. The study emphasizes the importance of understanding trophic chain-transmitted parasites and calls for further research in Neotropical environments.

Refinement of paramagnetic bead-based digestion protocol for automatic sample preparation using an artificial neural network.

Despite technological advances in the proteomics field, sample preparation still represents the main bottleneck in mass spectrometry (MS) analysis. Bead-based protein aggregation techniques have recently emerged as an efficient, reproducible, and high-throughput alternative for protein extraction and digestion. Here, a refined paramagnetic bead-based digestion protocol is described for Opentrons® OT-2 platform (OT-2) as a versatile, reproducible, and affordable alternative for the automatic sample preparation for MS analysis. For this purpose, an artificial neural network (ANN) was applied to maximize the number of peptides without missed cleavages identified in HeLa extract by combining factors such as the quantity (µg) of trypsin/Lys-C and beads (MagReSyn® Amine), % (w/v) SDS, % (v/v) acetonitrile, and time of digestion (h). ANN model predicted the optimal conditions for the digestion of 50 µg of HeLa extract, pointing to the use of 2.5% (w/v) SDS and 300 µg of beads for sample preparation and long-term digestion (16h) with 0.15 µg Lys-C and 2.5 µg trypsin (≈1:17 ratio). Based on the results of the ANN model, the manual protocol was automated in OT-2. The performance of the automatic protocol was evaluated with different sample types, including human plasma, Arabidopsis thaliana leaves, Escherichia coli cells, and mouse tissue cortex, showing great reproducibility and low sample-to-sample variability in all cases. In addition, we tested the performance of this method in the preparation of a challenging biological fluid such as rat bile, a proximal fluid that is rich in bile salts, bilirubin, cholesterol, and fatty acids, among other MS interferents. Compared to other protocols described in the literature for the extraction and digestion of bile proteins, the method described here allowed identify 385 unique proteins, thus contributing to improving the coverage of the bile proteome.

Differences Between Simulated Keratometry and Total Corneal Power in Eyes With Keratoconus and a Formula to Improve IOL Power Calculation Results.

PURPOSE: To compare simulated keratometry (SimK) and total corneal power (TCP) in keratoconic eyes, to determine whether the differences are systematic and predictable and to evaluate an adjusted TCP-based formula for intraocular lens (IOL) power calculation. METHODS: In a consecutive series of keratoconic eyes, measurements of SimK, TCP, posterior keratometry, and anterior and posterior corneal asphericities (Q-values) were retrospectively collected. The difference between SimK and TCP was linearly correlated to the biometric parameters. In a separate sample of keratoconic eyes that had undergone cataract surgery, IOL power was calculated with the Barrett Universal II, Hoffer QST, Holladay 1, Kane, and SRK/T formulas using the SimK and an adjusted TCP power. The respective prediction errors were calculated. RESULTS: A total of 382 keratoconic eyes (271 patients) were enrolled. An increasing overestimation of SimK by TCP was detected from stage I to III, with a significant correlation between the SimK and TCP difference and SimK in the whole sample (P < .0001, r2 = 0.1322). Approximately 7% of cases presented an underestimation of SimK by TCP. IOL power calculation with the adjusted TCP improved outcomes, achieving a maximum of 80% of eyes with a prediction error within ±0.50 diopters with the Hoffer QST, Holladay 1, and Kane formulas. CONCLUSIONS: Overall, SimK overestimated TCP. Such a difference could not be predicted by any variable. The proposed TCP-adjustment formula (TCPadj = TCP + 0.56 diopters) in keratoconic eyes for IOL power calculation might be valuable for improving refractive outcomes. [J Refract Surg. 2024;40(4):e253-e259.].

Long-Term Low-Dose Pyrimethamine Use for the Prevention of Ocular Toxoplasmosis Recurrences: A Cohort Study.

PURPOSE: To describe the effect of long-term, low-dose pyrimethamine for the prevention of ocular toxoplasmosis (OT) recurrences. METHODS: Sixty-three consecutive patients with inactive ocular toxoplasmosis and positive toxoplasma IgG serology were included. Pyrimethamine (25 mg) + folinic acid (15 mg) were administered every other day (three times weekly) for 12 months. Eighteen patients received the treatment for an additional six months as part of an extension study. RESULTS: Thirty-eight patients (60.3%, n = 63) were female; 38 (60.3%) had a previous history of recurrence and 37 (58.7%) had active OT within the preceding 12 months. Three (4.8%) patients had unilateral recurrences at 8, 12 and 18 months after starting intermittent pyrimethamine treatment. Five patients (7.9%) were discontinued due to hematological, renal and hepatic changes. Treatment was considered successful in 42 patients (84%). CONCLUSION: Long-term, low-dose pyrimethamine can be considered as a treatment option for the prevention of ocular toxoplasmosis recurrence in selected patients, with only a few, mild and reversible systemic adverse events.

Plasmablastic Myeloma: An Unusual Cause of Peripheral Facial Paralysis.

Peripheral facial paralysis refers to the involvement of the facial nerve (VII cranial nerve) at any point along its path, which starts from its nucleus, located in the pons, and extends to its most distal branches. The etiology is heterogeneous, including viral infections, bacterial infections, trauma, and neoplasms, among others. However, in the majority of cases, the cause is idiopathic, commonly referred to as Bell's palsy. The diagnosis is therefore one of exclusion, based in particular on the physical examination. Naturally, the diagnosis is decisive in directing the therapeutic approach. However, the signs/symptoms of the various primary pathological processes can appear late in the course of the disease. This is why the Physical Medicine and Rehabilitation specialist is particularly important, since, in addition to the initial assessment, he or she monitors the patient more closely and over a longer period of time, together with the team of therapists. New clinical findings and diagnostic tests requested accordingly can dramatically change the initial diagnosis and guide new treatments. We present the clinical case of a 60-year-old man initially diagnosed with Bell's palsy, whose poor clinical evolution and new clinical findings during the rehabilitation program led to the diagnosis of plasmablastic myeloma and a radically different therapeutic approach.

Molecular Profiling of Axial Spondyloarthritis Patients Reveals an Association between Innate and Adaptive Cell Populations and Therapeutic Response to Tumor Necrosis Factor Inhibitors.

This study aims at identifying molecular biomarkers differentiating responders and non-responders to treatment with Tumor Necrosis Factor inhibitors (TNFi) among patients with axial spondyloarthritis (axSpA). Whole blood mRNA and plasma proteins were measured in a cohort of biologic-naïve axSpA patients (n = 35), pre and post (14 weeks) TNFi treatment with adalimumab. Differential expression analysis was used to identify the most enriched pathways and in predictive models to distinguish responses to TNFi. A treatment-associated signature suggests a reduction in inflammatory activity. We found transcripts and proteins robustly differentially expressed between baseline and week 14 in responders. C-reactive protein (CRP) and Haptoglobin (HP) proteins showed strong and early decrease in the plasma of axSpA patients, while a cluster of apolipoproteins (APOD, APOA2, APOA1) showed increased expression at week 14. Responders to TNFi treatment present higher levels of markers of innate immunity at baseline, and lower levels of adaptive immunity markers, particularly B-cells. A logistic regression model incorporating ASDAS-CRP, gender, and AFF3, the top differentially expressed gene at baseline, enabled an accurate prediction of response to adalimumab in our cohort (AUC = 0.97). In conclusion, innate and adaptive immune cell type composition at baseline may be a major contributor to response to adalimumab in axSpA patients. A model including clinical and gene expression variables should also be considered.

Design of customizable personal protective equipment for 3-D printing: Performance evaluation of N95 respirators using computational fluid dynamics.

3-D printing the structural components of facemasks and personal protective equipment (PPE) based on 3-D facial scans creates a high degree of customizability. As a result, the facemask fits more comfortably with its user's specific facial characteristics, filters contaminants more effectively with its increased sealing effect, and minimizes waste with its cleanable and reusable plastic structure compared to other baseline models. In this work, 3-D renditions of the user's face taken with smartphone laser scanning techniques were used to generate customized computer-aided design (CAD) models for the several components of an N95 respirator, which are each designed with considerations for assembly and 3-D printing constraints. Thorough analyses with computational fluid dynamics (CFD) simulations were carried out to verify the respirator's efficiency in filtering airborne contaminants to comply with industry safety guidelines and generate data to showcase the relationships between various input and output design parameters. This involved a comparative study to identify the ideal cross-sectional geometry of exposed filter fabric, a sensitivity study to evaluate the respirator's ability to protect the user in various scenarios, and the 3-D printing of several prototypes to estimate printing time, cost of materials, and comfort level at the user's face. Results showed that the combination of different digital tools can increase efficiency in the design, performance assessment, and production of customized N95-rated respirators.

Antimüllerian hormone levels and IVF outcomes in polycystic ovary syndrome women: a scoping review.

Antimüllerian hormone (AMH) is a homodimeric glycoprotein secreted by granulosa cells from primary to large antral follicles, and it plays an important role in the regulation of early follicle growth. It is considered a reliable marker of ovarian reserve and a predictor of ovarian response to controlled stimulation. Polycystic ovary syndrome (PCOS) is an endocrine condition that affects women of reproductive age worldwide, and it is associated with high levels of AMH. PCOS patients may have worse maturation and fertilization rates compared to normo-ovulatory women. Some studies have demonstrated a positive correlation between AMH levels and qualitative aspects of assisted reproduction treatment; but it is not clear whether high levels of both serum and follicular fluid AMH in PCOS patients correlate with in vitro fertilization outcomes. We ran this scoping review of the literature to address this specific question. We comprehensively searched the databases PubMed and Cochrane Library until January 2023. We found that higher AMH levels are associated with higher oocyte yield, but PCOS patients tend to have fewer mature oocytes and impaired embryo quality and implantation rates. Pregnancy rates, however, are not affected by AMH levels or laboratorial outcomes. We also found that higher AMH levels are associated with worse PCOS features.

An Uncommon Presentation of Aortic Endarteritis.

Endocarditis is an uncommon infectious complication of congenital heart disease (CHD), typically presenting with fever as its primary symptom; however, its occurrence may not always be accompanied by fever. This paper elaborates on a case involving a patient with surgically corrected Berry syndrome and residual aortic coarctation. The clinical presentation of aortic endarteritis in this case manifested as seizures attributed to a hemorrhagic stroke. In this paper, we aim to raise awareness of this infrequent complication of aortic coarctation, as it may present itself with cerebral hemorrhage due to septic microemboli, even in the absence of fever at its initial presentation.

Massive Pulmonary Arteriovenous Malformation as a Cause of Fetal Heart Failure.

Pulmonary arteriovenous malformations (AVMs) are abnormal connections between the pulmonary arteries and veins that can result in rapid-onset heart failure. We present a case of a fetus with pulmonary AVMs diagnosed at 22 weeks gestation. Fetal echocardiography showed cardiomegaly and dilated pulmonary arteries and veins reflecting the hemodynamic significance of the shunt. Inverted flow through the ductus arteriosus was also present. Fetal autopsy following medical termination of the pregnancy confirmed the morphological findings, including displacement of arteries and veins in proximity to the pleural surface. The genetic study was negative. This report highlights the cardiovascular impact of a rare disorder. Inverted flow through the ductus arteriosus may be another poor prognostic indicator, useful in parental counseling.

Valorization of baobab seeds (Adansonia digitata) as a coffee-like beverage: evaluation of roasting time on bioactive compounds.

The baobab tree (Adansonia digitata) can be found in sub-Saharan Africa, and its fruit presents high nutritional value. However, baobab seeds are often discarded and their potential remains underutilized. This study aimed to investigate the effect of roasting time (30/55/80/105 min at 200 °C) on the physical-chemical properties of baobab seeds and the bioactive compounds in a coffee-like beverage. The results showed a decrease in moisture, Aw (water activity), and hardness of baobab seeds with increasing roasting time. These changes resulted from moisture loss, caramelization, and Maillard reactions, which also affected appearance when compared with unroasted baobab seeds. The pH of the beverage decreased to a value of around 6.01 after 105 min of roasting. The total phenolic content and antioxidant activity of the beverage increased with roasting time, reaching 851.2 mg GAE/100 g (after 80 min) and 18.9 mmol Fe2+/100 g (after 55 min), respectively. The caffeine content remained stable around 16 mg/100 g from 55 to 105 min, lower than that of unroasted coffee beans and decaffeinated coffee. These findings suggest the potential for valorizing baobab seeds in the development of a new coffee-like beverage with lower caffeine content.

Bilateral breast cancer and the influence of body mass index in clinicopathological features and overall survival.

BACKGROUND: Breast cancer (BC) and obesity are two closely associated pathologies with increasing incidence and mortality rates. Bilateral Breast Cancer (BBC) displays a low incidence rate within BC and obesity represents a major risk factor. OBJECTIVE: The aim of this study is to analyzed BBC clinicopathological features distribution and determine the potential influence of obesity in BBC in these same features and overall survival. METHODS: Clinicopathological information was obtained from 42 cases of women with BBC diagnosed in IPO-Porto. To evaluate the frequency distribution of the clinicopathological data, a chi-square goodness of fit test was performed for BBC cases. A chi-square test of independence was applied for BMI stratification. Cox regression was performed for overall survival. Statistical significance was set at p-value < 0.05. RESULTS: Distribution of BBC clinicopathological features was found to be statistically significant in family history (p-value < 0.001), BBC type (p-value < 0.001), stage (p-value = 0.005), differentiation grade (p-value < 0.001), receptor expression (p-value < 0.001) and histological type (p-value = 0.031). In comparison to the statistical expected results, we observed an increased cases of absence of family history and less cases of metachronous BBC. Histological types between tumours of BBC were mostly concordant. All cases presented concordant receptor expression. Analysis stratified by BMI revealed that obese women were diagnosed later, although without statistical significance. All obese women presented poor differentiation grade (n = 6). Overweight patients display a tendency to a better overall survival with lower tumour stages and lower differentiation grades. CONCLUSIONS: Our results reveal the same receptor expression between contralateral tumours. Also, most tumours share the same histological type. When stratified by BMI, we observed a tendency for overweight women to have improved overall survival.

Intratendinous Ganglion Cyst of the Extensor Indicis: A Case Report.

An intratendinous ganglion cyst is a very rare benign lesion with an unknown etiology. The clinical diagnosis can be difficult as patients may have mild symptoms or impaired hand functionality. Ultrasound and magnetic resonance imaging can differentiate a ganglion cyst from other soft-tissue tumors and tumor-like lesions and provide excellent information on the location of an intratendinous lesion to schedule surgical treatment. We present a case report of a 50-year-old female diagnosed with an intratendinous ganglion cyst of the extensor indicis. She complained of right-hand swelling for three months, which was associated with pain. The US revealed an oval hypoechoic mass with cystic formation at the extensor indicis, measuring 9 x 4 mm, compatible with an intratendinous ganglion cyst. The cyst was excised by enucleation. After surgery, the patient was referred to the Department of Physical and Rehabilitation Medicine for evaluation. She started a rehabilitation programme. The patient presented a favourable clinical evolution with a return to her previous professional activity. However, six months after surgery, the cyst recurred, but with a smaller size and no associated pain.

Does body mass index influence surgical options and overall survival in breast cancer patients?

Obesity is a relevant risk factor in breast cancer (BC), but little is known about the effects of overweight and obesity in surgical outcomes of BC patients. The aim of this study is to analyse surgical options and associated overall survival (OS) in overweight and obese women with BC. In this study, 2143 women diagnosed between 2012 and 2016 at the Portuguese Oncology Institute of Porto (IPO-Porto) were included, and the clinicopathological information was retrieved from the institutional database. Patients were stratified by body mass index (BMI). Statistical analysis included Pearson's chi-squared test with statistical significance set at p < 0.05. Multinomial, binary logistic regression and cox proportional-hazards model were also performed to calculate odd ratios and hazard ratios with 95% confidence intervals for adjusted and non-adjusted models. The results revealed no statistical difference in histological type, topographic localization, tumour stage and receptor status and in the number of surgical interventions. Overweight women have increased probability to be subjected to sentinel node biopsy. Obese and overweight women are more likely to be submitted to conservative surgery and contrariwise, less likely to undergo total mastectomy. Patients submitted to conservative surgery and not submitted to total mastectomy had a favourable OS although without statistical significance. No significant differences were observed in OS when stratified by BMI. Our results revealed significant variations regarding the surgical options in overweight and obese patients, but these were not translated in OS difference. More research is recommended to better address treatment options in overweight and obese BC patients (AU)

The idiopathic inflammatory myopathies module of the Rheumatic Diseases Portuguese Register.

AIMS: To characterise the idiopathic inflammatory myopathies (IIM) module of the Rheumatic Diseases Portuguese Register (Reuma.pt/myositis) and the patients in its cohort. METHODS: Reuma.pt is a web-based system with standardised patient files gathered in a registry. This was a multicentre open cohort study, including patients registered in Reuma.pt/myositis up to January 2022. RESULTS: Reuma.pt/myositis was designed to record all relevant data in clinical practice and includes disease-specific diagnosis and classification criteria, clinical manifestations, immunological data, and disease activity scores. Two hundred eighty patients were included, 71.4% female, 89.4% Caucasian, with a median age at diagnosis and disease duration of 48.9 (33.6-59.3) and 5.3 (3.0-9.8) years. Patients were classified as having definite (N=57/118, 48.3%), likely (N=23/118, 19.5%), or possible (N=2/118, 1.7%) IIM by 2017 EULAR/ACR criteria. The most common disease subtypes were dermatomyositis (DM, N=122/280, 43.6%), polymyositis (N=59/280, 21.1%), and myositis in overlap syndromes (N=41/280, 14.6%). The most common symptoms were proximal muscle weakness (N=180/215, 83.7%) and arthralgia (N=127/249, 52.9%), and the most common clinical signs were Gottron's sign (N=75/184, 40.8%) and heliotrope rash (N=101/252, 40.1%). Organ involvement included lung (N=78/230, 33.9%) and heart (N=11/229, 4.8%) involvements. Most patients expressed myositis-specific (MSA, N=158/242, 65.3%) or myositis-associated (MAA, 112/242, 46.3%) antibodies. The most frequent were anti-SSA/SSB (N=70/231, 30.3%), anti-Jo1 (N=56/236, 23.7%), and anti-Mi2 (N=31/212, 14.6%). Most patients had a myopathic pattern on electromyogram (N=101/138, 73.2%), muscle oedema in magnetic resonance (N=33/62, 53.2%), and high CK (N=154/200, 55.0%) and aldolase levels (N=74/135, 54.8%). Cancer was found in 11/127 patients (8.7%), most commonly breast cancer (N=3/11, 27.3%). Most patients with cancer-associated myositis had DM (N=8/11, 72.7%) and expressed MSA (N=6/11) and/or MAA (N=3/11). The most used drugs were glucocorticoids (N=201/280, 71.8%), methotrexate (N=117/280, 41.8%), hydroxychloroquine (N=87/280, 31.1%), azathioprine (N=85/280, 30.4%), and mycophenolate mofetil (N=56/280, 20.0%). At the last follow-up, there was a median MMT8 of 150 (142-150), modified DAS skin of 0 (0-1), global VAS of 10 (0-50) mm, and HAQ of 0.125 (0.000-1.125). CONCLUSIONS: Reuma.pt/myositis adequately captures the main features of inflammatory myopathies' patients, depicting, in this first report, a heterogeneous population with frequent muscle, joint, skin, and lung involvements.