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Patients with psoriasis have a higher prevalence of cardiovascular risk factors. This study evaluated cardiovascular screening practices and statin prescribing habits among dermatologists, rheumatologists and primary care physicians (PCPs) through an online questionnaire, which was distributed through the Spanish scientific societies of the above-mentioned specialties. A total of 299 physicians (103 dermatologists, 94 rheumatologists and 102 PCPs) responded to the questionnaire. Of these, 74.6% reported screening for smoking, 37.8% for hypertension, 80.3% for dyslipidaemia, and 79.6% for diabetes mellitus. Notably, only 28.4% performed global screening, defined as screening for smoking, hypertension, dyslipidaemia, and diabetes mellitus by the same physician, and 24.4% reported calculating 10-year cardiovascular disease (CVD) risk, probably reflecting a lack of comprehensive cardiovascular risk assessment in these patients. This study also identified unmet needs for awareness of cardiovascular comorbidities in psoriasis and corresponding screening and treatment recommendations among PCPs. Of PCPs, 61.2% reported not being aware of the association between psoriasis and CVD and/or not being aware of its screening recommendations, and 67.6% did not consider psoriasis as a risk-enhancing factor when deciding on statin prescription. Thirteen dermatologists (12.6%) and 35 rheumatologists (37.2%) reported prescribing statins. Among those who do not prescribe, 49.7% would be willing to start their prescription. [ABSTRACT FROM AUTHOR]

Melanoma is considered to be the most serious and aggressive type of skin cancer, and metastasis appears to be the most important factor in its prognosis. Herein, we developed a transfer learning-based biomarker discovery model that could aid in the diagnosis and prognosis of this disease. After applying it to the ensemble machine learning model, results revealed that the genes found were consistent with those found using other methodologies previously applied to the same TCGA (The Cancer Genome Atlas) data set. Further novel biomarkers were also found. Our ensemble model achieved an AUC of 0.9861, an accuracy of 91.05, and an F1 score of 90.60 using an independent validation data set. This study was able to identify potential genes for diagnostic classification (C7 and GRIK5) and diagnostic and prognostic biomarkers (S100A7, S100A7, KRT14, KRT17, KRT6B, KRTDAP, SERPINB4, TSHR, PVRL4, WFDC5, IL20RB) in melanoma. The results show the utility of a transfer learning approach for biomarker discovery in melanoma. [ABSTRACT FROM AUTHOR]

To evaluate the efficacy of oral colistin-neomycin in preventing multidrug-resistant Enterobacterales (MDR-E) infections in solid organ transplant (SOT) recipients. Multicentre, open-label, parallel-group, controlled trial with balanced (1:1) randomization in five transplant units. SOT recipients were screened for MDR-E intestinal colonization (extended-spectrum β-lactamase or carbapenemase producing) before transplantation and +7 and + 14 days after transplantation and assigned 1:1 to receive treatment with colistin sulfate plus neomycin sulfate for 14 days (decolonization treatment (DT) group) or no treatment (no decolonization treatment (NDT) group). The primary outcome was diagnosis of an MDR-E infection. Safety outcomes were appearance of adverse effects, mainly diarrhoea, rash, nausea and vomiting. Patients were monitored weekly until 30 days after treatment. Intention-to-treat analysis was performed. MDR-E rectal colonization was assessed in 768 SOT recipients; 105 colonized patients were included in the clinical trial, 53 receiving DT and 52 NDT. No significant decrease in the risk of infection by MDR-E was observed in the DT group (9.4%, 5/53) compared to the NDT group (13.5%, 7/52) (relative risk 0.70; 95% confidence interval 0.24–2.08; p 0.517). Four patients (5.6%), three (5.6%) in the DT group and one (1.9%) in the NDT group, developed colistin resistance. Twelve patients (22.7%) in the DT group had diarrhoea, eight related to treatment (15.0%); one patient (1.8%) developed skin rash and another (1.8%) nausea and vomiting. Two patients (3.8%) in the NDT group developed diarrhoea. DT does not reduce MDR-E infections in SOT. Colistin resistance and adverse effects such as diarrhoea are a potential issue that must be taken seriously. [ABSTRACT FROM AUTHOR]

Background: Rare diseases present a wide spectrum of clinical manifestations and severity levels and are often poorly known and underrepresented, making them difficult to classify. Diagnoses are usually coded using the International Classification of Diseases (ICD), with its different versions. In Spain, the ICD-10-ES (stem from the ICD-10-CM-Clinical Modification) is used throughout the National Healthcare System since 2016, indistinctively including rare diseases that often lack a specific code. Orphanet aims to provide high-quality resources on rare diseases. The goal was to interrelate the Orphanet classification with the ICD-10-ES in order to engage a tool to track rare diseases diagnosis and characterize the improvement space for the identification of rare diseases patients in the Spanish Healthcare System.Methods: 5775 disorder level ORPHAcodes were mapped to ICD-10-ES codes by comparing the descriptors associated in both classifications. ORPHAcodes were then clustered based on their assigned ICD-10-ES chapter and the redundancy of each individual ICD-10-ES code was calculated by counting the ORPHAcodes they mapped to. Three groups were established: Group 1 (1 ORPHAcode per ICD-10-ES), Group 2 (between 2-49 ORPHAcodes per ICD-10-ES) and Group 3 (≥ 50 ORPHAcodes per ICD-10-ES).Results: Equivalences to 1700 ICD-10-ES codes were established for 5664 ORPHAcodes. The ORPHAcodes distribution within the ICD-10-ES showed an aggregation in the "Q" (> 40%), "G" (> 14%), and "E" (12%) chapters. The availability of ICD-10-ES codes to map ORPHAcodes reached its lowest at the "G" and "Q" chapters with less than 0.2 ICD-10-ES codes available per ORPHAcode. Global ICD-10-ES codes redundancy analysis revealed that only 1055 of the equivalences pertain to group 1. Group 2 contained 3358 equivalences with 634 ICD-10-ES codes while 1322 equivalences were group 3 (11 ICD-10-ES). Within ICD-10-ES chapters, "G" and "Q" contained over 30% and 45% of their own equivalences in the highest redundancy level (group 3) respectively, but under 10% one to one equivalences each (group 1).Conclusions: ICD-10-ES codes have not enough specificity to identify rare diseases. Direct mapping between ICD and ORPHAcodes or the integration of ORPHAcodes at the healthcare system for diagnoses codification would enable better detection and epidemiological analysis of rare diseases. [ABSTRACT FROM AUTHOR]

Introduction. Renal biopsy is the principal instrument to evaluate the diagnosis and prognosis of children with kidney disease. There are relatively few studies establishing epidemiology of its findings in the pediatric population. Methods. A descriptive study was conducted to describe characteristics of pediatric patients who had undergone a renal biopsy over the last 10 years in a national reference center, trying to accomplish an etiopathogenic approach of biopsy findings. Results. 241 patients were included. Most frequent indications were nephrotic syndrome (34.1%) and systemic disease with renal involvement (30.2%). The most prevalent biopsy diagnosis was glomerulonephritis (44%) and among these patients, glomerulonephritis mediated by immune complexes was the most frequent pathogenic type (90.5%). When the biopsy was indicated for proteinuria plus hematuria and systemic disease with renal involvement, the most frequent biopsy diagnosis was glomerulonephritis (60 and 85%, respectively). For isolated hematuria, the predominant biopsy diagnosis was inherited diseases of the glomerular basement membrane (70%) and for nephrotic syndrome, podocytopathy (82%). Glomerulonephritis was more frequent in patients older than 10 yrs (65%) and the rate of postbiopsy major complications was low (1.2%). Conclusion. Immune complex glomerulonephritis was the most frequent histological finding, differing from previous reports. To our knowledge this is the first description that classifies biopsy findings according to the probable pathogenic mechanism. [ABSTRACT FROM AUTHOR]

Objective. To estimate rates of cases of respiratory symptomatic subjects and the incidence rate of pulmonary tuberculosis in two border areas of Ecuador, and contrast them with official figures. Materials and methods. Cross-sectional survey in the southeastern (SEBA), and the Andean southern Ecuadorian border areas (ASBA), which were conducted, respectively, in 1 598 and 2 419 persons aged over 15 years recruited over periods of three weeks. In identified respiratory symptomatic cases, a sputum sample was taken for smear testing. The results (odds ratios and their respective 95% confidence intervals), were compared with local and national official figures using maximum likelihood contrasts. Results. The rates of respiratory symptomatic subjects (7.7% and 5.9% in the SEBA, and ASBA, respectively) and of pulmonary tuberculosis (cumulative incidence rates of 125 and 140 per 100 000 inhabitants, in the same order) were significantly greater than the official figures (of 0.98 and 0.99% for respiratory symptomatic subjects in the SEBA and ASBA, respectively; and of 38.23 per 100 000 inhabitants for pulmonary tuberculosis in Ecuador as a whole) (p<0.001). Conclusion. It is necessary to reinforce both active case finding for respiratory symptomatic subject cases, and epidemiological surveillance of pulmonary tuberculosis in Ecuadorian border regions. [ABSTRACT FROM AUTHOR]

Lung cancer (LC) is the leading cause of cancer-related death worldwide. Although the diagnosis and treatment of non-small cell lung cancer (NSCLC), which accounts for approximately 80% of LC cases, have greatly improved in the past decade, there is still an urgent need to find more sensitive and specific screening methods. Recently, new molecular biomarkers are emerging as potential non-invasive diagnostic agents to screen NSCLC, including multiple microRNAs (miRNAs) that show an unusual expression profile. Moreover, peripheral blood mononuclear cells' (PBMCs) miRNA profile could be linked with NSCLC and used for diagnosis. We developed a molecular beacon (MB)-based miRNA detection strategy for NSCLC. Following PBMCs isolation and screening of the expression profile of a panel of miRNA by RT-qPCR, we designed a MB targeting of up-regulated miR-21-5p. This MB 21-5p was characterized by FRET-melting, CD, NMR and native PAGE, allowing the optimization of an in-situ approach involving miR-21-5p detection in PBMCs via MB. Data show the developed MB approach potential for miR-21-5p detection in PBMCs from clinical samples towards NSCLC. [ABSTRACT FROM AUTHOR]

Early diagnosis, monitoring and treatment selection of cancer represent major challenges in medicine. The definition of the complex clinical and molecular landscape of cancer requires the combination of multiple techniques and the investigation of multiple targets. As a result, diagnosis is normally lengthy, expensive and, in many cases, cannot be performed recursively. In recent years, optical biosensors, especially those based on the unique properties of plasmonic nanostructures, have emerged as one of the most exciting tools in nanomedicine, capable of overcoming key limitations of classical techniques. In this review, we specifically focus our attention on the latest advances in optical biosensors exploiting surface-enhanced Raman scattering encoded particles for the characterization of tumor single cells (molecular biology) and tissues (immunohistochemistry and guided surgery), as well as their application in guided surgery or even in bioimaging of living organisms. [ABSTRACT FROM AUTHOR]

Early diagnosis of genetic rare diseases is an unmet need in Brazil, where an estimated 10–13 million people live with these conditions. Increased use of chromosome microarray assays, exome sequencing, and whole genome sequencing as first-tier testing techniques in suitable indications can shorten the diagnostic odyssey, eliminate unnecessary tests, procedures, and treatments, and lower healthcare expenditures. A selected panel of Brazilian experts in fields related to rare diseases was provided with a series of relevant questions to address before a multi-day conference. Within this conference, each narrative was discussed and edited through numerous rounds of discussion until agreement was achieved. The widespread adoption of exome sequencing and whole genome sequencing in Brazil is limited by various factors: cost and lack of funding, reimbursement, awareness and education, specialist shortages, and policy issues. To reduce the burden of rare diseases and increase early diagnosis, the Brazilian healthcare authorities/government must address the barriers to equitable access to early diagnostic methods for these conditions. Recommendations are provided, including broadening approved testing indications, increasing awareness and education efforts, increasing specialist training opportunities, and ensuring sufficient funding for genetic testing. [ABSTRACT FROM AUTHOR]

Background: Lung neuroendocrine tumors account for approximately 15% of all lung cancer cases. LNET are subdivided into typical carcinoid (TC), atypical carcinoid (AC), large cell neuroendocrine carcinoma (LCNEC), and small-cell lung cancer (SCLC). The Ki-67 index has been used for decades to evaluate mitotic counts however, the role of Ki-67 as a biomarker for assessing prognosis and guiding therapy in metastatic LNET still lacks feasible clinical validation. Recent clinical trials have indicated that inhibition of CD47 with anti-CD47 antibodies exerts a promising antitumor effect against several human malignancies, including NSCLC, melanoma, and hematologic malignancies. However, the clinical relevance of CD47 expression in LNET has remained unclear.Methods: We performed a retrospective study in which we analyzed tumor biopsies from 51 patients with a confirmed diagnosis of LNET that received treatment at our hospital. Then, we analyzed if there was any correlation between CD47 expression with any clinical or pathological characteristic. We also analyzed the prognostic significance of CD47, assessed as progression-free survival and overall survival.Results: A total of 51 patients with LNET were enrolled in our study. The mean age at diagnosis was 57.6 (±11.6) years; 30 patients were women (59%). 27.5% of patients were positive for CD47 expression, and 72.5% of patients showed a CD47 expression of less than 1% and were considered as negatives. In patients with high-grade tumors (this time defined as Ki-67 > 40%), the positive expression of CD47 was strongly associated with an increased PFS. Albeit, these differences did not reach statistical significance when analyzing OS.Conclusion: Contrary to what happens in a wide range of hematologic and solid tumors, a higher expression of CD47 in patients with LNET is associated with a better progression-free survival, especially in patients with a Ki-67 ≥ 40%. This "paradox" remains to be confirmed and explained by larger studies. [ABSTRACT FROM AUTHOR]

Background: Those infected by human immunodeficiency virus (HIV) have a higher risk of opportunistic infections. The risk is related to the level of immunosuppression. We report a case of a young male with the unusual scenario of three opportunistic infections occurring simultaneously: Cryptococcosis, Histoplasmosis and Cryptosporidiosis. Histoplasmosis and cryptococcosis are major causes of morbimortality in immunocompromised patients due to HIV infection.Case Presentation: We report the case of a patient with HIV infection with a CD4 T lymphocyte cell (CD4) count of 2 cells/mm3, who presented with 6 months of diarrhea, non-productive dry cough, nocturnal diaphoresis, fever, weight loss, and a maculopapular rash. He had a concurrent infection with three opportunistic microorganisms: fungemia by cryptococcosis, disseminated histoplasmosis confirmed by detection of the antigen in urine and chronic diarrhea by cryptosporidiosis confirmed by direct observation in feces by modified Ziehl-Neelsen stain. The patient received antifungal treatment with a satisfactory outcome.Conclusions: There are still regions where HIV detection programs are deficient thus facilitating occurrence of HIV infection cases in advanced stages of immunosuppression. A high level of suspicion of systemic mycoses and concurrent infection by several opportunistic pathogens is required in severely immunocompromised patients. [ABSTRACT FROM AUTHOR]

Early diagnosis, monitoring and treatment selection of cancer represent major challenges in medicine. The definition of the complex clinical and molecular landscape of cancer requires the combination of multiple techniques and the investigation of multiple targets. As a result, diagnosis is normally lengthy, expensive and, in many cases, cannot be performed recursively. In recent years, optical biosensors, especially those based on the unique properties of plasmonic nanostructures, have emerged as one of the most exciting tools in nanomedicine, capable of overcoming key limitations of classical techniques. In this review, we specifically focus our attention on the latest advances in optical biosensors exploiting surface-enhanced Raman scattering encoded particles for the characterization of tumor single cells (molecular biology) and tissues (immunohistochemistry and guided surgery), as well as their application in guided surgery or even in bioimaging of living organisms. [ABSTRACT FROM AUTHOR]

Human respiratory syncytial virus (HRSV) is a major cause of acute lower respiratory tract infections in infants and children worldwide. We performed molecular analysis of HRSV among infants and children with clinical diagnosis of severe pneumonia in four study sites in the Philippines, including Biliran, Leyte, Palawan, and Metro Manila from June 2012 to July 2013. Nasopharyngeal swabs were collected and screened for HRSV using real-time polymerase chain reaction (PCR). Positive samples were tested by conventional PCR and sequenced for the second hypervariable region (2nd HVR) of the G gene. Among a total of 1,505 samples, 423 samples were positive for HRSV (28.1%), of which 305 (72.1%) and 118 (27.9%) were identified as HRSV-A and HRSV-B, respectively. Two genotypes of HRSV-A, NA1 and ON1, were identified during the study period. The novel ON1 genotype with a 72-nucleotide duplication in 2nd HVR of the G gene increased rapidly and finally became the predominant genotype in 2013 with an evolutionary rate higher than the NA1 genotype. Moreover, in the ON1 genotype, we found positive selection at amino acid position 274 (p<0.05) and massive O- and N-glycosylation in the 2nd HVR of the G gene. Among HRSV-B, BA9 was the predominant genotype circulating in the Philippines. However, two sporadic cases of GB2 genotype were found, which might share a common ancestor with other Asian strains. These findings suggest that HRSV is an important cause of severe acute respiratory infection among children in the Philippines and revealed the emergence and subsequent predominance of the ON1 genotype and the sporadic detection of the GB2 genotype. Both genotypes were detected for the first time in the Philippines. [ABSTRACT FROM AUTHOR]

Unexpected acute respiratory failure after anesthesia is a diagnostic challenge: residual neuromuscular blockade, bronchial hyperresponsiveness, laryngospasm, atelectasis, aspiration pneumonitis, and other more uncommon causes should be taken into account at diagnosis. Lung ultrasound and echocardiography are diagnostic tools that would provide the differential diagnosis. We report a suspected case of a transfusion related acute lung injury (TRALI) following administration of platelets. The usefulness of lung and cardiac ultrasound is discussed to facilitate the challenging diagnosis of the acute early postoperative respiratory failure. [ABSTRACT FROM AUTHOR]

Since its 2013 emergence in the Americas, Chikungunya virus (CHIKV) has posed a serious threat to public health. Early and accurate diagnosis of the disease, though currently lacking in clinics, is integral to enable timely care and epidemiological response. We developed a dual detection system: a CHIKV antigen E1/E2-based enzyme-linked immunosorbent assay (ELISA) and a lateral flow test using high-affinity anti-CHIKV antibodies. The ELISA was validated with 100 PCR-tested acute Chikungunya fever samples from Honduras. The assay had an overall sensitivity and specificity of 51% and 96.67%, respectively, with accuracy reaching 95.45% sensitivity and 92.03% specificity at a cycle threshold (Ct) cutoff of 22. As the Ct value decreased from 35 to 22, the ELISA sensitivity increased. We then developed and validated two lateral flow tests using independent antibody pairs. The sensitivity and specificity reached 100% for both lateral flow tests using 39 samples from Colombia and Honduras at Ct cutoffs of 20 and 27, respectively. For both lateral flow tests, sensitivity decreased as the Ct increased after 27. Because CHIKV E1/E2 are exposed in the virion surfaces in serum during the acute infection phase, these sensitive and specific assays demonstrate opportunities for early detection of this emerging human pathogen. [ABSTRACT FROM AUTHOR]