166 research outputs found
A nose for trouble.
A 63âyearâold Caucasian nonâsmoker presented with
purplish, firm, slowly growing plaques on the nose,
of 20 years duration. The bigger one involved the
upper part of the nose in its entirety [Figure 1], while
there were smaller ones on the left and right cheek. All
the plaques were asymptomatic and did not worsen
after sunlight exposure. His past medical history
was unremarkable. Hematological and biochemical
parameters were within normal limits. Histological
examination revealed a diffuse midâdermal cellular
infiltrate composed of neutrophils, eosinophils,
plasma cells, and lymphocytes. A narrow Grenz
zone was present. In the lower part of the reticular
dermis, the mixed infiltrate was intermingled with
a massive deposition of fascicled pattern collagen
fibers and spindle cell
Leg ulcer in Werner syndrome (adult progeria): a case report
Werner syndrome (WS; MIM#277700) or adult progeria, is a rare disease, associated with mutations of a single gene (RECQL2 or WRN), located on chromosome 8 (8p12). It codes a DNA-helicase, whose defects cause genomic instability. The highest incidences are reported in Japan and Sardinia (Italy). On this major island of the Mediterranean Basin, the WS cases have been observed in the northern areas. The authors describe the apparently first case reported in southern Sardinia, a 51-year-old woman, who was born in and resides in the province of Cagliari. She presented with a 9-year history of an intractable leg ulcer and other characteristic symptoms, including "bird-like" face, high-pitched voice, premature greying, short stature, abdominal obesity in contrast with thin body type, scleroderma-like legs, decreased muscle mass, diabetes, atherosclerosis, and premature menopause. A specialized genetic Institute of Research (IRCCS-IDI, Rome) confirmed the clinical diagnosis. There is no cure or specific treatment and patients must be periodically screened for an increased risk of cardiovascular and cerebrovascular disease and malignancies. Among the many findings, leg ulcers significantly affect the patient's quality of life. This problem may send the patient to the dermatologist, who finally suspects the diagnosis. Poor response to medical treatment may require aggressive repeated surgery, with poor or temporary results
Surgical Decision-Making in Spinal Instability in Facioscapulohumeral Muscular Dystrophy Related with a Spinal Muscle Atrophy
No abstract availabl
Obsessive-compulsive symptoms, polygenic risk score, and thalamic development in children from the Brazilian High-Risk Cohort for Mental Conditions (BHRCS)
Background: Thalamic volume measures have been linked to obsessive-compulsive disorder (OCD) in children and adolescents. However, it is unclear if alterations in thalamic volumes occur before or after symptom onset and if there is a relation to the presence of sub-clinical obsessive-compulsive symptoms (OCS). Here, we explore the relationship between OCS and the rate of thalamic volume change in a cohort of children and youth at high risk to develop a mental disorder. A secondary aim was to determine if there is a relationship between OCS and the individualâs OCD polygenic risk score (OCD-PRS) and between the rate of thalamic volume change and the OCD-PRS. Methods: The sample included 378 children enrolled in the longitudinal Brazilian High-Risk Cohort for Mental Conditions. Participants were assessed for OCS and the symmetrized percent change (SPC) of thalamic volume across two time-points separated by 3 years, along with the OCD-PRS. Zero-altered negative binomial models were used to analyze the relationship between OCS and thalamic SPC. Multiple linear regressions were used to examine the relationship between thalamic SPC and OCD-PRS. Results: A significant relationship between OCS and the right thalamus SPC (p = 0.042) was found. There was no significant relationship between changes in thalamic volume SPC and OCD-PRS. Conclusions: The findings suggest that changes in the right thalamic volume over the course of 3 years in children may be associated to OCS. Future studies are needed to confirm these results and further characterize the specific nature of OCS symptoms associated with thalamic volumes
Refurbishment of public housing villas in the United Arab Emirates (UAE): energy and economic impact
© 2016, Springer Science+Business Media Dordrecht. This study aims at assessing the technical and economic benefits of refurbishing existing public housing villas in the UAE. Four representative federal public housing villas built between 1980s and 2010s were modeled and analyzed. The Integrated Environmental Solutions-Virtual Environment (IES-VE) energy modeling software was used to estimate the energy consumption and savings due to different refurbishment configurations applied to the villas. The refurbishment technical configurations were based on the UAEâs Estidama green buildings sustainability assessment system. The refurbishment configurations include upgrading three elements: the wall and roof insulation as well as replacing the glazing. The annual electricity savings results indicated that the most cost-efficient refurbishment strategy is upgrading of wall insulation (savings up to 20.8 %) followed by upgrading the roofâs insulation (savings up to 11.6 %) and lastly replacing the glazing (savings up to 3.2 %). When all three elements were refurbished simultaneously, savings up to 36.7 % were achieved (villa model 670). The savings translated to CO2 emission reduction of 22.6 t/year. The simple and discounted payback periods for the different configurations tested ranged between 8 and 28 and 10 and 50 years, respectively
Targeting HSP90 for cancer therapy
Heat-shock proteins (HSPs) are molecular chaperones that regulate protein folding to ensure correct conformation and translocation and to avoid protein aggregation. Heat-shock proteins are increased in many solid tumours and haematological malignancies. Many oncogenic proteins responsible for the transformation of cells to cancerous forms are client proteins of HSP90. Targeting HSP90 with chemical inhibitors would degrade these oncogenic proteins, and thus serve as useful anticancer agents. This review provides an overview of the HSP chaperone machinery and the structure and function of HSP90. We also highlight the key oncogenic proteins that are regulated by HSP90 and describe how inhibition of HSP90 could alter the activity of multiple signalling proteins, receptors and transcriptional factors implicated in carcinogenesis
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Technology and implementation science to forge the future of evidence-based psychotherapies: the PRIDE scale-up study
Objective: To report the interim results from the training of providers in evidence-based psychotherapies (EBPs) and use of mobile applications.
Design and setting: The Partnerships in Research to Implement and Disseminate Sustainable and Scalable Evidence (PRIDE) study is a cluster-randomised hybrid effectiveness-implementation trial comparing three delivery pathways for integrating comprehensive mental healthcare into primary care in Mozambique. Innovations include the use of EBPs and scaling-up of task-shifted mental health services using mobile applications.
Main outcome measures: We examined EBP training attendance, certification, knowledge and intentions to deliver each component. We collected qualitative data through rapid ethnography and focus groups. We tracked the use of the mobile applications to investigate early reach of a valid screening tool (Electronic Mental Wellness Tool) and the roll out of the EBPs PARTICIPANTS: Psychiatric technicians and primary care providers trained in the EBPs.
Results: PRIDE has trained 110 EBP providers, supervisors and trainers and will train 279 community health workers in upcoming months. The trainings improved knowledge about the EBPs and trainees indicated strong intentions to deliver the EBP core components. Trained providers began using the mobile applications and appear to identify cases and provide appropriate treatment.
Conclusions: The future of EBPs requires implementation within existing systems of care with fidelity to their core evidence-based components. To sustainably address the vast mental health treatment gap globally, EBP implementation demands: expanding the mental health workforce by training existing human resources; sequential use of EBPs to comprehensively treat mental disorders and their comorbid presentations and leveraging digital screening and treatment applications.
Keywords: adult psychiatry; anxiety disorders; depression & mood disorders; schizophrenia & psychotic disorders; substance misuse.
© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ
An interlaboratory comparison of aerosol inorganic ion measurements by ion chromatography : Implications for aerosol pH estimate
Water-soluble inorganic ions such as ammonium, nitrate and sulfate are major components of fine aerosols in the atmosphere and are widely used in the estimation of aerosol acidity. However, different experimental practices and instrumentation may lead to uncertainties in ion concentrations. Here, an intercomparison experiment was conducted in 10 different laboratories (labs) to investigate the consistency of inorganic ion concentrations and resultant aerosol acidity estimates using the same set of aerosol filter samples. The results mostly exhibited good agreement for major ions Cl-, SO2-4, NO-3, NHC4 and KC. However, F-, Mg2C and Ca2C were observed with more variations across the different labs. The Aerosol Chemical Speciation Monitor (ACSM) data of nonrefractory SO2-4, NO-3 and NHC4 generally correlated very well with the filter-analysis-based data in our study, but the absolute concentrations differ by up to 42 %. Cl-from the two methods are correlated, but the concentration differ by more than a factor of 3. The analyses of certified reference materials (CRMs) generally showed a good detection accuracy (DA) of all ions in all the labs, the majority of which ranged between 90 % and 110 %. The DA was also used to correct the ion concentrations to showcase the importance of using CRMs for calibration check and quality control. Better agreements were found for Cl-, SO2-4, NO-3, NHC4 and KC across the labs after their concentrations were corrected with DA; the coefficient of variation (CV) of Cl-, SO2-4, NO-3, NHC4 and KC decreased by 1.7 %, 3.4 %, 3.4 %, 1.2 % and 2.6 %, respectively, after DA correction. We found that the ratio of anion to cation equivalent concentrations (AE/CE) and ion balance (anions-cations) are not good indicators for aerosol acidity estimates, as the results in different labs did not agree well with each other. In situ aerosol pH calculated from the ISORROPIA II thermodynamic equilibrium model with measured ion and ammonia concentrations showed a similar trend and good agreement across the 10 labs. Our results indicate that although there are important uncertainties in aerosol ion concentration measurements, the estimated aerosol pH from the ISORROPIA II model is more consistent
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