Mechanisms modulating foam cell formation in the arterial intima: exploring new therapeutic opportunities in atherosclerosis.

In recent years, the role of macrophages as the primary cell type contributing to foam cell formation and atheroma plaque development has been widely acknowledged. However, it has been long recognized that diffuse intimal thickening (DIM), which precedes the formation of early fatty streaks in humans, primarily consists of lipid-loaded smooth muscle cells (SMCs) and their secreted proteoglycans. Recent studies have further supported the notion that SMCs constitute the majority of foam cells in advanced atherosclerotic plaques. Given that SMCs are a major component of the vascular wall, they serve as a significant source of microvesicles and exosomes, which have the potential to regulate the physiology of other vascular cells. Notably, more than half of the foam cells present in atherosclerotic lesions are of SMC origin. In this review, we describe several mechanisms underlying the formation of intimal foam-like cells in atherosclerotic plaques. Based on these mechanisms, we discuss novel therapeutic approaches that have been developed to regulate the generation of intimal foam-like cells. These innovative strategies hold promise for improving the management of atherosclerosis in the near future.

Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU): Trial Satisfaction and Attitudes towards Future Clinical Trials.

BACKGROUND: Clinical trial satisfaction is increasingly important for future trial designs and is associated with treatment adherence and willingness to enroll in future research studies or to recommend trial participation. In this post-trial survey, we examined participant satisfaction and attitudes toward future clinical trials in the Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU). METHODS: We developed an anonymous, participant satisfaction survey tailored to participants enrolled in the DIAN-TU-001 double-blind clinical trial of solanezumab or gantenerumab and requested that all study sites share the survey with their trial participants. A total of 194 participants enrolled in the trial at 24 study sites. We utilized regression analysis to explore the link between participants' clinical trial experiences, their satisfaction, and their willingness to participate in upcoming trials. RESULTS: Survey responses were received over a sixteen-month window during 2020-2021 from 58 participants representing 15 study sites. Notably, 96.5% of the survey respondents expressed high levels of satisfaction with the trial, 91.4% would recommend trial participation, and 96.5% were willing to enroll again. Age, gender, and education did not influence satisfaction levels. Participants reported enhanced medical care (70.7%) and pride in contributing to the DIAN-TU trial (84.5%). Satisfaction with personnel and procedures was high (98.3%). Respondents had a mean age of 48.7 years, with most being from North America and Western Europe, matching the trial's demographic distribution. Participants' decisions to learn their genetic status increased during the trial, and most participants endorsed considering future trial participation regardless of the DIAN-TU-001 trial outcome. CONCLUSION: Results suggest that DIAN-TU-001 participants who responded to the survey exhibited high motivation to participate in research, overall satisfaction with the clinical trial, and willingness to participate in research in the future, despite a long trial duration of 4-7 years with detailed annual clinical, cognitive, PET, MRI, and lumbar puncture assessments. Implementation of features that alleviate barriers and challenges to trial participation is like to have a high impact on trial satisfaction and reduce participant burden.

Temporal and institutional trends in robotic surgery.

Robotic surgery has become increasingly prevalent in general surgery practice. While previous studies have shown the safety and efficacy of robotic assistance in laparoscopic general surgery procedures, few studies have evaluated the temporal and regional trends in implementation. In our retrospective population-based study, we aim to evaluate the national trends in robotic surgery. National Inpatient Database (NIS 2009-2014) was used to identify adults who underwent robotic assisted surgery (ICD 9 codes 17.41 to 17.49). Robotic procedures related to seven abdominal organ systems were compared against the trends of Urology, Gynaecologic, and Orthopedic robotic procedures. Discharge weights were applied to calculate National temporal trends separated by hospital size, teaching status and US geographic region. 894,163 patients received a robotic assisted procedure between 2009 and 2014 with 64% increase in utilization. The largest percent change was witnessed in biliary robotic procedures with 2984% change in utilization, followed by hernia (1376%). Lowest percent change was witnessed in esophageal procedures with 114% increase. Medium sized hospitals had the largest change in robotic utilization (41%), with large institutions seeing 18% decrease. Gastric procedures were the most common robotic procedure performed at small institutions (7917 total cases; 316%). Large institutions saw an overall decrease in gastric (- 47%), esophageal (- 17%), small and large intestinal (-16%), and hepatic (- 7%) robotic procedures. Rural non-teaching hospitals saw the largest increase in robotic surgery (274%). Urban non-teaching hospitals saw a decrease of 29%. While urban teaching institutions saw a 20% and 6% increase in gynecological and urological procedures, an overall decrease was seen in esophageal (- 10%), gastric (- 12%), intestinal (- 11%), hepatic (- 17%), biliary (- 10%), pancreatic (- 11%) and hernia procedures (- 14%). Biliary procedures saw the largest increase in rural institutions (740 cases; 392%), followed by hernia (144% increase). South region of the nation had the largest increase in robotic procedures (23%). No change was seen in the use of robotic surgery in the northeast region with the midwest and west seeing an overall decrease (- 4% and - 22%, respectively). Our study highlights the increase in use of robotics for both general and specialty surgery, with an increase in utilization over time. Increased incidence of robotic surgery in smaller, rural institutions with overall decrease in larger, urban teaching hospitals suggests increasing comfort in robotic surgery in the community setting. Further studies are necessary to evaluate the factors associated with increased utilization in smaller institutions.

Thickness dependence of the room-temperature ethanol sensor properties of Cu2O polycrystalline films.

This study investigates the fabrication process of copper thin films via thermal evaporation, with precise control over film thickness achieved throughZ-position adjustment. Analysis of the as-fabricated copper films reveals a discernible relationship between grain size (〈D〉) andZ-position, characterized by a phenomenological equation〈D〉XRDn(Z)=〈D〉0n1+32rZ2+158rZ4, which is further supported by a growth exponent (n) of 0.41 obtained from the analysis. This value aligns well with findings in the literature concerning the growth of copper films, thus underlining the validity and reliability of our experimental outcomes. The resulting crystallites, ranging in size from 20 to 26 nm, exhibit a resistivity within the range of 3.3-4.6µΩ · cm. Upon thermal annealing at 200 °C, cuprite Cu2O thin films are produced, demonstrating crystallite sizes ranging from ∼9 to ∼24 nm with increasing film thickness. The observed monotonic reduction in Cu2O crystallites relative to film thickness is attributed to a recrystallization process, indicating amorphization when oxygen atoms are introduced, followed by the nucleation and growth of newly formed copper oxide phase. Changes in the optical bandgap of the Cu2O films, ranging from 2.31 to 2.07 eV, are attributed mainly to the quantum confinement effect, particularly important in Cu2O with size close than the Bohr exciton diameter (5 nm) of the Cu2O. Additionally, correlations between refractive index and extinction coefficient with film thickness are observed, notably a linear relationship between refractive index and charge carrier density. Electrical measurements confirm the presence of a p-type semiconductor with carrier concentrations of ∼1014cm-3, showing a slight decrease with film thickness. This phenomenon is likely attributed to escalating film roughness, which introduces supplementary scattering mechanisms for charge carriers, leading to a resistivity increase, especially as the roughness approaches or surpasses the mean free path of charge carriers (8.61 nm). Moreover,ab-initiocalculations on the Cu2O crystalline phase to investigate the impact of hydrostatic strain on its electronic and optical properties was conducted. We believe that our findings provide crucial insights that support the elucidation of the experimental results. Notably, thinner cuprite films exhibit heightened sensitivity to ethanol gas at room temperature, indicating potential for highly responsive gas sensors, particularly for ethanol breath testing, with significant implications for portable device applications.

Diagnosis and treatment of deep vein thrombosis of the lower and upper limbs. 2024 recommendations of the venous thromboembolism group of the Spanish Society of Internal Medicine.

Deep vein thrombosis (DVT) of the limbs is a common disease and causes significant morbidity and mortality. It is frequently the prelude to pulmonary embolism (PE), it can recur in 30% of patients and in 25-40% of cases they can develop post-thrombotic syndrome (PTS), with a significant impact in functional status and quality of life. This document contains the recommendations on the diagnosis and treatment of acute DVT from the Thromboembolic Disease group of the Spanish Society of Internal Medicine (SEMI). PE and thrombosis of unusual venous territories (cerebral, renal, mesenteric, superficial, etc.) are outside its scope, as well as thrombosis associated with catheter and thrombosis associated with cancer, which due to their peculiarities will be the subject of other positioning documents of the Thromboembolic Disease group of the Spanish Society of Internal Medicine (SEMI).

Risk factors for oral mucositis in patients with solid tumors under treatment with cetuximab: a retrospective cross-sectional study.

BACKGROUND: This study retrospectively analyzed the risk factors for oral mucositis (OM) during cetuximab treatment. MATERIAL AND METHODS: We screened patients using cetuximab and retrospectively evaluated the presence of OM based on medical records. We collected information from 2 years of evaluations. Patient medical records were reviewed to obtain data on chemotherapy cycle and dose, sex, age, primary tumor, TNM stage, and head and neck radiotherapy (HNR) history. The X2 test and multinomial logistic regression were used for statistical analysis (SPSS 20.0, p < 0.05). RESULTS: Among 1831 patients, OM was showed in 750 in any grade (41%), during cetuximab treatment. Most patients were female (n=944, 51.6%), <70years-old (n=1149, 62.8%), had larynx cancer (n=789, 43.1%) in T4 (n=579, 47.7%), N0 (n=509, 52.6%) stages. Primary tumor surgery was performed in 1476 (80.6%) patients, radiotherapy in 606 (33.1%) patients and cetuximab protocols most used involved up to four cycles (n=1072, 58.5%) of <400mg (n=996, 54.4%) cetuximab doses. Female (OR [odds ratio] = 2.17, CI95% = 1.26-3.75), >70 years-old patients (OR = 16.02, CI95% = 11.99-21.41), with HHNR (OR = 1.84, 1.41-2.40), treated with >4 cycles (OR = 1.52, CI95% = 1.16-2.01) and high doses of cetuximab (OR = 3.80, CI95% = 2.52-5.71) are the greatest risk factors for OM. CONCLUSIONS: Since the clinical benefit of cetuximab in the treatment of older patients is limited and there is a high OM, especially in women with head and neck treated with radiotherapy, high doses and a high number of cetuximab cycles must be administered with caution.

Impact of N-Acetylcysteine in the mortality of patients hospitalized with COVID-19: a retrospective cohort study.

INTRODUCTION AND AIM: N-Acetylcysteine has been proposed for the treatment of COVID-19 thanks to its mucolytic, antioxidant and anti-inflammatory effects. Our aim is to evaluate its effect on patients admitted with COVID-19 in mortality terms. MATERIAL AND METHODS: Retrospective single-center cohort study. All patients admitted to our hospital for COVID-19 from March to April 2020 have been considered. RESULTS: A total of 378 patients were included, being 196 (51.9%) men, with an average age of 73.3±14.5 years. 52.6% (199) received treatment with N-Acetylcysteine. More than 70% presented coughs, fever, and/or dyspnea. The global hospital mortality was 26.7%. A multivariate analysis through logistic regression identified the age of patients [older than 80; OR: 8.4 (CI95%:3-23.4)], a moderate or severe radiologic affectation measured by the RALE score [OR:7.3 (CI95%:3.2-16.9)], the tobacco consumption [OR:2.8 (CI95%:1.3-6.1)] and previous arrhythmia [OR 2.8 (CI95%: 1.3-6.2)] as risk factor that were independently associated with mortality during the admission. The treatment with N-Acetylcysteine was identified as a protective factor [OR: 0.57 (CI95%: 0.31-0.99)]. Asthma also seems to have a certain protective factor although it was not statistically significant in our study [OR: 0.19 (CI95%: 0.03-1.06)]. CONCLUSIONS: Patients with COVID-19 treated with N-acetylcysteine have presented a lower mortality and a better evolution in this study. Future prospective studies or randomized clinical trials must confirm the impact of N-Acetylcysteine on COVID-19 patients.

Patritumab deruxtecan in untreated hormone receptor-positive/HER2-negative early breast cancer: final results from part A of the window-of-opportunity SOLTI TOT-HER3 pre-operative study.

BACKGROUND: Patritumab deruxtecan (HER3-DXd) is a human epidermal growth factor receptor 3 (HER3)-directed antibody-drug conjugate composed of a fully human anti-HER3 monoclonal antibody (patritumab) covalently linked to a topoisomerase I inhibitor payload via a stable, tumor-selective, tetrapeptide-based cleavable linker. TOT-HER3 is a window-of-opportunity study designed to assess the biological activity, measured by CelTIL score [= -0.8 × tumor cellularity (in %)  + 1.3  × tumor-infiltrating lymphocytes (TILs) (in %)], and clinical activity of HER3-DXd during short-term (21 days) pre-operative treatment in patients with primary operable HER2-negative early breast cancer. PATIENTS AND METHODS: Patients with previously untreated hormone receptor-positive/HER2-negative tumors were allocated to one of four cohorts according to baseline ERBB3 messenger RNA expression. All patients received one dose of HER3-DXd 6.4 mg/kg. The primary objective was to evaluate change from baseline in CelTIL score. RESULTS: Seventy-seven patients were evaluated for efficacy. A significant change in CelTIL score was observed, with a median increase from baseline of 3.5 (interquartile range, -3.8 to 12.7; P = 0.003). Among patients assessable for clinical response (n = 62), an overall response rate of 45% was observed (tumor measurement by caliper), with a trend toward an increase in CelTIL score among responders compared with non-responders (mean difference, +11.9 versus +1.9). Change in CelTIL score was independent of baseline ERBB3 messenger RNA and HER3 protein levels. Genomic changes occurred, including switching toward a less proliferative tumor phenotype based on PAM50 subtypes, suppression of cell proliferation genes, and induction of genes associated with immunity. Treatment-emergent adverse events were observed in 96% of patients (14% grade ≥3); most common were nausea, fatigue, alopecia, diarrhea, vomiting, abdominal pain, and neutrophil count decrease. CONCLUSIONS: A single dose of HER3-DXd was associated with clinical response, increased immune infiltration, suppression of proliferation in hormone receptor-positive/HER2-negative early breast cancer, and a tolerable safety profile consistent with previously reported results. These findings support further study of HER3-DXd in early breast cancer.

Percutaneous closure of a ruptured right coronary sinus of Valsalva aneurysm that mimics severe aortic regurgitation.

A 34-year-old male was admitted with presumed acute, severe aortic regurgitation. Multimodal imaging was performed and showed a ruptured right coronary sinus of Valsalva aneurysm into the right atrium. He underwent a percutaneous closure of the ruptured sinus of Valsalva aneurysm. The patient had major clinical improvement.

[Stress hip fractures in men in military training]. / Fracturas de cadera por estrés en hombres en entrenamiento militar.

INTRODUCTION: Stress fractures are common injuries in the military population, they begin with the imposition of repetitive and excessive effort on the bone. This leads to the acceleration of bone remodeling and production of microfractures. The incidence, during their basic combat training, is 0.8 to 5.1% for men compared to 1.1 to 18% among women. We present a series of hip stress fractures in young male military men with progressive training of 8 hours a day over a period of 14 weeks. RESULTS: Mean age 19.72 years, 4 transcervical and 7 basicervical fractures, 6 displaced and 5 no, 54.5 % right. All treated with osteosynthesis, DHHS (blockable compression plate system with hip spiral blade) in 3, cannulated screws in 3 and the proximal femoral fixation system with trochanteric nail (TFN) in five patients. The only common factor in all of them was intensive military training, pathology of metabolic or endocrine origin was ruled out. Onset of symptomatology measured in weeks with an average of 5. All patients had a delay in diagnosis with an average of 12.09 days at the time of definitive diagnosis. CONCLUSION: The diagnosis in stress fractures should be made based on clinical suspicion since the pain is insidious and in the report of the current condition patients fail to identify an exact moment as the onset of injury. The functional results were good and all of them managed to finish their military training.

INTRODUCCIÓN: Las fracturas por estrés son lesiones comunes en la población militar, inician con la imposición de esfuerzo repetitivo y excesivo al hueso. Esto conduce a la aceleración de la remodelación del hueso, la producción de microfracturas. La incidencia durante su entrenamiento básico de combate es de 0.8 a 5.1% para hombres comparado contra 1.1 a 18% entre mujeres. Presentamos una serie de fracturas por estrés de cadera en jóvenes militares masculinos con entrenamiento progresivo de ocho horas al día durante un período de 14 semanas. RESULTADOS: Media de edad 19.72 años, cuatro fracturas transcervicales y siete basicervicales, seis desplazadas y cinco no, 54.5% derechas. Todos tratados con osteosíntesis, sistema de placa de compresión bloqueable con hoja espiral de cadera (DHHS) en tres, tornillos canulados en tres y el sistema de fijación femoral proximal con clavo trocantérico (TFN) en cinco pacientes. El único factor común en todos ellos fue el entrenamiento militar intensivo, se descartó patología de origen metabólico o endocrino. Inicio de la sintomatología medido en semanas con una media de 5. Todos los pacientes presentaron un retraso del diagnóstico con una media de 12.09 días en el momento del diagnóstico definitivo. CONCLUSIÓN: El diagnóstico en las fracturas por estrés debe realizarse con base en la sospecha clínica, ya que el dolor es insidioso y en el relato del padecimiento actual los pacientes no logran identificar un momento exacto como inicio de lesión. Los resultados funcionales fueron buenos y todos ellos lograron terminar su entrenamiento militar.

Environmental and Nutritional Determinants of Macular Pigment in a Mexican Population.

Purpose: The carotenoids lutein (L), zeaxanthin (Z), and meso-zeaxanthin deposit at the macula as macular pigment (MP) and provide visual benefits and protection against macular diseases. The present study investigated MP, its nutritional and environmental determinants, and its constituent carotenoids in serum from a Mexican sample, in healthy participants and with metabolic diseases. Additionally, we compared these variables with an Irish sample. Methods: MP was measured in 215 subjects from a rural community in Mexico with dual-wavelength autofluorescence imaging reported as MP optical volume (MPOV). Dietary intake and serum concentrations of L and Z were evaluated. Results: The mean MPOV was 8429 (95% confidence interval, 8060-8797); range. 1171-15,976. The mean L and Z serum concentrations were 0.25 ± 0.15 µmol/L and 0.09 ± 0.04 µmol/L, respectively. The MPOV was positively correlated with L and Z serum concentrations (r = 0.347; P < 0.001 and r = 0.311; P < 0.001, respectively), but not with L + Z dietary estimates. Subjects with daily sunlight exposure of more than 50% were found to have significantly higher MPOV than those with less than 50% (P = 0.005). MPOV and serum concentrations of L and Z were significantly higher in the Mexican sample compared with the Irish sample, but this difference was not reflected in dietary analysis. Conclusions: These new data from a Mexican sample provide evidence of the multifactorial interactions and environmental determinants of MP such as sunlight exposure and dietary patterns. These findings will be essential for future studies in Mexico for eye health, visual function, and ocular pathology.

Fracturas de cadera por estrés en hombres en entrenamiento militar / Stress hip fractures in men in military training

Resumen: Introducción: Las fracturas por estrés son lesiones comunes en la población militar, inician con la imposición de esfuerzo repetitivo y excesivo al hueso. Esto conduce a la aceleración de la remodelación del hueso, la producción de microfracturas. La incidencia durante su entrenamiento básico de combate es de 0.8 a 5.1% para hombres comparado contra 1.1 a 18% entre mujeres. Presentamos una serie de fracturas por estrés de cadera en jóvenes militares masculinos con entrenamiento progresivo de ocho horas al día durante un período de 14 semanas. Resultados: Media de edad 19.72 años, cuatro fracturas transcervicales y siete basicervicales, seis desplazadas y cinco no, 54.5% derechas. Todos tratados con osteosíntesis, sistema de placa de compresión bloqueable con hoja espiral de cadera (DHHS) en tres, tornillos canulados en tres y el sistema de fijación femoral proximal con clavo trocantérico (TFN) en cinco pacientes. El único factor común en todos ellos fue el entrenamiento militar intensivo, se descartó patología de origen metabólico o endocrino. Inicio de la sintomatología medido en semanas con una media de 5. Todos los pacientes presentaron un retraso del diagnóstico con una media de 12.09 días en el momento del diagnóstico definitivo. Conclusión: El diagnóstico en las fracturas por estrés debe realizarse con base en la sospecha clínica, ya que el dolor es insidioso y en el relato del padecimiento actual los pacientes no logran identificar un momento exacto como inicio de lesión. Los resultados funcionales fueron buenos y todos ellos lograron terminar su entrenamiento militar.

Abstract: Introduction: Stress fractures are common injuries in the military population, they begin with the imposition of repetitive and excessive effort on the bone. This leads to the acceleration of bone remodeling and production of microfractures. The incidence, during their basic combat training, is 0.8 to 5.1% for men compared to 1.1 to 18% among women. We present a series of hip stress fractures in young male military men with progressive training of 8 hours a day over a period of 14 weeks. Results: Mean age 19.72 years, 4 transcervical and 7 basicervical fractures, 6 displaced and 5 no, 54.5 % right. All treated with osteosynthesis, DHHS (blockable compression plate system with hip spiral blade) in 3, cannulated screws in 3 and the proximal femoral fixation system with trochanteric nail (TFN) in five patients. The only common factor in all of them was intensive military training, pathology of metabolic or endocrine origin was ruled out. Onset of symptomatology measured in weeks with an average of 5. All patients had a delay in diagnosis with an average of 12.09 days at the time of definitive diagnosis. Conclusion: The diagnosis in stress fractures should be made based on clinical suspicion since the pain is insidious and in the report of the current condition patients fail to identify an exact moment as the onset of injury. The functional results were good and all of them managed to finish their military training.

Bioecological aspects of triatomines and marsupials as wild Trypanosoma cruzi reservoirs in urban, peri-urban and rural areas in the Western Brazilian Amazon.

In the Amazon region, Trypanosoma cruzi transmission cycles involve a great diversity of Triatominae vectors and mammal reservoirs. Some Rhodnius spp. mainly inhabit palm trees that act as microhabitats for hosts and vectors. The current study aimed to describe aspects of the bio-ecology of the vectors and reservoirs of T. cruzi in relation to human populations resident near areas with large quantities of palm trees, in rural, peri-urban and urban collection environments, located in the Western Brazilian Amazon. Rhodnius pictipes and Didelphis marsupialis were respectively the most predominant vector and reservoir, with rates of 71% for R. pictipes and 96.5% for D. marsupialis. The vast majority of T. cruzi isolates clustered with TcI. The most prevalent haplotype was TcI COII1 (69.7%). Mauritia flexuosa and Attalea phalerata were the main ecological indicators of infestation by triatomines. Birds were the most common food source (27,71%). T. cruzi isolated from R. robustus has the haplotype HUM-13, previously detected in a chronic Chagas patient living in the same area. Our results demonstrate the relevance of this study, with the occurrence of elevated infection rates in animals, and suggest the importance of the Amazon zones where there is a risk of infection in humans.

Sex-related differences of fatty acid-binding protein 4 and leptin levels in atrial fibrillation.

AIMS: Adiposity plays a key role in the pathogenesis of atrial fibrillation (AF). Our aim was to study the sex differences in adipokines levels according to AF burden. METHODS AND RESULTS: Two independent cohorts of patients were studied: (i) consecutive patients with AF undergoing catheter ablation (n = 217) and (ii) a control group (n = 105). (i) Adipokines, oxidative stress, indirect autonomic markers, and leucocytes mRNA levels were analysed; (ii) correlation between biomarkers was explored with heatmaps and Kendall correlation coefficients; and (iii) logistic regression and random forest model were used to determine predictors of AF recurrence after ablation. Our results showed that: (i) fatty acid-binding protein 4 (FABP4) and leptin levels were higher in women than in men in both cohorts (P < 0.01). In women, FABP4 levels were higher on AF cohort (20 ± 14 control, 29 ± 18 paroxysmal AF and 31 ± 17 ng/mL persistent AF; P < 0.01). In men, leptin levels were lower on AF cohort (22 ± 15 control, 13 ± 16 paroxysmal AF and 13 ± 11 ng/mL persistent AF; P < 0.01). (ii) In female with paroxysmal AF, there was a lower acetylcholinesterase and higher carbonic anhydrase levels with respect to men (P < 0.05). (iii) Adipokines have an important role on discriminate AF recurrence after ablation. In persistent AF, FABP4 was the best predictor of recurrence after ablation (1.067, 95% confidence interval 1-1.14; P = 0.046). CONCLUSION: The major finding of the present study is the sex-based differences of FABP4 and leptin levels according to AF burden. These adipokines are associated with oxidative stress, inflammatory and autonomic indirect markers, indicating that they may play a role in AF perpetuation.

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.

Self-Management in Persons with Limb Loss: A Systematic Review.

BACKGROUND: Self-management is an integral component of managing long-term conditions and diseases. For a person with limb loss, this self-management process involves caring for the residual limb, the prosthesis, and the prosthetic socket-residual limb interface. Failure to properly self-manage can result in unwanted secondary complications such as skin breakdown, falls, or non-use of the prosthesis. However, there is little evidence on what self-management interventions are effective at preventing secondary complications. To understand the impact of self-management after the loss of a limb, it is necessary to determine what the current evidence base supports. OBJECTIVES: The purpose of this study is to examine the available literature on self-management interventions and/or outcomes for persons with limb loss and describe how it may impact residual limb health or prosthesis use. METHODOLOGY: A systematic review of multiple databases was carried out using a variety of search terms associated with self-management. The results were reviewed and selected based on the inclusion criteria: self-management interventions or direct outcomes related to self-management, which includes the skin integrity of the residual limb, problem-solving the fit of the prosthesis, and education in the prevention of secondary complications associated with prosthesis use. The Cincinnati Childrens' LEGEND (Let Evidence Guide Every New Decision) appraisal forms were used to analyze the articles and assign grades. FINDINGS: Out of the 40 articles identified for possible inclusion in this study, 33 were excluded resulting in seven articles being selected for this review. Three out of the seven articles focused on silicone liner management while the other four articles focused on skin issues. CONCLUSIONS: Self-management for a person with limb loss is a key component of preventing complications associated with loss of limb and prosthesis use. There is a lack of high-quality experimental studies exploring the most appropriate intervention for teaching self-management when compared to other conditions, specifically diabetes. Further research in the area of self-management is necessary to understand how to best prevent unwanted secondary complications.

Prevalence of autosomal dominant polycystic kidney disease in Persian and Persian-related cats in Brazil / Prevalência da doença renal policística autossômica dominante em gatos Persas e raças relacionadas no Brasil

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disease in cats. However, scarce data on its prevalence are available in Brazil. Persian cats and Persian-related breeds were assessed by molecular genotyping for a C to A transversion in exon 29 of PKD1 gene to determine ADPKD prevalence in a Brazilian population. Genomic DNA extracted from peripheral whole blood or oral swabs samples was used to amplify exon 29 of PKD1 gene employing a PCR-RFLP methodology. From a total of 616 animals, 27/537 Persian and 1/17 Himalayan cats showed the single-nucleotide variant (C to A) at position 3284 in exon 29 of feline PKD1. This pathogenic variation has been identified only in heterozygous state. The prevalence of ADPKD in Persian cats and Persian-related breeds was 5.03% and 1.6%, respectively. There was no significant association between feline breed, gender or age with ADPKD prevalence. Of note, the observed ADPKD prevalence in Persian cats and Persian-related breeds in Brazil was lower than the ones reported in other parts of the world. This finding may be related to genetic counseling and consequent selection of ADPKD-free cats for reproduction.

A doença renal policística autossômica dominante (DRPAD) é a doença genética mais comum em gatos. No entanto, poucos dados sobre sua prevalência estão disponíveis no Brasil. Gatos Persas e de raças relacionadas foram avaliados por genotipagem molecular para a transversão C→A no exon 29 do gene PKD1 felino para determinar a prevalência de DRPAD. DNA genômico extraído de sangue total periférico ou amostras de swabs orais foram utilizados para amplificar o exon 29 do gene PKD1 pela técnica de PCR-RFLP. De um total de 616 gatos, 27/537 Persas e 1/17 Himalaia mostraram a variante de nucleotídeo único (C→A) na posição 3284 no exon 29 do gene PKD1. Esta variante patogênica foi identificada apenas em heterozigose. A prevalência de DRPAD em gatos Persas e raças relacionadas foram de 5,03% e 1,6%, respectivamente. Não houve associações significativas entre raça, gênero ou idade dos felinos e incidência de DRPAD. A prevalência de DRPAD em gatos Persas e raças relacionadas no Brasil foi menor do que em outras partes do mundo, o que pode estar relacionado ao aconselhamento genético e consequente seleção de gatos sem ADPKD para reprodução.