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Impaired Muscle Mitochondrial Function in Familial Partial Lipodystrophy

J Clin Endocrinol Metab. 2021 Oct 6:dgab725. doi: 10.1210/clinem/dgab725. Online ahead of print.

ABSTRACT

BACKGROUND: Familial Partial Lipodystrophy (FPL), Dunnigan variety is characterized by skeletal muscle hypertrophy and insulin resistance besides fat loss from the extremities. The cause for the muscle hypertrophy, and its functional consequences is not known.

OBJECTIVE: To compare muscle strength and endurance, besides muscle protein synthesis rate between subjects with FPL and matched controls (n = 6 in each group). In addition, we studied skeletal muscle mitochondrial function and gene expression pattern to help understand the mechanisms for the observed differences.

METHODS: Body composition by DEXA, insulin sensitivity by minimal modelling, assessment of peak muscle strength and fatigue, skeletal muscle biopsy and calculation of muscle protein synthesis rate, mitochondrial respirometry, skeletal muscle transcriptome, proteome and gene set enrichment analysis.

RESULTS: Despite increased muscularity, FPL subjects did not demonstrate increased muscle strength but had earlier fatigue on chest press exercise. Decreased mitochondrial state 3 respiration in the presence of fatty acid substrate was noted, concurrent to elevated muscle lactate and decreased long-chain acylcarnitine. Based on gene transcriptome, there was significant down regulation of many critical metabolic pathways involved in mitochondrial biogenesis and function. Moreover, the overall pattern of gene expression was indicative of accelerated aging in FPL subjects. A lower muscle protein synthesis and down regulation of gene transcripts involved in muscle protein catabolism was observed.

CONCLUSION: Increased muscularity in FPL is not due to increased muscle protein synthesis and is likely due to reduced muscle protein degradation. Impaired mitochondrial function and altered gene expression likely explain the metabolic abnormalities and skeletal muscle dysfunction in FPL subjects.

PMID:34614176 | DOI:10.1210/clinem/dgab725

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A Mediterranean lifestyle and frailty incidence in older adults: the Seniors-ENRICA-1 cohort

J Gerontol A Biol Sci Med Sci. 2021 Oct 6:glab292. doi: 10.1093/gerona/glab292. Online ahead of print.

ABSTRACT

BACKGROUND: Frailty is a geriatric syndrome that entails high risk of hospitalization, disability, and death. While adherence to Mediterranean diet has been associated with lower risk of frailty, the joint effect of diet and lifestyle is uncertain. This study examined the association between a Mediterranean lifestyle (diet, customs, and traditions) and frailty incidence in older adults.

METHODS: We analyzed data from 1,880 individuals aged ≥ 60 from the prospective Seniors-ENRICA-1 cohort. Adherence to the Mediterranean lifestyle was assessed at baseline with the 27-item MEDLIFE index (higher scores representing better adherence), divided into three blocks: 1) “Mediterranean food consumption”, 2) “Mediterranean dietary habits” (practices around meals)” and 3) “Physical activity, rest, social habits and conviviality”. Frailty was ascertained as the presence of ≥ 3 of the 5 Fried criteria: a) Exhaustion; b) Muscle weakness; c) Low physical activity; d) Slow walking speed; e) Unintentional weight loss. Main statistical analyses were performed using logistic regression models, adjusting for the main confounders.

RESULTS: After a 3.3-y follow-up, 136 incident frailty cases were ascertained. Compared with participants in the lowest tertile of the MEDLIFE score, the OR (95% CI) for frailty was 0.88 (0.58-1.34) for the second tertile, and 0.38 (0.21-0.69) for the third tertile (p-trend = 0.003). Blocks 1 and 3 of the MEDLIFE score were independently associated with lower frailty risk. Most items within these blocks showed a tendency to reduced frailty.

CONCLUSIONS: Higher adherence to a Mediterranean lifestyle was associated with lower risk of frailty.

PMID:34614144 | DOI:10.1093/gerona/glab292

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Comparison of Two Ultra-Widefield Cameras With High Image Resolution and Wider View for Identifying Diabetic Retinopathy Lesions

Transl Vis Sci Technol. 2021 Oct 4;10(12):9. doi: 10.1167/tvst.10.12.9.

ABSTRACT

PURPOSE: To compare the effectiveness of the Optos P200dTx and Zeiss Clarus 500 fundus cameras in detecting diabetic retinopathy (DR) lesions.

METHODS: A cross-sectional study was conducted among 243 patients with clinically diagnosed diabetes mellitus who were referred for an eye examination from two tertiary eye care centers in Chennai, India. Patients underwent DR screening based on mydriatic fundal images acquired by both fundal cameras. Fundal images from the two separate devices for each eye were compared based on accurately identified pathological retinal lesions with respect to type and location.

RESULTS: When studying lesions of the central retina, they were better identified by the Zeiss Clarus compared with the Optos P200dTx, with six out of eight being statistically significant (P < 0.05). However, lesions of the mid-peripheral retina and peripheral retina were better identified by the Optos P200dTx than the Zeiss Clarus, with three out of eight lesions and five out of eight lesions being statistically significant (P < 0.05), respectively. Based on the color and size of lesions, the Optos P200dTx had a higher chance (59.6%) of missing white lesions than did the Zeiss Clarus (17%) (P < 0.0001). Consequently, small- and medium-sized lesions were missed more by the Optos P200dTx (30.72% and 32.63%, respectively) than the Zeiss Clarus (22.3% and 19.30%, respectively).

CONCLUSIONS: The capability of detecting or missing a particular DR lesion among diabetics differed between the two cameras based on effective field of view, resolution, and the retinal zone being imaged.

TRANSLATIONAL RELEVANCE: The choice of which ultra-widefield camera to be used for screening DR can be based on the greater prevalence of central versus peripheral retinal lesions noted in the patient population seen in a clinical practice.

PMID:34614162 | DOI:10.1167/tvst.10.12.9

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Hypothermia and neonatal morbimortality in very low birth weight preterm infants

Rev Paul Pediatr. 2021 Oct 4;40:e2020349. doi: 10.1590/1984-0462/2022/40/2020349. eCollection 2021.

ABSTRACT

OBJECTIVE: To assess the prevalence of hypothermia in the delivery room, at admission, and 2 to 3 hours after admission in the neonatal intensive care unit (NICU), factors associated and possible relationship with morbidity and mortality in preterm infants with very low birth weight (VLBW).

METHODS: Cross-sectional study with data collection based on a retrospective review of medical records and including infants born in 2016 and 2017, with birth weights <1500g, and gestational ages <34 weeks. Data about VLBW preterm infants, maternal data and temperature in the delivery room were analyzed. Hypothermia was considered when axillary temperature <36°C. For statistical analysis, the chi-square test or G test, canonical and Spearman correlation, and logistic regression were used.

RESULTS: 149 newborns (NB) were included in the study. The prevalence of hypothermia in delivery room, at admission to the NICU and 2 to 3 hours after admission was 25.8%, 41.5% and 40.2%, respectively. The temperature of NBs was directly proportional to gestational age (p<0.010), birth weight (p<0.010), and Apgar score (p<0.050). There was an inverse association with hypothermia in the delivery room and cesarean delivery (OR 0.25; p=0.016).

CONCLUSIONS: Hypothermia was a prevalent problem in the studied population. The neonatal temperature was directly proportional to gestational age, birth weight and Apgar score. Hypothermia was associated with maternal factors, such as cesarean delivery. It is necessary to implement and improve strategies for its prevention.

PMID:34614133 | DOI:10.1590/1984-0462/2022/40/2020349

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High waist-to-height ratio and associated factors in adolescents from a city in Southern Brazil: a cross-sectional study

Rev Paul Pediatr. 2021 Oct 4;40:e2020468. doi: 10.1590/1984-0462/2022/40/2020468. eCollection 2021.

ABSTRACT

OBJECTIVE: To verify the prevalence of abdominal obesity with the waist-to-height ratio (WHtR) and associated factors in adolescents from a city in Southern Brazil.

METHODS: A total of 960 adolescents (494 boys) aged 15-18 years old participated in this study. The dependent variable was WHtR; independent variables were self-reported age, economic level, sexual maturation, physical activity level, screen time, and body fat. Data were analyzed using descriptive statistics and logistic regression.

RESULTS: It was observed that 36.7% of the adolescents presented high WHtR (50.2% in girls and 23.9% in boys). Regardless of sex, adolescents with high body fat were more likely of having high WHtR (boys: Odds Ratio [OR] 29.79; 95% confidence interval [95%CI] 16.87-52.62; girls: OR 19.43; 95%CI 10.51-35.94). In girls, high WHtR was associated with age (OR 1.83; 95%CI 1.17-2.87), and in boys, with economic level (OR 2.34; 95%CI 1.01-5.45).

CONCLUSIONS: One in each three adolescents has abdominal obesity. Among adolescents with high body fat, girls aged 15-16 and boys with high-income are the groups most exposed to abdominal obesity.

PMID:34614141 | DOI:10.1590/1984-0462/2022/40/2020468

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Impact event and orofacial pain amid the COVID-19 pandemic in Brazil: a cross-sectional epidemiological study

J Appl Oral Sci. 2021 Oct 1;29:e20210122. doi: 10.1590/1678-7757-2021-0122. eCollection 2021.

ABSTRACT

OBJECTIVES: This study aims to assess the impact of social isolation, due to the Covid-19 pandemic, on mental health, Temporomandibular Disorder (TMD) and orofacial pain in men and women.

METHODOLOGY: Individuals living in Brazil answered an online questionnaire on their sociodemographic and behavioral aspects, emotional scale (DASS-21), Impact of Event Scale, and Pain Screener in Temporomandibular Disorders (TMD-Pain Screener) during June 2020. Descriptive statistical analyses and logistic and linear regressions were applied (5% significance).

RESULTS: Overall, 2301 individuals were included, 89.1% practiced social isolation, 72.6% were employed/studying, at least 15% presented severe or extremely severe levels of emotional distress and presence of powerful (34.1%) and severe impact event (15%). During the outbreak, 53.2% perceived feeling worse and 31.8% reported that orofacial pain started or worsened after the pandemic outbreak. Gender was associated with “social class” (P=0.036), “pain/stiffness in the jaw on awakening” (P=0.037), “change of pain during jaw habits” (P=0.034) and “perception of change in the situations mentioned in the TMD-Pain Screener” (P=0.020), “depression” (P=0.012), “anxiety” (P=0.006) and “impact of the event” (P=8.3E-11). Social isolation had a lesser chance to change the routine, to be practiced by the unemployed/not studying, and to be practiced by men (all with P<0.001). Associations were found between social class and all subscales of the DASS-21 and IES, all with P<0.001.

CONCLUSIONS: The practice of social isolation has social determinants. High levels of psychological and event impacts were detected. The presence of orofacial pain seemed to increase during the health crisis, and there were gender differences in the response to the COVID-19 pandemic.

PMID:34614122 | DOI:10.1590/1678-7757-2021-0122

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Frailty in the elderly: screening possibilities in Primary Health Care

Rev Bras Enferm. 2021 Oct 1;75(2):e20200973. doi: 10.1590/0034-7167-2020-0973. eCollection 2021.

ABSTRACT

OBJECTIVES: to evaluate two instruments for screening frailty in the elderly in Primary Health Care.

METHODS: this is an observational, cross-sectional study, with a quantitative approach, with 396 elderly people. SPSS software helped to perform the statistical analyses. The study used the kappa coefficient and Spearman’s correlation.

RESULTS: the kappa coefficient between the Clinical-Functional Vulnerability Index 20 and the Edmonton Frailty Scale was 0.496, considered moderate. There was a positive and significant correlation (r = 0.77; p < 0.001) between the frailty conditions and the total score of the two instruments.

CONCLUSIONS: when this article assessed fragility through the kappa coefficient, both instruments presented positive correlation and agreement. However, the identification of frailty was higher when it used the Edmonton Frailty Scale.

PMID:34614095 | DOI:10.1590/0034-7167-2020-0973

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Panorama de tres países latinoamericanos en problemas de voz relacionados con condiciones de trabajo

Codas. 2021 Sep 29;33(5):e20200304. doi: 10.1590/2317-1782/20202020304. eCollection 2021.

ABSTRACT

PURPOSE: To identify the normative framework on work-related voice disorders in three Latin American countries: Brazil, Chile and Colombia.

METHODS: Documentary research focused on regulations and statistics occupational voice in the three included countries.

RESULTS: In the three countries included there are normatives that regulate the relationship between work and vocal health.

CONCLUSION: Although previous research has reported the negative effect of adverse working conditions on vocal functioning, it is common for workers with vocal problems to continue working in these environments, which reduces their quality of life and increases associated costs. This study shows that there are limitations in the implementation of the regulations. Weaknesses detected in this study could benefit from multicenter investigations that strengthen speech therapy actions in prevention, promotion, diagnosis and rehabilitation.

PMID:34614110 | DOI:10.1590/2317-1782/20202020304

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Bicycle injuries presenting to the emergency department during COVID-19 lockdown

J Paediatr Child Health. 2021 Oct 6. doi: 10.1111/jpc.15775. Online ahead of print.

ABSTRACT

AIM: Since the start of the COVID-19 pandemic, there have been many changes in the presenting complaints in paediatric emergency departments (EDs). We sought to characterise the impact of the COVID-19 pandemic on bicycle-related injuries in children presenting to a tertiary care paediatric ED.

METHODS: We conducted a descriptive, cross-sectional study of ED visits to a large urban tertiary children’s hospital, comparing March to October 2020 (the study period) to the same date range 2 years prior (i.e. March to October 2018-2019). We included children 0-17.99 years presenting for a bicycle-related injury. We compared absolute visit counts of bike injuries per month, demographics, triage acuity, injury type and disposition.

RESULTS: A total of 1215 bike-related visits were analysed. There were 234 presentations in 2018 (March to October), 305 in 2019, and 676 in 2020. Overall, the mean age was 9.5 years (standard deviation 5.5-13.5), there were 67% males, median Canadian Emergency Department Triage and Acuity Scale score was 3 (interquartile range 3-4) and the most common injuries were fractures (n = 471, 38.8%). There were significantly more bike injuries presenting to the ED per month in the COVID group, 33.7(17.9) versus 84.5(61.4) (two-tailed P value = 0.041). There was no statistical difference in ‘severe injuries’ pre- versus post-COVID (odds ratio 0.815 (95% confidence interval 0.611-1.088), P = 0.165).

CONCLUSION: There was a significant increase in bicycle-related injuries presenting to our ED during the pandemic, compared to previous years. Evaluating these trends will allow for the exploration of harm reduction strategies for preventing future bicycle-related injuries.

PMID:34612571 | DOI:10.1111/jpc.15775

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Genetic Stratification of Age-Dependent Parkinson’s Disease Risk by Polygenic Hazard Score

Mov Disord. 2021 Oct 6. doi: 10.1002/mds.28808. Online ahead of print.

ABSTRACT

BACKGROUND: Parkinson’s disease (PD) is a highly age-related disorder, where common genetic risk variants affect both disease risk and age at onset. A statistical approach that integrates these effects across all common variants may be clinically useful for individual risk stratification. A polygenic hazard score methodology, leveraging a time-to-event framework, has recently been successfully applied in other age-related disorders.

OBJECTIVES: We aimed to develop and validate a polygenic hazard score model in sporadic PD.

METHODS: Using a Cox regression framework, we modeled the polygenic hazard score in a training data set of 11,693 PD patients and 9841 controls. The score was then validated in an independent test data set of 5112 PD patients and 5372 controls and a small single-study sample of 360 patients and 160 controls.

RESULTS: A polygenic hazard score predicts the onset of PD with a hazard ratio of 3.78 (95% confidence interval 3.49-4.10) when comparing the highest to the lowest risk decile. Combined with epidemiological data on incidence rate, we apply the score to estimate genetically stratified instantaneous PD risk across age groups.

CONCLUSIONS: We demonstrate the feasibility of a polygenic hazard approach in PD, integrating the genetic effects on disease risk and age at onset in a single model. In combination with other predictive biomarkers, the approach may hold promise for risk stratification in future clinical trials of disease-modifying therapies, which aim at postponing the onset of PD. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

PMID:34612543 | DOI:10.1002/mds.28808