Tag: pubmed

Am J Hum Genet. 2022 Feb 3:S0002-9297(22)00009-X. doi: 10.1016/j.ajhg.2022.01.009. Online ahead of print.

ABSTRACT

Genome-wide association studies (GWASs) have revolutionized human genetics, allowing researchers to identify thousands of disease-related genes and possible drug targets. However, case-control status does not account for the fact that not all controls may have lived through their period of risk for the disorder of interest. This can be quantified by examining the age-of-onset distribution and the age of the controls or the age of onset for cases. The age-of-onset distribution may also depend on information such as sex and birth year. In addition, family history is not routinely included in the assessment of control status. Here, we present LT-FH++, an extension of the liability threshold model conditioned on family history (LT-FH), which jointly accounts for age of onset and sex as well as family history. Using simulations, we show that, when family history and the age-of-onset distribution are available, the proposed approach yields statistically significant power gains over LT-FH and large power gains over genome-wide association study by proxy (GWAX). We applied our method to four psychiatric disorders available in the iPSYCH data and to mortality in the UK Biobank and found 20 genome-wide significant associations with LT-FH++, compared to ten for LT-FH and eight for a standard case-control GWAS. As more genetic data with linked electronic health records become available to researchers, we expect methods that account for additional health information, such as LT-FH++, to become even more beneficial.

PMID:35139346 | DOI:10.1016/j.ajhg.2022.01.009

Am J Obstet Gynecol. 2022 Feb 5:S0002-9378(22)00101-6. doi: 10.1016/j.ajog.2022.02.003. Online ahead of print.

ABSTRACT

BACKGROUND: The ARRIVE trial demonstrated the benefit of elective induction of labor at 39 weeks gestation. Obstetrics departments across the United States faced the conundrum of how best to adapt clinical practice in light of these data while managing logistical constraints.

OBJECTIVE: To determine if there were changes in obstetric practices and perinatal outcomes in the United States after the ARRIVE trial publication.

METHODS: This was a population based, retrospective cohort study of low-risk nulliparous women who initiated prenatal care by 12 weeks gestation with singleton, non-anomalous pregnancies that delivered at ≥ 39 weeks. Data were obtained from the US Natality database. The pre-ARRIVE group were women who delivered between January 1, 2015 and December 31, 2017. The post-ARRIVE group consisted of women who delivered between January 1 and December 31, 2019. Births that occurred in 2018 were excluded. Practice outcomes were rate of induction of labor, timing of delivery, and cesarean delivery rate. Adverse maternal outcomes were blood transfusion and admission to medical intensive care units (MICU). Adverse neonatal outcomes were need for assisted-ventilation (immediate and >6 hours), 5-minute APGAR score <3, neonatal intensive care unit (NICU) admission, seizures, and surfactant use. Univariate and multivariate analyses were performed. Trends were tested across the time period represented by the pre-ARRIVE group using Cochran-Armitage trend test.

RESULTS: There were 1,966,870 births in the pre-ARRIVE group and 609,322 in the post-ARRIVE group. The groups differed in age, race, body mass index, marital status, infertility treatment, and smoking history (p<0.001). After adjusting for these differences, the post-ARRIVE group was more likely to undergo induction (36.1% versus 30.2%; aOR=1.36 (1.36-1.37)) and deliver by 39+6 weeks of pregnancy (42.8% versus 39.9%; aOR=1.14 (1.14-1.15)). The post-ARRIVE group had a significantly lower rate of cesarean delivery than the pre-ARRIVE group (27.3 % versus 27.9%; aOR=0.94 (0.93-0.94)). Patients in the post-ARRIVE group were more likely to receive a blood transfusion (0.4% versus 0.3%; aOR=1.43 (1.36-1.50)), and be admitted to MICU (.09% versus .08%; aOR=1.20 (1.09-1.33)). Neonates in the post-ARRIVE group were more likely to need assisted ventilation at birth (3.5% versus 2.8%; aOR=1.28 (1.26-1.30)) and > 6 hours (0.6% versus 0.5%; aOR=1.36 (1.31-1.41)). The neonates in the post-ARRIVE group were more likely to have low 5-minute APGAR (0.4% versus 0.3%; aOR=0.91 (0.86-0.95)). NICU admission did not differ between the two groups (4.9% versus 4.9%; aOR=1.01 (0.99-1.03)). There were no differences in neonatal seizures (0.04% versus 0.04%; aOR=0.97 (0.84-1.13)), and surfactant use (0.08% versus 0.07%; aOR=1.05 (0.94-1.17)) between the two groups.

CONCLUSION: There were more inductions of labor, more deliveries at 39 weeks gestation, and fewer cesarean deliveries in the year after the ARRIVE trial publication. The small but statistically significant increase in some adverse maternal and neonatal outcomes should be explored to determine if there was a relationship with concurrent changes in obstetric practices.

PMID:35139334 | DOI:10.1016/j.ajog.2022.02.003

J Pediatr (Rio J). 2022 Feb 6:S0021-7557(22)00002-X. doi: 10.1016/j.jped.2021.12.008. Online ahead of print.

ABSTRACT

OBJECTIVE: Describe the epidemiology of deaths in children not submitted to CPR, compare to a CPR group and evaluate patients’ medical records of those not submitted to CPR.

METHODS: Observational cross-sectional study assessing deaths between 2015 and 2018 in a pediatric tertiary hospital, divided into two groups: CPR and no- CPR. The source of data included the cardiorespiratory arrest register, based on Utstein style. Children’s medical records in no-CPR group were researched by hand.

RESULTS: 241 deaths were included, 162 in CPR group and 79 in the no-CPR group. Preexisting diseases were observed in 98.3% of patients and prior advanced intervention in 78%. Of the 241 deaths, 212 (88%) occurred in the PICU, being 138/162 (85.2%) in CPR group and 74/79 (93.7%) in no-CPR group (p = 0.018). Bradycardia as the initial rhythm was five times more frequent in the CPR group (OR 5.06, 95% CI 1.94-13,19). There was no statistically significant difference regarding age, gender, preexisting diseases, and period of the day of the occurrence of death. Medical records revealed factors related to the family decision-making process or the suitability of therapeutic effort. Discrepancies between the practice of CPR and medical records were identified in 9/79 (11,4%) records allocated to the no-CPR group.

CONCLUSION: Most deaths with CPR and with the no-CPR occurred in the PICU. Bradycardia as the initial rhythm was five times more frequent in the CPR group. Medical records reflected the complexity of the decision not to perform CPR. Discrepancies were identified between practice and medical records in the no-CPR group.

PMID:35139342 | DOI:10.1016/j.jped.2021.12.008

Am J Manag Care. 2022 Feb 1;28(2):e35-e41. doi: 10.37765/ajmc.2022.88825.

ABSTRACT

OBJECTIVES: Procalcitonin (PCT) testing is FDA approved to guide antibiotic therapy in patients with lower respiratory tract infection (LRTI). However, its utilization and impact on real-world antibiotic prescribing behavior are unknown. We investigated the rate of PCT testing to evaluate an association between initial PCT level and antibiotic prescription patterns for patients with suspected LRTI within a large integrated health system.

STUDY DESIGN: Retrospective cohort study.

METHODS: A retrospective cohort study (January 1, 2016, through December 31, 2017) was performed in patients 18 years and older who were hospitalized with LRTI and had a PCT measurement. Antibiotic changes were noted before and 36 hours after initial PCT results. Antibiotic concordance was determined using a PCT cutoff value of 0.25 mcg/L. Concordance was defined as (1) patients received antibiotics after a PCT of at least 0.25 mcg/L resulted or (2) antibiotics were withheld after a PCT less than 0.25 mcg/L resulted.

RESULTS: PCT testing occurred in 18% of hospitalized patients with LRTI. Among 1606 patients, antibiotic concordance with PCT results was 55%. Among the discordant population, 77% of patients received antibiotics in the setting of a low PCT level compared with 23% who did not receive antibiotics at a high PCT level. There were no statistical differences between LRTI types between patients with PCT-discordant and PCT-concordant care.

CONCLUSIONS: Within a real-world environment of patients hospitalized with LRTI, PCT testing was low and the PCT levels did not appear to influence antibiotic prescribing behavior. Our findings suggest that clinicians continue to prioritize clinical judgment over initial PCT levels when prescribing antibiotics for suspected LRTIs.

PMID:35139294 | DOI:10.37765/ajmc.2022.88825

N Engl J Med. 2022 Feb 10;386(6):521-530. doi: 10.1056/NEJMoa2108337.

ABSTRACT

BACKGROUND: Controversy exists over the use of bone cement in hip fractures treated with hemiarthroplasty. Only limited data on quality of life after cemented as compared with modern uncemented hemiarthroplasties are available.

METHODS: We conducted a multicenter, randomized, controlled trial comparing cemented with uncemented hemiarthroplasty in patients 60 years of age or older with an intracapsular hip fracture. The primary outcome was health-related quality of life measured with the use of utility scores on the EuroQol Group 5-Dimension (EQ-5D) questionnaire at 4 months after randomization (range of scores, -0.594 to 1, with higher scores indicating better quality of life; range for minimal clinically important difference, 0.050 to 0.075).

RESULTS: A total of 610 patients were assigned to undergo cemented hemiarthroplasty and 615 to undergo modern uncemented hemiarthroplasty; follow-up data were available for 71.6% of the patients at 4 months. The mean EQ-5D utility score was 0.371 in patients assigned to the cemented group and 0.315 in those assigned to the uncemented group (adjusted difference, 0.055; 95% confidence interval [CI], 0.009 to 0.101; P = 0.02). The between-group difference at 1 month was similar to that at 4 months, but the difference at 12 months was smaller than that at 4 months. Mortality at 12 months was 23.9% in the cemented group and 27.8% in the uncemented group (odds ratio for death, 0.80; 95% CI, 0.62 to 1.05). Periprosthetic fractures occurred in 0.5% and 2.1% of the patients in the respective groups (odds ratio [uncemented vs. cemented], 4.37; 95% CI, 1.19 to 24.00). The incidences of other complications were similar in the two groups.

CONCLUSIONS: Among patients 60 years of age or older with an intracapsular hip fracture, cemented hemiarthroplasty resulted in a modestly but significantly better quality of life and a lower risk of periprosthetic fracture than uncemented hemiarthroplasty. (Funded by the National Institute for Health Research; WHiTE 5 ISRCTN number, ISRCTN18393176.).

PMID:35139272 | DOI:10.1056/NEJMoa2108337

J Strength Cond Res. 2022 Jan 5. doi: 10.1519/JSC.0000000000004186. Online ahead of print.

ABSTRACT

Thompson, SW, Lake, JP, Rogerson, D, Ruddock, A, and Barnes, A. Kinetics and kinematics of the free-weight back squat and loaded jump squat. J Strength Cond Res XX(X): 000-000, 2021-The aim of this study was to compare kinetics and kinematics of 2 lower-body free-weight exercises, calculated from concentric and propulsion subphases, across multiple loads. Sixteen strength-trained men performed back squat 1 repetition maximum (1RM) tests (visit 1), followed by 2 incremental back squat and jump squat protocols (visit 2) (loads = 0% and 30-60%, back squat 1RM). Concentric phase and propulsion phase force-time-displacement characteristics were derived from force plate data and compared using analysis of variance and Hedges’ g effect sizes. Intrasession reliability was calculated using intraclass correlation coefficient (ICC) and coefficient of variation (CV). All dependent variables met acceptable reliability (ICC >0.7; CV < 10%). Statistically significant 3-way interactions (load x phase x exercise) and 2-way main effects (phase x exercise) were observed for mean force, velocity (30-60% 1RM), power, work, displacement, and duration (0%, 30-50% 1RM) (p < 0.05). A significant 2-way interaction (load x exercise) was observed for impulse (p < 0.001). Jump squat velocity (g = 0.94-3.80), impulse (g = 1.98-3.21), power (g = 0.84-2.93), and work (g = 1.09-3.56) were significantly larger across concentric and propulsion phases, as well as mean propulsion force (g = 0.30-1.06) performed over all loads (p < 0.001). No statistically significant differences were observed for mean concentric force. Statistically longer durations (g = 0.38-1.54) and larger displacements (g = 2.03-4.40) were evident for all loads and both subphases (p < 0.05). Ballistic, lower-body exercise produces greater kinetic and kinematic outputs than nonballistic equivalents, irrespective of phase determination. Practitioners should therefore use ballistic methods when prescribing or testing lower-body exercises to maximize athlete’s force-time-displacement characteristics.

PMID:35138069 | DOI:10.1519/JSC.0000000000004186

Brain Behav. 2022 Feb 9:e2517. doi: 10.1002/brb3.2517. Online ahead of print.

ABSTRACT

BACKGROUND: To improve understanding of gender differences on quality of life (QoL) in patients with Parkinson’s disease (PWP) of a different race, the differences of clinical features and health-related quality of life (HRQoL) between male and female PWP were studied in a small cohort early to middle stage of Chinese PWP.

METHODS: A cross-sectional study was carried out. PWP were consecutively included from April 2020 to July 2021 in Beijing Rehabilitation Hospital. HRQoL, motor symptoms, and nonmotor symptoms in each patient were evaluated. The differences of demographic, motor symptoms assessments, nonmotor symptoms assessments, and QoL between two gender groups were tested using t-test statistics, Mann-Whitney-Wilcoxon test, or χ² depending on the data type. To eliminate the possible factors contributing to the QoL, linear regression models were constructed to sort out the effect of gender.

RESULTS: One hundred and sixty-two Parkinson’s disease (PD) patients were included. Demographic, clinical characteristics, and symptom scale assessments had no statistical differences except for levodopa equivalent daily dose, Hamilton Anxiety Rating Score, REM sleep behavior disorder sleep questionnaire, and Hyposmia Rating Scale score. After baseline imbalance corrections, a significantly higher score of PD Questionnaire-39 (PDQ-39) in female than in male patients(p<.05) was found. In the questionnaire, summary Index and bodily discomfort, stigma, and emotional well-being subscores were the main contribution differences.

CONCLUSIONS: Gender differences are associated with the QoL in the early to middle stage PWP in China. Female patients have poorer QoL than male patients, especially bodily discomfort, stigma, and emotional well-being.

PMID:35138047 | DOI:10.1002/brb3.2517

J Card Surg. 2022 Feb 9. doi: 10.1111/jocs.16297. Online ahead of print.

ABSTRACT

The retrospectively presented by Xu et al. assessed the value of the systemic immune-inflammation index (SII) in the prediction of short-term outcomes in patients undergoing surgery for acute type A aortic dissection (ATAAD). The authors concluded that SII is a reliable biomarker that can predict postoperative short-term outcomes and this marker could be potentially applied to stratification and patient selection with ATAAD. Although the study is retrospective, it is well-matched and conducted in a large volume center and the surgical technique was standard for all procedures. In addition, there was no statistical difference in cardiopulmonary bypass, aortic cross-clamp and deep hypothermic time, comorbidities, blood and blood products transfusion between the study groups. In addition, 90.7% of patients underwent elephant trunk technique for ATAAD repair, while the 30-day mortality and postoperative temporary and permanent neurological dysfunctions were 14.8% and 11.1%, respectively. Randomized controlled and prospective studies are warranted to clarify these well-documented results to apply this useful biomarker in clinical practice for patients with the acute aortic syndrome.

PMID:35137980 | DOI:10.1111/jocs.16297

J Intellect Disabil Res. 2022 Feb 9. doi: 10.1111/jir.12917. Online ahead of print.

ABSTRACT

BACKGROUND: Young adults with intellectual disability (ID) are experiencing early mortality, and it is suggested that they are living with undiagnosed cardiovascular and metabolic risk factors (hereafter referred to as cardiometabolic).

METHODS: We investigated the association between modifiable risk factors and cardiometabolic health profile in adults with ID aged 18-45 years through clinical evaluation of traditional cardiometabolic parameters, and assessment of physical activity levels, diet and associated health knowledge.

RESULTS: We found that young adults with ID have an increased obesity (mean body mass index; ID group: 32.9 ± 8.6 vs. control group: 26.2 ± 5.5, P = 0.001), are engaging in less physical activity than the age-matched general population (total activity minutes per week; ID group: 172.2 ± 148.9 vs. control group: 416.4 ± 277.1, P < 0.001), and overall have unhealthier diets. Additionally, knowledge about nutrition and physical activity appears to be an important predictor of cardiometabolic risk in this population. If young people with ID are to improve their cardiometabolic health to reduce morbidity and early mortality, we need to further explore how to consistently apply health messaging to get lasting behavioural change in this population.

PMID:35137997 | DOI:10.1111/jir.12917

Zoo Biol. 2022 Feb 9. doi: 10.1002/zoo.21683. Online ahead of print.

ABSTRACT

Recommendations for the successful management and maintenance of bachelor groups of western lowland gorillas (Gorilla gorilla gorilla) in zoological settings have been an increasingly prevalent focus within the zoological community. Over the past two decades, studies have examined the impact of various environmental factors on the stability of bachelor groups, proposed management strategies for bachelor groups, and compared behavioral trends between bachelor and mixed-sex groups. These studies have clearly demonstrated that bachelor groups are complex social units that require specialized management approaches. In this study, we aimed to assess the extent to which bachelor group management across North American zoos accredited by the Association of Zoos and Aquariums aligns with established recommendations. We distributed a comprehensive survey broadly encompassing habitat and housing, aggression and wounding, group demographics, feeding, and training to the 22 zoos housing bachelor groups as of 2019. We received completed surveys from 19 zoos, representing a total of 21 social units and 59 individual gorillas. We used descriptive statistics to represent the range of current management strategies across the surveyed population and ANOVAs to assess significant variation in key demographic variables. Our results demonstrate that a majority of zoos have adopted the best practices for the formation of social groups established by Stoinski et al. in 2004. However, there is much less standardization across zoos in protocols surrounding training and feeding. Additionally, important variables in the assessment of wounding, such as time of day and location, are often unknown or not observed by animal care professionals. We highlight these two areas as being of particular focus in developing and adhering to consistent protocols across institutions.

PMID:35137977 | DOI:10.1002/zoo.21683