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Pharmacogenetic analysis of inter-ethnic variability in the uptake transporter SLCO1B1 gene in Colombian, Mozambican, and Portuguese populations

BMC Med Genomics. 2023 Sep 1;16(1):207. doi: 10.1186/s12920-023-01642-4.

ABSTRACT

BACKGROUND: Statin-induced myopathy is reported to be associated with the solute carrier organic anion transporter family member 1B1 gene single nucleotide polymorphism, c.521 T > C. There is no epidemiologic data on this gene polymorphism in several countries. Therefore, this study aimed at assessing the genotype and allele frequencies of the gene variant in three countries.

METHODS: This study involved healthy individuals from Colombia, Mozambique, and Portugal. Genomic DNA was isolated from blood samples using the Qiamp DNA Extraction Kit (Qiagen). The isolated DNA was genotyped using novel Polymerase Chain Reaction-Restriction Fragment Length Polymorphism. Microstat and GraphPad QuickCal software were used for the Chi-square test and the evaluation of Hardy-Weinberg equilibrium respectively.

RESULTS: A total of 181 individuals’ blood samples were analyzed. Overall, the TT (74.0%) genotype was the highest and the CC (7.8%) was the lowest. Country wise genotypic frequencies were Colombia 47(70.2%) TT, 12(17.9%) TC and 8(11.9%) CC; Mozambique 47(88.7%) TT, 5(9.4%) TC, and 1(1.9%) CC; and Portugal 40(65.6%) TT, 16(26.2%) TC, and 5(8.2%) CC. The reference (T) allele was highest among Mozambicans (93.4%) compared to Colombians (79.1%) and Portuguese (78.7%). Mozambicans showed statistically significant genotypic and allelic frequency differences compared to Colombians (p < 0.01) and Portuguese (p < 0.01).

CONCLUSIONS: Overall and country-wise, CC genotype was less frequent and it is relatively high for Colombians and Portuguese populations. This finding may imply statins risk-benefit variability associated with CC genotype among these populations that needs further understanding.

PMID:37658350 | DOI:10.1186/s12920-023-01642-4

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Single knotless-anchor with two ethicon 2# for Ellman grade III bursal-side partial thickness rotator cuff tears: a cadaveric biomechanical study and short-term clinical evaluation

BMC Musculoskelet Disord. 2023 Sep 1;24(1):701. doi: 10.1186/s12891-023-06841-9.

ABSTRACT

BACKGROUND: Several surgical techniques are used to treat bursal-side partial thickness rotator cuff tears (PTRCTs). However, use of single knotless-anchor with two Ethicon 2# repair technique for PTRCTs has not been reported.

MATERIALS AND METHODS: Bursal-side PTRCTs (Ellman grade III, 75% thickness of tears) were created in the supraspinatus tendon in 16 fresh-frozen cadaveric shoulders. The specimens were randomly assigned to two equal groups: (1) Group A (Transtendon repair), a single knotless-anchor repair with two Ethicon 2#; (2) Group B, Conversion repair (Double-row, DR). Post-repair, each specimen was subjected to cyclic loading test from 5 to 100 N (50 cycles), followed by an ultimate failure test. The displacement of greater tuberosity (mm) and ultimate (N) were recorded. In the clinical study, 12 patients diagnosed with Ellman grade III Bursal-side PTRCTs (using a single knotless anchor with two Ethicon 2# repair techniques) were operated on and analyzed. Visual analog scale (VAS), American Shoulder and Elbow Surgeons Score (ASES), Constant-Murley Score (CMS), and range of motion (ROM) were assessed before surgery and at final minimum follow-up (>1year).

RESULTS: There was no significant between-group difference with respect to load-to-failure test (Group A, 359.25 ± 17.91 N; Group B, 374.38 ± 13.75 N, P > 0.05). There were no significant differences with respect to rotator cuff displacement of 10 mm (Group A, 190.50 ± 8.52 N; Group B, 197.25 ± 6.84 N, P > 0.05) and 15 mm (Group A, 282.25 ± 12.20 N; Group B, 291.13 ± 14.74 N, P > 0.05). However, there was significant between-group difference with respect to displacement of 3 and 5 mm (P < 0.05). In the clinical trial, all patients were followed up for an average of 20.4 months (12-29 months). At the last follow-up after surgery(minimum>1year), the VAS score was 0.50 ± 0.67 (0-2), the ASES score was 86.50 ± 3.96 (79-92), the CMS score was 85.08 ± 5.65 (74-93), the mean Forward flexion ROM was 154.00°± 12.48° (131°-169°), and the abduction ROM was 165.00°±13.26° (138°-173°). There was a statistically significant difference between the results of the preoperative and the last postoperative follow-up. The results of the last postoperative follow-up were statistically different from those of the preoperative follow-up (P < 0.05). Regarding complications, stiffness (2 cases) and shoulder impingement (1 case) occurred in 3 cases (25%).

CONCLUSION: A single knotless anchor with two Ethicon 2# may provide a biomechanically and clinically feasible option for the treatment of bursal-side Ellman grade III PTRCTs, particularly in resource-constrained settings.

MESH KEYWORDS: Bursal-side Ellman Grade III; Single Knotless-anchor; Double-row repair; Biomechanical study; Short-term clinical evaluation.

PMID:37658346 | DOI:10.1186/s12891-023-06841-9

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Data-driven decision-making for precision diagnosis of digestive diseases

Biomed Eng Online. 2023 Sep 1;22(1):87. doi: 10.1186/s12938-023-01148-1.

ABSTRACT

Modern omics technologies can generate massive amounts of biomedical data, providing unprecedented opportunities for individualized precision medicine. However, traditional statistical methods cannot effectively process and utilize such big data. To meet this new challenge, machine learning algorithms have been developed and applied rapidly in recent years, which are capable of reducing dimensionality, extracting features, organizing data and forming automatable data-driven clinical decision systems. Data-driven clinical decision-making have promising applications in precision medicine and has been studied in digestive diseases, including early diagnosis and screening, molecular typing, staging and stratification of digestive malignancies, as well as precise diagnosis of Crohn’s disease, auxiliary diagnosis of imaging and endoscopy, differential diagnosis of cystic lesions, etiology discrimination of acute abdominal pain, stratification of upper gastrointestinal bleeding (UGIB), and real-time diagnosis of esophageal motility function, showing good application prospects. Herein, we reviewed the recent progress of data-driven clinical decision making in precision diagnosis of digestive diseases and discussed the limitations of data-driven decision making after a brief introduction of methods for data-driven decision making.

PMID:37658345 | DOI:10.1186/s12938-023-01148-1

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Study protocol of an economic evaluation embedded in the Midwives and Obstetricians Helping Mothers to Quit Smoking (MOHMQuit) trial

BMC Health Serv Res. 2023 Sep 1;23(1):939. doi: 10.1186/s12913-023-09898-3.

ABSTRACT

BACKGROUND: Tobacco smoking during pregnancy is the most important preventable risk factor for pregnancy complications and adverse birth outcomes and can have lifelong consequences for infants. Smoking during pregnancy is associated with higher healthcare costs related to birth complications and during childhood. Psychosocial interventions to support pregnant women to quit are effective, yet provision of smoking cessation support has been inconsistent. The Midwives and Obstetricians Helping Mothers to Quit Smoking (MOHMQuit) intervention provides systems change, and leadership and clinician elements, to support clinicians to help women stop smoking in pregnancy. There have been few long-term analyses conducted of the cost-effectiveness of smoking cessation interventions for pregnant women that target healthcare providers. This protocol describes the economic evaluation of the MOHMQuit trial, a pragmatic stepped-wedge cluster-randomised controlled implementation trial in nine public maternity services in New South Wales (NSW), Australia, to ascertain whether MOHMQuit is cost-effective in supporting clinicians to help women quit smoking in pregnancy compared to usual care.

METHODS: Two primary analyses will be carried out comparing MOHMQuit with usual care from an Australian health care system perspective: i) a within-trial cost-effectiveness analysis with results presented as the incremental cost per additional quitter; and ii) a lifetime cost-utility analysis using a published probabilistic decision analytic Markov model with results presented as incremental cost per quality-adjusted life-year (QALY) gained for mother and child. Patient-level data on resource use and outcomes will be used in the within-trial analysis and extrapolated and supplemented with national population statistics and published data from the literature for the lifetime analysis.

DISCUSSION: There is increasing demand for information on the cost-effectiveness of implementing healthcare interventions to provide policy makers with critical information for the best value for money within finite budgets. Economic evaluation of the MOHMQuit trial will provide essential, policy-relevant information for decision makers on the value of evidence-based implementation of support for healthcare providers delivering services for pregnant women.

TRIAL REGISTRATIONS: ACTRN12622000167763, registered 2 February 2022.

PMID:37658343 | DOI:10.1186/s12913-023-09898-3

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Effects of the online and offline hybrid continuous group care on maternal and infant health: a randomized controlled trial

BMC Pregnancy Childbirth. 2023 Sep 1;23(1):629. doi: 10.1186/s12884-023-05882-1.

ABSTRACT

BACKGROUND: The group care is a well-established maternal care model that has been widely used in many developed countries, but in China, it is confined to prenatal care services. In addition, affected by traditional birth culture, Chinese women tend to focus more on their fetuses and newborns but lack attention to their own intrapartum and postpartum care. The aim of this study was to construct and implement a prenatal, intrapartum, and the postpartum continuous group care model that combines online and offline service in Hainan Province, China, and to evaluate the effect on maternal women and newborns.

METHODS: This study was a randomized controlled trial involving 144 pregnant women in a first-class tertiary general hospital in Hainan Province, China. Women were divided into an intervention group and a control group using the random number table, with 72 women in each group. The control group received routine maternal care services, and the intervention group received the continuous group care based on the routine maternal care services. Count data such as rate of cesarean section and incidence rate of fetal macrosomia were analyzed with the chi-square test or Fisher’s exact test, and the General Self-efficacy Scale scores were analyzed by repeated measures ANOVA. P < 0.05 was considered statistically significant, with two-sided probability values.

RESULTS: Compared with the control group, the rate of excessive prenatal weight gain, cesarean section, and 42-day postpartum depression were significantly lower in the intervention group (P < 0.05), and higher General Self-efficacy Scale scores (in the expectant period and 42 days postpartum) and exclusive breastfeeding rate (42 days postpartum) (P < 0.05). The incidence of fetal macrosomia was significantly lower in the intervention group (P < 0.05). But there was no significant difference in birth weight, preterm birth, the incidence of low-birth-weight infants and 1-min Apgar score (P > 0.05).

CONCLUSION: The continuous group care with online and offline service can effectively control the gestational weight gain, reduce the rate of cesarean section, macrosomia, and postpartum depression. It can improve the self-efficacy of women and the rate of exclusive breastfeeding effectively.

TRIAL REGISTRATION: Chinese Clinical Trial Regestry (ChiCTR2200065765, 04/11/2022, Retrospectively registered).

PMID:37658338 | DOI:10.1186/s12884-023-05882-1

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A protocol-based treatment for ruptured abdominal aortic aneurysm contributed to improving aorta-related mortality: a retrospective cohort study

BMC Cardiovasc Disord. 2023 Sep 1;23(1):436. doi: 10.1186/s12872-023-03473-8.

ABSTRACT

BACKGROUND: Recent guidelines state that improving the survival rate of patients with ruptured abdominal aortic aneurysm (rAAA) requires a protocol or algorithm for the emergency management of these patients. We aimed to investigate whether introducing a protocol treatment for rAAA improves clinical outcomes compared with the pre-protocol strategy.

METHODS: At our institution, 92 patients treated for rAAA between June 2008 and August 2022 were retrospectively analyzed. In 2014, the protocol-based treatment was introduced comprising a transfer algorithm to shorten the time to proximal control, use of an endovascular occlusion balloon, strict indications for endovascular aortic aneurysm repair (EVAR) or open surgical repair, and perioperative care, including for abdominal compartment syndrome (ACS). Clinical outcomes were compared between the protocol and pre-protocol group, including operative status, all-cause mortality, and rAAA-related death at 30-day, in-hospital, and 1-year postoperative follow-ups.

RESULTS: Overall, 52 and 40 patients received the protocol-based and pre-protocol treatments, respectively. EVAR was more frequently performed in the protocol group. The rate of achieving time to proximal control was significantly faster, and the transfusion volume was lower in the protocol group. ACS occurred more frequently in the protocol group with a higher EVAR. No difference was found in all-cause mortality between the two groups. The protocol group exhibited fewer rAAA-related deaths than the pre-protocol group during the following time points: 30 days (9.6% vs. 22.5%), during the hospital stay (11.5% vs. 30.0%), and 1 year (14.5% vs. 31.5%).

CONCLUSIONS: The protocol-based treatment improved the survival rate of patients with rAAA.

PMID:37658328 | DOI:10.1186/s12872-023-03473-8

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Holistic view of the seascape dynamics and environment impact on macro-scale genetic connectivity of marine plankton populations

BMC Ecol Evol. 2023 Sep 1;23(1):46. doi: 10.1186/s12862-023-02160-8.

ABSTRACT

BACKGROUND: Plankton seascape genomics studies have revealed different trends from large-scale weak differentiation to microscale structures. Previous studies have underlined the influence of the environment and seascape on species differentiation and adaptation. However, these studies have generally focused on a few single species, sparse molecular markers, or local scales. Here, we investigated the genomic differentiation of plankton at the macro-scale in a holistic approach using Tara Oceans metagenomic data together with a reference-free computational method.

RESULTS: We reconstructed the FST-based genomic differentiation of 113 marine planktonic taxa occurring in the North and South Atlantic Oceans, Southern Ocean, and Mediterranean Sea. These taxa belong to various taxonomic clades spanning Metazoa, Chromista, Chlorophyta, Bacteria, and viruses. Globally, population genetic connectivity was significantly higher within oceanic basins and lower in bacteria and unicellular eukaryotes than in zooplankton. Using mixed linear models, we tested six abiotic factors influencing connectivity, including Lagrangian travel time, as proxies of oceanic current effects. We found that oceanic currents were the main population genetic connectivity drivers, together with temperature and salinity. Finally, we classified the 113 taxa into parameter-driven groups and showed that plankton taxa belonging to the same taxonomic rank such as phylum, class or order presented genomic differentiation driven by different environmental factors.

CONCLUSION: Our results validate the isolation-by-current hypothesis for a non-negligible proportion of taxa and highlight the role of other physicochemical parameters in large-scale plankton genetic connectivity. The reference-free approach used in this study offers a new systematic framework to analyse the population genomics of non-model and undocumented marine organisms from a large-scale and holistic point of view.

PMID:37658324 | DOI:10.1186/s12862-023-02160-8

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A systematic review of the clinical impact of small colony variants in patients with cystic fibrosis

BMC Pulm Med. 2023 Sep 1;23(1):323. doi: 10.1186/s12890-023-02611-4.

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is a life-limiting disorder that is characterised by respiratory tract inflammation that is mediated by a range of microbial pathogens. Small colony variants (SCVs) of common respiratory pathogens are being increasingly recognised in CF. The aim of this systematic review is to investigate the prevalence of SCVs, clinical characteristics and health outcomes for patients with CF, and laboratory diagnostic features of SCVs compared to non-small colony variants (NCVs) for a range of Gram-positive and Gram-negative respiratory pathogens.

METHODS: A literature search was conducted (PubMed, Web of Science, Embase and Scopus) in April 2020 to identify articles of interest. Data pertaining to demographic characteristics of participants, diagnostic criteria of SCVs, SCV prevalence and impact on lung function were extracted from included studies for analysis.

RESULTS: Twenty-five of 673 studies were included in the systematic review. Individuals infected with SCVs of Staphylococcus aureus (S. aureus) were more likely to have had prior use of the broad-spectrum antibiotic trimethoprim sulfamethoxazole (p < 0.001), and the prevalence of SCVs in patients infected with S. aureus was estimated to be 19.3% (95% CI: 13.5% to 25.9%). Additionally, patients infected with SCVs of Gram-negative and Gram-positive pathogens were identified to have a lower forced expiratory volume in one second percentage predicted (-16.8, 95% CI: -23.2 to -10.4) than those infected by NCVs. Gram-positive SCVs were commonly described as small and non-haemolytic, grown on Mannitol salt or blood agar for 24 h at 35°C and confirmed using tube coagulase testing.

CONCLUSION: The findings of this systematic review demonstrate that SCVs of S. aureus have a high prevalence in the CF community, and that the occurrence of SCVs in Gram-positive and Gram-negative pathogens is linked to poorer respiratory function. Further investigation is necessary to determine the effect of infection by SCVs on the CF population.

PMID:37658311 | DOI:10.1186/s12890-023-02611-4

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The effect of cognitive behavioral counseling on anxiety and worry level of women with intermediate risk during first trimester screening for down syndrome: a randomized controlled trial: a randomized controlled trial

BMC Pregnancy Childbirth. 2023 Sep 1;23(1):630. doi: 10.1186/s12884-023-05857-2.

ABSTRACT

BACKGROUND: Anxiety related to prenatal screening programs negatively affects maternal and child health.

OBJECTIVE: The study aimed to determine the effect of Cognitive Behavioral Counseling on the anxiety and worry levels of women with intermediate risk during first-trimester screening for Down Syndrome.

METHODS: The study was a randomized controlled trial conducted on 52 pregnant women with intermediate risk (1: 51 – 1:1500) during first-trimester screening for Down Syndrome and without additional structural anomalies that referred to three cities of Zanjan province in 2021. The eligible women were randomly assigned to intervention and control groups, with a block size of four. The intervention group received CBC in four sessions of 120 min two times a week by phone. Data were collected using Vandenberg Anxiety Questionnaire, and Cambridge Worry Questionnaire in three phases baseline, after the intervention, and 6 weeks follow-ups. Data were analyzed using independent t-test, chi-square, and repeated measures ANOVA at a 95% confidence level. (P < 0.05).

RESULTS: In the counselling group, the mean (SD) of a total score of anxiety before the intervention was 67.11 (20.68) which decreased to 32.50 (13.58) in six weeks after the intervention. Furthermore, the mean (SD) of a total score of worry before the intervention was 56.19 (16.76) which decreased to 32.96 (8.89) six weeks after the intervention. Based on the repeated measures ANOVA test, the mean total score of anxiety and worry were statistically significant 6 weeks after the intervention compared with the control group(p < 0.001).

CONCLUSION: Based on the study results, CBC can reduce the anxiety and worry levels of women with intermediate risk during first trimester screening for Down Syndrome.

TRIAL REGISTRATION: The study was registered at the Iranian Registry of Clinical Trials website under the code IRCT20160608028352N8, ( https://en.irct.ir/trial/49998 ). The first trial registration date was (29/08/2020).

PMID:37658307 | DOI:10.1186/s12884-023-05857-2

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Vaccine Hesitancy: Developing Competency in Nursing Students Through Simulation

Nurse Educ. 2023 Sep 1. doi: 10.1097/NNE.0000000000001505. Online ahead of print.

ABSTRACT

BACKGROUND: Many Americans are undecided about or have barriers to receiving vaccines. Complacency, confidence, convenience, misinformation, and disinformation impact vaccine hesitancy (VH).

PROBLEM: During the COVID-19 pandemic, rates for flu and routine childhood vaccinations declined globally. As vaccination rates decline, the risk of disease outbreaks increases. Nursing students need to be prepared to address VH in the clinical setting.

APPROACH: Four simulation experiences were developed to build confidence and competency in the provision of vaccinations and addressing VH. Nursing students practiced communication skills critical to motivational interviewing, health education, health promotion, and goal setting.

OUTCOME: There were statistically significant increases in student confidence and perceived competence in vaccine administration and addressing VH through motivational interviewing.

CONCLUSIONS: High-fidelity simulation combined with a virtual simulation was effective in developing confidence among nursing students. Students demonstrated skill in addressing VH and motivational interviewing.

PMID:37657119 | DOI:10.1097/NNE.0000000000001505