Tag: pubmed

Diabetol Metab Syndr. 2021 Aug 26;13(1):90. doi: 10.1186/s13098-021-00710-y.

ABSTRACT

BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is one of the most common chronic liver diseases; however, there has been little research into its impact on gestational diabetes mellitus (GDM).

METHODS: This study included 308,095 women registered in the Korean National Health Insurance Service database, who delivered between 2011 and 2015 and received a health examination within 52 weeks before pregnancy. Insulin-requiring GDM was defined as no insurance claims for diabetes mellitus and a fasting blood glucose level of < 126 mg/dL before pregnancy, and initiation of insulin treatment during pregnancy. A fatty liver index (FLI) was calculated using body mass index, waist circumference, and blood triglyceride and γ-glutamyl transferase levels. FLI scores < 30 ruled out hepatic steatosis, while FLI scores ≥ 60 indicated NAFLD.

RESULTS: The prevalence of NAFLD was 0.8% (2355/308,095) and 1984 (0.6%) subjects developed insulin-requiring GDM. FLIs of 30-59 and ≥ 60 were significantly associated with increased risk of insulin-requiring GDM (odds ratio [OR] 3.50; 95% confidence interval [CI] 2.99-4.10; OR 4.19; 95% CI 3.37-5.23), respectively. Further exploration of the association of FLI with GDM across FLI decile categories revealed a steady increase in OR across the categories. The association was more prominent among those without metabolic syndrome.

CONCLUSION: NAFLD in women is an independent risk factor for insulin-requiring GDM.

PMID:34446090 | DOI:10.1186/s13098-021-00710-y

Genome Med. 2021 Aug 26;13(1):136. doi: 10.1186/s13073-021-00917-8.

ABSTRACT

BACKGROUND: Sleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, we performed the first whole-genome sequence analysis of sleep-disordered breathing.

METHODS: The study sample was comprised of 7988 individuals of diverse ancestry. Common-variant and pathway analyses included an additional 13,257 individuals. We examined five complementary traits describing different aspects of sleep-disordered breathing: the apnea-hypopnea index, average oxyhemoglobin desaturation per event, average and minimum oxyhemoglobin saturation across the sleep episode, and the percentage of sleep with oxyhemoglobin saturation < 90%. We adjusted for age, sex, BMI, study, and family structure using MMSKAT and EMMAX mixed linear model approaches. Additional bioinformatics analyses were performed with MetaXcan, GIGSEA, and ReMap.

RESULTS: We identified a multi-ethnic set-based rare-variant association (p = 3.48 × 10^-8) on chromosome X with ARMCX3. Additional rare-variant associations include ARMCX3-AS1, MRPS33, and C16orf90. Novel common-variant loci were identified in the NRG1 and SLC45A2 regions, and previously associated loci in the IL18RAP and ATP2B4 regions were associated with novel phenotypes. Transcription factor binding site enrichment identified associations with genes implicated with respiratory and craniofacial traits. Additional analyses identified significantly associated pathways.

CONCLUSIONS: We have identified the first gene-based rare-variant associations with objectively measured sleep-disordered breathing traits. Our results increase the understanding of the genetic architecture of sleep-disordered breathing and highlight associations in genes that modulate lung development, inflammation, respiratory rhythmogenesis, and HIF1A-mediated hypoxic response.

PMID:34446064 | DOI:10.1186/s13073-021-00917-8

World J Surg Oncol. 2021 Aug 26;19(1):253. doi: 10.1186/s12957-021-02374-4.

ABSTRACT

BACKGROUND: The impact of primary tumour location on the prognosis of patients with peritoneal metastasis (PM) arising from colorectal cancer (CRC) after cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) is rarely discussed, and the evidence is still limited.

METHODS: Patients with PM arising from CRC treated with CRS and HIPEC at the China National Cancer Center and Huanxing Cancer Hospital between June 2017 and June 2019 were systematically reviewed. Clinical characteristics, pathological features, perioperative parameters, and prognostic data were collected and analysed.

RESULTS: A total of 70 patients were divided into two groups according to either colonic or rectal origin (18 patients in the rectum group and 52 patients in the colon group). Patients with PM of a colonic origin were more likely to develop grade 3-4 postoperative complications after CRS+HIPEC (38.9% vs 19.2%, P = 0.094), but this difference was not statistically significant. Patients with colon cancer had a longer median overall survival (OS) than patients with rectal cancer (27.0 vs 15.0 months, P = 0.011). In the multivariate analysis, the independent prognostic factors of reduced OS were a rectal origin (HR 2.15, 95% CI 1.15-4.93, P = 0.035) and incomplete cytoreduction (HR 1.99, 95% CI 1.06-4.17, P = 0.047).

CONCLUSION: CRS is a complex and potentially life-threatening procedure, and we suggest that the indications for CRS+HIPEC in patients with PM of rectal origin be more restrictive and that clinicians approach these cases with caution.

PMID:34446046 | DOI:10.1186/s12957-021-02374-4

Diabetes Metab Syndr. 2021 Aug 21;15(5):102259. doi: 10.1016/j.dsx.2021.102259. Online ahead of print.

ABSTRACT

AIMS: Monogenic diabetes is an underdiagnosed type of diabetes mellitus, which can be harmful in pregnancy. We aim to estimate the prevalence of diabetes caused by the mutation of the glucokinase gene (GCK-MODY) in pregnant women diagnosed with gestational diabetes mellitus (GDM) and to characterize pregnant women with this suspicion.

METHODS: A multicenter observational study with data prospectively collected from pregnancies with GDM was conducted. Two groups of pregnant women were considered: those with GCK-MODY criteria and those without those criteria.

RESULTS: Of 18421 women with GDM, 3.6% (n = 730) had the GCK-MODY clinical criteria. A prevalence of 1.5% of GCK-MODY is estimated in women with GDM in Portugal, which is higher than in Northern European countries. Suspected GCK-MODY women had statistically higher odds of having neonates below the 25th percentile (OR = 1.23, 95%CI = 1.04-1.46, p = 0.016) and having prediabetes and diabetes in postpartum reclassification (OR = 2.11, 95%CI = 1.55-2.82, p < 0.001 and OR = 5.96, 95%CI = 3.38-10.06, p < 0.001, respectively).

CONCLUSIONS: Higher odds of neonates below the 25th percentile was probably due to excessive insulin treatment in cases where both the mother and the fetus have the mutation. It is essential to consider the diagnosis of GCK-MODY in all women with GDM criteria for better management of diabetes in pregnancy.

PMID:34438359 | DOI:10.1016/j.dsx.2021.102259

Immun Inflamm Dis. 2021 Aug 26. doi: 10.1002/iid3.517. Online ahead of print.

ABSTRACT

INTRODUCTION: This study aims to investigate in-hоsрitаl mоrtаlity in severe асute resрirаtоry syndrоme соrоnаvirus 2 раtients strаtified by serum ferritin levels.

METHODS: Patients were stratified based on ferritin levels (ferritin levels ≤ 1000 or >1000).

RESULTS: Approximately 89% (118) of the patients with ferritin levels > 1000 had pneumonia, and 51% (67) had hypertension. Fever (97, 73.5%) and shortness of breath (80, 61%) were two major symptoms among the patients in this group. Logistic regression analysis indicated that ferritin level (odds ratio [OR] = 0.36, 95% confidence interval [CI] = 0.21-0.62; p < .001), male sex (OR = 2.63, 95% CI = 1.43-5.06; p = .003), hypertension (OR = 4.16, 95% CI = 2.42-7.36; p < .001) and pneumonia (OR = 8.48, 95% CI = 3.02-35.45; p < .001) had significance in predicting in-hospital mortality. Additionally, the Cox proportional hazards analysis and Kaplan-Meier survival probability plot showed a higher mortality rate among patients with ferritin levels > 1000.

CONCLUSION: In this study, higher levels of serum ferritin were found to be an independent predictor of in-hоsрitаl mоrtаlity.

PMID:34438471 | DOI:10.1002/iid3.517

J Hum Evol. 2021 Aug 23;159:103050. doi: 10.1016/j.jhevol.2021.103050. Online ahead of print.

ABSTRACT

The foot has played a prominent role in evaluating early hominin locomotion. The calcaneus, in particular, plays an important role in weight-bearing. Although the calcanei of early hominins have been previously scrutinized, a three-dimensional analysis of the entire calcaneal shape has not been conducted. Here, we investigate the relationship between external calcaneal shape and locomotion in modern Homo sapiens (n = 130), Gorilla (n = 86), Pan (n = 112), Pongo (n = 31), Papio (n = 28), and hylobatids (Hylobates, Symphalangus; n = 32). We use these results to place the calcanei attributed to Australopithecus sediba, A. africanus, A. afarensis, H. naledi, and Homo habilis/Paranthropus boisei into a locomotor context. Calcanei were scanned using either surface scanning or micro-CT and their external shape analyzed using a three-dimensional geometric morphometric sliding semilandmark analysis. Blomberg’s K statistic was used to estimate phylogenetic signal in the shape data. Shape variation was summarized using a principal components analysis. Procrustes distances between all taxa as well as distances between each fossil and the average of each taxon were calculated. Blomberg’s K statistic was small (K = 0.1651), indicating weak phylogenetic effects, suggesting variation is driven by factors other than phylogeny (e.g., locomotion or body size). Modern humans have a large calcaneus relative to body size and display a uniquely convex cuboid facet, facilitating a rigid midfoot for bipedalism. More arboreal great apes display relatively deeper cuboid facet pivot regions for increased midfoot mobility. Australopithecus afarensis demonstrates the most human-like calcaneus, consistent with obligate bipedalism. Homo naledi is primarily modern human-like, but with some intermediate traits, suggesting a different form of bipedalism than modern humans. Australopithecus africanus, A. sediba, and H. habilis/P. boisei calcanei all possess unique combinations of human and nonhuman ape-like morphologies, suggesting a combination of bipedal and arboreal behaviors.

PMID:34438297 | DOI:10.1016/j.jhevol.2021.103050

J Environ Manage. 2021 Aug 23;299:113550. doi: 10.1016/j.jenvman.2021.113550. Online ahead of print.

ABSTRACT

Water quality monitoring programs have been widely implemented worldwide to monitor and assess water quality and to understand its trends. However, water quality analysis based on point-source field observations is difficult to perform at large spatial and temporal scales. In this paper, a fully automated Google Earth Engine (GEE) application algorithm was developed to estimate the total suspended solids (TSS) concentration in the Chesapeake Bay based on the Moderate Resolution Imaging Spectroradiometer (MODIS) Terra imagery. Combining long-term archived satellite data (2002-2020) with field observations, the concentrations and spatiotemporal patterns of TSS in the bay water were evaluated. Time series analysis showed a statistically significant decreasing trend in TSS concentration between 2002 and 2020, suggesting that the sediment concentration in the bay has gradually been decreasing over the last two decades. The decreasing trend was observed in 49 out of 60 segments of the bay, implying that substantial progress has been made toward attaining the Chesapeake Bay water quality standards. Based on the monthly TSS analysis, 12 major peak events of TSS were identified in the Chesapeake Bay, which coincided with extreme winter blizzards and summer hurricane events. The GEE application and the results presented herein complement the existing monitoring program in attaining the water quality standards of the bay.

PMID:34438312 | DOI:10.1016/j.jenvman.2021.113550

Gait Posture. 2021 Jul 24;90:106-111. doi: 10.1016/j.gaitpost.2021.07.015. Online ahead of print.

ABSTRACT

BACKGROUND: While gait termination is challenging for children with spastic cerebral palsy (CCP), few studies have quantitatively assessed this issue.

RESEARCH QUESTION: What are the characteristics of center of mass (COM) and center of pressure (COP) displacement during gait termination in CCP, and how do they compare with those in children with typical development (CTD)?

METHODS: This cross-sectional study included 13 adults with typical development (19.85 ± 0.52 years), 12 CTD (10.41 ± 2.98 years), and 16 CCP (11.15 ± 2.71 years). Participants were instructed to immediately stop walking when a stop sign appeared on a screen, which was placed at the end of an 8-m walkway. COM and COP were determined via 3-dimensional motion analysis and force plate data. Differences between the groups were assessed using the two sample t-test or Wilcoxon rank sum test. The level of statistical significance was set at P < 0.05.

RESULTS: The normalized time for stopping in CCP (4.556 ± 0.602) was higher than that in CTD (3.617 ± 0.545, P < 0.001). The normalized COP displacement (P < 0.001) and divergence between COM and COP (P < 0.001) in the mediolateral (ML) direction were significantly higher in CCP than CTD. However, the normalized divergence between COM and COP in the anteroposterior (AP) direction in CCP was lower than that in CTD (P = 0.034).

SIGNIFICANCE: The more minor divergence between COM and COP in the AP direction and the more significant COP displacement in the ML direction cause difficulty to exert braking force during gait termination. Thus, CCP require a longer time for gait termination. This finding may facilitate the development of interventions for improving gait in CCP.

PMID:34438291 | DOI:10.1016/j.gaitpost.2021.07.015

Colloids Surf B Biointerfaces. 2021 Aug 19;208:112053. doi: 10.1016/j.colsurfb.2021.112053. Online ahead of print.

ABSTRACT

Solution acidification exists under some physiological conditions (e.g. lysosomes in cells) and diseases (e.g. atherosclerosis, tumors, etc.). It is poorly understood whether and how acidification influences the size and biomechanical (stiffness and stickiness) properties of native Low-density lipoprotein (LDL) and its oxidized form (oxLDL) which plays a vital role in atherogenesis and tumorigenesis. Atomic force microscopy (AFM) evaluated that gradient acidification from pH 7.4 to pH 4.4 caused an expanding-first-and-then-shrinking decrease in size and a dramatic decrease in stiffness (but no statistically significant changes in stickiness) of LDL/oxLDL particles by influencing secondary/tertiary structures and lipid release detected by infrared spectral analysis and cholesterol detection, respectively. The smaller and softer characteristics of LDL/oxLDL at acidic conditions versus at the neutral pH partially explains the atherogenic role of acidification. The data may provide important information for a better understanding of LDL/oxLDL and some diseases (e.g. atherosclerosis and tumors).

PMID:34438294 | DOI:10.1016/j.colsurfb.2021.112053

ESMO Open. 2021 Aug 23;6(5):100236. doi: 10.1016/j.esmoop.2021.100236. Online ahead of print.

ABSTRACT

BACKGROUND: In this study, we evaluated the association between genetic polymorphisms of 23 genes associated with gemcitabine metabolism and the clinical efficacy of gemcitabine in breast cancer patients.

PATIENTS AND METHODS: This prospective, pharmacogenetic study was conducted in cooperation with a phase II clinical trial. A total of 103 genetic polymorphisms of the 23 genes involved in gemcitabine transport and metabolism were selected for genotyping. The associations of genetic polymorphisms with overall survival, progression-free survival (PFS), and 6-month PFS were analyzed.

RESULTS: A total of 91 breast cancer patients were enrolled in this study. In terms of 6-month PFS, rs1044457 in CMPK1 was the most significant genetic polymorphism [55.9% for CT and TT and 78.9% for CC, P < 0.001, hazard ratio (HR): 4.444, 95% confidence interval (CI): 1.905-10.363]. For the rs693955 in SLC29A1, the median duration of PFS was 5.4 months for AA and 10.5 months for CA and CC (P = 0.002, HR: 3.704, 95% CI: 1.615-8.497). For the rs2807312 in TLE4, the median duration of PFS was 5.7 months for TT and 10.4 months for CT and CC (P = 0.005, HR: 4.948, 95% CI: 1.612-15.190). In survival analysis with a multi-gene model, the TT genotype of rs2807312 had the worst PFS regardless of other genetic polymorphisms, whereas the CA genotype of rs693955 or the CT genotype of rs2807312 without the AA genotype of rs693955 had the best PFS compared with those of other genetic groups (P < 0.001).

CONCLUSIONS: Genetic polymorphisms of rs1044457 in CMPK1, rs693955 in SLC29A1, and rs2807312 in TLE4 were significantly associated with the 6-month PFS rate and/or the duration of PFS. Further studies with a larger sample size and expression study would be helpful to validate the association of genetic polymorphisms and clinical efficacy of gemcitabine.

PMID:34438242 | DOI:10.1016/j.esmoop.2021.100236