Physiotherapy. 2022 May 19:S0031-9406(21)00389-8. doi: 10.1016/j.physio.2021.12.003. Online ahead of print.
NO ABSTRACT
PMID:35599069 | DOI:10.1016/j.physio.2021.12.003
Tag: pubmed
Brief Bioinform. 2022 May 23:bbac179. doi: 10.1093/bib/bbac179. Online ahead of print.
ABSTRACT
Sex-biased gene flow has been common in the demographic history of modern humans. However, the lack of sophisticated methods for delineating the detailed sex-biased admixture process prevents insights into complex admixture history and thus our understanding of the evolutionary mechanisms of genetic diversity. Here, we present a novel algorithm, MultiWaverX, for modeling complex admixture history with sex-biased gene flow. Systematic simulations showed that MultiWaverX is a powerful tool for modeling complex admixture history and inferring sex-biased gene flow. Application of MultiWaverX to empirical data of 17 typical admixed populations in America, Central Asia, and the Middle East revealed sex-biased admixture histories that were largely consistent with the historical records. Notably, fine-scale admixture process reconstruction enabled us to recognize latent sex-biased gene flow in certain populations that would likely be overlooked by much of the routine analysis with commonly used methods. An outstanding example in the real world is the Kazakh population that experienced complex admixture with sex-biased gene flow but in which the overall signature has been canceled due to biased gene flow from an opposite direction.
PMID:35598333 | DOI:10.1093/bib/bbac179
Dermatol Ther. 2022 May 22:e15593. doi: 10.1111/dth.15593. Online ahead of print.
ABSTRACT
BACKGROUND: Pustular psoriasis of pregnancy (PPP) can lead to life-threatening complications.
OBJECTIVES: To report clinical and genetic spectrum, prognostic factors and management options.
METHODS: We designed a retrospective study including 8 PPP patients. We collected clinical data, and performed genetic and statistical analysis to identify factors associated with fetal complications, resistance to treatment and post-partum flare extension. A systematic review of the literature was also carried out.
RESULTS: Eight Tunisian patients, with a mean age of 23±3.3 years, were included. They presented 14 flares (F) during pregnancies and 1 flare after delivery. Additional GPP flares outside pregnancy periods were noted in 2/8 of patients. The mean duration of PPP flares was 16.66±7.8 weeks. The first flare occurred at a gestational age of 26±5 weeks. Only 2/8 studied patients presented a homozygous mutation c.80T>C (p.L27P) in IL36RN gene. Used treatments were: Topical steroids (n=12F), systemic steroids (n=5F), Ciclosporin (n=1F), UVB (n=1F) and Acitretin (in post-partum n=6F). Complications were: oligoamnios (n=2), intra-uterine growth retardation (n=1), fetal death in utero (n=1), prematurity (n=3), low weight at birth (n=2). A significant association was found between: i- occurrence of fetal complications and early gestational age at the onset (p=0.036), ii- resistance to topical steroids and body surface affected area (p=0.008), iii- presence of mutation c.80T>C in PPP flares and low serum levels of calcium (p=0.01). Our systematic review of the literature identified 39 patients with 41 flares of PPP. Only 7/39 patients presented a causative mutation in IL36RN and CARD14 genes.
CONCLUSION: PPP is characterized by a phenotypic heterogeneity and can be associated to IL36RN mutations. Its early onset can be associated with fetal complications. Systemic steroids and cyclosporine remain the most used therapies. This article is protected by copyright. All rights reserved.
PMID:35598320 | DOI:10.1111/dth.15593
Brief Bioinform. 2022 May 23:bbac171. doi: 10.1093/bib/bbac171. Online ahead of print.
ABSTRACT
Many statistical methods for pathway analysis have been used to identify pathways associated with the disease along with biological factors such as genes and proteins. However, most pathway analysis methods neglect the complex nonlinear relationship between biological factors and pathways. In this study, we propose a Deep-learning pathway analysis using Hierarchical structured CoMponent models (DeepHisCoM) that utilize deep learning to consider a nonlinear complex contribution of biological factors to pathways by constructing a multilayered model which accounts for hierarchical biological structure. Through simulation studies, DeepHisCoM was shown to have a higher power in the nonlinear pathway effect and comparable power for the linear pathway effect when compared to the conventional pathway methods. Application to hepatocellular carcinoma (HCC) omics datasets, including metabolomic, transcriptomic and metagenomic datasets, demonstrated that DeepHisCoM successfully identified three well-known pathways that are highly associated with HCC, such as lysine degradation, valine, leucine and isoleucine biosynthesis and phenylalanine, tyrosine and tryptophan. Application to the coronavirus disease-2019 (COVID-19) single-nucleotide polymorphism (SNP) dataset also showed that DeepHisCoM identified four pathways that are highly associated with the severity of COVID-19, such as mitogen-activated protein kinase (MAPK) signaling pathway, gonadotropin-releasing hormone (GnRH) signaling pathway, hypertrophic cardiomyopathy and dilated cardiomyopathy. Codes are available at https://github.com/chanwoo-park-official/DeepHisCoM.
PMID:35598329 | DOI:10.1093/bib/bbac171
Eur J Pain. 2022 May 22. doi: 10.1002/ejp.1978. Online ahead of print.
ABSTRACT
BACKGROUND: Multisite musculoskeletal pain is common and disabling. This study aimed to prospectively investigate distribution of musculoskeletal pain anatomically, and explore risk factors for increases/reductions in the number of painful sites.
METHODS: Using data from participants working in 45 occupational groups in 18 countries, we explored changes in reporting pain at 10 anatomical sites on two occasions 14 months apart. We used descriptive statistics to explore consistency over time in the number of painful sites, and their anatomical distribution. Baseline risk factors for increases/reductions by ≥3 painful sites were explored by random intercept logistic regression that adjusted for baseline number of painful sites.
RESULTS: Amongst 8,927 workers, only 20% reported no pain at either time point, and 16% reported ≥3 painful sites both times. After 14 months, the anatomical distribution of pain often changed but there was only an average increase of 0.17 painful sites. Some 14% workers reported a change in painful sites by ≥ 3. Risk factors for an increase of ≥ 3 painful sites included female sex, lower educational attainment, having a physically demanding job, and adverse beliefs about the work-relatedness of musculoskeletal pain. Also predictive were: older age, somatising tendency, and poorer mental health (each of which was also associated with lower odds of reductions of ≥ 3 painful sites).
CONCLUSIONS: Longitudinally, the number of reported painful sites was relatively stable but the anatomical distribution varied considerably. These findings suggest an important role for central pain sensitisation mechanisms, rather than localised risk factors, among working adults.
PMID:35598315 | DOI:10.1002/ejp.1978
Cancer Med. 2022 May 22. doi: 10.1002/cam4.4839. Online ahead of print.
ABSTRACT
OBJECTIVES: Microinvasive breast cancer (MIBC) is a special type of breast cancer with a relatively low prevalence, of which the understanding remains controversial. In this article, we aimed to clarify the clinicopathological characteristics and prognosis of MIBC in the setting of different molecular subtypes and give feasible suggestions on clinical practice in MIBC.
METHODS: This study utilized the data from Surveillance, Epidemiology, and End Results (SEER) database. Patients were divided into subgroups based on the molecular subtypes, of which the clinicopathological characteristics were further undergone comparative analyses. Kaplan-Meier method and Cox proportional hazard regression analysis were employed to determine the prognosis of the subtypes, and to explore the prognostic factors. Patients were randomly assigned in a 7:3 ratio to the training and validation cohorts. The independent risk variables were then adopted to generate a nomogram to predict the 3- and 5-year survival probability.
RESULTS: A total of 4301 MIBC patients between 2010 and 2016 were obtained from the SEER database, which were subsequently separated into HR+/HER2- (n = 2598), HR+/HER2+ (n = 723), HR-/HER2+ (n = 633), and HR-/HER2- (n = 347) groups. The HR+/HER2+ group showed the best overall survival (OS) (81.28 months, 95% CI 80.45-82.11) compared with other groups (p = 0.0089). The application of radiotherapy in HR+/HER2- and HR+/HER2+ MIBC patients brought out additional survival benefit compared with those without radiotherapy (p < 0.0001 and p = 0.024, respectively). The prognosis among four subgroups with or without chemotherapy showed no statistical difference. Based on the curated nomogram, the high-score group exhibited a better OS compared with patients from the low-score group.
CONCLUSIONS: Profound heterogeneity was detected among different molecular subtypes in MIBC patients, of which HR+/HER2+ subtype presented the best prognosis. For HR-positive MIBC patients, increasing survival benefits could be retrieved from radiotherapy. Chemotherapy was not recommended for patients with MIBC. Individual-based protocols were introduced based on the nomogram which warranted further validation.
PMID:35598300 | DOI:10.1002/cam4.4839
Eur J Neurol. 2022 May 22. doi: 10.1111/ene.15413. Online ahead of print.
ABSTRACT
OBJECTIVES: To determine the extent of sudomotor dysfunction in people with neuromyelitis optica spectrum disorder (pwNMOSD) and to compare findings with a historical cohort of people with relapsing remitting multiple sclerosis (pwRRMS).
METHODS: We enrolled 48 pwNMOSD from four clinical centers. All participants completed the Composite Autonomic Symptom Score-31 (COMPASS-31) to screen for symptoms of sudomotor dysfunction. Sudomotor function was assessed using the quantitative sudomotor axon reflex test (QSART). The results were compared with a historical cohort of 35 pwRRMS matched for age, sex and disease duration.
RESULTS: symptoms of sudomotor dysfunction, defined by a score in the COMPASS-31 secretomotor domain >0, were present in 26 (54%) of pwNMOSD. The QSART-confirmed a sudomotor dysfunction in 25 (52.1%) of pwNMOSD; in 14 thereof (29.2%) sudomotor dysfunction was moderate or severe. No difference was observed between pwNMOSD and pwRRMS in any of the studied parameters. However, symptomatic sudomotor dysfunction was more frequent in pwNMOSD (n=8, 22.9%) compared to pwRRMS (n=1, 3%; p=0.028). In a multivariable logistic regression analysis, statistically significant predictors for symptomatic sudomotor failure were age and diagnosis of NMOSD.
CONCLUSIONS: Sudomotor dysfunction is common in pwNMOSD and more often symptomatic compared to pwRRMS.
PMID:35598288 | DOI:10.1111/ene.15413
J Orthop Res. 2022 May 22. doi: 10.1002/jor.25384. Online ahead of print.
ABSTRACT
To determine the cross-sectional and longitudinal associations of patella alignment with cartilage relaxation and patients’ self-reported symptoms. Thirty participants with isolated patellofemoral joint (PFJ) degeneration (6 males, 53.7 ± 9.3 years) and 24 controls (12 males, 47.6 ± 10.7 years) were included. Magnetic resonance assessment was performed to provide grading of structural abnormalities, cartilage relaxation times, and patella alignment. Self-reported symptoms were assessed using the self-administrated Knee Injury and Osteoarthritis Outcome Score (KOOS). All participants were examined at baseline and 3 years. Statistical parametric mapping and Pearson partial correlation were used to evaluate the associations between patella alignment with cartilage relaxation times and self-reported symptoms, respectively. The analyses were performed between baseline (cross-sectional) as well as baseline against 3 years (longitudinal). Results indicated that patella height and patella flexion were associated with T1ρ and T2 relaxation times at baseline (percentages of voxels showing significant correlation [PSV] = 10.1 to 24.8%; mean correlations [R] = 0.34 to 0.36; mean p values = 0.015 to 0.026). Further, greater patella lateral alignment, lateral tilt, and lateral spin were associated with longer T2 times at 3 years (PSV = 11.0 to 14.4%, R = 0.39 to 0.44, p = 0.017 to 0.028). Last, a higher patella was associated with a lower KOOS at baseline and at 3 years (R = -0.33 to -0.35). The study suggests that patella malalignment as a risk factor for worsening cartilage health, informing clinicians with a better rehabilitation program that targets PFJ degeneration. This article is protected by copyright. All rights reserved.
PMID:35598282 | DOI:10.1002/jor.25384
Eur Arch Otorhinolaryngol. 2022 May 22. doi: 10.1007/s00405-022-07452-1. Online ahead of print.
ABSTRACT
OBJECTIVE: A planning study was performed to evaluate dosimetric differences between intensity modulated radiation therapy (IMRT) and volumetric modulated arc therapy (VMAT) for head and neck cancer (HNC) for sequential boost (Seq-boost) and simultaneous integrated boost techniques (SIB).
METHODS: 30 patients with HNC were included, 15 treated with SIB and 15 with Seq-Boost. For all patients both VMAT and IMRT plans were completed. The planning objective for PTV was 95% of dose covering minimum 95% of PTV; for spinal cord and brainstem Dmax was limited to 45 Gy and 54 Gy respectively. The parotids had a mean dose < 26 Gy limitation. The number of monitor units (MU) were scored for treatment delivery time efficiency.
RESULTS: Both techniques achieved the set objectives regarding PTV coverage and organ sparing. SIB plans presented a statistically significant better homogeneity for VMAT (p = 0.0096), while Seq-boost showed a statistically significant better conformity for VMAT (p = 0.0049). For parotids only SIB plans showed a lower Dmean value obtained with VMAT, while Seq-boost plans showed statistically insignificant differences. For SIB plans the MU was reduced by 33.4% with VMAT, whereas in Seq-boost plans the reduction was by 19.1%.
CONCLUSION: VMAT shows dosimetric superiority to IMRT in some cases, however an adequate coverage of the target volumes and a suitable OAR sparing can be achieved with both techniques. Though IMRT is still the standard in HNC radiotherapy, VMAT can be safely implemented, offering at least similar target coverage and organ sparing, with significantly reduced MU.
PMID:35598230 | DOI:10.1007/s00405-022-07452-1
Curr Diabetes Rev. 2022 May 19. doi: 10.2174/1573399818666220519142118. Online ahead of print.
ABSTRACT
BACKGROUND: Self-care behaviours among diabetes patients is often hindered because of various psycho-social factors which become obstacles to their better diabetes management and its proper outcome. The current study aims to find out these psycho-social factors that influence the execution of self-care behaviours among Type II diabetes patients from the perspective of various behaviour change models.
METHODS: The study adopted a correlational research design. A total of 266 participants above the age group of 18 years and diagnosed with type 2 diabetes were selected using purposive sampling from the Indian state of Karnataka. The data were collected using The Health Belief Questionnaire, Theory of Planned Behaviour Questionnaire (TPBQ), Socio-Ecological Model Questionnaire, and Diabetic Self-Care Activities Revised (SDSCA-R). The data were analysed using descriptive statistics, Pearson product-moment correlation and multiple regression Results: From the findings, it was observed that the domains of perceived susceptibility, cues to action and subjective norms are positively correlated with self-care behaviours significantly at p<0.05 levels while the domains of socio-ecological theory Personal, Interpersonal, Media & Policy and Community organizations are significantly positively correlated with self-care behaviour at p<0.01 levels. The linear regression of the domains of health belief model, theory of planned behaviour and socio-ecological theory on self-care behaviour showed that the statistically significant final model explained 14.9% (R2 =.149), F (3,262) =15.337, p< 0.000. The significant predictors are Community at p<0.000 level, Self-efficacy and Perceived severity at p<0.05 levels.
CONCLUSION: The study results ascertain the necessity of a psychosocial approach or the socio-cognitive perspective to understand the factors that actually enable a diabetes patient to engage in more self-care behaviours. In the Indian scenario, where health literacy is very minimum, the findings of the study can be used to implement better strategies for diabetes management both at the level of medical/mental health professionals and at the level of media and policy.
PMID:35598234 | DOI:10.2174/1573399818666220519142118