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1.
The primary purpose of this study was to establish a methodology for determining and perhaps predicting (via regression analysis of anthropometric measures) Macaca fascicularis isometric pinch strength for a specific task. The larger purpose of this work was to properly scale a pinching task for the monkeys in order to study dose-response relationships in a non-human primate model for carpal tunnel syndrome. Three female and one male macaque (n = 4) of varying size and age were trained to perform a left-handed pad–pad pinch. The task required 60° of wrist flexion at a static pinching distance of 3 cm between the thumb and fingers. Subjects were trained for a period of 20-weeks. After that time, an analysis of performance gradients found that they had each reached a plateau in their force output. Pinch strength for the four animals ranged from 29.4 to 59.8 N. Regression analysis revealed that body mass (kg) and wrist circumference (cm) were both predictive of pinch strength, exhibiting adjusted R2 values of 0.93 (p = 0.024) and 0.96 (p = 0.015), respectively. Thus, the results suggest that maximal pinch strength could be acceptably estimated in future subjects using either the wrist circumference or the body mass measures, as both were strong predictors of pad–pad pinch strength.  相似文献   

2.
The objective of this study was to determine whether single nucleotide polymorphisms (SNPs) in the Interleukin-1 (IL-1) gene family are associated with central obesity and metabolic syndrome in a coronary heart disease population. The IL-1α C-889T (rs1800587) and IL-1β +3954 (rs1143634) SNPs were studied in a Western Australian coronary heart disease (CHD) population (N = 556). Subjects who were TT homozygous at either SNP had larger waist circumference (IL-1α: 1.8 cm greater, P = 0.04; IL-1β: 4 cm greater, P = 0.0004) compared with major allele homozygotes. Individuals with two copies of the IL-1α:IL-1β T:T haplotype had greater waist circumference (4.7 cm greater, P = 0.0001) compared to other haplotypes. There was a significant interaction between the IL-1β SNP and BMI level on waist circumference (P = 0.01). When the cohort was stratified by median BMI, TT carriers for IL-1β with above median BMI had greater waist circumference (6.1 cm greater, P = 0.007) compared to baseline carriers, whilst no significant association was seen in the below median group. Similarly, when the cohort was stratified by median fibrinogen level (IL-1α interaction P = 0.01; IL-1β interaction P = 0.04), TT carriers for both SNPs in the above median fibrinogen group had greater waist circumference (IL-1α 2.7 cm greater, P = 0.007; IL-1β 3.3 cm greater, P = 0.003) compared with major allele homozygotes. This association was not seen in the below median group. Also, we found a trend of increased metabolic syndrome for IL-1β TT homozygotes (P = 0.07). In conclusion, our findings suggest that in a CHD population IL-1 gene polymorphisms may be involved in increased central obesity, and the genetic influences are more evident among patients who have a higher level of obesity or inflammatory markers.  相似文献   

3.
The disruption of intestinal microbiota is an important risk factor for the development of Clostridium difficile caused antibiotic associated diarrhea (AAD). The role of intestinal lactoflora in protection against C. difficile is unclear. Fecal samples (n = 74) from AAD patients were investigated for C. difficile and lactobacilli by culture and real-time PCR. Lactobacilli were identified by enterobacterial repetitive intergenic consensus PCR (ERIC-PCR) and sequencing of 16S rRNA. In C. difficile negative cases we found somewhat higher counts of intestinal Lactobacilli (5.02 vs. 2.15 CFU log10/g; p = 0.053) by culture and more frequently Lactobacillus plantarum (33.3% vs. 9.4%; p = 0.03) as compared with positive ones. Results of total counts of lactobacilli comparing Estonian and Norwegian samples were conflicting by culture and PCR. We found higher colonization of Norwegian AAD patients with L. plantarum (21% vs. 5%, p = 0.053) and Estonians with Lactobacillus gasseri (19% vs. 2%, p = 0.023). Particular lactobacilli (e.g. L. plantarum) may have a role in protection against C. difficile, whereas the meaning of total counts of lactobacilli remains questionable. In different persons and nations, different lactobacilli species may have a protective role against C. difficile.  相似文献   

4.
Objectives: (a) To investigate changes in muscular strength, fatigue and activity in recovered tennis elbow (RTE); (b) to assess the appropriateness of EMG and strength measurements in monitoring functional recovery in tennis elbow (TE).Methods: Study included three age-matched female groups of Control (C) (n = 8, no history of musculoskeletal problems), TE (n = 7, local tenderness at the lateral epicondyle and pain with resisted wrist and middle finger extension) and RTE (n = 6, asymptomatic for at least 6 months, no lateral epicondyle tenderness). Measurements included metacarpophalangeal (MCP), wrist, shoulder and grip isometric strength and EMG measures of muscle fatigue and activity for five forearm muscles (wrist extensors and flexors).Results: Strength was greater (p < 0.05) for all measurements in C compared to RTE and TE except for MCP extension. Only MCP extension was stronger in RTE than TE. EMG revealed increased activity of extensor carpi radialis (ECR) in RTE, decreased in TE.Conclusions: Despite attenuation of pain, global upper limb weakness in RTE indicated incomplete functional recovery. Increased strength of MCP extension may protect weakened wrist extensors from further injury. Monitoring the ECR activity as well as strength measurements may provide a useful assessment of functional recovery in TE.  相似文献   

5.
We evaluated determinants of anti-benzo[a]pyrenediolepoxide-(B[a]PDE)–DNA adduct formation (adduct induced by the ultimate carcinogenic metabolite of B[a]P) in lymphomonocytes of subjects environmentally exposed to low doses of polycyclic aromatic hydrocarbons (PAHs) (B[a]P). Our study population consisted of 585 Caucasian subjects, all municipal workers living in North-East Italy and recruited during their periodic check-ups after informed consent. PAH (B[a]P) exposure was assessed by questionnaire. Anti-B[a]PDE–DNA levels were measured by HPLC fluorescence analysis.We found that cigarette smoking (smokers (22%) versus non-smokers, p < 0.0001), dietary intake of PAH-rich meals (≥52 (38%) versus <52 times/year, p < 0.0001), and outdoor exposure (≥4 (19%) versus <4 h/day; p = 0.0115) significantly influenced adduct levels. Indoor exposure significantly increased the frequency of positive subjects (≥0.5 adducts/108 nucleotides; χ2 for linear trend, p = 0.051). In linear multiple regression analysis the major determinants of increased DNA adduct levels (ln values) were smoking (t = 6.362, p < 0.0001) and diet (t = 4.035, p < 0.0001). In this statistical analysis, indoor and outdoor exposure like other factors of PAH exposure had no influence. In non-smokers, the influence of diet (p < 0.0001) and high indoor exposure (p = 0.016) on anti-B[a]PDE–DNA adduct formation became more evident, but not that of outdoor exposure, as was confirmed by linear multiple regression analysis (diet, t = 3.997, p < 0.0001 and high indoor exposure, t = 2.522, p = 0.012).This study indicates that anti-B[a]PDE–DNA adducts can be detected in the general population and are modulated by PAH (B[a]P) exposure not only with smoking – information already known from studies with limited number of subjects – but also with dietary habits and high indoor exposure. In non-smokers, these two factors are the principal determinants of DNA adduct formation. The information provided here seems to be important, since DNA adduct formation in surrogate tissue is an index of genotoxic exposure also in target organs (e.g., lung) and their increase may also be predictive of higher risk for PAH-related cancers.  相似文献   

6.
This study focused on the length–weight and length–length relationships of five Mystus species from Bangladesh. A sum of 398 individuals (Mystus bleekeri = 47, Mystus cavasius = 171, Mystus gulio = 59, Mystus tengra = 65, and Mystus vittatus = 56) was collected from the Ganges and Rupsha rivers, Bangladesh. Fishes were caught by gill net (mesh sizes: 2.0–4.0 cm) and cast net (mesh sizes: 1.5–3.0 cm) from July 2014 to June 2015. Total length (TL), fork length (FL) and standard length (SL) were measured to 0.1 cm, while whole body weight (W) was taken to the nearest 0.1 g for each individual. The TL ranged from 6.0–13.5 cm for M. bleekeri, 5.0–15.0 cm for M. cavasius, 7.4–17.2 cm for M. gulio, 4.6–11.6 cm for M. tengra and 5.5–12.3 cm for M. vittatus. The W varied from 3.0–18.2 g for M. bleekeri, 1.3–30.4 g for M. cavasius, 6.1–62.2 g for M. gulio, 1.7–15.1 g for M. tengra and 2.7–19.2 g for M. vittatus. All LWRs were highly significant (p < .001), with all r2 values ≥.950. The LLRs were also highly significant (p < .001), with all r2 ≥.980. This study provides information on LWRs and LLRs for M. gulio and M. tengra for the first time. The results of this study can be very effective for stock assessment of Mystus species in the Ganges and Rupsha rivers as well as in the surrounding ecosystems.  相似文献   

7.
This paper aimed to define the reproductive period and population parameters of Serrasalmus marginatus relative to local environmental features, such as day length, rainfall and mean river level. The study site was a floodplain in the Negro river, Pantanal, Brazil, and samples were collected bimonthly using gill nets and cast nets with meshes from 1.5 to 8 cm between adjacent knots. The reproduction period, as determined by gonadosomatic index (GSI) and percentage of gonad stages, varied significantly along the year (F4,116 = 77.5; p < 0.01), but it was well defined from October to December. Reproduction period was positively correlated with rainfall (rs = 0.97; p < 0.01) and photoperiod (rs = 0.92; p = 0.02), but not with the rise of river level (rs = 0.10; p = 0.86). Rainfall and photoperiod may act as predictive factors, providing cues to fish to begin reproduction in order to find the best conditions for offspring in the following months, during the flooding season, when the river level reaches its peak and extends to the plain. We have herein reported the first population parameters described for this species in the Brazilian Pantanal, including growth rate (k = 0.53/year), asymptotic length (L∞ = 32.74), lifespan (A0.95 = 5.65) and mortality (M = 1.11), showing that this population has better growth performance when compared to data reported for this same species in the Paraná river since the population in the Negro river is characterized by lower growth and mortality rates, and S. marginatus achieved longer lengths and lifespan. This latter parameter was compatible with six cohorts estimated by Electronic Length Frequency Analysis (ELEFAN). The size at first maturity (L50 = 18.26 cm A50 = 1.56 years) was also larger and later than the population in the Paraná river, likely a consequence of the the lower mortality and the maintenance of larger specimens in the Negro river.  相似文献   

8.
Autogenic training (AT) is a useful and comprehensive relaxation technique. However, no studies have investigated the effects of AT on irritable bowel syndrome (IBS). In this study we tested the hypothesis that AT improves symptoms of IBS. Twenty-one patients with IBS were randomly assigned to AT (n = 11, 5 male, 6 female) or control therapy (n = 10, 5 male, 5 female). AT patients were trained intensively, while the control therapy consisted of discussions about patients’ meal habits and life styles. All patients answered a question related to adequate relief (AR) of IBS symptoms and four questionnaires: Self-induced IBS Questionnaire (SIBSQ), Self-reported Depression Scale (SDS), State-Trait Anxiety Inventory (STAI), and Medical Outcome Short Form 36 Health Survey (SF-36). The proportion of AR in the last AT session in the AT group (9/11, 81.8%) was significantly higher than that in the controls (3/10, 30.0%, Chi-square test, p = 0.048). Two subscales of the SF-36, i.e., social functioning and bodily pain, were significantly improved in the AT group (p < 0.05) as compared to the control group. Role emotional (p = 0.051) and general health (p = 0.068) showed a tendency for improvement in the AT group. AT may be useful in the treatment of IBS by enhancing self-control.  相似文献   

9.
Progressive resistance exercise training (PRT) is the most effective known intervention for combating aging skeletal muscle atrophy. However, the hypertrophic response to PRT is variable, and this may be due to muscle inflammation susceptibility. Metformin reduces inflammation, so we hypothesized that metformin would augment the muscle response to PRT in healthy women and men aged 65 and older. In a randomized, double‐blind trial, participants received 1,700 mg/day metformin (N = 46) or placebo (N = 48) throughout the study, and all subjects performed 14 weeks of supervised PRT. Although responses to PRT varied, placebo gained more lean body mass (p = .003) and thigh muscle mass (p < .001) than metformin. CT scan showed that increases in thigh muscle area (p = .005) and density (p = .020) were greater in placebo versus metformin. There was a trend for blunted strength gains in metformin that did not reach statistical significance. Analyses of vastus lateralis muscle biopsies showed that metformin did not affect fiber hypertrophy, or increases in satellite cell or macrophage abundance with PRT. However, placebo had decreased type I fiber percentage while metformin did not (p = .007). Metformin led to an increase in AMPK signaling, and a trend for blunted increases in mTORC1 signaling in response to PRT. These results underscore the benefits of PRT in older adults, but metformin negatively impacts the hypertrophic response to resistance training in healthy older individuals. ClinicalTrials.gov Identifier: NCT02308228.  相似文献   

10.
The decrease in skeletal muscle mitochondrial oxidative capacity with age adversely affects muscle strength and physical performance. Factors that are associated with this decrease have not been well characterized. Low plasma lysophosphatidylcholines (LPC), a major class of systemic bioactive lipids, are predictive of aging phenotypes such as cognitive impairment and decline of gait speed in older adults. Therefore, we tested the hypothesis that low plasma LPC are associated with impaired skeletal muscle mitochondrial oxidative capacity. Skeletal muscle mitochondrial oxidative capacity was measured using in vivo phosphorus magnetic resonance spectroscopy (31P‐MRS) in 385 participants (256 women, 129 men), aged 24–97 years (mean 72.5) in the Baltimore Longitudinal Study of Aging. Postexercise recovery rate of phosphocreatine (PCr), kPCr, was used as a biomarker of mitochondrial oxidative capacity. Plasma LPC were measured using liquid chromatography–tandem mass spectrometry. Adults in the highest quartile of kPCr had higher plasma LPC 16:0 (p = 0.04), 16:1 (p = 0.004), 17:0 (p = 0.01), 18:1 (p = 0.0002), 18:2 (p = 0.002), and 20:3 (p = 0.0007), but not 18:0 (p = 0.07), 20:4 (p = 0.09) compared with those in the lower three quartiles in multivariable linear regression models adjusting for age, sex, and height. Multiple machine‐learning algorithms showed an area under the receiver operating characteristic curve of 0.638 (95% confidence interval, 0.554, 0.723) comparing six LPC in adults in the lower three quartiles of kPCr with the highest quartile. Low plasma LPC are associated with impaired mitochondrial oxidative capacity in adults.  相似文献   

11.
12.
Abstract

To improve our understanding on the neuromechanics of finger movements, a comprehensive musculoskeletal model is needed. The aim of this study was to build a musculoskeletal model of the hand and wrist, based on one consistent data set of the relevant anatomical parameters. We built and tested a model including the hand and wrist segments, as well as the muscles of the forearm and hand in OpenSim. In total, the model comprises 19 segments (with the carpal bones modeled as one segment) with 23 degrees of freedom and 43 muscles. All required anatomical input data, including bone masses and inertias, joint axis positions and orientations as well as muscle morphological parameters (i.e. PCSA, mass, optimal fiber length and tendon length) were obtained from one cadaver of which the data set was recently published. Model validity was investigated by first comparing computed muscle moment arms at the index finger metacarpophalangeal (MCP) joint and wrist joint to published reference values. Secondly, the muscle forces during pinching were computed using static optimization and compared to previously measured intraoperative reference values. Computed and measured moment arms of muscles at both index MCP and wrist showed high correlation coefficients (r?=?0.88 averaged across all muscles) and modest root mean square deviation (RMSD?=?23% averaged across all muscles). Computed extrinsic flexor forces of the index finger during index pinch task were within one standard deviation of previously measured in-vivo tendon forces. These results provide an indication of model validity for use in estimating muscle forces during static tasks.  相似文献   

13.
There is a growing body of evidence of changes in corticospinal excitability associated with musculoskeletal disorders, however there is a lack of knowledge of how these changes relate to measures of pain, motor performance and disability. An exploratory study was performed utilizing Transcranial Magnetic Stimulation to investigate differences in corticospinal excitability in the Abductor Pollicis Brevis (APB) between 15 pain-free subjects and 15 subjects with chronic wrist/hand pain and to determine how corticospinal excitability was associated with measures of pain (visual analog scale, AUSCAN™), hand motor performance (isometric and key pinch strength, Purdue Pegboard Test), disability (AUSCAN™), and spinal motoneuronal excitability. Input–output curves demonstrated increased corticospinal excitability of the APB in the affected hand of subjects with chronic pain (p < 0.01). Changes in corticospinal excitability were significantly correlated with pain intensity (r = 0.77), disability (r = 0.58), and negatively correlated with motoneuronal excitability (r = −0.57). Corticospinal excitability in subjects with heterogeneous injuries of the wrist/hand was associated with disability and pain.  相似文献   

14.
This study was designed to test the hypothesis that polymorphic variation in maternally transmitted foetal H19 alleles is associated with offspring size at birth and alterations in maternal glucose concentrations in pregnancy. Inferred parent of origins of transmitted alleles from 13 haplotype tag SNPs in the H19 gene region from 845 family (mother, partner, offspring) trios from the prospective Cambridge Baby Growth Study and 315 trios from the retrospective Cambridge Wellbeing Study cohorts were tested for association with offspring size at birth measures, as well as maternal glucose concentrations 1 h after a glucose load at week 28 of pregnancy. The foetal rs2071094 allele inherited from the mother was associated with increased birth weight (p = 0.0015) adjusted for gestational age, parity and sex. In the Cambridge Baby Growth Study it was also associated with increased head circumference (p = 0.004), length (p = 0.017) and sum of skinfold thicknesses (p = 0.017) at birth. In contrast to these results there was no association between offspring birth weight and either the maternal rs2071094 genotype or the foetal allele from the father. None of the foetal alleles or maternal genotypes were associated with maternal glucose concentrations, neither were there any other associations with offspring birth weight. In conclusion, consistent with imprinting, common polymorphic variation in foetal H19 alleles transmitted only from the mother are associated with birth weight and other markers of size at birth. Polymorphic variation in H19 is not associated with significant changes in maternal glucose tolerance in the third trimester of pregnancy.  相似文献   

15.
The effects of imidacloprid, propargite, and pymetrozine on the common green lacewing, Chrysoperla carnea (Stephens) were investigated in the laboratory, using the IOBC-system and the life table response experiment. Residual glass plate bioassays were carried out using two-day-old larvae at the Iranian maximum field recommended rate of each commonly used pesticide. All three tested pesticides produced significant adverse effects on pre-imaginal survival (p < 0.01). Imidacloprid had no significant effect on fecundity, but propargite and pymetrozin caused significant reductions (p < 0.05). According to the IOBC classification, imidacloprid was found to be harmless (E = 27.44%); propargite (E = 49.78%) and pymetrozine (E = 66.9%) were slightly harmful. Life table assays revealed that imidacloprid and propargite had no significant effects on the intrinsic rate of natural increase, while pymetrozine caused a 34% reduction in r m value (p < 0.05). Propargite was non-toxic to C. carnea under the tested conditions. In the case of imidacloprid, using a glass plate as test substrate led to␣underestimation of its effects. The life table assay showed more adverse effects of pymetrozine than the IOBC method.  相似文献   

16.
It has been implied that there is a possible relationship between cyclin-dependent protein kinase inhibitors antisense RNA 1 (CDKN2B-AS1) gene rs4977574 A/G polymorphism and coronary heart disease (CHD) susceptibility. However, as the research results are discrepant, no distinct consensus on this issue has been reached so far. In order to further elaborate the latent association of the CDKN2B-AS1 gene rs4977574 A/G polymorphism and CHD, this present meta-analysis was conducted. There were 40,979 subjects of 17 individual studies in the present meta-analysis. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were estimated to determine the association strength. Considering the significant heterogeneity among the individual studies, the random-effect models were used. In the current meta-analysis, a significant association between CDKN2B-AS1 gene rs4977574 A/G polymorphism and CHD was found under allelic (OR: 1.18, 95% CI: 1.08–1.29, p = 4.83×10−4), recessive (OR: 1.36, 95% CI: 1.11–1.67, p = 0.003), dominant (OR: 0.71, 95% CI: 0.58–0.86, p = 6.26×10−4), heterozygous (OR:1.210, 95% CI: 1.076–1.360, p = 0.001), homozygous (OR: 1.394, 95% CI: 1.163–1.671, p = 3.31×10−4) and additive (OR: 1.180, 95% CI: 1.075–1.295, p = 4.83×10−4) genetic models. A more significant association between them was found in the Asian population than that in the whole population under these genetic models (p < 0.05). However, no significant association between them was found in the Caucasian population (p > 0.05). CDKN2B-AS1 gene rs4977574 A/G polymorphism was associated with CHD susceptibility, especially in the Asian population. G allele of CDKN2B-AS1 gene rs4977574 A/G polymorphism is the risk allele for CHD.  相似文献   

17.
Previous studies have shown that maternal antibodies to Toxoplasma measured during pregnancy are associated with an increased risk of schizophrenia and other psychoses in adult offspring. Recently, it has been recognized that different genotypes of Toxoplasma have distinct neuropathogenic potential. The objective of this study was to investigate whether parasite genotype is a contributing factor to disease risk. We have developed an enzyme-linked immunosorbent assay (ELISA) that uses polymorphic polypeptides specific to the three clonal parasite lineages and derived from three dense granule antigens, GRA5, GRA6 and GRA7. We used this assay to measure type-specific antibodies in the sera from 219 pregnant women whose children developed schizophrenia and affective psychotic illnesses in adult life, and 618 matched unaffected control mothers from three cohorts of the Collaborative Perinatal Project. We found that the offspring of mothers with a serological pattern consistent with Toxoplasma type І infection were at significantly increased risk for the development of psychoses as compared with the matched unaffected control mothers (odds ratio = 1.94; 95% confidence interval = 1.08–3.46; p = 0.03). The risk was particularly elevated for affective psychoses (OR = 5.24; 95% CI = 1.67–16.5; p = 0.005). In contrast, we did not find an association between maternal antibodies to other genotypes and risk of psychoses in the offspring. These findings suggest an influence of the parasite genotype on increased risk of psychosis and provide further support for a substantive role of Toxoplasma in the etiology of psychosis.  相似文献   

18.
The purpose of this study was to determine whether 7 weeks of standardized (same number and duration of repetitions, sets and rest strictly identical) electromyostimulation training of the elbow flexor muscles would induce strength gains equivalent to those of voluntary isometric training in isometric, eccentric and concentric contractions. Twenty-five males were randomly assigned to an electromyostimulated group (EMS, n = 9), a voluntary isometric group (VOL, n = 8), or a control group (CON, n = 8). Maximal voluntary isometric, eccentric and concentric strength, electromyographic (EMG) activity of the biceps and triceps brachii muscles, elbow flexor muscle activation (twitch interpolation technique) and contractile properties were assessed before and after the training period. The main findings were that the isometric torque gains of EMS were greater than those of VOL after the training period (P < 0.01) and that the eccentric and concentric torque gains were equivalent. In both groups, we observed that the mechanical twitch (Pt) was increased (P < 0.05) and that torque improvements were not mediated by neural adaptations. Considering the respective intensities of the training programs (i.e., submaximal contractions for EMS versus maximal for VOL), it can be concluded that electromyostimulation training would be more efficient than voluntary isometric training to improve both isometric and dynamic strength.  相似文献   

19.
This study aims to evaluate the effect of non-alcoholic fatty liver disease (NAFLD) on the susceptibility and consequences of coronavirus disease 2019 (COVID-19). We retrospectively collected data from 218 adult COVID-19 patients who showed no evidence of excessive alcohol consumption and underwent abdominal ultrasound examinations. Of these patients, 39.4% patients had been diagnosed with NAFLD, which indicates a much higher prevalence of NAFLD than that reported in the general population. Significantly elevated white blood cell count (p = 0.008), alanine aminotransferase (p = 0.000), aspartate aminotransferase (p = 0.006) and C reactive protein (p = 0.012) were found in the patients with NAFLD. These patients also had significantly higher proportions of hypertension (p = 0.006) and diabetes (p = 0.049) than the non-NAFLD cases. No significant differences existed in the severity, mortality, viral shedding time and length of hospital stay between patients with or without NAFLD in the sample population. However, subgroup analyses found that in patients with normal body mass index (BMI), NAFLD sufferers were more likely to experience a severe event (30.0% vs 11.5%, p = 0.021). Kaplan-Meier curve (log-rank p = 0.017) and Cox regression (HR = 3.26, 95% CI: 1.17–9.04, p = 0.023) analyses confirmed that before and after adjusting for gender, age and comorbidities, NAFLD patients with normal BMI had a higher incidence of suffering severe events. People with NAFLD may have a higher proportion of COVID-19. NAFLD may be correlated with the severity of COVID-19 patients in the normal BMI group.  相似文献   

20.
Hirschsprung disease (HSCR) is an infrequent congenital intestinal dysplasia. The known genetic variations are unable to fully explain the pathogenesis of HSCR. The α/β-hydratase domain 1 (ABHD1) interferes with the proliferation and migration of intestinal stem cells. Docking protein 6 (DOK6) is involved in neurodevelopment through RET signalling pathway. We examined the association of ABHD1 and DOK6 genetic variants with HSCR using 1470 controls and 1473 HSCR patients from Southern Chinese children. The results clarified that DOK6 rs12968648 G allele significantly increased HSCR susceptibility, in the allelic model (p = 0.034; OR = 1.12, 95%CI = 1.01~1.24) and the dominant model (p = 0.038; OR = 1.12, 95%CI = 1.01~1.25). Clinical stratification analysis showed that rs12968648 G allele was associated with increased risk of short-segment HSCR (S-HSCR), in the allelic model (p = 0.028; OR = 1.14, 95%CI = 1.01~1.28) and the additive model (p = 0.030; OR = 1.14, 95%CI = 1.01~1.28). ABHD1 rs2304678 C allele had higher risk to develop total colonic aganglionosis (TCA) in the allelic model (p = 7.04E-03; OR = 1.67, 95%CI = 1.15~2.43) and the dominant model (p = 4.12E-03; OR = 1.93, 95%CI = 1.23~3.04). DOK6 rs12968648 and ABHD1 rs2304678 had significant intergenic synergistic effect according to logical regression (p = 0.0081; OR = 0.76, 95%CI = 0.63~0.93) and multifactor dimensionality reduction (MDR, p = 0.0045; OR = 1.25, 95%CI = 1.07~1.46). This study verified two susceptible variations of HSCR on ABHD1 and DOK6. Their roles in HSCR should be conducted in further studies.  相似文献   

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