Association of vitamin D receptor polymorphisms with metabolic syndrome‐related components: A cross‐sectional study

BackgroundThe association between vitamin D receptor (VDR) polymorphisms and metabolic syndrome (MS) has been demonstrated by epidemiological studies while their correlation remain controversial. The aim of this study is to investigate the association of VDR gene polymorphisms with MS and MS‐related components in the two communities of Hangzhou.MethodsA total of 394 subjects were enrolled in the cross‐sectional study. Four VDR gene polymorphisms (ApaI, BsmI, FokI, and TaqI) were selected based on human genome sequence databases and genotyped using the MassARRAY Analyzer Compact.ResultsIn lipid profile, the TT genotype of ApaI had a significantly lower risk of hypertriglyceridemia compared with the GG+GT genotypes (recessive model: OR = 0.141; 95% CI = 0.041–0.486; p < 0.01) and the GG genotype (codominant model: OR = 0.155; 95% CI = 0.044–0.545; p < 0.01). The levels of triglyceride (TG) in the TT genotype of ApaI were lower than the GG+GT genotypes (1.29 ± 0.63 vs. 1.78 ± 1.59 mmol/L, p < 0.01). Furthermore, the AA+GA carriers of BsmI had lower levels of high‐density lipoprotein cholesterol (HDL‐C) than the GG carriers (1.28 ± 0.29 vs. 1.42 ± 0.34 mmol/L, p < 0.05). The CC+TC carriers of TaqI also suffered from lower HDL‐C compared with the TT carriers (1.27 ± 0.29 vs. 1.42 ± 0.34 mmol/L, p < 0.01). For arterial blood pressure, the CC carriers had lower systolic blood pressure (SBP) than the TT+TC carriers (p < 0.01) and the TT carriers of FokI (p < 0.05). However, the FokI polymorphisms were not associated with SBP and the mean blood pressure of both groups laid within the normal range.ConclusionsIn our study, VDR polymorphisms show no association with the MS risk. The present results suggest that the VDR ApaI polymorphism is associated with hypertriglyceridemia and predisposed to developing MS, while the variants of BsmI and TaqI seem to affect HDL‐C. Nevertheless, the effect of FokI variants with SBP is ambiguous.     

Inferior vena cava collapsibility loses correlation with internal jugular vein collapsibility during increased thoracic or intra-abdominal pressure

Purpose

Point-of-care ultrasound evaluates inferior vena cava (IVC) and internal jugular vein (IJV) measurements to estimate intravascular volume status. The reliability of the IVC and IJV collapsibility index during increased thoracic or intra-abdominal pressure remains unclear.

Methods

Three phases of sonographic scanning were performed: spontaneous breathing phase, increased thoracic pressure phase via positive pressure ventilation (PPV) phase, and increased intra-abdominal pressure (IAP) phase via laparoscopic insufflation to 15 mmHg. IVC measurements were done at 1–2 cm below the diaphragm and IJV measurements were done at the level of the cricoid cartilage during a complete respiratory cycle. Collapsibility index was calculated by (max diameter − min diameter)/max diameter × 100 %. Chi square, t test, correlation procedure (CORR) and Fisher’s exact analyses were completed.

Results

A total of 144 scans of the IVC and IJV were completed in 16 patients who underwent laparoscopic surgery. Mean age was 46 ± 15 years, with 75 % female and 69 % African-American. IVC and IJV collapsibility correlated in the setting of spontaneous breathing (r² = 0.86, p < 0.01). IVC collapsibility had no correlation with the IJV in the setting of PPV (r² = 0.21, p = 0.52) or IAP (r² = 0.26, p = 0.42). Maximal IVC diameter was significantly smaller during increased IAP (16.5 mm ± 4.9) compared to spontaneous breathing (20.6 mm ± 4.8, p = 0.04) and PPV (21.8 mm ± 5.6, p = 0.01).

Conclusion

IJV and IVC collapsibility correlated during spontaneous breathing but there was no statistically significant correlation during increased thoracic or intra-abdominal pressure. Increased intra-abdominal pressure was associated with a significant smaller maximal IVC diameter and cautions the reliability of IVC diameter in clinical settings that are associated with intra-abdominal hypertension or abdominal compartment syndrome.     

Association between the TAP1 gene polymorphisms and recurrent respiratory papillomatosis in patients from Western Mexico: A pilot study

BackgroundRecurrent respiratory papillomatosis (RRP) is a respiratory tract disease that affects children and adults and is characterized by the recurrent proliferation of multiple papillomas. The etiologic agent is the human papillomavirus, mainly genotypes 6 and 11. Furthermore, polymorphisms in TAP1 appear to influence the selection of antigenic peptides and the transport process to the rough endoplasmic reticulum, for their subsequent presentation to T lymphocytes, an essential process against viral diseases and tumor processes. Previous studies have shown that individuals with those polymorphisms are susceptible to immune, infectious, and tumor‐related diseases. The present study aimed to determine the association between the TAP1 rs1057141 (c.1177A>G) and rs1135216 (c.2090A>G) single nucleotide polymorphisms (SNPs) and RRP.MethodsA case–control study was carried out on a group of 70 individuals (35 controls and 35 patients). RRP diagnosis, HPV genotyping, and viral load were determined through histology and PCR. SNPs rs1057141 and rs1135216 were identified through allelic discrimination, using real‐time PCR. The haplotypic analyses were performed using the Arlequin 3.5 program.ResultsHPV‐6 and HPV‐11 were the genotypes found in the samples. In the polymorphism analysis, rs1057141 showed no significant differences (p = 0.049, CI = 0.994–7.331). In contrast, a significant difference was found in rs1135216 (p = 0.039, OR = 2.4) in the allelic analysis, as well as in the dominant (p = 0.027, OR = 3.06), codominant (p = 0.033, OR = 3.06), and additive model (p = 0.043, OR = 2.505) in subjects with the G allele.ConclusionThe G allele in rs1135216 was associated with a genetic risk of susceptibility for RRP in a population in Western Mexico.     

TLR4 polymorphisms as potential predictors of atopic dermatitis in Chinese Han children

BackgroundToll‐like receptor 4 (TLR4) is considered to be involved in the pathogenesis and progression of atopic dermatitis (AD). In the present study, we evaluated the relationship between TLR4 gene polymorphisms and the susceptibility or severity of AD among Chinese Han children.MethodsA total of 132 AD patients and 100 healthy controls were enrolled in this study. Four single‐nucleotide polymorphisms (rs19277914, rs11536891, rs7869402, and rs11536889) of the TLR4 gene were genotyped by multiplex PCR combined with next‐generation sequencing.ResultsOur results showed that a significantly reduced risk for AD was associated with C allele [p = 0.008; odds ratio (OR) = 0.41, C vs. T], TC genotype (p = 0.022; OR = 0.41, TC vs. TT), and TC + CC genotype (p = 0.010; OR = 0.39, TC + CC vs. TT) of TLR4 rs11536891. The frequency of the haplotype GCCG (rs1927914–rs11536891–rs7869402–rs11536889) in AD patients was lower than that in the controls (p = 0.010; OR = 0.38). Moreover, the results indicated that a higher risk of severe AD was related to the T allele (p = 0.019; OR = 2.97, T vs. C) and the TC genotype (p = 0.021; OR = 3.34, TC vs. CC) of TLR4 rs7869402. A risk haplotype of TLR4 (GTTG) was found in severe AD patients (p = 0.010; OR = 5.26).ConclusionsOur data suggested that TLR4 rs11536891 polymorphism was associated with the susceptibility to AD in Chinese Han children. And TLR4 rs7869402 might confer the severity of pediatric AD patients.     

CEUS in the study of bladder,method, administration and evaluation,a technical note

Purpose

Contrast-enhanced ultrasound (CEUS) is the application of ultrasound contrast agents (UCAs) to traditional medical sonography. The development of UCAs allowed to overcome some of the limitations of conventional B-mode and Doppler ultrasound techniques and enabled the display of the parenchymal microvasculature. Purpose of this paper is to delineate the elements of a solid and science-based technique in the execution of urinary bladder CEUS.

Methods

We describe the technical execution of urinary bladder CEUS and the use of perfusion softwares to perform contrast enhancement quantitative analysis with generation of time–intensity curves from regions of interest.

Results

During CEUS, normal bladder wall shows a wash-in time of 13 s, a time to peak (TTP) >40 s, a signal intensity (SI) <45 % and a wash-out time >80 s; Low-grade urothelial cell carcinoma (UCC) shows a wash-in time of 13 s, a time to peak TTP >28 s, a SI <45 % and a wash-out time of 40 s; High-grade UCC shows a wash-in time of 13 s, a TTP >28 s, a SI >50 % and a wash-out time of 58 s.

Conclusions

CEUS is a useful tool for an accurate characterization of bladder UCC although it has some drawbacks. To avoid misunderstandings, a widely accepted classification and a standardized terminology about the most significant parameters of this application should be adopted in the immediate future.     

Systemic immune‐inflammation index is associated with disease activity in patients with ankylosing spondylitis

BackgroundThe systemic immune‐inflammation index (SII) is a recently developed indicator for systemic inflammatory response. We aimed to explore the association between SII and disease activity in patients with ankylosing spondylitis (AS).MethodsThis retrospective study included 136 patients with AS and 63 healthy controls. Patients were divided into two groups according to Bath Ankylosing Spondylitis Disease Activity Index (BASDAI); active group (n = 60) and remission group (n = 76). Clinical, laboratory, and demographic characteristics were recorded. Spearman''s correlation analysis was used to determine correlations of SII with C‐reactive protein (CRP) level, erythrocyte sedimentation rate (ESR), and BASDAI in AS patients. Binary logistic regression analysis was used to assess risk factors for AS disease activity. Receiver operating characteristic curve analysis was used to evaluate the diagnostic value of SII and the above variables for the active group compared with the remission group.ResultsSystemic immune‐inflammation index levels were higher in AS patients than in healthy controls (p < 0.001). SII levels were higher in the active group than in the remission group (p < 0.001). For patients with AS, SII correlated positively with CRP (r_s = 0.483, p < 0.001), ESR (r_s = 0.374, p < 0.001), and BASDAI (r_s = 0.667, p < 0.001). SII (OR = 1.009, 95% CI = 1.006–1.012, p < 0.001) was an independent risk factor affecting AS disease activity. The specificity and sensitivity of SII using a cutoff value of 513.2 were 83.33% and 86.84%, respectively, for the active group.ConclusionSystemic immune‐inflammation index was increased in AS. SII may be a novel indicator for monitoring AS disease activity.     

Biochemical testing for the diagnosis of Wilson's disease: A systematic review

BackgroundWilson''s disease (WD) is a rare inherited disorder that leads to copper accumulation in the liver, brain, and other organs. WD is prevalent worldwide, with an occurrence of 1 per 30,000 live births. Currently, there is no gold standard diagnostic test for WD. The objective of this systematic review is to determine the diagnostic accuracy for WD of three biochemical tests, namely hepatic copper, 24‐hour urinary copper, and ceruloplasmin using the Leipzig criteria.MethodsAdhering to PRISMA guidelines, databases including PubMed/MEDLINE, CINAHL Plus, Web of Science, and Cochrane were searched. Studies that comprised of confirmed or suspected WD along with normal populations were included with adult and pediatric group. The sensitivity, specificity, negative predictive value and positive predictive value were computed using RevMan 5.4.ResultsNine studies were included. The best practice evidence for 24‐hour urinary copper test ranged from a cutoff value of 0.64–1.6 μmol/24 h (N = 268; sensitivity = 75.6%, specificity = 98.3%). Hepatic copper test was optimally cutoff based on the ROC curve analysis at 1.2 μmol/g yielding a power of 96.4% sensitivity and 95.4% specificity (N = 1,150); however, the tried and tested 4 μmol/g cutoff, with 99.4% sensitivity and 96.1% specificity, is more widely accepted. The ceruloplasmin test cutoff value was found to be ranging from 0.14 to 0.2 g/L (N = 4,281; sensitivity = 77.1%–99%, specificity = 55.9%–82.8%).ConclusionThis paper provides a large‐scale analysis of current evidence pertaining to the biochemical diagnosis of WD employing the Leipzig criteria. The laboratory values are typically based on specific subgroups based on age, ethnicity, and clinical subgroups. The findings of this systematic review must be used with caution, given the over‐ or under‐estimation of the index tests.     

Association of a common genetic variant (insertion/deletion) in ACE gene with prostate cancer susceptibility in a Tunisian population

BackgroundAngiotensin‐converting enzyme (ACE) plays a pivotal role in several pathologies including cancers. The association of insertion/deletion (I/D) polymorphism of the ACE gene with prostate cancer (PC) risk remains controversial. We aimed to investigate for the first time, to our Knowledge, in North Africa the potential relationship between ACE I/D polymorphism with PC susceptibility and clinical outcomes of PC patients.MethodsThis case‐control study included 143 healthy individuals and 124 patients diagnosed with PC. Using genomic DNA, the samples were genotyped for ACE I/D polymorphism by polymerase chain reaction (PCR).ResultsWe found that The D allele is significantly associated with an increased risk of PC and D/D + D/I genotypes were at 3 times increased risk of PC ([p = 0.005], OR = 2.95, IC 95% = 1.26–7.09) compared with I/I genotype (p = 0.003, OR = 0.3, IC 95% = 0.12–0.74). We observed an association between D/D and D/I genotypes with advanced age (≥70 years) (p = 0.014; r ² = 0.22). Furthermore, there is a significant prediction of advanced Gleason score ≥8 based on epidemiological parameters and ACE genotype (p = 0.000; R² = 0.349), although no significant association was observed with stage and metastasis.ConclusionThe ACE I/D polymorphism is likely to predispose to PC and could play a role in PC progression and aggressiveness.     

Multidisciplinary integrated headache care: a prospective 12-month follow-up observational study

This prospective study investigated the effectiveness of a three-tier modularized out- and inpatient multidisciplinary integrated headache care program. N = 204 patients with frequent headaches (63 migraine, 11 tension-type headache, 59 migraine + tension-type headache, 68 medication-overuse headache and 3 with other primary headaches) were enrolled. Outcome measures at baseline, 6- and 12-month follow-ups included headache frequency, Migraine Disability Assessment (MIDAS), Hospital Anxiety and Depression Scale (HADS), standardized headache diary and a medication survey. Mean reduction in headache frequency was 5.5 ± 8.5 days/month, p < 0.001 at 6 months’ follow-up and 6.9 ± 8.3 days/month, p < 0.001 after 1 year. MIDAS decreased from 53.0 ± 60.8 to 37.0 ± 52.4 points, p < 0.001 after 6 months and 34.4 ± 53.2 points, p < 0.001 at 1 year. 44.0 % patients demonstrated at baseline an increased HAD-score for anxiety and 16.7 % of patients revealed a HAD-score indicating a depression. At the end of treatment statistically significant changes could be observed for anxiety (p < 0.001) and depression (p < 0.006). The intake frequency of attack-aborting medication decreased from 10.3 ± 7.3 days/month at admission to 4.7 ± 4.1 days/month, p < 0.001 after 6 months and reached 3.8 ± 3.5 days/month, p < 0.001 after 1 year. At baseline 37.9 % of patients had experience with non-pharmacological treatments and 87.0 % at 12-month follow-up. In conclusion, an integrated headache care program was successfully established. Positive health-related outcomes could be obtained with a multidisciplinary out- and inpatient headache treatment program.     

Probiotics ameliorates glycemic control of patients with diabetic nephropathy: A randomized clinical study

ObjectiveThis research aimed to explore the effects of probiotic administration on glycemic control and renal function in patients with diabetic nephropathy (DN).MethodsThe 101 participants were randomly divided into two treatment groups and 76 patients were included in the final analysis. In 76 patients with diabetic nephropathy of type 2 diabetes, a randomized double‐blind and placebo‐controlled clinical trial was conducted to evaluate the administration of 3.2 × 10⁹ CFU probiotic supplements per day (Bifidobacterium bifidum, 1.2 × 10⁹ CFU, Lactobacillus acidophilus 4.2 × 10⁹ CFU, Streptococcus thermophilus 4.3 × 10⁹ CFU) for 12 weeks on glycemic control of patients, including fasting blood glucose, 2 h postprandial blood glucose, glycosylated hemoglobin (HbA1c), microalbuminuria/creatinine (mAlb/Cr) and estimated glomerular filtration rate (eGFR) levels. The placebo group daily received empty capsules filled with starch.ResultsAfter 12 weeks, the administration of probiotics demonstrated a significant reduction in fasting blood glucose (10.68 ± 3.24 mmol/L before vs. 7.81 ± 2.77 mmol/L after, p < 0.05), HbA1c (8.19 ± 1.60% before vs. 7.32 ± 1.20% after, p < 0.05) and mAlb/Cr (101.60 ± 22.17 mg/g before vs. 67.53 ± 20.11 mg/g after, p < 0.05), while only mAlb/Cr level was significantly lower in the probiotic group than in the placebo group after intervention (67.53 ± 20.11 mg/g vs. 87.71 ± 23.01, p < 0.05). Meanwhile, there was no significant reduction of 2 h postprandial blood glucose level (18.95 ± 5.23 mmol/L vs. 17.35 ± 6.28 mmol/L, p = 0.24) and eGFR (84.34 ± 6.97 ml/min vs. 82.8 ± 8.72 ml/min, p = 0.45) in patients before and after probiotic intake. In addition, the placebo group failed to show any significant change of these parameters.ConclusionThis clinical study revealed probiotic administration could ameliorate glycemic control of patients with diabetic nephropathy, potentiating its therapeutic potential in clinical application.     

Multicomponent supplement containing Chlorella decreases arterial stiffness in healthy young men

Chlorella, a unicellular green alga, contains various antioxidants and other nutrients such as amino acids and fiber. Previous studies have reported that supplementation with multiple antioxidants reduces arterial stiffness, a well-established cardiovascular risk factor. We investigated the effects of Chlorella intake on arterial stiffness using a single-blinded, placebo-controlled crossover study design. Fourteen young men took placebo or Chlorella tablets for four weeks, with a 12-week washout period between trials, in a randomized order. Before and after each trial, blood pressure, heart rate, and brachial-ankle pulse wave velocity, an index of arterial stiffness, were measured. Treatment compliance was comparable between the two groups. There were no differences in blood pressure and heart rate before and after supplementation in both the placebo and Chlorella groups. Brachial-ankle pulse wave velocity decreased after Chlorella intake (before vs after intake; 11.6 ± 0.2 vs 11.1 ± 0.1 m/s, p = 0.01), but not after placebo intake (11.4 ± 0.2 vs 11.4 ± 0.2 m/s, p = 0.98). Multicomponent analysis of the Chlorella-containing tablet detected nutrients that can reduce arterial stiffness, such as antioxidant vitamins, arginine, potassium, calcium, and n-3 unsaturated fatty acids. These results suggest that intake of a Chlorella-containing multicomponent supplement can decrease arterial stiffness.     

Effect of microbubble contrast on intracranial blood flow velocity assessed by transcranial Doppler

Purpose

Ultrasound contrast agents (UCA) salvage a considerable number of transcranial Doppler (TCD) exams which would have failed because of poor bone window. UCA bolus injection causes an undesirable increase in measured blood flow velocity (BFV). The effect of UCA continuous infusion on measured BFV has not been investigated, and some in vitro experiments suggest that gain reduction during UCA administration may also influence measured BFV. This study aimed to investigate the effect of UCA continuous infusion on BFV measured by TCD and the influence of gain reduction on these measurements in a clinical setting.

Methods

The right middle cerebral artery of ten patients with optimal bone window was insonated using a 2 MHz probe. UCA were administered using an infusion pump. BFV was measured (1) at baseline, (2) during UCA infusion, (3) during UCA infusion with gain reduction, and (4) after UCA wash-out phase. Gain reduction was based on the agreement between two neurosonographers on the degree of gain reduction necessary to restore baseline Doppler signal intensity (DSI). Actual DSI was estimated offline by analysis of raw data.

Results

BFV measured during UCA infusion with no gain adjustment was significantly higher than baseline BFV [peak systolic velocity (PSV): 85.1 ± 19.7 vs. 74.4 ± 19.7 cm/s, p < 0.0001; Mean velocity (MV): 56.5 ± 11.8 vs. 50.2 ± 12.3 cm/s, p < 0.0001]. BFV measured during UCA infusion with gain reduction was not significantly higher than baseline BFV (PSV: 74.3 ± 18.9 vs. 74.4 ± 19.4 cm/s, p = 0.8; MV: 49.4 ± 11.0 vs. 50.2 ± 12.3 cm/s, p = 0.8). Actual DSI during UCA infusion with gain reduction was not significantly higher than baseline DSI (13 ± 1 vs. 13 ± 1 dB).

Conclusion

This study shows that UCA continuous infusion leads to an increase in measured BFV which may be counteracted by reducing Doppler gain thus restoring pre-contrast DSI.     

Association of ANGPTL3 polymorphisms with high‐density lipoprotein cholesterol uptake capacity in patients with cardiovascular disease

IntroductionPrevious studies have shown the importance of angiopoietin‐like 3 (ANGPTL3) as a modulator of lipid profiles. Cholesterol uptake capacity (CUC) is one means for assessing high‐density lipoprotein (HDL) functionality. This study for the first time has investigated the relationship between genetic ANGPTL3 polymorphism and CUC in patients with cardiovascular disease.MethodsFive hundred three subjects comprising 350 healthy subjects and 153 individuals who developed a cardiovascular disease (CVD) event during follow‐up were recruited as part of the Mashhad Stroke and Heart Atherosclerotic Disorder (MASHAD) cohort study. A modified CUC method was used to determine the CUC of serum samples. Applied amplification refractory mutation system PCR was performed for ANGPTL3 variants genotyping including: rs10789117, rs1748195, and rs11207997. Sanger sequencing was applied to confirm the genotypes.ResultsThe results showed that there was a significant relationship between the rs1748195 genotypes and HDL concentration in the CVD group (p = 0.02). Moreover, individuals with a GG genotype of the rs1748195 were associated with a lower risk of CVD (OR = 0.49, 95% CI = 0.24–0.98, p = 0.04) compared with CC genotype in the CUC ≤ 1.7 a.u subgroup. Moreover, the CT genotype of rs11207997 was associated with a lower risk of CVD (OR = 0.74, 95% CI = 0.41–1.3, p = 0.01) compared with CC genotype in CUC > 1.7 a.u subgroup.ConclusionThe results showed that the CT genotype of the rs11207997 variant was associated with a lower risk of incident CVD in patients with higher HDL functionality. As well, the rs1748195 gene variant may contribute to a reduced risk of CVD.     

LncRNA UCA1, miR‐26a,and miR‐195 in coronary heart disease patients: Correlation with stenosis degree,cholesterol levels,inflammatory cytokines,and cell adhesion molecules

BackgroundLong noncoding RNA urothelial cancer‐associated 1 (lnc‐UCA1) targets microRNA‐26a (miR‐26a) and microRNA‐195 (miR‐195) to participate in coronary heart disease (CHD) progression via regulation of vascular smooth muscle cell and microvascular endothelial cell viability and mobility. Therefore, this study set out to further explore the relationship between lnc‐UCA1 and miR‐26a and miR‐195, along with their roles in the management of patients with CHD.MethodsOne hundred and thirty‐six CHD patients and 70 age‐/gender‐matched controls were recruited in this case‐control study. Their peripheral blood mononuclear cell samples were collected for lnc‐UCA1, miR‐26a, and miR‐195 measurement. Furthermore, serum samples from CHD patients were obtained for inflammatory cytokines and cell adhesion molecules measurement. The Gensini score was used to evaluate the stenosis severity in CHD patients.ResultsLnc‐UCA1 expression tend to be increased, while miR‐26a and miR‐195 expressions were reduced in patients with CHD compared to that of controls (all p < 0.001). In CHD patients, lnc‐UCA1 was negatively correlated with miR‐26a (p < 0.001) and miR‐195 (p = 0.014). Besides, lnc‐UCA1 was positively correlated with Gensini score (p < 0.001), total cholesterol (p = 0.019), low‐density lipoprotein cholesterol (p = 0.002), and C‐reactive protein (p < 0.001), while miR‐26a (p < 0.001) and miR‐195 (p = 0.002) were negatively correlated with Gensini score. What''s more, lnc‐UCA1 was positively correlated with tumor necrosis factor (TNF)‐α (p = 0.004), interleukin (IL)‐1β (p = 0.041), vascular cell adhesion molecule‐1 (VCAM‐1) (p = 0.010), and intercellular adhesion molecule‐1 (ICAM‐1) (p < 0.001). While miR‐26a was negatively correlated with some of the individual inflammatory cytokines and cell adhesion molecules.ConclusionLnc‐UCA1, miR‐26a, and miR‐195 may serve as potential biomarkers for CHD management.     

Frequency of serological markers of rheumatoid arthritis in patients with IgA anti‐β2 glycoprotein I antibodies

AimTo determine the frequency of serological markers of RA in patients with anti‐β2 glycoprotein I antibodies (aβ2GPI) of IgA isotype.Material and MethodsA retrospective study was conducted on 67 patients with aβ2GPI‐IgA. Ninety healthy blood donors (HBD) were used as a control group. IgG anti‐cyclic citrullinated peptides antibodies (CCP‐Ab) and rheumatoid factors (RF) IgG, IgA, and IgM were detected by enzyme‐linked immunosorbent assay (ELISA).ResultsSeventeen patients and eight HBD had CCP‐Ab and/or RF (25.4% vs. 8.9%, p = 0.005, CI 95% [14.95; 35.79], odds ratio = 3.5). The frequency of CCP‐Ab was significantly higher in patients than in healthy subjects (14.9% vs. 3.3%, p = 0.009). IgA isotype of RF was significantly higher in patients than in controls (7.5% vs. 0%, p = 0.02). In male patients, CCP‐Ab and/or RF were more frequent than in healthy male subjects (37.5% vs. 11.8%, p = 0.02). In patients, no correlation was found between the levels of aβ2GPI‐IgA and CCP‐Ab (r = 0.082, p = 0.51). There was no correlation between the level aβ2GPI‐IgA and the level of the isotypes of RF (IgG, IgA, and IgM) in patients (r = 0.1, p = 0.37; r = 0.17, p = 0.17 and r = 0.07, p = 0.59 respectively).ConclusionFrequencies of CCP‐Ab and RF are high in patients with aβ2GPI‐IgA suggesting that these patients are susceptible to developing RA.     

SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population

BackgroundSolute carrier family 2 member 3 (SLC2A3), is a member of a superfamily of transport protein genes. SLC2A3 played an important role in embryonic development. Previous research reported SLC2A3 duplication was reportedly associated with congenital syndromic heart defects. However, it is not clear whether the gene is associated with non‐syndromic congenital heart disease. Our study aimed to elucidate the relationship between its variation and congenital heart disease.MethodsGenomic DNA extracted from the peripheral blood leukocytes of two families with CHD were sequenced with whole‐exome sequencing to identify variations, used Sanger sequencing to investigate SLC2A3 variants in 494 Chinese patients with CHD and 576 healthy unrelated individuals.ResultsIn members from the two families, three with CHD had the SLC2A3 (rs3931701) C > T variant. Of the 494 patients with CHD, 394 had gene variants (86 had the TT type and 308 had the CT type). Of the 576 healthy controls, 272 participants had gene variants (36 had the TT type and 236 had the CT type). The TT type [p < 0.0001, odds ratio (OR) =7.262, 95% confidence interval (CI) =4.631–11.388] and CT type (p < 0.0001, OR =3.967, 95% CI =2.991–5.263) of SLC2A3 (rs3931701) significantly increased the risk of sporadic ASD in a Chinese Yunnan population.ConclusionsSingle nucleotide variations of SLC2A3, particularly, the SLC2A3 (rs3931701) C > T variant increased the risk of CHD among the studied population.     

Technical feasibility of real-time elastography to assess the peri-oral region in patients affected by systemic sclerosis

Purpose

To evaluate the technical feasibility of real-time elastography (RTE) to assess the stiffness of the skin of the peri-oral region in patients affected by systemic sclerosis (SSc).

Methods

Six female patients affected by SSc (median age = 52 years) presenting with microstomia and six healthy controls matched for age and sex underwent RTE evaluation of the peri-oral region. Two operators with different experience evaluated the stiffness of the peri-oral region placing the probe in four different positions: parasagittal left (PL), parasagittal right (PR), upper axial (UA), lower axial (LA). Color map was converted into a semi-quantitative scale in which blue = 1, green = 2 and red = 3. Thus, each subject had a variable score ranging from 4 (four positions × value = 1) and 12 (four positions × value = 3). Mann–Whitney U and k statistics were used.

Results

RTE demonstrated that the skin of the peri-oral region of patients affected by SSc was stiffer than that of controls, both overall (6;4–6 [median; 25–75th percentile] vs. 11;9–11, p < 0.001) and for each probe position (PL = 1;1–2 vs. 2;2-3, PR = 1;1–2 vs. 2;2–3, UA = 1;1–2 vs. 2;2–3; LA = 1;1–1 vs. 3;3–3, p ≤ 0.011 for all). Interobserver reproducibility was excellent both overall and for each probe position (k = 1).

Conclusion

RTE is a feasible modality to assess peri-oral region skin stiffness with excellent interobserver reproducibility. Further studies on a larger cohort of patients including more clinical data and measures are warranted to confirm our initial results.     

Correlation between symptomatic improvement and quality of life in patients with reflux and dyspeptic symptoms

We investigated the correlation between symptomatic improvement and quality of life in Japanese gastroesophageal reflux disease patients with PPI. Eighty one patients with reflux and dyspeptic symptom were enrolled. The evaluation of the symptom was used he Frequency Scale for the Symptom of GERD in 3 categories: total score of 12 questions, score related to reflux symptoms, and score related to dyspeptic symptoms and the evaluation of the quality of life was use the 8-item Short Form Health Survey in 2 categories, the physical component summary score and mental component summary score. All patients administered rabeprazole 10 mg/day for 8 weeks. We investigated the correlation between symptomatic improvement with proton pump inhibitor and quality of life. Significant symptomatic improvement was seen in the total score of 12 questions (26.7 ± 8.8 → 17.5 ± 5.9, p<0.0001), score related to reflux symptoms (14.9 ± 5.4 → 9.6 ± 3.6, p<0.0001), and score related to dyspeptic symptoms (11.8 ± 4.3 → 8.0 ± 2.9, p<0.0001). Significant improvement in quality of life was seen in the physical component summary score (47.8 ± 6.6 → 50.0 ± 5.9, p = 0.0209) and mental component summary score (47.4 ± 8.5 → 50.4 ± 5.3, p = 0.0133) with proton pump inhibitor. With proton pump inhibitor, a significant positive correlation was seen between the improvement rates in total score of 12 questions, score related to dyspeptic symptoms and in mental component summary score at 8 weeks (total score of 12 questions: r = 0.275, p = 0.0265, score related to dyspeptic symptoms: r = 0.367, p = 0.0027). In conclusion, quality of life was associated with improvement in dyspeptic symptoms with proton pump inhibitor treatment.