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Xiangranggounan is an intensively occupied settlement associated with the Kayue culture on the north-eastern Qinghai-Tibet Plateau. Excavations in 2022 and 2023 revealed five house types with clear stratigraphic relationships that help to expand current understanding of the evolution of prehistoric settlement patterns in harsh plateau environments.
Depression is highly prevalent in haemodialysis patients, and diet might play an important role. Therefore, we conducted this cross-sectional study to determine the association between dietary fatty acids (FA) consumption and the prevalence of depression in maintenance haemodialysis (MHD) patients. Dietary intake was assessed using a validated FFQ between December 2021 and January 2022. The daily intake of dietary FA was categorised into three groups, and the lowest tertile was used as the reference category. Depression was assessed using the Patient Health Questionnaire-9. Logistic regression and restricted cubic spline (RCS) models were applied to assess the relationship between dietary FA intake and the prevalence of depression. As a result, after adjustment for potential confounders, a higher intake of total FA [odds ratio (OR)T3 vs. T1 = 1·59, 95 % confidence interval (CI) = 1·04, 2·46] and saturated fatty acids (SFA) (ORT3 vs. T1 = 1·83, 95 % CI = 1·19, 2·84) was associated with a higher prevalence of depressive symptoms. Significant positive linear trends were also observed (P < 0·05) except for SFA intake. Similarly, the prevalence of depression in MHD patients increased by 20% (OR = 1.20, 95% CI = 1.01–1.43) for each standard deviation increment in SFA intake. RCS analysis indicated an inverse U-shaped correlation between SFA and depression (Pnonlinear > 0·05). Additionally, the sensitivity analysis produced similar results. Furthermore, no statistically significant association was observed in the subgroup analysis with significant interaction. In conclusion, higher total dietary FA and SFA were positively associated with depressive symptoms among MHD patients. These findings inform future research exploring potential mechanism underlying the association between dietary FA and depressive symptoms in MHD patients.
Previous studies suggest a link between vitamin D status and COVID-19 susceptibility in hospitalised patients. This study aimed to investigate whether vitamin D concentrations in elderly individuals were associated with their susceptibility to Omicron COVID-19 incidence, the severity of the disease and the likelihood of reoccurrence during the era of the post-‘zero-COVID-19’ policies in China.
Design:
In this retrospective study, participants were categorised into three groups based on their 25(OH)D concentrations: deficiency (< 20 ng/ml), insufficiency (20 to < 30 ng/ml) and sufficiency (≥ 30 ng/ml). The demographic and clinical characteristics, comorbidities and the incidence rate, reoccurrence rate and severity of Omicron COVID-19 were retrospectively recorded and analysed by using hospital information system data and an online questionnaire survey.
Setting:
China.
Participants:
222 participants aged 60 years or older from a health management centre.
Results:
Our findings revealed significant differences in the incidence (P = 0·03) and recurrent rate (P = 0·02) of Omicron COVID-19 among the three groups. Participants with lower 25(OH)D concentrations (< 20 ng/ml) exhibited higher rates of initial incidence and reoccurrence and a greater percentage of severe and critical cases. Conversely, individuals with 25(OH)D concentrations ≥ 30 ng/ml had a higher percentage of mild cases (P = 0·003). Binary and ordinal logistic regression models indicated that vitamin D supplementation was not a significant risk factor for COVID-19 outcomes.
Conclusions:
In the elderly population, pre-infection vitamin D deficiency was associated with increased susceptibility to incidence, severity of illness and reoccurrence rates of Omicron COVID-19.
This paper retrospectively analysed the prevalence of macrolide-resistant Mycoplasma pneumoniae (MRMP) in some parts of China. Between January 2013 and December 2019, we collected 4,145 respiratory samples, including pharyngeal swabs and alveolar lavage fluid. The highest PCR-positive rate of M. pneumoniae was 74.5% in Beijing, the highest resistance rate was 100% in Shanghai, and Gansu was the lowest with 20%. The highest PCR-positive rate of M. pneumoniae was 74.5% in 2013, and the highest MRMP was 97.4% in 2019; the PCR-positive rate of M. pneumoniae for adults in Beijing was 17.9% and the MRMP was 10.48%. Among the children diagnosed with community-acquired pneumonia (CAP), the PCR-positive and macrolide-resistant rates of M. pneumoniae were both higher in the severe ones. A2063G in domain V of 23S rRNA was the major macrolide-resistant mutation, accounting for more than 90%. The MIC values of all MRMP to erythromycin and azithromycin were ≥ 64 μg/ml, and the MICs of tetracycline and levofloxacin were ≤ 0.5 μg/ml and ≤ 1 μg/ml, respectively. The macrolide resistance varied in different regions and years. Among inpatients, the macrolide-resistant rate was higher in severe pneumonia. A2063G was the common mutation, and we found no resistance to tetracycline and levofloxacin.
Genes involved in melanin production directly impact insect pigmentation and can affect diverse physiology and behaviours. The role these genes have on sex behaviour, however, is unclear. In the present study, the crucial melanin pigment gene black was functionally characterised in an urban pest, the German cockroach, Blattella germanica. RNAi knockdown of B. germanica black (Bgblack) had no effect on survival, but did result in black pigmentation of the thoraxes, abdomens, heads, wings, legs, antennae, and cerci due to cuticular accumulation of melanin. Sex-specific variation in the pigmentation pattern was apparent, with females exhibiting darker coloration on the abdomen and thorax than males. Bgblack knockdown also resulted in wing deformation and negatively impacted the contact sex pheromone-based courtship behaviour of males. This study provides evidence for black function in multiple aspects of B. germanica biology and opens new avenues of exploration for novel pest control strategies.
Findings from observational studies have suggested a possible association between dietary inflammatory index (DII) and risk of gestational diabetes mellitus (GDM) and preeclampsia (PE). However, the results of these studies were inconclusive. A systematic review and meta-analysis was carried out to illuminate this association. Systematic literature search was conducted in PubMed, Web of Science, Cochrane Library, EMBASE, Scopus and other databases from inception until January 2023. The qualities of included studies were assessed using the Newcastle–Ottawa scale. Nine studies (seven cohort, two case–control) were included in the meta-analysis, including 11 423 participants from five different countries. The meta-analysis indicated that a 1-unit increase in the DII score, representing pro-inflammatory diet, was associated with 13 % higher risk of GDM (OR = 1·13; 95 % CI 1·02, 1·25, I2 = 68·4 %, P = 0·004) and 24 % higher risk of PE (OR = 1·24; 95 % CI 1·14, 1·35, I2 = 52·0 %, P = 0·125). Subgroup analysis found that this association was evident among studies with Chinese populations (OR = 1·16; 95 % CI 1·06, 1·28) and studies with mid pregnancy (OR = 1·20; 95 % CI 1·07, 1·34). The findings indicate that pro-inflammatory diet can increase the risk of GDM and PE. Considering some limitations in this study, more studies are needed to verify this association.
It is generally accepted that high-oleic crops have at least 70% oleate. As compared to their normal-oleic counterparts, oil and food products made from high-oleic peanut have better keeping quality and are much healthier. Therefore, high-oleic peanut is well recognized by processors and consumers. However, owing to the limited availability of high-oleic donors, most present-day high-oleic peanut varietal releases merely have F435 type FAD2 mutations. Through screening of a mutagenized peanut population of 15L46, a high-yielding peanut line with desirable elliptical oblong large seeds, using near infrared model for predicting oleate content in individual single seeds, high-oleic peanut mutants were identified. Sequencing FAD2A and FAD2B of the mutants along with the wild type revealed that these mutants possessed G448A FAD2A (F435 type FAD2A mutation) and G558A FAD2B (non-F435 type FAD2B mutation). Expression of the wild and mutated type FAD2B in yeast verified that the functional mutation contributed to the high-oleic phenotype in these mutants. The mutants provided additional high-oleic donors to peanut quality improvement.
Normative data are essential for neuropsychological evaluations, but they are scarce for Mandarin-speaking populations, despite Mandarin being the language with the most native speakers. Several normative data studies have been reported in recent years for Mandarin speakers, who reside in different countries/regions (e.g., mainland China, Taiwan, and Singapore, etc.). This review aims to serve as a reference guide to appropriate norms when working with a Mandarin-speaking patient and to guide future endeavors in test validation and development in areas where studies to date fall short.
Method:
We conducted a systematic review utilizing the PsycInfo, PubMed, and China Knowledge Resource Integrated databases as well as additional literature search through citations. We performed evaluations of the existing norms based on their test selection, cognitive domains covered, sample size, language, regions of participant recruitment, stratification by age/gender/education levels, and reporting of other psychometric properties. We focused on articles that included performance-based tests for adults but excluded those with purely clinical norms or from commercial publishers.
Results:
We reviewed 1155 articles found through literature search and identified 43 articles reporting normative data for this population that met our inclusion criteria. Sixty-five distinctive tests and 127 versions were covered. The results are presented within two detailed tables organized by articles and tests, respectively.
Conclusions:
We discussed the strengths and limitations of these normative reports. Practitioners are recommended to utilize normative data that most closely approximate a test-taker’s cultural and demographic backgrounds. Limitations of the current review are also discussed.
No relevant studies have yet been conducted to explore which measurement can best predict the survival time of patients with cancer cachexia. This study aimed to identify an anthropometric measurement that could predict the 1-year survival of patients with cancer cachexia. We conducted a nested case–control study using data from a multicentre clinical investigation of cancer from 2013 to 2020. Cachexia was defined using the Fearon criteria. A total of 262 patients who survived less than 1 year and 262 patients who survived more than 1 year were included in this study. Six candidate variables were selected based on clinical experience and previous studies. Five variables, BMI, mid-arm circumference, mid-arm muscle circumference, calf circumference and triceps skin fold (TSF), were selected for inclusion in the multivariable model. In the conditional logistic regression analysis, TSF (P = 0·014) was identified as a significant independent protective factor. A similar result was observed in all patients with cancer cachexia (n 3084). In addition, a significantly stronger positive association between TSF and the 1-year survival of patients with cancer cachexia was observed in participants aged > 65 years (OR: 0·94; 95 % CI 0·89, 0·99) than in those aged ≤ 65 years (OR: 0·96; 95 % CI 0·93, 0·99; Pinteraction = 0·013) and in participants with no chronic disease (OR: 0·92; 95 % CI 0·87, 0·97) than in those with chronic disease (OR: 0·97; 95 % CI 0·94, 1·00; Pinteraction = 0·049). According to this study, TSF might be a good anthropometric measurement for predicting 1-year survival in patients with cancer cachexia.
The effect of dietary vitamin D, calcium and dairy products intake on colorectal cancer risk is controversial. This study aims to investigate the associations between dietary vitamin D, calcium, dairy products intake and colorectal cancer risk among Chinese population.
Materials and Methods
During July 2010 to December 2018, 2380 incident, first primary, histologically confirmed colorectal cancer cases and 2389 sex and age-matched (5-year interval) controls were recruited. Dietary intake information was collected by face-to-face interviews using a validated food frequency questionnaire. Energy and other nutrient intakes such as dietary calcium were computed on the basis of the 2002 Chinese Food Composition Table, and the dietary vitamin D intake was calculated according to the United States Department of Agriculture Food Composition Database. Unconditional multivariable logistic regression models were used to calculate the odds ratios (ORs) and 95% confidence interval (CI) after adjusting for various confounders, including socio-demographic characteristics, lifestyle factors, BMI, family history of cancer, energy intake and several nutrient intakes.
Results
The energy-adjusted mean dietary vitamin D, calcium and total dairy products intakes were 5.69μg/d, 406.94mg/d, 4.02g/d for cases and 6.81μg/d, 468.21mg/d, 9.50g/d for controls. Compared with the controls, cases had a lower intake of dietary vitamin D, calcium and total dairy (P < 0.001). A higher intake of dietary vitamin D and calcium was found to be associated with 43% and 51% reduction in colorectal cancer. The ORs of the highest quartile compared with the lowest quartile intake were 0.57 (95% CI: 0.46, 0.70, Ptrend < 0.001) for dietary vitamin D and 0.49 (95% CI: 0.39, 0.61, Ptrend < 0.001) for dietary calcium. We observed a statistically significant inverse association of dairy products intake with colorectal cancer risk. Compared with the lowest tertile, the adjusted ORs for the highest tertile were 0.31 (95% CI: 0.26, 0.38, Ptrend < 0.001) for total dairy. The inverse associations of dietary vitamin D, calcium and dairy products intakes with colorectal cancer risk were observed in both men and women, colon and rectal cancer.
Conclusion
Our study indicated that higher dietary vitamin D, calcium and dairy products intakes were associated with a lower colorectal cancer risk.
Protein content (PC) and oil content (OC) are important breeding traits of soybean [Glycine max (L.) Merr.]. Quantitative trait locus (QTL) mapping for PC and OC is important for molecular breeding in soybean; however, the negative correlation between PC and OC influences the accuracy of QTL mapping. In the current study, a four-way recombinant inbred lines (FW-RILs) population comprising 160 lines derived from the cross (Kenfeng14 × Kenfeng15) × (Heinong48 × Kenfeng19) was planted in eight different environments and PC and OC measured. Conditional and unconditional QTL analyses were carried out by interval mapping (IM) and inclusive complete IM based on linkage maps of 275 simple sequences repeat markers in a FW-RILs population. This analysis revealed 59 unconditional QTLs and 52 conditional QTLs among the FW-RILs. An analysis of additive effects indicated that the effects of 13 protein QTLs were not related to OC, whereas OC affected the expression of 13 and eight QTLs either partially or completely, respectively. Eight QTLs affecting OC were not influenced by PC, whereas six and 26 QTLs were partially and fully affected by PC, respectively. Among the QTLs detected in the current study, two protein QTLs and five oil QTLs had not been previously reported. These findings will facilitate marker-assisted selection and molecular breeding of soybean.
Cruciferous vegetables contain high levels of glucosinolates (GSL) and isothiocyanates (ITC). ITC are known to induce glutathione S-transferases (GST) and thus exert their anticarcinogenic effects. This study explored the combined effects of cruciferous vegetable, GSL and ITC intake and GST polymorphisms on breast cancer risk. A total of 737 breast cancer cases and 756 controls were recruited into this case–control study. OR and 95 % CI were assessed by multivariable logistic regression. Higher cruciferous vegetable, GSL and ITC intakes were inversely associated with breast cancer risk, with adjusted OR of 0·48 (95 % CI 0·35, 0·65), 0·54 (95 % CI 0·40, 0·74) and 0·62 (95 % CI 0·45, 0·84), respectively. Compared with women carrying the GSTP1 rs1695 wild AA genotype and high cruciferous vegetable, GSL or ITC intake, carriers of the AA genotype with low cruciferous vegetable, GSL and ITC intake had greater risk of breast cancer, with adjusted OR of 1·43 (95 % CI 1·01, 1·87), 1·34 (95 % CI 1·02, 1·75) and 1·37 (95 % CI 1·05, 1·80), respectively. Persons with the GSTM1-null genotype and lower intake of cruciferous vegetables, GSL and ITC had higher risk of breast cancer than those with the GSTM1-present genotype and higher intake, with OR of 1·42 (95 % CI 1·04, 1·95), 1·43 (95 % CI 1·05, 1·96) and 1·45 (95 % CI 1·06, 1·98), respectively. Among women possessing the GSTT1-present genotype, low intake of cruciferous vegetables, GSL or ITC was associated with higher risk of breast cancer. But these interactions were non-significant. This study indicated that there were no significant interactions between cruciferous vegetable, GSL or ITC intake and GST polymorphisms on breast cancer risk.
Primary liver cancer is the third leading cause of cancer-related death worldwide. Most patients are diagnosed at late stages with poor prognosis; thus, identification of modifiable risk factors for primary prevention of liver cancer is urgently needed. The well-established risk factors of liver cancer include chronic infection with hepatitis B virus (HBV) or hepatitis C virus (HCV), heavy alcohol consumption, metabolic diseases such as obesity and diabetes, and aflatoxin exposure. However, a large proportion of cancer cases worldwide cannot be explained by current known risk factors. Dietary factors have been suspected as important, but dietary aetiology of liver cancer remains poorly understood. In this review, we summarised and evaluated the observational studies of diet including single nutrients, food and food groups, as well as dietary patterns with the risk of developing liver cancer. Although there are large knowledge gaps between diet and liver cancer risk, current epidemiological evidence supports an important role of diet in liver cancer development. For example, exposure to aflatoxin, heavy alcohol drinking and possibly dairy product (not including yogurt) intake increase, while intake of coffee, fish and tea, light-to-moderate alcohol drinking and several healthy dietary patterns (e.g. Alternative Healthy Eating Index) may decrease liver cancer risk. Future studies with large sample size and accurate diet measurement are warranted and need to consider issues such as the possible aetiological heterogeneity between liver cancer subtypes, the influence of chronic HBV or HCV infection, the high-risk populations (e.g. cirrhosis) and a potential interplay with host gut microbiota or genetic variations.
Few studies have investigated the association between maternal dietary patterns (DP) during pregnancy, derived from reduced-rank regression (RRR), and fetal growth. This study aims to identify DP during pregnancy associated with macro- and micronutrient intakes, using the RRR method, and to examine their relationship with birth weight (BW). We used data of 7194 women from a large-scale cross-sectional survey in Northwest China. Dietary protein, carbohydrate, haem Fe density and the ratio of PUFA and MUFA:SFA were used as the intermediate variables in the RRR model to extract DP. Generalised estimating equation models were applied to evaluate the associations between DP and BW and related outcomes (including BW z-score, low birth weight (LBW) and small for gestational age (SGA)). Four DP during pregnancy were identified. Socio-demographically disadvantaged pregnant women were more likely to have lower BW and lower adherence to DP1 (high legumes, soyabean products, vegetables and animal-source foods, with relative low wheat and oils). Women with medium and high adherence to DP1 had significantly increased BW (medium 28·6 (95 % CI 7·1, 50·1); high 25·2 (95 % CI 2·7, 47·6)) and BW z-score and had significantly reduced risks of LBW and SGA. The associations were stronger among women with babies <3100 g. There is no association between other DP and outcomes. Higher adherence to the DP that was high in legumes, soyabean products, vegetables and animal-source foods was associated with improved BW in the Chinese pregnant women, particularly among those with disadvantageous socio-demographic conditions.
To evaluate the effects of gestational weight gain (GWG) in the first trimester (GWG-F) and the rate of gestational weight gain in the second trimester (RGWG-S) on gestational diabetes mellitus (GDM), exploring the optimal GWG ranges for the avoidance of GDM in Chinese women.
Design:
A population-based prospective study was conducted. Gestational weight was measured regularly in every antenatal visit and assessed by the Institute of Medicine (IOM) criteria (2009). GDM was assessed with the 75-g, 2-h oral glucose tolerance test at 24–28 weeks of gestation. Multivariable logistic regression was performed to assess the effects of GWG-F and RGWG-S on GDM, stratified by pre-pregnancy BMI. In each BMI category, the GWG values corresponding to the lowest prevalence of GDM were defined as the optimal GWG range.
Setting:
Southwest China.
Participants:
Pregnant women (n 1910) in 2017.
Results:
After adjusting for confounders, GWG-F above IOM recommendations increased the risk of GDM (OR; 95 % CI) among underweight (2·500; 1·106, 5·655), normal-weight (1·396; 1·023, 1·906) and overweight/obese women (3·017; 1·118, 8·138) compared with women within IOM recommendations. No significant difference was observed between RGWG-S and GDM (P > 0·05) after adjusting for GWG-F based on the previous model. The optimal GWG-F ranges for the avoidance of GDM were 0·8–1·2, 0·8–1·2 and 0·35–0·70 kg for underweight, normal-weight and overweight/obese women, respectively.
Conclusions:
Excessive GWG in the first trimester, rather than the second trimester, is associated with increased risk of GDM regardless of pre-pregnancy BMI. Obstetricians should provide more pre-emptive guidance in achieving adequate GWG-F.
We aimed to comprehensively examine the association of breast-feeding, types and initial timing of complementary foods with adolescent cognitive development in low- and middle-income countries. We conducted a prospective cohort study of 745 adolescents aged 10–12 years who were born to women who participated in a randomised trial of prenatal micronutrient supplementation in rural Western China. An infant feeding index was constructed based on the current WHO recommendations. Full-scale intelligence quotient (FSIQ) was assessed and derived by the fourth edition of the Wechsler Intelligence Scale for Children. The duration of exclusive or any breast-feeding was not significantly associated with adolescent cognitive development. Participants who regularly consumed Fe-rich or Fe-fortified foods during 6–23 months of age had higher FSIQ than those who did not (adjusted mean differences 4·25; 95 % CI 1·99, 6·51). For cows’/goats’ milk and high protein-based food, the highest FSIQ was found in participants who initially consumed at 10–12 and 7–9 months, respectively. A strong dose–response relationship of the composite infant feeding index was also identified, with participants in the highest tertile of overall feeding quality having 3·03 (95 % CI 1·37, 4·70) points higher FSIQ than those in the lowest tertile. These findings suggest that appropriate infant feeding practices (breast-feeding plus timely introduction of appropriate complementary foods) were associated with significantly improved early adolescent cognitive development scores in rural China. In addition, improvement in Fe-rich or Fe-fortified foods complementary feeding may produce better adolescent cognitive development outcomes.
The effects of dietary vitamin D, Ca and dairy products intakes on colorectal cancer risk remain controversial. The present study investigated the association between these dietary intakes and the risk of colorectal cancer in Guangdong, China. From July 2010 to December 2018, 2380 patients with colorectal cancer and 2389 sex- and age-matched controls were recruited. Dietary intake data were collected through face-to-face interviews using a validated FFQ. Unconditional multivariable logistic regression models were used to calculate the OR and 95 % CI after adjusting for various confounders. Higher dietary vitamin D and Ca intakes were associated with 43 and 52 % reductions in colorectal cancer risk, with OR of 0·57 (95 % CI 0·46, 0·70) and 0·48 (95 % CI 0·39, 0·61), respectively, for the highest quartile (v. the lowest quartile) intakes. A statistically significant inverse association was observed between total dairy product intake and colorectal cancer risk, with an adjusted OR of 0·32 (95 % CI 0·27, 0·39) for the highest v. the lowest tertile. Subjects who drank milk had a 48 % lower risk of colorectal cancer than those who did not (OR 0·52, 95 % CI 0·45, 0·59). The inverse associations of dietary vitamin D, Ca, total dairy products and milk intakes with the risk of colorectal cancer were independent of sex and cancer site. Our study supports the protective effects of high dietary vitamin D, Ca and dairy products intakes against colorectal cancer in a Chinese population.
Few studies have examined the association of various types of Fe with colorectal cancer risk. The aim of this study was to investigate different forms and sources of Fe in relation to colorectal cancer risk in a Chinese population. A total of 2138 patients with colorectal cancer and 2144 sex- and age-matched (5-year interval) controls were recruited from July 2010 to November 2017. Dietary information was assessed by face-to-face interviews using a validated FFQ. Multivariable logistic regression was used to estimate the OR and 95 % CI on models. Intake of Fe from plants and Fe from white meat were inversely associated with the risk of colorectal cancer, while haem Fe and Fe from red meat were positively associated with colorectal cancer risk. The multivariable OR for the highest quartile v. the lowest quartile were 0·72 (95 % CI 0·59, 0·87, Ptrend<0·001) for Fe from plants, 0·54 (95 % CI 0·45, 0·66, Ptrend<0·001) for Fe from white meat, 1·26 (95 % CI 1·04, 1·53, Ptrend=0·005) for haem Fe and 1·83 (95 % CI 1·49, 2·24, Ptrend<0·001) for Fe from red meat intake, respectively. However, no significant association was found between the consumption of total dietary Fe, non-haem Fe, Fe from meat and colorectal cancer risk. This study showed that lower intake of Fe from plants and white meat, as well as higher intake of haem Fe and Fe from red meat, were associated with colorectal cancer risk in a Chinese population.
We previously reported four heterozygous missense mutations of MYH7, KCNQ1, MYLK2, and TMEM70 in a single three-generation Chinese family with dual Long QT and hypertrophic cardiomyopathy phenotypes for the first time. However, the clinical course among the family members was various, and the potential myocardial dysfunction has not been investigated.
Objectives
The objective of this study was to investigate the echocardiographic and electrocardiographic characteristics in a genetic positive Chinese family with hypertrophic cardiomyopathy and further to explore the association between myocardial dysfunction and electric activity, and the identified mutations.
Methods
A comprehensive echocardiogram – standard two-dimensional Doppler echocardiography and three-dimensional speckle tracking echocardiography – and electrocardiogram were obtained for members in this family.
Results
As previously reported, four missense mutations – MYH7-H1717Q, KCNQ1-R190W, MYLK2-K324E, and TMEM70-I147T – were identified in this family. The MYH7-H1717Q mutation carriers had significantly increased left ventricular mass indices, elevated E/e’ ratio, deteriorated global longitudinal stain, but enhanced global circumferential and radial strain compared with those in non-mutation patients (all p<0.05). The KCNQ1-R190W carriers showed significantly prolonged QTc intervals, and the MYLK2-K324E mutation carriers showed inverted T-waves (both p<0.05). However, the TMEM70-I147T mutation carriers had similar echocardiography and electrocardiographic data as non-mutation patients.
Conclusions
Three of the identified four mutations had potential pathogenic effects in this family: MYH7-H1717Q was associated with increased left ventricular thickness, elevated left ventricular filling pressure, and altered myocardial deformation; KCNQ1-R190W and MYLK2-K324E mutations were correlated with electrocardiographic abnormalities reflected in long QT phenotype and inverted T-waves, respectively.