GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism

2021 ◽  
pp. 1-8
Author(s):  
Junwei Zhong ◽  
Bing You ◽  
Ke Xu ◽  
Xiaohui Zhang ◽  
Yue Xie ◽  
...  
Keyword(s):  
Ocular Albinism ◽  
Phenotypic Characterisation ◽  
Chinese Cohort

Body mass index and risk of all-cause mortality in normotensive and hypertensive adults: The Rural Chinese Cohort Study

2021 ◽  
pp. 1-25
Author(s):  
Qionggui Zhou ◽  
Xuejiao Liu ◽  
Yang Zhao ◽  
Pei Qin ◽  
Yongcheng Ren ◽  
...  
Keyword(s):  
Cohort Study ◽  
Population Based ◽  
Normal Weight ◽  
Sensitivity Analyses ◽  
Hypertension Status ◽  
Moderation Effect ◽  
Increased Risk ◽  
All Cause Mortality ◽  
Chinese Cohort ◽  
The Impact

Abstract Objective: The impact of baseline hypertension status on the BMI–mortality association is still unclear. We aimed to examine the moderation effect of hypertension on the BMI–mortality association using a rural Chinese cohort. Design: In this cohort study, we investigated the incident of mortality according to different BMI categories by hypertension status. Setting: Longitudinal population-based cohort Participants: 17,262 adults ≥18 years were recruited from July to August of 2013 and July to August of 2014 from a rural area in China. Results: During a median 6-year follow-up, we recorded 1109 deaths (610 with and 499 without hypertension). In adjusted models, as compared with BMI 22-24 kg/m2, with BMI ≤18, 18-20, 20-22, 24-26, 26-28, 28-30 and >30 kg/m2, the HRs (95% CI) for mortality in normotensive participants were 1.92 (1.23-3.00), 1.44 (1.01-2.05), 1.14 (0.82-1.58), 0.96 (0.70-1.31), 0.96 (0.65-1.43), 1.32 (0.81-2.14), and 1.32 (0.74-2.35) respectively, and in hypertensive participants were 1.85 (1.08-3.17), 1.67 (1.17-2.39), 1.29 (0.95-1.75), 1.20 (0.91-1.58), 1.10 (0.83-1.46), 1.10 (0.80-1.52), and 0.61 (0.40-0.94) respectively. The risk of mortality was lower in individuals with hypertension with overweight or obesity versus normal weight, especially in older hypertensives (≥60 years old). Sensitivity analyses gave consistent results for both normotensive and hypertensive participants. Conclusions: Low BMI was significantly associated with increased risk of all-cause mortality regardless of hypertension status in rural Chinese adults, but high BMI decreased the mortality risk among individuals with hypertension, especially in older hypertensives.

Elevated triglyceride–glucose index predicts risk of incident ischaemic stroke: The Rural Chinese Cohort Study

2021 ◽  
pp. 101246
Author(s):  
Yang Zhao ◽  
Haohang Sun ◽  
Weidong Zhang ◽  
Yuanlin Xi ◽  
Xuezhong Shi ◽  
...  
Keyword(s):  
Cohort Study ◽  
Ischaemic Stroke ◽  
Triglyceride Glucose Index ◽  
Chinese Cohort

scholarly journals Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

2021 ◽  
pp. bjophthalmol-2021-319084
Author(s):  
Zexu Chen ◽  
Tianhui Chen ◽  
Min Zhang ◽  
Jiahui Chen ◽  
Michael Deng ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Missense Mutations ◽  
Ectopia Lentis ◽  
Phenotype Analysis ◽  
Chinese Cohort ◽  
Fibrillin 1 ◽  
Epidermal Growth ◽  
Dependent Probe

AimsTo identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).MethodsPatients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype–phenotype correlation.ResultsA total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22–42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).ConclusionsThis study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

scholarly journals Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhi-Hua Hong ◽  
Dong-Hui Jin ◽  
Xiao-Jian Yuan ◽  
Yang Zhao ◽  
Hou-Wei Lin ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Abnormality ◽  
Congenital Abnormalities ◽  
Urogenital System ◽  
Urinary System ◽  
Intravenous Pyelography ◽  
Abdominal Organs ◽  
Chinese Cohort ◽  
Urogenital Malformation

Abstract Background This study aimed to retrospectively analyze the correlation between congenital abnormality of the urogenital system and various factors in children with neural tube defects (NTDs). Methods A total of 190 children with congenital NTDs, who were admitted to a hospital from May 2013 to May 2018, were included into the present study. All admitted children with congenital NTDs were carried out routine abdominal B-ultrasound examinations to determine the malformations of the abdominal organs, including the urinary system. Children with a B-ultrasound result of suspected and unsure malformation underwent intravenous pyelography (IVP) and voiding cysto-urethrography (VCU), and this was further confirmed by the CT results. Results The incidence of urogenital malformation was 12.1% (23/190) in children with congenital NTDs. For the 23 children with urogenital malformations, most of these children had no definite urinary system symptoms, while some of these children had multiple incidences of urinary system infections. Conclusions Congenital NTDs are often combined with urogenital malformations, if not specifically searched these may be overlooked. The early detection of these malformations is beneficial to reduce the risk of operation and improve the prognosis.

scholarly journals Phenotypic Characterisation for Growth and Nut Characteristics Revealed the Extent of Genetic Diversity in Wild Macadamia Germplasm

Agriculture ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 680
Author(s):  
Thuy T. P. Mai ◽  
Craig M. Hardner ◽  
Mobashwer M. Alam ◽  
Robert J. Henry ◽  
Bruce L. Topp
Keyword(s):  
Genetic Diversity ◽  
Growth Traits ◽  
Principal Component ◽  
Conservation Strategies ◽  
Wild Germplasm ◽  
Phenotypic Characterisation ◽  
Wide Range ◽  
Genetic And Environmental Factors ◽  
Positive Correlations ◽  
Wild Accessions

Macadamia is a recently domesticated Australian native nut crop, and a large proportion of its wild germplasm is unexploited. Aiming to explore the existing diversity, 247 wild accessions from four species and inter-specific hybrids were phenotyped. A wide range of variation was found in growth and nut traits. Broad-sense heritability of traits were moderate (0.43–0.64), which suggested that both genetic and environmental factors are equally important for the variability of the traits. Correlations among the growth traits were significantly positive (0.49–0.76). There were significant positive correlations among the nut traits except for kernel recovery. The association between kernel recovery and shell thickness was highly significant and negative. Principal component analysis of the traits separated representative species groups. Accessions from Macadamia integrifolia Maiden and Betche, M. tetraphylla L.A.S. Johnson, and admixtures were clustered into one group and those of M. ternifolia F. Muell were separated into another group. In both M. integrifolia and M. tetraphylla groups, variation within site was greater than across sites, which suggested that the conservation strategies should concentrate on increased sampling within sites to capture wide genetic diversity. This study provides a background on the utilisation of wild germplasm as a genetic resource to be used in breeding programs and the direction for gene pool conservation.

scholarly journals Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

2021 ◽  
Author(s):  
Abdullah Aamir ◽  
Helen J. Kuht ◽  
Karen Grønskov ◽  
Brian P. Brooks ◽  
Mervyn G. Thomas
Keyword(s):  
Clinical Utility ◽  
Ocular Albinism

SPINK1 mutations and risk of pancreatic cancer in a Chinese cohort

Pancreatology ◽  
2021 ◽  
Author(s):  
Nan Ru ◽  
Sheng-Yong Wu ◽  
Lei Wang ◽  
Jia-Hui Zhu ◽  
Xiao-Nan Xu ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Chinese Cohort

scholarly journals Disparities between IgG4-related kidney disease and extrarenal IgG4-related disease in a case–control study based on 450 patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Qiaozhu Zeng ◽  
Jingyuan Gao ◽  
Xinyu Zhang ◽  
Aichun Liu ◽  
Zhenfan Wang ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Clinical Laboratory ◽  
Imaging Finding ◽  
Age At Onset ◽  
Female Ratio ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Peking University ◽  
Chinese Cohort ◽  
Male To Female

AbstractWe aimed to compare the demographic, clinical and laboratory characteristics between IgG4-related kidney disease (IgG4-RKD+) and extrarenal IgG4-related disease (IgG4-RKD−) in a large Chinese cohort, as well as describing the radiological and pathological features of IgG4-RKD+. We retrospectively analyzed the medical records of 470 IgG4-related disease (IgG4-RD) patients at Peking University People’s Hospital from January 2004 to January 2020. The demographic, clinical, laboratory, radiological and pathological characteristics between IgG4-RKD+ and IgG4-RKD− were compared. Twenty IgG4-RD patients who had definite etiology of renal impairment including diabetes, hypertension and etc. were excluded. Among the remained 450 IgG4-RD patients, 53 were diagnosed with IgG4-RKD+ . IgG4-RKD+ patients had older age at onset and at diagnosis. Male to female ratio of IgG4-RKD+ patients is significantly higher. In the IgG4-RKD+ group, the most commonly involved organs were salivary gland, lymph nodes and pancreas. It was found that renal function was impaired in approximately 40% of IgG4-RKD+ patients. The most common imaging finding is multiple, often bilateral, hypodense lesions. Male sex, more than three organs involved, and low serum C3 level were risk factors for IgG4-RKD+ in IgG4-RD patients. These findings indicate potential differences in pathogenesis of these two phenotypes.

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