scholarly journals UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hui Yang ◽  
Fen Lin ◽  
Zi-kai Chen ◽  
Lin Zhang ◽  
Jia-Xin Xu ◽  
...  
Keyword(s):  
Southern China ◽  
Direct Sequencing ◽  
Asian Population ◽  
Neonatal Hyperbilirubinemia ◽  
Study Cohort ◽  
Uridine Diphosphate ◽  
Coding Region ◽  
Unconjugated Hyperbilirubinemia ◽  
Feeding Method ◽  
Increased Risk

Abstract Background Neonatal hyperbilirubinemia causing jaundice is common in East Asian population. Uridine diphosphate glucuronosyltransferase isoenzyme (UGT1A1) glucuronidates bilirubin and converts the toxic form of bilirubin to its nontoxic form. Method A retrospective study was conducted to review clinical information of ABO hemolysis neonates (ABO HDN) admitted to the Department of Neonatology, referred for neonatal hyperbilirubinemia, in a large general hospital of southern China from 2011 to 2017. Variation status of UGT1A1 was determined by direct sequencing or genotype assays. Result Sixty-nine ABO HDNs were included into the final analysis. UGT1A1 c.211 G > A mutation (UGT1A1*6, p.Arg71Gly, rs4148323) was significantly associated with the increased bilirubin level in ABO HDNs, after adjusted by age, sex and feeding method (P = 0.019 for TBIL, P = 0.02 for IBIL). Moreover, heterozygous and/or homozygous UGT1A1 mutations in the coding sequence region were significantly associated with the increased risk of developing hazardous hyperbilirubinemia (as defined by TSB > 427 umol/L) as compared those with a normal UGT1A1 genotype (ORadj = 9.16, 95%CI 1.99–42.08, P = 0.002) in the study cohort. Conclusion UGT1A1 variant in coding region is actively involved in the pathogenesis of ABO hemolysis related neonatal hyperbilirubinemia. Genetic assessment of UGT1A1 may be useful for clinical diagnosis of neonatal unconjugated hyperbilirubinemia.

scholarly journals UGT1A1 Mutation Association with Increased Bilirubin Levels and Severity of Unconjugated Hyperbilirubinemia in ABO Incompatible Newborns of China

2021 ◽  
Author(s):  
Hui Yang ◽  
Fen Lin ◽  
Zikai Chen ◽  
Lin Zhang ◽  
JiaXin Xu ◽  
...  
Keyword(s):  
Southern China ◽  
Direct Sequencing ◽  
Asian Population ◽  
Neonatal Hyperbilirubinemia ◽  
Study Cohort ◽  
Uridine Diphosphate ◽  
Coding Region ◽  
Unconjugated Hyperbilirubinemia ◽  
Feeding Method ◽  
Increased Risk

Abstract Background: Neonatal hyperbilirubinemia causing jaundice is common in East Asian population. Uridine diphosphate glucuronosyltransferase isoenzyme (UGT1A1) glucuronidates bilirubin and converts the toxic form of bilirubin to its nontoxic form.Method: A retrospective study was conducted to review clinical information of ABO hemolysis neonates (ABO HDN) admitted to the Department of Neonatology, referred for neonatal hyperbilirubinemia, in a large general hospital of southern China from 2011 to 2017. Variation status of UGT1A1 was determined by direct sequencing or genotype assays.Result: Sixty-nine ABO HDNs were included into the final analysis. UGT1A1 c.211 G>A mutation (UGT1A1*6, p.Arg71Gly, rs4148323) was significantly associated with the increased bilirubin level in ABO HDNs, after adjusted by age, sex and feeding method (P=0.019 for TBIL, P=0.021 for IBIL). Moreover, heterozygous and/or homozygous UGT1A1 mutations in the coding sequence region were significantly associated with the increased risk of developing hazardous hyperbilirubinemia (as defined by TSB>427 umol/L) as compared those with a normal UGT1A1 genotype (ORadj=9.16, 95%CI 1.99- 42.08, P=0.002) in the study cohort.Conclusion: UGT1A1 variant in coding region is actively involved in the pathogenesis of ABO hemolysis related neonatal hyperbilirubinemia. Genetic assessment of UGT1A1 may be useful for clinical diagnosis of neonatal unconjugated hyperbilirubinemia.

Increased risk of prostate cancer following sexually transmitted infection in an Asian population

2013 ◽  
Vol 141 (12) ◽  
pp. 2663-2670 ◽  
Author(s):  
S. D. CHUNG ◽  
Y. K. LIN ◽  
C. C. HUANG ◽  
H. C. LIN
Keyword(s):  
Prostate Cancer ◽  
Proportional Hazards ◽  
Asian Population ◽  
Population Based ◽  
Cox Proportional Hazards ◽  
Study Cohort ◽  
Transmitted Infection ◽  
Sexually Transmitted ◽  
Increased Risk ◽  
History Of

SUMMARYThe relationship between sexually transmitted infections (STIs) and prostate cancer (PC) remains inconclusive. Moreover, all such studies to date have been conducted in Western populations. This study aimed to investigate the risk of PC following STI using a population-based matched-cohort design in Taiwan. The study cohort comprised 1055 patients with STIs, and 10 550 randomly selected subjects were used as a comparison cohort. Cox proportional hazards regression analysis revealed that the hazard ratio for PC during the 5-year follow-up period for patients with a STI was 1·95 (95% confidence interval 1·18–3·23), that of comparison subjects after adjusting for urbanization level, geographical region, monthly income, hypertension, diabetes, hyperlipidaemia, obesity, chronic prostatitis, history of vasectomy, tobacco use disorder, and alcohol abuse. We concluded that the risk of PC was higher for men who were diagnosed with a STI in an Asian population.

The GSTM1 and GSTT1 Null Genotypes Increase the Risk for Type 2 Diabetes Mellitus and the Subsequent Development of Diabetic Complications: A Meta-analysis

2018 ◽  
Vol 15 (1) ◽  
pp. 31-43 ◽  
Author(s):  
Sayantan Nath ◽  
Sambuddha Das ◽  
Aditi Bhowmik ◽  
Sankar Kumar Ghosh ◽  
Yashmin Choudhury
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Meta Analysis ◽  
Subsequent Development ◽  
Asian Population ◽  
Gstm1 Null Genotype ◽  
Increased Risk

Background:Studies pertaining to association of GSTM1 and GSTT1 null genotypes with risk of T2DM and its complications were often inconclusive, thus spurring the present study.Methods:Meta-analysis of 25 studies for evaluating the role of GSTM1/GSTT1 null polymorphisms in determining the risk for T2DM and 17 studies for evaluating the role of GSTM1/GSTT1 null polymorphisms in development of T2DM related complications were conducted.Results:Our study revealed an association between GSTM1 and GSTT1 null polymorphism with T2DM (GSTM1; OR=1.37;95% CI =1.10-1.70 and GSTT1; OR=1.29;95% CI =1.04-1.61) with an amplified risk of 2.02 fold for combined GSTM1-GSTT1 null genotypes. Furthermore, the GSTT1 null (OR=1.56;95%CI=1.38-1.77) and combined GSTM1-GSTT1 null genotypes (OR=1.91;95%CI=1.25- 2.94) increased the risk for development of T2DM related complications, but not the GSTM1 null genotype. Stratified analyses based on ethnicity revealed GSTM1 and GSTT1 null genotypes increase the risk for T2DM in both Caucasians and Asians, with Asians showing much higher risk of T2DM complications than Caucasians for the same. </P><P> Discussion: GSTM1, GSTT1 and combined GSTM1-GSTT1 null polymorphism may be associated with increased risk for T2DM; while GSTT1 and combined GSTM1-GSTT1 null polymorphism may increase the risk of subsequent development of T2DM complications with Asian population carrying an amplified risk for the polymorphism.Conclusion:Thus GSTM1 and GSTT1 null genotypes increases the risk for Type 2 diabetes mellitus alone, in combination or with regards to ethnicity.

scholarly journals Vitamin K antagonist anticoagulant usage is associated with increased incidence and progression of osteoarthritis

2021 ◽  
Vol 80 (5) ◽  
pp. 598-604
Author(s):  
Cindy G Boer ◽  
Ingrid Szilagyi ◽  
N Long Nguyen ◽  
Tuhina Neogi ◽  
Ingrid Meulenbelt ◽  
...  
Keyword(s):  
Vitamin K ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Vitamin K Antagonist ◽  
Matrix Gla Protein ◽  
Study Cohort ◽  
Single Nucleotide Variants ◽  
Increased Risk ◽  
Coagulation Proteins ◽  
Clinical Prevention

ObjectivesVitamin K is hypothesised to play a role in osteoarthritis (OA) pathogenesis through effects on vitamin K-dependent bone and cartilage proteins, and therefore may represent a modifiable risk factor. A genetic variant in a vitamin K-dependent protein that is an essential inhibitor for cartilage calcification, matrix Gla protein (MGP), was associated with an increased risk for OA. Vitamin K antagonist anticoagulants (VKAs), such as warfarin and acenocoumarol, act as anticoagulants through inhibition of vitamin K-dependent blood coagulation proteins. VKAs likely also affect the functioning of other vitamin K-dependent proteins such as MGP.MethodsWe investigated the effect of acenocoumarol usage on progression and incidence of radiographic OA in 3494 participants of the Rotterdam Study cohort. We also examined the effect of MGP and VKORC1 single nucleotide variants on this association.ResultsAcenocoumarol usage was associated with an increased risk of OA incidence and progression (OR=2.50, 95% CI=1.94–3.20), both for knee (OR=2.34, 95% CI=1.67–3.22) and hip OA (OR=2.74, 95% CI=1.82–4.11). Among acenocoumarol users, carriers of the high VKORC1(BB) expression haplotype together with the MGP OA risk allele (rs1800801-T) had an increased risk of OA incidence and progression (OR=4.18, 95% CI=2.69–6.50), while this relationship was not present in non-users of that group (OR=1.01, 95% CI=0.78–1.33).ConclusionsThese findings support the importance of vitamin K and vitamin K-dependent proteins, as MGP, in the pathogenesis of OA. Additionally, these results may have direct implications for the clinical prevention of OA, supporting the consideration of direct oral anticoagulants in favour of VKAs.

scholarly journals Exploring the Epidemiology of Cancer after Solid Organ Transplantation (EpCOT): an observational cohort study

BMJ Open ◽  
2021 ◽  
Vol 11 (4) ◽  
pp. e043731
Author(s):  
Adnan Sharif ◽  
Javeria Peracha ◽  
David Winter ◽  
Raoul Reulen ◽  
Mike Hawkins
Keyword(s):  
Organ Transplantation ◽  
Record Linkage ◽  
Solid Organ Transplantation ◽  
Organ Transplant ◽  
Solid Organ Transplant ◽  
Study Cohort ◽  
Solid Organ ◽  
Post Transplantation ◽  
Increased Risk ◽  
Risk Of Cancer

IntroductionSolid organ transplant patients are counselled regarding increased risk of cancer (principally due to their need for lifelong immunosuppression) and it ranks as one of their biggest self-reported worries. Post-transplantation cancer is common, associated with increased healthcare costs and emerging as a leading cause of post-transplant mortality. However, epidemiology of cancer post-transplantation remains poorly understood, with limitations including translating data from different countries and national data being siloed across different registries and/or data warehouses.Methods and analysisStudy methodology for Epidemiology of Cancer after Solid Organ Transplantation involves record linkage between the UK Transplant Registry (from NHS Blood and Transplant), Hospital Episode Statistics (for secondary care episodes from NHS Digital), National Cancer Registry (from cancer registration data hosted by Public Health England) and the National Death Registry (from NHS Digital). Deterministic record linkage will be conducted by NHS Digital, with a fully anonymised linked dataset available for analysis by the research team. The study cohort will consist of up to 85 410 solid organ transplant recipients,who underwent a solid organ transplant in England between 1 January 1985 and 31 December 2015, with up-to-date outcome data.Ethics and disseminationThis study has been approved by the Confidentiality Advisory Group (reference: 16/CAG/0121), Research Ethics Committee (reference: 15/YH/0320) and Institutional Review Board (reference: RRK5471). The results of this study will be presented at national and international conferences, and manuscripts with results will be submitted for publication in high-impact peer-reviewed journals. The information produced will also be used to develop national evidence-based clinical guidelines to inform risk stratification to enable risk-based clinical follow-up.Trial registration numberNCT02991105.

scholarly journals PARP1 rs1136410 Val762Ala contributes to an increased risk of overall cancer in the East Asian population: a meta-analysis

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052199295
Author(s):  
Yijuan Xin ◽  
Liu Yang ◽  
Mingquan Su ◽  
Xiaoli Cheng ◽  
Lin Zhu ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Odds Ratio ◽  
Chinese Population ◽  
Meta Analysis ◽  
Asian Population ◽  
Cancer Type ◽  
East Asians ◽  
Asian Populations ◽  
Increased Risk ◽  
Meta Analyses

Objectives To investigate the association between poly(ADP-ribose) polymerase 1 ( PARP1) rs1136410 Val762Ala and cancer risk in Asian populations, as published findings remain controversial. Methods The PubMed and EMBASE databases were searched, and references of identified studies and reviews were screened, to find relevant studies. Meta-analyses were performed to evaluate the association between PARP1 rs1136410 Val762Ala and cancer risk, reported as odds ratio (OR) and 95% confidence interval (CI). Results A total of 24 studies with 8 926 cases and 15 295 controls were included. Overall, a significant association was found between PARP1 rs1136410 Val762Ala and cancer risk in East Asians (homozygous: OR 1.19, 95% CI 1.06, 1.35; heterozygous: OR 1.10, 95% CI 1.04, 1.17; recessive: OR 1.13, 95% CI 1.02, 1.25; dominant: OR 1.13, 95% CI 1.06, 1.19; and allele comparison: OR 1.09, 95% CI 1.03, 1.15). Stratification analyses by race and cancer type revealed similar results for gastric cancer among the Chinese population. Conclusion The findings suggest that PARP1 rs1136410 Val762Ala may be significantly associated with an increased cancer risk in Asians, particularly the Chinese population.

scholarly journals Intermittent concurrent use of clopidogrel and proton pump inhibitors did not increase risk of adverse clinical outcomes in Chinese patients with coronary artery disease

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wanbing He ◽  
Xiaorong Shu ◽  
Enyi Zhu ◽  
Bingqing Deng ◽  
Yongqing Lin ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Proton Pump Inhibitors ◽  
Proton Pump ◽  
Cox Regression ◽  
Asian Population ◽  
Chinese Patients ◽  
Clinical Event ◽  
Cardiac Events ◽  
Concurrent Use ◽  
Increased Risk

Abstract Background Proton pump inhibitors (PPIs) are frequently prescribed to patients with coronary heart disease (CHD) under antiplatelet therapy to prevent gastrointestinal (GI) bleeding. However, its clinical impact is still under debate, especially in Asian population. This study was undertaken to explore the effects of concurrent use of clopidogrel and PPIs on the clinical outcomes in Chinese patients with CHD in secondary prevention. Methods A single-center retrospective study was conducted in 638 patients with CHD on consecutive clopidogrel therapy for at least 1 year. After 18-month follow-up, adverse clinical events were collected. Cox regression was used to calculate hazard ratios (HR) and 95% confidence interval (CI) for the effect of PPI use on the outcomes. A total of 638 patients were recruited from 2014 to 2015 in this study, among whom 201 were sustained PPI users, 188 were intermittent PPI users and the remaining 249 were non-PPI users. Results Compared with sustained PPI users, intermittent use of PPIs was associated with a lower risk of stroke, major adverse cardiac events (MACE) and net adverse clinical event (NACE) (stroke: adjusted HR: 0.109, 95% CI 0.014–0.878, p = 0.037; MACE: adjusted HR: 0.293, 95% CI 0.119–0.722; p = 0.008; NACE: adjusted HR: 0.357, 95% CI 0.162–0.786, p = 0.011). Subgroup analysis further revealed the benefit of intermittent PPI use was significant in male CHD patients over 60 years old, with hypertension or chronic kidney disease, and undergoing percutaneous coronary intervention during hospitalization. Conclusion The current findings suggest that the intermittent concurrent use of PPIs and clopidogrel is not associated with an increased risk of 18-month adverse clinical outcomes, and intermittent use of PPIs is associated with a lower rate of MACE and NACE.

scholarly journals Adjuvant Hormonotherapy and Cardiovascular Risk in Post-Menopausal Women with Breast Cancer: A Large Population-Based Cohort Study

Cancers ◽  
2021 ◽  
Vol 13 (9) ◽  
pp. 2254
Author(s):  
Matteo Franchi ◽  
Roberta Tritto ◽  
Luigi Tarantini ◽  
Alessandro Navazio ◽  
Giovanni Corrao
Keyword(s):  
Breast Cancer ◽  
Heart Failure ◽  
Adjuvant Therapy ◽  
Large Population ◽  
Positive Association ◽  
Population Based ◽  
Study Cohort ◽  
Increased Risk ◽  
Post Menopausal ◽  
New Diagnosis

Background: Whether aromatase inhibitors (AIs) increase the risk of cardiovascular (CV) events, compared to tamoxifen, in women with breast cancer is still debated. We evaluated the association between AI and CV outcomes in a large population-based cohort of breast cancer women. Methods: By using healthcare utilization databases of Lombardy (Italy), we identified women ≥50 years, with new diagnosis of breast cancer between 2009 and 2015, who started adjuvant therapy with either AI or tamoxifen. We estimated the association between exposure to AI and CV outcomes (including myocardial infarction, ischemic stroke, heart failure or any CV event) by a Cox proportional hazard model with inverse probability of treatment and censoring weighting. Results: The study cohort included 26,009 women starting treatment with AI and 7937 with tamoxifen. Over a median follow-up of 5.8 years, a positive association was found between AI and heart failure (Hazard Ratio = 1.20, 95% CI: 1.02 to 1.42) and any CV event (1.14, 1.00 to 1.29). The CV risk increased in women with previous CV risk factors, including hypertension, diabetes and dyslipidemia. Conclusions: Adjuvant therapy with AI in breast cancer women aged more than 50 years is associated with increased risk of heart failure and combined CV events.

scholarly journals Outcomes of Local Bone Graft and Fixation of Proximal Pole Scaphoid Nascent Nonunions and Nonunions

2020 ◽  
Vol 09 (03) ◽  
pp. 203-208
Author(s):  
Kristin E. Shoji ◽  
F. Joseph Simeone ◽  
Sezai Ozkan ◽  
Chaitanya S. Mudgal
Keyword(s):  
Bone Graft ◽  
Common Mechanism ◽  
Study Cohort ◽  
Proximal Pole ◽  
Scaphoid Fractures ◽  
Local Bone ◽  
Case Series Study ◽  
Increased Risk ◽  
Surgical Fixation ◽  
The Mean

Abstract Background Fractures of the proximal pole of the scaphoid have an increased risk of nonunion due to its tenuous blood supply. The optimal treatment of proximal pole scaphoid nonunions remains controversial. Objectives To review a single surgeon's experience with proximal pole scaphoid nascent nonunions (delayed unions) and nonunions that underwent surgical fixation with a cannulated headless compression screw and local autologous bone graft from the distal radius. Patients and Methods After obtaining Institutional Review Board approval, the electronic medical record of one tertiary care center was queried for patients with the diagnosis of “proximal pole scaphoid fractures” who underwent surgical fixation by a single surgeon over an 11-year period (2006–2017). Fifteen patients met initial query criteria; upon review of records, four patients were excluded due to the acute nature of the fracture, and one was excluded as surgical fixation included a vascularized bone graft. Results The final study cohort consisted of 10 patients with a total of 10 proximal pole scaphoid nonunions. Almost all of the patients in this study were male (9/10 [90%]), and sporting activities were the most common mechanism of injury (8/10 [80%]). Volumetric measurements of the scaphoid fractures on computed tomography (CT) revealed that the mean total volume of the scaphoid was 2.4 ± 0.48 cm3 and the mean volume of the proximal pole fragment was 0.38 ± 0.15 cm3. Postoperative CT scans were performed at a mean of 12.4 weeks (range: 8–16 weeks), with seven (7/10 [70%]) showing signs of complete union and three (3/10 [30%]) demonstrating partial union. None of the patients required additional procedures and there were no complications. Conclusions Our results suggest that proximal pole scaphoid fractures with delayed union and nonunion treated with surgical fixation and autologous local bone graft heal without the need for more complex vascularized procedures. The volume of the proximal pole fragment did not correlate with increased risk of ongoing nonunion after the index procedure. Level of Evidence This is a Level IV, case series study.

scholarly journals Pioglitazone use and Parkinson’s disease: a retrospective cohort study in Taiwan

BMJ Open ◽  
2018 ◽  
Vol 8 (8) ◽  
pp. e023302 ◽  
Author(s):  
Hsiu-Feng Wu ◽  
Li-Ting Kao ◽  
Jui-Hu Shih ◽  
Hui-Han Kao ◽  
Yu-Ching Chou ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cohort Study ◽  
Retrospective Cohort Study ◽  
Retrospective Cohort ◽  
Asian Population ◽  
Secondary Outcome ◽  
Study Cohort ◽  
Patients With Diabetes

ObjectivesMany researchers have expected pioglitazone to serve as an effective neuroprotective agent against Parkinson’s disease (PD). Therefore, we conducted this cohort study to investigate the association between pioglitazone use and PD by using a large Asian population-based dataset in Taiwan.DesignRetrospective cohort study.SettingTaiwan.Participants7906 patients with diabetes who had received pioglitazone were defined as the study cohort, and 7906 matched patients with diabetes who had not received pioglitazone were defined as the comparison cohort.Primary and secondary outcome measuresWe tracked each patient individually over a 5-year follow-up period to identify those diagnosed as having PD during this period. We performed Cox proportional hazard regression analyses to evaluate the HRs for PD between the study and comparison cohorts.ResultsThe findings indicated that among the sampled patients, PD occurred in 257 (1.63%): 119 (1.51%) pioglitazone users and 138 (1.75%) non-users. The adjusted HR for PD within the follow-up period was 0.90 (95% CI: 0.68 to 1.18) in the patients who had received pioglitazone compared with the matched patients who had not received pioglitazone. Moreover, this study revealed that pioglitazone use was not associated with PD incidence in men (HR: 1.06, 95% CI: 0.71 to 1.59) or women (HR: 0.84, 95% CI: 0.61 to 1.15).ConclusionsThis study did not find the relationship between pioglitazone use and PD incidence, regardless of sex, among an Asian population of patients with diabetes.

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