Meta‐analysis of hypercoagulability genetic polymorphisms in perthes disease

Woratanarat, Patarawan; Thaveeratitharm, Charnwit; Woratanarat, Thira; Angsanuntsukh, Chanika; Attia, John; Thakkinstian, Ammarin

doi:10.1002/jor.22473

Cited by 39 publications

(32 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Numerous studies have indicated that disruption of the blood supply to the femoral head is a key pathogenic event resulting in bone necrosis (2,21,22). Thrombophilia and/or decreased fibrinolysis are possible mechanisms that have been investigated as potential causes of LCPD (23)(24)(25). It may be speculated that sequence variations in the eNOS gene could influence nitric oxide production, and thereby affect the progression of LCPD.…”

Section: Introductionmentioning

confidence: 99%

Endothelial nitric oxide synthase gene polymorphism is associated with Legg-Calvé-Perthes disease

Zhao

Liao

et al. 2016

Experimental and Therapeutic Medicine

View full text Add to dashboard Cite

Abstract. The aim of this study was to assess the association of 27-bp variable number tandem repeat (VNTR) polymorphism in intron 4 and G894T polymorphism in exon 7 of the endothelial nitric oxide synthase (eNOS) gene with Legg-Calvé-Perthes disease (LCPD), and to provide a scientific basis for further research into the pathogenic mechanism. A total of 80 patients with LCPD and 100 healthy subjects were recruited in this case-control study. The 27-bp VNTR and G894T polymorphisms of the eNOS gene were genotyped using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism, respectively, followed by agarose gel electrophoresis and DNA sequencing. Allelic and genotypic frequencies were computed in the two groups and subjected to statistical analysis. For the 27-bp VNTR polymorphism, individuals with LCPD showed a higher frequency of the ab genotype [27.5 vs. 14%; odds ratio (OR), 2.33; 95% confidence interval (CI), 1.10-4.92; P=0.024]. For the G894T polymorphism, the LCPD case group showed a higher frequency of the heterozygous genotype GT than the healthy control group (35 vs. 17%; OR, 2.67; 95% CI, 1.33-5.36; P=0.005). The results indicate that these eNOS gene polymorphisms may be a risk factor for LCPD. The 27-bp VNTR polymorphism in intron 4 and G894T polymorphism in exon 7 may be involved in the etiology of LCPD.

show abstract

Section: Introductionmentioning

confidence: 99%

Endothelial nitric oxide synthase gene polymorphism is associated with Legg-Calvé-Perthes disease

Zhao

Liao

et al. 2016

Experimental and Therapeutic Medicine

View full text Add to dashboard Cite

show abstract

“…In contrast, studies relying on the use of EHR data are thought to have greater external validity, having drawn their participants from actual patients receiving regular care in actual health care settings. In such studies, however, participants must be chosen based not only on the eligibility criteria but also upon the availability of sufficient data for extraction [17-19]. Example sufficiency requirements include “a sub-population who have sufficient health record data at institution {X} frequenting the {X} hospital system for routine care” and “total number of individuals that have male gender and serum creatinine 1.5 mg/dL or female gender and serum creatinine 1.3 mg/dL.…”

Section: Introductionmentioning

confidence: 99%

Hidden in plain sight: bias towards sick patients when sampling patients with sufficient electronic health record data for research

Rusanov

Weiskopf

Wang

et al. 2014

BMC Med Inform Decis Mak

102

View full text Add to dashboard Cite

BackgroundTo demonstrate that subject selection based on sufficient laboratory results and medication orders in electronic health records can be biased towards sick patients.MethodsUsing electronic health record data from 10,000 patients who received anesthetic services at a major metropolitan tertiary care academic medical center, an affiliated hospital for women and children, and an affiliated urban primary care hospital, the correlation between patient health status and counts of days with laboratory results or medication orders, as indicated by the American Society of Anesthesiologists Physical Status Classification (ASA Class), was assessed with a Negative Binomial Regression model.ResultsHigher ASA Class was associated with more points of data: compared to ASA Class 1 patients, ASA Class 4 patients had 5.05 times the number of days with laboratory results and 6.85 times the number of days with medication orders, controlling for age, sex, emergency status, admission type, primary diagnosis, and procedure.ConclusionsImposing data sufficiency requirements for subject selection allows researchers to minimize missing data when reusing electronic health records for research, but introduces a bias towards the selection of sicker patients. We demonstrated the relationship between patient health and quantity of data, which may result in a systematic bias towards the selection of sicker patients for research studies and limit the external validity of research conducted using electronic health record data. Additionally, we discovered other variables (i.e., admission status, age, emergency classification, procedure, and diagnosis) that independently affect data sufficiency.

show abstract

“…A meta-analysis[47] held in 2012 investigated factor V Leiden, prothrombin II and methylenetetrahydrofolate reductase (MTHFR) polymorphism as sources of possible genetic aetiology of LCPD. They comprised 12 case-control studies, including 824 children in the Perthes group and 2033 children in the control group.…”

Section: Resultsmentioning

confidence: 99%

Aetiology of Legg-Calvé-Perthes disease: A systematic review

Pavone

Chisari

Vescio

et al. 2019

WJO

View full text Add to dashboard Cite

BACKGROUNDLegg-Calvé-Perthes disease (LCPD) is a clinical condition affecting the femoral head of children during their growth. Its prevalence is set to be between 0.4/100000 to 29.0/100000 children less than 15 years of age with a peak of incidence in children aged from 4 years to 8 years. LCPD aetiology has been widely studied, but it is still poorly understood.AIMTo analyse the available literature to document the up-to-date evidence on LCPD aetiology.METHODSA systematic review of the literature was performed regarding LCPD aetiology, using the following inclusion criteria: studies of any level of evidence, reporting clinical or preclinical results and dealing with the aetiology or pathogenesis of LCPD. Two reviewers searched the PubMed and Science Direct databases from their date of inception to the 20th of May 2018 in accordance with the Preferred Reporting Items for Systemic Reviews and Meta-Analyses guidelines. To achieve the maximum sensitivity of the search strategy, we combined the terms: ‘‘Perthes disease OR LCPD OR children avascular femoral head necrosis” with “pathology OR aetiology OR biomechanics OR genetics” as either key words or MeSH terms.RESULTSWe include 64 articles in this review. The available evidence on LCPD aetiology is still debated. Several hypotheses have been researched, but none of them was found decisive. While emerging evidence showed the role of environmental risk factors and evidence from twin studies did not support a major role for genetic factors, a congenital or acquired predisposition cannot be excluded in disease pathogenesis. One of the most supported theories involved mechanical induced ischemia that evolved into avascular necrosis of the femoral head in sensible patients.CONCLUSIONThe literature available on the aetiology of LCPD presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although a lot of studies focused on the genetic, biomechanical and radiological background of the disease, there is a lack of consensus on one or multiple major actors of the etiopathogenesis. More studies are needed to understand the complex and multifactorial genesis of the avascular necrosis characterizing the disease.

show abstract

Meta‐analysis of hypercoagulability genetic polymorphisms in perthes disease

Cited by 39 publications

References 29 publications

Endothelial nitric oxide synthase gene polymorphism is associated with Legg-Calvé-Perthes disease

Endothelial nitric oxide synthase gene polymorphism is associated with Legg-Calvé-Perthes disease

Hidden in plain sight: bias towards sick patients when sampling patients with sufficient electronic health record data for research

Aetiology of Legg-Calvé-Perthes disease: A systematic review

Contact Info

Product

Resources

About