scholarly journals Association of Mitochondrial DNA Genomic Variation With Risk of Pick Disease

Neurology ◽  
2021 ◽  
Vol 96 (13) ◽  
pp. e1755-e1760
Author(s):  
Rebecca R. Valentino ◽  
Michael G. Heckman ◽  
Patrick W. Johnson ◽  
Matthew C. Baker ◽  
Alexandra I. Soto-Beasley ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mayo Clinic ◽  
Case Control ◽  
Control Analysis ◽  
Healthy Controls ◽  
Mitochondrial Haplogroups ◽  
Mtdna Haplogroups ◽  
Increased Risk ◽  
Pick Disease ◽  
Mtdna Haplogroup

ObjectiveTo determine whether stable polymorphisms that define mitochondrial haplogroups in mitochondrial DNA (mtDNA) are associated with Pick disease risk, we genotyped 52 pathologically confirmed cases of Pick disease and 910 neurologically healthy controls and performed case-control association analysis.MethodsFifty-two pathologically confirmed cases of Pick disease from Mayo Clinic Florida (n = 38) and the University of Pennsylvania (n = 14) and 910 neurologically healthy controls collected from Mayo Clinic Florida were genotyped for unique mtDNA haplogroup-defining variants. Mitochondrial haplogroups were determined, and in a case-control analysis, associations of mtDNA haplogroups with risk of Pick disease were evaluated with logistic regression models that were adjusted for age and sex.ResultsNo individual mtDNA haplogroups or superhaplogroups were significantly associated with risk of Pick disease after adjustment for multiple testing (p < 0.0021, considered significant). However, nominally significant (p < 0.05) associations toward an increased risk of Pick disease were observed for mtDNA haplogroup W (5.8% cases vs 1.6% controls, odds ratio [OR] 4.78, p = 0.020) and subhaplogroup H4 (5.8% cases vs 1.2% controls, OR 4.82, p = 0.021).ConclusionOur findings indicate that mtDNA variation is not a disease driver but may influence disease susceptibility. Ongoing genetic assessments in larger cohorts of Pick disease are currently underway.

scholarly journals Association of mitochondrial DNA haplogroup and hearing impairment with aging in Japanese general population of the Iwaki Health Promotion Project

2022 ◽  
Author(s):  
Shiori Miura ◽  
Akira Sasaki ◽  
Shuya Kasai ◽  
Takayuki Sugawara ◽  
Yasunori Maeda ◽  
...  
Keyword(s):  
Health Promotion ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
General Population ◽  
Multiple Logistic Regression Analysis ◽  
Mtdna Haplogroups ◽  
Age Related ◽  
Increased Risk ◽  
Japanese General Population ◽  
Mtdna Haplogroup

AbstractAge-related hearing loss (ARHL) is a complex multifactorial disorder. Studies in animals, including mitochondria-mutator mice, and in human suggest that oxidative stress and mitochondrial disturbance play an important role in the pathoetiology of ARHL. Mitochondrial DNA (mtDNA) haplogroups are populations with genetically similar traits, and they have been reported to affect the mitochondrial function of oxidative phosphorylation. To gain further insights into the relationships between mitochondrial haplotypes and the susceptibility to cochlear aging, in this study, we aimed to elucidate how the differences in mtDNA haplogroups may affect ARHL development in Japanese general population. We focused on early onset ARHL, as the same mtDNA haplogroup can show either a negative or positive effect on systemic co-morbidities of ARHL that appear later in life. A total of 1167 participants of the Iwaki Health Promotion Project were surveyed in 2014, and 12 major haplotype groups (D4a, D4b, D5, G1, G2, M7a, M7b, A, B4, B5, N9, and F) were selected for the analysis. A total of 698 subjects aged 30 to 65 years were included in the statistical analysis, and the hearing loss group consisted of 112 males (40.3%) and 111 females (26.4%). Multiple logistic regression analysis showed that the male subjects belonging to haplogroup A had a significantly increased risk of hearing loss, whereas the female subjects belonging to haplogroup N9 had a significantly decreased risk of hearing loss. These results suggested that the mtDNA haplogroup may be an indicator for future risk of morbidity associated with ARHL.

ACE inhibitor use and risk of cataract: a case–control analysis

2019 ◽  
Vol 103 (11) ◽  
pp. 1561-1565 ◽  
Author(s):  
Claudia Becker ◽  
Susan S Jick ◽  
Christoph R Meier
Keyword(s):  
Observational Study ◽  
Index Date ◽  
Antihypertensive Drugs ◽  
Conditional Logistic Regression ◽  
Case Control ◽  
Sensitivity Analyses ◽  
Practice Research ◽  
Clinical Practice Research Datalink ◽  
Control Analysis ◽  
Increased Risk

Background/AimUse of ACE inhibitors (ACEIs) has been associated with an increased risk of cataract in a previous observational study in humans. In contrast, ACEIs were associated with beneficial effects on cataract development in experimental studies. We assessed the risk of cataract in relation to exposure to ACEI and other antihypertensive drugs.MethodsThis is a case-control study based on data from the UK-based Clinical Practice Research Datalink (CPRD). We included first-time cataract patients aged ≥40 years between 1995 and 2015 and an equal number of cataract-free controls. We matched the controls to cases on age, sex, general practice, date of first cataract (ie, index date) and years of history in the CPRD prior to the index date. We assessed the number of prescriptions for ACEI and other antihypertensive drugs in detail and explored the use of single ACEI substances. We performed conditional logistic regression and conducted various sensitivity analyses to test the robustness of our findings. We calculated the risk of cataract associated with previous exposure to ACEI, measured as OR with 95% CIs, and adjusted the multivariable model for body mass index, smoking, diabetes, hypertension, prescriptions of systemic corticosteroids and other antihypertensive drugs.ResultsWe identified 206 931 cataract cases and the same number of matched controls. Use of ACEI was not associated with a materially altered risk of cataract compared with non-use of ACEI, neither in the main analysis (OR 1.06, 95% CI 1.04 to 1.08) nor in any of the sensitivity or stratified analyses.ConclusionIn our large observational study, use of ACEI was not associated with an altered risk of cataract.

scholarly journals Lymphoma in patients treated with anti-TNF: results of the 3-year prospective French RATIO registry

2009 ◽  
Vol 69 (2) ◽  
pp. 400-408 ◽  
Author(s):  
X Mariette ◽  
F Tubach ◽  
H Bagheri ◽  
M Bardet ◽  
J M Berthelot ◽  
...  
Keyword(s):  
Hodgkin’S Lymphoma ◽  
Inflammatory Diseases ◽  
Antibody Therapy ◽  
Case Control ◽  
Hodgkin's Lymphoma ◽  
Control Analysis ◽  
Barr Virus ◽  
Increased Risk ◽  
Epstein Barr ◽  
Case Control Analysis

Objective:To describe cases of lymphoma associated with anti-TNF therapy, identify risk factors, estimate the incidence and compare the risks for different anti-TNF agents.Methods:A national prospective registry was designed (Research Axed on Tolerance of bIOtherapies; RATIO) to collect all cases of lymphoma in French patients receiving anti-TNF therapy from 2004 to 2006, whatever the indication. A case–control analysis was conducted including two controls treated with anti-TNF per case and an incidence study of lymphoma with the French population was used as the reference.Results:38 cases of lymphoma, 31 non-Hodgkin’s lymphoma (NHL) (26 B cell and five T cell), five Hodgkin’s lymphoma (HL) and two Hodgkin’s-like lymphoma were collected. Epstein–Barr virus was detected in both of two Hodgkin’s-like lymphoma, three of five HL and one NHL. Patients receiving adalimumab or infliximab had a higher risk than those treated with etanercept: standardised incidence ratio (SIR) 4.1 (2.3–7.1) and 3.6 (2.3–5.6) versus 0.9 (0.4–1.8). The exposure to adalimumab or infliximab versus etanercept was an independent risk factor for lymphoma in the case–control study: odds ratio 4.7 (1.3–17.7) and 4.1 (1.4–12.5), respectively. The sex and age-adjusted incidence rate of lymphoma was 42.1 per 100 000 patient-years. The SIR was 2.4 (95% CI 1.7 to 3.2).Conclusion:The two to threefold increased risk of lymphoma in patients receiving anti-TNF therapy is similar to that expected for such patients with severe inflammatory diseases. Some lymphomas associated with immunosuppression may occur, and the risk of lymphoma is higher with monoclonal-antibody therapy than with soluble-receptor therapy.

scholarly journals Using random forests to understand unrecognized progression to late-stage CKD, a case-control study

2021 ◽  
Author(s):  
Christopher Hane ◽  
Stephan Dunning ◽  
Jeffrey McPheeters ◽  
David Mosely ◽  
Jennifer St. Clair Russell ◽  
...  
Keyword(s):  
Random Forests ◽  
Late Stage ◽  
Early Stage ◽  
Case Control ◽  
Care Utilization ◽  
Control Group ◽  
Control Analysis ◽  
Fee For Service ◽  
Home Dialysis ◽  
Increased Risk

Abstract Background and objectives Patients with undiagnosed CKD are at increased risk of suboptimal dialysis initiation and therefore reduced access to home dialysis and transplantation as well as poor outcomes. Improved understanding of how patients remain undiagnosed is important to determine better intervention strategies. Design, setting, participants, and measurements A retrospective, matched, case-control analysis of 1,535,053 patients was performed to identify factors differentiating 4 patient types: unrecognized late-stage CKD, recognized late-stage CKD, early-stage CKD and a control group without CKD. The sample included patients with commercial insurance, Medicare Advantage, and Medicare fee-for service coverage. Patient demographics, comorbidities, health care utilization, and prescription use were analyzed using random forests to determine the most salient features discriminating the types. Models were built using all four types, as well as pairwise for each type versus the unrecognized late-stage type. Results Area under the curve for the three pairwise models (unrecognized late-stage vs recognized late-stage; unrecognized late-stage vs early-stage; unrecognized late-stage vs no CKD) were 82%, 68% and 82%. Conclusions The lower performance of the unrecognized late-stage vs early-stage model indicates a greater similarity of these two patient groups. The unrecognized late-stage CKD group is not simply avoiding or unable to get care in a manner distinguishable from the early-stage group. New outreach for CKD to undiagnosed or undetected, insured patients should look more closely at patient sets that are like diagnosed early-stage CKD patients.

scholarly journals Subsequent Primary Malignancies Among Myelodysplastic Syndrome Patients Treated with or without Lenalidomide

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 413-413 ◽  
Author(s):  
Dana E Rollison ◽  
Kenneth H. Shain ◽  
Ji-Hyun Lee ◽  
Shalaka S Hampras ◽  
Kate Fisher ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Myelodysplastic Syndrome ◽  
Stock Options ◽  
Research Funding ◽  
Case Control ◽  
Cancer Center ◽  
Control Analysis ◽  
Increased Risk ◽  
Nested Case Control ◽  
Disease Specific

Abstract Introduction: Lenalidomide is approved by the FDA for treatment of transfusion-dependent, lower risk, deletion 5q (del(5q)) MDS patients and used widely in practice for non-del(5q) MDS patients with anemia. Recently, subsequent primary malignancies (SPM) have been reported to be associated with lenalidomide treatment of multiple myeloma, and it is unclear if this observation is disease-specific or more broadly related to a particular therapy. The SPM risk in lenalidomide-treated MDS patients has not been evaluated previously. To investigate whether lenalidomide is associated with an increased risk of SPM in MDS patients, we conducted a large, retrospective cohort study of 1,248 MDS patients treated with or without lenalidomide at the Moffitt Cancer Center (MCC). Methods: Patients treated for MDS at MCC in 2004-2012 were identified through MCC's enterprise wide data warehouse which combined clinical information from a variety of sources, including the Cancer Registry, electronic medical records and disease-specific databases. A total of 1,248 MDS patients, ages 18+ years, were identified, corresponding to International Classification of Diseases for Oncology Third Edition (ICD-O-3) codes 99801, 99803, 99833, 99843, 99853, 99863, 99873, 99891 and 99893. A total of 41 cases of SPM were verified by two hematologists for confirmation of both the baseline MDS diagnosis and the SPM diagnosis. SPM incidence rates were estimated based on the Poisson distribution. Cox proportional hazards ratios (HR) and 95% confidence intervals (CI) were calculated to estimate the age-adjusted association between lenalidomide treatment and SPM in the overall cohort, and stratified by lower versus higher risk IPSS. To obtain additional details on lenalidomide treatment and potential confounders, medical chart abstraction was conducted for all SPM cases in addition to a sample of MDS patients from the baseline cohort who had not developed SPM; these controls were matched to cases 1:1 on age at MDS diagnosis (<60 versus 60+ years), gender, follow-up time (+/- 6 months), date of diagnosis, (+/- 1 year), lower versus higher risk IPSS, and presence or absence of del (5q). Based on the medical record data abstracted for the nested case-control sample, associations between lenalidomide and SPM were estimated using odds ratios (OR) and 95% CI's calculated through conditional logistic regression, with adjustment for age at diagnosis, use of erythroid-stimulating agents (ESA), use of azacitidine and MDS histology. Results: Overall, 1,248 MDS patients were followed for an average of 30 months, including patients treated with (n=210) or without (n=1,038) lenalidomide. Incident SPM's were observed for 5 patients treated with lenalidomide (0.7 per 100 person-years) and 36 patients treated without lenalidomide (1.4 per 100 person-years), corresponding to an age-adjusted HR of 0.53 (95% CI=0.21-1.36) (Figure 1). Of the 41 SPM's observed, 33 were solid tumors comprised of 15 types, and 8 were hematological malignancies other than AML; no differences in SPM risk were observed by type of SPM. When stratified by IPSS, there was no increased risk of SPM observed for patients with low risk or intermediate-1 MDS (HR=0.36, 95% CI=0.11-1.20) nor for patients with intermediate-2 and high risk MDS (HR=2.30, 95% CI=0.45-11.65). Of the 41 SPM cases and 41 matched controls included in the nested case-control analysis, 12.2% (n=5) and 29.3% (n=12) were treated with lenalidomide, respectively, corresponding to an adjusted OR of 0.03 (95% CI=0.01-0.63). Similar associations were observed for lenalidomide whether given as part of first line treatment or subsequent therapy, and for lenalidomide given alone or in combination with other drugs. Conclusion: To our knowledge this is the first report to address rate of SPM among MDS patients treated with lenalidomide. SPM was not associated with lenalidomide treatment among a large cohort of patients with a broad spectrum of MDS diagnoses. Figure 1: Incidence of subsequent primary malignancies (SPM) among patients treated for myelodysplastic syndrome (MDS) with or without lenalidomide, Moffitt Cancer Center 2004-2012 Figure 1:. Incidence of subsequent primary malignancies (SPM) among patients treated for myelodysplastic syndrome (MDS) with or without lenalidomide, Moffitt Cancer Center 2004-2012 Disclosures Rollison: Celgene, Inc.: Research Funding. Off Label Use: Lenalidomide for the treatment of non-del(5q) MDS and/or multiple myeloma. Shain:Envision/Celgene: Research Funding, Speakers Bureau; L&M Healthcare/Onyx/Amgen: Research Funding, Speakers Bureau. Lee:Celgene, Inc.: Research Funding. Hampras:Celgene, Inc: Research Funding. Fisher:Celgene, Inc: Research Funding. Al Ali:Celgene, Inc: Research Funding. Padron:Icyte: Speakers Bureau; Novartis: Speakers Bureau. Lancet:Celgene: Consultancy, Research Funding. Olesnyckyj:Celgene: Employment, stock options Other. Kenvin:Celgene: Employment, stock options Other. Knight:Celgene, Inc: Employment, stock options Other. Dalton:Genentech: Consultancy, Honoraria; Novartis: Consultancy, Honoraria; Celgene, Inc.: Research Funding. List:Celgene, Inc.: Consultancy. Komrokji:Celgene: Consultancy, Research Funding.

scholarly journals Subsequent Primary Malignancies Among Multiple Myeloma Patients Treated with or without Lenalidomide

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 2129-2129 ◽  
Author(s):  
Dana E Rollison ◽  
Rami Komrokji ◽  
Ji-Hyun Lee ◽  
Shalaka S Hampras ◽  
William Fulp ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Clinical Trials ◽  
Stock Options ◽  
Research Funding ◽  
Case Control ◽  
Cancer Center ◽  
Control Analysis ◽  
Increased Risk ◽  
Case Control Analysis ◽  
Nested Case Control

Abstract Introduction: The incidence of subsequent primary malignancies (SPM) associated with lenalidomide treatment of multiple myeloma (MM) outside the context of maintenance therapy post-melphalan is unknown. Three clinical trials reported modest, statistically significant increased risks of SPM associated with lenalidomide treatment in MM patients (Palumbo et al, N Engl J Med, 2012; Attal et al, N Engl J Med, 2012; McCarthy et al, N Engl J Med, 2012). Although these randomized trials are well controlled for potential confounders, they represent a unique population of patients and a specific juxtaposition of lenalidomide use with melphalan; as such, their results are not necessarily generalizable to the broader MM patient population. To investigate whether lenalidomide is associated with an increased risk of SPM in MM patients within a clinical setting in the United States, we conducted a retrospective cohort study of 1,653 MM patients treated with or without lenalidomide at the Moffitt Cancer Center (“MCC”) in Tampa, FL. Methods: Patients treated for MM at MCC from 2004-2012 were identified through Moffitt's enterprise wide data warehouse combining clinical information from several sources, including the Cancer Registry, electronic medical records and disease-specific databases. Among 1,653 MM patients, ages 18 and older, 51 cases of SPM were verified by two hematologists for confirmation of MM and SPM diagnoses. Incidence rates and 95% confidence intervals (CI) for SPM were estimated using a Poisson distribution. Cox proportional hazards ratios (HR) and 95% CIs were calculated to estimate the age-adjusted association between lenalidomide treatment and SPM in the overall cohort, and stratified by ISS. Additional details on lenalidomide treatment and potential confounders were obtained through medical chart abstraction for SPM cases and a subset of MM patients from the baseline cohort who had not developed SPM; these controls were matched to cases 2:1 on age at MM diagnosis (+/- 5 years), gender, follow-up time (+/- 6 months), and date of diagnosis (+/- 1 year). Associations between lenalidomide and SPM in the nested case-control analysis were estimated using odds ratios (OR) and 95% CIs adjusted for age at MM diagnosis, bone marrow transplantation, creatinine levels and personal history of cancer. Results: Overall, 1,653 MM patients were followed for an average of 40 months, including patients treated with (n=846) or without (n=807) lenalidomide. Incident SPMs were observed for 15 patients treated with lenalidomide (0.55 per 100 person-years) and 36 patients treated without lenalidomide (1.27 per 100 person-years), corresponding to an HR of 0.44 (95% CI=0.24-0.80) (Figure 1). Of the 51 SPMs observed, 37 were solid tumors comprising 14 different types, including 9 and 28 in the lenalidomide and no lenalidomide groups, respectively (HR=0.55, 95% CI=0.15-0.69). Of the 14 hematological SPMs observed, 8 were in the lenalidomide group versus 6 in the no lenalidomide group (HR=0.90, 95%CI = 0.31-2.63). Similar associations between lenalidomide and SPM were observed for MM patients with ISS = 1 (HR=0.26, 95% CI=0.06-1.21) and for MM patients with ISS = 2 or 3 (HR=0.20, 95% CI=0.02-1.62). Of the 51 SPM cases and 102 matched controls included in the nested case-control analysis, 33.3% and 74.5% were treated with lenalidomide, respectively (adjusted OR=0.03, 95% CI=0.002-0.34). Similar associations were observed for lenalidomide given as part of first line treatment versus subsequent treatment, and for lenalidomide given alone or in combination with other drugs. (8 cases and 46 controls received melphalan in addition to lenalidomide.) There was no association between lenalidomide and SPM among those treated for >9.1 months (OR=0.05, 95% CI=0.01-0.43), the median treatment duration among controls. Conclusion: Lenalidomide treatment was not associated with an increased risk of SPM among a large cohort of MM patients. It is important to note that in this clinical setting (in 2004-2012) the use of lenalidomide in combination with melphalan and in the maintenance setting was a rare event. This may be a critical factor in the contrast between the results of this study and in the increase in SPMs reported in randomized clinical trials. Figure 1: Incidence of SPM among patients treated for MM with or without lenalidomide, Moffitt Cancer Center, 2004-2012 Figure 1:. Incidence of SPM among patients treated for MM with or without lenalidomide, Moffitt Cancer Center, 2004-2012 Disclosures Rollison: Celgene, Inc.: Research Funding. Off Label Use: Lenalidomide given as treatment for non-del(5q) MDS and/or multiple myeloma . Komrokji:Celgene: Consultancy, Research Funding. Lee:Celgene, Inc.: Research Funding. Hampras:Celgene, Inc: Research Funding. Fulp:Celgene, Inc.: Research Funding. Fisher:Celgene, Inc: Research Funding. Baz:Celgene: Research Funding; BMS: Research Funding; Millenium: Research Funding; Sanofi: Research Funding; Karyopharm: Research Funding. Olesnyckyj:Celgene: Employment, stock options Other. Kenvin:Celgene: Employment, stock options Other. Knight:Celgene, Inc: Employment, stock options Other. Dalton:Celgene, Inc.: Research Funding; Novartis: Consultancy, Honoraria; Genentech: Consultancy, Honoraria. Shain:L&M Healthcare/Onyx/Amgen: Research Funding, Speakers Bureau; Envision/Celgene: Research Funding, Speakers Bureau.

scholarly journals Sarcoidosis and silica dust exposure among men in Sweden: a case–control study

BMJ Open ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. e038926
Author(s):  
Pål Graff ◽  
Johanna Larsson ◽  
Ing-Liss Bryngelsson ◽  
Pernilla Wiebert ◽  
Per Vihlborg
Keyword(s):  
Occupational Exposure ◽  
Case Control Study ◽  
Older Men ◽  
Case Control ◽  
Dust Exposure ◽  
Control Analysis ◽  
Silica Exposure ◽  
Silica Dust ◽  
Increased Risk ◽  
Control Study

ObjectiveTo determine whether occupational exposure to silica dust is associated with an increased risk of developing sarcoidosis.DesignCase–control study of all individuals between 20 and 65 years of age diagnosed with sarcoidosis (D86) in Sweden between 2007 and 2016. Controls were matched to cases (2:1) based on age, sex and county at the time of diagnosis. A Job Exposure Matrix was used to estimate the occupational silica exposure of all cases and controls.SettingMedical and occupational data from the National Outpatient Register were used to implement a case–control analysis, while the two controls used for each case were selected from the National Register of the Total Population. Information about occupation and time of employment were collected from the Swedish Occupational Register.ParticipantsAll men and women aged 20–65 years old who were diagnosed sarcoidosis (D86) from 2007 to 2016 were included and assigned two controls.Main outcomesSilica dust exposure correlates with an increased risk of developing sarcoidosis in men.ResultsThe prevalence of silica exposure at work was statistically significantly higher among male cases than controls (OR 1.27, 95% CI 1.13 to 1.43). For men of an age of 35 years or younger the correlation seems to be stronger (OR 1.48, 95% CI 1.1 to 1.87) than in older men (OR 1.21, 95% CI 1.05 to 1.39). For men older than 35 with exposure to silica the prevalence of sarcoidosis increased with the exposure time, with an OR of 1.44 (95% CI 1.04 to 2.00) for exposure of more than 10 years.ConclusionsOccupational exposure to silica dust seems to increase the risk of sarcoidosis among men between 20 and 65 years of age. The risk is higher among exposed men 35 years or younger and older men with longer exposure (>6 years).

scholarly journals Mitochondrial DNA haplogroups and risk of attention deficit and hyperactivity disorder in European Americans

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Xiao Chang ◽  
Yichuan Liu ◽  
Frank Mentch ◽  
Joseph Glessner ◽  
Huiqi Qu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Attention Deficit ◽  
Odds Ratio ◽  
Meta Analysis ◽  
Mtdna Haplogroups ◽  
Hyperactivity Disorder ◽  
European Americans ◽  
Increased Risk ◽  
Control Study

Abstract Although mitochondrial dysfunction has been implicated in the pathophysiology of attention deficit and hyperactivity disorder ADHD, the role of mitochondrial DNA (mtDNA) has not been extensively investigated. To determine whether mtDNA haplogroups influence risk of ADHD, we performed a case-control study comprising 2076 ADHD cases and 5078 healthy controls, all of whom were European decedents recruited from The Children’s Hospital of Philadelphia (CHOP). Associations between eight major European mtDNA Haplogroups and ADHD risk were assessed in three independent European cohorts. Meta-analysis of the three studies indicated that mtDNA haplogroups K (odds ratio = 0.69, P = 2.24 × 10−4, Pcorrected = 1.79 × 10−3) and U (odds ratio = 0.77, P = 8.88 × 10−4, Pcorrected = 7.11 × 10−3) were significantly associated with reduced risk of ADHD. In contrast, haplogroup HHV* (odds ratio = 1.18, P = 2.32 × 10−3, Pcorrected = 0.019) was significantly associated with increased risk of ADHD. Our results provide novel insight into the genetic basis of ADHD, implicating mitochondrial mechanisms in the pathophysiology of this relatively common psychiatric disorder.

Infection following deep brain stimulator implantation performed in the conventional versus magnetic resonance imaging–equipped operating room

2009 ◽  
Vol 110 (2) ◽  
pp. 239-246 ◽  
Author(s):  
Alessandra Gorgulho ◽  
Catherine Juillard ◽  
Daniel Z. Uslan ◽  
Katayoun Tajik ◽  
Poorang Aurasteh ◽  
...  
Keyword(s):  
Los Angeles ◽  
Mr Imaging ◽  
Operating Room ◽  
Case Control ◽  
Control Analysis ◽  
Deep Brain Stimulator ◽  
Increased Risk ◽  
Significant Difference ◽  
Case Control Analysis ◽  
Deep Brain

Object Risk factors for deep brain stimulator (DBS) infection are poorly defined. Because DBS implants are not frequently performed in the MR imaging–equipped operating room (OR), no specific data about infection of DBS implants performed in the MR imaging environment are available in the literature. In this study the authors focus on the incidence of infection in patients undergoing surgery in the conventional versus MR imaging–equipped OR. Methods To identify cases of DBS-associated infection, the authors performed a retrospective cohort study with nested case-control analysis of all patients undergoing DBS implantation at the University of California Los Angeles Medical Center. Cases of DBS infection were identified using standardized clinical and microbiological criteria. Results Between January 1998 and September 2003, 228 DBSs were implanted. Forty-seven operations (20.6%) were performed in the conventional OR and 181 (79.4%) in the MR imaging–equipped OR. There was definite infection in 13 cases (5.7%) and possible infection in 7 cases (3%), for an overall infection rate of 8.7% (20 of 228 cases). There was no significant difference in infection rates in the conventional (7 [14.89%] of 47) versus MR imaging–equipped OR (13 [7.18%] of 181) (p = 0.7). Staphylococcus aureus was isolated in 62% of cases. Twelve of 13 confirmed cases underwent complete hardware removal. On case-control analysis, younger age (≤ 58.5 years) was a significant predictor of DBS infection (odds ratio 3.4, p = 0.027) Conclusions Infection is a serious complication of DBS implantation and commonly requires device removal for cure. The authors found that DBS implantation can be safely performed in MR imaging–equipped suites, possibly allowing improved lead placement. Young age was associated with an increased risk of DBS infection.

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