Catecholaminergic Gene Variants: Contribution in ADHD and Associated Comorbid Attributes in the Eastern Indian Probands

Contribution of genes in attention deficit hyperactivity disorder (ADHD) has been explored in various populations, and several genes were speculated to contribute small but additive effects. We have assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, and rs1799732), DRD4 (rs4646984 and rs4646983), and COMT (rs165599 and rs740603) in Indian ADHD subjects with comorbid attributes. Cases were recruited following the Diagnostic and Statistical Manual for Mental Disorders-IV-TR after obtaining informed written consent. DNA isolated from peripheral blood leukocytes of ADHD probands (N=170), their parents (N=310), and ethnically matched controls (n=180) was used for genotyping followed by population- and family-based analyses by the UNPHASED program. DRD4 sites showed significant difference in allelic frequencies by case-control analysis, while DDC and COMT exhibited bias in familial transmission (P<0.05). rs3837091 “AGAG,” rs3735273 “A,” rs1799732 “C,” rs740603 “G,” rs165599 “G” and single repeat alleles of rs4646984/rs4646983 showed positive correlation with co-morbid characteristics (P<0.05). Multi dimensionality reduction analysis of case-control data revealed significant interactive effects of all four genes (P<0.001), while family-based data showed interaction between DDC and DRD2 (P=0.04). This first study on these gene variants in Indo-Caucasoid ADHD probands and associated co-morbid conditions indicates altered dopaminergic neurotransmission in ADHD.

Download Full-text

IBD5 IS STRONGLY ASSOCIATED WITH PEDIATRIC ONSET CROHN??S DISEASE (CD): CONFIRMATION BY FAMILY-BASED ASSOCIATION & CASE CONTROL ANALYSIS FROM A PROSPECTIVE POPULATION-BASED NORTH AMERICAN COHORT

Journal of Pediatric Gastroenterology and Nutrition ◽

10.1097/01.mpg.0000182027.68806.43 ◽

2005 ◽

Vol 41 (4) ◽

pp. 545-546

Author(s):

Subra Kugathasan ◽

U Babusukumar ◽

E McGuire ◽

T Wang ◽

J Nebel ◽

...

Keyword(s):

North American ◽

Population Based ◽

Case Control ◽

Control Analysis ◽

Family Based ◽

Case Control Analysis ◽

North American Cohort ◽

Pediatric Onset

Download Full-text

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

Journal of Neurosurgery ◽

10.3171/2008.6.17603 ◽

2009 ◽

Vol 110 (2) ◽

pp. 239-246 ◽

Cited By ~ 21

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.

Download Full-text

Adjuvant chemotherapy and outcomes in esophageal carcinoma.

Journal of Clinical Oncology ◽

10.1200/jco.2017.35.4_suppl.181 ◽

2017 ◽

Vol 35 (4_suppl) ◽

pp. 181-181

Author(s):

Nadia Saeed ◽

Eric Albert Mellon ◽

Kenneth L Meredith ◽

Sarah E. Hoffe ◽

Ravi Shridhar ◽

...

Keyword(s):

Adjuvant Chemotherapy ◽

Retrospective Review ◽

Single Agent ◽

Case Control ◽

Control Analysis ◽

Single Institution ◽

Significant Difference ◽

Case Control Analysis

181 Background: Neoadjuvant chemoradiation (NCRT) and surgery is standard treatment for esophageal cancer (EC) in the U.S. The role of adjuvant chemotherapy (ACT) is unclear. Providers assign ACT inconsistently, and both its rationales and benefits have yet to be clearly defined. We sought to evaluate rationales and benefits for ACT in EC. Methods: This single institution retrospective review included 382 patients (pts) with EC who were treated at our tertiary referral center. All pts received NCRT and 46 received ACT. We reviewed medical records to obtain demographic and clinical information. Survival outcomes were analyzed with Kaplan-Meier method from date of death or last follow up and log-rank analysis. Case-control analysis was performed using a 2:1 nearest neighbor propensity score matching algorithm, and included 113 pts, 41 of which received ACT. Results: 46 of the 382 pts in our study who received NCRT and surgery for EC also underwent ACT; two pts had single agent paclitaxel, 9 had 5-F/U and leucovorin, 7 had 5-F/U and cisplatin, 5 had carboplatin and paclitaxel, 2 had carboplatin alone, and the remainder had other combinations. Pts who received ACT were younger (med. age = 60.2 v 63.8 yr, p = 0.047), more likely to have adenocarcinoma (91.3% v 85.1%, p = 0.034), and less likely to have positive LNs on pre-treatment EUS (60.1% v 77.4%, p = 0.018). Pts with pCR were less likely to receive further treatment (6.5% v 45.8%, p < 0.001), and pts with R1 resection were more likely to do so (15.2% v 4.2%, p = 0.007). With case-control analysis, no variables were significantly different between the two groups. The median follow-up times for the entire cohort and case-control analysis were 7.98 years and 8.89 years, respectively. There were no significant differences in overall (p = 0.975) or recurrence-free (p = 0.824) survival associated with ACT in either analysis. Conclusions: The role of CT following NCRT and surgical resection in pts with locally advanced ECis unclear. In the largest series to date, our single institution retrospective review found no significant difference in survival in pts who received ACT and those who did not. Prospective studies are needed to further identify the rationales for delivery of ACT, and to investigate any potential survival benefits.

Download Full-text

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene

Translational Psychiatry ◽

10.1038/s41398-018-0343-z ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 4

Author(s):

Ashok Patowary ◽

So Yeon Won ◽

Shin Ji Oh ◽

Ryan R Nesbitt ◽

Marilyn Archer ◽

...

Keyword(s):

Exome Sequencing ◽

Case Control ◽

Control Analysis ◽

Family Based ◽

Case Control Analysis

Download Full-text

Inflammatory vaginitis in women on long-term rituximab treatment for autoimmune disorders

BMC Women s Health ◽

10.1186/s12905-021-01423-0 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Laura Yockey ◽

Sarah Dowst ◽

Reza Zonozi ◽

Noah Huizenga ◽

Patrick Murphy ◽

...

Keyword(s):

B Cell ◽

Side Effect ◽

Case Control ◽

Cell Depletion ◽

Control Analysis ◽

B Cell Depletion ◽

Potential Side Effect ◽

Significant Difference ◽

Case Control Analysis

Abstract Background Consequences of long-term B cell depletion with rituximab are not well understood. We describe inflammatory vaginitis as a potential side effect of long-term rituximab treatment, distinct from previously described vulvovaginal pyoderma gangrenosum. Methods We performed a retrospective analysis of women treated with rituximab for more than 1 year to determine the prevalence and clinical characteristics of vaginitis cases. We conducted a case–control analysis with up to 3 controls for each vaginitis case. Results We identified sixteen inflammatory vaginitis cases. Women with vaginitis were age 23–68 (median 42), primarily being treated for ANCA-associated vasculitis (11/16; 69%). Most reported copious vaginal discharge (100%) and pain with sex (75%). All women with return of circulating B-cells to > 10 cells/mL had complete (5/9) or significant (4/9) improvement in symptoms. In case–control analysis there was no significant difference in length of B-cell depletion, immune parameters, creatinine levels, and history of neutropenia. Conclusion Inflammatory vaginitis is a potential side effect of prolonged continuous B cell depletion with rituximab. More studies are needed to characterize the incidence and etiology of vaginitis among women on long term rituximab therapy and establish a causal relationship.

Download Full-text