Case-control Comparison Study Research Articles

Ocular Surface Evaluation in Immunoglobulin G4–Related Ophthalmic Disease

To evaluate the functional and structural changes of the meibomian glands and ocular surface in immunoglobulin G4-related ophthalmic disease (IgG4-ROD) patients. Cross-sectional, matched case-control comparison study. This study included 64 patients with biopsy-proven IgG4-ROD (aged 63.4 ± 12.2 years, 39 male) and 64 sex- and age-matched healthy controls. Patients were managed by hospitals covering the publicly funded ophthalmology service in Hong Kong. Outcome measures included anterior segment examination and keratographic and meibographic imagings. A total of 64 worst-affected eyes of the 64 IgG4-ROD patients were analyzed. Corneal fluorescein staining (P=.0187), lid margin telangiectasia (P=.0360), lid-parallel conjunctival folds (P=.0112), papillae (P=.0393), meibomian gland plugging (P=.0001), meibomian gland expressibility (P=.0001), and meibum quality (P=.0001) were more significant in IgG4-ROD patients compared with healthy controls. Both upper and lower meibomian gland dropouts (P=.001 and .0003), and tear meniscus height (P=.0001) were higher in IgG4-ROD patients. Non-invasive tear break-up time (NITBUT) (P=.0166) and Schirmer test results (P=.0243) were lower in IgG4-ROD patients. Upper (r=0.336, P=.0140) meibomian gland dropouts and NITBUT (r=-0.293, P=.0497) were positively and negatively correlated with the IgG4-ROD onset age, respectively. The number of extraocular organ involvement was negatively correlated with the Schirmer test(r=-0.341, P=.0167). Lower NITBUT was found in IgG4-ROD eyes with lacrimal gland enlargement than in IgG4-ROD eyes without lacrimal gland enlargement radiologically (P < .0001). IgG4-ROD patients showed features of both aqueous tear deficiency and evaporative dry eye disease. We recommend ocular surface evaluation to all patients newly diagnosed with IgG4-ROD. Further studies are warranted to clarify the mechanism of IgG4-related dry eye disease.

Macular Ganglion Cell Complex and Peripapillary Retinal Nerve Fiber Layer Thicknesses in Hydroxychloroquine Retinopathy

To investigate macular ganglion cell complex (GCC) and peripapillary retinal nerve fiber layer (RNFL) thicknesses in patients with hydroxychloroquine retinopathy of differing severity. Cross-sectional, case-control comparison study. From patients screened for hydroxychloroquine retinopathy between January 2016 and October 2021 using swept-source optical coherence tomography (SS-OCT), fundus autofluorescence (FAF), and standard automated perimetry, 66 patients with retinopathy and 66 without retinopathy were included by 1:1 propensity score matching based on age, sex, systemic diseases, history of tamoxifen and pentosan use, and kidney disease. Eyes with hydroxychloroquine retinopathy were divided into early, moderate, and severe stages. Inner-retinal thickness parameters, including macular GCC (RNFL + ganglion cell layer + inner plexiform layer) and peripapillary RNFL thicknesses, were automatically obtained using SS-OCT (DRI-OCT Triton, Topcon Inc., Japan) and compared between patients with and without retinopathy and between severity subgroups. The structure-function relationships between GCC or peripapillary RNFL thicknesses and perimetric parameters including mean deviation (MD) and visual field index (VFI) of Humphrey 30-2 test were evaluated. Macular GCC and peripapillary RNFL thickness parameters. The average macular GCC and peripapillary RNFL thicknesses were significantly decreased in patients with hydroxychloroquine retinopathy relative to those without retinopathy. Macular GCC thicknesses in 4 of 6 macular sectors and peripapillary RNFL thicknesses in 9 of 12 clock-hour sectors were significantly different between the groups. The differences in the average and sectoral macular GCC parameters were statistically significant among the severity subgroups, particularly between severe and earlier stages. Average macular GCC and peripapillary RNFL thicknesses significantly correlated with MD and VFI in all patients (all P < .001). Macular GCC and peripapillary RNFL thinning was more prominent in eyes with severe hydroxychloroquine retinopathy, as indicative of inner-retinal thinning in eyes with advanced-stage disease. Further, as inner-retinal thinning showed a significant correlation with worse perimetric function, cautious evaluation of the inner retina may be required for eyes with advanced hydroxychloroquine retinopathy.

Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study

PurposeEndometrial carcinoma is the second most common gynecological malignancy. Until today lacking a screening tool. A blood-based biomarker could help address this need.MethodsThe expression levels of 30 acylcarnitines, 18 amino acids, 6 miRNAs, and 7 DNA methylation sites were measured in blood samples from 331 women (20 EC, 14 benign uterine lesions (benign), 140 breast cancers (BC), 157 controls). Areas under the ROC curves (AUC), sensitivity (sens.) and specificity (spec.) were computed to identify the variables best distinguishing.ResultsThe best top ten markers for the four comparisons (cancer vs. cancer-free; EC vs. BC, EC vs. controls; EC vs. benign), were identified via AUC. Malonylcarnitine distinguished best patients with EC from controls (AUC: 0.827, sens. 80%, spec. 73.1%) or BC (AUC: 0.819, sens. 84.3%, spec. 80%) being most notable. Tryptophan best differentiated benign from EC (AUC: 0.846, sens. 70%, spec. 92.9%).ConclusionsThe levels of the analyzed blood markers yielded promising results in the detection of EC and warrant further evaluation.

Maternal and Neonatal Outcomes of Healthy Pregnant Women With COVID-19 Versus High-risk Pregnant Women: A Multi-Center Case-Control Comparison Study.

The purpose of this retrospective, matched case-control study (two controls [healthy control and high- risk control] vs. COVID-19 cases) was to compare the maternal and neonatal outcomes of pregnant women with and without COVID-19. A total of 261 pregnant women from three different countries with and without COVID-19 were included in this study. Several pregnancy complications were more common in high-risk pregnant women compared to COVID-19 cases and healthy pregnant women. These include preeclampsia (p < .01), vaginal bleeding (p < .05), preterm labor (p < .05), premature rupture of membrane (p < .01), requiring induction of labor (p < .05), have lower gestational age on delivery (F (2) = 3.1, p < .05), requiring cesarean section (p < .01), neonatal admission in the NICU (p < .01), and low neonatal Apgar score (p < .01). Nurses are advised to provide equal attention to pregnant women with underlying health issues and to pregnant women infected with COVID-19 in terms of the risk assessment, health care, and follow-up for optimal maternal and neonatal outcomes.

Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson's disease.

The rs616147 polymorphism of the myelin-associated oligodendrocyte basic protein (MOBP) gene locus has been associated with amyotrophic lateral sclerosis (ALS). ALS and Parkinson's disease (PD) are two common neurodegenerative disorders that share features regarding their etiology, pathophysiology, and genetic backgrounds. While the MOBP rs616147 polymorphism has been associated with ALS, little is known about its role in PD. To assess the role of MOBP rs616147 on PD risk. This case-control comparison study consists of 358 PD-affected cases and 358 controls from the Neurology Clinic of the University Hospital of Larissa, University of Thessaly, Faculty of Medicine, in Greece. The diagnosis of PD was made by a specialist neurologist according to the UK Parkinson's Disease Society Brain Bank's clinical criteria. All the participants were genotyped for the MOBP rs616147. Furthermore, in order to validate our results, we genotyped 327 patients with Alzheimer's disease (AD) for MOBP rs616147 and compared them with the control group. According to the univariate analysis, there was a significant association between rs616147 and PD in the dominant (OR [95% C.I.]=0.70 [0.52-0.94], p=.018), the overdominant (OR [95% C.I.]=0.68 [0.50-0.92], p=.011), and in the codominant (G/A VS G/G; OR [95% C.I.]=0.66 [0.48-0.91], p=.035) modes of inheritance. In contrast, there was no association between the MOBP rs616147 polymorphism and AD. We provide preliminary results associating MOBP rs616147 genetic variant with PD.

Single stage first layer biosynthetic cellulose dressing versus non-adherent gauze management in paediatric burns

IntroductionPaediatric burn is a common emergency presentation with a variety of treatment options available. Major parental concerns include pain, healing and scarring, in addition to high parental anxiety. Epiprotect® is a biosynthetic cellulose-based sheet, applied as a single stage first layer contact dressing following initial debridement. Materials and MethodsA retrospective case control comparison study was carried out in our hospital on 28 patients, 14 with biosynthetic cellulose, and 14 with non-adherent gauze. Pain and parental anxiety were measured by the parental perception of child’s pain on Wong-Baker faces pain rating scale and STAI-6 questionnaire (compatible with the STAI-S scoring system) respectively in first clinic visit during outer dressing change. Scar score was calculated using the Vancouver scar scale (VSS). ResultsPatients in both groups had a similar demographic and clinical distribution of location, mechanism of burn, first aid, surface area and depth of burn. Pain and parental anxiety were significantly reduced in the cellulose dressing group (p = 0.0001). Time to complete healing were similar in both groups. Mean VSS scar score was 4 (1–5) in cellulose dressing group compared to 6 (4–11) in non-adherent gauze group (p = 0.0463). Two patients developed hypertrophied scar in non-adherent gauze group. The mean number of outpatient clinic visits in cellulose dressing group were 2.5 (1–5) as compared to 3 (2–6) in the non-adherent gauze group (p = 0.0607). ConclusionSingle stage first layer application of biosynthetic cellulose dressing is associated with reduced pain, parental anxiety, and improved scarring. The dressing is safe and can be applied to patients with superficial and mixed depth burns.

Case-Control Comparison of Cervical Spine Radiographs From Horses With a Clinical Diagnosis of Cervical Facet Disease With Normal Horses

The accuracy of using radiographs to diagnose cervical facet osteoarthritis (CFA) in horses is undetermined. Further investigation is required to determine the clinical significance of radiographic evidence of CFA, the prevalence of radiographic changes in horses without clinical signs, and the long-term efficacy of intra-articular CFA treatment. The objectives of this study is to compare degenerative changes of the cervical facet joints of the cervical vertebrae on radiographs of horses with clinical signs of CFA with healthy cohort-matched horses, to compare clinical findings between groups, and to obtain follow-up information on the long-term outcome in treated horses. This is a retrospective case-control cohort-matched comparison study of horses treated for cervical facet disease versus horses with no clinical signs of cervical facet disease. Horses diagnosed with CFA and treated with intra-articular injection of corticosteroids were included. Follow-up information on recovery from treatment was obtained via telephone survey of owners/trainers. Healthy horses with no clinical signs of CFA were matched to treated horses by breed, sex, age, and sport as the control group. Two blinded radiologists reviewed cervical spine radiographs for each horse and recorded CFA score and intravertebral/intervertebral measurements. Clinical and radiographic parameters were compared between treatment and control groups. There was a significant difference in CFA grades for C5-6 and C6-7 between horses with presence of clinical signs and healthy horses. However, interobserver agreement between radiologists for grading CFA was moderate and only 56% of values were identical for both observers. Atrophy of the neck was present on clinical examination in most cases in the treatment group. Dressage horses were overrepresented. Overall, 64% of horses returned to their previous level of performance after treatment. Clinical examination data collected for the treatment group were retrospective and were obtained by different clinicians. Eight owners/trainers were not able to be reached for the survey. There was a significant difference in CFA grades for C5-6 and C6-7 between horses with presence of clinical signs and healthy horses. Despite these statistical differences, the clinical diagnosis of CFA based on radiographic grading alone is questionable because of the lack of agreement between the radiologists. To strengthen the diagnosis, clinical signs of facet disease, in particular atrophy of the neck muscles, need to be present to make this diagnosis. Intra-articular corticosteroid injection was effective at allowing most treated horses to return to athletic use..

Robotic versus conventional nipple sparing mastectomy and immediate gel implant breast reconstruction in the management of breast cancer- A case control comparison study with analysis of clinical outcome, medical cost, and patient-reported cosmetic results

Robotic nipple sparing mastectomy (R-NSM), which uses the da Vinci surgical platform, could perform NSM and immediate breast reconstruction through a small and inconspicuous extra-mammary axillary or lateral chest incision. R-NSM was reported with extremely low nipple areolar complex (NAC) necrosis rate, good cosmetic results, and high patient satisfaction. However, there was little evidence available comparing the effectiveness and safety of R-NSM and conventional NSM (C-NSM) in the management of breast cancer. A case control comparison study was conducted for patients with breast cancer who underwent R-NSM or C-NSM with immediate gel implant breast reconstruction (IGBR) from July 2011 to September 2019 at a single institution to compare the clinical outcomes, patient-reported esthetic results, and medical cost. According to the study design, 54 procedures of R-NSM were compared with 62 procedures of C-NSM in the surgical management of breast cancer combined with IGBR. Compared with C-NSM, R-NSM was associated with higher overall satisfaction (92% excellent and 8% good versus 75.6% excellent and 24.4% good, P = 0.046), and wound/scar related outcome in patient-reported esthetic results. The NAC ischemia/necrosis risk, overall complication rate, and blood loss were not significantly different between R-NSM and C-NSM groups. However, longer operation time and higher overall medical cost (10,877 ± 796 versus 5,702 ± 661 US Dollars, P<0.01) was observed in R-NSM group. Compared with C-NSM, R-NSM showed comparable clinical outcomes and favorable patients' satisfaction with the esthetic results, but at the price of longer operation time and higher cost.

Abstract P1-20-12: Robotic versus conventional or endoscopic-assisted nipple sparing mastectomy with immediate prosthesis breast reconstruction in the management of breast cancer- A case control comparison study with analysis of clinical outcomes, patient-reported aesthetic results, and medical cost

Abstract Background: Nipple-sparing mastectomy (NSM), which preserved the nipple areolar complex (NAC) and skin flap during mastectomy, was increasingly performed in breast cancer patients due to better cosmetic outcome, higher patient satisfaction, and maintained oncologic safety. Minimal invasive surgery had become the main stream of operations, and new surgical innovations of NSM, like endoscopic nipple sparing mastectomy (E-NSM) or robotic nipple sparing mastectomy (R-NSM), were emerging and applied in the surgical treatment of breast cancer. However, evidence comparing R-NSM to conventional NSM (C-NSM) or E-NSM was lacking. A case control comparison study was conducted for patients with breast cancer underwent C-NSM, E-NSM, or R-NSM with IPBR at a single institution to compare the clinical outcomes, patient-reported cosmetic results and medical cost. Methods: To compare the efficacy and benefit between R-NSM, C-NSM and E-NSM, a case control comparison study was conducted. Patients with primary operable breast cancer who underwent NSM from January 2011 to May 2019 were retrieved from a prospectively maintained breast cancer database at Changhua Christian Hospital (CCH), a tertiary medical center in Taiwan. To reduce sampling bias from surgical technique or related factors, only patients operated by HWL were enrolled for this comparison analysis. In addition, in order to reduce the possible variations in cosmetic outcomes derived from different types of breast reconstruction, only patients who received immediate cohesive gel implant breast reconstructions were retrieved. Patients who had received previous breast conserving surgery or previous radiation to chest wall were excluded. Results: Altogether, there were a total of 57 patients in the R-NSM with IPBR group, 65 C-NSM and IPBR, and 100 patients in E-NSM with IPBR group in this case control comparison study. The three groups were comparable in terms of age, location of tumor, pathologic tumor size, grade, resected mastectomy weight, and stage of disease. Compared with C-NSM, R-NSM was associated with less blood loss (mean 35 ± 32 versus 104 ± 71 ml, P&amp;lt;0.01) and higher overall satisfaction (96.4% excellent and 3.6% good versus 75.6% excellent and 24.4% good, P=0.02) in patients’ reported cosmetic results. There is a trend (though statistically not significant) of lesser complication rate, and NAC ischemia/necrosis rate of R-NSM if compared with C-NSM. However, longer operation time (mean 247 ± 61 versus 197 ± 80 minutes, P&amp;lt;0.01), and higher over medical cost (10,877 ± 796 versus 5,702 ± 661 US Dollars, P&amp;lt;0.01) was observed in R-NSM group. The surgical margin involvement rate in both R-NSM (1.8%) and E-NSM (4%) procedures were relatively low (P=0.52). R-NSM group was associated with higher satisfaction rates in terms of scar appearance, scar length, and surgical wound position if compared with E-NSM group. Compared with E-NSM, R-NSM took longer operation time (241 ± 61 versus 215 ± 70 mins, P=0.01), less blood loss (32 ± 29 versus 79 ± 62 ml, P&amp;lt;0.01), and higher medical cost (10,587 ± 554 versus 6,855 ± 936 US Dollars, P&amp;lt;0.01). There was no statistically significant difference in nipple ischemia/necrosis or overall complication between R-NSM and E-NSM. Conclusion: R-NSM compared favorably to C-NSM with comparable clinical outcomes, minimal blood loss and higher patients’ satisfaction but at the expense of higher cost and longer operation time. R-NSM was associated with higher would related satisfaction and lesser blood loss if compared with E-NSM, however, at the price of longer operation time and higher medical cost. Citation Format: Hung-Wen Lai, Shou-Tung Chen, Dar-Ren Chen. Robotic versus conventional or endoscopic-assisted nipple sparing mastectomy with immediate prosthesis breast reconstruction in the management of breast cancer- A case control comparison study with analysis of clinical outcomes, patient-reported aesthetic results, and medical cost [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P1-20-12.

Robotic- Versus Endoscopic-Assisted Nipple-Sparing Mastectomy with Immediate Prosthesis Breast Reconstruction in the Management of Breast Cancer: A Case-Control Comparison Study with Analysis of Clinical Outcomes, Learning Curve, Patient-Reported Aesthetic Results, and Medical Cost.

New surgical innovations of nipple-sparing mastectomy (NSM), such as endoscopic NSM (E-NSM) or robotic NSM (R-NSM), were emerging. However, there was a lack of evidence comparing the effectiveness and safety in the management of breast cancer. A case-control comparison study was conducted for patients with breast cancer underwent E-NSM or R-NSM with immediate prosthesis breast reconstruction (IPBR) from July 2010 to February 2019 at a single institution to compare the clinical outcomes, learning curve, patient-reported cosmetic results, and medical cost. A total of 91 E-NSM and 40 R-NSM procedures were retrieved and analyzed. The surgical margin involvement rate in both R-NSM (2.5%) and E-NSM (4.4%) procedures were relatively low (P = 0.52). The R-NSM group was associated with higher satisfaction rates in terms of scar appearance, scar length, and surgical wound position compared with the E-NSM group. Compared with E-NSM, the R-NSM operation time took longer (241 ± 61 vs. 215 ± 70min, P = 0.01), less blood loss (32 ± 29 vs. 79 ± 62ml, P < 0.01), and higher medical cost (10,587 ± 554 vs. 6855 ± 936 U.S. dollars, P < 0.01). There was no statistically significant difference in nipple ischemia/necrosis or overall complication between R-NSM and E-NSM. In the learning curve analysis, it took the 27th procedure in E-NSM and 10th procedure in R-NSM to decrease operation time significantly. R-NSM was associated with higher wound-related satisfaction, lesser blood loss, and shorter learning curve compared with E-NSM, however, at the price of longer operation time and higher medical cost.

Outcomes of primary total knee arthroplasty in patients with Parkinson’s disease: A Case Control Comparison Study

Introduction and Aims:There is considerable debate and a paucity of evidence regarding whether Total Knee Replacement (TKR) is of benefit in patients with Parkinson’s disease (PD) and knee osteoarthritis, and whether PD would compromise the outcome of TKR. Therefore, we aimed to compare the effect of TKR on range of motion and Oxford Knee Scores (OKS) between PD patients and age-matched controls at 1 year follow-up.Methods:A cohort of 45 knees from 35 patients was identified as having a confirmed diagnosis of Parkinson’s disease and received a primary TKR between January 2004 and December 2015, which was extracted from a clinical database (Socrates, v3.5, Orthosoft, AUS) maintained by two orthopaedic surgeons in two hospitals. An age-matched control group (mean age: 73 years) of 45 knees from 41 patients without Parkinson’s disease was randomly computer-generated from the same database. The indication for TKR in both groups was osteoarthritis, an independent assessment of each knee to meet appropriate selection criteria for TKR, as well as preoperative physician review for medical comorbidities. Outcome measures analysed in the study were the difference in pre-operative range of motion (RoM) and 12-point Oxford Knee Scores and at 1-year follow-up respectively. Postoperative complications and revisions were also recorded during the follow-up period.Results:In the PD group, RoM improved from a mean of 100 degrees preoperatively to 114 degrees at 12 months, compared to the control group which improved from a mean of 102 degrees to 114 degrees respectively. OKS in the Parkinson’s group improved from a mean of 23 preoperatively to 38 at 12 months compared to 23 preoperatively and 40 at 12 months in the control group. After adjusting for sex, we found that the difference in the ROM and OKS between the Parkinson’s and control groups was not significantly different (p = 0.9725; 0.6450 respectively). Furthermore, in all Parkinson’s patients the minimal clinically important difference for OKS (≥6) was achieved at 1-year follow-up (4). There were no mortalities during the study follow-up period, with 4 complications in the PD group (DVT, superficial infection) and two in the control group (DVT, bowel pseudo-obstruction).Conclusions:This study demonstrates that TKR provides comparable outcomes with regard to range of movement and ambulatory function in patients with Parkinson’s disease who are also suffering from severe osteoarthritis. We also feel that TKR has an acceptable complication profile in this subgroup of patients. The presence of PD does not appear to compromise the outcome of TKR in these patients, and the same indications for TKR should therefore apply as for the general OA population.

SLC6A3 rs28363170 and rs3836790 variants in Han Chinese patients with sporadic Parkinson’s disease

Parkinson’s disease (PD; OMIM 168600) is the second most common neurodegenerative disorder characterized by the loss of dopamine-producing neurons in the substantia nigra and other brainstem nuclei. Recently, two variants (rs28363170 and rs3836790) in the solute carrier family 6 member 3 gene (SLC6A3) were identified to be significantly associated with PD patients in French population. The purpose of our study was to explore whether these two variants are associated with sporadic PD in Han Chinese population. We designed a case-control comparison study in 521 Han Chinese patients with sporadic PD and 502 age, gender and ethnicity matched normal controls from Mainland China. There is no statistically significant difference in either genotypic or allelic distribution between disease group and normal controls in our cohort for the two variants (all P>0.05). In addition, we did not identify any related haplotype that would either increase the risk for PD or play a protective role against PD. Our data suggest that variants rs28363170 and rs3836790 are not associated with sporadic PD in Han Chinese population.

MC1R variants in Chinese Han patients with sporadic Parkinson's disease

Recently, a variant p.R160W in the MC1R gene was identified that increased the risk of Parkinson's disease (PD) in Spanish population. To explore whether the MC1R gene variants are associated with sporadic PD in Chinese population, we performed a case-control comparison study for comprehensive MC1R variant screening in 510 Chinese Han patients and 495 healthy controls as ethnically matched controls. We identify 5 nonsynonymous variants, including rs34090186 (p.R67Q), rs2228479 (p.V92M), rs33932559 (p.I120T), rs885479 (p.R163Q), and rs372152373 (p.R223W). However, variants mentioned previously did not show association with PD. Our results suggest that variants in MC1R do not play a major role in PD in the Chinese population.

Leptin Correlation with Obesity, Diabetes and Gender in a Population from Faisalabad, Pakistan

Background: Leptin is an important adipokine hormone released from adipose tissue which is associated with obesity and diabetes in different populations. Objective: To investigate the serum leptin concentrations for its correlation with diabetes, obesity and gender in a small population from Faisalabad, Pakistan. Methods: From our sample collection of more than 500 subjects for metabolic disorders research, we have carefully selected 80 subjects for the present case-control comparison study. These subjects were grouped on the basis of diabetes, obesity and gender status. Equal number of subjects was taken for each comparison group to minimize the effects of confounding factors. For diabetes, these eighty subjects were divided into two groups (n=40 non-diabetic and n=40 type 2 diabetics). While considering obesity, these eighty subject were divided on the basis of their Body Mass Index (n=40 non-obese and n=40 obese). For gender based analysis, the groups based on diabetes and obesity were made (n=20 in each sub-group) and further analyzed while keeping n=10 males and n=10 females in each sub-group. Serum leptin and biochemical analytes were measured for all subjects and data were analyzed by SPSS 18.0 software. Results: Leptin levels were found significantly low in nonobese as compared to obese subjects (Mean ± SD: 5.2 ± 2.0 vs. 7.1 ± 2.1 ng/ml, p<0.001). No significant difference was found for non-diabetics and diabetics (6.4 ± 2.4 vs. 5.9 ± 2.2 ng/ml, p=0.35). Gender dimorphism showed significant differences for leptin (p<0.0001). Spearman’s analysis showed strong correlation between leptin and obesity (r=0.43, p=0.0001), gender (r=0.24, p=0.02) irrespective of obesity or diabetes. Conclusion: The leptin levels were high in obese and female subjects.

Genetic analysis of TREM2 variants in Chinese Han patients with sporadic Parkinson’s disease

Parkinson’s disease (PD) is the second most common neurodegenerative disorder after Alzheimer’s disease and is characterized by the degeneration of dopaminergic neurons in substantia nigra. Recently, rs75932628 (p.R47H) of the triggering receptor expressed on myeloid cells 2 gene (TREM2) was identified to be associated with PD in American, Spanish, Irish, and Polish population. To explore whether TREM2 variants are related to susceptibility of sporadic PD in Chinese Han population, we designed a case-control comparison study and studied two variants rs75932628 (p.R47H) and rs2234253 (p.T96K) of the TREM2 gene in 512 Chinese Han patients with sporadic PD and 512 age, gender and ethnicity matched normal controls from Mainland China. No variant for either rs75932628 or rs2234253 was found in both PD and control cohorts. Our data suggest that neither variant rs75932628 nor rs2234253 be a major susceptibility factor of sporadic PD in Chinese Han population from Mainland China.

Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson’s disease

Parkinson’s disease (PD, OMIM 168600) is a neurodegenerative disorder featured by degeneration of melanin-positive dopaminergic neurons. Epidemiologic studies have suggested that PD and malignant melanoma (MM) might share common genetic components. Recently, the p.R160W variant in the melanocortin 1 receptor gene (MC1R, OMIM 155555), a risk factor for MM, has been identified to be associated with PD in Spanish population. To explore whether the MC1R variants are associated with sporadic PD in Chinese population, we designed a case-control comparison study and studied three variants, including rs3212366 (p.F196L), rs33932559 (p.I120T) and rs34090186 (p.R67Q), in the MC1R gene in 512 Chinese Han patients with sporadic PD and 512 age, gender and ethnicity matched normal controls. For rs3212366, only the TT genotype was identified in both PD and control cohorts. For variants rs33932559 and rs34090186, we did not identify any statistically significant difference in either genotypic distribution or allelic distribution between the PD cohort and control cohort, and in addition, we did not identify any related haplotype that would either increase the risk for PD or play a protective role against PD. Our data suggest that none of the three variants of the MC1R gene and related haplotypes be associated with sporadic form of PD in Chinese Han population from Mainland China.

FOC6-7LAT SOFTWARE INDUCED SAVINGS ON HOSPITAL COSTS OF ALCOHOL ADDICTS' CARE

Lesch Alcoholism Typology (LAT) is one of the most widely used clinical typologies of alcohol addiction. Study tested whether introduction of LAT software in clinical practice leaded to improved outcomes and reduced costs. Retrospective matched-pairs case-control cost comparison study was conducted at the Regional Addiction Center of the …

LAT software induced savings on medical costs of alcohol addicts' care--results from a matched-pairs case-control study.

Lesch Alcoholism Typology (LAT) is one of the most widely used clinical typologies of alcohol addiction. Study tested whether introduction of LAT software in clinical practice leaded to improved outcomes and reduced costs. Retrospective matched-pairs case-control cost comparison study was conducted at the Regional Addiction Center of the University Clinic in Serbia involving 250 patients during the four-year period. Mean relapse frequency followed by outpatient detoxification was 0.42±0.90 vs. 0.70±1.66 (LAT/non-LAT; p = 0.267). Adding relapses after inpatient treatment total mean-number of relapses per patient was 0.70±1.74 vs. 0.97±1.89 (LAT/non-LAT; p = 0.201). However, these relapse frequency differentials were not statistically significant. Total hospital costs of Psychiatry clinic based non-LAT addicts' care (€54,660) were significantly reduced to €36,569 after initiation of LAT. Mean total cost per patient was reduced almost by half after initiation of LAT based treatment: €331±381 vs. €626±795 (LAT/non-LAT; p = 0.001). Mean cost of single psychiatry clinic admission among non-LAT treatment group was €320±330 (CI 95% 262–378) and among LAT €197±165 (CI 95% 168–226) (p = 0.019). Mean LAT software induced net savings on psychiatric care costs were €144 per patient. Total net savings on hospital care including F10 associated somatic co-morbidities amounted to €295 per patient. More sensitive diagnostic assessment and sub-type specific pharmacotherapy and psychotherapy following implementation of LAT software lead to significant savings on costs of hospital care.

Statistical learning techniques applied to epidemiology: a simulated case-control comparison study with logistic regression

BackgroundWhen investigating covariate interactions and group associations with standard regression analyses, the relationship between the response variable and exposure may be difficult to characterize. When the relationship is nonlinear, linear modeling techniques do not capture the nonlinear information content. Statistical learning (SL) techniques with kernels are capable of addressing nonlinear problems without making parametric assumptions. However, these techniques do not produce findings relevant for epidemiologic interpretations. A simulated case-control study was used to contrast the information embedding characteristics and separation boundaries produced by a specific SL technique with logistic regression (LR) modeling representing a parametric approach. The SL technique was comprised of a kernel mapping in combination with a perceptron neural network. Because the LR model has an important epidemiologic interpretation, the SL method was modified to produce the analogous interpretation and generate odds ratios for comparison.ResultsThe SL approach is capable of generating odds ratios for main effects and risk factor interactions that better capture nonlinear relationships between exposure variables and outcome in comparison with LR.ConclusionsThe integration of SL methods in epidemiology may improve both the understanding and interpretation of complex exposure/disease relationships.

Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer

Mitochondria are the major source of Reactive Oxygen Species (ROS) and mtDNA G10398A (Ala → Thr) polymorphism, proposed to be involved in increased ROS production, has been shown in association with invasive breast cancer in African–American (AA) women [J.A. Canter, A.R. Kallianpur, F.F. Parl, R.C. Millikan, Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African–American women, Cancer Res. 65 (2005) 8028–8033] and prostate cancer in AA men [M.P. Mims, T.G. Hayes, S. Zheng, S.M. Leal, A. Frolov, M.M. Ittmann, et al., Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African–American women, Cancer Res. 66 (2006) 1880; author reply 1880–1881]. The role of mitochondria, however, in cancer development has been in question recently [A. Salas, Y.G. Yao, V. Macaulay, A. Vega, A. Carracedo, H.J. Bandelt, A critical reassessment of the role of mitochondria in tumorigenesis, PLoS Med. 2 (2005) e296], which has made it pertinent to analyze the data and test the hypotheses by conducting fresh case-control studies. This study, therefore, makes an attempt to validate the exclusive presence of mtG10398A (Ala → Thr) polymorphism in a haplotype constituting mtDNA haplogroup N and its sublineages, imparting this group a higher risk for breast cancer, based on the re-analyses of ∼1000 complete human mtDNA sequences worldwide and collated information on 2334 individuals belonging to 18 regions in India. The conclusion drawn of mt10398A allele providing a risk towards cancer is confirmed in a case-control comparison study of 124 sporadic breast cancer patients and 273 controls; and 55 squamous cell carcinoma of esophagus, ESCC, and 163 controls, matched for age, ethnicity and sex from north India. It is further apparent from the study that such a mtDNA polymorphism background provides a higher risk for the cancers of the tissues which could be affected by environmental insults directly as in the ESCC, observed with a high acquired (somatic) rate of mutation in p53 when compared to the breast cancer, suggesting that the mtDNA variants that arose as energetic adaptations, influence our health differentially under different environment conditions and a given genetic background of the mt genome.