Gender-matched Healthy Individuals Research Articles

Assessment of vascular stiffness using different modalities in patients with systemic lupus erythematosus: a case control study

BackgroundCardiovascular disease is a major cause of morbidity and mortality in systemic lupus erythematosus (SLE) patients. Accurate risk stratification would require a simple, non-invasive index integrating all traditional and emerging risk factors. Vascular stiffness fulfills these requirements and has better predictive value for cardiovascular events than traditional risk factors in hypertensives and patients with coronary artery disease. Our aim was to determine whether arterial stiffness is increased in SLE patients compared to healthy controls and to correlate the arterial stiffness in SLE patients with cardiovascular risk factors, namely, hypertension and diabetes mellitus.ResultsThis study included 50 SLE patients and 50 age- and gender-matched healthy individuals. SLE patients had higher median aortic stiffness index (SI) and lower strain and distensibility, compared to controls (p value for all < 0.001). SLE patients had significantly impaired flow-mediated dilation (FMD) compared to controls: the median (range) in SLE patients was 8.82 (2.5–21.87), compared to 19 (12–37.5) in controls (z = − 7.695, p ˂ 0.001). Regarding quality arterial stiffness (QAS) parameters, SLE patients had significantly lower median carotid distension, distensibility coefficient, and compliance coefficient, with higher median carotid SI, carotid pulse wave velocity (PWV), and augmentation index (AI), compared to controls (p value for all ≤ 0.001). SLE patients had a higher median cf-PWV 6.5 m/s (4.8–11.8), compared to a median of 4.6 m/s (3.8–6.9) in controls (z = − 8.193, p ˂ 0.001). Linear regression analysis to adjust for hypertension and diabetes mellitus yielded a statistically significant difference between both groups for all of the above parameters (p = 0.014 for maximum carotid intima media thickness (IMT) and < 0.001 for remaining parameters), with the exception of the maximum carotid augmentation index (p = 0.184).ConclusionSLE patients have significantly increased arterial stiffness and impaired FMD compared to healthy controls. This is true even after adjusting for hypertension and diabetes mellitus, highlighting the fact that SLE could be an independent cardiovascular risk factor. These findings emphasize the need for early management of SLE together with aggressive risk factor modification.

Assessment of sphenoid sinus types in patients with cleft lip and palate on cone-beam CT.

The aim of this study is to examine the sphenoid sinus morphology and variations in patients with cleft lip and palate (CLP) on cone-beam computed tomography (CBCT) images, and to compare them with healthy controls. CBCT images of 54 patients (28 males and 26 females,) with CLP and 54 age- and gender-matched healthy individuals (28 males and 26 females) were retrospectively evaluated. Sphenoid sinus main types (conchal, presellar, sellar, postsellar), sellar subtypes, clival and lateral extensions, and sinus septation were analyzed in CLP and control groups. The data were statistically analyzed using Chi-square test to compare the groups. A statistically significant difference was found between CLP and control groups for sphenoid sinus main types (p < 0.05). Presellar type was more commonly observed in CLP group (18.5%), while the postsellar (31.5%) and clival (17.7%) types were more frequent in control group. There was a significant difference between the groups among different sellar sinus subtypes (p < 0.05). A significant difference was detected between the groups for clival extensions of sphenoid sinus (p < 0.05), but no difference was found for the lateral extensions (p > 0.05). No significant difference was determined between groups for sphenoid sinus septation (p > 0.05). Significant differences were found between the CLP and control groups in terms of sphenoid sinus main types, sellar subtypes and the clival extensions. Knowledge of sphenoid sinus pneumatization in patients with CLP is important for preventing complications during transsphenoidal surgery.

Serum Soluble CD89-IgA Complexes Are Elevated in IgA Nephropathy without Immunosuppressant History

Purpose CD89 (FcαRI), the receptor of IgA, can shed from cells to form complexes with IgA in serum and is supposed to participate in the pathogenesis of IgA nephropathy (IgAN). There are contradictory results on their utility in clinical practice. This study is aimed at investigating whether sCD89-IgA complexes can help in the diagnosis or evaluation of the disease. Methods A sandwich ELISA was established using anti-CD89 as a capture antibody and HRP-conjugated anti-IgA as a detection antibody. This method was used to measure serum levels of sCD89-IgA complexes in IgAN patients without immunosuppressant history and healthy subjects. Correlations between serum levels of sCD89-IgA complexes and disease severity were analyzed. Results Serum sCD89-IgA complexes increased with age (P < 0.001). IgAN patients had higher sCD89-IgA complex levels compared with age- and gender-matched normal healthy individuals (P < 0.001). IgAN patients had higher sCD89-IgA complex levels compared with age- and gender-matched normal healthy individuals (P < 0.001). IgAN patients had higher sCD89-IgA complex levels compared with age- and gender-matched normal healthy individuals (Conclusions Serum sCD89-IgA complexes can guide diagnosis of IgAN in patients without immunosuppressant history, but provide limited help in clinicopathologic prediction.

STUDY OF PREVALENCE AND PATTERN OF HEARING LOSS IN PATIENTS OF HEPATITIS B

Hepatitis B has been documented to cause various extra hepatic manifestations along with known hepatic complications. It has been reported that hepatitis-B patients are more susceptible to inner ear damage and hearing loss. The aim of this study is to evaluate hearing loss among patients of hepatitis B {all 6 categories Hepatitis B infection: chronic Hepatitis B infection , hepatitis B cirrhosis ,Hepatitis B virus carriers , occult chronic Hepatitis B and Hepatitis B infection with poly arthritis nodosa, hepato cellular carcinoma with hepatitis B}compared with healthy subjects.&#x0D; METHOD: In this case control study 100 Hepatitis B positive patients and 100 age and gender-matched healthy individuals were included over the period of 5 years. All of them were known cases of chronic hepatitis B positive for HBsAg at least for 18 months. All patients were aged 18 to 50 years to exclude presence of presbycusis. After base line investigations, they were subjected for all cases and controls were subjected otoscopic examination and hearing assessment using standard pure tone audiometry. Descriptive statistical analysis has been carried out in this study.&#x0D; RESULT: In patients of Hepatitis B (94 patients,6 patients had of natural death ) pure tone average (mean thresholds 250,500, 1000,2000,4000 &amp;8000 Hz) was 28.4 dB in the right ear and 27.3 dB in the left (hearing loss).In the control group(96 patients,4 patients dropped out), PTA average was 9.9 dB in the right ear and 9.3dB in the left (normal hearing). In both groups, Speech Discrimination score (SDS) was100% in both ears. The percentage of hearing loss in the right and left ear over the total of six frequencies differed significantly in the two groups. Out of 94 patients of control group, 38 patients (40.4%) patients presented with Chronic Liver Disease (CLD), 14 patients (14.8%) patients presented with cirrhosis with Hepatitis B, 6 (6.3%) patients had Poly arthritis Nodosa with Hep-B, 18(19.1%) patients were diagnosed as carrier of Hepatitis-B , 11(11.7%) patients had occult Hepatitis-B and 7(7.4%) patients were diagnosed with hepato cellular carcinoma.&#x0D; Hearing loss was maximum in patients of PAN with Hep-B. Second highest mean SNHL was seen in patients of Hep-B with cirrhosis .Third highest mean hearing loss was noted in patients with HCC .Forth highest mean hearing loss was noted in patients with occult Hep-B. Fifth highest mean hearing loss was noted in carriers of Hep-B.Lowest group with SNHL was chronic liver disease.&#x0D; CONCLUSION: Regular audiometric tests are recommended for patients with HBV infection to assess their hearing ability and enable the earlier detection of SNHL. We also suggest that HBV presenting with the sudden onset of hearing loss should be examined for the possibility of acute exacerbation of chronic HBV infection.&#x0D; KEYWORDS: Mean, Sensorineural, Hearing loss, Cirrhosis.

Burden of premature atrial beats in middle-aged endurance athletes with and without lone atrial fibrillation versus sedentary controls.

The burden of premature atrial beats (PABs) at 24-h electrocardiographic (ECG) monitoring correlates with the risk of atrial fibrillation. It is unknown whether prolonged and intense exercise increases the burden of PABs, thus contributing to the higher prevalence of atrial fibrillation observed in middle-aged athletes. We compared the burden of PABs at 24-h ECG monitoring off therapy in 134 healthy middle-aged (30-60-year-old) competitive athletes who had practised 9 (7-11) h of endurance sports for 8 (4-15) consecutive years, 134 age- and gender-matched healthy sedentary individuals, and 66 middle-aged patients (20 athletes and 46 non-athletes) with 'lone' paroxysmal atrial fibrillation. More than 50 PABs/24 h or ≥1 run of ≥3 PABs were recorded in 23/134 (17%) healthy athletes and in 29/134 (22%) sedentary controls (p = 0.61). Healthy athletes with frequent or repetitive PABs were older (median 50 years vs. 43 years, p < 0.01) and had practised sport for a longer time (median 10 years vs. 6 years, p = 0.03). At multivariable analysis only age (odds ratio 1.11, 95% confidence interval 1.04-1.20, p < 0.01) remained an independent predictor of a higher burden of PABs. Also among patients with 'lone' paroxysmal atrial fibrillation, there was no difference in the prevalence of >50 PABs/24 h or ≥1 run of ≥3 PABs between athletes (40%) and controls (48%, p = 0.74). Middle-aged endurance athletes, with or without paroxysmal atrial fibrillation, did not show a higher burden of PABs at 24-h ECG monitoring than sedentary controls. Age, but not intensity and duration of sports activity, predicted a higher burden of PABs among healthy athletes.

Comparison of reaction time and functional balance in chronic obstructive pulmonary disease and healthy participants

BackgroundReaction time is one of the components of functional balance and could contribute to balance impairment. Information regarding this relationship is scant among Chronic Obstructive Pulmonary Disease (COPD) participants. ObjectivesTo compare stepping reaction time between participants with COPD and age; gender-matched healthy individuals to find out whether reaction time in COPD population is affected. MethodsThis cross-sectional study included 41 COPD participants and 41 age and gender-matched healthy individuals. All the participants underwent measurements of stepping reaction time (SRT) and timed up and go test (TUG). ResultsSRT was significantly higher in COPD participants compared to healthy individuals [median of difference- 350 milliseconds (110, 830), p < 0.001]. TUG was significantly higher in COPD participants compared to healthy individuals [median of difference = 2.82 seconds (0.34 and 4.5), p < 0.001]. ConclusionsParticipants with COPD exhibit marked increase in SRT and demonstrate a deficiency in functional balance compared to the healthy participants.

Bacteroidetes and Firmicutes levels in gut microbiota and effects of hosts TLR2/TLR4 gene expression levels in adult type 1 diabetes patients in Istanbul, Turkey

AimThe aim of this study was to determine and compare the levels of both Bacteroidetes and Firmicutes in the gut microbiota and TLR2/TLR4 gene expression in the blood of patients with type 1 diabetes mellitus (T1DM) and healthy individuals. These results may serve as a preliminary assessment to guide future research. MethodBetween January and October 2014, stool and blood samples were collected from 53 adult T1DM patients and 53 age- and gender-matched healthy individuals. Bacteroidetes and Firmicutes levels were assessed from stool sample DNA and TLR2 and TLR4 expression levels were analyzed via qPCR using RNA from EDTA blood samples from both patients and healthy controls. ResultsThe amounts of Bacteroidetes and Firmicutes were statistically significantly higher and lower, respectively, in the T1DM group than in the healthy control group (p < 0.001 and p < 0.001, respectively). In addition, the Firmicutes/Bacteroidetes ratios in patients with T1DM were significantly lower than in healthy controls. The TLR4 and TLR2 gene expression levels in T1DM patients were significantly upregulated and downregulated, respectively, compared to those in the control group. ConclusionOur data are the first to show a relationship between T1DM and gut microbiota in our country. In addition, our results provide information about the connections between T1DM, gut microbiota, and TLR2 and TLR4 expression. We believe that Bacteroidetes and Firmicutes in the gut microbiota may play a role in the autoimmune process of T1DM and that these findings should be further investigated in the future.

A prospective study of lumbo-pelvic coordination in patients with non-chronic low back pain

Despite the current knowledge about abnormalities in the lumbo-pelvic coordination of patients with non-specific low back pain (LBP), it is unclear how such abnormalities change with time. Timing and magnitude aspects of lumbo-pelvic coordination during a trunk forward bending and backward return task along with subjective measures of pain and disability were collected at three-time points over a six-month period from 29 patients who had non-chronic LBP at the time of enrollment in the study. To enable investigation of abnormalities in lumbo-pelvic coordination of patients, we also included lumbo-pelvic coordination data of age and gender-matched back healthy individuals from an earlier study of our group. Finally, differences in lumbo-pelvic coordination between patients with moderate-severe LBP (i.e., those whose level of pain was ≥ 4 (out of 10) at all three data collection sessions; n = 8) and patients with low-moderate LBP (n = 21) were investigated. There were clear distinctions in measures of lumbo-pelvic coordination between patients with low-moderate and moderate-severe LBP. Contrary to our expectation, however, the abnormalities in magnitude aspects of lumbo-pelvic coordination were larger (F > 4.84, P < 0.012) in patients with low-moderate LBP. These abnormalities in patients with low-moderate LBP, compared to controls, included larger (>12°) pelvic and thoracic rotations as well as smaller (>10°) lumbar flexion. The abnormal lumbo-pelvic coordination of patients with non-specific LBP, observed at baseline, persisted (F < 1.96, P > 0.156) or worsen (F > 3.48, P < 0.04) over the course of study period despite significant improvement in their pain (18% decrease; F = 12.10, P < 0.001) and disability (10% decrease; F = 4.39, P = 0.017). Distinct but lingering abnormalities in lumbo-pelvic coordination, observed in patients with low-moderate and moderate-severe LBP, might have a role in persistence and/or relapse of symptoms in patients with non-specific LBP. Such inferences, however, should further be studied in future via investigation of the relationship between abnormalities in lumbo-pelvic coordination and clinical presentation of LBP.

The imbalance of gut microbiota and its correlation with plasma inflammatory cytokines in pemphigus vulgaris patients.

Pemphigus vulgaris (PV) is an autoimmune disease characterized by the production of IgG autoantibodies owing to an imbalance in the Th1/Th2 and Th17/Tregs cell pathways. The role of gut microbiota in the development of immune system and autoimmune diseases has been unraveled in the last two decades. However, data pertaining to gut microbiota of PV patients is largely lacking. We aimed to compare the gut microbiota of PV patients and healthy controls and assessed potential correlation with circulating cytokines of Th1/Th2/Th17 cell. Faecal bacterial diversity was analysed in 18 PV patients and 14 age‐ and gender‐matched healthy individuals using hypervariable tag sequencing of the V3‐V4 region of the 16S rRNA gene. Plasma levels of 20 inflammatory cytokines were assessed using the Luminex screening system. As a result, we identified 10 differentially abundant taxa between patients and controls. At the genera level, Lachnospiracea_incertae_sedis and Coprococcus decreased, while Granulicatella, Flavonifractor enriched in PV. Plasma levels of C5a, interleukin (IL)‐2R, IL‐6, IL‐8, IL‐7, IL‐1β, IL17A, IL‐5 and IL‐21 were significantly increased in PV Flavonifractor exhibited a positive correlation with C5a, IL‐6, IL‐8, IL‐7, IL‐1β, IL17A and IL‐21. Lachnospiracea_incertae_sedis and Coprococcus showed a negative correlation with IL‐17A. Our results are consistent with the hypothesis that PV patients have gut microbial dysbiosis which might contribute to the immune disorder and the development of PV.

Does using topical latanoprost affect subfoveal choroidal thickness?

Purpose: The aim of our prospective study was to investigate the effect of using latanoprost eye drops on subfoveal choroidal thickness in the macular area, as measured by using enhanced depth imaging optical coherence tomography (EDI-OCT).Materials and methods: A total of 39 eyes from 39 patients with bilateral glaucoma or ocular hypertension who had never received hypotensive therapy (study group) and 39 eyes from 39 age- and gender-matched healthy individuals (control group) were included in this study. The EDI-OCT measurements of subfoveal choroidal thickness were obtained during an initial visit before latanoprost therapy and at visits after 1 and 3 months of latanoprost therapy.Results: The mean subfoveal choroidal thickness was 309.5 ± 38.5 µm before latanoprost therapy in the study group and 307.3 ± 31.8 µm in the control group (p = .794). During latanorprost therapy in the study group, mean values of subfoveal choroidal thickness at the initial visit and at intervals of 1 and 3 months were 309.5 ± 38.5 µm, 314.2 ± 39.7 µm, and 318.3 ± 33.4 µm, respectively, which indicated a statistically significant difference between the initial and third visits only (p=.002).Conclusion: Subfoveal choroidal thickness increased after 3 months of topical latanoprost therapy.

QT and P-wave dispersion during the manic phase of bipolar disorder.

Background and aimPatients with bipolar disorder (BD) are at increased risk for cardiovascular diseases and complications. This increased risk is considered to be associated with the autonomic nervous system (ANS) abnormalities. However, there is little or no documentation of the relationship between this increased risk and the phases of BD. In this study, we aimed to compare the changes in the QT dispersion (QTd) and P-wave dispersion (Pd), which are predictors of sudden cardiac death and atrial fibrillation, between the patients with manic BD and healthy controls.Participants and methodsThe study included a patient group of 44 patients (26 female and 18 male) that were hospitalized due to a diagnosis of manic BD and met the inclusion criteria, and a control group of 34 age- and gender-matched healthy individuals (21 female and 13 male) with no history of psychiatric and neurological disorders. The QTd and Pd values were determined in each participant by performing the standard 12-lead body surface electrocardiography (ECG).ResultsThe principal electrocardiographic indicators including corrected maximum QT interval, corrected QT dispersion, and minimum P-wave duration significantly increased in the patient group compared to the control group (t=2.815, p<0.01; t=4.935, p<0.001; t=3.337, p<0.001, respectively).ConclusionThe results indicated that patients with manic BD are at increased risk for cardiovascular autonomic dysfunction. Therefore, clinicians should be more careful about ECG changes and related possible cardiac conduction problems such as cardiac arrthythmias in patients with manic BD. Further longitudinal studies are needed to investigate BD and its phases (depression, mania, and hypomania) with regard to ANS and cardiac abnormalities.

The HLA-Cw12 Allele Is an Important Susceptibility Allele for Psoriasis and Is Associated with Resistant Psoriasis in the Turkish Population.

Background Psoriasis is a multifactorial immune-mediated inflammatory disease triggered by both genetic and environmental factors. The strong association between psoriasis and HLA-C⁎06 allele has been demonstrated in various races. The HLA-C⁎12 allele is closely related to the HLA-C⁎06 family of alleles and shares identical sequences. To the best of our knowledge, there is no information about the relationship between HLA-C⁎12 and psoriasis in the Turkish population. The present study aims to determine this relationship. Methods This case control study involved 150 patients with plaque-type psoriasis and 145 age- and gender-matched healthy individuals. Severity of psoriasis was measured using the PASI scores of all patients and joint involvement was investigated with CASPAR criteria. HLA-C alleles were determined with a Tepnel-Lifecodes system. Results HLA-C⁎06, HLA-C⁎12, and HLA-C⁎04 alleles were most commonly observed in psoriasis patients. HLA-C⁎06 and HLA-C⁎12 were significantly more frequent in the psoriasis group. HLA-C⁎06 was 4.11 times more common in psoriasis patients. An increase in PASI (Psoriasis Area Severity Index) scores was compatible with HLA-C⁎12 positivity. A need for systemic treatment was highly noticeable in patients with the HLA-C⁎12 allele. Conclusions HLA-C⁎12 was found as the second most frequent allele with psoriasis in Turkish population and was associated with severe psoriasis. Our study is limited as we could not investigate other potentially related alleles other than HLA-C alleles and risk factors increasing severity of psoriasis.

Generation of three control iPS cell lines for sickle cell disease studies by reprogramming erythroblasts from individuals without hemoglobinopathies

Sickle cell disease (SCD) is one of the most prevalent and severe monogenetic disorders. Previously, we generated iPS cell lines from SCD patients. Here, we generated iPS cell lines from three age-, ethnicity- and gender-matched healthy individuals as control cell lines. Cell reprogramming was performed using erythroblasts expanded from PBMC by a non-integrative method. SCD-iPSC controls expressed pluripotency markers, presented a normal karyotype, were able to differentiate into the three germ layers in embryoid body spontaneous differentiation and confirmed to be integration-free. The cell lines generated here may be used as matched healthy controls for SCD studies.

Predicting the restrictive eating, exercise, and weight monitoring compulsions of anorexia nervosa

PurposeCompulsions surrounding restrictive eating, exercise, and weight monitoring are thought to maintain abnormal eating behaviour in individuals with anorexia nervosa (AN). This study aimed to determine if AN psychopathology and trait anxiety explain the presence of restrictive eating, exercise, and weight monitoring compulsions in a mixed sample.MethodsParticipants were 31 females with AN and 31 age and gender-matched healthy individuals (HC). Restrictive eating, exercise and weight monitoring compulsion presence was compared between AN and HC groups. Multivariable poisson regression analyses, adjusted for diagnostic status, were conducted to assess the association of both AN psychopathology and trait anxiety with compulsions across the mixed group.ResultsIndividuals with AN endorsed a greater number of restrictive eating, exercise and weight monitoring compulsions compared to HC. In adjusted poisson regression analyses neither AN psychopathology nor trait anxiety predicted compulsion presence: incidence rate ratio (IRR) for AN psychopathology = 1.15 [95% CI 0.84, 1.57], p = 0.39; IRR for trait anxiety = 1.01 [95% CI 0.97, 1.06], p = 0.50.ConclusionsGreater presence of restrictive eating, exercise and weight monitoring compulsions was reported by individuals with AN, supporting the conceptualisation of disorder behaviours as compulsive. The study was underpowered to robustly evaluate the association between predictors of interest and the compulsions outcome, largely owing to the small sample size. Further investigation is required, ideally using methods able to identify causal and mediation effects.Level of evidenceLevel V, cross-sectional study.

Impact of chronic lead exposure on liver and kidney function and haematologic parameters.

Lead, one of the most widely used metals because of its beneficial physical properties, has been reported to adversely influence several different organs and organ systems. The aim of the present study was to examine the effect of lead exposure on liver and renal function and haematologic parameters. This was a case-cohort study comparing adults with occupational, environmental or opium-related lead exposure with blood lead levels [BLL] >10μg/dL (High blood lead level (HBLL) group and age- and gender-matched normal healthy individuals (Low blood lead level [LBLL] group with BLL <10μg/dL). The complete blood count and concentrations of serum creatinine, urea, aspartate aminotransferase (AST), alanine aminotransferase (ALT) were recorded for subsequent investigation. The mean BLL was significantly higher in the HBLL than in the LBLL groups (51.36±44.72 vs 4.17±1.97µg/dL). The Spearman's rho revealed a significant association between BLL and urea (r=0.25, P<0.001), creatinine (r=0.16, P=0.02), AST (r=0.42, P<0.001) and ALT (r=0.27, P<0.001). The median [IQR] serum urea (34mg/dL [27-221]) vs (30 [27-36]), creatinine (0.9mg/dL [0.8-1]) vs (0.8 [0.7-0.9]), ALT (25mg/dL [16-49]) vs (22 [16-30]) and AST concentrations (29mg/dL [20-42]) vs (20 [18-24]) were all significantly higher (P<0.05) in the HBLL group compared to the LBLL group. The median [IQR] haemoglobin (12.6g/dL [10.4-15.4]) vs (15.2 [14.6-16.3] and haematocrit (36.9% [31-44.8]) vs (45.6 [43.6-48.2]) were both significantly lower (P<0.001) in the HBLL group than in the LBLL group. The results indicated that people with chronic lead exposure with BLLs greater than 10μg/dL are at risk of renal, liver and haematologic impairments.

Influence of Caspase-9 polymorphisms on the development of Chronic Myeloid Leukemia- A case-control study.

IntroductionChronic Myeloid Leukemia (CML) is a myeloproliferative disorder, characterized by the overproduction of myeloid cells in all stages of maturation. It is usually defined by three sequential stages (Chronic, Accelerated and Blast-crisis) where the transition from chronic to accelerated to blast phases is presumed to occur due to secondary genetic changes, viz. accumulation of mutations, activation of downstream pathways and failure of apoptosis. Caspase 9 is the initiator caspase involved in mitochondrial-mediated apoptotic pathway. Polymorphisms in the promoter (−1263 A>G, -712C>T, -293 del) and coding (Ex5 +32G>A) regions of CASP9 gene are found to influence the expression levels by either impairing the activation or loss of expression of CASP9 or insufficient formation of apoptosome.MethodsThe present case-control study was carried out on 999 individuals, comprised of 485CML cases reported at Nizams Institute of Medical Sciences (NIMS), Hyderabad and 514 age and gender-matched healthy individuals from local population. DNA was isolated by non-enzymatic/salting-out method and was genotyped using RFLP technique.ResultsIt was observed that the presence of G allele of CASP9 -1263A>G polymorphism enhanced the risk for CML while CASP9 -712C>T and CASP9 -293del SNPs conferred protection against development of CML. Haplotype analysis of promoter and exonic polymorphisms had revealed increased risk associated with two haplotypes G_C_del (+)_G (OR-1.61, 95% CI-0.97-2.65, p-0.06#) and G_C_del (–)_G (OR-2.09, 95% CI-0.94-4.66, p-0.07#) suggesting the role of G allele of CASP9 -1263A>G in conferring risk independent of other SNPs. Pairwise LD analysis performed for all the four SNPs revealed the presence of LD among the SNPs.ConclusionThe results of the present study therefore concludes the role of CASP9 -1263A>G polymorphism in increasing the risk for the development and progression while CASP9 -712C>T and CASP9 -293del SNPs conferred protection and CASP9 Ex5 +32G>A was involved in conferring resistance which could be in combination with other SNPs or factors affecting them.

Left ventricular rotational abnormalities following successful kidney transplantation-insights from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study.

Kidney transplantation (KTx) is the preferred treatment for virtually all suitable candidates with end-stage renal disease. There is limited information on left ventricular (LV) rotational mechanics post-KTx, therefore the present study aimed to assess it and to compare it to that of age- and gender-matched healthy controls. The present study comprised 42 KTx patients, from which 4 patients were excluded due to insufficient image quality (mean age: 46.3±8.2 years, 29 males). Control group consisted of 81 age- and gender-matched healthy individuals (mean age: 43.5±10.8 years, 51 males). All KTx patients and healthy controls successfully underwent transthoracic two-dimensional (2D) Doppler echocardiography and three-dimensional speckle-tracking echocardiography (3DSTE). Significant differences could be demonstrated in LA diameter, LV end-diastolic diameter and volume, interventricular septum, LV posterior wall thickness, LV ejection fraction and early and late filling transmitral flow velocities and in their ratio between KTx patients and controls; none of the subjects examined showed grade 2-4 mitral and/or tricuspid regurgitations. Three patients following successful KTx showed near absence of LV twist called as LV 'rigid body rotation' (RBR) movement. When the remaining 35 post-KTx patients were analysed separately, reduced basal LV rotation could be demonstrated in post-KTx patients with tendentious increase in apical LV rotation resulting in an unchanged LV twist. KTx is associated with alterations in LV rotational mechanics with unchanged LV twist suggesting a remodelling of this sort of movement. The near absence of LV twist (LV-RBR) could be demonstrated in some post-KTx cases.

The Impact of Intracerebral Hemorrhage on the Progression of White Matter Hyperintensity.

Objective: The exact relationship between white matter hyperintensity (WMH) and intracerebral hemorrhage (ICH) after ICH remains unclear. In this retrospective study, we investigated whether patients with ICH had more severe WMH progression.Patients and Methods: A total of 2,951 patients aged ≥40 years with ICH who received brain computed tomography (CT) imaging within 12 h of ICH symptom onset were screened. Ninety patients with two fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging (MRI) assessments, including 36 patients with Lobar ICH, 40 with basal ganglia region ICH and 14 with ICH at other sites, were included in the final study. We selected 90 age- and gender-matched healthy individuals with two MRI scans as the control group. The WMH volumes at baseline and follow-up were assessed using the FLAIR image by MRICRON and ITK-SNAP software, while the hematoma volumes were calculated based on the CT images using ITK-SNAP software.Results: The annual progression rate of WMH was significantly higher in the ICH group compared with the control group (p < 0.05). Furthermore, WMH progression was associated with the ICH volume. The largest ICH volume (>30 mL) was associated with the highest annual progression rate of WMH (p < 0.05). In contrast, no trend toward an association between ICH location and the annual progression rate of WMH was observed (p > 0.05).Conclusions: Our results showed that ICH patients had more severe WMH progression and that larger ICH volume was related to greater progression of WMH after ICH. These results could provide important prognostic information about patients with ICH.

A multisystem composite biomarker as a preliminary diagnostic test in bipolar disorder.

Diagnosis and management of bipolar disorder (BD) are limited by the absence of available laboratory tests. We aimed to combine data from different molecular levels and tissues into a composite diagnostic and state biomarker. Expression levels of 19 candidate genes in peripheral blood, plasma levels of BDNF, NT-3, IL-6 and IL-18, leukocyte counts, and urinary markers of oxidative damage to DNA and RNA were measured in 37 adult rapid-cycling patients with BD in different affective states during a 6- to 12-month period and in 40 age- and gender-matched healthy individuals in a longitudinal, repeated measures design comprising a total of 211 samples. A composite biomarker was constructed using data-driven variable selection. The composite biomarker discriminated between patients with BD and healthy control individuals with an area under the receiver operating characteristic curve (AUC) of 0.83 and a sensitivity of 73% and specificity of 71% corresponding with a moderately accurate test. Discrimination between manic and depressive states had a moderate accuracy, with an AUC of 0.82 and a sensitivity of 92% and a specificity of 40%. Combining individual biomarkers across tissues and molecular systems could be a promising avenue for research in biomarker models in BD.

Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women.

Several meta-analyses including retrospective case-control studies have shown that the risk of developing Parkinson's disease (PD) correlates inversely with alcohol consumption and (PD), although the results of prospective longitudinal studies are far from being conclusive. The reasons for this inverse association are not well-known. Because alcohol dehydrogenase is one of the most important alcohol-detoxification enzymes, we tried to replicate a putative association of the risk of developing PD with two missense gene variations affecting the alcohol dehydrogenase 1B (ADH1B) gene (one of them related with aversive effects to alcohol). In a cohort composed of 629 PD patients and 865 age- and gender-matched healthy individuals, we analyzed genotypes and allele frequencies for two common missense ADH1B single nucleotide polymorphisms (SNPs), namely rs1229984 (His48Arg) and rs6413413 (Thr60Ser) using specifically designed TaqMan assays. The frequency of individuals carrying rs1229984T alleles in homozygosity or in heterozygosity was higher in PD than in controls in the whole study cohort (P < 0.001 and P = 0.005, respectively), and in women (P < 0.001 and P < 0.001, respectively). The genotypes for rs6413413 were similar in PD patients and control subjects. Age at onset of PD patients was not statistically related to rs1229984 or rs6413413 genotypes. The missense variant rs1229984T is statistically associated with the risk of developing PD mainly in women, which could explain differences in alcohol consumption in this gender.