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Septoplasty is a common operative procedure in ENT for correction of nasal septal deformity. Rarely it may result into devastating complication like vision loss. This may be related to other causes apart from septoplasty. The author presents a 27 yrs old male admitted to our hospital for septoplasty, 1 h after septoplasty the patient suffered from unilateral vision loss. After thorough examination and investigation the vision loss was found to be due to homocysteinemia. Hence homocysteinemia is one of the rare cause of vision loss in post septoplasty. Thus this is a rare presentation. [ABSTRACT FROM AUTHOR]

Intracranial aneurysms (IAs) are common lesions in the brain. There is a strong relation between hyperhomocysteinemia (HHcy) and cerebrovascular disease; we perform a retrospective study within the Chinese Han population to explore the association between HHcy and IAs. Two hundred six patients with IAs and 206 control subjects were evaluated for their serum total homocysteine levels. With multiple logistic regression analysis, the association between HHcy and the risk of IAs was estimated. Interaction and stratified analyses were conducted according to age, sex, BMI, smoking status, drinking status, and chronic disease histories. The threshold effect was examined by the two-piecewise linear regression model. The multivariate logistic regression analyses revealed a significant association between HHcy and IAs (odds ratio (OR) = 1.68; 95% confidence interval (CI), 1.02–2.75) after adjusting for classical vascular risk factors. And a 2% higher risk of IAs was observed, which was associated with a 1-μmol/L increase in serum total homocysteine level. The interaction analysis showed that age played an interactive role in the association between HHcy and IAs. In summary, our study provides evidence that HHcy is an independent risk factor for IAs in the Chinese Han population, especially in the elderly subgroup. Taking all the findings into consideration, longitudinal studies and clinical trials of homocysteine-lowering therapy via dietary or medical intervention are needed to assess the causal nature of these relationships. [ABSTRACT FROM AUTHOR]

Combined homocysteinemia with methylmalonic aciduria (MMA/HCY) are genetic disorders of intracellular cobalamin (cbl) transport and processing that cause downstream deficiencies in methylcobalamin and adenosylcobalamin. Untreated disease is characterized biochemically by methylmalonic aciduria and hyperhomocysteinemia, while the clinical features are variable. When spastic paraplegia (SP) dominates, it is difficult to differentiate from hereditary spastic paraplegia (HSP). Clinical, biochemical and imaging features were reviewed in eight patients with MMA/HCY that mimicked HSP. Seven males and one female were enrolled. The median onset age was 13 years old (range 7–26 years old). The median time delay of diagnosis was 20.5 months (range 2–60 months). Spastic gait was the first symptom in four patients, while the other four patients presented with chronic emotional abnormalities or cognitive impairment. The main clinical manifestation was SP, and other neurological symptoms included cognitive impairment (5/8), spastic dysuria (3/8), personality change and depression (3/8), ataxia (2/8), seizures (2/8), limb numbness (2/8), and developmental delay (2/8). When patients were diagnosed, the mean serum homocysteine level, the methylmalonic acid level in urine, the serum propionylcarnitine (C3) level and the ratios of C3-to-acetylcarnitine (C2) and free carnitine (C0) were all dramatically elevated. Cranial MRIs showed nothing remarkable except mild brain atrophy. All spinal MRIs were normal except for case 8. Definite compound heterozygous mutations in MMACHC were detected in five cases. Follow-up indicated partial improvement in all the patients after intramuscular cbl, oral betaine and folate, supporting the diagnosis of MMA/HCY. Our data highlight the need for extensive investigation of intracellular cbl transport and processing, when spastic paraparesis is a prominent component of the clinical picture. Testing for urine methylmalonic acid and serum homocysteine levels is a simple but critical approach in suspected cases. Genetic testing, especially for MMACHC gene mutations, is needed. Raising awareness of this disorder could result in the timely initiation of targeted treatment, which may significantly improve patient outcomes. [ABSTRACT FROM AUTHOR]

Objective: Patients with diabetes have higher stress-to-rest mean left ventricular volume (SRLVV) ratio in myocardial perfusion imaging (MPI) and hyperhomocysteinemia. We studied the effect of folate therapy on SRLVV ratio and plasma homocysteine levels in patients with diabetes.Methods: Forty patients were enrolled and thirty-two completed the study. The patients underwent a 2-day pharmacological stress test and rest MPI before and 2 months after treatment with either 5 mg folic acid or placebo. SRLVV ratios were calculated, and plasma homocysteine levels were measured, before and after treatment.Results: Among the 32 patients who completed the study, 15 received folic acid and 17 received placebo. The age of subjects (folate 51.5 ± 6.1 years; placebo 50.6 ± 8.1 years), male/female ratio (folate 6/11; placebo 9/6),or MPI findings (proportion of normal results: folate 80.0 %; placebo 94.1 %) were similar between the two groups. The baseline SRLVV ratio was similar between groups (folate: 1.00 ± 0.09 vs. placebo: 0.97 ± 0.13); however, the post-treatment SRLVV ratio was significantly lower (P < 0.001) in the folate group than in the placebo group (folate: 0.93 ± 0.10 vs. placebo: 1.04 ± 0.17). A general linear repeated-measures model showed a significant difference in the change in SRLVV ratio between participants receiving folate and those receiving placebo. Post-treatment homocysteine level was lower after folate treatment (from 14.5 ± 4.6 to 11.5 ± 5.3 µmol/L), as compared to placebo (from 13.7 ± 5.0 to 17.9 ± 4.5 µmol/L) (P = 0.01). The changes in SRLVV ratio and homocysteine level were correlated (r = 0.45; P = 0.016).Conclusions: Short-term folate therapy reduced SRLVV ratio and plasma homocysteine level. [ABSTRACT FROM AUTHOR]

Breast cancer remains the second most frequent type of cancer in the world and the first among women, and systemic chemotherapy is an adjuvant therapeutic modality that improves survival in a great part of patients. Women with breast cancer, however, frequently show a higher risk of thromboembolism, an event associated to hyperhomocysteinemia and the presence of circulating tumor cells (CTC). Our aim is to correlate the presence of CTCs, detected by the analysis of CK19 and c-erbB2 gene expressions, and the homocysteine plasma levels in the peripheral blood in patients with breast cancer undergoing chemotherapy. Epithelial marker expression (CK19 and c-erbB2) and homocysteine levels were analyzed in a mononuclear fraction of the peripheral blood and plasma, respectively, obtained from 35 patients diagnosed with breast cancer at diagnosis and throughout chemotherapy treatment. No significant relation between the CK19 and c-erbB2 expressions and hyperhomocysteinemia was observed at any moment of the evaluation throughout the chemotherapy treatment (3 and 6 months after the onset). Among clinical data, only menopausal status showed a statistically significant correlation with homocysteine concentration. Although differences in the expressions of the analyzed epithelial markers were detected at 3 and 6 months of chemotherapy treatment, no relation between plasma homocysteine variations and the CK19 and c-erbB2 gene expressions was found in patients under chemotherapy treatment at any moment of the evaluation, suggesting that chemotherapy affects the expressions of the studied genes independently. [ABSTRACT FROM AUTHOR]

The present study tested the hypothesis that hyperhomocysteinemia (hHcys) induces podocytes to undergo epithelial-to-mesenchymal transition (EMT) through the activation of NADPH oxidase (Nox). It was found that increased homocysteine (Hcys) level suppressed the expression of slit diaphragm-associated proteins, P-cadherin and zonula occludens-1 (ZO-1), in conditionally immortalized mouse podocytes, indicating the loss of their epithelial features. Meanwhile, Hcys remarkably increased the abundance of mesenchymal markers, such as fibroblast specific protein-1 (FSP-1) and α-smooth muscle actin (α-SMA). These phenotype changes in podocytes induced by Hcys were accompanied by enhanced superoxide ( $$ {\text{O}}_2^{{ \cdot - }} $$) production, which was substantially suppressed by inhibition of Nox activity. Functionally, Hcys significantly enhanced the permeability of the podocyte monolayer coupled with increased EMT, and this EMT-related increase in cell permeability could be restored by Nox inhibitors. In mice lacking gp91 (gp91), an essential Nox subunit gene, hHcys-enhanced podocyte EMT and consequent glomerular injury were examined. In wild-type (gp91) mice, hHcys induced by a folate-free diet markedly enhanced expression of mesenchymal markers (FSP-1 and α-SMA) but decreased expression of epithelial markers of podocytes in glomeruli, which were not observed in gp91 mouse glomeruli. Podocyte injury, glomerular sclerotic pathology, and marked albuminuria observed in gp91 mice with hHcys were all significantly attenuated in gp91 mice. These results suggest that hHcys induces EMT of podocytes through activation of Nox, which represents a novel mechanism of hHcys-associated podocyte injury. [ABSTRACT FROM AUTHOR]

Cardiovascular disorders and coronary artery disease (CAD) are significant contributors to morbidity and mortality in heart patients. As genes of the folate/homocysteine pathway have been linked with the vascular disease, we investigated association of these gene polymorphisms with CAD/myocardial infarction (MI) using the novel approach of tetraprimer ARMS-PCR. A total of 230 participants (129 MI cases, 101 normal subjects) were recruited. We genotyped rs1801133 and rs1801131 SNPs in 5′10′ methylenetetrahydrofolate reductase ( MTHFR), rs1805087 SNP in 5′ methyltetrahydrofolate homocysteine methyltransferase ( MTR), rs662 SNP in paroxanse1 ( PON1), and rs5742905 polymorphism in cystathionine beta synthase ( CBS). Angiotensin converting enzyme ( ACE) insertion/deletion polymorphism was detected through conventional PCR. Covariates included blood pressure, fasting blood sugar, serum cholesterol, and creatinine concentrations. Our results showed allele frequencies at rs1801133, rs1801131, rs1805087 and the ACE insertion/deletion (I/D) polymorphism varied between cases and controls. Logistic regression, after adjusting for covariates, demonstrated significant associations of rs1801133 and rs1805087 with CAD in the additive, dominant, and genotype model. In contrast, ACE I/D polymorphism was significantly related with CAD where recessive model was applied. Gene-gene interaction against the disease status revealed two polymorphism groups: rs1801133, rs662, and rs1805087; and rs1801131, rs662, and ACE I/D. Only the latter interaction maintained significance after adjusted for covariates. Our study concludes that folate pathway variants exert contributory influence on susceptibility to CAD. We further suggest that tetraprimer ARMS-PCR successfully resolves the genotypes in selected samples and might prove to be a superior technique compared to the conventional approach. [ABSTRACT FROM AUTHOR]

Till date no community based data on plasma homocysteine is available in North Eastern Region. Hence, the present study was conducted to analyze and correlate the plasma homocysteine level with some life style factors like diet, alcohol intake, smoking habit and body weight, in a cross-section of population. 12 h fasting samples of 970 apparently healthy, Assamese population of both genders in the age group of 35–86 years, mostly from the urban area of Assam were tested for plasma total homocysteine level over a period of 3 years. Out of 970 volunteers, hyperhomocysteinemia was detected in 533 (55%) individuals with a mean value of 18.41 μmol/l. Of that hyperhomocysteinemia, 89.1% were in the range of moderately high and rest 10.9% were intermediate high. Another finding was that males had a tendency towards greater value (mean = 20.36 μmol/l) than females (mean = 16.37 μmol/l). It was observed that the relationship of homocysteine levels to gender and some of the life style factors were also significant. [ABSTRACT FROM AUTHOR]

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