Epstein-Barr virus reactivation-related meningoencephalitis with transverse myelitis in pregnancy.

Key Clinical Message: Consider the differential of Epstein-Barr virus (EBV) reactivation in pregnant women who develop progressive meningoencephalitis and transverse myelitis. EBV nucleic acid amplification should be considered in immunosuppressed patients. Abstract: A 32-year-old G10P6M3K22 pregnant female presented to a regional hospital with progressive severe neurological and behavioral deficits. Magnetic resonance revealed cervical transverse myelitis. Lumbar puncture confirmed Epstein-Barr virus (EBV) DNA on a background of IgG-positive EBV serology. A diagnosis of EBV reactivation-related meningoencephalitis with transverse myelitis in pregnancy was concluded.

Support for "Disease-Only" Genotypes and Excess of Homozygosity at the CYTH4 Primate-Specific GTTT-Repeat in Schizophrenia.

OBJECTIVE: The role of short tandem repeats (STRs) in the control of gene expression among species is being increasingly understood following the identification of several instances in which certain STRs occur identically, or expand differentially, in primates versus nonprimates. These STRs may regulate genes that participate in characteristics that are associated with the divergence of primates from sibling orders (e.g., brain higher order functions). The CYTH4 gene contains the longest tetranucleotide STR in its core promoter, at 7-repeats, and links to the evolution of human and nonhuman primates. Allele and genotype distribution of this STR were studied in patients affected by schizophrenia (SCZ) and controls. METHODS: High-resolution data were obtained on the allele and genotype distribution of the CYTH4 STR and a novel C > T single-nucleotide polymorphism (SNP) at its immediate upstream sequence in 255 patients with SCZ and 249 controls. Each sample was sequenced twice using the fluorescent dye termination method. RESULTS: Novel alleles were detected at the long extreme of the GTTT-repeat, at 10- and 11-repeats, in the SCZ cases and controls. Excess of homozygosity was observed for the entire range of alleles across the GTTT-repeat and the C > T SNP in the SCZ patients in comparison with the controls (Yates corrected p < 0.011). Three genotypes consisting of the 11-repeat allele (i.e., 11/11, 10/11, and 7/11) were detected only in the SCZ patients (i.e., disease-only genotypes), and contributed to 2.3% of the SCZ genotypes (Mid p exact <0.007). The frequency of the 11-repeat allele was estimated at 0.02 and 0.006 in the SCZ patients and controls, respectively (Mid p exact <0.006). CONCLUSION: This indicates that STR genotypes that are absent in the control group may be risk factors for SCZ. Future studies are warranted to test the significance of our findings.

Association of ß-Secretase Functional Polymorphism with Risk of Schizophrenia.

AIM: The NRG1-ERBB4 neurotransmitter signaling pathway plays a key role in the pathogenesis of schizophrenia (SZ). The intronic single-nucleotide polymorphism rs707284 in ERBB4 links to PI3K-AKT suppression in SZ. Another protein indirectly affecting NRG1-ERBB4 signaling is ß-secretase, which is encoded by the BACE1 gene, and activates NRG1 by proteolytic cleavage. In this study, we aimed to investigate the association of ERBB4 rs707284 and BACE1 rs490460 with the risk of SZ in an Iranian population. SUBJECTS AND METHODS: A total of 973 subjects, including 480 SZ patients and 493 healthy controls, matched by ethnicity, age, and gender, were recruited in a case-control study. Genomic DNA was extracted from peripheral blood of all subjects and genotyping of rs707284 and rs490460 was performed using polymerase chain reaction (PCR)-restriction fragment length polymorphism and tetra-primer amplification refractory mutation system (tetra-ARMS) PCR genotyping assays, respectively. RESULTS: A significant association was observed between the rs490460 T allele and SZ (p = 0.0002, odds ratio 0.69, 95% confidence interval 0.57-0.84). There was no association between the risk of SZ and rs707284. CONCLUSION: Our data indicate that rs490460 is associated with the risk of SZ. In silico analysis indicates that rs490460 may be a potential splicing site, which affects protein structure. Replication studies are needed to confirm our data.

Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.

AIMS: Parkinson's disease (PD) is one of the most common neurodegenerative disorders; its etiology includes both genetic and environmental factors and their interactions. The ZNF512B, SLC41A1, and ALDH2 genes have recently been identified as contributing to PD. In this study we investigated the association of alleles of these genes with PD in the Iranian population. METHODS: In a case-control study, rs2275294, rs11240569, and rs4767944, three single nucleotide polymorphisms in ZNF512B, SLC41A1, and ALDH2 genes, respectively, were genotyped in 490 PD patients and 490 controls. The genotype and allele frequencies were compared between the two groups using chi-square and logistic regression tests. RESULTS: A significant association between the rs11240569 polymorphism and a reduced risk of PD was found (p = 0.014, OR = 0.76, 95% CI: 0.60-0.94 for allele frequencies). We did not find any associations between PD and the rs2275294 and rs4767944 polymorphisms. CONCLUSION: The association of rs11240569 polymorphism in SLC41A1 gene with reduced risk of PD was replicated in our population.

Hyperhomocysteinemia, folateo and B12 vitamin in Iranian patients with acute ischemic stroke.

BACKGROUND: The objective of this study was to evaluate the association of some factors such as serum levels of homocysteine, folate and B12 vitamin with stroke in acute ischemic stroke patients. METHODS: In this case control study, serum levels of homocysteine, folate and B12 vitamin in 93 patients with acute ischemic stroke admitted to Imam Khomeini Hospital between September 2008 and January 2010, and 93 healthy controls were measured. Cerebrovascular risk factors including age, sex, hypertension, hyperlipidemia, smoking, diabetes mellitus, alcohol consumption, coronary artery disease and obesity were recorded. The results were compared between the case and control groups. RESULTS: The mean ± standard deviation (SD) of fasting total homocysteine (tHcy) level in acute ischemic stroke patients was 20.58 ± 19.6 µmol/l, which was significantly higher than that of control group being 14.11 ± 9.5 µmol/l (P = 0.002). 39 (41.9%) stroke cases and 25 (26.8%) controls had hyperhomocysteinemia. There were no significant relationships between tHcy, folate and B12 vitamin levels with the above mentioned cerebrovascular risk factors except for smoking (p> 0.05). No significant difference in B12 vitamin and folate levels between patients and healthy controls were detected (P> 0.05). CONCLUSION: Hyperhomocysteinemia is common in Iranian patients with acute ischemic stroke and might play a role as an independent risk factor in stroke.