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Biomedical subjects

R Kira

Publications and source records attributed to R Kira.

At least 19 recordsLinked to original sources
PubMed2006

Analysis of MxA, IL-4, and IRF-1 genes in Filipino patients with subacute sclerosing panencephalitis.

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a chronic and debilitating disease of the central nervous system caused by a latent measles virus infection. Three candidate genes, MxA, IL-4, and IRF-1 genes were shown to be associated with SSPE in Japanese patients. These genes have been suggested to play a role in the establishment of persistent viral infection in the central nervous system. SUBJECTS AND METHODS: Sixty Filipino SSPE patients and 120 healthy control subjects were included in the study. Single nucleotide polymorphisms at promoter regions ( IL-4-590C/T and MXA-88G/T) were screened using PCR-RFLP method. Genotyping was done for GT repeat polymorphism within intron 7 of IRF-1. RESULTS: The TT genotype of MXA, as well as the CT genotype of IL-4, were seen a little more frequently among the SSPE patients as compared to the control subjects. The values though, did not reach statistical significance. IRF-1 analysis did not differ between the two groups. CONCLUSION: Our study failed to demonstrate a significant association between IL-4, MXA, or IRF-1, and SSPE in the Filipino population. Our results might be explained by a greater contribution of environmental factors such as the socio-economic and nutritional factors in the susceptibility of Filipinos to SSPE other than genetic factors.

Adolescent↗
PubMed2006

Persistent diffusion abnormalities in the brain stem of three children with mitochondrial diseases.

We report 2 children (patients 1 and 2) with Kearns-Sayre syndrome and 1 (patient 3) with Leigh syndrome, who underwent serial diffusion-weighted MR imaging (DWI) studies for 2.8 (patient 1), 4.2 (patient 2), and 1.0 years (patient 3). The DWI revealed the persistent hyperintense signals in the pontine and mesencephalic tegmenta. The apparent diffusion coefficient in the affected regions remained constantly low, suggesting that cytotoxic edema and spongiform degenerations may compose these brain stem lesions.

Basal Ganglia↗
PubMed2004

Functional MxA promoter polymorphism associated with subacute sclerosing panencephalitis.

BACKGROUND: The antivirally active MxA protein is induced by interferon (IFN) alpha/beta and inhibits the replication of single-stranded RNA viruses including measles virus (MV). The authors investigated whether the MxA gene contributed to the development of subacute sclerosing panencephalitis (SSPE) in Japanese individuals. METHODS: Single-nucleotide polymorphisms (SNP) in the promoter region of the MxA gene were screened, association studies were performed between two SNP and SSPE, and then a functional difference in the promoter activities of the two SNP was investigated by a dual luciferase reporter assay. RESULTS: Four SNP were found (-88 G/T, -123 C/A, -200 T/C, and -213 G/T), and SSPE patients exhibited a higher frequency of both the -88T allele and the -88TT genotype than controls (p = 0.040 and 0.003). The IFN-induced up-regulation of the MxA promoter activity of the sequence with -88T was found to be significantly higher than that with G. CONCLUSIONS: MxA promoter -88 G/T SNP may confer host genetic susceptibility to SSPE in Japanese individuals. The finding that homozygotes of the MxA -88T allele with a high MxA-producing capability were more frequently seen in SSPE patients suggests that the MxA protein promotes the establishment of persistent MV infection of neural cells.

Adolescent↗
PubMed2001

A magnetoencephalographic study on development of the somatosensory cortex in infants.

In order to examine the sensori-motor correlation in infants, we recorded the somatosensory evoked magnetic fields to tactile stimulation by using a 37-channel magnetoencephalograph. Twelve healthy infants were examined at palmar grasp stage and pincers grasp stage. Air-tapping stimulation of the right thumb was performed. Three distinct components (W1-3) emerged, W3, with a latency of approximately 100 ms, being the most prominent. As infants grew up, the correlation coefficient and the amplitude of the equivalent current dipole of W3 for the thumb increased. These developmental changes may be attributable to increases in the stability and reproducibility of the cortex in response to somesthetic inputs. Moreover, this change along with motor development supports the presence of a sensori-motor correlation in infants.

Aging↗
PubMed2001

Subependymal giant cell astrocytoma: clinical and neuroimaging features of four cases.

The clinical history, neuroimaging features, treatments, and outcome of 4 patients with histologically verified subependymal giant cell astrocytomas (SEGA) were retrospectively reviewed. The average age at the time of surgery was 13.3 years. Headache related to raised intracranial pressure was the first and only sign in 2 patients, with the remaining 2 being admitted because of sequential neuroimaging studies over several years revealing the growth of 'subependymal nodules' into intraventricular tumours. In each case the tumour was in the region of Monro's foramen and was associated with ventricular dilatation. On computed tomography (CT), multiple subependymal nodules were found in 3 patients, and these well circumscribed isodense SEGAs were markedly enhanced by contrast medium. On magnetic resonance imaging (MRI), which was obtained in 3 patients, 2 SEGAs were isointense with the cerebral cortex and one with the white matter on T1-weighted images, and on T2-weighted images, 2 were isointense with the cortex and one with the white matter. At surgery the tumours appeared to originate from the inferolateral wall of the lateral ventricle in the region of the head of the caudate nuclei. Total macroscopic removal was achieved in 3 patients, and subtotal removal in one patient. Follow up ranged from 4.6 to 13.2 years, and all patients have exhibited similar physical and mental conditions to preoperative. So far there has been no evidence of any recurrences. The diagnosis and the surgical indications for SEGA are discussed, with periodic monitoring with neuroimaging studies being recommended even for asymptomatic patients with 'subependymal nodules'.

Adolescent↗
PubMed2000

Age-related changes of the MR appearance of CNS involvement in neurocutaneous melanosis complex.

We report a case of giant congenital melanocytic nevi (GCMN) at risk of developing neurocutaneous melanosis (NCM) with age-related changes observable on MRI of the brain. However, although the usefulness of MR imaging in NCM is well known, age-related changes on MRI have rarely been reported. The prevalence of positive MRI findings and prognosis in GCMN accompanied by epilepsy and/or mental retardation awaits clarification. This case report may suggest the importance of serial brain MRI in cases of GCMN in assessing the risk of NCM.

Age Factors↗
PubMed2000

Diagnostic usefulness of diffusion-weighted magnetic resonance imaging in influenza-associated acute encephalopathy or encephalitis.

A magnetic resonance imaging (MRI) study was performed for a 20-month-old girl with an influenza type A infection who presented acute encephalopathy. Conventional MRI performed 8 days after the onset of encephalopathy, including T1-weighted, T2-weighted, and fluid-attenuated inversion recovery imaging, revealed only vague lesions in the right frontal, temporal, and parietal lobes. In contrast, diffusion-weighted imaging (DWI) then demonstrated the lesions much more intensively. On the 26th day, the lesions previously observed on DWI had become less discernible. The hyperintensity observed on DWI might reflect cytotoxic edema. Thus, DWI may be useful for evaluation of acute influenzal encephalopathy/encephalitis.

Acute Disease↗
PubMed2000

Acute disseminated encephalomyelitis in a female with hereditary neuropathy with susceptibility to pressure palsy.

A 7-year-old female presented with fever, urinary incontinence, mental regression, gait disturbance, and lethargy after diarrhea. Magnetic resonance imaging revealed multifocal T(2)-weighted hypersignal lesions supportive of acute disseminated encephalomyelitis. Her mother had been diagnosed with hereditary neuropathy with susceptibility to pressure palsy. The girl was also determined to have hereditary neuropathy with liability to pressure palsy, with a 1.5-Mb deletion in chromosome 17p11.2 encompassing the gene for peripheral myelin protein 22 detected by fluorescent in situ hybridization. Hereditary peripheral neuropathies may be a factor in triggering the autoimmune demyelinating disorder of the central nervous system.

Charcot-Marie-Tooth Disease↗
PubMed2000

Renal tubular acidosis associated with zonisamide therapy.

PURPOSE: We sought to report a previously undescribed adverse effect, renal tubular acidosis associated with zonisamide (ZNS) therapy. METHODS: Ammonium chloride, bicarbonate, and furosemide loading tests were performed in an epileptic patient with metabolic acidosis and episodic hypokalemia who was treated with ZNS. RESULTS: Distal renal tubular acidosis was diagnosed. On reexamination 7 weeks after ZNS had been replaced with phenytoin, the renal tubular acidosis disappeared. CONCLUSIONS: This case indicates, for the first time, that ZNS might be a potential cause of renal tubular acidosis. Blood gases and serum electrolytes should be measured in patients undergoing ZNS therapy.

Acidosis, Renal Tubular↗
PubMed2000

Neurotrophin-3 levels in cerebrospinal fluid from children with bacterial meningitis, viral meningitis, or encephalitis.

Neurotrophin-3 levels were measured in the cerebrospinal fluid of 35 patients with bacterial meningitis, viral meningitis, or encephalitis by two-site enzyme immunoassay. Elevated cerebrospinal fluid levels of neurotrophin-3 were demonstrated in 8 of 18 patients with bacterial meningitis. Follow-up examination of the eight patients at the convalescent stage showed diminished cerebrospinal fluid levels of neurotrophin-3. In contrast, none of the 17 patients with viral meningitis or encephalitis showed an elevation of neurotrophin-3 levels in cerebrospinal fluid. No relationships were observed between neurotrophin-3 levels and cerebrospinal fluid cell numbers, cerebrospinal fluid protein levels, serum C-reactive protein concentrations, or outcome in bacterial meningitis. Since neurotrophin-3 is involved in the survival of neurons and the modulation of the immune system, neurotrophin-3 could play a neuroprotective or immunomodulatory role in bacterial meningitis.

Adolescent↗
PubMed2000

Complement component 9 deficiency is not a susceptibility factor for SLE.

Almost all complement component 9 (C9) deficiency in Japan shows Arg95 Stop mutation of C9 gene. Therefore, we studied the prevalence of Arg95Stop mutation of C9 gene among 78 patients with SLE to elucidate the association of SLE and C9 deficiency. The Arg95Stop carrier frequency showed no significant difference between SLE patients and controls. Thus, C9 deficiency is not implicated in SLE susceptibility.

Complement C9↗
PubMed2000

[A case of ring 14 chromosome with ocular manifestations].

BACKGROUND: Ring 14 chromosome has been reported to be associated with mental retardation, craniofacial dysmorphology, and epilepsy. Flecked and/or pigmented retina are also ocular manifestations of this disease. CASE: A 29-year-old female suffered from seizures and developmental and growth delay. Narrow palpebral fissura, broad flat nose, large auricula, high arched palate, and short neck were present. Chromosomal analysis disclosed her ring 14 chromosome (p 11.2 q 32.3). Ophthalmologically, cortical cataract, refractive error (right--3.00 D, left--1.50 D), and yellow-white flecks in the macula and yellow-white spots in the mid-peripheral retina in both eyes were present. CONCLUSIONS: To date, ophthalmic changes concomitant to a breakpoint at 14 q 32.2 have been reported. We report a case of ring 14 chromosome with breakpoint at 14 q 32.3 which showed yellow flecks in the macula and mid-peripheral retina.

Adult↗
PubMed2000

[C9 deficiency].

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Asian People↗