Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer

Glomangiosarcoma is a rare malignant variant of the glomus tumor (GT). It has been reported in different anatomical locations, with only 1 report of its localization to the hand, despite the fact that its benign counterpart is most frequently found there. There is only 1 report of glomangiosarcoma that has metastasized. Special attention should be paid to GTs that are not well circumscribed, since the possibility of persistence and malignant transformation is increased in these lesions. The treatment of choice for glomangiosarcomas is wide local excision.     

Apolipoprotein B gene polymorphisms in Taiwanese ischemic stroke patients

We analyzed the AluI restriction fragment length polymorphism (RFLP) of the apolipoprotein B (apoB) gene to determine the association between AluI allelic distribution and the occurrence of ischemic stroke in Taiwan. A total of 44 healthy volunteers and 159 ischemic stroke patients were included in the study. The allele frequency of AluI was very similar in the two groups, 0.87 in the patient group and 0.89 in the control group, for the major allele A-. The distribution of A-/A-, A-/A+, and A+/A+ genotypes of the patients was not significantly different from that of the controls. Among ischemic stroke patients, the A+ allele of the AluI restriction site was significantly associated with elevated apoB levels. The results of this study suggest that the presence of the rare AluI RFLP may contribute to an elevated plasma apoB level, which is a known risk factor for ischemic stroke.     

Apolipoprotein(a) size polymorphism in young adults with ischemic stroke

Gastrin and cholecystokinin (CCK) are two major regulatory peptides synthesized by human gut and brain tissues as well as by selected tumors, in particular gastrin-producing neuroendocrine tumors. In the present study we have evaluated gastrin and CCK gene expression in a group of primary human tumors, including neuronal, renal, and myogenic stem cell tumors, using in situ hybridization techniques. In addition, CCK-A and CCK-B receptors were evaluated in the same group of tumors with receptor autoradiography. Most tumors had gastrin messenger ribonucleic acid (mRNA): 10 of 11 medulloblastomas, 5 of 5 central primitive neuroectodermal tumors, 11 of 11 Ewing sarcomas, 8 of 10 neuroblastomas, 4 of 4 Wilms' tumors, 5 of 5 rhabdomyosarcomas, and 10 of 10 leiomyosarcomas. CCK mRNA was restricted predominantly to Ewing sarcomas (9 of 11) and leiomyosarcomas (5 of 10). CCK-A and CCK-B receptors were not frequently found in these tumors, except for leiomyosarcomas. These data suggest that gastrin and CCK may play a previously unrecognized role in this group of human stem cell tumors. If the increased gastrin mRNA indeed translates into increased gastrin production, measurement of gastrinemia may have a diagnostic significance in the early detection of these tumors. As these two hormones have been reported to act as potent growth factors, they may be of pathophysiological relevance for patients with such stem cell tumors.     

Genetic variation in the promoter region of the beta-fibrinogen gene is associated with ischemic stroke in a Japanese population

Seventy-three consecutive unicompartmental knee arthroplasties (UKAs) using a Marmor-style non-metal-backed cemented tibial component were performed from 1975 to 1990. Sixty-seven knees (58 patients) were evaluated with minimum 5-year follow-up (mean, 9.7 years; range, 5-20 years). Knee rating and patient function were assessed using the updated Knee Society scoring system. Survivorship was 91% at 5 years, 84% at 10 years, and 79% at 15 years. The mean knee rating for surviving implants was 91 (range, 48-100), and mean functional score was 77 (range, 5-100). Survivorship and functional outcome were not affected by body habitus, age, gender, or tibial component thickness. UKA offers long-term relief of symptoms and excellent knee function in a high percentage of carefully selected patients with single compartment gonarthrosis.     

Angiotensin-converting enzyme gene polymorphism in essential hypertensive patients in Japanese population

Association between angiotensin-converting enzyme (ACE) gene polymorphism and essential hypertension in a Japanese population with the same socioeconomic background was investigated. Insertion-deletion (I/D) polymorphism of the ACE gene located on intron 16 was detected by polymerase chain reaction. Association between ACE gene polymorphism and family history of essential hypertension as well as the development of vascular damage in eye fundi were also investigated. Variation at ACE loci did not contribute to essential hypertension and the vascular damages in eye fundi. These results suggest that the ACE gene was not directly responsible for essential hypertension in this particular Japanese population with the same socioeconomic background.     

Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages

To determine the effects of daily supplementation of 0.5 mg folic acid on homocysteine and folate concentrations, we investigated 49 women with a history of unexplained recurrent miscarriages. A methionine loading test (including the vitamin concentrations of concern) was used preceding and after 2 mo of folic acid intake. Subsequently, these effects were studied after stratification for C677T 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphism. Folic acid supplementation (for 2 mo) reduced the median fasting and delta (after-load minus fasting) total plasma homocysteine (tHcy) concentrations 27% (P < 0.001) and 14% (P < 0.05), respectively. Median serum and red cell folate concentrations increased 275 and 70%, respectively (P < 0.01). The homocysteine-lowering effect was most marked in women with the highest tHcy concentrations at baseline. All MTHFR-genotypes (homozygous T/T, n = 8; heterozygous T/C, n = 23; wild type C/C, n = 18) had a different response to the supplementation. After 2 mo, homozygous women showed the greatest decline in median fasting (-41%; P < 0.01) tHcy concentrations, but the lowest absolute increase in serum folate concentration (+26 nmol/L; P < 0.05). In conclusion, 2 mo of daily supplementation of 0. 5 mg folic acid in women with a history of unexplained recurrent miscarriages caused, in general, substantially reduced tHcy concentrations. This effect was most distinct in women with the highest tHcy concentrations at baseline and in women homozygous for the 677 C-->T mutation of the MTHFR-gene.     

Association study of a functional catechol-O-methyltransferase gene polymorphism in Japanese schizophrenics

Catechol-O-methyltransferase (COMT) is an enzyme which inactivates catecholamine neurotransmitters by methylation, and is considered a candidate for involvement in schizophrenia. A functional COMT gene polymorphism influencing the enzyme activities, the high activity (val-108) and the low activity allele (met-108), was recently confirmed. We investigated a genetic association between schizophrenia and the COMT gene polymorphism in 150 Japanese schizophrenics and controls. We detected the low activity met-108 allele more frequently in schizophrenics than in the controls, and found that subjects sharing the met-108 allele (val/met and met/met) are significantly more common in the patients than in the controls. The results suggest that the low activity met-108 allele may be involved in susceptibility for schizophrenia.     

HMG-CoA reductase inhibitor and risk of stroke

A 75-year-old-man who had been occupationally exposed to asbestos over several decades was admitted complaining of dry cough and mild exertional dyspnea. Chest X-ray films revealed the presence of bilateral infiltrates. An open biopsy showed the lung pathology to be desquamative interstitial pneumonitis (DIP), and detected a calcified plaque of the left parietal pleura at cost-phrenic sulcus, which on microscopic inspection demonstrated thin needle-like structures suggestive of asbestos particles. A hormonal examination showed decreased levels of tri-iodothyronine and tetraiodothyronine and an increased level of thyroid stimulating hormone. Additionally, a positive microsome test indicated autoimmune hypothyroidism. A serological study was positive for anti-nuclear antibody and direct Coombs, and showed heightened levels of IgG. The patient was placed on oral prednisolone therapy; one month later, his symptoms had subsided, and his lung function and chest x-ray findings had improved significantly. In addition, the abnormal values for autoimmune and thyroid function eventually returned to normal ranges. These findings suggest that DIP and humoral immune dysfunction were caused by asbestos exposure, and responded well to steroid treatment.     

Neuro-ultrasonographic evaluation of ischemic stroke

INTRODUCTION AND DEVELOPMENT: The development of new management strategies for acute stroke demands better understanding of the ischemic mechanism, cerebrovascular anatomy, and cerebral hemodynamics for individual patients. The use of carotid duplex sonography, transcranial Doppler sonography, and echocardiography allows evaluation of the key areas of interest in a prompt, safe, accurate, and cost effective manner. CONCLUSIONS: Knowledge of these methods is essential for neurologist caring for patients with stroke.     

Local intra-arterial thrombolysis in acute ischemic stroke

BACKGROUND AND PURPOSE: We performed a retrospective analysis of the prognostic factors in patients treated with local intra-arterial thrombolysis (LIT). The purpose of this study was to evaluate the safety and efficacy of LIT using urokinase in patients with acute ischemic stroke of the anterior or posterior circulation and to determine the influence of clinical and radiological parameters on outcome. METHODS: Forty-three patients were treated with LIT using urokinase (median dose, 0.75x10(6) IU). The median National Institutes of Health Stroke Scale (NIHSS) score at hospital admission was 18 (range, 9 to 36). Nine patients had occlusions of the internal carotid artery (ICA), 23 of the middle cerebral artery (MCA), 1 of the anterior cerebral artery, and 10 of the basilar artery (BA). Outcome was assessed after 3 months and classified as good for Rankin Scale (RS) scores of 0 to 3 and poor for RS scores of 4 or 5 and death. RESULTS: Nine patients (21%) recovered to RS scores 0 or 1, 17 (40%) to scores of 2 or 3, and 7 (16%) to scores of 4 or 5. Ten patients (23%) died. Outcome was good in 17 patients (80%) with MCA occlusions, in 3 patients (33%) with ICA, and in 5 patients (50%) with BA occlusions. Good outcome was associated with an initial NIHSS score of <20 (P<0.001), improvement by 4 or more points on NIHSS score within 24 hours (P=0.001), and vessel recanalization (P=0.02). Recanalization was more likely if LIT was started within 4 hours (P=0.01). Symptomatic cerebral hemorrhage occurred in 2 patients (4.7%). CONCLUSIONS: LIT was most efficacious in patients with MCA and BA occlusions when the initial NIHSS score was less than 20 and when treated within 4 hours. It is of limited value in patients with distal ICA occlusions.