Subclinical very late thrombus formation inside and outside the everolimus-eluting stent implanted 3 years prior in a patient with provoked coronary spasms.

A 63-year-old man with non-ST-elevation acute myocardial infarction had undergone PROMUS Element stent implantation for stenosis with thrombus in the left main trunk and the proximal left anterior descending artery. A 6-month follow-up angiography revealed no restenosis or stent thrombosis, but severe provoked spasms in three vessels, for which medications were administered. Three years later, the patient experienced new-onset rest angina one morning. Optical coherence tomography revealed subclinical very late stent thromboses inside and outside the stent. The patients experienced a severe spasm. Platelet function was adequately reduced, and the cytochrome P450 2C19 genotype indicated an extensive metabolizer phenotype. The spasm may have caused the thromboses.

Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.

This study reports the first family in which spinocerebellar ataxia type 6 (SCA6) and spinocerebellar ataxia type 31 (SCA31) mutations were seen. An index patient first presented to our hospital due to gait and speech disturbances. Subsequent clinical investigation of this patient and her family members revealed consistent pure cerebellar ataxia transmitted in an autosomal-dominant manner. Genetic examination unexpectedly demonstrated that two of the five affected individuals had expansions of SCA6 and SCA31, while two others had SCA31 alone and the remaining had SCA6. Clinical manifestations were more severe in individuals with combined mutations relative to those with single mutation, suggesting that the SCA6 and SCA31 mutations have a cumulative pathogenic effect.

Resolution of left ventricular thrombus secondary to tachycardia-induced heart failure with rivaroxaban.

A 42-year-old man was admitted to our hospital because of lumbago and tachycardia-induced heart failure. Transthoracic echocardiography revealed impaired left ventricular function and a ball mass of thrombus in the left ventricle (LV). He was found to have systemic embolism in the spleen, kidneys, brain, and limbs. The patient was treated with limb thrombectomy followed by anticoagulation. Seven days after the direct factor Xa inhibitor, rivaroxaban, was initiated, transthoracic echocardiography was repeated, revealing disappearance of the LV thrombus without any clinical signs of cardiogenic embolism. His heart failure responded well and the LV wall motion had improved. This case suggests rivaroxaban has fibrinolytic effects on thrombi even in the LV.

A case of late iliac arterial thrombosis due to component migration after revision total hip arthroplasty.

Although vascular injuries associated with primary and revision total hip arthroplasty are infrequent, these complications can have devastating effects that can lead to morbidity and even mortality. A few previous reports have described embolic distal limb ischemia secondary to a failed and migrated acetabular implant in discontinuity with the pelvis. We present a rare case in which a support ring from a failed and migrated acetabular cage construct led to injury of the common femoral artery. The patient developed acute thrombotic occlusion leading to distal extremity ischemia even after oral anticoagulant therapy. The patient was treated with embolectomy with a Fogarty catheter, replacement of the injured common femoral artery with an InteRing 8 mm, and removal of the offending hardware. Recognition of the risks associated with failed and migrated components is important to prevent this complication for cardiologists as well as orthopedic surgeons. .

[Present state of predictive genetic testing for neuromuscular diseases: an overview by a neurologist in a local hospital].

Genetic tests for asymptomatic persons, who have family members with hereditary neuromuscular diseases, should be done carefully by following strict rules. For example, an examinee should be given a clear plan for clinico-psychological and social support services in case of testing positive. It is very important to assess the potential impact of genetic test results, so the anticipatory guidance should be provided times without number.It is difficult for local hospitals however, to fulfill such conditions during a primary genetic counseling, as they have limited staff. Our hospital is a case in point, where just one neurologist, who is also a certified clinical geneticist, provides the counseling, with the help of nurses, and social workers.The availability of second and third level genetic counseling systems have made it possible for us to carry out primary counseling, and we make every effort to ensure that clients and patients can avail our services any time, and without any constraints.In my opinion, a comprehensive education system to train primary care physicians in genetic testing and primary genetic counseling would prove beneficial for a lot of clients and also reduce the burden on neurologists.

The relationship between right ventricular lead position and paced QRS duration.

BACKGROUND: The relationship between the anatomical location of right ventricular pacing site and paced QRS duration is unclear. In this study, we aimed to investigate the relationship between right ventricular pacing site and paced QRS duration using cardiac angiography. METHODS: Fifty patients were implanted with pacemakers. The right ventricular lead position was determined from the findings of cardiac angiography and the paced QRS duration was measured. Cardiac angiography was used to display the right ventriculogram (RVG) and the left ventriculogram (LVG). The RVG view was divided into three areas and the LVG view was divided into four areas. RESULTS: The paced QRS duration value was significantly longer in the right ventricular apex area compared with the outflow and inflow areas (160 ± 15 ms vs 140 ± 15 ms, P = 0.02, and vs 133 ± 17 ms, P < 0.001, respectively), but those values were not statistically significantly different between the right ventricular outflow and the right ventricular inflow areas (140 ± 15 ms vs 133 ± 17 ms, P = 0.187). When assessed with LVG views, there were the statistically significant differences in the paced QRS duration values in all areas except the apex area. (LV mid-anterior: 147 ± 11 ms vs LV base: 127 ± 13 ms, P < 0.001, and vs LV mid-septum: 129 ± 12 ms, P = 0.001, respectively.) CONCLUSIONS: Cardiac angiography showed that there was a relationship between the anatomical right ventricular pacing site and paced QRS duration. Cardiac angiography can help determine the areas that produce shorter paced QRS duration.

High level of expression of alpha-fetoprotein receptor in gastric cancers.

The expression of the receptor for alpha-fetoprotein (AFP-R) was examined immunohistochemically in 47 cancer and 14 benign human gastric tissues. Rabbit polyclonal antibody against human AFP-R was used for immunohistochemical staining. Thirty-four of the 47 cancer tissues expressed AFP-R showing granular or reticular staining on the cancer cell surface, while only 2 of 61 control cases (14 benign gastric tissues and 47 nonmalignant tissues adjacent to cancer) showed faint and homogeneous staining in the cytoplasm of noncancerous cells. There was a significant difference in staining intensity between the cancerous and noncancerous groups. However, no statistically significant difference in staining intensity was found among the groups of well-differentiated, moderately differentiated and poorly differentiated adenocarcinomas. On the other hand, the staining intensity of signet ring cell carcinoma was significantly weaker than that of the three adenocarcinoma groups. The high level of AFP-R expression in gastric cancers may allow the use of AFP-R as a new clinically useful marker of gastric cancer in the tissue level.

[Long-term usefulness and safety of the contemporary balloon catheter].

OBJECTIVE: To evaluate usefulness and safety of an indwelling contemporary balloon catheter, we compared complication rates among five methods of urinary tract management. PATIENTS AND METHODS: History of febrile episode, bladder stones, pyuria and the miscellaneous urinary tract problems of 114 patients were retrospectively reviewed. The rates of complications were compared among five types of urinary tract management as clean intermittent catheterization dry (not incontinent) (CIC-dry: n = 33), clean intermittent catheterization with incontinence (CIC-wet: n = 16), clean intermittent catheterization with a contemporary balloon catheter indwelling at night (Contemporary catheter: n = 20), a suprapubic cystostomy catheter indwelling (Cystostomy: n = 22) and permanent urethral balloon catheter indwelling (Urethral catheter: n = 24). The contemporary balloon catheter used consisted of a reusable balloon catheter and a reservoir to inflate the balloon. The patients in the Contemporary catheter group self-inserted the catheter every night before sleeping, and then removed it in the next morning. After use, the catheter was washed with tap water, and stored in a special purpose case filled with disinfectant. RESULTS: The mean follow up period was 41 months. The incidence of febrile episode in CIC-wet was 3.36 times/100 months, Urethral catheter was 2.96, Cystostomy was 1.26, Contemporary catheter was 0.57, and CIC-dry was 0.42. The incidence of febrile episode in CIC-wet and Urethral catheter were significantly higher than in CIC-dry (p<0.05). The incidence of bladder stone in Urethral catheter was 1.11 times/100 months, Cystostomy was 1.05, Contemporary catheter was 0.96, CIC-wet was 0.61, and CIC-dry was 0.21. The Urethral catheter group had significantly higher incidence of bladder stone than CIC-dry (p<0.05). CONCLUSIONS: The indwelling contemporary balloon catheter is recommended for long-term use in CIC-wet group.

Retroperitoneoscopic pyelolithotomy as initial treatment for upper urinary tract large stone.

We report a case in which retroperitoneoscopic pyelolithotomy was the procedure selected to treat a large stone in the upper urinary tract. A 71-year-old woman who had multiple cerebral infarction and dementia was admitted with a persistent high fever unresponsive to antibiotics. The diagnosis was pyelonephritis and urosepsis associated with ureteral calculus. A large calculus(3.0 x 2.0 cm)was found in the left ureter at the L3 level. She underwent nephrostomy of the left side. After the patient's general condition had improved, surgery was performed successfully with an uneventful recovery. The findings in this case confirm that retroperitoneoscopic surgery allows removal of a large stone in a single, minimally invasive procedures.

Two cases of hemiballism-hemichorea with T1-weighted MR image hyperintensities.

Two cases of hemiballism-hemichorea have been reported in woman patients with hyperglycemia; this was a feature of striatal hyperintensity on the T1-weighted MRI. In the first case, strict management of diabetes and treatment with pimozide effectively suppressed the movement disorder. The Z-score Imaging System revealed hyperperfusion in the bilateral dentate nuclei, left striatum, and bilateral motor cortices. In the second case, painful hemiballism-hemichorea limb, followed by the upper limb. The severity of HB-HC corresponded to the expansion of the striatal lesion. The mechanism of HB-HC by using statistical cerebral blood flow evaluation has also been discussed.

Anti-endostatin monoclonal antibody enhances growth of human hepatocellular carcinoma cells by inhibiting activity of endostatin secreted by the transplanted cells in nude mice.

Endostatin, a fragment of collagen XVIII, inhibits angiogenesis in tumors, and is expected to become a new anticancer drug. However, its effectiveness is still controversial, because some researchers failed to reproduce the same marked regression of tumors by the peptide. We gave anti-endostatin monoclonal antibody, designated as CH18B, to nude mice transplanted with human hepatocellular carcinoma cells (JHH-1 line) that endogenously produced endostatin from collagen XVIII secreted by the cells themselves. As a result, CH18B promoted tumor angiogenesis by inhibiting endostatin activity in the tumor and subsequently increased tumor mass by preventing cancer cells from undergoing apoptosis. But the antibody itself did not stimulate proliferation of the tumor cells. Our present experimental procedure, the use of anti-endostatin antibody, definitely solved the question whether endostatin might exert its anticancer activity.

Pantothenate kinase-associated neurodegeneration initially presenting as postural tremor alone in a Japanese family with homozygous N245S substitutions in the pantothenate kinase gene.

We describe a 24-year-old Japanese woman with pantothenate kinase-associated neurodegeneration (PKAN) whose only early symptom was postural tremor in the right hand at around 18 years of age, leading to a diagnosis of essential tremor at age 21. Although she was treated with arotinolol hydrochloride and clonazepam, she gradually progressed to extrapyramidal and pyramidal signs several years later. T2-weighted magnetic resonance images (MRI) showed bilaterally marked hypointensity with a central region of hyperintensity in the globus pallidus, or the so-called "eye-of-the-tiger" sign. Six years have passed since the initial appearance of postural tremor, whereas she has not shown choreoathetosis, retinitis pigmentosa, optic atrophy, or seizure. Direct sequencing of the patient's genomic DNA revealed homozygous base substitutions in the pantothenate kinase gene (PANK2): the A764-->G substitution (N245S) due to consanguinity of her parents. Although the heterozygous form of this mutation has already been reported among several families, this is the first report of the homozygous mutation in a patient with atypical-type PKAN. This detailed description of the clinical features of a Japanese patient with PKAN arising from homozygous N245S mutations in PANK2 would be useful for elucidating the pathogenesis of PKAN.

An overview of regular dialysis treatment in Japan (as of 31 December 2001).

Questionnaire forms for an annual survey conducted at the end of 2001 were sent out to 3520 institutions, and 3485 replies were received (response rate, 99.00%). According to the survey, the dialysis population of Japan at year end was 219 183 patients, up 6.3% (13 049) over the year before. This equals 1721.9 dialysis patients per million population. The gross mortality rate was 9.3% for the year extending from the end of 2000 to the end of 2001. The mean age of patients beginning dialysis was 64.2 years (+/- 13.7 SD). The mean age of the overall dialysis population in the study year was 61.6 years (+/- 13.1 SD), which was also a higher age than the year before. Among dialysis patients, the primary disease was diabetic nephropathy in 38.1% of patients, slightly down from 39.1% the previous year. Chronic glomerulonephritis was the primary disease in 32.4% of cases, a decrease from 34.7% the previous year. This survey included for the first time the items of the lowest blood pressure during hemodialysis session, vasopressor therapy before dialysis and vasopressor therapy during dialysis session. An analysis of the relationship between the type of vascular access used at the initiation of dialysis and the survival prognosis revealed a significantly higher risk of death in patients undergoing dialysis with synthetic arterio-venous (AV) fistula, AV shunt, or catheter implantation into a central vein than in those receiving dialysis treatments with a native fistula. There was a significantly lower risk of death in the patient group in whom the vascular access was created at 3-6 months before initiation of dialysis than in those in whom such access was created at the time of initiation or within 3 months before the initiation of dialysis. An analysis of the risk factors affecting survival prognosis in maintenance hemodialysis patients showed that risk factors for death are post-dialysis systolic blood pressure over 180 mm Hg and lower than 120 mm Hg, blood pressure elevating progressively from the start to the end of dialysis, serum high density lipoprotein cholesterol concentration of less than 30 mg/dL, and a higher ultrafiltration rate. In comparisons of the death risk between the patient group with a history of intervention for ischemic heart disease and the patient group with a history of myocardial infarction or heart failure but without such intervention, among diabetes patients, those who underwent percutaneous transluminal coronary angioplasty had a significantly lower risk of death than those in whom no intervention was made.

Haplotype analysis of the human collectin placenta 1 (hCL-P1) gene.

Collectins are a family of C-type lectins found in vertebrates. These proteins have four regions, a relatively short N-terminal region, a collagen-like region, an alpha-helical coiled coil, and a carbohydrate recognition domain. Collectins are involved in host defense through their ability to bind carbohydrate antigens on microorganisms. Type A scavenger receptors are classical-type scavenger receptors that also have collagen-like domains. We previously described a new scavenger receptor, collectin from placenta [collectin placenta 1 (CL-P1)]. CL-P1 is a type II membrane protein with all four regions. We found that CL-P1 can bind and phagocytize both bacteria and yeast. In addition to that, it reacts with oxidized low-density lipoprotein (LDL) but not with acetylated LDL. These results suggest that CL-P1 might play important roles in host defenses and/or atherosclerosis formation. One rational strategy to study the role of CL-P1 in these pathological conditions would be to perform a haplotype association study using human samples. As a first step for this strategy, we analyzed the haplotype structure of the CL-P1gene. By sequencing the CL-P1 gene in ten Japanese volunteers, we identified five single-nucleotide polymorphisms (SNPs) with a minor allele frequency of at least 29%. To obtain SNPs in the 5'-upstream region of the gene, we screened a total of 20 SNPs described in the database and finally picked up one SNP for the present study. Thus, a total of six SNPs, one in the 5'-upstream region, two in intron 2, one in exon 5, and two in exon 6, were used to analyze the haplotype structure of the gene, with DNAs derived from 54 individuals (108 alleles). The analysis revealed that only two of six SNPs showed significant linkage disequilibrium ( r(2) > 0.5) with each other. This haplotype information may be useful in disease-association studies in which a contribution of the CL-P1 gene has been suspected, especially in immunological disturbance or atherosclerosis. Two SNPs in exon 6, both leading to amino acid substitutions, could be candidates for influencing disease susceptibility.