A Ruptured Distal Posterior Inferior Cerebellar Aneurysm Our Case and Review of the Literature

We present a case of ruptured distal posterior inferior cerebellar artery (PICA) aneurysm, and review the literature and discuss the treatment strategy. A 77-year-old woman presented with the sudden onset of severe headache, nausea and vomiting. Computed tomography revealed an intraventricular hemorrhage, predominantly in the fourth ventricle and hydrocephalus with a thin subarachinoid hemorrhage (SAH). Angiography revealed an aneurysm arising at the turning point of the vessel, from the telovelotonsillar segment of the right PICA. On the 17 day after the onset, repeated angiography revealed a smaller aneurysm than the one detected on the first day at the same place and with no spasm. On the 22 day, the aneurysm was proved to be partially thrombosed and was safely clipped via a right lateral suboccipital approach. SAH with a fourth ventricular hemorrhage or an isolated fourth ventricle hemorrhage should raise the suspicion of a distal PICA aneurysm. Aneurysms of the distal PICA have often been reported to arise at a turning point of the artery rather than at a junction of the vessel. It is suggested that the pathogenesis could be hemodynamic stress that has developed due to embryological factors. Distal PICA aneurysms have often gone detected in many previous cases because of thrombosis inside the aneurysms. Thus, particularly in the case of intentionally delayed surgery, we recommend repeated angiography under various conditions to identify how the aneurysm develops just before surgery

Phenotypes of pain behavior in phospholipase C-related but catalytically inactive protein type 1 knockout mice

Phospholipase C-related inactive protein (PRIP) plays important roles in trafficking to the plasma membrane of GABAA receptor, which is involved in the dominant inhibitory neurotransmission in the spinal cord and plays an important role in nociceptive transmission. However, the role of PRIP in pain sensation remains unknown. In this study, we investigated the phenotypes of pain behaviors in PRIP type 1 knockout (PRIP-1 -/- ) mice. The mutant mice showed hyperalgesic responses in the second phase of the formalin test and the von Frey test as compared with those in wild-type mice. In situ hybridization studies of GABAA receptors revealed significantly decreased expression of γ2 subunit mRNA in the dorsal and ventral horns of the spinal cord in PRIP-1 -/- mice, but no difference in α1 subunit mRNA expression. β2 subunit mRNA expression was significantly higher in PRIP-1 -/- mice than in wild-type mice in all areas of the spinal cord. On the other hand, the slow decay time constant for the spontaneous inhibitory current was significantly increased by treatment with diazepam in wild-type mice, but not in PRIP-1 -/- mice. These results suggest that PRIP-1 -/- mice exhibit the changes of the function and subunits expression of GABAA receptor in the spinal cord, which may be responsible for abnormal pain sensation in these mice

HLA-DRB1 and DQB1 alleles in Japanese type 1 autoimmune hepatitis: The predisposing role of the DR4/DR8 heterozygous genotype

ObjectiveAutoimmune hepatitis (AIH) is a chronic progressive liver disease. AIH is composed predominantly of type 1 in Japanese populations. The genetic and environmental factors are associated with the pathogenesis of AIH. HLA-DRB1*03:01 and *04:01 are associated with type 1 AIH in European and *04:05 in Japanese populations. Here, we conducted an HLA association study in order to find HLA alleles or haplotypes predisposing or protective for Japanese AIH.MethodsHLA-DRB1 and DQB1 genotyping of 360 type 1 AIH patients and 1026 healthy controls was performed.ResultsThe predisposing association of DRB1*04:01 (P = 0.0006, corrected P [Pc] = 0.0193, odds ratio [OR] 2.97, 95% confidence interval [CI] 1.62–5.43), DRB1*04:05 (P = 1.89×10−21, Pc = 5.86×10−20, OR 3.41, 95% CI 2.65–4.38), and DQB1*04:01 (P = 4.66×10−18, Pc = 6.99×10−17, OR 3.89, 95% CI 2.84–5.33) and the protective association of DRB1*13:02 (P = 0.0003, Pc = 0.0080, OR 0.48, 95% CI 0.32–0.72) with Japanese type 1 AIH were observed. An association of the DR4/DR8 heterozygous genotype with Japanese AIH was identified for the first time (P = 3.12×10−9, OR 3.52, 95% CI 2.34–5.29). Susceptible diplotypes were DRB1*04:05-DQB1*04:01/DRB1*08:02-DQB1*03:02 (P = 0.0004, OR 24.77, 95% CI 1.45–424.31) and DRB1*04:05-DQB1*04:01/DRB1*08:03-DQB1*06:01 (P = 1.18×10−6, OR 10.64, 95% CI 3.19–35.46). Serum levels of Immunoglobulin G and Immunoglobulin M, International Autoimmune Hepatitis Group score, positive rate of anti-smooth muscle antibodies, and the rate of definite AIH were higher in AIH patients with DRB1*04:05 than without.ConclusionsThe important roles of specific combinations of DRB1 and DQB1 alleles or haplotypes in the pathogenesis of type 1 AIH were suggested. The association of DR4/DR8 heterozygous genotype suggested the pathologic importance of trans-complementing DQα-β heterodimer molecules encoded by DQA1 allele of one haplotype and the DQB1 allele of the other haplotype, as it was proposed in the HLA association studies of Type 1 diabetes

Lack of association between the CARD10 rs6000782 polymorphism and type 1 autoimmune hepatitis in a Japanese population

Background: Previous genome-wide association studies have evaluated the impact of common genetic variants and identified several non-HLA risk loci associated with autoimmune liver diseases. More recent genome-wide association studies and replication analyses reported an association between variants of the CARD10 polymorphism rs6000782 and risk of type 1 autoimmune hepatitis (AIH). In this case-control study, we genotyped 326 Japanese AIH patients and 214 control subjects. Results: Genomic DNA from 540 individuals of Japanese origin, including 326 patients with type-1 AIH and 214 healthy controls, was analyzed for two single nucleotide polymorphisms (SNPs) in the CARD10 gene. We selected CARD10 rs6000782 SNPs and genotyped these using PCR-RFLP method and direct sequencing. The Chi square test revealed that the rs6000782 variant alle (c) was not associated with the susceptibility for AIH in a Japanese population [p = 0.376, odds ratio (OR) 1.271, 95 % confidence interval (CI) 0.747-2.161] in an allele model. Our data also showed that CARD10 rs6000782 variants were not associated with AIH or with the clinical parameters of AIH. Conclusions: In this study we examined an association between rs6000782 SNPs in the CARD10 gene and type-1 AIH. Results showed no significant association of rs62000782 with type-1 AIH in a Japanese population. This study demonstrated no association between CARD10 rs6000782 variants and AIH in a Japanese population

A Case of Venous Angioma with Arteriovenous Shunts : Case Report

A 35-year-old man presented with a sudden headache and disturbance of consciousness. On admission, his consciousness level was Japan Coma Scale 100. Computed tomography disclosed a subarachnoid hemorrhage (SAH) and right cerebellar hematoma. Angiography was performed and, at first, arteriovenous malformation of the posterior fossa was diagnosed. Then external decompression of the posterior fossa and ventricular drainage were performed, followed by barbiturate therapy. Repeat angiography revealed that the lesion was a venous angioma with arteriovenous shunts. On day 37, subtotal removal of the lesion was performed. Intraoperatively, acute brain swelling emerged and partial internal decompression of the right cerebellar hemisphere was performed. The postoperative course was comparatively good and the patient was discharged with very mild ataxia. The patient is now being followed up in our outpatient clinic

Reconstruction of Pterional Key Hole Using Three-dimensional Titanium Plate : Technical Note

Patients who have undergone pterional craniotomy sometimes complain about postoperative cosmetic impairment in the frontotemporal area. This problem occurs as a result of inappropriate repair or no repair of the pterional key hole. The authors have developed an intraoperative hand-made three-dimensional titanium plate, and as a result of using this plate the postoperative cosmetic appearance was satisfactory

Morphological Pattern and Classification of the Superficial Middle Cerebral Vein by Cadaver Dissections: An Embryological Viewpoint

In this study, we used 45 adult cadaveric cerebral hemispheres to investigate the anatomical classification of the superficial middle cerebral vein (SMCV) based on the number of stems, course, and anastomosis at the distal portion. We classified the SMCVs into five types based on embryological concept. Type A (18 cases, 40.0%) is that the frontosylvian veins (FSVs) merge with the vein of Trolard (VT) and the vein of Labbé (VL) at the distal portion of the sylvian fissure. Type B (5 cases, 11.1%) is that the temporosylvian veins (TSVs) merge with the VT and the VL at the distal portion. Type C (13 cases, 28.9%) is that no vein merge with the VT and the VL at the distal portion. The VT merges with the SMCV from the FSV and the VL merges with the SMCV from the TSV. They course along the sylvian fissure and merge at the proximal portion. In Type D (eight cases: 17.8%), the VT and the VL merge at the distal portion, and the SMCV from the FSV and the SMCV from the TSV join their confluence without merging. Type E (one case, 2.2%) show an undeveloped SMCV. Formation rate of intravenous anastomoses or bridging veins(BVs) at the distal portion between the frontosylvian trunk (FST) and the temporosylvian trunk (TST), between the FST and the temporal lobe, and between the TST and the frontal lobe was very low, because these formation may be difficult to occur during the embryological process in which the SMCV is formed from the telencephalic vein

A Japanese Pedigree of Familial Cerebral Cavernous Malformations : A Case Report

Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/ CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported. A Japanese pedigree of 4 patients with FCCM has been reported that includes the genetic analysis of one of the patients. All 4 patients showed multiple lesions in the brain. Surgical removal was performed at our hospital due to enlargement or hemorrhage of the intracranial lesions in a 21-year-old female (Case 1) and a 30-year-old male (Case 2). The histological diagnoses were cavernous malformations. A 62-year-old female (Case 4), the mother of Cases 1, 2, and 3, suffered from intramedullary hemorrhage at T6-7 and surgical removal was performed at another hospital. Only one patient, a 32-year-old female (Case 3), did not show symptoms. The genetic analysis of Case 2 demonstrated heterozygous partial deletions of exons 12-15 of the KRIT1 gene