Role of clinical laboratory in Japanese general hospital for equilibrium functional tests

Recent automation in clinical laboratories affords healthcare providers with numerous options in terms of physiological tests. However, the role of the clinical laboratory in the field of equilibrium functional tests is not clearly defined. Therefore, we conducted a questionnaire survey to define the role of clinical laboratories in general hospitals. We present the results of our investigation and the approach employed by the clinical laboratory of our hospital. Rates of healthcare providers desiring the conduct of equilibrium functional tests by clinical laboratories were 78% and 70% in otolaryngology and neurosurgery departments, respectively; moreover, 92% of technologists from clinical laboratories responded that an equilibrium functional test can be performed upon request. Furthermore, 84% of clinical laboratory staff members and 77% of staff from neurosurgery departments agreed that implementation of a system allowing each department to request equilibrium functional tests from the clinical laboratories is necessary. This finding was indicative of the high demand for equilibrium functional tests by clinical laboratories. Therefore, equilibrium functional tests offered by clinical laboratories not only reduce the workload of the otolaryngology department, but also result in a major contribution with respect to management of the entire hospital in terms of high quality examination findings and allocation of healthcare providers in other departments.     

Association of positional and functional candidate genes<Emphasis Type="Italic"> FGF1</Emphasis>,<Emphasis Type="Italic"> FBN2</Emphasis>, and<Emphasis Type="Italic"> LOX</Emphasis> on 5q31 with intracranial aneurysm

We previously performed a genome-wide linkage study of intracranial aneurysm (IA) and found positive evidence of linkage at chromosomes 5q22–31, 7q11, and 14q22. In the present study, we focus on 5q31, where three candidate genes, fibroblast growth factor 1 (FGF1), fibrillin 2 (FBN2), and lysyl oxidase gene (LOX) lie, and evaluate associations with IA. Genomic DNAs were obtained from 172 IA patients and 192 controls. Association analysis was performed with ten, five, and four single-nucleotide polymorphisms (SNPs) identified in FGF1, FBN2, and LOX, respectively. A difference in allelic frequency was observed for only the SNP at intron 4 in FGF1 (χ²=4.44, df=1, P=0.035). Although a haplotype association was observed with the combination of ten SNPs in FGF1 (χ²=16.04, df=1, P=0.00006), significant haplotype associations were not observed when haplotypes were constructed with the three, two, and four SNPs in FGF1 according to the linkage disequilibrium structure. No associations of FBN2 and LOX with IA were detected in the present study.     

The alanine/threonine polymorphism of the alpha-1-antichymotrypsin (SERPINA3) gene and ruptured intracranial aneurysms in the Japanese population

BACKGROUND: Serine protease inhibitor member 3 of clade A (SERPINA3), also known as alpha-1-antichymotrypsin, inhibits the activity of cathepsin G. The release of neutrophil cathepsin G (proteolytic enzyme) can destroy the vascular matrix through degradation, platelet aggregation and coagulation disorders. In a previous report there was evidence that an alanine/threonine polymorphism was associated with the risk factor for aneurysmal subarachnoid hemorrhage (SAH) in a Polish population. We performed this study to determine whether this A15T polymorphism shows the same association in a Japanese population. METHODS: A total of 437 patients with an aneurysmal SAH and 405 control cases of Japanese origin were genotyped for the A15T polymorphism and 2 further intronic single nucleotide polymorphisms by using polymerase chain reaction and direct sequencing. RESULTS: In the patients with intracranial aneurysms the SERPINA3 A15T allele and genotype distribution did not differ significantly from the controls. CONCLUSION: In the Japanese population the A15T polymorphism of the SERPINA3 gene is not associated with aneurysmal SAH.     

Information guided technology and procedure in neurosurgical field

Translational Research is the research to apply and mediate a fundamental research result to the clinical field effectively. The integration of the diagnosis and the treatment is an important item in the life science field from the viewpoint of quality of therapy and minimally invasive therapy. The standardization of mechanical interface of the medicine related machine, system and a medical information system are important from the viewpoint such as prevention of medical malpractice. A high function operating robot (manipulator) as an endoscopic robot and image-guided minimally invasive device are important in the point of view of the development of a medical device shown with a medical device industry vision. We describe an outline of our ongoing development of endoscope system, intraoperative MRI (intelligent operating theater) and robot surgery system in neurosurgical field.     

Selective subtemporal amygdalohippocampectomy for refractory temporal lobe epilepsy: operative and neuropsychological outcomes

OBJECT: The authors evaluated operative, neuropathological, and neuropsychological results after selective subtemporal amygdalohippocampectomy for refractory temporal lobe epilepsy in patients who were observed for at least 2 years after surgery. METHODS: Twenty-six consecutive patients underwent selective subtemporal amygdalohippocampectomy for nonlesional, medically refractory temporal lobe epilepsy. Neuropsychological evaluation using the Wechsler Adult Intelligence Scale was done before surgery in all patients, 2 months after surgery in 24 patients, and at 2-year follow up in 19 patients. A verbal paired associates learning test was administered before surgery and 2 months after surgery in 19 patients. The data were compared between the 13 patients in whom the language-dominant hemisphere was surgically treated and the six patients in whom the language-nondominant hemisphere was treated. After surgery, 84% of the patients attained either Engel Class I or II seizure outcome. There were no permanent subjective complications except postoperative memory impairment in one patient. Neuropathological examination confirmed hippocampal sclerosis in 19 patients. No significant differences in IQ and verbal memory test scores were observed between the patients in whom the language-dominant hemisphere was treated and those in whom the language-nondominant hemisphere was treated. Significant postoperative increases in verbal IQ, performance IQ, and full-scale IQ were observed over time. No significant differences were found between pre- and postoperative verbal memory test scores, and no subjective visual field loss was marked in any patient. CONCLUSIONS: Subtemporal selective amygdalohippocampectomy provides favorable surgical and neuropsychological outcomes and does not cause significant postoperative decline of verbal memory if performed on the language-dominant side.     

A juvenile case of Cushing's disease incidentally discovered with multiple bone fractures

A 19-year-old woman who had decreased eight centimeters in stature was diagnosed as Cushing's disease with multiple spine compression fractures. At the age of 18, the patient had a complex fracture and gradually presented the features of Cushing's syndrome. Her plasma ACTH and cortisol levels were extremely high. Radiological findings and chemical markers for bone metabolism showed severe osteoporosis. Magnetic resonance imaging showed the presence of a pituitary microadenoma. After transsphenoidal surgery was performed, subsequently all endocrine data improved. This case indicates that Cushing's syndrome should be considered for severe osteoporotic juvenile patients.     

Adult‐onset angiocentric glioma of epithelioid cell‐predominant type of the mesial temporal lobe suggestive of a rare but distinct clinicopathological subset within a spectrum of angiocentric cortical ependymal tumors

Angiocentric glioma (AG) is defined as an epilepsy‐associated stable or slowly growing cerebral tumor primarily affecting children and young adults, histologically consisting mainly of monomorphic, bipolar spindle‐shaped cells and occasional round to monopolar columnar epithelioid cells, showing angiocentric growth pattern and features of ependymal differentiation. We describe two clinicopathologically unusual cases of AG. Case 1 is a 54‐year‐old woman with a 10‐year history of complex partial seizures. MRI revealed non‐enhancing T1‐low, T2/fluid‐attenuated inversion recovery (FLAIR)‐high intensity signal change in the left hippocampus and amygdala. After selective amygdalohippocampectomy, she had rare non‐disabling seizures on medication for over 50 months (Engel's class I). Case 2 is a 37‐year‐old man with a 3‐year history of complex partial seizures. MRI revealed non‐enhancing T1‐low, T2/FLAIR‐high intensity signal change in the left uncus and amygdala. After combined amygdalohippocampectomy and anterior temporal lobectomy, he has been seizure‐free for over 11 months. Histologically the tumors in both cases consisted mainly of infiltrating epithelioid cells (GFAP– ～ ± , S‐100‐) with perinuclear epithelial membrane antigen (EMA)‐positive dots and rings, showing conspicuous single‐ and multi‐layered angiocentric arrangements. Occasional tumor cells showed spindle‐shaped morphology (GFAP+, S‐100+) with rare EMA‐positive dots aligned radially and longitudinally along parenchymal blood vessels. Focal solid areas showed a Schwannoma‐like fascicular arrangement with rare EMA‐positive dots and/or sheets of epithelioid cells with abundant EMA dots. Electron microscopic investigation demonstrated features of ependymal differentiation. These cases, together with a few similar cases previously reported, appear to represent a rare but distinct clinicopathological subset of AG characterized by adult‐onset, mesial temporal lobe localization and epithelioid cell‐predominant histology.