Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization

Tay-Sachs disease results from mutation in the gene encoding beta-hexosaminidase A alpha-subunit. Although some reports have suggested the locus on 15q, we tried to determine the finer gene locus using high resolution in situ hybridization. cDNA probe, p beta H alpha-5, containing the full-length sequence for the enzyme subunit, was 3H-labeled within 1-4 x 10(7) cpm/micrograms of cDNA by nick-translation. After molecular hybridization and autoradiography, prometaphases were G-banded by Hoechst 33258, UV-exposure and Giemsa. A total of 227 silver grains on chromosomes within 115 prometaphase spreads were analyzed. The region 15q23-q24 had 27 grains, corresponding to 11.9% of the total grains and to 77.1% of the grains on chromosome 15. 20.9% of prometaphases were observed with a grain at 15q23-q24. According to several previous reports, the shortest region of overlap (SRO) of the locus has been 15q22-q25.1. Here we have assigned the gene locus to the narrower region 15q23-q24 by high-resolution in situ hybridization, which is one of the most powerful strategy for the completion of human gene map.     

Spinal cord injury following aortic arch replacement

Surgery Today - Postoperative spinal cord injury is a devastating complication after aortic arch replacement. The purpose of this study was to determine the predictors of this complication. A group...     

Development of gelatin flakes, a new type of anti-adhesive material: a preliminary study of in vivo rat adhesion models

To overcome the problems associated with sheet- or film-type anti-adhesive materials, we developed a new type of anti-adhesive material, gelatin flakes. We made two types of gelatin flakes with or without thermal cross-linking, and preliminarily examined their basic properties and the anti-adhesive efficacy using a rodent adhesion model. Both types of the gelatin flakes rapidly turned into gel and tightly attached the injured surfaces, absorbing the moisture and blood, when applied onto the abraded sites of rats. In addition, these flakes could be sprayed into the desired area by compressed air through a device with a long, thin tube, which could be used in laparoscopic surgery. The anti-adhesive effects of both types of gelatin flakes were similar, and both types were significantly superior compared to the non-treated group. Although further investigations are necessary, the gelatin flakes have unique and useful properties and satisfactory anti-adhesive effects, which indicate that they may be applicable in laparoscopic surgery.     

Imatinib-induced pancreatic hypertrophy in patients with gastrointestinal stromal tumor: Association with overall survival

ObjectivesTo investigate the frequency of imatinib-induced pancreatic complications and determine whether these are survival prognostic factors in patients with gastrointestinal stromal tumor (GIST).MethodsThis retrospective multicenter study included patients with histopathologically diagnosed GIST treated with imatinib who underwent computed tomography (CT) within 100 days before (pretreatment CT) and 500 days after (post-treatment CT) imatinib initiation (January 2004–December 2019). Forty-eight patients (63.0 ± 12.1 years, 30 men) were included. Two blinded radiologists independently measured pancreatic volumes. Pancreatic volume on pretreatment CT was compared with that of the control (within 1 year prior to pretreatment CT) and the first two post-treatment CTs using paired t-tests. Thresholds for pancreatic hypertrophy and atrophy were defined using a log-rank test. The prognostic importance of pancreatic hypertrophy was further analyzed using multivariate Cox proportional hazard regression models.ResultsPancreatic volume was significantly higher for the first post-treatment CT than pretreatment CT (71.5 cm³ vs. 67.4 cm³, P = .027), whereas no significant difference was observed between the pretreatment and control CTs. Optimal thresholds for pancreatic hypertrophy and atrophy were defined as an 22% increase and 30% decrease and found in 20 and three patients, respectively. Pancreatic hypertrophy was significantly associated with reduced survival [hazard ratio = 2.9 (95% confidence interval, 1.3–6.5), P = .0088]. No patients showed serum lipase elevation, nor were they suspected of having acute pancreatitis.ConclusionThere was frequent asymptomatic pancreatic swelling in patients with GIST after imatinib treatment, and a ≥22% increase in pancreatic volume was a predictor of reduced survival.     

Intractable diffuse pulmonary diseases: Manual for diagnosis and treatment

This manual has been compiled by a joint production committee with the Diffuse Lung Disease Assembly of the Japanese Respiratory Society (JRS) to provide a practical manual for the epidemiology, diagnosis, and treatment of intractable diffuse pulmonary diseases. The contents are based upon the results of research into these diseases by the Diffuse Pulmonary Diseases Study Group (principal researcher: Sakae Homma) supported by the FY2014–FY2016 Health and Labor Sciences Research Grant on Intractable Diseases.This manual focuses on: 1) pulmonary alveolar microlithiasis, 2) bronchiolitis obliterans, and 3) Hermansky-Pudlak Syndrome with interstitial pneumonia. As these are rare/intractable diffuse lung diseases (2 and 3 were first recognized as specified intractable diseases in 2015), there have not been sufficient epidemiological studies made, and there has been little progress in formulating diagnostic criteria and severity scales; however, the results of Japan's first surveys and research into such details are presented herein. In addition, the manual provides treatment guidance and actual cases for each disease, aiming to assist in the establishment of future modalities.The manual was produced with the goal of enabling clinicians specialized in respiratory apparatus to handle these diseases in clinical settings and of further advancing future research and treatment.     

The utility of superb-microvascular imaging for evaluating the full length of carotid artery stents

Transoral carotid ultrasonography (TOCU) is a powerful tool for evaluating internal carotid artery (ICA) lesions located from the carotid bifurcation up to the level of the second cervical vertebra. Superb-microvascular imaging (SMI) is a new Doppler imaging technique whose algorithm analyze tissue movements to minimize motion artifacts by eliminating clutter signals. SMI significantly reduces motion artifacts and allows visualization of low-velocity blood flow even in minute vessels. TOCU with SMI produces clear intraluminal image of the distal extracranial ICA, which is not possible with conventional carotid artery ultrasonography (CUS). CUS with SMI and TOCU with SMI were performed in a patient with a history of carotid artery stenting for symptomatic left ICA stenosis, providing images of the full length of the stents with intimal hyperplasia.     

Monoclonal antibodies to herpes simplex viruses antigens--specificity and utility in rapid serotyping of clinical isolates]

Sixteen hybridomas secreting antibodies to HSV-1 and 22 hybridomas secreting antibodies to HSV-2 were derived from fusion of SP2/0 myeloma cells with spleen cells from BALB/c mice immunized with each respective virus. Four of the former 16 hybridomas and seven of the latter 22 hybridomas were subcloned and injected into pristane-primed mice to obtain high titers of monoclonal antibodies. Antigen specificity of these monoclonal antibodies were determined by the Western blotting (WB) assay. Two out of four monoclonal antibodies that showed selective reactivity for HSV-1 in IFA, reacted with HSV-1 specific proteins; #1 reacted with 100 KD and 70 KD proteins and #4 with a 150 KD protein, respectively, while the remaining two antibodies reacted only with a 50 KD protein that is type-common antigen. On the other hand, two out of seven antibodies which showed selective reactivity for HSV-2 in IFA, reacted with HSV-2 specific proteins: #5 with a 100 KD protein and #10 with three proteins of 30, 25, and 20 KD, and the other two antibodies reacted with a 50 KD protein that is a type-common antigen. The remaining three antibodies, two of which were found to be immunoglobulin type IgM, reacted with neither HSV-1 nor HSV-2 antigens in WB assay. In order to determine their utility in serotyping, 11 monoclonal antibodies were examined by IFA test for reactivity to cells that were infected with 20 HSV-1 or 16 HSV-2 isolates which had been typed by neutralization test.(ABSTRACT TRUNCATED AT 250 WORDS)