Increased unfolded protein responses caused by MED17 mutations

neurogenetics - Mediator (MED) is a key regulator of protein-coding gene expression, and mutations in MED subunits are associated with a broad spectrum of diseases. Because mutations in MED17...     

Japanese Versus Non-Japanese Patients with Transient Ischemic Attack or Minor Stroke: Subanalysis of TIA registry.org

BackgroundTIAregistry.org is an international cohort of patients with transient ischemic attack (TIA) or minor stroke within 7 days before enrollment in the registry. Main analyses of 1-year follow-up data have been reported.⁵ We conducted subanalysis on the baseline and 1-year follow-up data of Japanese patients.MethodsThe patients were classified into 2 groups based on Japanese ethnicity, Japanese (345) and non-Japanese (3238), and their baseline data and 1-year event rates were compared. We also determined risk factors and predictors of 1-year stroke.ResultsCurrent smoking, regular alcohol drinking, intracranial arterial stenosis, and small vessel occlusion; and hypertension, dyslipidemia, coronary artery disease, and extracranial arterial stenosis were more and less common among Japanese patients, respectively. Stroke risk was higher and TIA risk was lower at 1-year follow-up among Japanese patients. The baseline risk factors for recurrent stroke were diabetes, alcohol drinking, and large artery atherosclerosis. Independent predictors of 1-year stroke risk were prior congestive heart failure and alcohol consumption.ConclusionsThe two populations of patients featured differences in risk factors, stroke subtypes, and outcome events. Predictors of recurrent stroke among Japanese patients included congestive heart failure and regular alcohol drinking. Strategies to attenuate residual risk of stroke aside from adherence to current guidelines should take our Japanese-patient specific findings into account.     

Bronchial venous plexus and its communication with pulmonary circulation

This study was undertaken to clarify the microvascular anatomy of the normal human bronchial circulation, focusing on the bronchial venous system and its communication with the pulmonary circulation. Ten normal lungs obtained at autopsy were studied. Bronchial arteriography was performed in six lungs, pulmonary arteriography in two lungs, and pulmonary venography in another two. Using radiologic methods, including microradiography, and serial histologic sections, we found numerous bronchial venous plexuses around the airways and blood vessels into which the bronchial capillaries drained. Frequent communications of the venous plexuses with the pulmonary veins and neighboring alveolar capillaries were also demonstrated. The bronchial venous plexus and its close connection with the pulmonary circulation may be important in various pathologic conditions involving the interstitial space, such as interstitial pulmonary edema.     

Ascending contraction and descending relaxation in the distal colon of mice lacking interstitial cells of Cajal.

Recently an essential role of interstitial cells of Cajal (ICC) within myenteric plexus (ICC-MY) was suggested in ascending contraction and descending relaxation in the mouse ileum. The role of ICC in these neural reflexes was examined in the distal colonic segments prepared from the wild type and c-kit mutant, W/W(V) mice, in the present study. Localized distension of the segments from the wild type mice by using a small balloon resulted in ascending contraction and descending relaxation. In the segments from the mutant mice, localized distension also induced these neural reflexes similar to those observed in the wild type mice. Immunohistochemical examination demonstrated that ICC-MY and ICC present in muscle layers (ICC-IM) were severely disrupted in the mutant mouse, but only ICC, present within submucosal plexus (ICC-SMP), remained unchanged. In the small strips with ICC-SMP absent prepared from the mutant mouse, electrical field stimulation induced contraction or relaxation in the absence or presence of atropine, respectively. It was suggested that ICC have no important role in the ascending and descending neural reflexes in the mouse distal colon, this is in direct contrast to the role of ICC-MY in the ileum.     

Minimum incision endoscopic nephrectomy for giant hydronephrosis

Five consecutive patients with symptomatic giant hydronephrosis underwent minimum incision endoscopic nephrectomy. The originally huge renal specimen was retroperitoneally mobilized using both of endoscopy and direct vision, without the use of trocar ports or gas insufflation, via a single minimum incision that narrowly permitted extraction of the specimen. The specimen was successfully extracted from the incision in all patients. Technically, proper deflation of the hydronephrotic sac facilitates mobilization and enables extraction of the specimen. Median (range) size of incision, operative time, and estimated blood loss were 4 cm (3-5), 205 min (156-222), and 210 mL (110-350), respectively. No patient required blood transfusion or encountered operative complications. Postoperative convalescence was short and uneventful; all patients resumed oral intake and ambulance on the day following surgery, and were physically dischargeable from hospital after 2-3 postoperative days. Thus, this technique is a feasible, minimally invasive and safe procedure for symptomatic giant hydronephrosis.     

Obstinate cough as a sole presenting symptom of non-metastatic renal cell carcinoma

Renal cell carcinoma (RCC) causes many kinds of symptoms such as hypercalcemia, hypertension, polycythemia and fever. Here we describe a rare case of RCC presenting with a persistent cough. After radical nephrectomy, the obstinate cough disappeared. When the tumor recurred locally, the cough also recurred. Furthermore, the cough disappeared completely again after the removal of the recurrent tumor. Although all the clinical findings suggested that the RCC caused the cough, we could not identify a specific humoral substance responsible for the cough.     

Sequential bilateral minimum incision endoscopic radical nephrectomy in dialysis patients with bilateral renal cell carcinomas

Since 1998, we have performed minimum incision endoscopic surgery (MIES) for renal cell carcinoma (RCC). For seven dialysis patients with bilateral RCC, we have performed sequential bilateral MIES radical nephrectomy. It was carried out by retroperitoneal approach through a single minimum incision that narrowly permitted extraction of the specimen using endoscopy and direct stereovision, without trocar ports, without gas insufflation and without the insertion of the hands of operators into the operative field. Although six of the seven patients had multiple complications in addition to chronic renal failure (CRF), bilateral kidneys were successfully removed by sequential MIES radical nephrectomy without major operative complication. Postoperative recovery was prompt with all patients resuming oral feeding and walking by the second postoperative day. Sequential bilateral MIES radical nephrectomy, leaving the peritoneal cavity intact and without imposing circulatory stress caused by gas insufflation, is a feasible treatment for bilateral RCCs in dialysis patients.     

Invasion of the intracranial space by a malignant odontogenic mixed tumor: Report of a case

A case of an odontogenic tumor which invaded the intracranial space from the mandible is reported. Judging from the radiographic images it was similar to a malignant tumor. The patient died 17 years after the first visit. According to the final pathological diagnosis, it was malignant odontogenic mixed tumor of low grade which did not belong to any of the WHO classification.