Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles)

GNE myopathy is a rare and mildly progressive autosomal recessive myopathy caused by GNE mutations. Respiratory dysfunction has not been reported in GNE myopathy patients. In this study, we retrospectively reviewed the respiratory function of 39 severely affected GNE myopathy patients (13 men, 26 women) from medical records, and compared these parameters with various other patient characteristics (e.g., GNE mutations, age at onset, creatine kinase levels, and being wheelchair-bound) for correlations. The mean % forced vital capacity [FVC] was 92 (26) (range, 16–128). In 12/39 (31%) patients, %FVC was <80%. Of these 12 patients, 11 (92%) were entirely wheelchair-dependent. These patients exhibited significantly earlier onset (20 [4] vs. 30 [8] years, p < 0.001) and lower creatine kinase levels (56 [71] vs. 279 [185] IU/L) than patients with normal respiratory function. Two patients exhibited severe respiratory failure and required non-invasive positive pressure ventilation. Patients with a homozygous mutation in the N-acetylmannosamine kinase domain exhibited lower %FVC, while only one compound heterozygous patient with separate mutations in the uridinediphosphate-N-acetylglucosamine 2-epimerase and the N-acetylmannosamine kinase domains had respiratory dysfunction. Our results collectively suggest that GNE myopathy can cause severe respiratory failure. Respiratory dysfunction should be carefully monitored in patients with advanced GNE myopathy characterized by early onset and homozygous homozygous mutations in the N-acetylmannosamine kinase domain.     

Evaluation of radiation therapy for keloid using electron beam

In radiation therapy for keloid, electron beams are delivered to the skin through a lead shield hollowed into the shape of the keloid. The shape of a postoperative keloid scar is linear, causing the irradiation shield to be long and narrow. This lead shield is put on the surface of the skin. Therefore, it is considered that beam data used in general external irradiation are not applicable to irradiation for keloid. Therefore, we used a water equivalent phantom and measured beam data by using chambers or film dosimeters. Experimental conditions were the same as those of actual radiotherapy for keloid. As a result of this procedure, the radiation technique was optimized. Electron energy and thickness of the bolus, thickness of the lead shield, margins such that the planning target volume would receive the necessary dose, and the method of MU calculation all were determined. It was suggested that these experiments were useful to establish the appropriate technique in irradiation for keloid.     

Establishment of the optimal follow-up schedule after radical prostatectomy

Purpose

Monitoring the serum level of prostate specific antigen (PSA) is indispensable for surveillance after radical therapy, and the aim of this study was to establish the optimal follow-up schedule.

Successful laparoscopic-assisted hemostasis of intrathoracic massive vericeal rupture during living related liver transplantation: a case report

End-stage liver disease that requires transplantation is usually accompained by esophagogastric or another collateral vessel varices. Sometimes, the esophagogastric varices rupture intraoperatively during liver transplantation. However we have reported rare case of rupture of an intercostal varicose vein, which was controlled successfully by flexible laparoscopy. The patient was a 62-year-old man, who suffered decompensated liver cirrhosis with hepatocellular carcinoma. The Child-Pugh score was 11 and the Model for End-stage Liver Diseases score was 14. Preoperative gastrointestinal fiberscopy and colon fiberscopy examinations revealed esophagogastric and rectal varices. He underwent living related liver transplantation from his son on February 10, 2010. Just after the liver transplantation, the patient's blood pressure tended to decrease. Chest radiography demonstrated a massive right pleural effusion. We drained 3000 mL of blood by thoracic puncture. Therefore we reoperated him for the question an intrathoracic variceal hemorrhage. We confirmed variceal bleeding after removal of the massive hematoma by opening the diaphragm. However, we could neigher show directly the bleeding point in the anterior thorax nor stop it because of the constriction of the diaphragm. Therefore we used a flexible laparoscope to both confirm the bleeding point and to achieve hemostasis. We believe that theoperative compression of the intercostal varicose vein by a retractor induced the vascular rupture.     

Predictive coding and pitch processing in the auditory cortex

In this work, we show that electrophysiological responses during pitch perception are best explained by distributed activity in a hierarchy of cortical sources and, crucially, that the effective connectivity between these sources is modulated with pitch strength. Local field potentials were recorded in two subjects from primary auditory cortex and adjacent auditory cortical areas along the axis of Heschl's gyrus (HG) while they listened to stimuli of varying pitch strength. Dynamic causal modeling was used to compare system architectures that might explain the recorded activity. The data show that representation of pitch requires an interaction between nonprimary and primary auditory cortex along HG that is consistent with the principle of predictive coding.     

Characterization of the receptors for peptide-YY and avian pancreatic polypeptide in chicken and pig brains

We have previously identified the peptide-YY (PYY) receptor on porcine brain membranes as a 50-kDa protein after chemical cross-linking. PYY receptors are discretely distributed in the brain of various mammals, to which neuropeptide-Y (NPY), but not pancreatic polypeptide (PP), bind with great specificity. The present study was carried out in order 1) to identify and characterize the PYY receptor in the avian brain, 2) to compare it with the APP receptor that had been demonstrated in the cerebellum, and 3) to examine [125I]APP-binding activity in the porcine brain. [125I]PYY was bound to chicken brain membranes via high affinity (Kd = 2.19 x 10(-10) M) and low affinity (Kd = 1.93 x 10(-7) M) components. The binding sites were highly specific for PYY and APP as well as for NPY and PPP, coupled to a guanine nucleotide regulatory protein, and distributed in various brain areas, including the cerebellum. The C-terminal fragments of PYY, PYY-(17-36) and PYY-(24-36), exhibited low potency in inhibiting binding, but behaved like full agonists. Porcine brain membranes, on the other hand, possessed two orders of the APP-binding sites, a high affinity component (Kd = 4.24 x 10(-9) M) and a low affinity component (Kd = 3.08 x 10(-7) M). APP binding showed a high specificity for APP, but not for PPP, NPY, or PYY. The binding activity was highest in the pituitary gland, followed by the hippocampus, amygdala, cerebral cortex, hypothalamus, and cerebellum. Guanosine 5'-O-thiotriphosphate, a nonhydrolyzable GTP analog, did not inhibit the binding of [125I]APP to porcine or chicken brain membranes, which ran counter to the results of PYY receptors in both species. Cross-linking studies have demonstrated that receptor-bound [125I]APP is cross-linked to a protein of 67 kDa without disulfide-linked subunits in both porcine and chicken brain membranes. In the latter species, [125I]PYY and [125I]NPY were also cross-linked to the same 67-kDa proteins, which were different from the receptor proteins (50 kDa) in mammalian species. These results indicate that chicken brain has receptors specific for PYY and NPY, as was found in mammalian brains, and that PYY, NPY, and PP act in the brain through interaction at multiple receptor sites, which are similar to and shared by other members of the PP family. Furthermore, the finding that APP-binding sites in porcine brain are more specific than those in avian brain suggests that an endogenous peptide similar to APP may exist in porcine brain.     

The Bakri balloon for the management of postpartum hemorrhage in cases with placenta previa

Objective

To evaluate the success rate of the Bakri balloon in the event of uncontrollable hemorrhage due to placenta previa.

Study design

We evaluated 25 patients who were treated with the Bakri balloon who had severe postpartum hemorrhage with placenta previa and failed medical treatment with uterotonic agents.

Results

The Bakri balloon was inserted abdominally during cesarean section in 24 of 25 cases. In only one case was it inserted vaginally. The Bakri tamponade was effective in 22 cases (88%). There were three cases with failure: two patients needed an additional procedure (hypogastric artery ligation and B-Lynch suture) and one patient needed hysterectomy.

Conclusions

The Bakri balloon is the least invasive, rapid method in the management of bleeding due to placenta previa with minimal complications.     

Bullous pemphigoid in patients receiving peritoneal dialysis: a case series and a literature survey

Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease. Although several cases of BP in end-stage renal disease patients receiving peritoneal dialysis (PD) or hemodialysis have been reported, the incidence of BP in these patients remains unknown. We recently experienced three PD patients diagnosed with BP. The skin injury was likely to be a trigger of BP in all the three PD patients. Nifedipine and icodextrin exposures were possible factors directly or indirectly affecting the onset of BP, because they were common in the three cases. We also report that the incidence of BP in PD patients was 3/478.3 person-years in a single-center 10-year study. This case series with a literature survey describes that the skin and tissue injuries are potential triggers responsible for the onset of BP in dialysis patients and that the incidence of BP in these patients seems to be much higher than that in the general population.     

Pattern electroretinography and visual evoked potentials in optic nerve diseases.

BACKGROUND: To evaluate transient pattern electroretinography (PERG) and pattern visual evoked potential (VEP) for the diagnosis, differential diagnosis and follow-up of optic nerve diseases. METHODS: Twenty-nine consecutive patients (14 female, 15 male) with the diagnosis of ischaemic optic neuropathy (n=14) and optic neuritis (n=15) were included in this study. Mean age of the patients with ischaemic optic neuropathy was 63.3+/-3.3 (60-78) years and the mean age of the patients with optic neuritis was 28.3+/-8.4 (19-43) years. In each patient ophthalmological examination and systemic evaluation were done and VEP and PERG were recorded. As a control group, VEP recordings of 35 healthy subjects were included. RESULTS: In the ischaemic optic neuropathy group (group 1), mean VEP amplitude (+/-SD) (1.96+/-0.95 microV) was found to be decreased significantly in the affected eyes in comparison to the control group and the unaffected eyes. The delay in latency (116.3+/-20.14 msec in the affected eyes compared with 101.31+/-6.19 msec in unaffected eyes) was statistically significant when compared with the healthy subjects. In the optic neuritis group (group 2), VEP amplitude was decreased (4.13+/-4.04 microV vs 6.97+/-3.35 microV and 6.97+/-4.43 microV) and latency was increased (122.59+/-20.09 msec vs 101.31+/-6.19 msec and 108.76+/-13.57 msec) in affected eyes significantly in comparison to the unaffected eyes and control group, respectively. Even though there were no significant differences for P50 latency and N95/P50 ratios between affected and unaffected eyes in both groups, N95 amplitude decreased significantly in the affected eyes of the ischaemic optic neuropathy patients and N95 latency was found to be decreased in optic neuritis patients. There was no correlation between VEP and PERG findings in both groups. CONCLUSION: VEP amplitude decreased significantly in ischaemic optic neuropathies while latency delay was more significant in patients with optic neuritis. PERG findings showed decreased N95 amplitude in ischemic optic neuropathy without associated latency changes.