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The morphology of the Golgi complex is influenced by the cellular context, which strictly correlates with nuclear functions; however, the mechanism underlying this association remains elusive. The inner nuclear membrane SUN proteins, SUN1 and SUN2, have diverse functions together with the outer nuclear membrane nesprin proteins, which comprise the LINC complex. We found that depletion of SUN1 leads to Golgi complex dispersion with maintenance of ministacks and retained function for vesicle transport through the Golgi complex. In addition, SUN2 associates with microtubule plus-end-directed motor KIF20A, possibly via nesprin-2. KIF20A plays a role in the Golgi dispersion in conjunction with the SUN2-nesprin-2 LINC complex in SUN1-depleted cells, suggesting that SUN1 suppresses the function of the SUN2-nesprin-2 LINC complex under a steady-state condition. Further, SUN1-knockout mice, which show impaired cerebellar development and cerebellar ataxia, presented altered Golgi morphology in Purkinje cells. These findings revealed a regulation of the Golgi organization by the LINC complex.

We report the histopathologic findings of 3 sural nerve biopsies and 1 muscle biopsy from 3 patients with Rett syndrome. The 3 sural nerve biopsies demonstrated a few ultrastructural abnormalities, including the presence of many Pi-granules and mitochondrial changes in the cytoplasm of Schwann cells, occasional bands of Bungner and onion-bulb formations, and mitochondrial alterations in myelinated axons. Morphometric analysis disclosed reduction in the number of large myelinated fibers with normal densities in comparison to those of an age-matched normal control. Light microscopic examination of the biopsied muscle from a 6-year-old patient with Rett syndrome revealed the existence of many small, dark, angulated fibers with NADH-TR staining. Ultrastructural investigation of the muscle confirmed the presence of the dumbbellshaped mitochondria. Peripheral nerve involvement and the possibility of mitochondrial abnormalities in Rett syndrome were suggested by the results.

Using the latencies of M and F responses, we assessed motor nerve conduction velocity along the entire course of the median and ulnar nerves from the spinal cord to the muscle in 14 patients with the less severe forms of Werdnig-Hoffmann disease. In these forms, the motor nerve conduction velocities were decreased significantly over both proximal (cord-to-elbow) and distal (elbow-to-wrist) segments in both the nerves as compared with normal values; however, the mean motor nerve conduction velocities in the proximal segments were faster than those in the distal segments by about the same amount as the normal controls. These findings indicate that motor conduction abnormalities in Werdnig-Hoffmann disease are diffuse over the entire course of the nerve and appear to eliminate a dying-back process in which the affected axons are severely damaged, beginning with the more distal sites.

Five siblings with hereditary spastic paraplegia of autosomal-dominant inheritance were studied with somatosensory evoked potentials. Somatosensory evoked potentials were recorded from Cź, T 12 , and the left popliteal fossa following left posterior tibial nerve stimulation. The latency and amplitude of the corresponding potentials (i.e., P 37 , N 20 , and N 7 ) were compared with normal values obtained from age- and height-matched controls. There was no significant difference in the values of N 7 , suggesting an intact afferent peripheral pathway; in contrast, the amplitudes of P 37 and N 20 were decreased with normal latencies. The degree of amplitude decrease correlated with the severity of vibration sense impairment in the lower limbs. These results appear to support selective axonopathy of the centrally directed axons of the dorsal root ganglion cells. Furthermore, our results suggest that different degrees of dorsal column involvement in hereditary spastic paraplegia can cause different types of somatosensory evoked potential abnormalities, namely, attenuated amplitudes with no latency shifts, as recorded in this family, and the prolonged latencies, as reported previously.

BACKGROUND AND PURPOSE: Retrograde cortical venous drainage (RCVD) is the most major risk factor for aggressive behavior of intracranial dural arteriovenous fistulas (DAVF). The purpose of this study was to assess the efficacy of relative cerebral blood volume (rCBV) map for RCVD in patients with DAVF. METHODS: Ten patients with angiographically proven DAVF with RCVD, 2 reference patients with DAVF without RCVD, and 10 control subjects underwent examinations with dynamic susceptibility contrast (DSC)-MR imaging. Four patients with DAVF with unilateral RCVD were evaluated, before and after treatment. The calculation of mean rCBV ratio was performed on a hemispheric basis. The mean rCBV ratio was defined as the value on one side (higher value side) divided by that on the other side (lower value side). RESULTS: In all patients with DAVF with RCVD, the rCBV map showed an increase in rCBV of the angiographically proved affected hemisphere. In 2 reference patients with DAVF without RCVD and all control subjects, the rCBV map showed no increase of rCBV. The mean rCBV ratio in patients with DAVF with RCVD was significantly higher than that of control subjects (P = .0002). Treatment response for RCVD was indicated by a decrease of CBV on the rCBV map and by a decrease of 22% in the mean rCBV ratio. CONCLUSIONS: Increased rCBV by DSC-MR correlated with RCVD in patients with DVAF. The assessment with rCBV for RCVD may be more quantitative than that with angiogram.

Background: Urolithiasis is a major health problem in the northeast part of Thailand. In this study, we examined the prevalence of renal stone disease and differences of urinary components between stone formers and healthy control subjects in northeastern rural areas of Thailand. Methods: We selected 3 villages in the rural areas of Khon Kaen province in northeast Thailand. Three hundred and sixty-seven persons were asked questions relating to urolithiasis and were examined by abdominal ultrasound (US). We collected a spot urine sample from stone formers and healthy control subjects from each village. Results: Abnormal findings by US were detected in 39 individuals (10.6%), and included 31 individuals with renal calculi (8.4%), 16 with hydronephrosis (4.4%), and 1 individual with a renal cyst (0.3%). This yielded a disease rate of urinary stones in this study of 16.9%. The male/female ratio was 2/1 and the average age of the individuals examined was 40.3 + 13.9 years. However, there was no significant difference between the urinary parameters of stone formers and the healthy control subjects. Conclusion: There was a high incidence of renal stone disease in the northeast part of Thailand, but the tendency for hypocitraturia was only found in stone formers.

A statistic survey was made on the clinical results of living and cadaveric renal transplantations performed at our department between October 1980 and June 1996. A total of 38 patients received 6 living and 32 cadaveric renal transplants. The graft and patient survival rates of a living renal transplantation were 83.3% and 100% at 3 years, respectively. The graft survival rate of cadaveric renal transplantation was 66.3% at 3 years and 56.0% at 5 years. In a cadaveric renal transplantation, patients with episodes of acute rejection within 12 months showed a significantly worse graft survival rate. This clinical parameter seems to be a prognostic factor for a long-term graft survival.