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[en] Progressive hemifacial atrophy, also known as Parry-Romberg syndrome, is an uncommon degenerative condition which is poorly defined. It is characterized by a slow and progressive atrophy affecting one side of the face. The onset usually occurs during the first two decades of life. Characteristically, the atrophy progresses slowly for several years, and then it becomes stable. Ophthalmic involvement is common, with progressive enophthalmos which is a frequent finding. Cutaneous pigmentation is common in such conditions, however its extension to the conjunctiva is rarely reported. We report a case of Parry Romberg syndrome with characteristic clinical and radiographic presentation accompanied with rare ocular findings. The clinical features, radiological findings, and differential diagnoses to be considered, and the available treatment options are discussed in this report.
[en] Purpose: To evaluate the effects of bare stents and covered stents on the aortic wall, especially the vasa vasorum. Methods: Eight bare stents and nine covered stents were placed in the infrarenal aorta of nine dogs. The dogs were euthanized at 4-45 weeks after stent placement. The vasa vasorum was evaluated by microstereoscopy with vascular casting, and the histopathology of the aortic wall was examined by light microscopy. Results: In the unstented normal aorta, vasa vasorum nourished the adventitia and the outer media, and the intima and inner media were avascular. In the stented segment, vascular dilatation and proliferation of vasa vasorum, medial atrophy, and intimal hyperplasia were observed, more prominent for covered stents than for bare stents. Conclusion: Intravascular stent placement caused not only medial atrophy and intimal hyperplasia but also proliferation of the vasa vasorum, probably due to hypoxia in the aortic wall
[en] Varicocele is a dilatation of the veins in the pampiniform plexus and manifests as mass-effect, pain, testicular atrophy, or male infertility. Traditionally, surgical treatment has been the mainstay of treatment of varicocele, while interventional treatment, which is endovascular embolization of the testicular vein, has been gaining popularity recently. In this review, diagnosis of the disease, indications and procedure details of interventional treatment, results, and complications are discussed
[en] The diagnosis of carpal tunnel syndrome (CTS) is mainly based on clinical findings and electrodiagnostic tests (EDT). However, EDT results do not support clinical findings in some cases. It has been recently suggested that ultrasonography (US) can be used to diagnose CTS. In this study, we aimed to investigate whether US has a diagnostic value for CTS in patients with negative EDT findings or not. EDT was performed on 319 wrists with clinical CTS findings in electrophysiology laboratory. Median and ulnar nerve conduction velocities were measured in all cases and electromyography was performed in patient with tenar atrophy and having suspicion involvement of brachial plexus as EDT. Fifty-nine wrists with negative EDT (study group) and 30 wrists from 15 healthy individuals (control group) were examined using US. The mean of cross-sectional areas (CSAs) measurements were found 8.83 ± 3.05 mm2 by tracing method (TM) and 8.51 ± 3.13 mm2 by ellipsoid formula (EF) in study group, and 7.63 ± 1.52 mm2 by TM and 7.66 ± 1.42 mm2 by EF in control group. The differences between study group and control group according to both TM and EF were significant (t-test p = 0.0079, p = 0.0460, respectively). In study group, CSAs were larger than 10.5 mm2 in 18 (30.51%) and 16 (27.12%) wrists according to TM and EF findings, respectively, and in only one wrist (3.33%) in control group by both TM and EF. The differences of ultrasonographic CTS numbers between study group and control group were significant (p = 0.0024 by TM, p = 0.0086 by EF). We confirmed the usefulness of quantitative US assessment in the diagnosis of CTS in the patients with negative EDT findings. If EDT findings are inadequate to confirm the CTS in the patients with clinical CTS, US studies may be helpful to diagnose
[en] Activated inhibitor of nuclear factor-κB kinase β (IKKβ) is necessary and sufficient for denervated skeletal muscle atrophy. Although several studies have shown that Mg"2"+/Mn"2"+-dependent protein phosphatase 1B (PPM1B) inactivated IKKβ, few studies have investigated the role of PPM1B in denervated skeletal muscle. In this study, we aim to explore the expression and significance of PPM1B and phosphorylated IKKβ (P-IKKβ) during atrophy of the denervated gastrocnemius. Thirty young adult female Wistar rats were subjected to right sciatic nerve transection and were sacrificed at 0 (control), 2, 7, 14, and 28 days after denervation surgery. The gastrocnemius was removed from both the denervated and the contralateral limb. The muscle wet weight ratio was calculated as the ratio of the wet weight of the denervated gastrocnemius to that of the contralateral gastrocnemius. RT-PCR and Western blot analysis showed that mRNA and protein levels of PPM1B were significantly lower than those of the control group at different times after the initiation of denervation, while P-IKKβ showed the opposite trends. PPM1B protein expression persistently decreased while P-IKKβ expression persistently increased for 28 days after denervation. PPM1B expression correlated negatively with P-IKKβ expression by the Spearman test, whereas decreasing PPM1B expression correlated positively with the muscle wet weight ratio. The expression levels of PPM1B and P-IKKβ were closely associated with atrophy in skeletal denervated muscle. These results suggest that PPM1B and P-IKKβ could be markers in skeletal muscle atrophy
[en] It is a case of an eight-year-old patient with cortical dysplasia and gliosis in the left temporal lobe clinically manifested with focal epileptic seizures with secondary generalization. Signs of mental retardation and a number of somatic complications - diabetes, etc., were found. The complex therapy with anticonvulsant medications, immunovenin, plasmaphoresis and anti-diabetic drugs was partially effective
[en] A 12-year-old female presented with complaints of progressive visual impairment in both her eyes. On clinical examination, she was short for her age and her ophthalmoscopic examination revealed bilateral optic atrophy. Computed tomography of the patient revealed multiple expansile lytic lesions of mandible suggesting cherubism. The optic atrophy was confirmed on magnetic resonance imaging, which additionally revealed bilateral retrocerebellar arachnoid cysts. This association of cherubism with optic atrophy and short stature was grouped as orphan disease by National Institutes of Health and only one case was reported in the literature so far.
[en] In idiopathic Parkinson's disease (PD) postganglionic involvement of the autonomic nervous system predominates, whereas in multiple system atrophy (MSA) preganglionic structures are mainly affected. Since cardiac I-123 metaiodobenzylguanidine (MIBG) scintigraphy can assess functional integrity of postganglionic sympathetic neurons, we evaluated its ability to differentiate PD and MSA. Cardiac MIBG scintigraphy was performed on 47 patients (26 PD and 21 MSA; 25 males, 62±9 yr) and 8 normal controls (NC: 3 males, 45±9 yr). All patients were excluded for myocardial ischemia by TI-201 SPECT. MSA patients were predominantly parkinsonism (MSA-p) and cerebellar subtypes (MSA-c) in 11 and 10 cases, respectively. Early (20 min) and delayed (4 hr) images were used to obtain heart/mediastinum count (H/M) ratios and washout rates (WRs). The both early (E) and delayed (D) H/M ratios were significantly decreased in PD (E; 1.54±0.23, D: 1.36±0.24) as well as MSA (E; 1.80±0.44, D; 1.88±0.51) patients compared to NC (E; 2.74±0.97, D; 2.94±1.20) (all p<0.01). The PD group had a significantly lower H/M ratio than the MSA group (E; p = 0.03, D; p = 0.003). The WRs of the PD patients (59.5±15.4%) were significantly increased compared to MSA patients and NC (26.6±23.9% and 19.7±11.5%, both p<0.0001). The WRs between MSA patients and NC were not significantly different. In the differential diagnosis of the PD and MSA, the sensitivity, specificity and accuracy by early H/M ratio (cut-off = 1.80) were 84.6% (22/26), 52.5% (11/21), and 70.2% (33/47), respectively, by delayed H/M ratio, 100.0% (26/26), 66.7% (14/21), and 85.1% (40/47), respectively, and by WR (cut-off 40.0%), 92.3% (24/26), 76.2% (16/21), and 85.1% (40/47), respectively. While the delayed H/M ratios were below 1.80 in 5/11 MSA-p patients, 1 of those 5 MSA-p patients had a decreased WR. Cardiac MIBG scintigraphy was useful for differentiation of PD from MSA and NC by delayed H/M ratio with WR
[en] Many studies of white matter high signal (WMHS) on T2-weighted MRI have disclosed that it is related to cerebral ischaemia and to brain atrophy. Atrophy of the corpus callosum (CC) has also been studied in relation to ischaemia. Our objective was to test the hypothesis that CC atrophy could be due to ischaemia. We therefore assessed CC, WMHS and brain atrophy in patients with risk factors without strokes (the risk factor group) and in those with infarcts (the infarct group), to investigate the relationships between these factors. We studied 30 patients in the infarct group, 14 in the risk factor group, and 29 normal subjects. Using axial T1-weighted MRI, cortical atrophy and ventricular enlargement (brain atrophy) were visually rated. Using axial T2-weighted MRI, WMHS was assessed in three categories: periventricular symmetrical, periventricular asymmetrical and subcortical. Using the mid-sagittal T1-weighted image, the CC was measured in its anterior, posterior, midanterior and midposterior portions. In the normal group, no correlations were noted between parameters. In the infarct group, there were significant correlations between CC and brain atrophy, and between CC atrophy and WMHS. After removing the effects of age, gender and brain atrophy, significant correlations were noted between some CC measures and subcortical WMHS. In the risk factor group, there were significant correlations between CC and brain atrophy and between CC atrophy and WMHS. After allowance for age, gender and brain atrophy, significant correlations between some CC measures and periventricular WMHS remained. The hypothesis that CC atrophy could be due to cerebral ischaemia was supported by other analyses. Namely, for correlations between the extent of infarcts and partial CC atrophy in patients with anterior middle cerebral artery (MCA) and with posterior MCA infarcts, there were significant correlations between the extent of infarct and midanterior CC atrophy in the former, and posterior CC atrophy in the latter. Our findings could indicate that CC atrophy is associated with cerebral ischaemia. (orig.)