Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Musician's dystonia (MD) affects 1% to 2% of professional musicians and frequently terminates performance careers. It is characterized by loss of voluntary motor control when playing the instrument. Little is known about genetic risk factors, although MD or writer's dystonia (WD) occurs in relatives of 20% of MD patients.

Exome sequencing in a family with restless legs syndrome.

Background: Restless legs syndrome (RLS) has a high familial aggregation. To date, several loci and genetic risk factors have been identified, but no causative gene mutation has been found.

Methods: We evaluated a German family with autosomal dominantly inherited RLS in 7 definitely and 2 possibly affected members by genome-wide linkage analysis and exome sequencing.

Irrigation pressure and vessel injury during microsurgery: a qualitative study.

Irrigation solution is routinely used in microsurgery. While the anticoagulation solution may aid in anastomotic patency, the direct effect of pressure irrigation can have a detrimental effect on the vessel. An experimental study was performed to determine the effect of irrigation pressure on the vessel wall.

Relationship between distention and absorption in rat intestine. I. Effect of luminal volume on the morphology of the absorbing surface.

Previous studies in vivo have suggested that distention of the intestinal lumen may enhance intestinal absorption by augmenting absorptive surface area. The precise anatomic mechanism for this increase in surface area, however, has not been explored in detail. We developed methods for rapidly freezing and fixing intestinal segments in situ in the nondistended or distended state.

Welders' pneumoconiosis: tissue elemental microanalysis by energy dispersive x ray analysis.

Histological examination on lung tissue obtained from 10 symptomatic welders was performed by two certified pathologists without the knowledge of the patients' clinical condition. In all cases, there was some degree of interstitial fibrosis; in five the degree of fibrosis was considered to be moderate to pronounced. The tissue was also analysed by energy dispersive x ray analysis and elemental contents were compared with age matched controls.

Fluctuations of alpha cell calcium, potassium and sodium during amino acid perifusion of rat pancreatic islets.

Perifusion of rat pancreatic islets with a physiologic, 6-mM amino acid mixture resulted in typical acute and second phase glucagon secretion over 30 min. At various intervals, islets were acutely fixed and processed for scanning electron microscopy, identification of alpha cells, and measurements of single alpha cell content of calcium (Ca), potassium (K) and sodium (Na) with energy-dispersive x-ray analysis. Biphasic glucagon secretion was attended by corresponding biphasic Ca accumulation and a reciprocal, biphasic suppression of K content and acute phase suppression of Na in alpha cells.

Morphometric and elemental microanalytical studies of human lung in health and disease.

Current methods for determining the fibrogenicity of substances are based on relatively long term exposures of animals to the substance and the evaluation of morphological changes occurring in the lung. The use of inhalation chambers, which produce a more physiological environment, suffer from the need for particularly long exposure times (1-3 years). The present study describes a technique using scanning electron microscopy, energy dispersive analysis, and a digitiser pad with a computer to evaluate the fibrogenicity of silica in cases of known exposure.

Pneumoconiosis in workers exposed to silicon carbide.

Two men who had been exposed only to silicon carbide for many years in a factory manufacturing refractory bricks developed bilateral reticulonodular densities, as shown on chest radiograms, and complained of dyspnea. An open lung biopsy of one of them showed a large amount of black material in the fibrosed alveolar septums. Studies by X-ray diffraction revealed that the silicon carbide to which they were exposed did not contain quartz; X-ray powder diffraction analysis of the lung tissue revealed at least 6 different silicon carbides, traces of tungsten carbide, and an insignificant amount of quartz.

Value of in situ elemental microanalysis in the histologic diagnosis of silicosis.

Pulmonary specimens obtained from ten normal subjects and 53 patients with various pulmonary diseases were studied with energy-dispersive x-ray analysis. The amount of silicon in the pulmonary tissue was determined and expressed as a silicon/sulfur (Si/S) ratio. This Si/S ratio was below 0.

Tolbutamide perifusion of rat islets. Sequential changes in calcium, phosphorus, sodium, potassium, and chlorine in single beta cells.

Fluctuations of calcium, phosphorus, sodium, potassium, and chlorine in beta cells were followed during rat islet perifusion with tolbutamide and related to insulin secretion. In 24 paired experiments two chambers containing 100 islets were perifused with buffered medium containing 4.2 mM glucose alone or with added tolbutamide (200 micrograms/ml).

Fluctuations of calcium, phosphorus, sodium, potassium, and chlorine in single alpha and beta cells during glucose perifusion of rat islets.

To study the relationship between islet hormonal secretion and intracellular content of five elements, a rat islet perifusion technique was used in 24 paired experiments. Control and experimental chambers each containing 100 islets, received 2.8 and 16.

Tampon-associated vaginal ulcerations.

Colposcopically visible alterations of the vaginal mucosa associated with the use of tampons have been identified. These include mucosal drying, epithelial layering, and microulcerations. The pathophysiology of these transient changes appears to involve fluid transfer with subsequent impairment of intercellular bridges and loss of cell coherence.

Elemental content in alveolar septa in various pneumoconioses.

The elemental content of alveolar septa in various pneumoconioses was examind for a possible relationship to interstitial fibrosis. Silicon content, as well as heavy metal content, were evaluated to deterrmine possible interrelationships between the various inorganic dusts. Silicon levels were determined on the basis of silicon-sulphur ratios to accommodate for differences in tissue mass.

Neonatal cystic choristoma in submandibular salivary gland simulating cystic hygroma.

A congenital cystic malformation occurred in the submandibular salivary gland of a neonate. The embryogenesis and differential diagnosis are discussed. Since it seems to be a product of endodermal heterotopic differentiation or entrapment of foregut epithelial rests in the submandibular gland, it is classified as a cystic choristoma.

A quantitative immunoperoxidase procedure employing energy dispersive x-ray analysis.

A method is described for substituting gold for osmium as a marker in the unlabeled antibody technique. The gold marker can be detected in the light or electron microscope. The gold-labeled reaction product can be detected in lower concentrations than osmium and can be used as the basis for quantitating antigen concentrations in cells and tissues with the scanning electron microscope and energy dispersive x-ray analysis.

Human lymphocyte-tumor cell interaction. A scanning electron microscopy study.

Cells from the metastatic chest wall lesions of a patient with adenocarcinoma of the breast were incubated with autologous lymphocytes. Their interactions were observed in the scanning electron microscope. The lymphocytes first surrounded the cancer cells; cancer cells then were destroyed while the lymphocytes in contact with them lost their microvilli.

Morphologic expression of the interactions of human lymphocytes and Pseudomonas aeruginosa as observed by scanning electron microscopy.

When human lymphocytes and Pseudomonas aeruginosa were incubated together and then observed under the scanning electron microscope, four distinct morphologic observations were made: (1) filopods extending between lymphocytes and bacteria; (2) globular structures bulging out in many of the filopods; (3) filopods connecting lymphocytes to each other in the presence of bacteria; and (4) bacteria adhering to the lymphocytes in areas where decreased numbers of microvilli were present.

Energy dispersive x-ray analysis in the study of pneumoconiosis.

Identification of inorganic substances in the lung is an important step towards the establishment of a cause and effect relationship in the study of pneumoconiosis. The conventional methods for this identification usually require an ashing which makes it difficult to study the localisation of these substances in relation to pathology. A method is described to identify foreign substances in the tissue obtained either on biopsy or autopsy without destroying them.

A diffuse form of pulmonary silicosis in foundry workers.

Pulmonary silicosis usually is characterized by typical hyalinized, concentric nodules as seen under the microscope and in the corresponding roentgenogram. In the case of three foundry workers, lung biopsy specimens contained no nodules. The chest roentgenograms were not suggestive of silicosis.

Reye syndrome. A correlated electron-microscopic, viral, and biochemical observation.

Liver biopsy specimens of two patients with Reye syndrome were examined for ultrastructural features, viral isolation, and urea-cycle enzyme activity. Concurrent presence of herpes-like virus and myxovirus/paramyxovirus was demonstrated by electron microscopy, and viral infections were confirmed by isolation or serologic tests. A concomitant hepatic ornithine transcarbamoylase deficiency was also noted.

Identification of foreign material in lung by energy dispersive x-ray analysis. A new approach to silicosis.

Conventional methods for the detection of foreign material in the lungs are not only difficult but make it impossible to study any relationship between the material and the surrounding tissue. The present study employs energy dispersive x-ray analysis and scanning electron microscopy as the basis of a rapid and accurate method for determining the amount of silicon in the lungs of normal subjects and subjects with silicosis. A statistical evaluation of the data suggests that a silicon/sulfur ratio below 0.

Chronic myopathy associated with coxsackievirus type A9. A combined electron microscopical and viral isolation study.

Virus-like crystalline structures in human skeletal muscles have been observed by many electron microspists, but no viruses have been isolated and identified in such cases. An 11-year-old girl who had had muscular weakness and physical retardation since early infancy died of pneumonia due to atrophy of diaphragmatic and intercostal muscles. Electron microscopy of these muscles revealed a heavy infiltration of picornavirus-like particles that measured 19 to 23 nm in diameter.