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Biomedical subjects

J H Austin

Publications and source records attributed to J H Austin.

At least 73 records · Page 4Linked to original sources

Studies in metachromatic leukodystrophy: XV. Purification of normal and mutant arylsulfatase A from human liver.

In this report we describe a method to purify both normal and abnormal (inactive) arylsulfatase A. The abnormal enzyme protein was isolated both from cases of late infantile and early juvenile forms of metachromatic leukodystrophy. Conventional protein isolation methods reported earlier were followed by size exclusion high-performance liquid chromatography in the final purification stages. Both the mutant enzyme and the normal enzyme had the same HPLC elution behavior. They thus appeared to self-associate in a similar pH-dependent fashion. Both could be followed by their reaction to a rabbit antibody to normal human arylsulfatase A. The amount of homogenous protein obtained from about 500 grams of liver was 300-400 micrograms.

Cerebroside-Sulfatase↗

Clinical clues to the cause of Addison's disease.

Tuberculosis and other potentially treatable diseases remain important causes of adrenal insufficiency. Knowledge of the cause of adrenal destruction, although often difficult to ascertain clinically, is necessary for appropriate management. Clinical data are reviewed in eight patients with Addison's disease who underwent computed tomographic scanning and in 31 additional patients with Addison's disease in whom autopsy was performed. Seven of eight patients (87 percent) with tuberculous Addison's disease of no greater than two years' duration had enlarged glands whereas patients with longer duration of disease had smaller or normal-sized glands. Adrenal enlargement was also found in five of six (87 percent) subjects with carcinomatous replacement of the adrenal glands. The adrenal glands were small or undetectable in each of 16 patients with idiopathic Addison's disease. Adrenal calcification was found in nine of 17 (53 percent) tuberculous patients and was not found in any of the 22 other patients. Duration of adrenal disease, adrenal size on computed tomographic scanning, and presence of adrenal calcification were useful clues to the cause of Addison's disease.

Addison Disease↗

Radiolucent intratracheal foreign body mistaken for croup in a 9-year-old boy.

Stridor was present for at least three months in a 9-year-old boy whose cervical trachea contained granulation tissue in association with a chronically enlodged plastic wheel, 1.8 cm in diameter. Roentgenograms revealed irregularly lobulated narrowing of the cervical trachea. Our clinical impression was croup until bronchoscopic examination led to removal of the toy. We could elicit no history of aspiration. Chronic stridor in association with a radiolucent intratracheal foreign body is unusual in the absence of a history of aspiration.

Bronchoscopy↗

The lateral chest radiograph in the assessment of nonpulmonary health and disease.

The lateral chest radiograph contains a wealth of data on the status of the thoracic cage, pleura, heart, pericardium, bronchi, and upper abdomen. The appearances of slightly oblique projections deviating from the "true" lateral projection are reviewed. Careful attention to these common variations of projection is advocated.

Adult↗

Training of trainers.

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Administrative Personnel↗

Thickening of the posterior wall of the bronchus intermedius. A sign on lateral radiographs of congestive heart failure, lymph node enlargement, and neoplastic infiltration.

The posterior wall of the bronchus intermedius (PWBI) is outlined on most lateral chest radiographs by air in the lumen and in adjacent lung. In a prospective review over a 19-month interval, the authors found 36 patients whose PWBI was thick, defined as thickness greater than the normal upper limit of 3.0 mm (33 patients) or as increase of 1.5 mm in thickness compared with control radiographs (three patients). Uniform thickening was found in 23 patients as a sign of congestive heart failure. Nine subjects with neoplastic thickening of the PWBI demonstrated either uniform (six patients) or lobulated (three patients) enlargement. Two patients with sarcoidosis showed lobulated thickening of the PWBI. Inspection of lateral chest radiographs for thickening of the PWBI may be helpful in establishing bronchial involvement by edema, neoplasm, or enlarged lymph nodes.

Aged↗

Normal azygos arch: retrotracheal visualization on frontal chest tomograms.

Anteroposterior, linear tomograms of 78 adult subjects in the supine position revealed visualization of pleural reflections off the retrotracheal part of the normal azygos arch in 38 (49%). The course of the arch varied by about 3 cm. Five distinct patterns were found, mainly depending on the course of the inferior margin of the arch. The inferior margin varied from relatively superior retrotracheal positions to intermediate positions appearing to intersect the carina, to relatively inferior and right-sided positions posterior to the proximal right main bronchus. Recognition of these normal variations of the azygos arch should serve to differentiate them from abnormalities in this region.

Adolescent↗

Separation of human and Chinese hamster arylsulfatases A and B by two-directional polyacrylamide gel electrophoresis.

Two-directional or 'mirrow' polyacrylamide gel electrophoresis permits one simultaneously to separate and detect human and Chinese hamster arylsulfatases A and B. Such a separation was not possible in conventional one-dimensional polyacrylamide gel systems. The amount of each enzyme present could be quantitated by scanning at 515 nm after incubation of the gel in nitrocatechol sulfate. Direct comparisons showed that this system is at least as sensitive as a cellogel-methylumbelliferone sulfate method. Some advantages of the polyacrylamide method are described.

Animals↗

Studies in metachromatic leukodystrophy. XIV. Purification and subunit structure of human liver arylsulfatase A.

Arylsulfatase A was purified to apparent homogeneity from normal human livers obtained at autopsy. According to gel electrophoresis in sodium dodecyl sulfate, purified arylsulfatase A consistently contained two subunits of slightly different sizes: approximately 69 000 and 57 000 daltons, but were not present in stoichiometrically equal amounts. Peptide maps of the entire enzyme and of the two individual subunits showed that the two polypeptides share similar if not identical sequences. These observations raise the possibility that the smaller polypeptide might be derived from the larger one. The sensitive peptide mapping procedures employed will make feasible future studies with the abnormal enzyme found in metachromatic leukodystrophy.

Amino Acids↗

Increased aneuploidy in Alzheimer disease.

The purpose of this study was to determine if cytogenetic changes are present in Alzheimer disease, one of the presenile dementias. The chromosomes of three groups of people were studied: 1) sporadic cases of Alzheimer disease (eight cases), 2) familial cases of Alzheimer disease with affected individuals in at least two generations of their families (five cases), and 3) currently unaffected siblings of the affected individuals in these families (nine cases). One hundred cells per individual were examined using GTG banding to allow chromosome identification. A statistically significant increase in aneuploidy was found in five of eight patients in group 1 (P less than 0.05) and in each of five patients in group 2 (P less than 0.001) when compared with the rate of aneuploidy in age- and sex-matched controls. In addition, two individuals in group 3 exhibited a significant increase in aneuploidy over the control group, raising the possibility that finding increased aneuploidy may allow one to anticipate the clinical expression of the disease state.

Aged↗

Spontaneous regression of a pulmonary metastasis after nephrectomy for renal cell carcinoma.

Regressions of metastases following nephrectomy for renal cell carcinoma are rare. Most reported cases have involved pulmonary metastases. Hormonal and immunological mechanisms have been postulated. A case is described of a pulmonary metastasis which regressed after nephrectomy and which failed to recur despite the later appearance of new sites of pulmonary metastases. The literature is reviewed.

Adenocarcinoma↗

The varieties of chance in scientific research.

Four kinds of luck can be defined --- one that is pure "blind" luck, and three others that are influenced to some degree by certain behavioral characteristics. The term, altamirage is introduced to call attention to that special personal quality by which good luck is prompted as a result of personally distinctive actions (Chance IV). In contrast, serendipity involves finding valuable things as a result of happy accidents (Chance I), general exploratory behaviour (Chance II), or saga-city (Chance III). The most novel scientific discoveries occur when several varities of chance coincide.

Creativity↗