Continuing interest in the Franklin expeditions.
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Biomedical subjects
Publications and source records attributed to C S Houston.
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In patients with cystic fibrosis, plain chest radiographs may suggest the presence of bronchiectasis, bronchoceles, hilar adenopathy, or pulmonary arterial hypertension. We compared computed tomography (CT) with conventional chest radiography in 12 patients. CT clearly reveals the cause of increased linear markings, nodular lesions, and enlarged hila as seen on plain chest radiographs. It showed that nine patients had hilar adenopathy, five had enlarged pulmonary arteries, and 11 had bronchiectasis. Bronchoceles, a finding that may influence therapy, were seen on seven CT scans but on only four of the plain films.
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We describe a family in which two adult sibs presented with a history of congenital nonprogressive myopathy, severe mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of pituitary hypoplasia. The parents were first cousins. An excess of other, apparently unrelated, genetic conditions were present in other family members. Results of histochemical and electron microscopy studies of muscle biopsies from both affected individuals were compatible with multicore disease. This newly described syndrome likely is an autosomal recessive trait and appears to be the first reported association of multicore disease with mental retardation.
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Infantile cortical hyperostosis is a rare proliferative bone disease affecting infants under the age of 6 months. In 1961 a large family of French-Canadian origin in which 14 children in three generations were affected was described. Since then 20 new cases have been found in this family. This is the largest familial aggregation of this disease reported in the literature to date. On the basis of the findings in this pedigree, the familial form of the disease appears to be transmitted by a single autosomal dominant gene with incomplete penetrance and variable expressivity.
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Altitude illness is a group of synergistic physiologic disturbances, each of which may occur alone but which more commonly occur together, with one dominating the clinical picture. Treated promptly, altitude illness is readily reversible with full recovery; procrastination may lead to death or disability. Descent should be the first thought in treatment and should not be delayed.
We report 17 cases of the campomelic syndrome (CS) and a follow-up of one of the original patients of Maroteaux et al who is now 17 years old. Our review is based on 97 patients, including our own. An infant with the CS presents at birth with spectacularly short and bowed femora and tibiae. The initial chest radiograph confirms the diagnosis by demonstrating extremely small bladeless scapulae and hypoplastic pedicles of many thoracic vertebrae. Ossification of the sternal segments, pubis, talus, and knee epiphyses is also retarded. Usually the hips are dislocated and talipes equinovarus deformities are present. There is a small chondrocranium and a disproportionately large neurocranium. The bell-shaped chest, narrow superiorly, does not explain the degree of respiratory distress that soon ensues. Narrow airways from defective tracheo-bronchial cartilage can often be demonstrated on the radiograph, but micrognathia, retroglossia, cleft palate, hypoplastic lungs, and even CNS-based hypotonia contribute to the respiratory problem. Internal anomalies include frequent absence of olfactory bulbs and tracts and dilatation of cerebral ventricles, heart defects (PDA, VSD, stenosis of aortic isthmus), hydroureter and hydronephrosis, renal hypoplasia, renal hypoplasia, and rarely renal cysts.
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Altitude illness, caused by lack of oxygen, manifests itself in several forms, including acute mountain sickness, high-altitude pulmonary edema, and high-altitude cerebral edema. The first of these is usually minor, but the second and third can be fatal unless promptly diagnosed and treated (descent being the most effective management). Other, more specific, problems such as high-altitude retinal hemorrhage and thrombophlebitis can also occur in some individuals. Even so, there are only a few medical reasons to deprive an ambulatory, well-compensated patient of a visit to moderate altitude, and the conscientious physician will weigh carefully the risks against the benefits of a vacation in a beautiful and inspiring mountain setting.
A double-blind randomized study of 45 climbers on Mt. Rainier was conducted to test the effectiveness of antacids in preventing acute mountain sickness. All 45 climbed to 3353 m, and 31 continued to the summit. Ten climbers listed acute mountain sickness as the reason for not attaining the summit. Of symptoms monitored throughout the climb, neither headache, nausea, dizziness, pounding heart, nor shortness of breath differed in severity between antacid-treated and placebo-treated groups. In both groups vital capacity decreased significantly with ascent (p less than 0.05), while peak flow (p less than 0.005) and minute ventilation (p less than 0.001) increased significantly. The 7 climbers with the most severe AMS symptom scores above 4000 m had significantly lower peak flow at sea level prior to ascent compared with the other 25 climbers who completed sea level tests (p less than 0.005). The results of this study fail to document efficacy for antacid use for the prevention of acute mountain sickness.