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Biomedical subjects

H Travers

Publications and source records attributed to H Travers.

At least 37 records · Page 2Linked to original sources

Huntington's disease in Venezuela: neurologic features and functional decline.

We studied 65 Huntington's disease patients and 225 at-risk individuals over the past 4 years. The rate of decline of these untreated patients from Venezuela was similar to that seen in US patients who had received neuroleptic drugs. Chorea, oculomotor dysfunction, and dysdiadochokinesis were early symptoms; parkinsonian features and dystonia came later. Juvenile patients declined nearly twice as fast as adult-onset patients. No distinctive neurologic phenotypes were seen in children of two affected parents.

Adult↗

Ultrastructural study of the liver in argininosuccinase deficiency.

The liver of a 19-year-old woman with argininosuccinase deficiency was studied ultrastructurally under conditions for excellent tissue fixation. Dilated smooth endoplasmic reticulum and mitochondrial crystalloids were the most prominent abnormalities found. These features were compared to fine-structural abnormalities found in other disorders of the Krebs-Henseleit pathway. No change was considered specific or related to subcellular enzyme localization.

Adult↗

Chemical cholecystitis associated with hepatic arterial chemotherapy delivered by a permanently implanted pump.

The introduction of chemotherapeutic agents directly into the proper hepatic artery via an indwelling catheter results in perfusion of the gallbladder, because the cystic artery is usually a branch of the right hepatic artery. Five gallbladders, removed two to 16 months after insertion of permanently implanted Infusaid model 400 pumps, were examined. All of the gallbladders had significant arteritis, with narrowing or occlusion of lumina or necrosis of vessel walls. Fibrosis of the gallbladder wall was also a constant finding. Nuclear atypia of mucosal epithelium and connective tissue was common. Varying degrees of acute and chronic inflammation were present. These abnormalities may have a radiomimetic and direct irritant pathogenesis.

Adenocarcinoma↗

A large kindred with X-linked mental retardation, marker X and macroorchidism.

Thirty-eight members of a black kindred with mental retardation and the Marker X were studied. Ten of 14 affected males, 6 of 6 affected females, 18 carriers or possible carriers, and 7 normal males were examined. Eight of 9 affected males who could be measured had macroorchidism, but their ears and mandibles were not prominent. No distinct facies were evident, although minor anomalies, such as a slight pectus, were present in some. Clinical diagnosis in the absence of a strongly positive family history may be even more difficult among prepubertal black children than in whites. The risk of retardation among children of carriers was estimated at 20-40%.

Abnormalities, Multiple↗

Dominant inheritance of bifid nose.

To our knowledge, median cleft of nose without apparent hypertelorism (bifid nose) has been reported only twice [Esser, 1939; Boo-chai, 1965]. We report five individuals in 3 generations of a family who had a bifid nose without apparent hypertelorism or mental retardation. In this family bifid nose was most likely an autosomal dominant trait.

Abnormalities, Multiple↗

Intraplaque hemorrhage: its significance in cerebrovascular disease.

Recently, carotid plaque factors, specifically intraplaque hemorrhage, have been studied with respect to the production of cerebrovascular symptoms. Ninety-five carotid endarterectomies were performed and the plaques that were removed were examined for intraplaque hemorrhage. Patients were separated into three groups: those with specific neurologic symptoms, those with nonlateralizing symptoms, and those who were asymptomatic. In the group of patients who presented with specific neurologic symptoms, correlation was made between the age of the intraplaque hemorrhage and the timing of symptoms. The vast majority of patients with specific neurologic symptoms exhibited carotid plaque hemorrhage, but patients with nonlateralizing symptoms and those who were asymptomatic also demonstrated an unexpectedly high percentage of intraplaque hemorrhage. Moreover, our results show a poor relationship between the timing of symptoms and the age of the intraplaque hemorrhage. These data do not refute the concept that intraplaque hemorrhage may play a role in the production of cerebrovascular symptoms, but they do refute the notion that the mere presence of hemorrhage causes specific neurologic symptoms and they also refute the previous report that demonstrates a good correlation between the timing of symptoms and the age of the intraplaque hemorrhage.

Aged↗

Unusual radiation-induced pneumopathy.

Rare and unusual features of malignant tumors are spontaneous tumor regression and tumor maturation. An even more unusual pattern is the "reactive" mass formation produced by fibrous tissue proliferation and inflammation following radiotherapy and simulating tumor recurrence, like in the following case of pulmonary carcinoid. Radiological and pathological documentations are presented and discussed.

Carcinoid Tumor↗

Congenital polycystic tumor of the atrioventricular node: possible familial occurrence and critical review of reported cases with special emphasis on histogenesis.

Congenital polycystic tumor of the atrioventricular node is a rare tumor of disputed histogenesis. It constant location in the atrioventricular node separates it from other cardiac cysts and tumors of indisputable endodermal origin. New studies of the embryogenesis of conduction tissues provide a reasonable explanation for the site of the lesion. Morphologic and histochemical features of the tumor fail to conclusively favor either a mesothelial or an endodermal genesis. A recently studied case provides some new morphologic observations (complex desmosomes, granule-containing epithelial cells) and suggests the possibility of of familial occurrence.

Aged↗

Non-Hodgkin's lymphoma: identification of the monoclonal B lymphocyte component in the presence of polyclonal immunoglobulin.

A high proportion of non-Hodgkin's lymphomas are neoplastic proliferations of B lymphocytes, and, as such, express integral membrane and/or cytoplasmic immunoglobulin (Ig). Because these cellular proliferations are monoclonal, the Ig of all neoplastic lymphocytes will have identical light chain type and idiotype. These tumors sometimes contain significant amounts of polyclonal Ig. In this study we demonstrate that the polyclonal non-B-lymphocyte-associated Ig may be removed by washing tissue at low pH to reveal either neoplastic B lymphocytes or neoplastic "null" lymphocytes. These observations should facilitate the application of immunohistology to the routine diagnosis of lymphoma.

B-Lymphocytes↗

Home ventilator care.

The need for continuous home ventilatory care can arise when patients who are otherwise stable cannot be weaned from mechanical ventilatory support. Two cases are presented that show these patients can be cared for at home at a cost less than their care in the hospital. Before deciding on home ventilatory care for a patient, one should carefully consider all supportive measures, including drug therapy and psychosocial factors. The choice of home care equipment depends on many individualized considerations. The successful management of a patient on a home ventilator requires careful preparation, extensive home instruction, and continued follow-up by a home health care team.

Home Care Services↗

Genetic counseling in osteogenesis imperfecta.

Counseling of families with osteogenesis imperfecta was approached largely through the classification and data provided by Sillence and associates. Accurate pedigree data and a knowledgeable clinical team that can identify the affected family members as being one of the four major types can produce highly accurate risk figures in nearly all instances. Antenatal diagnosis, particularly an oblique radiographic view of the abdomen, is likely to detect at least a portion of the severely affected cases and should be offered in nearly all instances; it is particularly important in Types II and III where the manifestations are often severe. Improved biochemical diagnostic techniques will undoubtedly permit the categorizing of Type III cases into those that are truly recessively inherited and those that are new, dominant mutations, and thus lead to significantly improved counseling. On the other hand, counseling for the other types will not be greatly altered by better tests, except that the definition of further subtypes in I and IV might provide a more accurate estimate of the burden for a specific family. It may also become possible to use improved biochemical studies for antenatal diagnosis through a variety of approaches. Finally, sufficient benefit from genetic counseling is realized to warrant the referral of all patients to an appropriate medical genetics center for counseling.

Female↗