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At least 1,099 records · Page 61Linked to original sources
PubMed1990

Homozygous deletion of the retinoblastoma gene in an acute lymphoblastic leukemia (T) cell line.

Human leukemia cell lines were examined for the status of the retinoblastoma (RB) protein by immunoblotting analysis using antibodies raised against the TrpE-RB fusion protein. One of 16 cell lines examined, the T-cell acute lymphoblastic leukemia (ALL) line HSB-2, lacked the 110-Kd RB protein. Southern blot analysis of genomic DNA extracted from HSB-2 cells showed a large homozygous deletion of the RB gene, stretching from exon 18 beyond exon 27. Northern blot analysis showed multiple, abnormal RB transcripts in HSB-2. A truncated protein (72 Kd) was detected with 35S-methionine labeling but not with 32P-orthophosphate labeling of the HSB-2 cells. The genomic deletion of greater than 85 kb DNA at the RB locus (13q14) was not detectable in the karyotype of the HSB-2 cells. Among the 16 human leukemia cell lines examined for the status of the RB gene, only one, the HSB-2 line, showed an abnormal RB protein. Further study of primary leukemia and lymphoma samples appears to be warranted.

Blotting, Northern↗
PubMed1990

Periventricular echodensities detected by cranial ultrasonography: usefulness in predicting neurodevelopmental outcome in low-birth-weight, preterm infants.

Forty-eight low-birth-weight, preterm graduates of the University of Washington's neonatal intensive care unit who had received periodic, serial scanning by means of cranial ultrasonography during the first 4 to 6 weeks of life were longitudinally observed in an interdisciplinary neurodevelopmental follow-up program to a mean corrected age of 18 months. Mean birth weight for the sample was 1286 g; mean gestational age was 29 weeks. Periventricular echodensities were graded from 0 to 3, with 0 indicating no densities and 3 indicating cystic formation. Intracranial hemorrhage was graded in the conventional manner from 0 to IV. Neurodevelopmental outcome was assessed by means of a neurologic examination and the Bayley Scales of Infant Development. To synthesize the results, neurodevelopmental outcome for each subject was classified as normal, demonstrating minor abnormalities, or demonstrating major abnormalities. Multiple statistical analyses with various subgroupings of subjects consistently indicated severe intracranial hemorrhage (grades III and/or IV) to be a better predictor of overall neurodevelopmental outcome than grade of periventricular echodensity, including small cysts. These results suggest a wide range of outcomes after detection of periventricular echodensities and caution against communicating overly pessimistic prognoses in many cases.

Cerebral Hemorrhage↗
PubMed1978

Craniosynostosis associated with limb reduction malformations and cleft lip/palate: a distinct syndrome.

Craniosynostosis associated with short stature, radial and fibular aplasia, and cleft lip and/or palate represents a distinct syndrome. One original case and one previously undiagnosed case from the literature were found to have many distinct features in common, permitting them to be separated from craniosynostosis with radial or fibular aplasia, Robert's syndrome, pseudothalidomide or SC syndrome, and the hypomelia-hypotrichosis-facial hemangioma syndrome. Each had multiple craniofacial abnormalities: dysplastic ears, hypertelorism, strabismus, and malocclusion. Ulnae and humeri were hypoplastic; tibiae were bowed and hypoplastic. Testes were small. Associated mild to moderate mental retardation may be related to early institutionalization.

Abnormalities, Multiple↗
PubMed1988

Psychotropic management of behavioral disorders after head trauma.

A rational basis for the psychopharmacologic management of behavioral disturbances after head trauma has been presented that is predicated on research in neurotransmitter changes that evolve subsequent to head trauma. The paucity of human studies in this area mandates the use of experimental models and evidence garnered from provocative challenges to suggest the underlying neurotransmitter profile in various behavioral abnormalities. Multiple neurotransmitter circuits exist that provide parallel, duplicate, and redundant systems for these behaviors. Certainly, alternative explanations could be offered for the examples cited above. Furthermore, measurement of neurotransmitter metabolite concentration in cerebrospinal fluid does not allow specific inferences to be made regarding topographic correlation and neurotransmitter function. Nor does it afford assessment of regional differences in psychotropic influence on neurotransmitter receptors. New imaging techniques (eg, positron emission tomography) will certainly aid in this determination. Current investigations, however, support the concept that neurotransmitter changes do occur after head injury, that these alterations exist during the time that "recovery" occurs, and that psychotropic agents influence this recovery process. Further research is needed to clarify neurotransmitter changes after head injury and to identify psychotropic intervention strategies that facilitate the recovery process.

Brain↗
PubMedDate not supplied

Horseshoe lung with multiple congenital anomalies. Case report and review of the literature.

A detailed radiologic and anatomic study of a 20-week-old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed.

Abnormalities, Multiple↗
PubMed1986

Primary intracranial lymphoma. An important differential diagnosis in magnetic resonance imaging of the brain.

The magnetic resonance (MR) appearances are described in 6 pathologically verified cases of primary intracranial lymphoma, and comparison is made with the appearances on computed tomography (CT). In 5 cases, atypical CT appearances were seen and in these cases more extensive and multiple abnormalities were demonstrated by MRI. The importance of differentiating this condition from other pathologies affecting the white matter is discussed.

Adult↗
PubMed1985

An unusual case of gastric carcinoma initially presenting bone metastasis and later transverse myelopathy.

A 44-year-old man with Borrmann type III gastric carcinoma initially presenting bone metastasis and later transverse myelopathy is reported. Chest and skull roentgenograms showed multiple punched-out lesions. A bone scintigram showed multiple abnormal uptake. Histological examinations of biopsy and autopsy materials revealed signet-ring cell carcinoma of the stomach. Disseminated carcinomatosis of the bone marrow was ruled out histologically and neither microangiopathic hemolytic anemia nor disseminated intravascular coagulopathy was observed. Because this patient with bone metastasis did not have metastasis to the liver and lungs we propose that a nonportal route through the vertebral venous plexus might be an alternative to the portal route of bone metastasis from gastric carcinoma. During the last 20 years, only 10 such cases including this one have been reported in Japan. Their prognosis was quite poor and in most of them the malignancy was either undifferentiated adenocarcinoma or signet-ring cell carcinoma. If a bone metastasis is found as the initial sign, physicians should keep in mind that the primary lesion might be in the stomach, or in the thyroid, kidney, lung or prostate as another point of search.

Adenocarcinoma, Mucinous↗
PubMed1987

Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use.

A man with lupus anticoagulant and a prothrombin deficiency was studied before and after cessation of treatment with phenytoin. Multiple abnormal laboratory values of the following partially or completely resolved after the patient's therapy was discontinued: tissue thromboplastin inhibition ratio, prothrombin time, activated partial thromboplastin time, anticardiolipin antibodies, and quantitative measures and abnormal pattern on crossed immunoelectrophoresis of prothrombin. This patient represented an example of a concurrent drug-induced prothrombin deficiency and a lupus anticoagulant.

Adult↗
PubMed1988

Interstitial deletion of 17p11.2: case report and review.

A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases.

Abnormalities, Multiple↗
PubMed1987

Assessment of tumor control following definitive radiotherapy in carcinoma of the prostate--a continuing dilemma.

Following completion of radiotherapy, clinically detectable (palpable) and histologically identifiable prostate carcinoma may persist for an extended period before it undergoes complete resolution. Although in most patients treated with adequate radiotherapy tumor resolution by both clinical and histological criteria occurs in the first 2 years, in a proportion of patients complete resolution may occur during the third year or even later. Since the proportion of patients with late resolution appears to be quite small, it seems reasonable to use the histologically identifiable tumor in the biopsy specimen beyond the second postirradiation year as a criterion for the diagnosis of treatment failure. The available data are insufficient to establish, by histological evaluation, the true pattern of tumor resolution. To achieve such a goal one would need to assess a substantial population of patients, adequately irradiated in a standardized manner, by systemic periodic biopsies over several years. To avoid selection biases, all patients, regardless of the clinical findings, would need to undergo biopsies. To avoid sampling errors, particularly in patients without palpable abnormalities, multiple specimens would need to be obtained from several quadrants of the prostate. The studied population should not receive hormonal management in conjunction with radiotherapy. Only completion of this ideal, hypothetical study and correlation of the biopsy results with long-term follow-up data on local failure, the incidence of distant metastases, and survival would make possible meaningful interpretation of the biopsy results in the future. Only then would it become possible to assign a statistical probability of local and/or distal failure as a function of the biopsy status at a certain point in time.(ABSTRACT TRUNCATED AT 250 WORDS)

Biopsy↗
PubMed1986

A recent aetiological study on facial clefting in Hungary.

A case-control epidemiological and family study was organized of 2024 index patients born between 1970 and 1976 affected by isolated cleft lip +/- cleft palate, isolated posterior cleft palate and multiple congenital abnormalities including facial clefting and of their matched control cases. The specific rate of affected parents and sibs was 2.4% and 4.2% in the isolated cleft lip +/- cleft palate sample, while 2.2% and 3.2% in the isolated posterior cleft palate group. The proportion of polygenic liability was about 77 +/- 8% in isolated cleft lip +/- cleft palate cases. Among teratogens, the triggering impact of certain anticonvulsants was confirmed.

Abnormalities, Multiple↗
PubMed1985

Phenotypic and genotypic analysis of Hodgkin's disease derived cell lines: histopathological and clinical implications.

Five Hodgkin's disease (HD) derived cell lines were established in vitro in our laboratory in the last seven years. Morphological, cytochemical, immunological and cytogenetic marker analysis demonstrated that the in vitro cells represent genotypically and phenotypically the in vivo Hodgkin (H) and Sternberg-Reed (SR) cells in biopsy specimens. The cultured cells resemble haematolymphoid cells at different stages of maturation. Four of the five continue to grow in vitro as suspension cells after more than 50 months. Four more in vitro HD-derived lines were described recently by several authors. A summary of the various marker characteristics of these in vitro lines is given as a synopsis of the phenotypic marker spectrum and is discussed in comparison with our own cell lines. There is a striking similarity between two of the newly established lines (CO, HDLM-2) and our lines whereas the two other in vitro established cultures seem to resemble cell species further along the line of maturation to B lymphocytes (DEV) and monocytes (SU-HD-1). Gene rearrangement experiments undertaken with the L428, L540, L591 and the CO cell line show that the L428 and 591 cells have undergone gene rearrangement, the L428 being compatible with the genotypic state of a pre-B cell; the L591 cells, similarly rearranged furthermore demonstrated functional light chain rearrangement, compatible with B-cell development. By cytogenetic analysis chromosome 7 was found to be affected in all our described lines. This chromosome appears to be particularly unstable and vulnerable in patients with HD, since all tested cell lines revealed multiple abnormalities of this chromosome, a finding which is in accordance with observations made by other investigators in HD-biopsy cells. Since similar structural changes or loss of chromosome 7 is a characteristic event in cases of secondary acute non-lymphocytic leukaemia, it is speculated that this form of secondary neoplasia could resemble the blast crisis, as observed in chronic myeloid leukaemia.

Cell Line↗
PubMed1985

Experiences with the Carpentier techniques of mitral valve reconstruction in 103 patients (1980-1985).

A total of 103 patients, age range 2 to 77 years, had some type of Carpentier reconstruction for mitral insufficiency. The mitral insufficiency resulted from ruptured chordae in 52, prolapse in 13, rheumatic fever in 16, coronary disease in eight, congenital disease in nine, and endocarditis in five. Multiple abnormalities were usually present. Four patients had severe calcification of the anulus. A reconstruction was accomplished in almost all patients. A ring annuloplasty was performed in all but two small children, but annuloplasty alone was adequate in only 17 patients. Fifty-eight had resection of 1 to 4 cm of diseased mitral leaflet. In 23 patients, chordal transposition or shortening was employed. Aortic leaflet repair was done in 28. Shortened, fused chordae (one to eight) were divided in 13 patients. Additional procedures performed in 28 patients included coronary bypass in 14. A successful repair was accomplished in all but one patient (moderate residual insufficiency). Two late hospital deaths were unrelated to the mitral repair. Following hospital discharge, ring dehiscence necessitated repeat operation in one patient. Thromboembolism produced a permanent minor neurological deficit in only one patient. There have been no late recurrences of insufficiency. Recurrent endocarditis necessitated valve replacement in three patients. A late Doppler evaluation of 95 patients for mitral insufficiency revealed none in 82, a trace in 12, and moderate insufficiency in one. Late catheterization in 16 patients revealed no insufficiency. The data suggest that reconstruction, rather than prosthetic valve replacement, can be successfully performed in over 90% of patients with nonrheumatic, noncalcified mitral valves. A much wider use of the technique seems strongly indicated.

Chordae Tendineae↗