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Biomedical subjects

P Duffey

Publications and source records attributed to P Duffey.

13 recordsLinked to original sources

Relapsing ischemic encephaloenteropathy and cryoglobulinemia.

Cryoglobulinemia is a rare cause of encephalopathy. The authors report three patients with strikingly similar clinical features of recurrent encephalopathy accompanied by symptoms of gastrointestinal ischemia. In only one patient was cryoglobulinemia ascertained in life during the final illness. The autopsy examinations all showed diffuse cerebral, enteral, and systemic small vessel lesions immunoreactive for immunoglobulins and typical of mixed essential cryoglobulinemia. This unusual relapsing clinical syndrome is readily misinterpreted as of nonorganic origin despite its potentially fatal prognosis.

Aged↗

Effect of dystonia and botulinum toxin treatment on health-related quality of life.

In view of the steadily rising demand for treatment of dystonia with botulinum toxin (BT), a relatively expensive neurologic paralytic agent, an exploratory study was undertaken to assess the extent to which dystonia and BT treatment affect the quality of people's lives. One hundred thirty adults with a current diagnosis of dystonia completed two generic measures of health-related quality of life (HRQoL) at regular intervals over a minimum of 6 months. One hundred two participants were receiving regular injections of BT; 28 were not taking BT. The HRQoL instruments used were the EuroQol and the Short Form 36 health survey questionnaire (SF-36). Compared with general population samples, study participants reported greater impairment on all EuroQol and SF-36 dimensions and gave a lower rating to their own health status. Participants with nonfocal dystonia had significantly more problems with usual activities than participants with focal dystonia, and a higher number had problems with mobility and self-care. The groups reported similar levels of pain and emotional well-being. Small improvements in HRQoL were seen after the administration of BT, although few of these were statistically significant. The study results offer further psychometric evidence for the discriminant and construct validity of both the EuroQol and the SF-36.

Adult↗

Transient focal neurological deficit in sarcoidosis.

Sarcoidosis presents only infrequently with stroke or focal neurological deficit and recurrent focal neurological deficit is rarer still. This case report describes a patients presenting with episodic non-fluent dysphasia of abrupt onset occurring during a period of 18 months without evidence of seizure activity or macroscopic granulomatous collection. The case illustrates that the presentation of neurosarcoidosis may mimic classic reversible ischaemic neurological deficit.

Adult↗

Progressive deterioration of intellect and motor function occurring several decades after cranial irradiation. A new facet in the clinical spectrum of radiation encephalopathy.

OBJECTIVE: To report the cases of 2 patients who developed the features of radiation encephalopathy 33 and 28 years after cranial irradiation. DESIGN: Case reports; clinical data were available for 2 years in each instance. CONCLUSION: Latent intervals approaching 2 decades have been reported in cases of radiation necrosis following cranial irradiation, but a similar or greater delay before the onset of radiation encephalopathy has not been described previously. This report indicates that a diagnosis of radiation encephalopathy must be considered when any individual who has received cranial irradiation presents with deterioration in intellectual or motor function, whatever the interval.

Adult↗

CNS leukemia.

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Central Nervous System Neoplasms↗

Sequential analysis of 43 patients with non-Hodgkin's lymphoma: clinical correlations with cytogenetic, histologic, immunophenotyping, and molecular studies.

Few reports correlating specific cytogenetic abnormalities with distinct subtypes of lymphoma have performed serial studies at diagnosis and at tumor recurrence or progression. In our file of 325 cytogenetically analyzed non-Hodgkin's lymphoma (NHL) patients studied over the past decade, 43 had serial biopsies, 39 of whom had at least two successful preparations; of the 43, nine had one and 32 had two or more cytogenetically abnormal specimens. In this study, we correlated cytogenetic, histopathologic, molecular, and clinical parameters. Patients with low-grade lymphomas were as likely as patients with intermediate- or high-grade lymphomas to acquire new chromosomal abnormalities with time (16 of 23 patients as compared with 7 of 16; P2 = .11, chi 2 test). In four patients, originally diagnosed indolent disease progressed to aggressive disease; all had t(14;18), all gained additional chromosomal abnormalities with disease progression, and three of the four expressed abnormalities associated with disease progression and/or short survival: der(18), +7, and/or +12. Cytogenetic results from early disease were compared with those obtained later in disease: in the t(14;18) group, the most common abnormalities were +7 (eight patients) and der(18) (five patients), both seen later in disease. The most common abnormalities in patients without t(14;18) were 6q deletions; they were seen in both early and late disease and were associated with significantly shorter survivals (P2 = .0014) compared with all patients without 6q deletions. Secondary chromosomal abnormalities, observed after at least one previous abnormal study, were seen in 19 of 22 t(14;18) patients and in 11 of 21 patients without t(14;18) and were associated with a poor survival (P2 = .13) compared with patients without any secondary chromosomal abnormalities. Chromosome 1 abnormalities were seen in almost half of the patients and were observed in initial specimens and early in disease as well as late in disease and as secondary abnormalities; 1q involvement was more frequent than 1p (15 versus eight patients) and was significantly associated with poor survival only in patients with intermediate-/high-grade disease; the most common breakpoints were 1q21-q22 (nine patients) and 1p36 (six patients). Breakpoints at 2q21 and 3q27-q29 were limited to patients with t(14;18) and were almost exclusively secondary in nature. Molecular studies in 24 of our patients showed discrepancies with the cytogenetic results in only three patients: two had t(14;18) but no molecular rearrangements while two patients had no visible t(14;18) but were positive for major breakpoint region (MBR) rearrangement. The presence of MBR or minor breakpoint cluster (MCR) rearrangement had no apparent effect on survival.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗

Cytogenetic study of two cases with lymphoma of mucosa-associated lymphoid tissue.

Cytogenetic studies have been reported in fewer than 20 patients with lymphoma of mucosa associated lymphoid tissue (MALT). Two patients with this disease at the Clinical Center, National Institutes of health had numerical and structural chromosome abnormalities, including +12 in both cases. The clonal karyotypes observed were 48-49,XX,t(2;8)(q33;p23), +3, -10,del(10)(q23), +12, +18 [cp] and 47,X,-X,i(6p), +7, +inv(12)(p13q13). Review of cytogenetic studies from published data showed that all cases of MALT lymphoma reported to date also have both numerical and structural chromosome abnormalities, the most frequent being numerical involvement of chromosomes 3, 7, and 12. Identification of a clonal abnormality can help establish the diagnosis when differential diagnosis includes atypical hyperplasia. Although trisomy 12 has been associated with a poor prognosis in B-cell chronic lymphocytic lymphoma (B-CLL), both these patients with MALT lymphoma have had long survival: 8 and 11 years, respectively.

Chromosome Aberrations↗

Follicular center cell lymphoma with the t(14;18) translocation in which the rearranged BCL-2 gene is silent.

Using reverse transcription and the polymerase chain reaction (RT-PCR), we determined the level of expression of BCL-2/IgH in 18 follicular center cell lymphomas containing a t(14;18) translocation involving the major breakpoint region and five non-neoplastic lymph nodes. BCL-2/IgH transcripts were demonstrated in 16 follicular center cell lymphoma cases (five high, 11 low) and were not present in any of the five non-neoplastic lymph nodes. In the two follicular lymphoma cases in which BCL-2/IgH transcripts could not be detected by RT-PCR, PCR amplification of genomic DNA indicated this was not due to primer selection. In addition, non-expression was confirmed at the protein level by immunoperoxidase studies. We therefore conclude that these represent true negative cases. This is the first time primary follicular lymphoma cases have been quantitatively studied at the RNA level for expression of BCL-2. We conclude that RT-PCR is a sensitive method for determining levels of expression of this oncogene and may be useful in studying the involvement of BCL-2 in follicular lymphoma.

Adult↗

Hydrocele following treatment for Hodgkin's disease.

Thirteen Hodgkin's disease patients developed hydrocele after treatment with radiotherapy (12 patients) or chemotherapy (one patient). An additional patient developed testicular swelling following radiotherapy and chemotherapy. Eleven of 13 patients were staged with laparotomy (nine initially, two at restaging) which included pelvic and aortic node biopsies prior to the development of hydrocele. Five of the patients developed radiation-related pericarditis. These data suggest that staging and treatment of Hodgkin's disease may disrupt pelvic lymphatic flow and lead to hydrocele formation. The high incidence of treatment-related pericarditis may suggest unusual sensitivity to radiation in this group of patients.

Adolescent↗

Initial observations on the effects of delta 9-tetrahydrocannabinol on the plasma pharmacokinetics of cyclophosphamide and doxorubicin.

We studied the effect of THC upon the pharmacokinetics of cyclophosphamide (CTX) and doxorubicin (ADR). Plasma THC was determined by RIA. Plasma concentrations of CTX and ADR were measured by GLC and fluorescence, respectively. RIA confirmed plasma levels of THC greater than 20 ng/ml for patients who received THC. CTX half-life was not significantly changed with use of THC (7.7 +/- 3.6 hours without versus 5.25 +/- 2.6 hours with THC). ADR half-life with THC was greater than without THC (175 +/- 197 hours versus 92 +/- 92 hours, respectively). Total drug exposure as determined by areas under the curves were similar (12.4 +/- 6 microM . hr without versus 13.8 +/- 4 microM . hr with THC). These preliminary data suggest that RIA is reliable for assessing THC plasma concentrations. THC induces no apparent alterations of CTX or ADR pharmacokinetics.

Cyclophosphamide↗