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PubMed1991

Thioguanine used in maintenance therapy of chronic myeloid leukaemia causes non-cirrhotic portal hypertension. Results from MRC CML. II. Trial comparing busulphan with busulphan and thioguanine.

Portal hypertension with varices developed in 18/675 patients with chronic myeloid leukaemia (CML) in a randomized trial comparing busulphan with busulphan and thioguanine. All 18 had received the drug combination and none busulphan alone (P less than 0.0001). Ascites was also seen significantly more often in the combination arm (P less than 0.05). These results strongly suggest that the addition of thioguanine was responsible for the development of portal hypertension. The histological features were predominantly those of non-cirrhotic portal hypertension--either idiopathic portal hypertension with minimal morphological abnormalities, nodular regenerative hyperplasia or in two cases leukaemic infiltration only was noted. Cirrhosis was present in 3/16 cases studied. Both treatment groups developed abnormal liver function tests during the chronic phase, but particularly with progression of the disease. During chronic phase abnormalities were significantly more frequent in those receiving busulphan and thioguanine-alkaline phosphatase (P less than 0.02), transaminases (P less than 0.04), bilirubin (P less than 0.05), multiple abnormalities (P less than 0.01). The development of portal hypertension was often associated with abnormalities of these tests; however, lack of specificity precludes their use as a predictor of subsequent clinical problems. Thioguanine confers no survival advantage in this disease. In view of its hepatotoxicity it should not be used routinely for maintenance of control in chronic phase CML.

Alkaline Phosphatase↗

PubMed1997

Frequent detection of mutations in the 5' flanking region of the prostate-specific antigen gene in female breast cancer.

Prostate-specific antigen (PSA) is expressed in normal, hyperplastic and cancerous female breast tissue. Expression is regulated by steroid hormones. Some breast tumours produce very high levels of PSA, while other do not express any PSA. In this study, we selected three primary breast tumours which overexpressed PSA (PSA protein concentration in tumour cytosols > 4300 ng/l) and three tumours which were negative for PSA (< 1 ng/l). We extracted DNA and sequenced all five exons of the PSA gene. No mutations were found in the PSA coding sequence in any of the tumours. We identified only two polymorphic sites in exon 2. We also sequenced parts of the 5' flanking region of the PSA gene in five tumours. All tumour DNAs contained abnormalities which consisted of point mutations and deletions of 1-7 base pairs. Except for one tumour which had only a 3 base pair deletion, all other tumours had multiple abnormalities (up to seven in one tumour). The deletions occurred adjacent to direct repeats similarly to deletions seen in the p53 gene. Our data suggest that the coding sequence of PSA is not mutated in breast cancer. However, the 1.4 kb 5'-flanking region was mutated in all five tumours tested. The importance of this observation in relation to PSA gene regulation and breast cancer pathobiology remain to be determined.

Base Sequence↗

PubMed1996

A prospective controlled study of high-resolution thyroid ultrasound in patients with globus pharyngeus.

The sensation of a lump in the throat may be the presenting symptom of thyroid enlargement, but the majority of thyroid abnormalities are undetectable by clinical examination. The thyroids of 43 patients with globus pharyngeus and 33 controls were prospectively examined by high-resolution ultrasound, to test the hypothesis that a higher incidence of impalpable thyroid abnormalities exists in patients with globus pharyngeus than in the normal population. Abnormalities were present in 31/43 (72%) patients with globus and in 11/33 (33%) controls (P < 0.001). Of the patients with globus, 17 had solitary nodules or cysts, 10 had multiple abnormalities and diffuse abnormality was present in four patients. Solitary nodules ranged from 4 to 29 mm. Impalpable, ultrasound-detectable abnormalities are significantly more common in patients with globus pharyngeus than in controls. Abnormalities of the thyroid gland may be responsible for globus symptoms.

Adult↗

PubMed1989

Multiple uncommon chromosome abnormalities in acute myelomonocytic leukemia (AMMoL-M4) with rapid progression.

We observed multiple uncommon chromosome abnormalities resulting in marker formation in a patient with AMMoL-M4. The breakpoints of the aberrations corresponded to common "cancer breakpoints" described by Mitelman and also--to localisation of some protooncogenes. The activation of these multiple protooncogenes in the described case might result in rapid progression of the disease and in the resistance to therapy.

Adult↗

PubMedDate not supplied

Middle ear function in rheumatoid arthritis: a multiple frequency tympanometric study.

OBJECTIVE: To evaluate the modifications in the mechanical properties of the middle ear in rheumatoid arthritis by assessing its resonance frequency. METHODS: Thirty patients with rheumatoid arthritis (RA) aged 20 to 68 years (mean age 45.8 +/- 12.4 yrs) were investigated by multiple frequency tympanometry and their data were compared with those obtained in a control group of 48 subjects aged from 19 to 65 years. RESULTS: Normal values, calculated at the 95th percentile from the control group, ranged from 800 to 1250 Hz. Eleven RA patients (36.6%) displayed abnormal resonance values. These findings were monolateral in 9 patients and bilateral in 2 (in all a total of 13 ears). Nine out of 13 ears with abnormal multiple frequency tympanometry data were characterized by an increase in resonance and 4 by a decrease. CONCLUSION: These findings were attributed to abnormal acoustic impedence of the middle ear and indicate a possible involvement of the ossicular diarthroses in RA. Our study suggests that RA may involve the incudo-malleolar and incudo-stapedial joints, altering the ossicular mechanisms in response to static air pressure modifications.

Acoustic Impedance Tests↗

PubMed1996

In vitro and in vivo studies of mesothelioma.

Pleural mesothelioma is an asbestos-related malignancy characterized by progressive local growth, late metastases, and median survivals between 8 and 18 months. It is only recently that the in vitro and in vivo characteristics of the malignancy has been investigated. These investigations have been aided by the development of cell lines from patients with the disease, as well as lines developed from asbestos-exposed animals. Nude mouse models constructed with subcutaneous, intraabdominal, or intrathoracic innoculation of cultured cell lines or fresh tumor have been used for evaluating response to innovative therapies. Karyotyping has been performed on a number of cell lines and multiple abnormalities involving many chromosomes have been identified. Aneuploidy is commonly seen, along with reported non-random patterns of chromosomal aberrations. The role of tumor suppressor genes, including p53 is controversial. Multiple growth factors including PDGF are being investigated for a possible paracrine/autocrine loop, and PDGF receptors seem to be differentially expressed in mesothelioma cells compared to normal mesothelial cells. The role of cytokines in the pathophysiology of the disease, secreted either by the tumor cells themselves or by monocyte/macrophages in the local tumor environment, remains to be defined.

Animals↗

PubMed1992

Dysphagia in Huntington's disease: a 16-year retrospective.

Degenerative diseases of the basal ganglia are commonly complicated by dysphagia. In 35 patients with Huntington's disease (HD), a hereditary neurodegenerative basal ganglia disease characterized by chorea, dementia, and emotional changes, an extensive battery of clinical and radiologic procedures helped to identify numerous abnormalities of deglutition. The results permitted the classification of our patients with HD into hyperkinetic (HD-h) or rigid-bradykinetic (HD-rb) groups. Although the two groups share multiple abnormalities, statistically significant intergroup differences were observed. Clinical assessment of the HD-h cohort (30 patients) demonstrated rapid lingual chorea, swallow incoordination, repetitive swallows, prolonged laryngeal elevation, inability to stop respiration, and frequent eructations. In the HD-rb group (five patients), frequently observed abnormalities included mandibular rigidity, slow lingual chorea, coughing on foods, and choking on liquids. Videofluoroscopic swallowing studies (VFSS) using a variety of barium-impregnated foods and liquids confirmed the abnormalities noted on the clinical assessment. Respiratory and laryngeal chorea, pharyngeal space retention, and aspiration were also identified. Numerous compensatory techniques introduced during videofluoroscopy benefited all patients.

Activities of Daily Living↗

PubMed2001

Quality of life after great auricular nerve sacrifice during parotidectomy.

OBJECTIVE: To determine the impact of great auricular nerve (GAN) sacrifice during parotidectomy on patients' quality of life. DESIGN: Historical cohort survey of patients who had undergone GAN sacrifice during parotidectomy. SETTING: Tertiary academic otolaryngologic practice. PATIENTS AND METHODS: Fifty-three patients who had undergone GAN sacrifice during parotidectomy completed an 8-item quality-of-life survey with a 7-point response scale designed to measure outcome after GAN sacrifice during parotidectomy. RESULTS: Thirty patients (57%) reported experiencing at least 1 abnormal symptom, but the mean number of symptoms decreased significantly with time, from a mean of 2.3 during the first year to 0.2 after 5 years (P<.001). Even among patients experiencing symptoms, 23 (77%) reported only a little or no bother caused by the symptoms, and 27 (90%) reported no interference or almost none with their daily activities. The degree of bother or interference reported had a moderate positive correlation with the number of abnormal sensations reported. CONCLUSIONS: The results suggest that, while many patients experienced sensory deficits, the overall quality of life was not significantly affected after GAN sacrifice during parotidectomy. Patients who report multiple abnormal sensations, however, would benefit from additional counseling and from reassurance that the number of sensations will diminish with time. Further study evaluating the effect of preservation of the posterior branch of the GAN during parotidectomy on patients' quality of life is needed.

Adult↗

PubMed1995

Germ-line Tsc2 mutation in a dominantly inherited cancer model defines a novel family of rat intracisternal-A particle elements.

A spontaneous hereditary cancer syndrome in the Eker rat serves as a useful model for studying tissue-specific tumorigenesis. The genetic basis of this germline mutation was found to involve the tuberous sclerosis 2 (Tsc2) gene. In this study, we have identified and characterized a full-length rat intracisternal A-particle (IAP) element that has undergone an intronic transposition as the mechanism of inactivating the Tsc2 gene. The insertion of this 6253 basepair element disrupted the transcription of the gene to give rise to multiple abnormal mRNA. Genomic organization of this novel IAP element is similar to a typical retroviral structure including the gag, pol and env domains with flanking LTRs. This Eker rat associated (ERA) IAP sequence was found to contain multiple termination codons rendering it non-functional with respect to its endogenous genes. The element is conserved among different rat strains and the distribution of the estimated approximately 580 copies throughout the rat genome would support their random integration. The net effect of the mutation causes the expression of abnormal predicted proteins devoid of the rap1GAP-like catalytic domain that lies 3' to the insertion. These results provide evidence that cancer predisposition can be the direct consequence of germ-like insertional mutation by retrotransposition targeting a tumor suppressor gene.

Amino Acid Sequence↗

PubMed2002

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning-fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria.

Abnormalities, Multiple↗

PubMed2002

Abnormalities of grey and white matter [11C]flumazenil binding in temporal lobe epilepsy with normal MRI.

In 20% of potential surgical candidates with refractory epilepsy, current optimal MRI does not identify the cause. GABA is the principal inhibitory neurotransmitter in the brain, and GABA(A) receptors are expressed by most neurones. [(11)C]Flumazenil (FMZ) PET images the majority of GABA(A) receptor subtypes. We investigated abnormalities of FMZ binding in grey and white matter in 18 patients with refractory temporal lobe epilepsy (TLE) and normal quantitative MRI. Parametric images of FMZ volume of distribution (FMZ-V(d)) were calculated. Twenty-one healthy controls were scanned for comparison. Statistical parametric mapping (SPM99) was used to localize significant changes in FMZ-V(d) in individual patients and between groups, specifically including the entire white matter in all subjects through explicit masking. Sixteen of 18 patients showed single or multiple abnormalities of FMZ-V(d). Six had hippocampal decreases of FMZ-V(d). Eleven patients showed increased FMZ-V(d) in the temporal lobe white matter (TLWM). Outside the mesial temporal structures, seven showed multiple areas of increase or decrease and only one a single area of decrease. In seven of the 16 patients with abnormalities, findings were concordant with EEG and clinical data, enabling further presurgical evaluation. Group findings were: (i) decreased FMZ-V(d) in the ipsilateral (Z = 3.01) and contralateral (Z = 2.56) hippocampus; (ii) increased FMZ-V(d) in the ipsilateral (Z = 3.71) and contralateral TLWM (two clusters, Z = 3.11 and 2.79); and (iii) increased FMZ-V(d) in the ipsilateral frontal lobe white matter between the superior and medial frontal gyrus (Z = 3.80) with similar changes contralaterally (Z = 4.87). No changes were found in the thalamus and basal ganglia. Region-of-interest analyses indicated an average increase in FMZ binding of 16% in the TLWM ipsilateral to the epileptic focus. PET findings were corroborated by invasive EEG or pathology in five cases. FMZ-PET, analysed by SPM with explicit masking, was sensitive in patients with normal MRI, and hippocampal abnormalities were detected in a third of these patients. Furthermore, increases in FMZ binding in TLWM, indicating microdysgenesis, were detected in the majority of these patients and may represent the structural basis of their epilepsy.

Adolescent↗

PubMed1994

Lipoprotein composition in insulin-dependent diabetes mellitus with chronic renal failure: effect of kidney and pancreas transplantation.

Chronic renal failure (CRF) in nondiabetics is associated with a number of lipoprotein abnormalities that place these patients at high risk for atherosclerosis. This study compared the lipoprotein composition of nondiabetic controls (n = 68) with that of patients with insulin-dependent diabetes mellitus ([IDDM] n = 13) and of patients with IDDM and CRF ([IDDM + CRF] n = 74). Six lipoprotein subfractions (very-low-density lipoprotein [VLDL], intermediate-density lipoprotein [IDL], low-density lipoprotein [LDL], high-density lipoprotein-light [HDL-L], HDL-medium [HDL-M], and HDL-dense [HDL-D]) were isolated by rapid gradient ultracentrifugation using a fixed-angle rotor. The apolipoprotein (by reverse-phase high-performance liquid chromatography [HPLC]) and lipid (by enzymatic assays) composition of each subfraction was determined. The only abnormalities found in IDDM patients were increases in IDL and HDL-L triglyceride (TG) levels and an increase in the HDL-L free cholesterol (FC) level. The IDDM + CRF group had multiple abnormalities including (1) elevated TG, apolipoprotein (apo) C-II, and apo C-III levels in all lipid subfractions; (2) elevated VLDL and IDL apo B, TG, FC, cholesterol ester (CE), and phospholipid (PL) levels (with an increased CE/TG ratio in VLDL only); (3) decreased HDL-M apo A-I, apo A-II, CE, and PL levels, but an increased HDL-D apo A-I level; and (4) decreased lecithin:cholesterol acyltransferase (LCAT) activity. Twenty-five of the IDDM + CRF patients underwent combined pancreas and kidney (P + K) transplantation, and 12 patients received only a kidney transplant. Lipoprotein composition was determined at 3, 6, and 12 months posttransplant. Both types of transplantation resulted in similar alterations in lipoprotein composition, even though there was essential normalization of blood glucose levels in most of the patients who received a pancreas transplant (hemoglobin A1C [HbA1C], 9.1% +/- 1.1% v 5.7% +/- 0.3% at 12 months, P < .01). These posttransplant changes included (1) no improvement in the elevated TG level in any lipid subfraction even though there was some reduction in apo C-III levels in VLDL; (2) reductions in levels of VLDL and IDL apo B but increases in LDL apo B; (3) increases in HDL apo C-III and FC concentrations despite an increase in LCAT activity; and (4) increases in apo A-I levels in HDL-L and HDL-M. The addition of a pancreas to a kidney transplant had no obvious impact on the lipoproteins.(ABSTRACT TRUNCATED AT 400 WORDS)

Adult↗

PubMed1986

Effects of NIDDM on very-low-density lipoprotein triglyceride and apolipoprotein B metabolism. Studies before and after sulfonylurea therapy.

To evaluate mechanisms of diabetes-induced changes in very-low-density lipoprotein (VLDL), VLDL triglyceride (TG) and VLDL apolipoprotein B (apoB) metabolism were studied in 12 obese Pima Indian control subjects and in 15 Pima Indian obese non-insulin-dependent diabetics. Eleven of the diabetics were restudied after reduction of hyperglycemia with oral sulfonylurea therapy. In addition, adipose, muscle, and postheparin lipoprotein lipase and postheparin hepatic lipase activities were measured in all subjects. Obese diabetics as compared with obese controls showed a trend toward increased production of VLDL TG (46 +/- 4 vs. 35 +/- 6 g/day, P = .10) but not of VLDL apoB (1595 +/- 106 vs. 1597 +/- 164 mg/day, NS); production of VLDL TG declined to control levels (33 +/- 4 g/day, P less than .05) during therapy, whereas there was no change in production of VLDL apoB. Diabetics had a clearance defect for VLDL, indicated by significantly lower fractional catabolic rates for both VLDL TG (10.6 +/- .9 vs. 13.1 +/- .9 pools/day, P less than .05) and VLDL apoB (5.6 +/- .4 vs. 7.5 +/- 0.7, P less than .05) as compared with controls; fractional catabolic rates increased after therapy (to 13.3 +/- 1.5, P less than .05, and 6.7 +/- .4, P less than .05, respectively). In the diabetics, this decrease in clearance was accompanied by a lower adipose lipoprotein lipase (.30 +/- .09 vs. .92 +/- .25 mumol X g-1 X h-1, P less than .01), which increased during therapy (to .61 +/- .17, P less than .05). Hepatic lipase also decreased significantly after therapy (27.4 +/- 3.6 to 26.4 +/- 3.2, P less than .01). Composition of VLDL in diabetics was also abnormal, indicated by a higher TG/apoB ratio (14.7 +/- .6 vs. 11.7 +/- .8, P less than .01); this ratio fell during therapy (to 12.5 +/- .8, P less than .05). The data indicate there are multiple abnormalities in structure and metabolism of VLDL in non-insulin-dependent diabetics. Control of hyperglycemia with sulfonylureas has the capability of reversing some of these abnormalities.

Adult↗

PubMed1979

Abnormal laboratory test results and their relationship to prognosis in discoid lupus erythematosus. A long-term follow-up study of 92 patients.

Investigation of 92 patients with discoid lupus erythematosus, manifested initially by localized cutaneous lesions only, showed abnormal laboratory test results for 57 patients (62%) on admission and for 62 patients (67.4%) on review 16 to 20 years later. Patients with discoid lesions confined to the head and neck (DLE) showed fewer laboratory abnormalities than those patients with disseminated lesions involving trunk and limbs (disseminated discoid lupus erythematosus [DDLE]). Systemic lupus erythematosus (SLE) eventually developed in six (6.5%) of the patients, and all had shown persistent multiple abnormal laboratory findings from the beginning. Complete remission occurred in 46.7%. A persistent positive antinuclear factor of either speckled or homogeneous pattern with a titer greater than 1:50, leukopenia, thrombocytopenia, or a false-positive Wassermann reaction indicated those patients who may progress to DDLE or SLE.

Antibodies, Antinuclear↗

PubMed1996

Multiple subpial transection for Landau-Kleffner syndrome.

Landau-Kleffner syndrome (LKS) is an acquired epileptic aphasia caused by a lesion in the speech centers of the cerebral cortex during a critical period of childhood development. Characteristics of LKS include language deterioration, seizure disorders, and severe electroencephalogram abnormalities. Multiple subpial transection (MST) is a surgical procedure that eliminates seizure activity in the cerebral cortex while preserving the child's normal cortical functions of speech, movement, primary sensation, and memory. This article presents a summary of clinical studies on LKS and discusses the diagnosis of LKS, traditional medical treatments, patient selection for MST procedures, and perioperative care of children undergoing MST procedures.

Child↗

PubMed1996

Trisomy 15 mosaic derived from trisomic conceptus: report of a case and a review.

We report on a fetus with 47,XX,+15 chromosome abnormality detected on chorionic villus sampling (CVS). The pregnancy was terminated at 15.5 weeks of gestation and chromosome analysis done on amniocytes and fetal tissues showed a karyotype 46,XX/47,XX,+15. Autopsy showed multiple abnormalities. Short-arm polymorphisms of the three number 15 chromosomes were highly informative in the delineation of parental origin and the stage of meiotic error. Using fluorescent in situ hybridization (FISH) with D15Z1 and a chromosome 15 painting probe, in addition to DA/DAPI and G-banding, we were able to show that the trisomic conceptus was derived through maternal meiosis I error. The trisomic state was then partially corrected by the loss of one of the two maternal 15s resulting in mosaicism without uniparental disomy (UPD). Striking differences in the proportion of trisomic cells in kidneys, blood, intestine, and skin, and lower proportions of trisomic cells in transformed and frozen than in fresh tissues, illustrate the continuing cell selection in this fetus in favour of the normal cell line. Trisomy 15 conceptions are usually aborted spontaneously in the first trimester of pregnancy. The longer survival of this fetus is most probably the result of a chromosome 15 loss from the trisomic zygote. To the best of our knowledge, the presence of this lethal trisomy has been reported in only five live-born infants, and in five fetuses including the present case, it was detected prenatally and the pregnancies were terminated.

Adult↗

PubMed1986

Novobiocin antagonism of amastigotes of Trypanosoma cruzi growing in cell-free medium.

Inhibitors of the enzyme bacterial topoisomerase II (DNA gyrase) were evaluated for activity against Trypanosoma cruzi (Brazil strain), based on the theoretical need for a topoisomerase II in the replication of the kinetoplast DNA network. Novobiocin (500 micrograms/ml) antagonized amastigotes of T. cruzi growing in a cell-free medium at 37 degrees C, as manifested by inhibition of multiplication, abnormal morphology of Giemsa-stained organisms, and delayed or absent growth of cells upon subculturing in a drug-free medium. In contrast, novobiocin (1,000 micrograms/ml) essentially had no effect on the multiplication and motility of epimastigotes growing in a cell-free medium at 27 degrees C. This resistance of epimastigotes represented a difference in the physiology of this morphologic stage and not in the temperature of experimentation, because novobiocin inhibited multiplication of amastigotes at 27 degrees C as well and accelerated transformation to epimastigotes. With T. cruzi growing within cultured human fibroblasts, novobiocin (200 micrograms/ml) markedly inhibited transformation of intracellular amastigotes to trypomastigotes. Clorobiocin, a structural analog of novobiocin and likewise an inhibitor of the B subunit of bacterial topoisomerase II, was five times more potent on a molar basis than novobiocin was in antagonism of amastigotes growing in a cell-free medium and did not antagonize epimastigotes. Coumermycin A1, another analog of novobiocin, and five 4-quinolone antibacterial agents, antagonists of the A subunit of bacterial topoisomerase II, inhibited neither amastigotes nor epimastigotes. These experiments indicate that novobiocin and clorobiocin represent a new structural class of drugs with activity against T. cruzi. Whether the mechanism of action of these drugs involves antagonism of a T. cruzi topoisomerase II or an unrelated target is yet to be determined.

Animals↗

PubMed1988

Dysmaturation neuromyopathy: correlation with minimal neuropathy in sural nerve biopsies.

Dysmaturation (neuro)myopathy without specific histochemical or cytoarchitectural characteristics accounts for many cases of hypotonia in infancy. We obtained a maturation profile for type I and type II fibers from birth to 6 years of age, from which a classification of fiber dysmaturation based on fiber-type hypotrophy and coefficient of fiber variation is presented. We analyzed the morphometric, ultrastructural, and single fiber teasing findings in the sural nerve of ten infants with hypotonia and dysmaturation myopathy based on the above classification. Data on endoneurial area, myelinated fiber density, proportion of large (greater than 6 micron) myelinated fibers, unmyelinated fiber density, regression analyses of myelin area:axon area, and mean myelin thickness were developed. Abnormalities in large myelinated fiber density (3 cases), disturbances in myelination index (5), and single fiber teasing abnormalities in internode length (1) were found. Ultrastructural abnormalities were observed and classified as group 0 changes similar to the five control nerves; group 1, in which rare fibers showed degeneration or basement membrane duplication; and group 2, which was characterized by multiple abnormalities including degenerate nuclei, amyelinate fibers, degeneration/regeneration, excessive basal lamina reduplication, and hypomyelination. This study provides evidence that minimal neuropathic abnormalities are present in the sural nerve of infants carrying a diagnosis of dysmaturation neuromyopathy.

Adolescent↗