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J Roche

Publications and source records attributed to J Roche.

At least 19 recordsLinked to original sources
PubMed1997

Epidemic of accidental carbon monoxide poisonings caused by snow-obstructed exhaust systems.

We report a case series of accidental carbon monoxide poisonings caused by snow-obstructed automobile exhaust systems. Accumulation of more than 24 inches of snow contributed to the poisoning of 25 patients who were subsequently treated with hyperbaric oxygen therapy. Two illustrative cases are presented in greater detail, illustrating a life-threatening hazard associated with heavy snow accumulations.

Aged↗
PubMed1997

Chromosome 3p14 homozygous deletions and sequence analysis of FRA3B.

Loss of heterozygosity (LOH) involving 3p occurs in many carcinomas but is complicated by the identification of four distinct homozygous deletion regions. One putative target, 3p14.2, contains the common fragile site, FRA3B, a hereditary renal carcinoma-associated 3;8 translocation and the candidate tumor suppressor gene, FHIT. Using a approximately 300 kb comsid/lambda contig, we identified homozygous deletions in cervix, breast, lung and colorectal carcinoma cell lines. The smallest deletion (CC19) was shown not to involve FHIT coding exons and no DNA sequence alterations were present in the transcript. We also detected discontinuous deletions as well as deletions in non-tumor DNAs, suggesting that FHIT is not a selective target. Further, we demonstrate that some reported FHIT aberrations represent normal splicing variation. DNA sequence analysis of 110 kb demonstrated that the region is high in A-T content, LINEs and MER repeats, whereas Alu elements are reduced. We note an intriguing similarity in repeat sequence composition between FRA3B and a 152 kb segment from the Fragile-X region. We also identified similarity between a FRA3B segment and a small polydispersed circular DNA. In contrast to the selective loss of a tumor suppressor gene, we propose an alternative hypothesis, that some putative targets including FRA3B may undergo loss as a consequence of genomic instability. This instability is not due to DNA mismatch repair deficiency, but may correlate in part with p53 inactivation.

Acid Anhydride Hydrolases↗
PubMed1996

Distinct 3p21.3 deletions in lung cancer and identification of a new human semaphorin.

Loss of chromosome 3p is a critical event in the pathogenesis of lung cancer. Overlapping homozygous 3p21.3 deletions in lung cancer cell lines involving GNAI2 were characterized and found to involve a region of genomic instability. A new widely expressed Semaphorin, H.SemaIV, was isolated from the GNAI2 deletion region. Reduced H.SemaIV expression allowed identification of additional cell lines with submicroscopic or larger deletions of the locus which occurred in a heterogeneous manner. We also demonstrate the presence of a distinct 3p21.3 homozygous deletion region, adjacent to the DNA mismatch repair gene, hMLH1, and identified deletions in direct tumors. This appears to represent one of the first demonstrations of homozygous deletions affecting 3p in direct lung tumors.

Amino Acid Sequence↗
PubMed1996

Major role for a 3p21 region and lack of involvement of the t(3;8) breakpoint region in the development of renal cell carcinoma suggested by loss of heterozygosity analysis.

In a loss of heterozygosity analysis of 3p, we examined 44 sporadic cases of renal cell carcinoma (RCC) and matched normal tissue with 18 markers distributed over the whole p-arm. The majority of these markers clustered in three regions that have been suggested to be involved in the development of RCC, namely the p25 region, where the von Hippel Lindau (VHL) gene is located; the p21 region, which has been identified as a common region of overlap (SRO) of heterozygous deletions; and the p14 region, which is the location of the constitutional t(3;8) breakpoint occurring in an RCC family. Thirty-one out of these 44 tumors were analyzed with 9 additional markers from the 3p12-14 region to further delimit the SRO in this region. Our analysis shows that when deletions were detected the 3p21 region was always included. The 3p21 markers D3F15S2 and UBEIL were always contained within these 3p21 deletions. The t(3;8) breakpoint region showed the lowest percentage of loss of heterozygosity. Moreover, in three cases the t(3;8) breakpoint region retained heterozygosity, whereas a region more proximal to the breakpoint showed allelic losses. This supports exclusion of the t(3;8) region from a role in the development of sporadic RCC. In a number of tumors, two or three 3p regions with allelic losses were present separated by a region of retention of heterozygosity. In these tumors, deletions at 3p21 occurred in combination with deletions of either the VHL region, or the region proximal to the t(3;8), or both, suggestive of multiple gene involvement in the development of sporadic RCC with a primary role of the 3p21 region.

Carcinoma, Renal Cell↗
PubMed1996

White matter magnetic resonance imaging hyperintensity in Alzheimer's disease: correlations with corpus callosum atrophy.

We have previously demonstrated with MRI that as well as marked white matter involvement in late-onset Alzheimer's disease (AD), atrophy of the corpus callosum may also be present. This finding prompted us to study possible correlations between atrophy of the corpus callosum and white matter hyperintensity (WMH) and between white matter lesions and the severity of the disease. We compared the corpus callosum and white matter lesions on MRI from 15 AD patients and 15 controls. The white matter lesions were scored according to the Scheltens' rating scale. We found a significant reduction of the area of the corpus callosum and more severe white matter lesions in AD patients than in controls. Both atrophy of the corpus callosum and the severity of lesions depended mainly on the diagnosis of senile dementia of the Alzheimer type and on age but not on the diagnosis of presenile AD. We demonstrated a negative correlation between white matter lesions scores and areas of corpus callosum in AD patients and no correlation between the white matter lesions and the severity of the disease. We demonstrated that white matter lesions including WMH and atrophy of the corpus callosum are more frequent in AD than in controls. The predominance of white matter lesions in senile AD may be explained by the combination of aging and disease processes.

Aged↗
PubMed1996

Intra-renal Doppler wave-form analysis as a screening test for renal artery stenosis.

A double-blinded trial was performed comparing Doppler interrogation of intra-renal arteries with findings at renal angiography in the assessment of renal artery stenosis. Fifty-three consecutive patients were studied. Previously reported parameters and cut-off values were used for predicting the presence of renal artery stenosis with Doppler. Doppler wave-form analysis proved relatively specific (91%) but insensitive (68%) to the presence of renal artery stenosis (of greater than 60%) if acceleration parameters were used alone. The technique of using a difference in mean resistive indices was found to be both insensitive (61%) and non-specific (54%). Patients with fibromuscular dysplasia, branch vessel stenoses, multiple renal arteries and chronic renal impairment proved to cause the most false negatives. Young patients with normal arteries were the source of the few false positive results. The interrogation of intra-renal arteries does not have appropriate sensitivity to be useful as a screening test for renal artery stenosis.

Adult↗
PubMed1996

Arachnoid granulations in the transverse and sigmoid sinuses: CT, MR, and MR angiographic appearance of a normal anatomic variation.

PURPOSE: To investigate the imaging characteristics, prevalence, and clinical significance of arachnoid granulations in the transverse and sigmoid venous sinuses. METHODS: We reviewed the imaging findings, clinical signs and symptoms, final diagnoses, and follow-up studies of 32 patients with 41 probable arachnoid granulations. RESULTS: On CT scans, arachnoid granulations appear as well-defined filling defects, wholly or partly within a venous sinus, with the same density as cerebrospinal fluid. MR images show these entities as largely isointense with cerebrospinal fluid in all sequences. Linear variations of signal intensity within the granulations are thought to be fibrous septa or vessels. Calcification was present in 3 granulations and altered both CT density and MR signal intensity. The granulations appear as filling defects at MR angiography and at digital subtraction angiography. In some oblique MR angiographic projections, they appear elliptical and could be mistaken for thrombus. No clinical significance could be given to the existence of any of these arachnoid granulations. They occur in 0.3 to 1 of 100 adults in the population. CONCLUSION: Arachnoid granulations in the transverse and sigmoid venous sinuses are common findings seen with thin-section imaging and are usually of no significance.

Adult↗
PubMed1995

YAC contigs covering an 8-megabase region of 3p deleted in the small-cell lung cancer cell line U2020.

Somatic deletions of chromosome 3p occur at high frequencies in cancers of kidney, breast, cervix, head and neck, nasopharynx, and lung. The frequency of 3p deletion in lung cancer approaches 100% among small cell lesions and 70 to 80% in non-small cell lesions. This evidence strongly implies that one or more tumor suppressor genes of potentially widespread significance reside within the deleted region(s). Precise definition of the deleted target region(s) has been difficult due to the extensive area(s) lost and use of markers with low informativeness. However, improved definition remains essential to permit isolation of putative tumor suppressor genes from 3p. The identification of several small, homozygous 3p deletions in lung cancer cell lines has provided a critical resource that will assist this search. The U2020 cell line contains a small homozygous deletion that maps to a very proximal region of 3p and includes the marker D3S3. We previously identified a subset of DNA markers located within the deleted region and determined their relative order by pulsed-field gel mapping studies. In the present report, we describe the development of YAC contigs that span the majority of the deleted region and link up to flanking markers on both sides. The centromere proximal portion of the contig crosses the breakpoint from an X;3 translocation located within 3p12 providing both location and orientation to the map. PCR-based (CA)n microsatellite polymorphisms have been localized within and flanking the deletion region. These markers should greatly facilitate loss-of-heterozygosity studies of this region in human cancer. The contig provides a direct means for isolation of putative tumor suppressor genes from this segment of 3p.

Base Sequence↗
PubMed1995

Ictal ECG changes in temporal lobe epilepsy.

Changes in cardiac rhythm may occur during epileptic seizures and this has been suggested as a possible mechanism for sudden unexpected death amongst patients with chronic epilepsy (SUDEP). We have studied ECG changes during 61 complex partial seizures of temporal lobe origin in 20 patients. Tachycardia was observed in 24/61 (39%) and bradycardia in 3/61 (5%). The mean and median tachycardia rate was 139 and 140 beats/min (range 120-180). The longest R-R interval observed was 9 seconds. No difference was found in regard to the lateralisation of seizures and cardiac arrhytmia. One of the patients with bradycardia was fitted with a demand cardiac pacemaker, which appeared to decrease the number of his falls. In conclusion, ictal cardiac changes which may be seen in temporal lobe epilepsy (TLE) are sinus tachycardia and occasionally sinus bradycardia. Patients presenting vague complains suggestive of either TLE or cardiac dysrhythmia, simultaneous monitoring with EEG/ECG is required, and if the episodes are frequent, video-EEG should be considered. Further studies on this subject are warranted as this may shed some light on possible mechanisms for SUDEP.

Adolescent↗
PubMed1995

In vitro susceptibility of Plasmodium falciparum to chloroquine, amodiaquine, quinine, mefloquine, and sulfadoxine/pyrimethamine in Equatorial Guinea.

Between March 1990 and June 1992, a study was carried out in Equatorial Guinea on the in vitro response of Plasmodium falciparum to different antimalarial drugs. Field work for the study was conducted both in the country's island region as well as on the mainland, and resistant isolates were found to exhibit interregional differences. On the island of Bioko, 204 tests were performed with 16% (11 of 69) resistant to chloroquine, 9% (4 of 46) resistant to quinine, 14% (6 of 43) resistant to a combination of sulfadoxine/pyrimethamine, and 6.5% (3 of 46) resistant to amodiaquine. In the mainland area of Bata, the same antimalarial drugs and mefloquine were tested with the following results: 9% (5 of 58) resistant to chloroquine; 2% (1 of 58) resistant to amodiaquine, and 3% (2 of 58) resistant to a combination of sulfadoxine/pyrimethamine. No isolates resistant to quinine or mefloquine were found. Effective concentrations (EC50, EC90, and EC99) and regression lines (log dose/response) for each antimalarial drug were calculated to establish a surveillance system for antimalarial drug chemosensitivity in Equatorial Guinea. Finally, 12 isolates from 12 patients previously treated with chloroquine were studied to compare both tests (in vivo-in vitro) and obtain a correlation between the RII and RIII types of in vivo and in vitro resistances. No correlation for the RI type was found between the two methods.

Amodiaquine↗
PubMed1994

Reappraisal of duplex criteria to assess significant carotid stenosis with special reference to reports from the North American Symptomatic Carotid Endarterectomy Trial and the European Carotid Surgery Trial.

PURPOSE: Duplex examination is today the principal initial method of assessing extracranial carotid or vertebral artery disease. However, varying haemodynamic criteria have been described to categorize the degree of internal carotid artery stenosis, and similarly the degree of stenosis detected with angiography has been assessed with different methods as highlighted in studies performed by the North American Symptomatic Carotid Endarterectomy Trial and the European Carotid Surgery Trial. This study looks at the correlation between two commonly used methods of assessing carotid artery stenosis with duplex criteria and the two methods of angiographic interpretation used in these trials. Duplex parameters are also identified to determine the greater than 70% stenosis group identified as at risk in these studies. METHODS: A total of 120 carotid bifurcations were studied in patients who underwent both carotid duplex and angiography. Correlations of duplex with angiography were assessed with duplex criteria described by Zwiebel and by Strandness and the angiographic methods used in studies performed by the North American Symptomatic Carotid Endarterectomy Trial and the European Carotid Surgery Trial. Receiver operator curves were constructed from the duplex data for the detection of stenosis greater than 70% based on the angiographic assessment used in the study performed by the North American Symptomatic Carotid Endarterectomy Trial. RESULTS: The duplex criteria described by Zwiebel and Strandness differed in their accuracy depending on which of the two methods was used to report the angiograms. Zwiebel's criteria agreed more with the angiographic method used in the study performed by the European Carotid Surgery Trial (sensitivity 98%, specificity 81%, accuracy 88%), whereas Strandness' criteria agreed more with the angiographic method used in the study performed by the North American Symptomatic Carotid Endarterectomy Trial (sensitivity 96%, specificity 85%, accuracy 89%). For the detection of a stenosis greater than 70%, a peak systolic velocity greater than 270 cm/sec and end diastolic velocity greater than 110 cm/sec provided a sensitivity of 96%, specificity of 91%, and accuracy of 93%. CONCLUSIONS: The accuracy of duplex studies compared with angiography in the assessment of extracranial vascular disease depends on the method of angiographic determination of carotid stenosis. Vascular laboratories should validate the duplex criteria they use against a standard method of angiographic assessment of carotid artery stenosis, with special reference to the recently reported studies noting the significance of a stenosis greater than 70% in patients with symptoms.

Blood Flow Velocity↗
PubMed1994

Application and evaluation of QBC malaria diagnosis in a holoendemic area.

Quantitative Buffy Coat Analysis was used in practical diagnosis situations. In the first place, sensitivity and specificity was measured in an active search survey (720 schoolchildren under 10 years of age, in nine field trips) under unfavourable laboratory conditions (onsite school diagnosis being conducted with electricity supplied by a diesel-powered generator). In this group, the QBC-based study revealed sensitivity and specificity ratings of 99.6% and 81.7% respectively. QBC proved 5.5% more sensitive than the thick-film method, but specificity was greater with the latter. QBC returned good results when used in adverse situations, viz., in the absence of air conditioning and with a diesel generator as the only power supply. QBC was used in a passive search survey (hospital group, 618 children) under good laboratory conditions (air conditioning) with patients enrolled in a trial to measure resistance to antimalarial drugs. In this survey we targeted at assessing the efficacy of chloroquine treatment at dose of 25 mg/kg/3 days. QBC proved more sensitive than the thick-film method, detecting - on day 14 of the in vivo test - low parasitaemias that had gone undetected by thick film. Lastly, this study reports on the conversion of QBC readings (parasitaemia per field) into thick-field terms (number of parasites per microliter of blood), with the aim of measuring the degree of recurring parasitaemia.

Acridine Orange↗