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Biomedical subjects

M Oto

Publications and source records attributed to M Oto.

At least 19 recordsLinked to original sources

The safety of antiepileptic drug withdrawal in patients with non-epileptic seizures.

BACKGROUND: To determine whether withdrawal of anticonvulsant drugs (AED) can be carried out safely in patients with non-epileptic seizures (NES). METHODS: Prospective evaluation of safety and outcome in 78 patients with NES who satisfied a standardised set of criteria for excluding the diagnosis of coexisting or underlying epilepsy. FINDINGS: The patients were taking from one to three AED. Sixty four patients were withdrawn as outpatients, 14 as inpatients. Five patients stopped their drugs abruptly, and two had AED restarted and had to be withdrawn again. Otherwise all patients adhered to withdrawal schedules. A new type of attack in addition to NES was seen in three patients (complex partial seizures in all three cases). NES frequency declined in the group as a whole over the period of the study (follow up 6-12 months) in all individuals except for eight patients in whom there was a transient increase. Fourteen patients reported new physical symptoms after withdrawal; however, no serious adverse events were reported. CONCLUSIONS: With appropriate diagnostic investigation and surveillance during follow up withdrawal of AED can be achieved safely in patients with NES.

Adult↗

Gender differences in psychogenic non-epileptic seizures.

PURPOSE: To determine whether male and female populations of patients with psychogenic non-epileptic seizures (PNES) are similar, in terms of demographic and social factors, aetiological factors, the clinical characteristics of events and path to diagnosis. METHODS: Prospective study by semi-structured interview of 160 consecutive patients (117 female and 43 male) with video EEG confirmed diagnosis of PNES + epileptic seizures (ES). RESULTS: Most parameters showed no significant differences. Males were, however, more likely to be unemployed (P = 0.028), and females were six times more likely to self-harm (P = 0.050), though the numbers were small in these categories. Men were more likely to attribute their PNES to a predisposing factor for epilepsy (P = 0.001), and women were over eight times more likely to report sexual abuse (P = 0.001). Event semiology was similar, but women were more likely to weep after events (P = 0.017). The carers and family of men with PNES were three times less likely to accept the diagnosis of PNES (P = 0.017). CONCLUSIONS: Our samples showed few significant gender differences, suggesting that other male and female populations of patients with PNES are likely to be similar also. Some of the differences we found may give insight into causation of PNES.

Adult↗

Pseudosleep events in patients with psychogenic non-epileptic seizures: prevalence and associations.

OBJECTIVES: To determine the prevalence and clinical associations of a history of events during sleep in patients with psychogenic non-epileptic seizures (PNES, pseudoseizures), and to compare the prevalence of a history of sleep events with that in poorly controlled epilepsy. METHODS: Prospective study by semistructured interview of the history of event patterns and their clinical associations in 142 patients with video EEG confirmed PNES, and 100 patients with poorly controlled epilepsy. RESULTS: 84/142 patients with PNES (59%) and 47/100 with epilepsy (47%) gave a history of events during sleep (p = 0.062). In patients with PNES, significant associations were found between a history of sleep events and: convulsive clinical semiology, antiepileptic drug treatment, fatigue, suicide attempts, mood disorder, and physical abuse. A particularly strong association with social security benefit was also found (odds ratio 4.0, p<0.001). CONCLUSIONS: The prevalence of a history of sleep events is similar in PNES and epilepsy, and is of no value in discriminating between the two, although a history of events occurring exclusively during sleep does suggest epileptic seizures. The clinical associations found indicate that a combination of psychopathological and external influences may be important in determining whether or not a patient with PNES gives a history of events during sleep.

Adolescent↗

Use of short term video EEG in the diagnosis of attack disorders.

BACKGROUND: Distinguishing epileptic from psychogenic non-epileptic seizures (PNES) often requires video electroencephalography (EEG) recording. Inpatient recording is a limited resource; some evidence suggests that short term video EEG (SVEEG) is useful, but its role in practice has yet to be evaluated. OBJECTIVE: To assess the usefulness of SVEEG in the diagnosis of attack disorders. METHODS: One hundred and forty three SVEEG recordings were performed during an 18 month period. RESULTS: A diagnostic event was recorded in 72 of 143 (50.3%): PNES (n = 51), epilepsy (n = 7), or other attacks, such as movement disorders (n = 14). CONCLUSIONS: SVEEG is a robust and useful diagnostic technique, which complements existing resources.

Adolescent↗

Outpatient video EEG recording in the diagnosis of non-epileptic seizures: a randomised controlled trial of simple suggestion techniques.

OBJECTIVE: To assess the yield of recorded habitual non-epileptic seizures during outpatient video EEG, using simple suggestion techniques based on hyperventilation and photic stimulation. DESIGN: Randomised controlled trial of "suggestion" v "no suggestion" during outpatient video EEG recording. SETTING: Regional epilepsy service (tertiary care; single centre). PARTICIPANTS: 30 patients (22 female, 8 male), aged over 16 years, with a probable clinical diagnosis of non-epileptic seizures; 15 were randomised to each group. MAIN OUTCOME MEASURES: Yield of habitual non-epileptic seizures recorded, and requirement for additional inpatient video EEG. RESULTS: 10/15 patients had habitual non-epileptic seizures with suggestion; 5/15 had non-epileptic seizures with no suggestion (p = 0.058; NS); 8/9 patients with a history of previous events in medical settings had non-epileptic seizures recorded during study. Logistic regression analysis with an interaction clause showed a significant effect of suggestion in patients with a history of previous events in medical settings (p = 0.003). An additional inpatient video-EEG was avoided in 14 of the 30 patients (47%). CONCLUSIONS: Habitual non-epileptic seizures can be recorded reliably during short outpatient video EEG in selected patients. Simple (non-invasive) suggestion techniques increase the yield at least in the subgroup with a history of previous events in medical settings. Inpatient video EEG can be avoided in some patients.

Adult↗

Analysis of a polyadenine tract of the transforming growth factor-beta type II receptor gene in colorectal cancers by non-gel-sieving capillary electrophoresis.

We developed a method to analyze a polyadenine tract, the (A)10 repeat, within the cysteine-rich domain of the transforming growth factor-beta (TGF-beta) type II receptor gene using a non-gel-sieving capillary electrophoresis technique and applied it to the DNA diagnosis of colorectal cancers. This method consists of single-strand DNA amplification of the (A)10 repeat by an asymmetric PCR technique and capillary electrophoresis. A higher concentration of dATP in the PCR reaction mixture led to more specific amplification of the (A)10 repeat. Under the optimal electrophoretic conditions, one nucleotide difference could be determined in 8 to 32 nucleotides. One or two base deletions of the (A)10 repeat in colorectal cancers could be detected under these conditions within 30 min, and the results coincided with those obtained on DNA sequencing analyses. According to a sensitivity study, we could detect the deleted sequence if it was present in 12.5% or more of the wild-type allele. The reproducibility of this technique was satisfactory because the intraassay imprecision (CV) (n = 10) was 1.4%. These results indicate that capillary electrophoretic analysis of small repeated sequences results in easier handling and more feasible automation, compared with conventional gel electrophoretic analysis.

Autoanalysis↗

Point mutations and allelic deletion of tumor suppressor gene DCC in human esophageal squamous cell carcinomas and their relation to metastasis.

Since tumor suppressor gene DCC exhibits amino acid sequence homology to the neural cell adhesion molecule, there is a possibility that DCC might be related to tumor metastasis. In the present study, we examined 51 cases of primary esophageal carcinomas with regard to point mutations and loss of the DCC gene. We detected point mutations in two cases by screening using polymerase chain reaction-single strand conformation polymorphism analysis. When we determined the sequences, one case with lymph node metastasis showed an ATG (Met) to ACG (Thr) missense mutation in codon 168. Another case showed a CGA (Arg) to GGA (Gly) mutation in codon 201, which might be a polymorphic change, and two other mutations resulting in no amino acid change. We also examined loss of heterozygosity of the DCC gene. Forty-four of the 51 cases (86%) were informative, and among them 10 cases (23%) showed allelic deletion. The further away the lymph node metastasis was from the primary tumor, the higher the frequency of allelic deletions became. We also found allelic deletions in moderately and poorly differentiated squamous cell carcinomas but not in well differentiated ones. These results indicate that alterations of the DCC gene are related to the degree of lymph node metastasis and the degree of differentiation.

Alleles↗

DNA alterations in cells from hereditary non-polyposis colorectal cancer patients.

To determine if the MCC, DCC or p53 gene is associated with susceptibility to hereditary non-polyposis colorectal cancer (HNPCC), these genes in normal cells from 12 HNPCC patients were analysed by polymerase chain reaction-single strand conformation polymorphism analysis. No changes which may alter the amino acid sequences of these genes were detected, suggesting that these genes are not associated with the susceptibility to HNPCC. Only one of nine HNPCC cancers showed mutations in the MCC and p53 genes on the same analysis. Loss of heterozygosity in chromosomes 5q, 17p, 18q and 22 was detected in four of the nine cancers, all of them being positive as to metastasis to lymph nodes. Abnormalities of the (CA)n repeat were found in six cancers, including all four without metastasis. These data indicate that tumor suppressor genes in chromosomes 5q, 17p, 18q and 22 are associated with the late stage of colorectal tumorigenesis in HNPCC, whereas the (CA)n repeat abnormalities are an early event of tumorigenesis and more essential to HNPCC.

Adult↗

Optimization of nonradioisotopic single strand conformation polymorphism analysis with a conventional minislab gel electrophoresis apparatus.

We have developed a means of nonradioisotopic single strand conformation polymorphism (nonRI-SSCP) analysis and applied it to the detection of a point mutation in the human tumor suppressor gene, p53. The method does not require any particular facilities or apparatus, such as a laboratory for radioactive materials, a large gel unit for sequencing, or a semiautomated electrophoresis system. This technique comprises amplification of DNA fragments by the PCR technique with specific oligonucleotide primers, denaturation, and electrophoresis on neutral polyacrylamide gels in a conventional minislab apparatus. The SSCP patterns on electrophoresis were detected with a commercially available silver stain method. We also evaluated various electrophoretic conditions for nonRI-SSCP analysis, such as the gel concentration and buffer components. A tris/glycine buffer system gave better resolution of SSCP bands. The SSCP patterns of different sized DNAs could be analyzed in a gradient polyacrylamide gel. Thus, nonRI-SSCP analysis with a conventional minislab gel electrophoresis apparatus can be satisfactorily substituted for a commonly used RI-SSCP technique.

Base Sequence↗

Higher frequency of point mutations in the c-K-ras 2 gene in human colorectal adenomas with severe atypia than in carcinomas.

Human colorectal carcinomas may be induced from adenomas or they may occur de novo. To examine which is the main pathway, we analyzed point mutations at codon 12 in the c-K-ras 2 gene in 73 colorectal carcinomas, 13 metastatic tumors, 72 adenomas and 30 normal tissues. The c-K-ras 2 codon 12 mutation frequency was 0/30 in normal tissues, 0/17 in adenomas with mild atypia, 3/37 (8.1%) in adenomas with moderate atypia, 15/18 (83.3%) in adenomas with severe atypia, 19/73 (26.0%) in primary carcinomas and 3/13 (23.1%) in metastatic tumors. The mutation frequency in adenomas with severe atypia was much higher than that in carcinomas. These results indicate that many colorectal carcinomas may not be induced through adenomas with severe atypia.

Adenoma↗