Biomedical subjects

J Kokoszka

Publications and source records attributed to J Kokoszka.

11 recordsLinked to original sources

PubMed2000

Mitochondrial DNA sequence diversity in bipolar affective disorder.

OBJECTIVE: Point mutations in mitochondrial DNA (mtDNA) are one mechanism that could explain the apparent excess maternal transmission of bipolar affective disorder observed in some families. The authors sequenced the mtDNA from probands with bipolar disorder and tested nucleotide variants for association with the disorder. METHOD: The entire 16.5 kilobase mitochondrial genome was sequenced in nine unrelated probands selected from large pedigrees with exclusively maternal transmission of bipolar affective disorder. Compared to a reference sequence, variants were detected at 107 nucleotide positions. Fifteen variants of possible pathogenic significance were selected for further study. These variants were assayed in 93 unrelated probands with bipolar I, bipolar II, or schizoaffective-manic disorder and 63 comparison subjects, all of whom were classified into the major groups comprising the European mtDNA haplotype structure (haplogroups). RESULTS: The major European haplogroups were represented at the expected frequencies among both probands and comparison subjects. There was no significant difference between probands and comparison subjects in the frequency of any variant, although odds ratios >2 or <0.5 were observed for four variants. Frequencies of these four variants were similar in probands and haplogroup-matched comparison subjects. The results of all comparisons were essentially unchanged when probands from families with an apparently paternal transmission pattern were excluded. CONCLUSIONS: The results demonstrate that bipolar affective disorder occurs across all of the major European mtDNA haplogroups but do not reveal any point mutations that explain excess maternal transmission of the disorder.

Adolescent↗

PubMed1994

Treatment of fecal impaction with pulsed irrigation enhanced evacuation.

PURPOSE: A new method of treating fecal impaction is described, selecting patients that would otherwise have required operative disimpaction. METHOD: Using the pulsed irrigation enhanced evacuation device, individuals were selected for treatment based on evidence of massive fecal impaction on physical examination or abdominal x-ray. RESULTS: Fourteen individuals were treated for fecal impaction. The patients ranged in age from 13 to 86 years. Only one patient required intravenous sedation, an elderly patient with Alzheimer's disease. The treatment was successful in each case, although repeated treatment was often necessary. No morbidity arose from the treatment. By the midpoint in our study, because of the success of this treatment, no patient required hospitalization for impaction. CONCLUSION: Pulsed irrigation enhanced evacuation has been in our experience a simple, quick, and effective treatment for severe fecal impaction.

Adolescent↗

PubMed1993

Latex anaphylaxis.

BACKGROUND: Unexplained vascular collapse, airway obstruction, shock, and death after procedures as innocuous as barium enema or anorectal manometry have recently been shown to be due to allergy to latex and anaphylactoid reaction. METHOD: To review existing medical literature on latex anaphylaxis and to determine who is most at risk and what methods might best prevent morbidity from this condition. RESULTS: Those most at risk for this catastrophe are patients whose mucous membranes have been extensively exposed to latex, such as patients with spina bifida who frequently undergo urethral catheterization and individuals who have had many previous operative procedures: CONCLUSIONS: Avoidance of latex exposure is the best prophylaxis in high-risk groups. Prompt resuscitation is critical once the syndrome becomes clinically apparent.

Anaphylaxis↗

PubMed1993

Determination of inflammatory bowel disease activity by breath pentane analysis.

PURPOSE: Quantitative determination of breath pentane, an alkane generated by peroxidation of cellular fatty acids, has been used as a noninvasive determinant of inflammation. Herein we report the first examination of the relationship between breath pentane and intestinal inflammation in humans. METHODS: Patients (N = 33), either with a known history of inflammatory bowel disease (IBD) with symptoms of relapse or with no known history of but having symptoms consistent with IBD, were evaluated with indium-111-labeled leukocyte imaging to assess the presence of active inflammation. At the time of the indium scan, the exhaled breath of the patients was obtained via a collecting tube. Gas chromatography was used to quantify the pentane content, and these values were compared with graded indium scans. RESULTS: The range of breath pentane found in our population (36 determinations in 33 patients) was from 0 to 38.4 nmol/l of exhaled air. For patients with negative scans, the mean pentane was 2.1 nmol/l, for intermediate scans 3.1, for positive scans 4.3, and for nonintestinal nuclide imaging 5.5 [P = 0.005 by analysis of variance (ANOVA)]. CONCLUSIONS: We have previously demonstrated the correlation of breath pentane with gross and histologic evidence of intestinal inflammation in a rodent colitis model. This current study also demonstrates that pentane analysis can be correlated with inflammatory bowel disease activity in humans.

Adult↗

PubMed1991