De novo partial duplication of chromosome 7p in a male with autistic disorder.

We describe a de novo partial duplication of 7p in a 25-year-old male with autistic disorder (AD). High-resolution chromosome analysis revealed an extra segment added to the proximal short arm of chromosome 7. The G-band pattern was consistent with an inverted duplication of 7p11.2-p14.1. Fluorescent in situ hybridization (FISH), using a whole chromosome 7 DNA probe (Cytocell, Inc., UK), confirmed that the extra chromosome material is derived from chromosome 7, indicating that the patient is partially trisomic for a region of the short arm of chromosome 7. Partial duplication of the short arm of chromosome 7 is uncommon with little more than 30 cases in the literature. This is the first report of an individual with a 7p duplication who also has AD.

A spectrophotometric method for the determination of hydroperoxides in liposomes.

A modification of the Asakawa-Matsushita iodometric assay method for the determination of the content of lipid hydroperoxides was developed which permits the simultaneous processing of many samples of high lipid content. The method has the advantages of simplicity as well as good reproducibility, so it is not necessary to process standards with each determination. Our technique exceeds the sensitivity attained with other spectrophotometric determinations reported in the literature. The method requires the total elimination of water from the samples, and this was accomplished using an azeotropic mixture of ethanol:water of 96:4. The results obtained with liposomes indicate that the method is applicable to biological material limited to small volume samples, ranging 5-50 microliters. We want to emphasize that this method permits the study of the peroxidation process as function of time.

Oxidative damage, plasma antioxidant capacity, and glucemic control in elderly NIDDM patients.

A study of oxidative damage was made in elderly noninsulin-dependent diabetes mellitus (NIDDM) patients. A statistically significant increase in glucose and fructosamine was found in fasting NIDDM patients, as well as an increase in the oxidation induced by tert-butyl hydroperoxide. The Total Reactive Antioxidant Potential (TRAP) of the plasma was much reduced (p < .02) and the uricemia was unchanged. The erythrocytes of diabetic patients show greater basal oxidation products (p < .05), and the susceptibility of the diabetic erythrocytes to oxidation injury was also shown to increase in the oxidation induced by t-BOOH (p < .05). Linear regression studies showed that TRAP was associated directly with uric acid (p < .05) and inversely with fructosamine and with glucose (p < .03 and p < .05 respectively) in patients with NIDDM, but not in the controls. The levels of fructosamine were found to be related to the basal damage of the red blood cells (direct correlation, p < .001). This study suggest an useful approach to diabetic oxidative stress for clinical settings.

Oxidative stress and membrane fluidity in erythrocytes from patients with hemolytic uremic syndrome.

In order to investigate the implications of oxidative disturbances in the hemolysis associated with the Hemolytic Uremic Syndrome (HUS), basal levels of lipid peroxidation products, the response to t-butyl hydroperoxide induced damage and membrane fluidity were assayed by the technique of electron spin resonance in erythrocytes spin labeled with 5-Doxyl stearic acid obtained from eight children with HUS, during the 1st, 2nd, 4th and 12th weeks after diagnosis. During the acute phase of the disease, red blood cells (RBC) showed increased initial lipid peroxidation products, a higher susceptibility to oxidative insult and a lower membrane fluidity. All parameters reached control values the 12th week after diagnosis. The results suggest that in the acute phase of HUS, RBCs are exposed to an oxidative imbalance that could contribute to hemolysis directly through oxidative damage and/or by decreasing membrane fluidity.

Prostaglandin E2 induction of abortion and fetal demise.

Prostaglandin E2 (PGE2) suppositories have been shown to be active contractile agents and are effective in uterine evacuation for mid-trimester abortion or fetal demise. In this study, 85 patients were treated with vaginal PGE2 suppositories. When laminaria were used in patients with closed cervices, and compared to those who had minimal cervical dilatation, there was no difference in the time from induction to expulsion. Ninety-three percent of the 85 patients aborted successfully within 24 h. In each of the seven "failures", three or less suppositories were used prior to a dilatation and evacuation procedure. In this study, 81% of the abortions were complete, and in one-third of the remaining patients dilatation and curettage was performed just after delivery of the fetus. The incidence of minor side-effects ranged from 12 to 21%, and there were no major complications. It is concluded that the use of vaginal prostaglandin E2 suppositories for induction of mid-trimester abortion or fetal demise in the third trimester is safe and effective.

PIP: Prostaglandin (PG) E2 suppositories have been shown to be effective in uterine evacuation for mid-trimester abortion. At the University of Mississippi Medical Center, vaginal PGE2 suppositories have been used routinely to effect termination of pregnancies following fetal death at any age and in the majority of therapeutic abortions performed at over 14 weeks' gestation. This study evaluated the results of PGE2 treatment in 85 patients seen at the center during an 18-month period, the majority (65%) of whom were delivered because of fetal death. Prior to the procedure, 55% of these patients had a closed cervix and laminarias were inserted. The average time from induction with PGE2 to expulsion of the fetus was 9.3 hours (range, 1.4-23.2 hours), with no significant difference between the groups with and without laminaria unless the cervix was dilated more than 2 cm at the time of admission. 94% of study subjects required 3 or fewer suppositories to effect delivery. Of the 85 patients, 78 (91%) aborted successfully within 24 hours. There were no major complications; the incidence of minor side effects ranged from 12% (for diarrhea) to 21% (for hyperpyrexia). Overall, these findings suggest that medical induction using prostaglandins is a safe, convenient method of evacuating the uterus, particularly in the case of fetal death after 20 weeks. The minor side effects such as nausea and vomiting, fever, diarrhea, headache, and chills can be reduced when patients are premedicated with anti-emetics and antidiarrheal preparations. Moreover, these side effects may be further decreased by the use of newer compounds, such as the 15-methylated prostaglandins, that are believed to induce less reaction in the gastrointestinal tract.