Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation

We describe a female stillbirth with duplication of 3q21-->qter and deletion of 11q23-->qter resulting from an unbalanced segregation of a maternal t(3;11) reciprocal translocation. The proband had some of the clinical features consistent with those seen in patients with dup(3q) syndrome or distal del(11q) syndrome. Prenatal sonographic examination showed short limbs, intrauterine growth retardation, and an omphalocele containing the liver.     

Ethane dimethane sulfonate and NNN'N'-tetrakis-(2-pyridylmethyl)ethylenediamine inhibit steroidogenic acute regulatory (StAR) protein expression in MA-10 Leydig cells and rat Sertoli cells

Apoptosis inhibits steroid biosynthesis, but it is not clear how the Steroidogenic Acute Regulatory (StAR) protein, is affected. To characterize StAR expression during apoptosis, mouse MA-10 Leydig tumor cells were treated with ethane dimethane sulfonate (EDS), an inducer of apoptosis, and the metal ion chelator NNN'N'-tetrakis-(2-pyridylmethyl)ethylenediamine (TPEN), an inducer of cell death. Both chemicals induced cell death and similarly inhibited dbcAMP-stimulated steroidogenesis and accumulation of the 30 kDa form of StAR. Utilizing the dye JC-1, it was found that TPEN and EDS also impaired the mitochondrial electrochemical potential (delta psi). In Sertoli cells, which also express StAR, EDS induced cell death and attenuated StAR expression. We conclude 1) steroidogenesis and accumulation of mature StAR protein are inhibited as a consequence of the induction of apoptosis; 2) reduced levels of StAR may be partially attributed to inhibition of import because of the loss of delta psi; 3) loss of steroidogenesis is probably due to loss of StAR synthesis and disruption of delta psi.     

Micromechanical properties of epiphyseal trabecular bone and primary spongiosa around the physis: an in situ nanoindentation study

The application of amyloid beta-peptide (Abeta) 1-40 (10 microM) caused neurodegeneration of hippocampal neuronal cells, as indicated by the release of lactate dehydrogenase (LDH) into the culture medium. Treatment with idebenone (10-1000 nM), a potent antioxidant in mitochondria, protected the hippocampal neurons against the Abeta1-40(10 microM)-induced neurotoxicity. To determine the morphological change in neurons during the Abeta1-40-induced cytotoxicity, the cells were immunostained with anti-MAP2 antibodies. After 4-day exposure to 10 microM Abeta1-40, the number of neurons was reduced, and the surviving neurons had an apparently reduced number of neurites which were shorter than those of control neurons. When idebenone was added to the culture medium with Abeta1-40, the number of surviving neurons was significantly increased, and their neurites were as long as seen in control culture. These results suggest that reactive oxygen species mediate neurotoxicity of Abeta1-40, and idebenone protects neurons against the Abeta1-40-induced neurotoxicity.     

Early mortality after surgical repair of postinfarction ventricular septal rupture: importance of rupture location

BACKGROUND: The aim of this study was to identify factors influencing early outcome after surgical treatment of postinfarction ventricular septal rupture. We investigated the influence of proximal or distal rupture location. METHODS: Between 1980 and 1992 109 patients were treated surgically for ventricular septal rupture using a standardized technique. A division in time periods was made. The rupture was categorized according to its anterior or posterior site and proximal or distal location. RESULTS: The 30-day mortality rate was 27.5%. Multivariate logistic regression analysis identified preoperative shock (p = 0.0007) and right atrial oxygen saturation less than 60% (p = 0.021) as predictors for early death; the risk for early death declined over the time periods from 50% to 12.8% (p = 0.0007). Proximal ventricular septal rupture location (p = 0.0092) and interval between infarction and ventricular septal rupture less then 1 day (p = 0.034) were risk factors for the occurrence of preoperative shock. CONCLUSIONS: Proximal ventricular septal rupture location was the main determinant of preoperative cardiogenic shock, which in turn was the strongest predictor of early mortality. Over the time periods a decrease in early mortality was reached.     

Prevalence of fibromyalgia in children: a clinical study of Mexican children

OBJECTIVE: To determine the prevalence of fibromyalgia (FM) in schoolchildren according to the 2 stage classification process proposed by the 1990 American College of Rheumatology (ACR) Multicenter Criteria Committee on Fibromyalgia. METHODS: Stage 1: we administered a pain questionnaire to a sample of 548 schoolchildren (264 boys, 284 girls; mean age 11.9 yrs, range 9-15). Stage 2: two rheumatologists examined all children with diffuse pain. Using thumb palpation, they examined 18 fibromyalgia tender points and 3 pairs of controls points followed by dolorimetry. Additionally, a random sample of 79 children with no pain were selected as controls, following the same procedures (thumb palpation and dolorimetry). The Wilcoxon test was used to compare the distribution of tenderness thresholds between FM and non-FM groups. Kappa statistics for multiple raters was used to assess interobserver agreement. RESULTS: Seven children, all girls, fulfilled the ACR diagnostic criteria for FM. Thus, the prevalence of FM in this group of schoolchildren reached only 1.2%. The girls with FM had a mean of 14 tender points, whereas controls (n = 79) had 2.4. Pain thresholds were 3.4 kg in children with FM and 5.1 kg in controls (p = 0.004). CONCLUSION: The prevalence of FM in our study was 5-fold lower than a previous report. This variance may be due to (1) racial and sociocultural differences between populations; and (2) differences in methodological approach. The difficulties of making accurate estimates of FM across different studies are highlighted.     

Müllerianosis of the urinary bladder: clinical and immunohistochemical findings

BACKGROUND: Intranasal desmopressin has been used extensively to treat primary nocturnal enuresis. While it has proven to be a safe, effective agent for many who are affected by this condition, the potential for complications exists. OBJECTIVES: To report a case of severe hyponatremia associated with a generalized tonic-clonic seizure in a 10-year-old boy who had been receiving intranasal desmopressin nightly for nocturnal enuresis and to briefly review therapeutic options for nocturnal enuresis; and to present the role of desmopressin. SETTING: Georgetown University Medical Center, Washington, DC. INTERVENTION: Fluid restriction and intravenous isotonic saline solution with 5% dextrose was administered to raise the serum sodium level. OUTCOME: Prevention of further seizures with normalization of serum sodium levels without any obvious neurological sequelae. CONCLUSIONS: This case illustrates the importance of weighing the benefits and risks of intranasal desmopressin therapy.     

Tumor necrosis factor-alpha enhances antitumor effects of radiation against glioma xenografts

Benzodiazepine discontinuation is characterized by a syndrome of increased activity and reduced seizure threshold that is similar to effects mediated by the glutamatergic system. To elucidate the involvement of the glutamatergic system in benzodiazepine tolerance and discontinuation, we administered lorazepam, the NMDA antagonist CPP, and the combination of these compounds either concomitantly or consecutively to mice via osmotic pumps and evaluated pentylenetetrazole-induced seizure threshold, open-field activity, and benzodiazepine receptor binding during and after chronic administration. Animals receiving lorazepam alone developed partial tolerance at 7 days and complete tolerance at 14 days to the anticonvulsant effects of lorazepam. This effect was partly attenuated by CPP coadministration with lorazepam. This combination produced only partial tolerance. A reduction in seizure threshold was observed 4 days after discontinuation of lorazepam alone. This effect was abolished by coadministration of CPP with lorazepam and by CPP administration during the withdrawal period. Benzodiazepine binding in most structures examined was significantly reduced at 14 days during chronic lorazepam administration (versus 1 day), and coadministration of CPP did not alter this decrement. After lorazepam discontinuation, binding was increased at 4 and 7 days versus chronically treated animals and versus vehicle within the cerebral cortex. This effect was abolished by coadministration of CPP as well as by CPP administration during the lorazepam withdrawal period. These data support the involvement of the glutamatergic system in benzodiazepine tolerance and discontinuation.