Infantile autism—fragile X: Molecular findings support genetic heterogeneity

Twenty-two members of 18 families with autism have been examined for the presence of mutations and abnormal methylation in the FMR-1 region at Xq27.3. All patients fulfilled diagnostic criteria of infantile autism. A characteristic pattern of insertion and methylation were detected after Southern blot analysis in 7 autistic individuals expressing the fragile site at Xq27.3. Normal DNA patterns were observed in 15 autistic boys cytogenetically negative for the fragile site. The results indicate a lack of involvement of the FMR-1 region in infantile autists negative for fragile X expression. © 1992 Wiley-Liss, Inc.     

Ultrasound-Guided Interstitial Brachytherapy in the Treatment of Advanced Vaginal Recurrences from Cervical and Endometrial Carcinoma

BACKGROUND: In advanced vaginal recurrences of cervical and endometrial carcinomas therapeutic options are rare because of preceding therapy. PATIENTS AND METHODS: 23 patients developing advanced vaginal recurrences of cervical and endometrial carcinomas were included. 15 patients started with external-beam therapy to the pelvis and eight patients after preceding radiotherapy underwent brachytherapy alone. All patients had ultrasound-guided implantation of transvaginal or transperineal interstitial needles for brachytherapy. Median prescribed total dose was 64 Gy. RESULTS: 18 patients (78%) achieved complete remission. Six patients are alive without tumor and one with tumor after a median follow-up of 64 months. 14 patients died of tumor and two of intercurrent disease. 5-year disease-specific survival and local control rate were 43% and 47%, respectively, in patients with complete remission. Univariate analysis found time to relapse > 2 years, initial diameter < or = 4 cm, initial volume < 15 cm(3), no extension to the pelvic side wall, volume before brachytherapy < 7.5 cm(3), brachytherapy coverage index > 0.8, and prescribed total dose > 64 Gy being positive predictors for local control and survival. CONCLUSION: The use of ultrasound guidance for placement of interstitial needles in template-based brachytherapy of advanced recurrent gynecologic malignancies is a feasible, safe, and cheap method with encouraging results. Today, ultrasound imaging can be also used to some extent for treatment planning which requires further development. Patient- and treatment-related prognostic factors can be defined.     

The telephone survey: a methodological strategy for obtaining information

Studies have shown that students and the general population have little knowledge about nursing schools and the nursing profession. This study investigates the extent to which a sample of the population of Brazil is aware of the existence of nursing schools, and how they have obtained this information. Data were collected by telephone interviews. The sample consisted of 326 subjects whose telephone numbers were taken from the telephone book. Analysis showed that 73% of the subjects were aware of the existence of two nursing schools in the city; however, 65.03% did not know the names of these schools. Direct communication with friends and family, as well as indirect communication by television and advertising, were the sources of information mentioned by those questioned.     

An occupational perspective on the concept of participation in the International Classification of Functioning, Disability and Health--some critical remarks.

The International Classification of Functioning, Disability and Health (ICF; World Health Organization, 2001) provides an international and interprofessional scientific basis for understanding and studying health. The concept of participation plays an important role in the classification and has become a central construct in health care, rehabilitation, and in occupational therapy. The aim of this paper is to provide a critical analysis of the concept of participation in the ICF. As background, the origins and current presentation of the ICF are presented. The use and function of the ICF and the contemporary discussions regarding the classification are reviewed. An occupational perspective on participation in the ICF reveals major shortcomings regarding the subjective experience of meaning and autonomy. Furthermore, the ICF has limitations in capturing different kinds of participation in a single life situation. Following these analyses we discuss the advantages and shortcomings of using the ICF, and how an occupational perspective can contribute to an ongoing discussion about the development of the ICF.     

Gene expression profiles of serous, endometrioid, and clear cell subtypes of ovarian and endometrial cancer.

PURPOSE: The presence of similar histologic subtypes of epithelial ovarian and endometrial cancers has long been noted, although the relevance of this finding to pathogenesis and clinical management is unclear. Despite similar clinical characteristics, histologic subtypes of cancers of the ovary and endometrium are treated according to organ of origin. This study compares the gene expression profiles of analogous histologic subtypes of cancers of the ovary and endometrium using the same genomic platform to determine the similarities and differences between these tumors. EXPERIMENTAL DESIGN: Gene expression profiles of 75 cancers (endometrioid, serous, and clear cell) of the ovary and endometrium, five renal clear cell cancers, and seven normal epithelial brushings were determined using a 11,000-element cDNA array. All images were analyzed using BRB ArrayTools. Validation was done using real-time PCR on select genes and immunohistochemical staining. RESULTS: Comparison across endometrial and ovarian cancers and serous and endometrioid tumors showed expression patterns reflecting their organ of origin. Clear cell tumors, however, showed remarkably similar expression patterns regardless of their origin, even when compared with renal clear cell samples. A set of 43 genes was common to comparisons of each of the three histologic subtypes of ovarian cancer with normal ovarian surface epithelium. CONCLUSIONS: The comparison of the gene expression profiles of endometrioid and serous subtypes of ovarian and endometrial cancer are largely unique to the combination of a particular subtype in a specific organ. In contrast, clear cell cancers show a remarkable similarity in gene expression profiles across organs (including kidney) and could not be statistically distinguished.     

Value of albumin dialysis therapy in severe liver insufficiency

Abstract A blood purification system, molecular adsorbents re-circulating system (MARS), is based on the removal of both protein-bound and water-soluble substances and toxins in the liver. We treated a total of 88 patients within 2 years. Of these patients, 45 had acute liver failure (ALF), 31 had acute decompensation of chronic liver disease, eight had graft failure and four had miscellaneous conditions. Of the patients with ALF, 80% survived; in 23 patients their own liver recovered and 13 patients underwent successful transplantation. Only 23% of patients with acute-on-chronic liver failure survived. Most of them were not considered for transplantation due to their having liver failure from alcoholism and from not abstaining from drinking. MARS is a promising therapy for ALF, allowing the patient's own liver to recover or allowing enough time to find a liver graft. Best results were achieved in patients who had been intoxicated with a lethal dose of toxin. On the other hand, we did not observe much benefit in patients with severe acute-on-chronic liver failure (AcoChr) who did not undergo liver transplantation.     

Characterization of in vitro metabolites of the aryl hydrocarbon receptor ligand 6-formylindolo[3,2-b]carbazole by liquid chromatography-mass spectrometry and NMR.

The tryptophan photoproduct 6-formylindolo[3,2-b]carbazole (FICZ) exhibits the highest aryl hydrocarbon receptor (AhR) binding affinity reported so far. In different cells, in vitro, both extracts of UV-irradiated tryptophan and the synthesized pure compound FICZ induce a rapid and transient expression of AhR-regulated genes. The transient induction suggests that the biotransformation gene battery induced by AhR activation takes part in a metabolic degradation of the ligand, whereby a low steady-state level is regained. The down-regulation of AhR-regulated gene expression was previously shown to be dependent on cytochrome P450 1A1 (CYP1A1). Metabolism of FICZ generates five major metabolites, which appeared as three peaks (M1-M3) in the high performance liquid chromatography. The aim of the present study was to use rat liver S9 from Aroclor-pretreated rats to produce large enough quantities of FICZ metabolites for structure characterization and to determine their product precursor relationship. NMR analysis of large combined fractions of the metabolites indicated that M3 and M2 contained 2 isomers, respectively. By means of liquid chromatography-mass spectrometry (negative ion electrospray mode) and NMR spectroscopy (by (1)H-NMR, correlation spectroscopy, and nuclear Overhauser effect spectroscopy techniques) five metabolites of FICZ were identified, and their structures were elucidated. The molecular weights of the two M3 isomers were 300 and both M2 and M1 compounds demonstrated molecular weights of 316, corresponding to addition of one (M3) and of two oxygen (M2 and M1), respectively. The structures were assigned as 2- and 8-hydroxy (M3), 2,10- and 4,8-dihydroxy (M2) and 2,8-dihydroxy derivatives of indolo[3,2-b]carbazole-6-carboxaldehyde (6-formylindolo[3,2-b]carbazole).     

Changes over 6-months in health-related quality of life in a matched sample of hispanics and non-hispanics with heart failure

Hispanics are a growing ethnic minority in the United States and one at significant risk for heart failure. Health-related quality of life (HRQL) is poor in individuals with heart failure, especially during and immediately following hospitalization. No prior research into the HRQL of Hispanics with heart failure was located. A sample of 80 individuals with heart failure, evenly divided by primary language and matched on functional status using the New York Heart Association classification system and age, was studied for 6 months following hospital discharge. Data on HRQL were collected using Spanish and English versions of the Minnesota Living with Heart Failure Questionnaire. Scores improved over time in both groups but significantly more so in the Hispanics when compared to the non-Hispanics. Group differences in HRQL could not be explained by demographics, clinical characteristics, treatment received, perceived support, or instrument response characteristics. Further exploration of this naturally occurring phenomenon may provide insight into how HRQL can be improved in the general heart failure population.     

Reoperations with the Right Gastroepiploic Artery without Cardiopulmonary Bypass

A bstract The right gastroepiploic artery (RGEA) has been utilized as the bypass conduit on the inferior surface of the heart with a minimally invasive approach. Fourteen patients had reoperative coronary bypass surgery for severely symptomatic single-vessel disease of the right coronary artery. All surgeries were performed since May 1996. A small mid-line incision including splitting of the lower sternum gave excellent exposure. The inferior surface of the heart was dissected to expose and stabilize the target vessel. The heart rate was controlled with a diltiazem drip. Cardiopulmonary bypass was not necessary in any case. The right coronary artery was bypassed in three patients, the posterior descending artery branch in ten patients, and the terminal circumflex of the left coronary artery in one. After grafting, patency of the anastomosis was demonstrated by Doppler echocardiogram. Two patients had left anterior descending artery (LAD) grafts with LIMA (left mammary artery) and RGEA grafts performed simultaneously with two port access incisions. No patient had perioperative mortality or complications. No patient had recurrent angina. Doppler color echocardiographic imaging studies before discharge confirmed patency of the graft in 13 of 14 cases. In one case, the gastroepiploic artery could not be visualized. Angiographic visualization was positive in seven cases; seven patients were not studied yet. The gastroepiploic artery is an excellent conduit for vascularization of the inferior aspect of the heart. The operation can be done with a minimally invasive technique and without the use of cardiopulmonary bypass. This approach seems especially applicable in selective reoperative cases.