Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Table 1     

Microvascular abnormalities in patients with rheumatoid arthritis

Microvascular involvement represents one of the first apparent steps in many autoimmune diseases such as rheumatoid arthritis (RA). Early in the disease, peripheral microangiopathy may be easily recognized and studied by videocapillaroscopy. The aim of this study has been to observe the differences in labial microcirculation between healthy patients and patients suffering from RA. A total of 30 healthy patients and 30 patients suffering from RA were examined. The patients with conditions known to compromise microcirculation, such as diabetes, hypertension, or some pharmacological treatments were not included in the study. All the patients were non-smokers. Labial capillaroscopy was used to investigate the characteristics of microcirculation. Visibility, course, tortuosity, as well as the possible presence of microhemorrhages, the average caliber of the capillary loops and the number of visible capillary loops per square millimeter were evaluated for each patient. The investigation was simple, non-invasive, and repeatable for each patient. In patients suffering from RA, it was possible to observe a reduced caliber of capillaries, as well as greater elongated capillaries, in comparison to controls. This study shows that capillary alterations in patients suffering from RA occur in labial mucosa microcirculation; such evidence could be extremely important in the diagnosis of suspected RA.     

The Stranger

J Emerg Nurs 1998;24:622.     

Stable preference for high ethanol concentrations after ethanol deprivation in Sardinian alcohol-preferring (sP) rats.

Results of a recent study have demonstrated that exposure to multiple ethanol concentrations and repeated ethanol deprivation periods in Indiana ethanol-preferring (P) rats resulted in the development of an alcohol deprivation effect (ADE; the temporary increase in voluntary ethanol intake after a period of deprivation from ethanol) characterized by consumption of intoxicating amounts of ethanol. The current study was designed to possibly extend these results to Sardinian alcohol-preferring (sP) rats, generated with the same selective program previously used for P rats. To this aim, ethanol-naive sP rats were exposed initially to the home cage four-bottle choice [10%, 20%, and 30% (vol./vol.) ethanol solutions and water] for eight consecutive weeks. Subsequently, rats were divided into two groups: The first group had continuous access to the four-bottle regimen (nondeprived rats), and the second group was exposed to five cycles of 14-day periods of deprivation from ethanol and 14-day periods of reexposure to the four-bottle regimen. An ADE developed after each deprivation period. However, the extra intake of ethanol was limited to the first hour of each reaccess period. Magnitude of ADE did not change with repeated periods of deprivation. However, a shift in preference toward the two highest concentrations of ethanol solutions was evident from the first reexposure to ethanol and was maintained throughout the study. These results provide further evidence on the heterogeneity of ethanol-drinking behavior among rat lines selectively bred for high ethanol preference and consumption.     

Hemorrhagic vascular complications of endoscopic transsphenoidal surgery.

Two hundred and fifty consecutive patients operated on by an endoscopic endonasal transsphenoidal approach were retrospectively analyzed in order to evaluate hemorrhagic vascular complications occurring during or after the surgical procedure and their appropriate management. Vascular complications of endoscopic transsphenoidal surgery are identical to those of a microsurgical transsphenoidal approach. Damage to the sphenopalatine artery and to the internal carotid artery (ICA), which are the most frequent vascular troubles, may require technical tricks because of some aspects connected to the approach itself and of the physical properties of the endoscope. Furthermore, the progress in interventional neuroradiology in the last decades offers new solutions in respect to the past, where the use of the surgical microscope was already a tremendous progress. The anatomic substrate of each complication is discussed, along with the peculiar surgical details related to it.     

Cancer of the urachus. A rare form of tumors of the bladder]

Cancers of the middle umbilical fold are very infrequent, making up 0.1% to 0.7% of all bladder tumors. This type of tumor affects male subjects in 60% to 75% of cases, in the 5th or 6th decade of life. In more than 90% of all cases, the lesion is a mucosecretory adenocarcinoma developing from embryonic remains within the wall of the bladder and respecting the superficial urothelium of the bladder, which is affected only secondarily, contrary to what occurs in the other adenocarcinomas of the bladder. The pathogenesis remains controversial, especially the role of middle umbilical fold patency and of bladder carcinogens. The diagnosis is most often established late, because of a long clinical latency. It is mainly based on ultrasonography and computed tomography. Explorations of the bladder are useful only at an advanced stage. The prognosis is very poor, survival at 5 years ranging from 6.5% to 25% according to the authors. The treatment is mainly surgical. Only extensive exeresis with partial cystectomy extending to the peri- and supravesical environment, including the peritoneum and the umbilicus, and associated with pelvic lymphadenectomy may give some hope. Chemotherapy and radiation therapy, either alone or complementary, are disappointing. The prognosis may be improved only by an early diagnosis.     

Saliva substitute in xerostomic patients with primary Sj?gren's syndrome: a single-blind trial.

OBJECTIVE: To evaluate the efficacy of oral moisturizing gel (Oral Balance) in xerostomic patients with primary Sj?gren's syndrome (SS). METHOD AND MATERIALS: Twenty-one xerostomic patients with primary SS were subjected to a single-blind trial in which the efficacy of Oral Balance gel in reducing xerostomia and xerostomia-related oral symptoms was compared with that of a placebo. Both gels were packaged identically and were indiscernible in appearance and taste. Xerostomia was confirmed for all the patients through measurement of stimulated whole saliva. Patients began using the Oral Balance gel three times a day for 90 days, and were then switched to a gel placebo to be used in the same way for the same length of time. Clinical response was evaluated through the patients' subjective assessment (improved, worsened, or unaltered) of both gels. RESULTS: Neither the Oral Balance gel nor the gel placebo affected the salivary output of the patients. The Oral Balance gel presented a substantial statistically significant advantage in the control of burning mouth, mastication, and swallowing. No statistically significant relief of the isolated sensation of oral dryness was established. CONCLUSION: Oral Balance is a useful tool in the management of dryness-related oral symptoms in primary SS, but there is room for enhancing the overall properties of topical preparations designed to reduce oral complaints in xerostomic patients.