Usher syndrome: clinical findings and gene localization studies

The issue of genetic heterogeneity is a critical problem in the localization of the gene(s) for Usher syndrome. Based on the data obtained on families studied to date, the differences between type I and type II Usher syndrome appear quite distinct with regard to auditory and vestibular function. Although the majority of families can be confidently diagnosed as typical type I or type II, clinical investigations revealed four families with findings that did not fit into either of the two more common subtypes. These findings emphasize the critical importance of an in-depth clinical analysis concomitant with the linkage investigation to assure accurate subtyping of Usher syndrome. Based on an analysis of only those families with definite type I or type II Usher syndrome, approximately 17% of the genome can be excluded as a potential site of the gene for type I, and 14% can be excluded as the site for the type II gene. This study will continue until the Usher gene(s) is successfully localized.     

Complete obstruction of the sigmoid colon treated by primary resection and anastomosis—An improved technique (preliminary report)

Three patients with complete colonic obstruction treated by primary resection and anastomosis with intraoperative colon tube decompression and bowel lumen sterilization without a protective colostomy are presented. An improved colonic decompressor was used. It is postulated that this procedure is an alternative safe technique in patients with colonic obstruction in whom an end-colostomy, mucous fistula, or Hartmann pouch would be necessary.     

Prostatitis: Updates on diagnostic evaluation

Prostatitis accounts for almost 2 million office visits to urologists and primary care physicians. The label “prostatitis” refers to a diverse constellation of symptoms and disease processes. The diagnosis and treatment of this disorder present numerous challenges for the physician, including a lack of abnormal findings on physical examination, laboratory tests, and radiographic images. In this article, we offer a review of the current literature and recommendations for the evaluation and diagnosis of the patient presenting with prostatitis.     

Experience of a combined apheresis, blood collection, and blood transfusion unit in a large tertiary care medical center

The Barnes Hospital Apheresis Blood Collection and Blood Transfusion Unit is part of Barns Hospital Blood Bank. Because of its size and complexity, we report our experience which may be useful to administrators and physicians involved in the planning or management of similar services. From 1985 through 1988 we collected platelets from 1,976 different donors, the majority of which (87%) were community donors. Sixty-nine percent of 1,976 donors donated in 1988 an average of 4.9 times. Of 6,568 apheresis products collected. 1.1% were discarded because of positive screening tests and 0.7% were discarded because of outdating or presence of fibrin clot. In 1988 a total of nine cell separators were used. All donor apheresis were done with seven blood separators, and on average a separator produced an apheresis product every 4.5 worked hours. All therapeutic apheresis (338) were done on two separators. Most of them (88%) were performed during work hours. In 1988 donor and therapeutic apheresis were done by 17 1/2 full-time employees (FTEs) during work hours. Considering the Workload Unit Value per procedure given by the College of American Pathologists (CAP) and that each FTE worked 1,864 hours per year, the worked hour productivity for donor and therapeutic apheresis was 78.2%. Blood collections, therapeutic bleeds, and outpatient transfusions (1,127, 114 and 1,745 respectively) were accomplished by two FTEs, for a worked hour productivity of 35.5%. Because 95.1% of total worked units was produced by efficient donor and therapeutic apheresis activities, overall efficiency remained high at 73.8%.     

Gastrogastric fistula: a possible complication of Roux-en-Y gastric bypass.

BACKGROUND: Gastrogastric fistula is a communication between the proximal gastric pouch and the distal gastric remnant, rarely described in the realm of bariatric procedures. The aim of this study was to review the existing literature about this topic and to demonstrate its laparoscopic treatment. METHODS: An extensive literature review found several articles reporting this complication. However, no citation was found describing the steps of the laparoscopic management of this situation. RESULTS: Gastrogastric fistula occurs in up to 6% of Roux-en-Y gastric bypasses. Two theories exist for fistula formation: (1) it is a technical complication derived from the incomplete division of the stomach during the creation of the pouch, and (2) it occurs after a staple-line failure, developing a leak with an abscess, which then drains into the distal stomach forming the fistula. Early symptoms include fever, tachycardia, and abdominal pain. Failure in weight loss is a late clinical sign observed in these patients. Diagnosis is based on radiologic study, upper endoscopy and computed tomography. When identified in the acute postoperative course, laparoscopic treatment is easy. Chronic fistulas are difficult to manage, and the laparoscopic approach is an alternative to open surgery. CONCLUSIONS: Gastrogastric fistula is a possible complication of Roux-en-Y gastric bypass and its laparoscopic treatment is feasible.     

Global transcriptional profiling demonstrates the combination of type I and type II interferon enhances antiviral and immune responses at clinically relevant doses.

A role for type II interferon (IFN-gamma) in resolving viral infection is suggested by the correlation of hepatitis C virus (HCV) clearance with enhancement of IFN-gamma-producing activated T cells in the resolution of acute HCV infection. Using vesicular stomatitis virus (VSV), a synergistic direct antiviral effect was documented using IFN-gamma1b and a potent, consensus type I IFN (IFN alfacon-1). Global expression profiling following EC50 exposure to IFN alfacon-1, IFN-gamma1b, or a cocktail of the two allowed the antiviral state to be correlated with induction of a subset of IFN-stimulated genes (ISGs). Genes identified through this analysis corresponded to classic antiviral components, ISGs more recently associated with direct antiviral functions, as well as expressed sequence tags (ESTs) and hypothetical proteins. The magnitude of these antiviral EC50-correlated expression events in human hepatoma (Huh7) cells exposed to clinically relevant doses of IFN alfacon-1, IFN-gamma1b, or a cocktail of the two was also probed because the standard of care for patients with chronic hepatitis C is type I IFN-containing regimens. Relative to type I IFNs used alone, the addition of type II IFN caused enhanced expression not only of many of the genes correlated with the direct antiviral state but also of genes involved in (1) antigen presentation to cytotoxic T lymphocytes (CTLs), (2) macrophage, natural killer (NK), and T helper 1 (Th1) cell recruitment and activation, (3) complement system function, (4) apoptosis, and (5) ISGs with unknown functions. As many of these processes are correlated clinically with resolution of chronic HCV infection, the combined use of these IFNs could display a beneficial effect on viral clearance in patients infected with HCV and other viruses through enhancement of one of these processes or of the direct antiviral state.     

Practical management of patients with non-small-cell lung cancer treated with gefitinib.

PURPOSE: The use of gefitinib, the first drug approved to inhibit the epidermal growth factor receptor tyrosine kinase, is indicated in patients with non-small-cell lung cancer with tumors progressive after chemotherapy. The unique mechanism of action of this agent leads to distinctive patterns of response and toxicity in persons with lung cancer. Many of the principles of management relevant to gefitinib are distinct from those with conventional cytotoxic drugs. To meet this need, we present practical guidelines on the use of gefitinib in patients with non-small-cell lung cancer. METHODS: This article reviews gefitinib's indications, dosing, response phenomena, and patterns of relapse in individuals with radiographic response. RESULTS: We present our recommendations for the management of rash and diarrhea caused by this agent. CONCLUSION: This information can guide practitioners and help them inform their patients about what to expect when they receive gefitinib.