Cytogenetic analysis of tissues from patients with familial paragangliomas of the head and neck

Background. Paragangliomas of the head and neck are slow-growing tumors that originate from neural crest cells. Between 7% and 9% of these tumors have a familial occurrence. The suspected gene for familial paragangliomas (FP) is transmitted with an autosomal dominant mode of inheritance with incomplete penetrance, and appears to exhibit genomic imprinting. It has been demonstrated by family studies that individuals who inherit the gene(s) from their father will develop the disease. Through linkage analysis, the gene(s) for FP has been postulated to be located on the long arm of chromosome 11. The discovery of many different genes has been elucidated through the cytogenetic analysis of affected individuals who carry specific chromosome aberrations. This project was designed to look for chromosome abnormalities in several second-generation family members to further assist in the localization of the gene(s) for FP. Methods. This study involved the cytogenetic evaluation of lymphocytes, fibroblasts, and tumor cells of several second-generation family members from a three-generation family with FP of the head and neck to look for chromosome abnormalities generally, and for abnormalities of chromosome 11 specifically. Standard cytogenetic techniques were used for lymphocyte and fibroblast cultures. Tumor cells were cultured in a collagen matrix with F12 medium supplemented with 3% L-glutamine and 10% fetal calf serum. Results. There were no detectable abnormalities of chromosome 11 in any of the cells. However, nonrandom abnormalities of chromosomes 5 and 7 were seen in some of the tumor cells of one FP patient. To our knowledge, this is the first article which demonstrated the ability to successfully culture FP of the head and neck. © 1995 Jons Wiley & Sons, Inc.     

Challenges in the Diagnosis of the Right Patient for Testosterone Replacement Therapy

Diagnosis of testosterone deficiency is important to identify patients who might benefit from testosterone replacement therapy. Unfortunately, the diagnosis of hypogonadism may be a challenge for many practicing physicians, including endocrinologists and urologists. Signs and symptoms, such as sexual dysfunction, change in body composition, lethargy, and mood changes, are nonspecific and the available questionnaires are generally not useful in clinical practice. The diagnosis of testosterone deficiency is ultimately based on measurement of serum testosterone levels. However, marked variations in the reference ranges of serum testosterone levels among laboratories pose a challenge for physicians when interpreting the results. In addition, initial laboratory assessments usually determine total testosterone levels. About 1–2% of total testosterone is free and a further 30–50% is bound with low affinity to albumin; only these two components are bioavailable to the target tissues. In general, assuming the normal reference range for serum total testosterone in adult men is 300–1000 ng/dl (10–35 nmol/l), levels of < 250 ng/dl (8.7 nmol/l) suggest the patient is likely to be hypogonadal, whereas levels of > 350 ng/dl (12.7 nmol/l) suggest the symptoms may not be due to androgen deficiency. Values between 250 to 350 ng/dl warrant a repeat morning serum testosterone determination with assessment of free or bioavailable testosterone. In men with symptoms suggestive of androgen deficiency and borderline serum testosterone levels, where there are no contraindications to androgen therapy, a short therapeutic trial of testosterone may be justified.     

Computer-assisted LISS plate osteosynthesis of proximal tibia fractures: feasibility study and first clinical results.

Fluoroscopy is the most common tool for the intraoperative control of long-bone fracture reduction. Limitations of this technology include high radiation exposure for the patient and the surgical team, limited visual field, distorted images, and cumbersome verification of image updating. Fluoroscopy-based navigation systems partially address these limitations by allowing fluoroscopic images to be used for real-time surgical localization and instrument tracking. Existing fluoroscopy-based navigation systems are still limited as far as the virtual representation of true surgical reality is concerned. This article, for the first time, presents a reality-enhanced virtual fluoroscopy with radiation-free updates of in situ surgical fluoroscopic images to control metaphyseal fracture reduction. A virtual fluoroscopy is created using the projection properties of the fluoroscope; it allows the display of detailed three-dimensional (3D) geometric models of surgical tools and implants superimposed on the X-ray images. Starting from multiple registered fluoroscopy images, a virtual 3D cylinder model for each principal bone fragment is constructed. This spatial cylinder model not only supplies a 3D image of the fracture, but also allows effective fragment projection recovery from the fluoroscopic images and enables radiation-free updates of in situ surgical fluoroscopic images by non-linear interpolation and warping algorithms. Initial clinical experience was gained during four tibia fracture fixations that were treated by LISS (Less Invasive Stabilization System) osteosynthesis. In the cases operated on, after primary image acquisition, the image intensifier was replaced by the virtual reality system. In all cases, the procedure including fracture reduction and LISS osteosynthesis was performed entirely in virtual reality. A significant disadvantage was the unfamiliar operation of this prototype software and the need for an additional operator for the navigation system.     

Diagnosing osteoporosis by using dental panoramic radiographs: the OSTEODENT project.

OBJECTIVES: Measurement of cortical thickness and subjective assessment of cortical porosity on panoramic radiographs are methods previously reported for diagnosing osteoporosis. The aims of this study were to determine the relative efficacy of the mandibular cortical index and cortical width in detecting osteoporosis, both alone and in combination, and to determine the optimal cortical width threshold for referral for additional osteoporosis investigation. STUDY DESIGN: Six hundred seventy-one postmenopausal women 45 to 70 years of age were recruited for this study. They received dual energy x-ray absorptiometry (DXA) scans of the left hip and lumbar spine (L1 to L4), and dental panoramic radiographic examinations of the teeth and jaws. Three observers separately assessed the mandibular cortical width and porosity in the mental foramen region of the mandible. Cortical width was corrected for magnification errors. Chi-squared automatic interaction detection analysis (CHAID) software was used (SPSS AnswerTree, version 3.1, SPSS Inc., Chicago, IL). RESULTS: Chi-squared automatic interaction detection analysis showed that the cortical porosity was a poorer predictor of osteoporosis than mandibular cortical width. For the 3 observers, a mandibular cortical width of <3 mm provided diagnostic odds ratios of 6.51, 6.09, and 8.04. The test is therefore only recommended in triage screening of individuals by using radiographs made for purposes other than osteoporosis. CONCLUSION: When evaluating panoramic radiographs, only those patients with the thinnest mandibular cortices (i.e., <3 mm) should be referred for further osteoporosis investigation.     

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

Human Molecular Genetics     

Cost comparison of methods for preparation of neonatal red cell aliquots.

OBJECTIVE: The purpose of this study was to compare the preparation costs of two common methods used for neonatal red blood cell transfusion aliquots. METHODS: Three months of data from a Level 2 and Level 3 neonatal intensive care unit (NICU) were used to determine the comparative cost for red cell aliquot transfusions using an eight bag aliquot/transfer system or the syringe set system. Using leuko-poor red blood cell blood collected in Adsol and containing approximately 320 ml of red blood cells and supernatant solution, the average cost of neonatal transfusion aliquots was determined using the Charter Medical syringe set and the Charter Medical eight bag aliquot/transfer system. RESULTS: A total of 126 red blood cell transfusion aliquots were used over the three month period. The amount transfused with each aliquot ranged from 5.0 ml - 55.0 ml with an average of 24.0 ml per aliquot. The cost per aliquot using the eight aliquot/transfer set was calculated as $36.25 and the cost per aliquot using the syringe set cost was calculated as $30.71. Additional benefits observed with the syringe set included decreased blood waste. CONCLUSION: When comparing Charter Medical multiple aliquot bag sets and the Charter Medical syringe aliquot system to provide neonatal transfusions, the use of the syringe system decreased blood waste and proved more cost effective.     

Measurement of Perceived Disruption During Rebuilding Following Hurricane Andrew

The purpose of this study was to develop and evaluate a measure of perceived disruption during rebuilding following a disaster. Two eight-item scales, which measured intensity of disruption during the entire repair phase (Intensity-RP) and intensity of disruption during the past month (Intensity-PM) were developed and administered to 135 survivors of Hurricane Andrew. At 9 to 12 months postdisaster, Intensity-RP and Intensity-PM were both significantly associated with scores on the Global Severity Index of the SCL-90-R, and with scores on the Impact of Event-Intrusion Scale; Intensity-PM alone was significantly associated with PTSD scores. Regression analyses indicated that each scale contributed significant unique variance in predicting mental health symptoms, even after controlling for relevant demographic and initial disaster exposure variables.