Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

The gene for retinitis pigmentosa 3 (RP3), the most frequent form of X- linked RP (XLRP), has been mapped previously to a chromosome interval of less than 1000 kbp between the DXS1110 marker and the OTC locus at Xp21.1-p11.4. Employing a novel technique, YAC Representation Hybridization (YRH)', we have recently identified a small XLRP associated microdeletion in this interval, as well as several putative exons including the 3' end of a gene that was truncated by the deletion. cDNA library screening and sequencing of a cosmid centromeric to the deletion has now enabled us to identify numerous additional exons and to detect several point mutations in patients with XLRP. The predicted gene product shows homology to RCC1, the guanine-nucleotide- exchange factor (GEF) of the Ras-like GTPase Ran. Our findings suggest that we have cloned the long-sought RP3 gene, and that it may encode the GEF of a retina-specific GTP-binding protein.      

Thoracic outlet syndrome: evaluation with CT

Diagnosis of the thoracic outlet syndrome is often difficult, particularly in patients without osseous abnormalities on plain radiographs. The radiographic and computed tomographic (CT) findings were reviewed from 27 patients with thoracic outlet syndrome and 21 normal subjects. The plain radiographs and CT scans were assessed by two independent observers without awareness of the clinical history. Fifteen patients with thoracic outlet syndrome had osseous abnormalities (anomalous cervical ribs; abnormally long, drooping C-7 transverse processes) identifiable on plain radiographs. CT did not provide further diagnostic information in the patients with abnormal radiographs. Eight of 12 patients (66%) with normal plain radiographs had abnormal findings on CT scans, consisting of impingement of the C-7 transverse process on the scalene triangle or anteromedial aspect of the middle scalene muscle. Only two of 21 control patients (9.5%) displayed this CT abnormality (P less than .01). CT may be useful in patients with symptoms suggestive of thoracic outlet syndrome and no osseous abnormalities on plain radiographs.     

Histological characterization of a delayed wound healing model in pig

Chronic wounds, such as venous ulcers and pressure ulcers, frequently remain unresponsive to currently available treatments. Several animal models of wound healing have been published, including models of impaired healing developed to mimic the clinical condition of chronic wounds better. We used a delayed wound healing model in the pig that uses irradiation of the skin prior to creation of the surgical wounds and characterized it histologically. Radiation was used on one side of the back prior to making four full-thickness wounds on each side. Clinical observations were performed to record granulation tissue, reepithelialization, and wound area as a function of time. Histology data were obtained at 1, 2, 3, and 4 weeks, and slides were stained with hematoxylin and eosin for general observations. Immunohistochemistry was performed using laminin as a marker for blood vessels, and the number, size, and circularity of blood vessels found in the granulation tissue were measured. Our results show that this model causes a delay in wound healing that is mostly apparent between days 7 and 15. Granulation tissue took more time to form and fill the wounds on the irradiated side, and blood vessels were slower to develop. Blood vessels were larger and more irregular in shape on the irradiated side than on the control side. After 2 weeks, healing resumed, indicating that the induced damage was not irreversible. These results suggest that this model can be used to test the effects of therapeutic approaches intended to treat chronic wounds.     

Superficial- and deep-tissue temperature increases in anesthetized dogs during exposure to high specific absorption rates in a 1.5-T MR imager

Superficial- and deep-tissue heating was measured in five dogs during high-specific-absorption-rate radiofrequency (RF) irradiation to see whether significant temperature changes could be produced by a 1.5-T clinical magnetic resonance imager. The RF power output employed was 6.3 times that required for routine imaging. Temperature probes were placed in both deep and superficial tissues, and temperatures were recorded before, during, and after exposure. In each dog, there was a linear temperature increase of several degrees during RF exposure; the maximal average change was 4.6 degrees C in the urinary bladder. The temperature increase was slightly greater in deep tissues than in superficial tissues. The calculated specific absorption rate, based on the temperature change, averaged 7.9 W/kg for all five dogs. These findings argue for continued caution in the design and operation of imagers capable of high specific absorption rates, particularly when they are used for imaging infants or patients with altered thermoregulatory capability.