Data quality review program: the Society of Thoracic Surgeons Adult Cardiac National Database

In summary, the National Database Committee's Audit and Validation Subcommittee is working to maximize the data completeness and quality of the STS National Database. Toward this end, we welcome your suggestions for improvement.     

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes

Waardenburg syndrome (WS) is a dominantly inherited and clinically variable syndrome of deafness, pigmentary changes, and distinctive facial features. Clinically, WS type I (WS1) is differentiated from WS type II (WS2) by the high frequency of dystopia canthorum in the family. In some families, WS is caused by mutations in the PAX3 gene on chromosome 2q. We have typed microsatellite markers within and flanking PAX3 in 41 WS1 kindreds and 26 WS2 kindreds in order to estimate the proportion of families with probable mutations in PAX3 and to study the relationship between phenotypic and genotypic heterogeneity. Evaluation of heterogeneity in location scores obtained by multilocus analysis indicated that WS is linked to PAX3 in 60% of all WS families and in 100% of WS1 families. None of the WS2 families were linked. In those families in which equivocal lod scores (between -2 and +1) were found, PAX3 mutations have been identified in 5 of the 15 WS1 families but in none of the 4 WS2 families. Although preliminary studies do not suggest any association between the phenotype and the molecular pathology in 20 families with known PAX3 mutations and in four patients with chromosomal abnormalities in the vicinity of PAX3, the presence of dystopia in multiple family members is a reliable indicator for identifying families likely to have a defect in PAX3.     

A method for radiologic-assisted gastrostomy when percutaneous endoscopic gastrostomy is contraindicated

BACKGROUND: Percutaneous endoscopic gastrostomy (PEG) has been established as a faster and safer procedure than open surgical gastrostomy. It cannot be done, however, for many patients with partially obstructing pharyngeal or esophageal carcinoma, previous gastrectomy, upper abdominal surgery, or bowel distension from distal obstruction. PATIENTS AND METHODS: We attempted percutaneous radiologic-assisted gastrostomy (RAG) in 231 patients referred for gastrostomy, 38 of whom had a relative contraindication for PEG. The procedure involves passing, under radiologic guidance, an orogastric inflation tube that contains a snare. We used a 5-inch long, 18-gauge needle to transabdominally insert a wire into the stomach, avoiding loops of bowel visualized by air contrast. Retrieving the transabdominal wire by snare allowed retrograde passage of the gastrostomy tube as done in standard PEG. RESULTS: The procedure was successful in 230 of 231 cases, including 37 of the 38 patients with contraindications. We could not gain gastric access in 1 patient with a 75% gastrectomy. Overall, 6 patients developed complications and 1 died. There was no procedure-related morbidity or mortality in the patients with contraindications to PEG who underwent successful RAG. Subsequent laparotomy indicated tube passage through the liver in 2 of these cases and small bowel mesentery in 1 case without clinical problems. We performed a percutaneous jejunostomy in the efferent limb of the gastrojejunostomy in 1 patient with a previous gastrectomy. CONCLUSION: The snare technique is simpler and faster than the usual radiologic gastropexy technique, and safer than an endoscopic procedure. It has become our procedure of choice for gaining gastric access.     

Phosphorous and proton spectroscopy in relation to near incarceration and incarceration of the human brain

The yeast gene, YTA10, encodes a member of a novel family of putative ATPases. Yta10p, as deduced from the nucleotide sequence, is 761 amino acids in length (predicted molecular mass 84.5 kDa). The amino acid sequence of Yta10p exhibits high similarity to two other yeast proteins, Yta11 and Yta12, and to E. coli FtsH. Several features of Yta10p are compatible with its localization in mitochondria. We report here that Yta10p is a yeast mitochondrial protein and that import is dependent on a membrane potential and accompanied by processing to a protein of approximately 73 kDa. Disruption of YTA10 leads to a nuclear petite phenotype and to a loss of respiratory competence, as shown by spectrophotometric measurement of the activities of respiratory complexes I-III and IV, respectively. These findings together with the high similarity of Yta10p to several ATP-dependent proteases suggest that Yta10p is a mitochondrial component involved, directly or indirectly, in the correct assembly and/or maintenance of active respiratory complexes.     

Multicenter trial in North America of UroLume urinary sphincter prosthesis

We investigated the effectiveness and associated complications of treatment with an endoluminal urethral sphincter prosthesis in 153 spinal cord injury men (mean age 36 years, range 16 to 74 years) with urodynamically diagnosed detrusor-external sphincter dyssynergia. These patients were prospectively treated with a urethral sphincter stent at 15 centers in North America. Followup ranged from 2 to 33 months. Voiding pressures averaged 76 +/- 28, 42 +/- 21, 44 +/- 38, 35 +/- 18 and 32 +/- 20 cm. water, respectively, before prosthesis insertion in 153 patients and at 3 months in 123, 6 months in 114, 12 months in 98 and 24 months in 22. A significant decrease in voiding pressure was noted in the 22 patients at 24 months compared with matched preoperative data (80 +/- 25 cm. water, p = 0.03). The residual urine decreased from 181 +/- 154 ml. before insertion to 82 +/- 93 ml. at 24 months (p = 0.01). Maximum cystometric capacity remained constant, with a mean of 195 +/- 158 ml. before insertion to 248 +/- 122 ml. at 24 months (p = 0.17). No significant differences were apparent after 24 months of followup in any of the urodynamic parameters between 44 patients with and 109 without previous external sphincterotomy. Hemorrhage requiring blood transfusion, obstructive hyperplastic epithelial overgrowth and soft tissue erosion did not occur. No deleterious effects were observed on renal or erectile function. Of the patients 43 (28.1%) required 2 prostheses to bridge the external sphincter completely. Stent removal was required in 10 patients. Seven explantations were required for prosthesis migration, 1 for pain and urethral edema, 1 for inability to maintain a condom catheter, and 1 for nonepithelialization and secondary bladder neck obstruction. A total of 13 patients (8.5%) required a subsequent operation for bladder neck obstruction. Therefore, the sphincter prosthesis is an attractive modality for the treatment of external sphincter dyssynergia in patients with and without previous external sphincterotomy because of its ease of deployment and minimal associated morbidity.     

Magnetic resonance imaging of disseminated sclerosis

Multiple sclerosis is a chronic demyelinating disease. Paraclinical examinations may contribute to the diagnosis of multiple sclerosis. Magnetic resonance imaging (MRI) has a very high sensitivity concerning multiple sclerosis, and has made it possible to visualize multiple sclerosis plaques in vivo, to follow each plaque over the course of time and in this way to obtain information about the pathogenesis. MRI has shown that the size of plaques may vary considerably, and that plaques are dynamic structures with the ability to change in size over few weeks. By using MRI and the contrast agent Gadolinium-DTPA, it is possible to distinguish a newly developed plaque from an older one. Therefore, MRI has become an important examination in therapeutic trials. Just now, MRI with Gadolinium-DTPA is being used to evaluate the efficacy of plasmapheresis and immunoglobulin treatment in a joint study between Rigshospitalet and Hvidovre Hospital.     

Revascularization of calvarial, mandibular, tibial, and iliac bone grafts in rats

The development of approaches to screening of hospital patients for harmful drinking frequently encounters resistance from both patients and hospital staff. A contributing factor could be the discomfort both feel about talking specifically about drinking. One approach to reducing this discomfort has been to mask concern about alcohol consumption into a general focus on other health and lifestyle issues. One-hundred and eighty-two patients admitted to an emergency department were presented randomly with either a straight alcohol screening questionnaire or a general health and lifestyle questionnaire with alcohol questions embedded amongst items on smoking exercise and diet. The number of returns was equal for both questionnaires which suggests the masked questionnaire does not improve the acceptability of alcohol screening in hospital environments.     

Erythema migrans-like rash illness at a camp in North Carolina: a new tick-borne disease?

BACKGROUND: Borrelia burgdorferi, the causative agent of Lyme disease, has never been isolated from a patient thought to have acquired Lyme disease in any southeastern state. OBJECTIVE: To investigate 14 cases of an erythema migrans (EM)-like rash illness that occurred during 2 summers at an outdoor camp in central North Carolina in an effort to determine the etiologic, epidemiological, and clinical aspects of this illness. METHODS: Using active surveillance, we identified cases of clinically diagnosed EM in residents and staff of the camp. We collected clinical and demographic information; history of exposure to ticks; acute and convalescent serum antibodies to B. burgdorferi, Rickettsia rickettsii, and Ehrlichia chaffeensis; and cultures for spirochetes from biopsy specimens of skin lesions. Serum samples from a group of residents and staff who did not develop rashes were tested for the same antibodies. We speciated ticks removed from people and collected from vegetation. RESULTS: We identified 14 cases of EM-like rash illness during the 2 summers. Of the 14 case-patients, 10 had associated mild systemic symptoms and 1 had documented fever. All 14 case-patients had removed attached ticks, and 8 remembered having removed a tick from the site where the rash developed a median of 12 days earlier (range, 2-21 days). One tick removed from the site where a rash later developed was identified as Amblyomma americanum, the Lone Star tick; 97% of ticks collected from vegetation and 95% of ticks removed from people were A. americanum. No spirochetes were isolated from skin biopsy specimens. Paired serum samples from 13 case-patients did not show diagnostic antibody responses to B. burgdorferi or other tick-borne pathogens. CONCLUSIONS: This investigation suggests the existence of a new tick-associated rash illness. We suspect that the disease agent is carried by A. americanum ticks. In the southern United States, EM-like rash illness should no longer be considered definitive evidence of early Lyme disease.     

Immunoglobulin A antibodies to Helicobacter pylori

Serological testing for immunoglobulin G (IgG) antibodies to Helicobacter pylori has proven useful in supporting the diagnosis of infection with this organism, but the clinical value of IgA antibodies in H. pylori-related gastritis remains controversial. The purpose of our study was to determine the frequency of IgA-positive IgG-negative patients with symptoms of gastrointestinal (GI) disorders, thus assessing the clinical utility of IgA testing for H. pylori-related gastritis. It was found previously that the frequency of infected individuals in this category (IgA positive and IgG negative) is about 2%, but a large number of IgG-negative patients with GI disorders suggestive of H. pylori infection have not been investigated until now.