TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex.

BACKGROUND: Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE: The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI). METHODS AND RESULTS: We conducted a retrospective review of the chest computed tomography (CT) of 45 female and 20 male patients with TSC and found cysts consistent with LAM in 22 (49%) women and two (10%) men. In the female population, changes consistent with LAM were observed in six of 15 (40%) patients with TSC1, 11 of 23 (48%) with TSC2, and five of seven (71%) with NMI. While the predominant size of cysts did not differ across these three groups, TSC2 women with LAM had a significantly greater number of cysts than did TSC1 patients (p = 0.010). CONCLUSIONS: These findings suggest a higher rate of LAM in TSC1 than previously recognised, as well as a fundamental difference in CT presentation between TSC1 and TSC2.

An automated PACS workstation interface: a timesaving enhancement.

OBJECTIVE: Interface design is a key element in the efficient use of a picture archiving and communication system (PACS) workstation. In many cases, multiple mouse clicks or keyboard commands are required to open and close a case, to mark it as complete, and to retrieve and allocate screen positions to the next case. We evaluated the work flow effect of software designed for automated image display in which all of these operations are consolidated in a single mouse click. CONCLUSION: Automated image display increases efficiency in image interpretation and remedies the normally cluttered presentation environment. At our institution, acceptance of automated image display has been overwhelmingly positive. In fact, automated image display has improved radiologist productivity.

Detection of submaximal effort with computer-assisted grip strength measurements.

The purpose of this study was to establish a simple observation to help in distinguishing patients who are giving their maximal effort during computer-assisted grip strength measurements from those who are not. Preliminary observations had suggested that maximal effort with this grip-strength device was characterized by greater force in the radial digits than the ulnar digits and a small variability in force between individual grasps. These observations were then prospectively analyzed in the following groups: (a) 178 assembly workers tested during a routine screening at a computer manufacturing company and during pre-placement physicals; (b) 196 workers with a hand injury or cumulative trauma disorder who were seeking consultation for medical treatment; (c) 55 workers with a hand injury or cumulative trauma disorder being measured to determine their return to work status or impairment rating; and (d) 58 asymptomatic volunteers. The volunteers were instructed to perform the maximal grip in the same fashion as the other groups and then to repeat the test exerting a submaximal effort they estimated to be 50% of their own maximal effort. The results of this study demonstrated that there is a highly significant association, P < 0.001, between the presence of a "total pattern" (radial over ulnar force being less than 1.0, unilateral grip variation greater than 15%, and difference between the left and right grip variation greater than 5%) and the presence of submaximal effort during grip-strength measurements.

Evidence in support of collateral sprouting after sensory nerve resection.

The extent and time course of sensory recovery has been investigated in 13 patients who had resection of a cutaneous nerve. Seven patients were studied within 8 weeks of denervation; 6 others were studied more than 6 months after denervation. Touch sensation was evaluated using a computer-assisted measuring device that recorded the pressure thresholds for static and moving touch, and static and moving two-point discrimination within a continual range from 0.1 to 100 gm per square millimeter. Recovery of sensation within the autonomous zone of the resected nerve could be documented as early as 3 weeks after denervation. After 6 months, two-point discrimination had recovered in the previously denervated areas. Thresholds for all test modalities were found to be elevated within the sensory distribution of adjacent nerves, which suggests that these areas have been the donor source for reinnervation of the chronically denervated territory. Anesthetic block of these adjacent donor nerves resulted in loss of the recovered sensation.

Needle localization of peripheral lung nodules for video-assisted thoracoscopic surgery.

Video-assisted thoracoscopic surgery provides an alternative to conventional thoracotomy for resection of peripheral lung nodules. To localize small peripheral lung nodules that may not be visible or palpable by the surgeon, we have placed a Kopans hook wire percutaneously into the lung as a guide. The indications for localization included previous nondiagnostic percutaneous needle aspiration biopsy (PNAB) (n = 4), nodules too small for PNAB (n = 2), nodules inaccessible to PNAB (n = 3), and planned resection of a known peripheral tumor less than 1 cm (n = 1). The localization procedure was performed with computed tomographic guidance in all patients. The nodules ranged in size from 2 to 15 mm and were located immediately subpleural to 2-cm deep the pleura. A 20-gauge Greene biopsy needle was used as an introducer for a 35-cm-long Kopans hook wire. Patients were sent directly to the operating room in a dependent position. All ten nodules were successfully resected, including hamartoma (n = 1), carcinoid tumors (n = 2), granulomas (n = 3), adenocarcinoma (n = 1), fibrosis (n = 1), benign metastasizing leiomyoma (n = 1), and lymphoma (n = 1). In two patients, the wire slipped out of the lung. Small focal pneumothoraces developed in five patients. There were no major complications. This procedure can safely and effectively localize nonvisible or nonpalpable pulmonary nodules for thoracoscopic surgery for diagnostic purposes or for resection of small peripheral tumors in patients who cannot tolerate a lobectomy or pneumonectomy.