MODY type 2 P59S GCK mutant: founder effect in South of Italy.

Mutations in the glucokinase (GCK) gene are the most frequent cause of maturity onset diabetes of the young (MODY) in Italy. We evaluated GCK mutations in 32 unrelated patients younger than 18 years who had been diagnosed with MODY. Eleven different GCK heterozygous mutations were identified in 22 (68.7%) of the 32 probands. Nine mutations were missense and two were nonsense. Three of these mutations (E17X, P59S and E372X) have not been described previously and were shown to be associated with hyperglycaemia. Several prediction methods suggested that the E17X and E372X mutations result in a premature truncated protein and that the P59S mutation is pathogenic. This idea was further supported by evidence suggesting that Proline 59 is a highly conserved amino acid residue and that the P59S mutation does not appear to be present in non-diabetic controls and in sequence variant databases. Furthermore, this mutation was found in six (27.3%) of the patients from the same geographical area, Gargano, pointing to the existence of a founder effect, which was confirmed by microsatellite analysis.

The role of total laboratory automation in a consolidated laboratory network.

BACKGROUND: In an effort to reduce overall laboratory costs and improve overall laboratory efficiencies at all of its network hospitals, the North Shore-Long Island Health System recently established a Consolidated Laboratory Network with a Core Laboratory at its center. METHODS: We established and implemented a centralized Core Laboratory designed around the Roche/Hitachi CLAS Total Laboratory Automation system to perform the general and esoteric laboratory testing throughout the system in a timely and cost-effective fashion. All remaining STAT testing will be performed within the Rapid Response Laboratories (RRLs) at each of the system's hospitals. RESULTS: Results for this laboratory consolidation and implementation effort demonstrated a decrease in labor costs and improved turnaround time (TAT) at the core laboratory. Anticipated system savings are approximately $2.7 million. TATs averaged 1.3 h within the Core Laboratory and less than 30 min in the RRLs. CONCLUSIONS: When properly implemented, automation systems can reduce overall laboratory expenses, enhance patient services, and address the overall concerns facing the laboratory today: job satisfaction, decreased length of stay, and safety. The financial savings realized are primarily a result of labor reductions.

Planning and implementing total laboratory automation at the North Shore-Long Island Jewish Health System Laboratories.

Lab automation and consolidation can be a daunting, risky, major reengineering project. Done right, it can mean decreased labor costs and space requirements, increased test volume, and more efficient use of personnel. See how this health system got the job done using a carefully defined, seven-step plan.

Surgical management of traumatic disruption of the descending aorta.

During an 11 1/2-year period, 20 consecutive patients presenting with a traumatic disruption of the proximal descending aorta underwent an emergency operative repair. The mean age was 26 years (range 15 to 62), and 13 (65%) were male. Associated injuries were frequent and required additional major operative procedures in half of the cases. Two patients died as a result of associated intracranial injuries, for a hospital survival of 90%. The operative repair was accomplished by graft replacement of the involved segment of the aorta in all but one patient who underwent a primary repair. Simple aortic crossclamping was used in 8 patients (40%) and heparinless femoral-femoral venoarterial bypass in 12 patients (60%). Neither renal failure nor paraplegia in any of the patients. Four patients required thoracic reoperations. These results indicate that an aggressive multidisciplinary surgical approach can produce favorable results in patients with traumatic descending aortic injuries.

Popliteal artery injury complicating arthroscopic menisectomy.

Inadvertent popliteal artery injury during arthroscopic menisectomy is an unusual occurrence. Prompt diagnosis and treatment are essential to achieve a good outcome, as illustrated in two of the five patients described herein. Pitfalls in diagnosis led to late recognition and therapy in three patients, with subsequent serious complications; namely, arteriovenous fistula, false aneurysm, and amputation. On the basis of this limited but poignant experience, we propose an outline of steps in management to help others avoid similar problems. If popliteal injury is suspected, we advise exploration immediately to avoid a potential limb-loss crisis. Heparin should be given as soon as diagnosis is made. A posterior incision in the knee crease, rather than the conventional medial approach, gives expedient exposure for precise repair. We also advise passing a no. 3 thrombectomy catheter distally to rule out or retrieve any clot that may have embolized. A completion angiogram is also helpful. Compartment pressure may be measured, but if any doubt exists, a three-compartment fasciotomy should be performed.

Closure of bronchopleural fistulas by an omental pedicle flap.

Bronchopleural cutaneous fistulas are a serious problem that are difficult to treat with any assurance of success. Thoracoplasty, muscle pedicle grafts, and attempts at reclosure have been used with limited success. We have used the omental flap technique in the management of five patients with bronchopleural cutaneous fistulas. In our patients and in four cases in the literature, the success rate has been 100 percent. The omental pedicle flap is a simple way to close bronchopleural fistulas. It avoids extensive chest wall dissection and destruction in patients who often have marked respiratory embarrassment and other underlying disease. The results have been excellent.

Descending thoracic aortic aneurysm: a 10 year surgical experience.

Presently we favor heparinless femorofemoral venoarterial bypass for all descending thoracic aneurysm resections. The advantages are minimal blood loss due to the absence of heparin, ease of insertion, especially in large aneurysms where it would be difficult to insert a temporary shunt, distal aortic perfusion, possibly a safety factor in preventing spinal cord and visceral ischemia, and prevention of left heart overload and myocardial failure. In acute traumatic ruptures, simple aortic cross clamping is a suitable alternative. It is safe and can be carried out expeditiously in any community hospital where bypass facilities may not be available. Proximal hypertension can be controlled pharmacologically. We have also used this successfully in ruptured atherosclerotic aneurysms. We have no experience with temporary tridodecylmethylamonium (TDMAC) shunts; several groups have used them successfully. We believe they may be difficult to insert in the proximal aorta with a large mediastinal hematoma or extensive aneurysm. Cannulation of the left ventricular apex necessitates cardiac manipulation and may produce effective aortic valve insufficiency. In patients with aortoesophageal and bronchoesophageal fistula, permanent extrathoracic bypass is preferable to a prosthetic graft in a contaminated field. We propose using a permanent bypass with a no. 10 or 12 right axillofemoral bypass. Our experience is limited to only two patients. This is also a method of treating a mycotic aneurysm or infected thoracic aortic graft.

Peripheral embolization following blunt thoracic trauma.

The case of a 41-year-old man with an embolus in the left popliteal artery following multiple injuries suffered in an auto accident is presented. Following popliteal embolectomy, a rupture of the descending thoracic aorta was demonstrated and repaired. The need for aortography in patients with severe blunt chest trauma who develop hypertension is emphasized.

Management of ruptured thoracic aortic aneurysms.

Nine cases of emergency resection of the thoracic aorta without temporary shunt or cardiopulmonary bypass are presented. Five were acute traumatic transections of the descending thoracic aorta secondary to blunt trauma. All five patients survived without sequelae. Four of the patients had ruptured arteriosclerotic aneurysms, including one aortobronchial fistula and one aortobronchial esophageal fistula. Two of these four patients survived without sequelae and two died in the postoperative period. One of the two latter patients had paraplegia. A review of the different methods of prevention of ischemic damage to the spinal cord and abdominal viscera is presented. Use of simple aortic cross clamping in the emergency situation for both acute traumatic transections of the aorta and ruptured arteriosclerotic aneurysms of the thoracic aorta is justified.