Molecular basis of familial cleft lip and palate

Cleft lip and palate (CLP) is one of the commonest congenital malformations and although the aetiology is still very unclear, a familial genetic component is considered to be an important factor in certain individuals. Molecular biology techniques are being used to identify the genes involved and this paper reviews current knowledge and the advances that have already been made. Recent evidence suggests a potential major gene on 6p, and a modifying role for transforming growth factor alpha (TGFA). Moreover retinoic acid receptor alpha (RARA) (17q), MSXl (4p), 4q and BCL3 (19q) could all be implicated in certain CLP families. In addition, the potential modifying role of various genes with the environment are considered to be important areas of research in the future. The identification of a genetic locus associated with this disease would be an important advance in CLP genetic counselling and lead to a better understanding of the genetic basis of CLP.     

Prevention of surgical site infection by antibiotic spraying in the operative field during cardiac surgery

OBJECTIVE: Despite the many procedures introduced to prevent surgical site infection during cardiothoracic surgery, serious infections still occur. We attempted to reduce surgical site infection by spraying antibiotic solution in the operative field--a procedure since introduced at 4 other Japanese institutions. METHODS: In the latter half of 1990, we began spraying an antibiotic solution of cefazolin (1g) and gentamicin (40 mg)/40 ml of saline placed in a 50 ml syringe and dispensed through an 18 G needle bent at 60 to 80 degrees to clean the wound during surgery. RESULT: No deep surgical site infections or deaths due to infection have occurred among the 502 patients undergoing cardiothoracic surgery under cardiopulmonary bypass at our hospital. This method was used in over 2,100 cases of similar procedures at 4 other institutions. There were 3 deaths due to severe surgical site infection (0.11%). At one institution treating over 1,000 cases a year, the incidence of death due to surgical site infection decreased significantly after this method was introduced. CONCLUSION: These preliminary experiences show that spraying antibiotic solution in the operative field reduces the risk of surgical site infection in cardiothoracic surgery.     

LYMPHOCYTIC HYPOPHYSITIS: SPONTANEOUS RESOLUTION ON MRI WITH PROGRESSION OF ENDOCRINE DEFECT

Lymphocytic hypophysitis is an uncommon condition that typically occurs during the last trimester of pregnancy or in the postpartum period. Presentation is of an anterior pituitary mass with varying degrees of pituitary dysfunction. We present a case in which there was dramatic resolution of the pituitary lesion on sequential MRI scanning. Despite this apparent resolution, however, the patient continues to have significant pituitary dysfunction.     

The thoracic aorta studied by MR imaging

Thirty-three patients with a variety of disorders of the thoracic aorta (aneurysm, dissection, Marfan syndrome, coarctation/pseudocoarctation, L-transposition, and Takayasu disease) were evaluated with magnetic resonance (MR) imaging. MR imaging delineated the presence and extent of thoracic aortic aneurysms and showed the relationship of the aneurysm to arch vessels; it also demonstrated intimal flaps and individual lumina in types A and B aortic dissection. Dilation of the ascending aorta in Marfan syndrome and focal narrowing of the aorta in coarctation were well visualized. The anteroposterior and side-to-side relationships of the aorta and pulmonary artery in L-transposition were demonstrated, as were aortic wall thickening and branch vessel narrowing in Takayasu arteritis. Initial experience suggests that MR imaging may provide a noninvasive method for evaluating thoracic aortic disease. Limitations include inferior spatial resolution, occasional difficulty in imaging the entire region of interest in one section, lack of signal from calcifications, and inability to monitor critically ill patients.     

Psoas muscle disorders: MR imaging

Nineteen patients with evidence of psoas and iliopsoas abnormalities on computed tomographic (CT) scans (12 with metastases, three with lymphoma, two with hematoma, and two with abscess) were examined with magnetic resonance (MR) imaging. The abnormal psoas could be identified on both T1- and T2-weighted spin-echo images, although T2-weighted sequences provided better contrast. The psoas muscle can be affected by one of three mechanisms: total replacement, lateral displacement, or medial displacement. In four patients in whom the CT study showed apparent enlargement of a psoas muscle, subsequent MR imaging examinations demonstrated that the psoas muscle was compressed and displaced laterally by a paraspinal mass. MR images provided better contrast between the normal and abnormal psoas than CT scans in nine cases; MR images were inferior to CT scans in two cases because calcifications (one case) and air bubbles within an abscess (one case) were not detectable.     

Is ACTH a key to understanding anticonvulsant action?

Adrenocorticotrophin hormone (ACTH) has been used as an anticonvulsant for many years. In this paper, the use of ACTH in 23 children with intractable epilepsies is described. It was found that ACTH worked most effectively when the EEG showed benzodiazepine sensitivity. A mechanism of action of ACTH is proposed.     

Hepatic metastases studied with MR and CT

Examinations of the liver using magnetic resonance (MR) and computed tomography (CT) were performed on 50 patients with hepatic metastases. MR and CT were comparable in their ability to detect metastases, which generally appeared hypointense compared with normal liver parenchyma on T1-weighted MR images and hyperintense on T2-weighted images. The MR imaging techniques that were most reliable in detecting metastases were inversion recovery and a relatively T2-weighted, spin-echo technique (TR = 1,500 msec, TE = 60 msec). We conclude that CT, because of its shorter imaging time, greater spatial resolution, and lower cost, should remain the preferred screening test for hepatic metastases. MR imaging should be reserved for patients with equivocal CT findings and for patients in whom there is persistent clinical suspicion of hepatic metastases despite a negative CT examination.     

Clinical and experimental vasogenic edema: in vivo sodium MR imaging. Work in progress

To investigate the sodium magnetic resonance (MR) imaging characteristics of acute vasogenic edema, an experimental canine model was developed. Vasogenic edema was produced in the hemisphere of the dogs by the intraarterial infusion of hypertonic mannitol (25%). This solution opens the blood-brain barrier, allowing the influx of water, electrolytes, and proteins into the brain. The main advantage of this model over the established "cold injury" model is the lack of associated brain necrosis. Two patients with chronic vasogenic edema secondary to well-circumscribed meningiomas also underwent MR imaging. The sodium signal was markedly elevated in both clinical and experimental studies of vasogenic edema fluid compared with signal in healthy brain tissue. Extracellular sodium associated with vasogenic edema displayed MR imaging characteristics similar to that of sodium in serum. There was a trend toward a shortened T2 in edema fluid secondary to the presence of serum macromolecules.