Anomalous origin of the left coronary artery from the pulmonary artery (Bland-White-Garland syndrome) in a 29-year-old male with absolute tachyarrhythmia]

We report on a man without any symptoms until the age of 29 years when a ventricular tachyarrhythmia occurred for the first time. There were electrocardiographic signs of a previous myocardial infarction of the anterior wall, but there had not even been any episode of angina pectoris. The cause was the anomalous origin of the left coronary artery from the pulmonary trunk (Bland-White-Garland syndrome). Therapy consisted of ligation of the left coronary artery and the implantation of an aortocoronary vein graft to the left coronary artery in order to reinstall a two-coronary system. Diagnosis is easily made by coronary angiography. At a 3-year follow-up there was an increase of the ejection fraction/cardiac output, a stable sinus rhythm, and an improved physical endurance.     

Immunology

A selection of interesting papers that were published in the two months before our press date in major journals most likely to report significant results in immunology.     

Acute intermittent porphyria and primary liver-cell carcinoma.

A patient known with acute intermittent porphyria who developed primary liver-cell carcinoma is described. No other risk factors were found. A possible association of acute intermittent porphyria with the development of primary liver-cell carcinoma has been suggested in recent, mainly Scandinavian literature. So far this association has never been described in The Netherlands.     

Image-guided aspiration of solitary occult breast 'cysts'.

During the 30-month period from March 1, 1988, through August 31, 1990, image-guided aspirations of 183 solitary occult breast masses, which were considered possible cysts, were performed. Indications for aspiration included (1) mass on mammography, either invisible on ultrasonography or with features atypical of a cyst, in 111 patients; (2) enlarging solitary mass on mammography with ultrasonic features suggesting a cyst in 45 patients; and (3) mammographic mass with features typical of a cyst in 27 patients, with confirmation requested by the referring physician. Of the group, 151 (83%) lesions were fluid-filled and 32 (17%) were solid. All aspirates had normal cytologic features. Of the 32 aspirates found to be solid, 19 were subsequently removed after wire localization and 13 were unchanged on mammography for a minimum of 6 months after aspiration. This is a simple and safe procedure, confirming the innocuous nature of an occult solitary breast cyst, and obviates the need for surgical biopsy.     

3D imaging of the labyrinth: application to candidates for cochlear implant]

Cochlear implantation is a treatment for profound bilateral cochlear hearing loss. Two broad varieties of cochlear implants are used: single or multichannel device (22- channel) inserted either into the cochlea (tympanic ramp) or on the promontory on round window Imaging modalities have to predict cochlear patency prior surgery, an essential factor for choosing between intra or extra cochlear implant. Since March 1991, we have investigated 23 implant candidates to evaluate cochlear patency prior surgery, 6 patients underwent surgery: 4 had a multichannel and 2 had a monochannel electrode. Both CT and MRI play a role in pre operative study. CT easily predicts cochlear ossification and labyrinthine malformations MRI (3 D applications) with T 2 Weighted images, one millimeter thick, more clearly depicts labyrinthine liquid and can predict cochlear fibrosis before ossification.     

Abdominalchirurgisch relevante Aspekte des Suizidversuchs

In this retrospective study of 24 patients who were treated at our clinic during the last 22 years after having attempted suicide, we evaluated aspects concerning abdominal-and transplantation surgery. There was a predominance of “hard” (70%) versus “soft” (30%) methods for suicide attempt. Intra-abdominal injuries resulting from attempted suicide by stabbing or shooting should lead to laparotomy— the prognosis is then good. Surgical treatment after intoxication, especially caustic ingestion, depends on endoscopic and clinical findings. The highly increased rates of suicide significantly by kidney transplantation. The risk of suicide after transplantation is further diminished with improved immunosuppressive treatment. Only in a few cases there is an indication for liver transplantation— in some cases of fulminant hepatic failure caused by self-administered paracetomol overdose. Auxiliary liver transplantation may then be considered.     

Detection of the Arg702Trp, Gly908Arg and Leu1007fsinsC polymorphisms of the NOD2/CARD15 gene by real-time PCR with melting curve analysis.

Crohn's disease is a complex disorder, with multiple genetic traits. A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and Arg702Trp) in the NOD2/CARD15 gene are strongly associated with susceptibility to Crohn's disease. The presence of one of these risk alleles confers a 2- to 4-fold increase in the risk of developing Crohn's disease, and the presence of two mutant alleles increases the risk over 20-fold. To facilitate the analysis of these polymorphisms, we developed three LightCycler assays to detect the missense mutations Arg702Trp and Gly908Arg and the frameshift mutation Leu100fsinsC in the NOD2/ CARD15 gene. All three assays can be run simultaneously on one LightCycler using identical cycling parameters. Analysis of 53 DNAs from Crohn's patients helped to identify carriers at allele frequencies similar to other Caucasian populations. The sequencing of such DNAs confirmed the accuracy of the assays. In conclusion, we present three rapid and robust assays to detect the Arg702Trp, the Gly908Arg and the Leu1007fsinsC ins mutations in the NOD2/CARD15 gene [corrected]