Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (Southern Italy)

Restriction fragment length polymorphism (RFLP) of human mitochondrial DNA was analysed in a sample of 87 subjects from Apulia (South Italy) by the restriction enzymes Hpa I, Bam HI, Hae II, Msp I, Ava II, and Hinc II using total blood cell DNA probed by human mtDNA from placenta. Five BamHI morphs were observed, two of which are new ( Bam HI-4 and -5), as well as one new Ava II morph ( Ava II-28). The association Bam HI-4/ Ava II-28 enables us to demonstrate for the first time two polymorphic Bam HI sites present together in the same mtDNA molecule. In agreement with historical data the Apulian sample has been shown to be the most heterogeneous Italian population so far tested.     

Synthesis of TPH-13, a new tridecapeptide from Phyllomedusa rohdei

The synthesis of TPH-13 (Glp-Glu-Lys-Pro-Tyr-Trp-Pro-Pro-Pro-Ile-Tyr-Pro-Met-OH), a tridecapeptide isolated from the skin of the South American frog Phyllomedusa rohdei, is described and alternative approaches are discussed.     

The General Practice Research Club.

The General Practice Research Club was established in 1969, and now has 120 members. A meeting of the club is held twice a year, at which various papers, from research ideas through to completed, published studies are presented. A survey of 40 individuals who had presented papers at meetings during the period 1984-89 showed that almost half (18) had presented papers on clinical topics. As a result of the presentation, 29 individuals had modified their research, with 11 undertaking major alterations. The meeting was rated most highly by those offering ideas and plans for research. Most individuals responded positively to the meetings, commenting that they valued peer review, found the meetings encouraging, and useful for focusing ideas. Lack of criticism and feedback was commented upon. The club has an important role to play in encouraging research by service general practitioners.     

Intratemporal vascular tumors: detection with CT and MR imaging

The diagnostic contributions of computed tomography (CT) and magnetic resonance (MR) imaging were compared in 12 patients with benign intratemporal vascular tumors (hemangioma or vascular malformation). The tumors included six in the internal acoustic canal and six in the geniculate ganglion region. Clinical and histologic correlations were made. Two of the six patients with tumors in the internal acoustic canal underwent CT, and both required gas cisternography to show the tumor. Five patients in that group underwent MR imaging, and all five studies showed the tumor. All six patients with geniculate ganglion tumors underwent CT. Results in one study were questionable, and five showed the tumor. Five patients in this group underwent MR imaging, but the MR findings were positive in only two cases. MR imaging should therefore be performed before CT in the evaluation of facial nerve dysfunction, as it demonstrated all tumors in the internal acoustic canal and some in the geniculate ganglion region. If MR findings are negative, CT should then be performed to rule out a possible geniculate ganglion lesion.     

Acquired Cutis Laxa in Childhood Sweet's Syndrome

Abstract:  In Sweet's syndrome, the essential features are the characteristic morphology of the lesions, their histologic appearance, the dramatic response to corticosteroids and the absence of scarring. We report an 8-month-old infant in whom Sweet's syndrome was diagnosed and who developed acquired cutis laxa in the skin lesions.     

Predicting failure in polytetrafluoroethylene vascular access grafts for hemodialysis: a pilot study

In order to determine if serial, noninvasive evaluation of polytetrafluoroethylene (PTFE) vascular access grafts could identify a subgroup of patients at risk for thrombosis, the authors studied flow characteristics, using duplex ultrasonic scanning, in 18 hemodialysis patients with forearm loop grafts. On average, five examinations were performed per patient over the 10-month study period. Seven episodes of thrombosis occurred in six patients. The mean Doppler flow in grafts that subsequently thrombosed was significantly lower than in those that did not (544 +/- 218 ml/min versus 843 +/- 391 ml/min, p less than 0.001). The interval from last examination to thrombosis ranged from 13 to 58 days. At a defined cut-off flow of 450 ml/min, this test yielded a sensitivity of 83% and a specificity of 75% for episodes of thrombosis occurring within 2 to 6 weeks. The authors conclude that episodes of thrombosis in PTFE arm loop grafts are usually preceded by significantly lower Doppler-measured flow than grafts that do not thrombose and that it may be possible, by this means, to identify grafts at risk.