Identification of single nucleotide variations in the coding and regulatory regions of the myelin-associated glycoprotein gene and study of their association with multiple sclerosis

The myelin-associated glycoprotein (MAG) gene is an appealing candidate in the 19q13 Multiple Sclerosis (MS) candidate region. Using denaturing high performance liquid chromatography (DHPLC), we identified 14 single nucleotide polymorphisms (SNPs) in MAG coding and regulatory regions, and we tested their possible association with MS in Italian patient and control DNA pools. Eight variations had a frequency <0.05, i.e. below the detection limit in the pools. Of these, Arg537Cys was further studied with individually genotyped individuals and was detected in 1/189 patients and 0/85 controls. The frequency of the six remaining SNPs were not significantly different in pools including a total of 1266 patient and 1612 control chromosomes. Considering the statistical power of the experimental design, these results exclude the MAG gene as an MS susceptibility factor with an odds ratio (OR) equal or higher than 1.3.     

Amsterdam criteria II and endometrial cancer index cases for an accurate selection of HNPCC families

Endometrial carcinoma (EC) is the second most common tumor in hereditary nonpolyposis colorectal cancer (HNPCC), with an incidence rate of 60% by the age of 70 in mutation carriers. The International Collaborative Group on HNPCC revised the Amsterdam criteria and proposed a new, wider definition including extracolonic cancers. The aim of our study was to evaluate the accuracy of a new definition called Amsterdam criteria II. We updated, reclassified and compared the pedigrees of 29 women, already reported as being affected by EC and having a colorectal cancer familial background, according to the two clinical diagnostic criteria for HNPCC (Amsterdam criteria I, ACI, and Amsterdam criteria II, ACII) after two periods of observation (1990-1995 and 1995-2000). According to ACII the frequency of HNPCC in the population under study increased from 0.9% to 3.7% in the period 1990-1995 and from 3.2% to 3.7% in the period 1995-2000. ACII allowed early detection of HNPCC families and thus made it possible to provide them with a suitable surveillance program and genetic testing.     

Urinary levels of urokinase-type plasminogen activator and its receptor in the detection of bladder carcinoma

BACKGROUND: The authors found previously that plasma levels of urokinase-type plasminogen activator (uPA) and its receptor (uPAR) were elevated in patients with bladder carcinoma and were associated with features of biologically aggressive disease. In the current study, they tested the hypothesis that elevated urinary levels of uPA and uPAR would predict the presence of bladder malignancy by comparing the performance of uPA and uPAR with the performance of bladder wash-out cytology in the noninvasive diagnosis of bladder tumors. METHODS: An enzyme-linked immunosorbent assay was used to compare levels of uPA and uPAR in urine that was collected before cystoscopy from 122 patients with bladder carcinoma and from 107 participants in a control group. Seventy-two patients had clinical Tis or Ta transitional cell carcinoma, and 50 patients had invasive disease (>or= T1); 85 patients had clinical Grade 1-2 tumors, and 37 patients had Grade 3 tumors. For cytology, only high grade was considered positive. RESULTS: Urinary levels of uPA and uPAR were higher in patients with bladder carcinoma compared with levels in the control group (P < 0.001 and P = 0.016, respectively). However, only uPA levels were elevated in patients with abnormal urinary cytology (P = 0.006). After controlling for cytology (odds ratio [OR], 10.182; 95% confidence interval [95%CI], 4.451-23.291; P < 0.001), uPAR (P for trend = 0.168), and age (P = 0.091), those in the highest quartile for uPA had an increased risk of bladder carcinoma compared with those in the lowest quartile (OR, 3.022; 95%CI, 1.295-7.054; P for trend = 0.031). CONCLUSIONS: The current findings suggest that urinary levels of uPA, but not uPAR, are related to the risk of bladder carcinoma. The study confirmed the central role of urinary cytology in the noninvasive diagnosis of bladder carcinoma.     

A randomized prospective study on the effect of short and long Buserelin treatment in women with repeated unsuccessful in vitro fertilization (IVF) cycles due to inadequate ovarian response

Fifty four women with repeated unsuccessful in vitro fertilization (IVF) cycles due to inadequate ovarian response to stimulation with human menopausal gonadotropins (hMG) participated in this study. They were randomized to receive either gonadotropin releasing hormone agonist (GNRHa), Buserelin, prior to and during induction of ovulation by hMG (Group I—long protocol), or GnRHa starting on the first day of the cycle together with induction of ovulation by hMG (Group II—short protocol). Mean follicular phase serum luteinizing hormone (LH) and progesterone (P) levels were significantly lower in Group I than in Group II (P<0.01). Cancellation rate was significantly lower in Group I than in Group II (P<0.01). The long GNRHa protocol resulted in statistically significant lower cancellation rates, more oocytes per pickup (OPU), more embryos trans-ferred per patient, and a higher pregnancy rate. Significantly more hMG ampoules and more treatments days were required in the long GNRHa protocol. Our data demonstrate that the use of GNRHa prior to and during ovarian stimulation with hMG offers a very good alternative for patients with repetitive unsuccessful IVF cycles due to inadequate response.     

Lateral circumflex femoral arterial system and perforators of the anterolateral thigh flap: an anatomic study

The authors performed an anatomic study on 16 thighs of 11 fresh white cadavers at the Ludwig-Maximilian University of Munchen, Germany. They analyzed the anatomic pattern and caliber of both the lateral circumflex femoral arterial system and the perforators nourishing the anterolateral thigh flap. They found regularly a majority of musculocutaneous perforators, mainly in the central third of the thigh, arising from the descending branch of the lateral circumflex femoral artery. Despite the small number of cadavers, they identified several differences in the anatomy of the lateral circumflex femoral arterial system. These variabilities, especially regarding the descending branch and its perforators, could have clinical importance. They also suggest new dissection studies by comparing white and oriental anatomy. Their aim is to establish whether any difference in the variability of the lateral circumflex femoral arterial system could increase the popularity, currently greater in Eastern Europe, of the anterolateral thigh flap.     

Ethnobotanical survey and antibacterial activity of some plants used in Guinean traditional medicine

A total of 418 healers have been interviewed in Guinea, a coastal country of West Africa, ranging between 7 degrees 30 and 12 degrees 30 of northern latitude and 8 degrees and 15 degrees of western longitude. Plant species used by the local inhabitants to treat infectious diseases were identified using ethnobotanical, ethnographic and taxonomic methods. During these investigations, 218 plants were registered, of which the following were the most frequently used: Erythrina senegalensis, Bridelia ferruginea, Crossopteryx febrifuga, Ximenia americana, Annona senegalensis, Cochlospermum tinctorium, Cochlospermum planchonii, Lantana camara, Costus afer, Psidium guajava, Terminalia glaucescens, Uapaca somon and Swartzia madagascariensis. Most plants, and especially the leaves, were essentially used as a decoction. In order to assess antibacterial activity, 190 recipes were prepared and biologically tested, among which six showed activity (minimal inhibitory concentration<125 microg/ml) against Bacillus cereus, Mycobacterium fortuitum, Staphylococcus aureus, or Candida albicans, i.e., Entada africana, Chlorophora regia, Erythrina senegalensis, Harrisonia abyssinica, Uvaria tomentosa, and a mixture of six plants consisting of Swartzia madagascariensis, Isoberlinia doka, Annona senegalensis, Gardenia ternifolia, Terminalia glaucescens and Erythrina senegalensis.     

Pseudo-Pelger-Huët in kidney-transplanted patients

Pelger-Hu?t anomaly is an inherited condition characterized by hyposegmentation of the neutrophil nucleus and excessive chromatin clumping. Acquired Pelger-Hu?t, also known as pseudo-Pelger-Hu?t, has been described in several clinical conditions including transplant recipients who received immunosuppressive drugs. The incidence of pseudo-Pelger-Hu?t in kidney transplant patients, characterized as neutrophil dysplasia, was observed in 9 of 170 patients (5.3%) at the S?o Francisco Hospital de Assis, Belo Horizonte, Brazil. Awareness of possible circulating neutrophil alterations in transplant patients is important for laboratory professionals who should report these findings of cell changes. It should be highlighted that the poor segmentation and the chromatin hypercondensation observed initially in pseudo-Pelger-Hu?t patients can be suggestive of early-stage neutrophils. Only a combination of laboratory and clinical data will facilitate a better understanding of this anomaly and its correct follow-up and management.     

Comparison of the long-term survival benefits associated with revascularization or medical therapy in patients with known coronary artery disease undergoing transesophageal atrial pacing stress echocardiography

Although the utility of stress echocardiography for the diagnosis and prognostic evaluation of patients with suspected coronary artery disease (CAD) has been widely reported, few studies have evaluated the role of revascularization in relation to the presence of inducible ischemia during stress in patients with known CAD. The study population consisted of 295 consecutive patients who underwent transesophageal atrial pacing stress echocardiography (TAPSE) in the echocardiographic laboratory of our division between January 1988 and September 1997, in whom coronary angiography was performed within 10 days of the test. Patients were then assigned to revascularization or medical treatment according to the treatment given within 60 days of TAPSE. Cardiac-related deaths were higher in medically treated (19 of 135) than in revascularized (8 of 160) patients (p = 0.03). Parameters measured with TAPSE, i.e., positivity of the test, change in wall motion score index (DeltaWMSI and peak WMSI) were significantly related to mortality in medically treated patients but not in revascularized patients. At multivariate analysis, DeltaWMSI remained the most powerful predictor of cardiac death in medically treated patients (p = 0.005). Mortality progressively increased with increments in extent of inducible ischemia among medically treated patients (5 of 71 patients in DeltaWMSI 0, 3 of 27 in DeltaWMSI 0 to 25, 11 of 37 patients in DeltaWMSI >25) but not among revascularized patients (3 of 58 patients in DeltaWMSI 0, 2 of 51 in DeltaWMSI 0 to 25, 3 of 51 patients in DeltaWMSI >25). The survival curve in medically treated patients with ischemia in a remote zone (24 patients, 8 deaths) was worse than in other groups of medically treated patients (41 patients, 6 deaths). In conclusion, in patients with known CAD, the presence and extent of ischemia as evaluated with TAPSE worsens survival, if revascularization is not performed. In patients without ischemia at TAPSE, revascularization or medical therapy are equally effective.