Loss of heterozygosity and microsatellite instability in male breast cancer

Male breast cancer is a relatively rare disease that represents about 1% of all male malignancies. Its genetic basis has received little attention. Allelic imbalance, reflected by change in microsatellite repeat number (MSI) or loss of heterozygosity (LOH), is thought to play an important role in carcinogenesis. In this study we have examined DNA extracted from paraffin tissue from 15 patients treated for male breast cancer, for evidence of such abnormalities, at 20 different loci across the genome. Polymerase chain reaction amplified products of normal and tumor DNA pairs were compared by electrophoresis on Spreadex gels. MSI was detected in 5 patients; at a single site in 2 cases and at 3, 7 and 9 sites in another 3 cases. LOH was seen in 8 cases (53%); at more than one site in 4 of these. Two patients had allelic variation at 56 and 62% of assessable sites. The most unstable loci were D2S441 (33%) and D13S325 (27%). These observations indicate that replication errors and allelic loss characterise male breast cancer tissue in much the same way as they do in women. More studies will be needed to establish whether these are random lesions or whether there are specifically affected sites that occur in both male and female breast cancer.     

Acute myocardial infarction secondary thrombosis associated with ovarial hyperstimulation syndrome

Ovarian hyperstimulation syndrome (OHSS) is one of the most serious complication of controlled ovarian stimulation. Cerebral infarction, myocardial infarction, death and vascular thrombotic events associated with OHSS had been reported. We report a case of a patient with myocardial infarction associated with OHSS.     

Application of Poisson kriging to the mapping of cholera and dysentery incidence in an endemic area of Bangladesh

Background  

Disease maps can serve to display incidence rates geographically, to inform on public health provision about the success or failure of interventions, and to make hypothesis or to provide evidences concerning disease etiology. Poisson kriging was recently introduced to filter the noise attached to rates recorded over sparsely populated administrative units. Its benefit over simple population-weighted averages and empirical Bayesian smoothers was demonstrated by simulation studies using county-level cancer mortality rates. This paper presents the first application of Poisson kriging to the spatial interpolation of local disease rates, resulting in continuous maps of disease rate estimates and the associated prediction variance. The methodology is illustrated using cholera and dysentery data collected in a cholera endemic area (Matlab) of Bangladesh.     

A phase III, double-blind, randomized trial of palonosetron compared with ondansetron in preventing chemotherapy-induced nausea and vomiting following highly emetogenic chemotherapy.

BACKGROUND: This pivotal phase III trial evaluated the efficacy and safety of palonosetron in preventing acute and delayed chemotherapy-induced nausea and vomiting (CINV) following highly emetogenic chemotherapy (HEC). PATIENTS AND METHODS: Patients were randomized to a single intravenous dose of palonosetron 0.25 mg or 0.75 mg, or ondansetron 32 mg prior to HEC. Dexamethasone pre-treatment (with stratification) was used at investigator discretion. The primary efficacy endpoint was the proportion of patients with complete response (CR) during the first 24 h post-chemotherapy (acute phase). RESULTS: In the intent-to-treat analysis (n = 667), palonosetron 0.25 mg and 0.75 mg were at least as effective as ondansetron in preventing acute CINV (59.2%, 65.5%, and 57.0% CR rates, respectively); CR rates were slightly higher with palonosetron than ondansetron during the delayed (24-120 h) and overall (0-120 h) phases. Two thirds of patients (n = 447) received concomitant dexamethasone. Patients pre-treated with palonosetron 0.25 mg plus dexamethasone had significantly higher CR rates than those receiving ondansetron plus dexamethasone during the delayed (42.0% versus 28.6%) and overall (40.7% versus 25.2%) phases. Palonosetron and ondansetron were well tolerated. CONCLUSIONS: Single-dose palonosetron was as effective as ondansetron in preventing acute CINV following HEC, and with dexamethasone pre-treatment, its effectiveness was significantly increased over ondansetron throughout the 5-day post-chemotherapy period.     

Percutaneous transvenous balloon mitral valvuloplasty: mid-term results in adolescents

Six patients with mitral valve stenosis underwent percutaneous balloon mitral valvuloplasty (PBMV) in our department between November 1992 and December 1997. Five patients had rheumatic mitral valve stenosis and one had congenital mitral valve stenosis and Eisenmenger's syndrome with patent ductus arteriosus (PDA). Functional status before PBMV was class IV in two patients, class III in two patients, and class II-III in two patients, as classified by the New York Heart Association (NYHA). The mean diastolic pressure gradient across the mitral valve measured during heart catheterization before and immediately after PBMV was 18.8 +/- 10.42 and 9.4 +/- 7.7 mmHg, respectively (p < 0.01). The patients were followed for a mean period of 36.6 +/- 8.5 months (range 12 to 72 months) after the procedure. During follow-up, post PBMV mean diastolic transmitral gradient measured by color Doppler echocardiography decreased from 19.3 +/- 11.16 to 7.43 +/- 7.3 mmHg (p < 0.01) and the mitral valve area increased from 1.09 +/- 0.7 to 3.1 +/- 0.9 cm2 (p < 0.002). Functional capacity showed improvement to NYHA class I in four patients, to class II-III in the patient with congenital mitral valve stenosis and Eisenmenger's syndrome with PDA and to class II in one patient with severe mitral valve calcification in whom restenosis occurred three years after PBMV. Percutaneous balloon mitral valvuloplasty PBMV can achieve very good short- and mid-term results in relieving symptomatic rheumatic mitral valve stenosis.     

TNF Alpha−308 Genotype and Renin–Angiotensin System in Hemodialysis Patients: An Effect on Inflammatory Cytokine Levels?

BACKGROUND: Renin-angiotensin system (RAS) was suggested to modulate inflammatory cytokine production. Angiotensin II was consistently shown to increase production of tumor necrosis factor alpha (TNF-alpha). However, inflammatory cytokines and RAS were modulated by genetic polymorphisms such as TNF-alpha-308 G > A and angiotensin-converting enzyme (ACE) I/D gene polymorphisms. The aim of this study was to investigate the effects of ACE and TNF-alpha genotypes on inflammatory cytokines in hemodialysis (HD) patients. METHODS: ACE I/D and TNF-alpha-308 G > A genotypes, pre- and postdialysis plasma renin activity (PRA), serum ACE, interleukin-1 beta (IL-1beta), and TNF-alpha levels were determined in 22 HD patients. RESULTS: Predialysis serum ACE activity is correlated with TNF-alpha (r = 0.63; P = 0.01), and PRA was correlated with IL-1beta levels (r = 0.49; P = 0.02). Pre/postdialysis IL-1beta and TNF-alpha were similar in DD and II/ID ACE genotypes. Predialysis TNF-alpha and IL-1beta (32.4 +/- 5; 35.1 +/- 4.2 vs. 28.1 +/- 3.7; 26.5 +/- 6.2 pg/mL; P < 0.05) and postdialysis TNF-alpha levels (30.4 +/- 1.4 vs. 28.4 +/- 0.82 pg/mL; P < 0.05) were significantly higher in TNF1/2 than TNF1/1 patients. CONCLUSION: ACE and TNF-alpha-308 G > A (1/2) gene polymorphisms may contribute to modulation of proinflammatory cytokine production and hence chronic inflammation in HD patients.     

Interleukin-1alpha, interleukin-1beta, and interleukin-1Ra polymorphisms in febrile seizures

Febrile seizures are the most common form of childhood seizures. The exact mechanism promoting convulsions during a common febrile illness remains unknown, but it is accepted that genetic influences are likely to account for at least some of the cases. Previous studies reported high interleukin-1beta levels in the cerebrospinal fluid of patients with febrile seizures. Recently, an association between a regulatory polymorphism in the genes encoding interleukin-1beta and interleukin-1Ra and febrile seizures was reported. In this study, we attempted to confirm these findings. We analyzed the cytokine gene polymorphisms of interleukin-1beta, interleukin-1alpha, and interleukin-1Ra of 73 children with febrile seizure and 152 healthy controls. The distribution of interleukin-1beta -511, interleukin-1alpha -889, and interleukin-1Ra genotypes and alleles did not differ significantly between cases and controls. Our data suggest that the studied gene polymorphisms of interleukin-1beta, interleukin-1alpha, and interleukin-1Ra do not have a significant role in the pathogenesis of febrile seizures.     

Correlation between the tissue Doppler, strain rate, strain imaging during the dobutamine infusion and coronary fractional flow reserve during catheterization: a comparative study

Coronary fractional flow reserve (FFR) as an invasive, and dobutamine stress echocardiography (DSE) as a noninvasive technique were used to detect critical coronary stenosis. This study was undertaken to assess correlation between these two techniques by using tissue Doppler, strain rate (SR), and strain imaging (S). METHODS: In 17 patients (aged 54.9+/-12.6, 4 F), a total of 22 vessels were studied. On dobutamine stress echocardiography, baseline and peak systolic (Sm), early (Em) and late (Am) diastolic myocardial velocities, SR and S were recorded from parasternal view (mid-posterior segment) for radial and apical view (mid-septum) for longitudinal deformation. Then coronary FFR was performed by using intracoronary adenosine infusion, and the value of < or = 0.75 was accepted as critical coronary stenosis. RESULTS: FFR was found to be significant in 10 vessels (FFR critical). Baseline Sm, Em/Am, SR, S values, and peak Em/Am, SR, S values were similar between critical or noncritical FFR groups. Baseline Sm and Em, and change between baseline and peak Sm and S were significantly higher in noncritical FFR group (p < 0.01, < 0.05, < 0.001, < 0.001, respectively). In all vessels, FFR after adenosine infusion showed a poor correlation with WMSI, Em, Am, Em/Am values, and the change in SR values (r = -0.22, 0.16, -0.14, 0.21, 18, respectively) showed a good correlation with the change in S (r = 0.51; p = 0.014), and a very good correlation with the change in Sm values (r = 0.77; p < 0.001) during DSE. When FFR values at left coronary system were analyzed for longitudinal SR and S values, it had a mild correlation with SR (r = 0.47, p = 0.044) and a good correlation with S (r = 0.66, p = 0.002). CONCLUSION: The quantification of regional myocardial deformation by using DSE rather than the motion would be more appropriate in detecting the ischemic dysfunctional segment supplied by the critical coronary stenosis. Strain measurement during the dobutamine infusion may provide an information on the FFR results of the culprit vessel.     

Idiopathic unilateral hyperhidrosis with Holmes-Adie syndrome: case report

Hyperhidrosis is a disease that is characterized by excessive sweating due to hyperactivation of eccrine sweat glands. It may be localized or generalized form. Holmes-Adie syndrome is an idiopathic disease with unilateral pupil dilatation and loss of deep tendon reflexes. We present a 37-year-old female patient diagnosed with unilateral hyperhidrosis coincident with Holmes-Adie syndrome because of this unusual presentation.