Microsatellite instability is not a common feature in medullary breast cancer

Microsatellite instability (MSI) is a form of genomic instability associated with defective DNA mismatch repair in tumors. MSI is found in 85-90% of hereditary nonpolyposis colorectal cancer cases; however, its occurrence in breast carcinogenesis still remains to be clarified. In addition, data are limited on the incidence of MSI in the medullary subtype. The purpose of this study was to investigate the occurrence of MSI in medullary breast cancer (MBC). The study included a total of 16 patients with MBC, nine with typical and seven with atypical histology. The incidence of MSI in five microsatellite loci (D2S123, D3S1611, D17S807, D17S796 and Xq11-12) was determined by comparing paired normal and tumor tissue DNA after PCR amplification from paraffin-embedded tissues. All 16 tumors showed stability at five loci. Although the number of microsatellite markers and DNA samples may limit the value of our results, we conclude that the MSI phenotype is uncommon in human MBC.     

Coronary lesion type, location, and characteristics of acute ST elevation myocardial infarction in young adults under 35 years of age

OBJECTIVE: In the present study, we attempted to analyze the coronary artery lesion characteristics of acute ST elevation myocardial infarction (STEMI) in young patients (aged less than 35 years). METHODS: We retrospectively surveyed 25 038 coronary angiography procedures, which were carried out at The Baskent University Adana Hospital from 1998 to present, to discover acute STEMI in young patients. We studied clinical risk factors and angiographic characteristics in 42 consecutive patients who underwent primary coronary angiography for acute STEMI. Control group (n=42) had no history of coronary artery disease and had angiographically proven normal coronary arteries. All patients were under 35 years of age. Angiographic features for STEMI group were collected and both groups were compared for coronary risk factors. RESULTS: Male sex was more prevalent in acute STEMI group when compared with control participants (83 vs. 59%, respectively; P=0.01). A significant difference was found in cigarette smoking (62 vs. 36%, respectively; P=0.007) and family history (33 vs. 16%, respectively; P=0.03) between the two groups. No statistical significance was observed between the groups in terms of hypertension, diabetes mellitus, total cholesterol, low-density lipoprotein cholesterol, and triglyceride levels. Mean high-density lipoprotein cholesterol level was 33+/-8 mg/dl in STEMI group and 39+/-12 mg/dl in control participants (P=0.02). Young patients with acute STEMI showed a preponderance of single-vessel disease (69%) and acute anterior STEMI (60%) owing to occluded left anterior descending artery (P<0.001). CONCLUSION: We observed risk factors such as family history, smoking, and low high-density lipoprotein cholesterol levels in young adults. Acute anterior STEMI owing to occluded left anterior descending artery was more frequent. Coronary atherosclerosis was characterized by higher presence of type B and proximal lesions. The handling selection was percutaneous coronary intervention in more than half of the patients.     

Exercise-induced changes in QT interval duration and dispersion in patients with isolated myocardial bridging

BACKGROUND: Isolated myocardial bridging (MB) often is considered to be an unimportant angiographic finding; however, its association with cardiovascular event has been shown. In this study we aimed to assess exercise-induced electrocardiographic (ECG) changes and susceptibility to arrhythmia in patients with MB. METHOD: 21 consecutive patients who had angiographically proven MB (group I) and 25 subjects (group II) who had normal coronary arteries underwent exercise test using Bruce protocol. Before and after the exercise test the changes in QT interval duration and dispersion were compared. RESULTS: Baseline characteristics of both groups were similar. Heart rate significantly increased after exercise test in both groups. In group I, after exercise mean QT(max) and QT(min) durations did not change significantly compared to baseline values, respectively. (QT(max): 411+/-20 vs. 421+/-18 ms, p>0.05 and QT(min): 380+/-12 vs. 378+/-10 ms, p>0.05). However, following exercise test QT dispersion (QT(d)) and corrected QT dispersion (QT(cd)) significantly increased when compared to baseline values, respectively. (34+/-13 vs. 66+/-14 ms, p<0.05 and 37+/-14 vs. 69+/-17 ms, p<0.05) On the other hand, in control group QT(max) and QT(min) durations, QT(c) and QT(cd) did not change significantly compared to baseline values, respectively. (QT(max): 408+/-18 vs. 412+/-17 ms, p>0.05 and QT(min): 390+/-11 vs. 387+/-10 ms, p>0.05; QT(d): 25+/-14 vs. 31+/-16 ms, p>0.05; QT(cd): 27+/-15 vs. 33+/-17 ms, p>0.05). CONCLUSION: Treadmill exercise test significantly increased QT dispersion in patients with MB. This increase may result from exercise-induced ischemia at the area perfused by bridged artery.     

A new syndrome with cardiac malformation,cleft lip-palate,microcephaly and digital anomalies?

A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.     

High prevalence of diabetes in Adana, a southern province of Turkey

OBJECTIVE: To determine the prevalence of diabetes and glucose intolerance and their relationship with risk factors in Adana, a southern province of Turkey, where risk factors are more prominent, probably because of social and economic reasons. RESEARCH DESIGN AND METHODS: The study population included 1637 randomly selected adults aged 20-79 years. Diagnosis of diabetes was based on plasma glucose values using the 1999 diagnostic criteria recommended by the World Health Organization. RESULTS: The crude prevalence of diabetes was 12.9% in men and 10.9% in women (P = 0.207). Total prevalence of diabetes was 11.6%. The screening process identified previously undiagnosed diabetes in 4.2% of individuals and impaired glucose homeostasis (consisting of impaired glucose tolerance and impaired fasting glucose) in an additional 4.3% of subjects. The prevalence of hypertension was 26.4% among men and 36.6% among women (P < 0.0001). Total prevalence of hypertension was 32.9%, and prevalence of obesity was 43.4%. Age, sex, BMI, waist circumference, hypertension, family history of diabetes, and triglycerides were independently associated with diabetes. CONCLUSIONS: The prevalence of diabetes in Adana is higher than expected in both urban and rural areas. Obesity and hypertension also seem to be common metabolic disorders in this area. Age, hypertension, obesity, high triglyceride level, and family history of diabetes are independently associated with diabetes. Therefore, primary prevention through lifestyle modifications may have a critical role in the control of diabetes.     

Maastricht Ⅱ treatment scheme and efficacy of different proton pump inhibitors in eradicating Helicobacter pylori

AIM: The Maastricht Ⅱ criteria suggest the use of amoxicillin and clarithromycin in addition to a proton pump inhibitor over 7-10 d as a first line therapy in the eradication of Helicobacter pylori(H pylori). For each proton pump inhibitor, various rates of eradication have been reported. The present study was to compare the efficacy of different proton pump inhibitors like omeprazole, lansoprazole and pantoprazole in combination with amoxicillin and clarithromycin in the first line eradication of H pylori and to investigate the success of H pylori eradication in our district.METHODS: A total of 139 patients were included having a Helicobacter pylori(+) gastroduodenal disorders diagnosed by means of histology and urease test. Besides amoxicillin (1 000 mg twice a day) and clarithromycin (500 mg twice a day), they were randomized to take omeprazole (20 mg twice a day), or lansoprazole (30 mg twice a day), or pantoprozole (40 mg twice a day) for 14 d. Four weeks after the therapy, the eradication was assessed by means of histology and urease test. It was evaluated as eradicated if the H pylori was found negative in both. The complaints (pain in epigastrium, nocturnal pain, pyrosis and bloating)were graded in accordance with the Licert scale. The compliance of the patients was recorded.RESULTS: The eradication was found to be 40.8% in the omeprazole group, 43.5% in the lansoprazole group and 47.4% in the pantoprazole group. Sixty-three out of 139patients (45%) had eradication. No statistically significant difference was observed between the groups. Significant improvements were seen in terms of the impact on the symptom scores in each group.CONCLUSION: There was no difference between omeprazole, lansoprazole and pantoprazole in H pylori eradication, and the rate of eradication was as low as 45%.Symptoms were improved independent of the eradication in each treatment group. The iow eradication rates suggest that the antibiotic resistance or the genetic differences of the microorganism might be in effect. Further studies are required to verify these suggestions.     

Frontal and occipital perfusion changes in dissociative identity disorder

There is some evidence that emotional reactivity to daily life stress is related to a genetic or familial liability to develop schizophrenia. However, it is unclear whether the emotional distress is elevated in schizophrenia patients with positive compared to negative family history. The aim of the study was to test the hypothesis that a persistent higher level of emotional distress in schizophrenia subjects is associated with a positive family history of schizophrenia. This study used the Talbieh Brief Distress Inventory (TBDI), the Positive and Negative Syndrome Scale (PANSS; including dysphoric mood, positive and negative subscales), Montgomery-Asberg Depression Rating Scale (MADRS), and the Distress Scale for Adverse Symptoms (DSAS) to investigate the difference in the magnitude of emotional distress scores between schizophrenia subjects with and without a positive family history of schizophrenia over time. Data were recorded for 69 multiplex family and 79 singleton patients at admission and about 16 months thereafter. No between-group differences were obtained in PANSS and DSAS scores. With regard to the TBDI: (a) both group of patients had no significant differences in emotional distress scores at admission; (b) patients with negative family history reported improvement in distress severity and depression severity (MADRS) 16 months after admission, while those with positive family history experienced persistent elevated emotional distress, mainly, on obsessiveness, and depression subscales; and (c) both groups of patients are characterized by elevated emotional distress at follow-up examination compared to healthy subjects. Thus, it appears that there is a strong association between positive family history and persistent elevated emotional distress. Because patients with positive and negative family history are likely to differ in genetic risk, our results suggest that long-term elevated levels of emotional distress may be related to a familial (environmental)/genetic vulnerability to schizophrenia.     

Pleural fluid and serum procalcitonin as diagnostic tools in tuberculous pleurisy

BACKGROUND: Diagnosis of tuberculous pleuritis is difficult because of its nonspecific clinical presentation and decreased efficiency of traditional diagnostic methods. We investigated the use of procalcitonin (PCT) concentration in tuberculous pleuritis diagnosis. METHODS: A prospective clinical study was performed with two different patient groups. A total of 28 patients were included: 18 with tuberculosis and 10 with nontuberculous pleurisy. Serum and pleural fluid PCT concentrations were evaluated before treatment. RESULTS: Serum and pleural fluid PCT concentrations were statistically different between tuberculous and nontuberculous pleurisy groups (P = 0.012 and P = 0.004, respectively), even though they were not elevated in relation to the cut-off level of 0.5 ng/mL. A positive and significant correlation was detected between serum and pleural fluid PCT levels (r = 0.49, P = 0.008). Diagnostic specificity and sensitivity values for serum and pleural fluid PCT in discriminating tuberculous from nontuberculous pleurisy were 80% and 72.2%, and 90% and 66.7% at the 0.081 and 0.113 ng/mL cut-off values, respectively. CONCLUSION: Relative to the current cut-off level of 0.5 ng/mL, PCT concentration is not a useful parameter for the diagnosis of tuberculous pleurisy. Because there were PCT levels in patients with tuberculous pleurisy that were below the current cut-off level but were significantly different from those of the nontuberculous group, the use of PCT should be further investigated.     

The frequency of the celiac disease among children with familial Mediterranean fever

We aimed to assess the frequency of celiac disease (CD) in patients with Familial Mediterranean Fever (FMF). This prospective study was carried out from October 2015 to March 2016 and included 303 patients with FMF. We used 98 sex- and age-matched healthy subjects as a control group. Levels of total IgA and tissue transglutaminase (tTG) IgA antibody were measured in all groups. Those with increased level of tTG IgA were tested for anti-endomysium IgA antibodies (EMA). Patients with positive EMA underwent gastro-duodenoscopy and intestinal biopsy for a definite diagnosis of CD. Only 9 of 303 patients (2.9%) were positive for tTG IgA. Patients positive for tTG IgA were then tested for EMA and only one of them (0.3%) had a positive result. This patient underwent gastro-duodenoscopy. The pathological report was compatible with Marsh 0 classification score for the diagnosis of CD. Two subjects from the control group were positive for tTG IgA but none of them had positive EMA antibodies. We did not find CD in the large cohort of childhood FMF patients. The prevalence of CD did not show association with presence of childhood FMF in this study and CD would not be a considerable complication of childhood FMF.