Genotype–Phenotype Correlations by Ethnicity and Mutation Location in BRCA Mutation Carriers

The genotype–phenotype correlations of the specific BRCA1 and BRCA2 mutations in multi‐ethnic populations in USA have not yet been fully investigated. This study was designed to evaluate the effects of ethnicity at specific mutation locations and breast/ovarian cancer phenotypes. Our cohort included 445 women with different ethnic backgrounds who underwent BRCA genetic testing between 1997 and 2010. Known clinical and pathologic characteristics were compared with Chi‐Square Analysis or Fisher's Exact test as appropriate. The three most common mutation locations in BRCA1 (exons 2, 11, and 20) and BRCA2 (exons 10, 11, and 25) genes were chosen. Prevalence of BRCA1 exon 2 mutations were significantly higher in Ashkenazi Jewish (AJ) women compared to Caucasians (41% versus 15%; p = 0.001). Similarly, AJ women with breast cancer were more likely to have BRCA1 exon 2 mutation (47% positivity in AJ women versus 0–12.5% positivity in other ethnicities; p = 0.004). Women carrying the exon 20 BRCA1 mutation had the highest probability of having combined breast and ovarian cancers compared to women carrying other exon mutations (p = 0.05). The median age at initial cancer diagnosis, phenotypic features of breast cancer tumors, and overall survival did not vary significantly by ethnicity or mutation location. Our data suggest that ethnicity does not affect age of onset, overall survival or confer different risks of breast and ovarian cancer development in BRCA carriers. These results also suggest that women carrying the exon 20 BRCA1 mutation may warrant mutation‐specific counseling and be more aggressively managed for risk reduction.     

Clinical outcomes and mortality in elderly peritoneal dialysis patients

OBJECTIVES:

To evaluate the clinical outcomes and identify the predictors of mortality in elderly patients undergoing peritoneal dialysis.

METHODS:

We conducted a retrospective study including all incident peritoneal dialysis cases in patients ≥65 years of age treated from 2001 to 2014. Demographic and clinical data on the initiation of peritoneal dialysis and the clinical events during the study period were collected. Infectious complications were recorded. Overall and technique survival rates were analyzed.

RESULTS:

Fifty-eight patients who began peritoneal dialysis during the study period were considered for analysis, and 50 of these patients were included in the final analysis. Peritoneal dialysis exchanges were performed by another person for 65% of the patients, whereas 79.9% of patients preferred to perform the peritoneal dialysis themselves. Peritonitis and catheter exit site/tunnel infection incidences were 20.4±16.3 and 24.6±17.4 patient-months, respectively. During the follow-up period, 40 patients were withdrawn from peritoneal dialysis. Causes of death included peritonitis and/or sepsis (50%) and cardiovascular events (30%). The mean patient survival time was 38.9±4.3 months, and the survival rates were 78.8%, 66.8%, 50.9% and 19.5% at 1, 2, 3 and 4 years after peritoneal dialysis initiation, respectively. Advanced age, the presence of additional diseases, increased episodes of peritonitis, the use of continuous ambulatory peritoneal dialysis, and low albumin levels and daily urine volumes (<100 ml) at the initiation of peritoneal dialysis were predictors of mortality. The mean technique survival duration was 61.7±5.2 months. The technique survival rates were 97.9%, 90.6%, 81.5% and 71% at 1, 2, 3 and 4 years, respectively. None of the factors analyzed were predictors of technique survival.

CONCLUSIONS:

Mortality was higher in elderly patients. Factors affecting mortality in elderly patients included advanced age, the presence of comorbid diseases, increased episodes of peritonitis, use of continuous ambulatory peritoneal dialysis, and low albumin levels and daily urine volumes (<100 ml) at the initiation of peritoneal dialysis.     

Oral complaints of denture-wearing elderly people living in two nursing homes in istanbul, Turkey

Aim: The aim of this study was to observe and determine oral complaints of people aged 55 years or older, living in two nursing homes in Istanbul, Turkey, and their satisfaction with their complete or partial dentures by means of a simple questionnaire. Methods: Two old peoplea??s homes (one public and one private) in the district of Uskudar in Istanbul agreed to take part in this study. All residents who were available were invited to answer a piloted nine-point questionnaire with questions on age, gender, physical problems, eating, and communication, aesthetic denture wearing and psychological problems. The questions were asked in person by one investigator. The resulting data were entered into SPSS version 15. Results: Out of a total of 210 residents, 130 (61.9%) took part in the study, of whom 53% (n=71) of residents were living in the private nursing home and 60% (n=81) were female. One hundred and five (80%) were denture wearers. More than half of the residents (59%, n=79) were over 75 years old. Problems were mostly seen in older ages, especially those over 75 years old, over 60% of whom reported problems for all the variables listed in the questionnaire. Women were more aware of halitosis than men. Conclusions: The results of this study confirm those of previous studies and suggest that elderly people with dentures, and particularly complete dentures, frequently complain of a wide range of problems including: eating, social interaction and communication and these problems have a detrimental influence on their quality of life.     

Relationship of olfactory function with olfactory bulbus volume,disease duration and Unified Parkinson’s disease rating scale scores in patients with early stage of idiopathic Parkinson’s disease

We aimed to investigate the relationship between olfactory function and olfactory bulbus (OB) volume, disease duration and Unified Parkinson’s disease rating scale (UPDRS) scores in early stage idiopathic Parkinson’s disease patients. The University of Pennsylvania Smell Identification Test (UPSIT) was used for the evaluation of olfactory function. UPSIT scores for patients with Parkinson’s disease were significantly lower than controls. There was no significant difference between stage 1 and stage 2 patients. OB volumes were higher in stage 1 and 2 patients than controls, but there was no statistical difference between the three groups. No significant correlation was found between UPSIT and UPDRS total scores, nor between UPSIT scores and disease duration in stage 1 and 2 patients. According to our results, we propose UPSIT be used as a screening test to diagnose presymptomatic patients, but not OB volumes.     

Influence of Ankaferd Blood Stopper on shear bond strength of bonding systems

This study investigated the effect of Ankaferd Blood Stopper (ABS) contamination on bond strength of total- and self-etching systems. Seventy mandibular third molars sectioned in a mesio-distal direction were mounted in acrylic resin, and flat dentin surfaces were exposed. The specimens were randomly assigned to seven groups (n=20), according to the surface treatment: Group I, ABS contamination+37% phosphoric acid+Solobond M; Group II, ABS contamination+Clearfil SE Bond; Group III, ABS contamination+All Bond SE; Group VI, 37% phosphoric acid+ABS contamination+Solobond M; Group V, Solobond M; Group VI, Clearfil SE Bond; and Group VII, All Bond SE. Next, a resin composite (Grandio) was built up using a plastic apparatus and polymerized. The specimens were tested in shear mode at a crosshead speed of 1 mm/min. There were significant differences in bond strengths between the control and ABS-contaminated samples. These findings suggest that ABS contamination reduced bond strength of total- and self-etching adhesives.     

Design,synthesis, and in vitro biological evaluation of novel thiazolopyrimidine derivatives as antileishmanial compounds

A series of thiazolopyrimidine derivatives was designed and synthesized as a Leishmania major pteridine reductase 1 (LmPTR1) enzyme inhibitor. Their LmPTR1 inhibitor activities were evaluated using the enzyme produced by Escherichia coli in a recombinant way. The antileishmanial activity of the selected compounds was tested in vitro against Leishmania sp. Additionally, the compounds were evaluated for cytotoxic activity against the murine macrophage cell line RAW 264.7. According to the results, four compounds displayed not only a potent in vitro antileishmanial activity against promastigote forms but also low cytotoxicity. Among them, compound L16 exhibited an antileishmanial activity for both the promastigote and amastigote forms of L. tropica, with IC₅₀ values of 7.5 and 2.69 µM, respectively. In addition, molecular docking studies and molecular dynamics simulations were also carried out in this study. In light of these findings, the compounds provide a new potential scaffold for antileishmanial drug discovery.     

Investigation of serum vitamin D and ischaemia-modified albumin levels in infertile Turkish men

Our aim was to explore the existence of a possible relationship of sperm motility with serum 25-hydroxyvitamin D3 (25-OH VD) levels and with ischaemia-modified albumin ( IMA) levels in infertile Turkish men. A total of 30 men with nonobstructive azoospermia (no spermatozoa in ejaculate), 30 men with oligospermia (total progressive motile sperm count (TPMSC) <15 × 10⁶/ml) and 33 fertile men with normospermia (with at least one child, as the control group) were enrolled in the study. The mean 25-OH VD levels for groups 1, 2 and 3 were 9.31 ± 6.46, 19.71 ± 12.80 and 30.52 ± 12.49 respectively (p < .05). There was a statistically significant difference in serum IMA levels among the groups (479.32 ± 307.56 vs. 296.37 ± 127.27 vs. 150.04 ± 81.05, respectively; p < .05). A positive correlation between serum 25-OH VD levels and TPMSC, and a negative correlation between TPMSC and serum IMA levels were determined. Infertile men had lower serum 25-OH VD and higher IMA levels than fertile men, with a positive correlation between serum 25-OH VD levels and TPMSC, and a negative correlation between TPMSC and serum IMA levels. Vitamin D supplementation may increase the sperm motility.     

Relationship Between Inflammation and Sex Hormone Profile in Female Patients Receiving Different Types of Renal Replacement Therapy

Background

Patients with end-stage renal disease (ESRD) experience female sexual dysfunction (FSD). The purpose of this study was to compare FSD in different types of renal replacement therapy and control patients.

Methods

The study was consisted of 47 renal transplantation (RT), 46 hemodialysis (HD), and 28 continuous ambulatory peritoneal dialysis (CAPD) patients and 36 healthy control subjects. All groups were evaluated with the following scales: Female Sexual Function Index (FSFI) questionnaire, Short Form (SF)–36 questionnaires, and Beck Depression Inventory (BDI). Demographic data, laboratory values, and hormone levels were obtained. The patients with FSFI score <26.55 were accepted as experiencing sexual dysfunction.

Results

Overall, total FSFI scores in RT, HD, CAPD, and control were 22 (range, 2–35), 22.4 (4–34), 18.35 (2–34), and 29.6 (2–35), respectively. The mean total FSFI score was not different in patients receiving different kinds of renal replacement therapy (P > .05) although they were significantly worse then the control group (P < .001). On regression analysis, age was significantly associated with FSD (β = −0.14; P = .001). In addition, the physiologic health domain of SF-36 was significantly better in control groups (P < .001). The difference in terms of mean of BDI score did not reach statistical significance among patient groups (P > .05). Female sexual dysfunction score was negatively correlated with BDI (r = −0.371; P < .001) and positively correlated with the mental-physical components score of SF-36 (r = 0.423 [P < .001] and r = 0.494 [P < .001], respectively) in all patients groups. Regarding the hormones of the patients, there was a significant difference between RT and the HD and CAPD groups in dihydroepiandrosterone sulfate (DHEAS; P < .001), RT and HD in prolactin (P < .001), and RT and CAPD in free testesterone (P < .001).

Conclusions

Renal transplantation, hemodialysis, and peritoneal dialysis patients were at more risk of developing sexual dysfunction and lower quality of life scores than healthy subjects. Notably, the mode of renal replacement therapy had no impact on female sexual function.     

A prospective randomized trial from Turkey comparing octreotide versus injection sclerotherapy in acute variceal bleeding

BACKGROUNDS/AIMS: Bleeding from gastroesophageal varices continues to be a life threatening complication of chronic liver diseases and portal hypertension. The purpose of this randomized prospective study is to compare the efficacy of octreotide administration and emergency injection sclerotherapy for the control of actively bleeding esophageal varices and prevention of early rebleeding in patients with cirrhosis. METHODOLOGY: A total of 66 episodes of endoscopically proven active variceal bleeding in 52 patients were included in this study. Following admission to the hospital, the patients were resuscitated with blood and plasma, and fiberoptic endoscopy was performed within 2 hours. Thirty-six bleeds in 28 patients and 30 bleeds in 24 patients were randomized to endoscopic variceal sclerotherapy (1% polidocanol) and to octreotide infusion (at 50 micrograms/h for 12 hours following the initial 50 micrograms i.v. bolus), respectively. RESULTS: Bleeding was initially controlled within 6 hours in 75% of episodes by endoscopic variceal sclerotherapy and in 73.3 by octreotide infusion (P > 0.05). There were no significant differences between the 2 groups in early rebleeding (within 72 hours of randomization) (22% vs. 22.7%), blood transfusion (4.2 +/- 1.8 units vs. 4.8 +/- 2.9 units), or hospital mortality (3.6% vs. 3.3%). Treatment failed in 9 episodes (25%) in the sclerotherapy group and in 8 episodes (26.7%) in the octreotide group. CONCLUSIONS: We consider that Octreotide would appear to be as effective as sclerotherapy in both the early control of variceal hemorrhage and in the prevention of early recurrent bleeding and should therefore be considered the treatment of choice in those centers where 24-hour endoscopy is not available. Furthermore, even in hospitals that do have a 24-hour endoscopy service there is good evidence that octreotide therapy should be commenced as soon as a patient enters hospital with a suspected variceal bleed to achieve rapid homeostasis. When initial hemostasis is achieved, elective endoscopic therapies can be undertaken with greater success.     

Amyloid goiter related with Crohn's disease: A rare association: Amyloid goiter secondary to Crohn's disease

INTRODUCTION

Amyloid goiter (AG) is characterized by enlargement of the thyroid gland as a result of extensive amyloid deposition in a bilateral and diffuse manner.

PRESENTATION OF CASE

A 58-year-old male patient was diagnosed of Crohn''s Disease (CD). He was admitted to our clinic with complaint of respiratory distress and rapid growth swelling in the neck. Ultrasound examination revealed huge multinodular goiter on both sides of thyroid gland. We performed bilateral total thyroidectomy. Pathological evaluation revealed AG.

DISCUSSION

Amyloid leads to degeneration in tissues, thereby disrupts the function of the relevant organs. It is important to distinguish AG from other reasons of goiter, particularly thyroid medullary cancer that can cause amyloid deposition in thyroid gland. Secondary amyloidosis frequently involves thyroid gland at microscopic level, but rarely causes goiter. An analysis of current literature revealed that only few cases of AG occurred secondary to CD. Herein we presented a case of AG who has rapidly growing goiter that associated with CD.

CONCLUSION

AG must be kept in mind in case of rapidly growing goiter, especially in patients with chronic inflammatory bowel diseases.