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.     

Optimization and synthesis of silver nanoparticles using Isaria fumosorosea against human vector mosquitoes

The efficacy of silver generated larvicide with the help of entomopathogenic fungi, Isaria fumosorosea (Ifr) against major vector mosquitoes Culex quinquefasciatus and Aedes aegypti. The Ifr-silver nanoparticles (AgNPs) were characterized structurally and functionally using UV-visible spectrophotometer followed by scanning electron microscopy (SEM), energy-dispersive X-ray (EDX) spectroscopy and Fourier transform infrared (FTIR) spectra. The optimum pH (alkaline), temperature (30 °C) and agitation (150 rpm) for AgNP synthesis and its stability were confirmed through colour change. Ae. aegypti larvae (I–IV instars) were found highly susceptible to synthesized AgNPs than the larvae of Cx. quinquefasciatus. However, the mortality rate was indirectly proportional to the larval instar and the concentration. The lethal concentration that kills 50 % of the exposed larvae (LC₅₀) and lethal concentration that kills 90 % of the exposed larvae (LC₉₀) values of the tested concentration are 0.240, 0 0.075.337, 0.430, 0.652 and 1.219, 2.210, 2.453, 2.916; 0.065, 0.075, 0.098, 0.137 and 0.558, 0.709, 0.949, 1.278 ppm with respect to 0.03 to 1.00 ppm of Ifr-AgNPs against first, second, third and fourth instars of Cx. quinquefasciatus and Ae. aegypti, respectively. This is the first report for synthesis of AgNPs using Ifr against human vector mosquitoes. Hence, Ifr-AgNPs would be significantly used as a potent mosquito larvicide.     

Early pregnancy induced expression of prostaglandin E2 receptors EP2 and EP4 in the ovine endometrium and regulated by interferon tau through multiple cell signaling pathways

Prostaglandin E2 (PGE₂) plays pleiotropic roles at fetal-maternal interface during establishment of pregnancy. The objectives of the study were to: (i) determine regulation of PGE2 receptors EP1, EP2, EP3, and EP4 in the endometrium during the estrous cycle and early pregnancy; and (ii) understand endometrial epithelial and stromal cell-specific hormonal regulation of EP2 and EP4 in sheep. Results indicate that: (i) early pregnancy induces expression of EP2 and EP4 but not EP1 and EP3 proteins in the endometrium on days 12-16 compared to that of estrous cycle; (ii) intrauterine infusion of interferon tau (IFNT) increases expression of EP2 and EP4 proteins in endometrium; and (iii) IFNT activates distinct epithelial and stromal cell-specific JAK, EGFR, ERK1/2, AKT, or JNK signaling module to regulate expression of EP2 and EP4 proteins in the ovine endometrium. Our results indicate a role for EP2 and EP4-mediated PGE₂ signaling in endometrial functions and establishment of pregnancy in ruminants.     

Short-term antidepressant treatment of comorbid dental anxiety in patients with panic disorder

Objectives. The aims of this study were to determine the frequency of dental anxiety (DA) and dental phobia (DP) in panic disorder, and to follow the changes in DA levels during antidepressant treatment of panic disorder. Methods. Fifty-three controls and 102 panic disorder patients were assessed using the Structured Clinical Interview (SCID), the Panic-Agoraphobia Scale (PAS), and the Corah Dental Anxiety Scale (DAS). Oral health status was defined by the number of decayed, missing, and filled teeth (DMFT) index. The patients were classified into three groups: (1) those without dental anxiety (WDA), (2) those with dental anxiety (DA), and (3) those with dental phobia (DP). All patients were treated with antidepressants for 3 months and the response rates were assessed. Results. At baseline, DAS was significantly higher in both the DA and the DP groups than in the control group. Ten (9.8%) of the panic disorder patients fulfilled the diagnostic criteria for DP; 31 (30.4%) had severe DA. In the control group, none of the patients was diagnosed as DP, whereas 7 (13.5%) had severe DA. Panic disorder and DA both responded to the antidepressant treatment, but DAS scores remained significantly higher in the DP group than in the DA group and the control group at the end of the third month. Conclusions. Our data suggest that both DA and DP are more frequent in panic disorder than in healthy controls. Antidepressant treatment may have been helpful in decreasing DA levels in the DA group but not in the DP group.     

Is Interleukin‐17 Involved in the Interaction Between Polycystic Ovary Syndrome and Gingival Inflammation?

Background: Polycystic ovarian syndrome (PCOS) is a hormonal disorder of females of reproductive age that impacts their oral and systemic health. The aim of this study is to evaluate interleukin‐17A (IL‐17A), IL‐17F, IL‐17A/F, and IL‐17E (IL‐25) levels in gingival crevicular fluid (GCF), saliva, and serum of non‐obese females with PCOS and with either a clinically healthy periodontium or gingivitis. Methods: Thirty‐one females with PCOS, 30 females with PCOS and gingivitis, and 12 systemically and periodontally healthy females participated in the study. Clinical periodontal measurements, body mass index, and Ferriman‐Gallwey score (FGS) (a measure of hirsutism in females) were recorded. Circulating levels of sex hormones, cortisol, and insulin were also determined. Levels of IL‐17 cytokines were measured by enzyme‐linked immunosorbent assay. Results: The general linear model multivariate analysis, adjusting for age or plaque index, showed that the two groups with PCOS had higher concentrations of IL‐17A, IL‐17F, and IL‐17A/F in serum and higher levels of IL‐17A and IL‐17F in GCF and saliva but lower serum IL‐17E than systemically healthy females. Levels of IL‐17E were lowest in females with PCOS and gingivitis who also had the highest FGS. Serum IL‐17A and IL‐17F levels correlated positively with FGS and periodontal probing depth (all ρ >0.33; P <0.005). Serum IL‐17E showed the reverse relationship and also correlated negatively with IL‐17A (ρ >?0.28; P <0.05). Conclusions: IL‐17 levels are altered in non‐obese females with PCOS and may influence gingival inflammation. Additional studies are warranted to clarify the relationship between PCOS and gingivitis.     

An unresolved discussion: presence of premature ejaculation and erectile dysfunction in lumbar disc hernia

Purpose

Premature ejaculation (PE) and erectile dysfunction (ED) are both frequent diseases with several questions about the aetiological factors for these disorders. Lumbar disc herniation (LDH), which can cause both neurological and physiological impairments, may be a causative reason. We prospectively tried to evaluate the presence of PE and ED in patients with LDH and identify the effect of both surgical and physical therapy treatments for LDH on PE and ED.

Methods

A total of 50 patients with LDH and a corresponding control group without LDH at an age of 18–50 years were included in the study. Both PE and ED were evaluated with premature ejaculation diagnostic tool (PEDT) and International Index of Erectile Function. Mean intravaginal ejaculatory latency time (IELT) was calculated at their 5 consecutive intercourse. Physical therapy or microdiscectomy was performed according to indication. After 6 months of follow-up, patients in treatment group were re-evaluated for PE and ED.

Results

Mean age of study and control group was 34.1 ± 3.3 and 34.2 ± 4.0 years, respectively (p = 0.979). In LDH group, IELT was <1 min in 12 (24 %), 1–2 (16 %) min in 8, 2–3 min in 7 (14 %), 3–4 min in 7 (14 %) and 4 or more minutes in 16 (32 %) patients. These numbers were 11 (22 %), 8 (16 %), 5 (10 %), 9 (18 %) and 17 (34 %) in control group, respectively. Mean PEDT score of patients who had IELT < 1 min was 11.9 ± 2.1 and 10.7 ± 2.1 in study and control group, whereas it decreased to 1.0 ± 2.8 and 0.5 ± 1.8 as IELT increased over 4 min, respectively. There were 11 (22 %) patients with ED in LDH group, whereas there were only 2 (4 %) in control group (p = 0.017). Twenty patients with LDH underwent surgery while 30 had been taken into physical therapy. After 6 months, patients with PE significantly decreased in both surgery and physical therapy group (p = 0.025 and p = 0.046). Patients with ED also decreased after treatment, but the numbers were so limited for statistical evaluation.

Conclusion

Although ED was more frequent in patients with LDH, PE was similar in both study and control groups, but the treatment of LDH had positive effects on PE and ED.     

The effects of chronic periodontitis and rheumatoid arthritis on serum and gingival crevicular fluid total antioxidant/oxidant status and oxidative stress index

Background: Chronic periodontitis (CP) and rheumatoid arthritis (RA) appear to share many pathologic features. Oxygen metabolism has an important role in the pathogenesis of both CP and RA. The aim of this study is to evaluate the relationship between these two chronic inflammatory diseases with regard to antioxidant and oxidant status. Methods: A total of 80 participants were divided into four groups of 20 each: group RA–CP (patients with RA and CP), group RA (periodontally healthy patients with RA), group CP (systemically healthy patients with CP), and group C (periodontally and systemically healthy volunteers) were included in the study. After assessment of periodontal measurements, gingival crevicular fluid (GCF) samples were taken at one incisor, premolar, and molar tooth and stored with serum samples at ?80°C for the antioxidant/oxidant assay. Results: Although all clinical measurements in groups RA–CP and CP were statistically higher compared to those of C and RA groups (P <0.001), there were no differences between CP and RA–CP groups (P >0.05). GCF total oxidant status (TOS) values of CP and RA–CP groups were higher than those of the RA group (P <0.05). GCF oxidative stress index (OSI) values of the RA–CP group were higher than those of the RA group (P <0.05). There were no differences among the groups in terms of serum TOS and OSI values (P >0.05). Conclusions: Local OSI values in groups with patients with CP were higher, whereas systemic OSI values showed no difference among the groups. The presence of RA seems not to affect local and systemic OSI values in patients with CP.     

Clinical and cognitive profiles of patients with both Parkinson’s disease and essential tremor

Although Parkinson’s disease (PD) and essential tremor (ET) are distinct clinical disorders, their coexistence can sometimes cause diagnostic problems. In this study, we conducted detailed investigations of patients with both ET and PD (ET–PD) and compared their clinical and cognitive profiles with those of patients with only ET or only PD. This study examined three groups of patients: the first group had ET–PD concomitantly (n = 9); the second group had only ET (n = 9); the third group had only PD (n = 10). The groups were compared in terms of demographic characteristics, clinical features, and cognitive functions. With the exception of positive family histories, which were more common in ET–PD than in PD patients, we found no differences among the groups with respect to demographic characteristics (p = 0.044). PD-only patients had more akinetic-rigid type Parkinsonism (p = 0.016), and their levodopa response was better than that of ET–PD patients (p = 0.017). Patients with ET–PD obtained significantly lower scores than those with pure ET on several cognitive tests, suggesting a prominent frontal-type cognitive dysfunction. In conclusion ET–PD patients differed from PD patients, showing more frequent familial tremor histories and lower levodopa responsiveness. This patient population also demonstrated more severe cognitive impairments than pure-ET patients. This result suggests that ET–PD patients are a subset of ET patients with more widespread neurodegeneration, which may indicate the presence of a syndrome that includes overlap between ET and PD.