Is there a relationship among age,international index of erectile function,international prostate symptom score,and aging males’ symptoms score?

Purpose To investigate the relationship among the International Index of Erectile Function (IIEF), International Prostate Symptom Score (IPSS), and Aging Males’ Symptoms (AMS) scale scores in various age groups of males. Patients and methods A total of 307 male patients enrolled in the study. Mean age was 52.3 (range 21–77) years. Group 1 consisted of 51 (≤39 years), Group 2 consisted of 160 (40–59 years), and Group 3 consisted of 96 (≥60 years) patients. First five and 15th questions of the IIEF, IPSS, and AMS scale were replied by all the patients. The patients were assessed based on the IIEF for erectile dysfunction (ED), IPSS for lower urinary tract symptoms (LUTS), and AMS scale for Symptomatic Late-Onset Hypogonadism (SLOH). Results ED, LUTS, and SLOH symptoms were detected in 236 (76.8%), 162 (52.8%), and 184 (59.9%) patients. Except for total AMS scores, IIEF and IPSS scores were significantly different among the groups (p _AMS = 0.320, p _IIEF = 0.000, p _IPSS = 0.000). In the comparisons of the IIEF scores between the each group, significant differences were observed (p _{Group1–Group2} = 0.000, p _{Group1–Group3} = 0.000, p _{Group2–Group3} = 0.000). Nevertheless, IPSS score was significantly lower in the patients with age ≤39 years than the other age groups (p = 0.000). Conclusions In the present study, ED ratio and LUTS severity significantly increased in older men. We did not find significant relationship between aging and SLOH symptoms. In the light of our results, LUTS seems to be an important risk factor on erectile function.     

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

Alzheimer's disease (AD) is a genetically complex disorder for which the definite diagnosis is only accomplished postmortem. Mutations in 3 genes (APP, PSEN1, and PSEN2) are known to cause AD, but a large number of familial cases do not harbor mutations in these genes and several unidentified genes that contain disease-causing mutations are thought to exist. We performed whole exome sequencing in a Turkish patient clinically diagnosed with Alzheimer's disease from a consanguineous family with a complex history of neurological and immunological disorders and identified a mutation in NOTCH3 (p.R1231C), previously described as causing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Complete screening of NOTCH3 in a cohort of 95 early onset AD cases and 95 controls did not reveal any additional pathogenic mutations. Although the complex history of disease in this family precluded us to establish segregation of the mutation found with disease, our results show that exome sequencing is a rapid, cost-effective and comprehensive tool to detect genetic mutations, allowing for the identification of unexpected genetic causes of clinical phenotypes. As etiological based therapeutics become more common, this method will be key in diagnosing and treating disease.     

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients

In order to assess the frequency of mutations in the known Alzheimer's disease causative genes in Turkish dementia patients we screened amyloid precursor protein (APP), PSEN1 and PSEN2 for mutations in a cohort of 98 Turkish dementia families. Six families were found to carry PSEN1 mutations (p.H163R, p.P264L, and p.H214Y) or variants suggested to cause the disease (p.L134R, p.L262V, and p.A396T). In 4 other families, previously reported PSEN2 variants were identified (p.R62H, p.R71W, p.M174V (n = 2), and p.S130L). The phenotype of the carriers varied from rapid progressing Alzheimer's disease to frontotemporal dementia, with spasticity and seizures also observed. Here we report a frequency of 11.2% of mutations and variants in the known Alzheimer disease genes in the dementia cohort studied and 24% in the early onset subgroup of patients, suggesting that mutations in these genes are not uncommon in Turkey and are associated with various phenotypes. We thus believe that genetic analysis should become a standardized diagnostic implement, not only for the identification of the genetic disease, but also for appropriate genetic counseling.     

Differentiating symptomatic Parkin mutations carriers from patients with idiopathic Parkinson's disease: contribution of automated segmentation neuroimaging method

BackgroundParkin (PARK2) gene mutations are the predominant cause of autosomal recessive parkinsonism. Characteristic features include: early onset symptoms with slow clinical course, good response to low doses of levodopa, and frequently treatment-induced dyskinesia. Studies using a voxel-based morphometry approach showed a decrease in the gray matter volume of the basal ganglia in mutation carriers during the symptomatic stages. A bilateral, presumably compensatory increase of basal ganglia gray matter value was recently demonstrated in asymptomatic Parkin mutation carriers. Behavioral disorders including: anxiety, psychosis, panic attacks, depression, disturbed sexual, behavioral and obsessive–compulsive disorders have been reported in these patients.MethodA total of 28 Parkinson’s Disease (PD) patients consisting of 10 Young-Onset without Parkin mutations (YOPD), 9 Young-Onset with Parkin mutations (YOPD-p), 9 Late-Onset without Parkin mutations (LOPD) and 32 healthy control subjects were studied with an automated volumetric assessment method to quantify subcortical atrophy. Patients but not controls also underwent a neuropsychological and neuropsychiatric assessment.ResultsResults revealed a reduction of bilateral caudate nuclei volumes in YOPD-p patients compared to the YOPD patients while there were no statistically significant differences between other groups. YOPD-p patients showed similar results to other patient groups on neuropsychiatric and neuropsychological evaluation measures.ConclusionYOPD-p and YOPD patients showed a different pattern of volume changes in basal ganglia. Despite its relatively benign clinical course, carrying the Parkin mutation seems to be associated with greater atrophy in subcortical structures. Failure of compensatory mechanisms, different mutation types and pathophysiologic processes may underlie this diverse pattern of subcortical brain changes.     

Effects of primary suture and fibrin sealant on hemostasis and liver regeneration in an experimental liver injury

AIM： To investigate the effects of fibrin sealant on hemostasis and liver regeneration and intra-abdominal adhesions in an experimental liver injury. METHODS： Thirty-six Wistar rats were randomly divided into primary suture group （n = 15）, fibrin sealant group （n = 15） and control group （n = 6）. A wedge resection was performed on the left lobe of the liver. In primary suture group, liver was sutured using polypropylene material, while fibrin glue was administrated on the liver surface in fibrin sealant group. RESULTS： More intra-abdominal adhesions were observed in the primary suture group compared to the fibrin sealant group on 3rd （2.50 ± 0.5 vs 0.25 ± 0.5, P = 0.015）, 10^th （2.75 ± 0.5 vs 0.50 ± 0.6, P = 0.06） and 20^th （1.75 ± 0.5 vs 0.70 ± 0.5, P = 0.015） postoperative days. Histopathological scores were better in the fibrin sealant group in comparison with the primary suture group on 3rd （8.75 ± 0.5 vs 6.75 ± 0.5, P = 0.006）, 10th （7.50 ± 1.0 vs 5.5 ±0.6, P = 0.021） and 20th （6.40 ± 1.7 vs 3.20 ± 1.6, P = 0.025） postoperative days. CONCLUSION： Out data suggest that fibrin sealant is preferred over primary suture in appropriate cases including liver trauma since it causes less intra-abdominal adhesions while allowing shorter hemostasis time as assessed in experimental liver trauma.