BackgroundFamilial adenomatous polyposis (OMIM #175100) and MUTYH-associated polyposis (OMIM #608456) are rare cancer-prone disorders characterized by hundreds of adenomatous polyps in the colon and rectum, which have a high probability of malignant transformation. Attenuated familial adenomatous polyposis is a variant of familial adenomatous polyposis, which is a term used for the condition in which patients have less than 100 colorectal polyps. Germline heterozygous Adenomatous polyposis coli (APC) and biallelic MUTYH (mutY DNA glycosylase) pathogenic variations are responsible for familial adenomatous polyposis and MUTYH-associated polyposis respectively. The aim of this study is to discuss the clinical manifestations of patients having pathogenic APC and MUTYH variations.MethodsWe included 27 probands who have more than 10 colonic polyps in this study. After evaluation of their clinical and family histories, the probands were screened for APC and MUTYH variations via next generation sequencing. The family members of the probands carrying pathogenic variations were screened via Sanger sequencing. ResultsAmong 27 probands, pathogenic APC and MUTYH variations were detected in 3 and 6 probands respectively. In the APC gene, 3 novel truncating variations (p.Leu360*, p.Leu1489Phefs*23, and p.Leu912*) were detected in 3 unrelated probands. In the MUTYH gene, only 2 distinct pathogenic variations were detected (p.Pro295Leu and p.Glu480del) in the homozygous or compound heterozygous state.ConclusionIn this study, molecular etiology was clarified in 9 familial polyposis patients. The p.Pro295Leu and p.Glu480del variations seem to be common in the Turkish population and may be considered as a first-step genetic test in Turkish familial polyposis patients showing autosomal recessive inheritance. However more studies are needed to reveal the exact frequency of these variations. 相似文献
Purpose: The aim of this study was to investigate the effects of connective tissue manipulation (CTM) and Kinesio Taping® (KT) on constipation and quality of life in children with cerebral palsy (CP).Method: This study was designed as a randomized controlled trial. Forty children diagnosed with chronic constipation based on Rome III criteria were randomly assigned to CTM group [6 females, 7 males; 8 y 6?mo (SD = 3y 4?mo)], KT group [7 female, 7 male; 8y 7?mo (SD =3y 5?mo)] or control group [6 female, 7 male; 8y 3?mo (SD = 3y 6?mo)]. All patients were assessed with 7-day bowel diaries, Bristol Stool Form Scale (BSFS), Visual Analog Scale (VAS), and Pediatric Quality of Life Inventory (PEDsQL). Kruskal-Wallis, Wilcoxon’s signed-rank, and Mann–Whitney U tests were used to determine intra-group and inter-group differences. The level of significance was p?0.05.Results: Among the CTM, KT, and control groups, there were statistically significant differences regarding the changes in defecation frequency (2.46, 3.00, 0.30, ES 1.16, p?0.001), duration of defecation (5.07, 5.35, 0.15, ES 2.37, p?=?0.003), BSFS (1.84, 2.14, 0.07, ES 0.91, p?0.001), VAS (4.83, 3.87, 0.23, ES 1.98, p?0.001), and PEDsQL total scores (7, 14, 8.36, ?0.85, ES 4.08, p?0.001).Conclusions: This study revealed that CTM and KT seem equally effective physiotherapy approaches for the treatment of pediatric constipation and these approaches may be added to bowel rehabilitation program.
Implications for rehabilitation
CTM and KT have similar effectiveness in alleviating the constipation-related symptoms and improving quality of life in children with CP.
CTM and KT can be integrated into bowel rehabilitation programs.
Considering the characteristics of patients, these treatment options can be used as an alternative of each other by physiotherapists.
Microalgae are photosynthetic organisms that produce valuable metabolites as a result of being constantly exposed to stress conditions such as high or low temperature, high salinity, osmotic pressure, photo-oxidation, and ultraviolet radiation. These valuable metabolites drew attention from cosmetic and cosmeceutical industries to be used in anti-aging, sunscreen, and skin whitening products. Microalgal secondary metabolites can have anti-blemish or anti-microbial effect; can also repair and heal skin, protect skin from UV damage, and prevent inflammation. Existing cosmetic products can be replaced by microalgae derived cosmetic products which are environment-friendly and safe which make them publicly important since people want to have products as natural as possible. Currently some microalgal derived products are commercially available and biotechnology of microalgae is getting more and more developed every day which will be resulted in more commercial products in short period of time. This review highlights the potential of microalgae species and, bioactive molecules derived by them in trending natural cosmetics with a special emphasis on application areas and production steps. 相似文献
Involvement of right-sided heart chambers (RSHCs) in patients infected with human immunodeficiency virus (HIV) is common and is usually attributed to pulmonary arterial or venous hypertension (PH). However, myocardial involvement in patients with HIV is also common and might affect RSHCs even in the absence of overt PH. Our aim was to define morphologic and functional alterations in RSHC in patients with HIV and without PH.
Methods and Results
A total of 50 asymptomatic patients with HIV and 25 control subjects without clinical or echocardiographic signs for PH were included in the study. Transthoracic echocardiography was used to obtain measurements. Patients with HIV had significantly increased right ventricular end-diastolic diameter (RVEDD) and right ventricular free wall thickness (RVFWT), as well as increased right atrial area and pulmonary arterial diameter, compared with control subjects. After adjustment for age, sex, and body surface area, RVFWT (average 1.81 mm, 95% confidence interval [CI] 0.35–3.26 mm) and RVEDD (average 6.82 mm, 95% CI 2.40–11.24 mm) were significantly higher in subjects infected with HIV. More patients with right ventricular hypertrophy were on antiretroviral treatment, and RVFWT was on average 1.3 mm higher (95% CI 0.24–2.37 mm) in patients on antiretroviral treatment after adjustment for confounders.
Conclusions
These findings suggest that alterations in RSHCs were present in patients with HIV without PH. 相似文献
Background: Although primary bone tumors are relatively uncommon, they constitute the most important tumors in patients less than 20 years. We aimed to determine the frequencies of primary bone tumors and tumor-like lesions of bone and the anatomical sites of their occurrence. Methods: A retrospective review of histopathology reports of all bone specimens received in a private pathology laboratory in Istanbul between 2009 and 2015. Results: A total of 57 patients (aged 5 to 18 years) with a mean of 13.12 years were studied. Thirty five patients (61.4%) were males and 22 (38.6%) were females. Fifty five (94.4%) of the tumors were benign. Osteochondroma was the commonest tumor accounting for 31 cases (54.3%) followed by osteoid osteoma, 9 cases (15.7%). Chondrosarcoma observed in two patients and Ewing sarcoma in one patient as malignant tumors. Of the 57 bone tumors 13 (22.8%) occurred in the upper extremities, while 44 (77.2%) were in the lower extremities. Proximal humerus was the most commonly involved site in upper extremity tumors, with osteochondromas representing the most frequent type of tumor (4 patients; 7%). In the lower extremities again osteochondromas were the most common type of tumor (8 cases, 14%), with the femur being the most common site of involvement (18 patients, 31.5%). Of the patients with tumor-like lesions; four patients had fibrous dysplasia, 4 patients had non-ossified fibromas, 4 patients had simple bone cysts and 3 had aneurismal bone cyst. Conclusion: This study showed that primary bone tumors were mainly benign, settled predominantly in the lower extremities mostly in the femur with a male preponderance. Osteochondroma was the most common benign bone tumor. We didn’t observed osteosarcoma, which is the most frequent malignant bone tumor. 相似文献
International Ophthalmology - To evaluate the relationship of novel inflammatory markers neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) with retinopathy of prematurity... 相似文献
Perigenual anterior cingulate cortex (pACC) is a neural convergence site for social stress-related risk factors for mental health, including ethnic minority status. Current social status, a strong predictor of mental and somatic health, has been related to gray matter volume in this region, but the effects of social mobility over the lifespan are unknown and may differ in minorities. Recent studies suggest a diminished health return of upward social mobility for ethnic minority individuals, potentially due to sustained stress-associated experiences and subsequent activation of the neural stress response system.
Methods
To address this issue, we studied an ethnic minority sample with strong upward social mobility. In a cross-sectional design, we examined 64 young adult native German and 76 ethnic minority individuals with comparable sociodemographic attributes using whole-brain structural magnetic resonance imaging.
Results
Results showed a significant group-dependent interaction between perceived upward social mobility and pACC gray matter volume, with a significant negative association in the ethnic minority individuals. Post-hoc analysis showed a significant mediation of the relationship between perceived upward social mobility and pACC volume by perceived chronic stress, a variable that was significantly correlated with perceived discrimination in our ethnic minority group.
Conclusion
Our findings extend prior work by pointing to a biological signature of the “allostatic costs” of socioeconomic attainment in socially disadvantaged upwardly mobile individuals in a key neural node implicated in the regulation of stress and negative affect.