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Background: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. Since the identification of the responsible gene ("FMR1") and its protein (FMRP), there has been enormous progress in both clinical and pathogenetic research on the neurobehavioural aspects of the condition. However, studies regarding other medical problems anticipated in individuals with FXS are limited. A multidisciplinary study evaluating various causes of morbidity in the same group has not been published yet. Methods: Twenty-four boys with FXS full mutation were recruited out of a larger group of 103 diagnosed in one centre over the past 10 years. Ear nose and throat, eye and cardiac examinations were performed in addition to routine cognitive, behavioural, neurological and speech and language assessments. Results: The average IQ score was 49.8 plus or minus 20 (range 25-90). There were four patients (18%) with IQ above 70. Using DSM-IV, attention deficit hyperactivity disorder was diagnosed in five boys out of 22 examined (23%), while 32% were diagnosed with pervasive developmental disorder. The seizure frequency was 17%. A psychiatric disorder was diagnosed in six out of eight boys with electroencephalogram abnormalities (75%). Minimal conductive hearing loss was found in five (522) patients. There was significant delay in both expressive and receptive language skills. Ocular findings were refractive errors (13%) and strabismus (4.4%). Mitral valve prolapsus (MVP) was observed in 322 (13.7%) patients and aortic annulus dilatation was present in 222 (9%) patients. Conclusions: Frequency of psychiatric diagnoses made with DSM-IV were in parallel to those reported in the literature. Comorbidity of seizures and psychiatric disorders was noteworthy. The percentage of high-functioning full mutation males supports the previous observations. Ear nose and throat and eye examination revealed remarkably lower prevalence of abnormal findings than reported. MVP was slightly less frequent compared with the single study in the literature. Age at the time of examination had an effect on the outcome of cardiac evaluation. These findings will guide us in future management of the group of patients followed in our institution. The protocol applied provides an applicable outline for multidisciplinary institutional settings dealing with individuals with FXS.

Background: Celiac disease (CD) is an autoimmune disorder of the small intestine related to gluten. CD is diagnosed by the evaluation of histologic findings according to the Marsh classification. Objectives: To evaluate the clinical and laboratory differences of CD according to Marsh classification. Patients and method: The records of ≥Marsh 2 histologically diagnosed 132 cases were evaluated. Results: It was determined that 7(5.3%) cases were Marsh 2, 32(24.2%) were Marsh 3a, 73(55.3%) were Marsh 3b, and 20(15.1%) were Marsh 3c. Vomiting in Marsh 2 was significantly lower than Marsh 3b and Marsh 3c (respectively, 14.3% vs. 56.9%, p=0.029; and 14.3% vs. 75%, p=0.005). Hemoglobin was significantly higher in Marsh 2 than Marsh 3b and Marsh 3c (respectively, 11.9±1.7 vs. 10.5±1.6 g/dl, p=0.038 and; 11.9±1.7 vs. 9.8±1.6 g/dl, p=0.005). Positive detection ratio for tTG IgA was significantly lower in Marsh 2 than Marsh 3a, Marsh 3b and Marsh 3c (respectively, 66.7% vs. 100%, p<0.001; 66.7% vs. 100%, p<0.001; and 66.7% vs. 94.1%, p=0.003). After the onset of gluten free diet, the time passed for the disappearance of tTG IgA seropositivity is significantly shorter in Marsh 2 than Marsh 3c (6±3.6 vs. 9.7±2.5 months, p=0.017). Conclusions: Gastrointestinal symptoms are more frequent in patients with severe small intestinal mucosal injury. tTG IgA seropositivity is associated with more severe disease. Clinical and laboratory findings of the patients are exacerbated when histopathological findings improve in CD. [ABSTRACT FROM AUTHOR]

This study assessed whether NAC could prevent cyclophosphamide (CY)-induced damage, by measuring the anti-Müllerian hormone (AMH) levels. Forty-eight Sprague-Dawley female rats were divided into four groups: CY + NAC, CY, NAC and control, each including 12 rats. There was no significant difference among the 24-h AMH values of the groups (p = 0.452), whereas a significant difference was found in terms of 72-h values (p = 0.003). Paired comparisons revealed no significant difference between CY and CY + NAC (p>0.699) and NAC (p = 0.065) groups regarding 72-h AMH values. However, AMH concentrations of the CY group at 72 hours were significantly lower than those of the control group (p = 0.015). AMH concentrations of the CY + NAC group at 72 hours were also significantly lower than those of the NAC group (p = 0.002) and the control group (p = 0.002). The AMH levels of CY and CY + NAC groups at 72 hours were significantly lower than those at 24 hours. The 24-h and 72-h AMH levels in the NAC and control groups were similar. In the present study, a single dose of NAC failed to prevent the cytotoxic effects of CY. [ABSTRACT FROM AUTHOR]

Allium cepa bulbs were germinated in pots for three days on treatment area on which 380 kV high voltage power lines are passing. Ten bulbs were set up for each treatment area (0 m (meter), 10 m, 25 m, 50 m and 100+ m for control from power lines). Triticum baeoticum Boiss. subsp. baeoticum seeds were collected at same distance from power lines on planted field. Ten seeds from each area were germinated in Petri dishes for three days in laboratory. The treatment groups were compared with the control group for mitotic index and chromosome aberrations. Data obtained showed that electromagnetic fields from high voltage power lines increased the mitotic index and chromosome aberrations. [ABSTRACT FROM AUTHOR]

Objective: Based on interleukin (IL)-1beta and tumor necrosis factor (TNF)-alpha levels in effusions, our goals were to specify either recurrent or persistent otitis media with effusion (OME) is a mid stage in the development of chronic disease and to identify the factors that have an influence on cytokine levels.Study Design: Samples from groups with recurrent (n = 15) and persistent (n = 39) OME were assayed for IL-1beta and TNF-alpha. Children were also grouped with respect to age, sex, quality of effusion, and the presence of pharyngeal adenoid tissue.Setting: Tertiary referral center.Results: In recurrent and persistent OME groups, IL-1beta was higher than TNF-alpha (P < 0.01). IL-beta was higher in recurrent OME than in persistent OME (P < 0.05).Conclusion: Recurrent OME seems to be closer to the chronic stage of the disease relative to persistent OME in terms of higher IL-1beta levels. Each exacerbation of acute disease in recurrent otitis media is likely to be mediated by IL-1beta.Significance: We were able to clarify that recurrent OME is a stage that occurs before chronic OME. Therefore, the prevention of acute attacks in recurrent disease would also impede long-term damage to the middle ear. [ABSTRACT FROM AUTHOR]

Unlabelled: The aim of this prospective, referral-based study was to assess demographical and developmental features associated with childhood masturbation in Turkey. A total of 61 children with childhood masturbation who were referred for the first time to the Department of Child Psychiatry were examined from demographical, psychosocial and medical aspects and compared with two control groups consisting of 61 age and gender matched children who were brought to the paediatric outpatient clinics and 43 children and adolescents who were the biological siblings of the study group. In children with masturbation, sleep difficulties were more frequent (P < 0.001) and breast-feeding was shorter than in controls (P < 0.05). The onset of masturbation was often associated with a genito-urinary disorder or a stressful life event like weaning, the birth of a sibling, or separation from the parents.Conclusion: This is the first controlled study investigating the clinical and the developmental features of childhood masturbation. These findings may help identify children who could be at risk for this condition. [ABSTRACT FROM AUTHOR]

Study Objectives: This study aimed to evaluate and compare the effects of high and low-intensity expiratory muscle strength training (EMST) on disease severity, systemic inflammation, oxidative stress, respiratory muscle strength, exercise capacity, symptoms, daytime sleepiness, fatigue severity, and sleep quality in male patients with obstructive sleep apnea syndrome (OSAS)., Methods: Thirty-one male patients diagnosed with moderate OSAS were included in this double-blind, randomized, parallel study. Patients were randomized into two groups: High-EMST and Low-EMST groups. EMST was used at home 7 days/week, once a day, for 25 breaths, 12 weeks. Respiratory muscle strength was measured using a mouth pressure device. Disease severity (Apne Hipopne Index-AHI) and, respiratory sleep events by polysomnography, total oxidant level(TOS), total antioxidant level(TAS), oxidative stress index (OSI), C-reactive protein (CRP), tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and interleukin-10 (IL-10) levels by blood serum were evaluated., Results: The percentage of AHI change in the High-EMST group(50.8%) was significantly higher than in the Low-EMST group(6.3%) (p=0.002, d=1.31). In general, as MEP increased by one unit, AHI decreased by 0.149 points (b=-0.149; CR=-3.065; p=0.002), and as AHI increased by one unit, ODI increased by 0.746 points (b=0.746; CR=10.604; p<0.001). TOS, OSI, TNF-α and IL-6 levels decreased at similar rates in both groups., Conclusion: EMST significantly reduces systemic inflammation and oxidative stress while improving expiratory muscle strength in male patients with moderate OSAS. High-EMST is more effective in enhancing the severity of disease than Low-EMST. EMST is a practical, effective, and promising treatment for pulmonary rehabilitation in patients with moderate OSAS., (© The Author(s) 2024. Published by Oxford University Press on behalf of Sleep Research Society. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

High Fructose Corn Syrup (HFCS) and Fructose (FR) are widely used sweeteners in many foods and beverages. This study aimed at investigating the cytotoxic effects of HFCS (5%-30%) and FR (62.5-2000 μg/mL) using MTT assay in Human Hepatocellular Carcinoma (HepG 2 ) cells, and genotoxic effects of using Chromosome Aberrations (CAs), Sister Chromatid Exchanges (SCEs), Micronuclei (MN) and comet assays in human lymphocytes. HFCS significantly reduced the cell viability in HepG 2 cells at between 7.5% and 30% for 24 and 48 h. 30% HFCS caused a very significant toxic effect. FR had a cytotoxic effect in HepG 2 cells at all treatments. However, as fructose concentration decreased, the cell viability decreased. HFCS (10%-20%) and FR (250-2000 μg/mL) decreased the mitotic index at higher concentrations. IC 50 value was found to be a 15% for 48 h. IC 50 value of FR was detected as 62.5 μg/mL for 24 h and 48 h. HFCS significantly increased CAs frequency at 15% and 20%. FR significantly increased the frequency of CAs at 250, 1000, and 2000 μg/mL for 48 h. Both sweeteners increased the frequency of SCEs at all concentrations. HFCS (15% and 20%) and FR (250, 1000, and 2000 μg/mL) induced MN frequency at higher concentrations. HFCS caused DNA damage in comet assay at 10% -30%. FR increased tail intensity and moment at 125-2000 μg/mL and tail length at 62.5, 250 and 500 μg/mL. Therefore, HFCS and FR are clearly seen to be cytotoxic and genotoxic, especially at higher concentrations.

Background: Chronic pain, sensory disturbances, and lymphedema are frequent after breast cancer, leading to arm dysfunction. There is a need for objective performance-based clinical exercise tests for the upper extremity in patients with breast cancer., Objective: The aim of this study was to evaluate the validity and reliability of the 6-minute pegboard and ring test (6PBRT) in breast cancer survivors., Methods: Forty-eight women with breast cancer (mean age = 55.40 ± 10.40 years) were included. All patients performed 6PBRT on the first day and one week later to investigate the test-retest reliability of the 6PBRT, and intraclass correlation coefficients (ICC) were calculated. The peak workload (W peak ) and oxygen consumption level (VO 2peak ) during the arm ergometer test were used as outcomes for the criterion validity of the 6PBRT., Results: The 6PBRT showed good test - retest reliability with an ICC 1,2 value of 0.871 [95% confidence interval (CI) 0.769-0.928]. The first 6PBRT score was very strongly correlated with the second test score ( r  = 0.866, p  < .001). The 6PBRT score was significantly correlated with VO 2peak ( r  = 0.634, p  < .001), and W peak ( r  = 0.546, p  < .001). While the 6PBRT score had less effect on VO 2peak , the determination of VO 2peak in the model was very good (R 2  = 0.832)., Conclusion: The 6PBRT has good test-retest reliability and is a valid test in individuals with breast cancer. These findings suggest that 6PBRT is a practical, useful, valid and reliable assessment tool for determining functional arm exercise capacity in patients with breast cancer.

Food additives (FAs) (flavor enhancers, sweeteners, etc.) protect foods during storage and transportation, making them attractive to consumers. Today, while the desire to access natural foods is increasing, the chemicals added to foods have started to be questioned. In this respect, genotoxicity tests have gained importance. Studies show that some food additives may have genotoxic risks. Previous studies carried out in our laboratory also revealed genotoxic effects of Monopotassium glutamate (MPG), Monosodium glutamate (MSG), Magnesium diglutamate (MDG) as flavor enhancers; Potassium benzoate (PB), Potassium sorbate (PS), Sodium benzoate (SB), Sodium sorbate (SS) as preservatives; Acesulfame potassium (ACE-K), Xylitol (XYL) as sweeteners. In this study, we determined the interactions of these food additives with ATM and p53 proteins, which are activated in the cell due to genotoxic effects, and with DNA by employing the molecular docking method for the first time. Among the food additives, SB (-4.307) for ATM, XYL (-4.629) for p53, and XYL (-4.927) for DNA showed the highest affinity. Therefore, flexible docking (IFD) scores were determined for SB, XYL, and MDG from flavor enhancers. The potential binding modes of the food additives to target molecules' possible inhibition mechanisms were determined by molecular docking. Thus, new information was obtained to show how these additives cause chromosomal abnormalities., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)