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retaining participants. We hope that these guidelines will prepare and embolden other research teams to work with profoundly autistic children, ending their historical exclusion from research. These guidelines also could be useful for conducting research with children with intellectual disabilities.Vitamin D (VD) cannot be considered as a true vitamin, but rather as a hormone, which exerts its action via a vitamin D receptor (VDR). Many genes have been shown to be involved in the evolution of diabetes in various populations, such as the vitamin D receptor gene. The aim of our study was to investigate if BsmI, TaqI, ApaI, FokI, and Tru9I, polymorphisms of VDR gene have an impact on MODY diabetes and its clinical aspects in a Tunisian population. A total of 95 patients and 153 controls were genotyped using PCR-RFLP. The comparison of the allelic and genotypic frequencies of the five polymorphisms between MODY subjects and control groups revealed the association of MODY diabetes with TaqI, Tru9I and BsmI polymorphisms and no significant differences were observed in the distributions for the ApaI and FokI polymorphisms. After stratification with biochemical and clinical parameters and TaqI, Tru9I and BsmI polymorphisms, we found an association between the three SNPs and different parameters such as age of diagnosis, therapy, hsCRP and HDL-C levels. Our results revealed that TaqI, Tru9I and BsmI polymorphisms may be more related to the progression of MODY diabetes. The possible role of vitamin D in the pathogenesis of MODY is far from being completely understood. Further knowledge on this issue may identify new candidate targets in the treatment and prevention of the disease. Our findings suggest that the TaqI, Tru9I and BsmI polymorphisms may be more related to the progression of MODY diabetes.

The treatment of floaters has consisted primarily of monitoring. The therapeutic approach is based on surgical removal or NdYAG laser treatment. The objective of this study was the assessment of the quality of life in patients treated with NdYAG laser for floaters.

Single-center pretest-posttest design in a cohort of subjects treated with Nd-YAG laser with Ultra Q-Reflex technology. Health-related quality of life of the patients was measured before and after the intervention with the Visual Function Questionnaires VFQ-25 and VFQ-39. Anxiety level was measured with the State-Trait Anxiety Inventory. Visual acuity, contrast sensitivity, and safety parameters were also considered.

Thirty-four patients were included in the study. For the VFQ-25 baseline, the median was 73.05, interquartile range (19.25) versus a final median value of 93.76 (8.73) with

 < 0.01. The baseline median for the extended version VFQ-39 was 74.60 (19.01) versus the final median of 95.01 (6.50) with

 < 0.001. Regarding the anxiety, according to the STAI questionnaire, there were statistically significant differences between the baseline and the final conditions, with a baseline median of 38 (11) versus a final median of 18 (19);

 < 0.001. When the analyses differentiated between patients with and without myopia, there were statistically significant differences for VFQ-25 and VFQ-39.

This study shows an improvement in the health-related quality of life and a significant decrease in anxiety for patients that have undergone Nd YAG Ultra-Q Reflex laser vitreolysis for floaters vaporization. The effect found is higher in myopic patients.

This study shows an improvement in the health-related quality of life and a significant decrease in anxiety for patients that have undergone Nd YAG Ultra-Q Reflex laser vitreolysis for floaters vaporization. The effect found is higher in myopic patients.

The objective of this systematic review was to evaluate the evidence regarding skeletal maturation in patients with cleft lip and/or palate (CL/P) and to investigate whether the skeletal maturation is delayed in these patients.

Systematic review.

Electronic and manual searches of scientific literature were conducted in 4 databases (MEDLINE, Embase, Cochrane Library, and Web of Science). Cohort studies that compared the skeletal maturation of patients with CL/P with that of children without CL/P were eligible for inclusion. The quality of included cohort studies was assessed using the Newcastle-Ottawa Scale.

Patients of any sex and ethnicity with CL/P and children without CL/P were included in this systematic review.

Difference in skeletal maturation between patients with CL/P and patients without CL/P.

Thirteen retrospective cohort studies were included in this systematic review. Ten studies were considered of high quality and 3 were considered of general quality. The results of the included studies comparing skeletal maturation of patients with CL/P and children without CL/P were heterogeneous.

Heterogeneity of skeletal maturation assessment methods, chronological age, sex, cleft type, and race may influence the final results of clinical studies on skeletal maturation in patients with CL/P. Overall, there is limited evidence to determine whether the skeletal maturation level of patients with CL/P is delayed compared to that of normal children. Further studies are needed to determine the skeletal maturation patterns in patients with CL/P.

Heterogeneity of skeletal maturation assessment methods, chronological age, sex, cleft type, and race may influence the final results of clinical studies on skeletal maturation in patients with CL/P. Overall, there is limited evidence to determine whether the skeletal maturation level of patients with CL/P is delayed compared to that of normal children. Further studies are needed to determine the skeletal maturation patterns in patients with CL/P.Difficulties associated with Autism Spectrum Disorders can cause considerable impact on personal, familial, social, educational and occupational functioning. Living with a child who has an Autism Spectrum Disorder can therefore pose a challenge to family members, including typically developing siblings. However, it is only in recent years that the experience of typically developing siblings has become a focal point. A systematic review using keywords across six databases was undertaken to summarise qualitative studies that focused on the experience of being a sibling of a child with an Autism Spectrum Disorder. Fifteen studies met inclusion criteria and a thematic synthesis was completed. The synthesis found that having a sibling who has an Autism Spectrum Disorder can impact typically developing sibling's self-identity and personal development in a number of ways. Similarly, interactions with the sibling who has Autism Spectrum Disorders and with other individuals can evoke a myriad of experiences that can both benefit and challenge typically developing siblings. The ability of typically developing siblings to cope with adverse experiences needs to remain a focus. This synthesis concludes that further research is needed to identify which methods are the most effective in supporting typically developing siblings of children with Autism Spectrum Disorders.

To evaluate the effect of a 12-week breathing-based leg exercises program on quality of life under stabilizing heart rate variability and reducing fatigue in regular hemodialysis patients.

Randomized controlled trial.

A 94-bed hemodialysis department at a medical center in northern Taiwan.

Eighty-six patients with end-stage renal disease undergoing hemodialysis were recruited and randomly assigned to the ExBr or control groups.

The breathing-based leg exercises program comprised abdominal breathing and low-intensity leg exercise, including leg lifts, quadriceps femoris contraction and knee flexion, and lasted for 15 minutes at one time, three times a week for 12 weeks.

Data was collected by using the World Health Organization quality of life assessment-brief, physiological signal recorder for heart rate variability and hemodialysis-related fatigue scale at baseline and on Week 4, Week 8, and Week 12.

Average (standard deviation) age was 53.70 (10.04) years in the ExBr group and 61.19 (10.19) years in the control group. https://www.selleckchem.com/products/lb-100.html The linear mixed model with adjusted age, creatinine, heart rate variability and fatigue revealed that the ExBr group had significantly higher quality of life than did the control group (

 = 0.01), especially on Week 12 (

 = 0.04). Fatigue was significantly correlated with quality of life (

 0.001).

This study supported the benefits of the continued breathing-based leg exercises during hemodialysis for at least 12 weeks, which improved the quality of life of patients with end-stage renal disease and did not affect the stability of their vital signs.

This study supported the benefits of the continued breathing-based leg exercises during hemodialysis for at least 12 weeks, which improved the quality of life of patients with end-stage renal disease and did not affect the stability of their vital signs.

To determine whether there is a significant correlation between the retinal sensitivity and the integrity of the ellipsoid zone (EZ) of the photoreceptors in eyes with myopic chorioretinal atrophy (CRA). We also determined the significance of the correlation between the retinal sensitivity and the retinal and choroidal thicknesses.

The medical records of 10 eyes of six subjects with myopic CRA were reviewed. The integrity of the EZ was determined in the spectral-domain optical coherence tomographic (OCT) images at 37 points of six scans corresponding to the locations where the retinal sensitivities were measured by MP-3 microperimetry. The mesopic retinal sensitivities were determined within the central 16°. The significance of the correlations between the integrity of the EZ and the mesopic retinal sensitivities was determined. The relationships between the retinal and choroidal thickness and the retinal sensitivity were also determined.

The average age of the patients was 70.0 ± 6.7 years, and the average axial length of the eye was 29.2 mm. The mesopic sensitivities at the points where the EZ was present were significantly higher than those where the EZ was absent (

 < 0.01). The mesopic sensitivity was significantly correlated with the retinal thickness (

 < 0.01,

 = 0.30) and the choroidal thickness (

 < 0.01,

 = 0.23).

The significant correlation between the mesopic retinal sensitivity and the integrity of the EZ indicates that the mesopic sensitivities can be used to assess the integrity of the photoreceptors in eyes with myopic CRA.

The significant correlation between the mesopic retinal sensitivity and the integrity of the EZ indicates that the mesopic sensitivities can be used to assess the integrity of the photoreceptors in eyes with myopic CRA.

Metaplastic breast cancer (MetBC) represents a therapeutic challenge. We evaluated the impact of clinicopathological characteristics and treatment modalities on outcomes among MetBC patients treated at our center.

Women with stage I-III MetBC were reviewed from our database from 2005-2018. Kaplan-Meier method was used to calculate locoregional-failure-free survival (LRFFS), overall-survival (OS) and distant-metastases-free survival (DMFS). We assessed associations with survival outcomes by log-rank tests. Multivariate Cox proportional-hazards models were used to identify independent predictors of LRFFS, OS and DMFS.

81 patients were eligible for the study. Median age at diagnosis was 48 years. 90.1% had G-III tumors, 64.2% were pathologically node negative and lympho-vascular invasion (LVI) was absent in 72.8%. 67.8% were triple negative, and 7.4% were HER2-neu positive. Most (66.7%) patients underwent mastectomy. Free margins were achieved in the entire cohort, however, 17.3% had close margin (<2 mm).