Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect

Background: Limb-girdle muscular dystrophies are a group of genetically heterogeneous diseases that are inherited in both autosomal dominant (LGMDD) and autosomal recessive forms (LGMDR), the latter is more common especially in populations with high consanguineous marriages like Iran. In the present study, we aimed to investigate the genetic basis of patients who are suspicious of being affected by LGMDR. DNA samples of 60 families suspected of LGMD were extracted from their whole blood. Four short tandem repeat (STR) markers for each candidate genes related to LGMD R1 (calpain3 related)- R6 (δ-sarcoglycan-related) were selected, and all these 24 STRs were applied in two sets of multiplex PCR. After autozygosity mapping, Sanger sequencing and variant analysis were done. Predicting identified variants' effect was performed using in-silico tools, and they were interpreted according to the American College of Medical Genomics and Genetics (ACMG) guideline. MLPA was used for those patients who had large deletions. Fresh muscle specimens were taken from subjects and were evaluated using the conventional panel of histochemical stains. Results: forty out of sixty families showed homozygote haplotypes in CAPN3, DYSF, SGCA, and SGCB genes. The exons and intron-exon boundaries of the relevant genes were sequenced and totally 38 mutations including CAPN3 (n = 15), DYSF (n = 9), SGCB (n = 11), and SGCA (n = 3) were identified. Five out of them were novel. The most prevalent form of LGMDs in our study was calpainopathy followed by sarcoglycanopathy in which beta-sarcoglycanopathy was the most common form amongst them. Exon 2 deletion in the SGCB gene was the most frequent mutation in this study. We also reported evidence of a possible founder effect in families with mutations in DYSF and SGCB genes. We also detected a large consanguineous family suffered from calpainopathy who showed allelic heterogeneity. Conclusions: This study can expand our knowledge about the genetic spectrum of LGMD in Iran, and also suggest the probable founder effects in some Iranian subpopulations which confirming it with more sample size can facilitate our genetic diagnosis and genetic counseling. © 2020 The Author(s)

Relationship Between Quality of Life and Depression in Pregnant Women

Background: Quality of life differs for different people in different situations and is related to one's self-satisfaction with life. Quality of life is affected by health status. Objectives: The current study examined the relationship between quality of life and depression in pregnant women in Kashan city. Patients and Methods: A Case - control study was performed on 112 depressed pregnant women (Case Group) and 353 Non-depressed pregnant women (Control Group) who referred to the prenatal health care centers of Kashan University of Medical Sciences .They completed Short Form 36 Health Survey (SF-36) to assess the quality of life and the Beck Depression Inventory to assess the level of depressive symptoms. T-test, chi-square and Pearson correlation coefficient statistical tests were used for data analysis. Results: The findings showed that there was an inverse relationship between quality of life and depression in pregnancy (P = 0.0001). Average scores in all eight domains of quality of life were significantly lower in depressed pregnant women compared to non- depressed women. The strongest relationship was observed between depression and vitality (r =-0.52, P = 0.0001), mental health (r = -0.50, P = 0.001) and social functioning (r =-0.38, P = 0.001). Conclusion: Depressed pregnant women had a lower quality of life. The proper management of depression during pregnancy can improve the quality of life in women. It is recommended that antenatal services integrate screening for depression into routine antenatal care

Comparison of knowledge, attitude and practice of Urban and rural households toward iron deficiency anemia in three provinces of Iran

Background: Lack of nutritional knowledge is one of the most important reasons of nutritional problems and consequently improper practice, which can lead to several complications. This study has been designed in order to compare knowledge, attitude and practices of the urban and rural households regarding iron deficiency anemia (IDA) in Boushehr, Golestan and Sistan & Balouchestan provinces in 2004. Methods: The sampling method at household's level in each province was the single-stage cluster sampling with equal size clusters. The necessary data were gathered with a structured questionnaire and via the interviews between the questioners and the eligible people in each household. Comparison of frequency of variables between urban and rural areas were tested by chi square test. Results: A total of 2306 households were selected as overall sample size. In urban areas, people recognized iron food sources better than rural areas. Knowledge level of respondents about vulnerable group for IDA and the favorite attitude of households toward IDA were better in urban areas of Sistan & Blouchestan and Golestan provinces. In Sistan & Balouchestan and Golestan, rural households who drank tea immediately before or after meal was more than urban ones. The majority of pregnant and lactating mothers (except for rural areas of Bushehr) did not take iron supplement regularly. Less than 60 percent of children used iron drop regularly. Conclusion: Knowledge, attitude, and practice levels of households toward IDA were not acceptable. One of the best ways of improving nutritional practice is nutritional education with focus on applying available food resources

Neutron spectroscopic study of crystal field excitations in Tb2Ti2O7 and Tb2Sn2O7

We present time-of-flight inelastic neutron scattering measurements at low temperature on powder samples of the magnetic pyrochlore oxides Tb2Ti2O7 and Tb2Sn2O7. These two materials possess related, but different ground states, with Tb2Sn2O7 displaying "soft" spin ice order below Tn~0.87 K, while Tb2Ti2O7 enters a hybrid, glassy spin ice state below Tg~0.2 K. Our neutron measurements, performed at T=1.5 K and 30 K, probe the crystal field states associated with the J=6 states of Tb3+ within the appropriate Fd\bar{3}m pyrochlore environment. These crystal field states determine the size and anisotropy of the Tb3+ magnetic moment in each material's ground state, information that is an essential starting point for any description of the low-temperature phase behavior and spin dynamics in Tb2Ti2O7 and Tb2Sn2O7. While these two materials have much in common, the cubic stanate lattice is expanded compared to the cubic titanate lattice. As our measurements show, this translates into a factor of ~2 increase in the crystal field bandwidth of the 2J+1=13 states in Tb2Ti2O7 compared with Tb2Sn2O7. Our results are consistent with previous measurements on crystal field states in Tb2Sn2O7, wherein the ground state doublet corresponds primarily to m_J=|\pm 5> and the first excited state doublet to mJ=|\pm 4>. In contrast, our results on Tb2Ti2O7 differ markedly from earlier studies, showing that the ground state doublet corresponds to a significant mixture of mJ=|\pm 5>, |\mp 4>, and |\pm 2>, while the first excited state doublet corresponds to a mixture of mJ=|\pm 4>, |\mp 5>, and |\pm 1>. We discuss these results in the context of proposed mechanisms for the failure of Tb2Ti2O7 to develop conventional long-range order down to 50 mK.Comment: 12 pages, 6 figures. Version is the same as the published one, except for figure placement on page

Visual Counting of Traffic Flow from a Car via Vehicle Detection and Motion Analysis

Visual traffic counting so far has been carried out by static cameras at streets or aerial pictures from sky. This work initiates a new approach to count traffic flow by using populated vehicle driving recorders. Mainly vehicles are counted by a camera moves along a route on opposite lane. Vehicle detection is first implemented in video frames by using deep learning YOLO3, and then vehicle trajectories are counted in the spatial-temporal space called motion profile. Motion continuity, direction, and detection missing are considered to avoid multiple counting of oncoming vehicles. This method has been tested on naturalistic driving videos lasting for hours. The counted vehicle numbers can be interpolated as a flow of opposite lanes from a patrol vehicle for traffic control. The mobile counting of traffic is more flexible than the traffic monitoring by cameras at street corners

The effects of aerobic, resistance, and combined exercises on the plasma irisin levels, HOMA-IR, and lipid profiles in women with metabolic syndrome: A randomized controlled trial

Background/objective: Irisin is suggested to be an exercise beneficial effects mediator. This study aimed to examine the effects of the aerobic exercise (AE), resistance exercise (RE), and combined exercise (CE) on the plasma levels of irisin and some metabolic and anthropometric indices. Methods: Sixty overweight women with metabolic syndrome were assigned equally into four groups: AE, RE, CE, and control. The study variables were measured before and 24 h after the intervention period. Results: None of the study groups showed statistically significant changes in the serum irisin. However, muscle mass significantly increased in the RE and CE groups. Also, a significant decrease was observed in the body fat percentage in all groups. In addition, compared with the control group, the homeostatic model assessment of insulin resistance in the AE (p = 0.021), RE (p = 0.039), and in the CE (p = 0.003) groups reduced significantly. According to the analysis of indices� changes, serum irisin was significantly correlated with the body fat percentage (r = 0.532) and HOMA-IR (r = 0.424). Conclusions: The systematic exercise program for 8-weeks did not change circulating irisin and no statistically significant difference was observed between the exercise methods. Also, serum irisin seemed to be associated with the glycemic status, body fat and weight independent of exercise activity. RCT registration code: IRCT20180806040721N2. Registry name: Iranian Registry of Clinical Trials. © 2020 The Society of Chinese Scholars on Exercise Physiology and Fitnes

Functionalized metallic 2D transition metal dichalcogenide-based solid-state electrolyte for flexible all-solid-state supercapacitors

Highly efficient and durable flexible solid-state supercapacitors (FSSSCs) are emerging as low-cost devices for portable and wearable electronics due to the elimination of leakage of toxic/corrosive liquid electrolytes and their capability to withstand elevated mechanical stresses. Nevertheless, the spread of FSSSCs requires the development of durable and highly conductive solid-state electrolytes, whose electrochemical characteristics must be competitive with those of traditional liquid electrolytes. Here, we propose an innovative composite solid-state electrolyte prepared by incorporating metallic two-dimensional group-5 transition metal dichalcogenides, namely, liquid-phase exfoliated functionalized niobium disulfide (f-NbS2) nanoflakes, into a sulfonated poly(ether ether ketone) (SPEEK) polymeric matrix. The terminal sulfonate groups in f-NbS2 nanoflakes interact with the sulfonic acid groups of SPEEK by forming a robust hydrogen bonding network. Consequently, the composite solid-state electrolyte is mechanically/dimensionally stable even at a degree of sulfonation of SPEEK as high as 70.2%. At this degree of sulfonation, the mechanical strength is 38.3 MPa, and thanks to an efficient proton transport through the Grotthuss mechanism, the proton conductivity is as high as 94.4 mS cm–1 at room temperature. To elucidate the importance of the interaction between the electrode materials (including active materials and binders) and the solid-state electrolyte, solid-state supercapacitors were produced using SPEEK and poly(vinylidene fluoride) as proton conducting and nonconducting binders, respectively. The use of our solid-state electrolyte in combination with proton-conducting SPEEK binder and carbonaceous electrode materials (mixture of activated carbon, single/few-layer graphene, and carbon black) results in a solid-state supercapacitor with a specific capacitance of 116 F g–1 at 0.02 A g–1, optimal rate capability (76 F g–1 at 10 A g–1), and electrochemical stability during galvanostatic charge/discharge cycling and folding/bending stresses

Frequency of helicobacter pylori hopQI, hopQII and sabA genes among Iranian patients with gastroduodenal diseases

Background: Helicobacter pylori has been recognized as the most common pathogen of human gastroduodenal tract and it has been suggested that adhesins, including HopQ and SabA, are associated with the organism’s virulence. Objectives: The current study aimed at determining the frequency of hopQI, hopQII, and sabA genes among H. pylori isolates from patients with gastroduodenal disorders in Shahrekord, Iran. Methods: Gastric corpus samples were obtained from 150 symptomatic patients admitted to the endoscopy unit at gastroenterology clinic. After DNA extraction from all corpus samples, H. pylori molecular confirmation and genotyping was performed by the polymerase chain reaction (PCR), using specific primers for glmM, 16SrRNA and hopQ, sabA genes, respectively. Results: The hopQI, hopQII, and sabA genes were found in 74 (49.3%), 59 (39.3%), and 43 (28.7%) cases, respectively. The hopQI gene was detected in 75% of patients with gastric cancer (GC), 42.4% with chronic gastritis (CG), and 57.4% with peptic ulcer disease (PUD). The hopQII among patients with GC, CG, and PUD was also detected in 50%, 38.8%, and 39.3%, respectively. Moreover, sabA was diagnosed in 50% of patients with GC, 29.4% with CG, and 26.2% with PUD. Conclusions: No significant association was observed between hopQI, hopQII, and sabA genes with clinical outcomes

Echocardiographic findings and joint hypermobility: Patients with mitral valve prolapse vs. healthy controls

Background: Mitral valve prolapse is a relatively common valvular abnormality in most communities and joint hypermobility (JHM) is also seen in many healthy people as well as in certain clinical disorders, such as Marfan syndrome. The present study was designed to investigate the association between joint hypermobility and mitral valve prolapse (MVP) in an Iranian population sample. Methods: Fifty-seven patients with nonrheumatic and isolated mitral anterior leaflet prolapse (24 men and 33 women, mean age 23.5 +/-2.3) and 51 healthy subjects (20 men and 31 women, mean age 22.9+/-2.3) were studied. The presence of JHM was evaluated according to the Carter-Wilkinson & Beighton criteria. Echocardiographic examination was performed in all subjects and the correlation between the echocardiographic features of the mitral valve and the hypermobility score were investigated. Results: The frequency of JHM in patients with MVP was found to be significantly higher than that of controls (26.3 vs. 7.8), with mean JHM scores of 3.1+/-2.2 and 1.9+/-1.7, respectively. The patients in the MVP group had significantly increased the anterior mitral leaflet thickness (AMLT, 3.4+/-0.4 mm vs. 3.0+/-0.3 mm; p<0.0005) and maximal leaflet displacement (MLD, 2.4+/-0.3 mm vs. 1.5+/-0.2 mm; p<0.0005) compared to the controls. Conclusions: We detect a statistically significant relationship between isolated MVP and joint hypermobility as well as between the severity of JHM and echocardiographic features of the mitral leaflets. These results suggest a common etiology for MVP and JHM, which should be investigated in future well-conducted studies. © 2008, Tehran University of Medical Sciences. All rights reserved