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Will capsular distension and a little while regarding counter-traction improve final result following tricks beneath anaesthesia for the treatment of primary mastic capsulitis with the shoulder complex?
Neural tube defects (NTDs) are severe birth defects resulting from the failure of neural tube closure during embryogenesis. Both genetic and environmental factors contribute to the occurrence of NTDs and the heritability of NTDs is approximately 70%. As a key component of focal adhesions, Vinculin (VCL) plays pivotal roles in cell skeleton remodeling and signal transduction. Vcl deficient mice displayed NTD, but how VCL variants contribute to human NTDs has not been addressed yet.

We screened VCL variants in a Chinese cohort of 387 NTDs and 244 controls by targeted next-generation sequencing.

We identified four case-specific VCL variations (p.M209L, p.D256fs, p.L555V and p.R586Q). VCL p.D256fs and p.L555V are novel variations that have never been reported. Our analysis revealed that p.D256fs is a loss-of-function variant, while p.L555V showed a gain of function in planner cell polarity (PCP) pathway regulation and cell migration, probably due to its enhanced protein stability.

Our study reports human NTD specific novel variations in VCL and provides the functional evaluation of VCL variants related to the etiology of human NTDs.
Our study reports human NTD specific novel variations in VCL and provides the functional evaluation of VCL variants related to the etiology of human NTDs.
Imerslund-Gräsbeck syndrome (IGS) is a rare autosomal-recessive disorder characterized by selective vitamin B12 malabsorption, megaloblastic anemia, and proteinuria. read more The precise incidence of this disorder is unknown in the Middle East and Arab countries. The disease is caused by a homozygous variant in either AMN or CUBN genes. In addition, some compound heterozygous variants are reported.

Clinical and laboratory data of patients diagnosed with IGS in Oman were retrospectively collected. Mutation analysis for all genes involved in vitamin B12/folic acid metabolism and megaloblastic anemia was conducted using next-generation sequencing (NGS).

Three siblings (2 girls and a boy) have been diagnosed with the condition. They exhibit a phenotypic variability with different age of presentation and different spectrum of disease. All patients harbor a novel biallelic frameshift mutation in exon 11 of AMN gene (p.Pro409Glyfs*), which was not reported previously in the literature. Both parents are heterozygotes for the same variant. All patients responded well to vitamin B12 parenteral therapy, but proteinuria persisted.

In communities with high incidence of consanguinity, cases of early-onset vitamin B12 deficiency should be thoroughly investigated to explore the possibility of Imerslund-Gräsbeck syndrome and other vitamin B12-related hereditary disorders. Further local and regional studies are highly recommended.
In communities with high incidence of consanguinity, cases of early-onset vitamin B12 deficiency should be thoroughly investigated to explore the possibility of Imerslund-Gräsbeck syndrome and other vitamin B12-related hereditary disorders. Further local and regional studies are highly recommended.
We aim to provide a publicly available Hungarian version of the BPAQ; compare the BPAQ factors to other personality traits; and compare both the original BPAQ factor structure provided by Buss and Perry (J. Pers. Soc. Psychol., 63, 1992, 452), the revised BPAQ-SF factor structure by Bryant and Smith (J. Res. Pers., 35, 2001, 138), and the BAQ by Webster et al. (Aggress. Behav., 40, 2014, 120).

The validation of the Hungarian version of the BPAQ was carried out on a Hungarian university sample (N=841). There were three main focuses of data analysis descriptive statistics, correlations, and confirmatory factor analyses.

CFA-related statistics showed an adequate fit for the BPAQ 4 factors; however, contrary to prior validations of BPAQ, we were not able to clearly define the verbal aggression factor. We found that the shorter form of the BPAQ has a better model fit on our sample than the original form, while the model fit of the BAQ was in-between these. BPAQ scales showed low to moderate relationship with the Barratt Impulsivity Scale and Hospital Anxiety and Depression Scale.

Both the BPAQ and the BPAQ-SF, also the BAQ provide acceptable model fitting on a Hungarian sample of university students. While most of BPAQ items provided adequate loadings on their hypothesized factors, two items (21 and 27) did not. We argue this is the result of conceptual inaccuracy of the original items.
Both the BPAQ and the BPAQ-SF, also the BAQ provide acceptable model fitting on a Hungarian sample of university students. While most of BPAQ items provided adequate loadings on their hypothesized factors, two items (21 and 27) did not. We argue this is the result of conceptual inaccuracy of the original items.Since the outbreak of Coronavirus disease 2019 (COVID-19) in China, many researchers have reported the chest CT manifestations of COVID-19 pneumonia. High-resolution CT (HRCT) of the lung can provide important clues to understand the progressive behaviour of COVID-19 pneumonia. This pictorial essay discusses the early features and potential progressive behaviour of COVID-19 on HRCT of the lung.
Weight loss increases survivorship following breast cancer diagnosis. However, most breast cancer survivors (BCS) do not meet diet and exercise recommendations.

The purpose of this study was to explore the barriers and facilitators of BCS who had lymphedema and who participated in a 22-week weight loss lifestyle intervention.

Participants completed semi-structured interviews about barriers and facilitators to intervention adherence. Interviews were transcribed verbatim and a thematic analysis was conducted. Participants (n = 17) were 62 ± 8.0 years of age with a mean body mass index of 34.0 ± 7.1 kg/m
. Four themes emerged (1) facilitators of intervention adherence, (2) barriers of intervention adherence, (3) continuation of healthy habits post intervention, and (4) recommendations for intervention improvements. Facilitators of intervention adherence were education, social support, routine, motivation, goal-setting, meal-provisioning, self-awareness, and supervised exercise. Barriers to intervention adherence were personal life, health, meal dissatisfaction, seasonality, unchallenging exercises, and exercising alone.
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