Bracelet Creases among Twins

Bracelet creases among the twins were examined. A total of 42 pairs of twins (monozygotic twins-16 pairs, dizygotic like sex twins-20 pairs and dizygotic unlike sex twins-6 pairs) from the states of West Bengal and Madhya Pradesh of India were studied for this purpose. High discordance value in dizygotic twins in various types of bracelet creases is found to be sufficient to account for the high estimates of heritability. Estimated value of heritability (0.80), however, corroborates this finding. This is indicative of major role played by genetic factors in the expression of the trait as compared to environmental factors

CRISPR/Cas9-gene editing approaches in plant breeding

ABSTRACTCRISPR/Cas9 gene editing system is recently developed robust genome editing technology for accelerating plant breeding. Various modifications of this editing system have been established for adaptability in plant varieties as well as for its improved efficiency and portability. This review provides an in-depth look at the various strategies for synthesizing gRNAs for efficient delivery in plant cells, including chemical synthesis and in vitro transcription. It also covers traditional analytical tools and emerging developments in detection methods to analyze CRISPR/Cas9 mediated mutation in plant breeding. Additionally, the review outlines the various analytical tools which are used to detect and analyze CRISPR/Cas9 mediated mutations, such as next-generation sequencing, restriction enzyme analysis, and southern blotting. Finally, the review discusses emerging detection methods, including digital PCR and qPCR. Hence, CRISPR/Cas9 has great potential for transforming agriculture and opening avenues for new advancements in the system for gene editing in plants

Anxiety and depression in parents of children and adolescents with intellectual disability

Background: Parents of the children and adolescents with intellectual disability (ID) are prone to psychological distress than as compared to parents of normally developing children and adolescents. Various biopsychosocial factors affect the perception and manifestation of this stress and influences difference in quality and severity in psychological outcomes. When a couple faces stress of caregiving as a unit, it is worthwhile to know and assess distribution pattern amongst the primary care giver and the other parent. Aim: The aim of the study is to evaluate the proportional distribution of depression and anxiety in primary care giver and the other parent in parents of children and adolescents with ID. Materials and Methods: Using a Cross-sectional observational study design, 99 parents (99 fathers and 98 mothers) of 99 children and adolescents (up to 18 yrs of age) with Intellectual Disability were assessed for Depressive and Anxiety symptoms using Hospital Anxiety and Depression Scale (HADS). Comparison of proportional distribution of psychiatric morbidity among fathers and mothers (primary care giver) was done using 2 independent sample proportion tests. Results: The mothers were found to be the primary care givers. 35.4% of fathers and 66.3% of mothers had significant depressive symptoms. 57.6% of fathers and 91.8% of mothers had significant anxiety symptoms. In 33 couples, fathers did not report anxiety or depressive symptoms but corresponding 27 mothers reported significant anxiety or depressive symptoms or both. In rest of the couples in whom fathers reported anxiety and/or depressive symptoms, the corresponding mothers also reported. In six couples where mothers did not report anxiety or depression, the fathers also did not report any anxiety or depressive symptoms. Conclusion: Depressive and Anxiety symptoms are very prevalent in parents of children with ID. Their proportion is significantly high in primary care giver (mother) as comparedto corresponding other parent (father). There is unequal distribution of anxiety and depression in these parents with a skew towards mother

<i>Cissus quadrangularis</i> (Hadjod) Inhibits RANKL-Induced Osteoclastogenesis and Augments Bone Health in an Estrogen-Deficient Preclinical Model of Osteoporosis Via Modulating the Host Osteoimmune System

Osteoporosis is a systemic skeletal disease characterised by low bone mineral density (BMD), degeneration of bone micro-architecture, and impaired bone strength. Cissus quadrangularis (CQ), popularly known as Hadjod (bone setter) in Hindi, is a traditional medicinal herb exhibiting osteoprotective potential in various bone diseases, especially osteoporosis and fractures. However, the cellular mechanisms underpinning its direct effect on bone health through altering the host immune system have never been elucidated. In the present study, we interrogated the osteoprotective and immunoporotic (the osteoprotective potential of CQ via modulating the host immune system) potential of CQ in preventing inflammatory bone loss under oestrogen-deficient conditions. The current study outlines the CQ’s osteoprotective potential under both ex vivo and in vivo (ovariectomized) conditions. Our ex vivo data demonstrated that, in a dose-dependent manner CQ, suppresses the RANKL-induced osteoclastogenesis (p p p p p p p p < 0.05) (TNF-α, IL-6, and IL-17). In conclusion, our data for the first time delineates the novel cellular and immunological mechanism of the osteoprotective potential of CQ under postmenopausal osteoporotic conditions

High Glucose-Mediated STAT3 Activation in Endometrial Cancer Is Inhibited by Metformin: Therapeutic Implications for Endometrial Cancer

<div><p>Objectives</p><p>STAT3 is over-expressed in endometrial cancer, and diabetes is a risk factor for the development of type 1 endometrial cancer. We therefore investigated whether glucose concentrations influence STAT3 expression in type 1 endometrial cancer, and whether such STAT3 expression might be inhibited by metformin.</p><p>Methods</p><p>In Ishikawa (grade 1) endometrial cancer cells subjected to media with low, normal, or high concentrations of glucose, expression of STAT3 and its target proteins was evaluated by real-time quantitative PCR (qPCR). Ishikawa cells were treated with metformin and assessed with cell proliferation, survival, migration, and ubiquitin assays, as well as Western blot and qPCR. Expression of apoptosis proteins was evaluated with Western blot in Ishikawa cells transfected with a STAT3 overexpression plasmid and treated with metformin. A xenograft tumor model was used for studying the <i>in vivo</i> efficacy of metformin.</p><p>Results</p><p>Expression of STAT3 and its target proteins was increased in Ishikawa cells cultured in high glucose media. <i>In vitro</i>, metformin inhibited cell proliferation, survival and migration but induced apoptosis. Metformin reduced expression levels of pSTAT3 ser727, total STAT3, and its associated cell survival and anti-apoptotic proteins. Additionally, metformin treatment was associated with increased degradation of pSTAT3 ser727. No change in apoptotic protein expression was noticed with STAT3 overexpression in Ishikawa cells. <i>In vivo</i>, metformin treatment led to a decrease in tumor weight as well as reductions of STAT3, pSTAT3 ser727, its target proteins.</p><p>Conclusions</p><p>These results suggest that STAT3 expression in type 1 endometrial cancer is stimulated by a high glucose environment and inhibited by metformin.</p></div

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report

Abstract Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness. Physical examination revealed differential finger extension weakness, together with predominant finger abduction, elbow flexion, ankle dorsiflexion and toe extension weakness. Muscle MRI showed disproportionate fatty infiltration of the glutei, sartorius and extensor digitorum longus muscles without significant wasting. Muscle biopsy and ultrastructural examination showed a non-specific myopathic pattern without nemaline or cap inclusions. Genetic sequencing revealed a novel heterozygous p.Ser246Leu variant (c.737C>T) of the TPM3 gene which is predicted to be pathogenic. This variant is located in the area of the TPM3 gene where the protein product interacts with actin at position Asp25 of actin. Mutations of TPM3 in these loci have been shown to alter the sensitivity of thin filaments to the influx of calcium ions. Conclusion This report further expands the phenotypic spectrum of myopathies associated with TPM3 mutations, as mutations in TPM3 had not previously been reported with adult-onset distal myopathy. We also discuss the interpretation of variants of unknown significance in patients with TPM3 mutations and summarise the typical muscle MRI findings of patients with TPM3 mutations