Epidemiological study of neural tube defects in Jammu division, India

Background: Prevalence and spectrum of neural tube defects has undergone seasonal and secular variations in different regions of the world since the turn of last century. However precise etiology inspite of lot of research has not been clearly elucidated.Methods: The study was conducted in Government Medical College Hospital and SMGS Hospital Jammu in patients diagnosed to have a neural tube defect from birth to 19 years. History regarding sociodemographic profile, antenatal history and significant birth history was elicited. Complete general physical examination, Local examination of the lesion was carried out and neural tube defects were classified. All the cases were subjected to ultrasound head to determine ventricular size and rule out hydrocephalus. The data was entered in Microsoft Excel and results were presented in form of percentages and proportions.Results: Maximum children admitted were in the age group of <1 month and belonged to Jammu district. Commonest anomaly seen was lumbosacral meningomyelocele with associated hydrocephalus and neural deficit. Mothers who gave birth to an NTD affected child were commonly in the age group of 20-30 years, with commonest NTD affected sib being 1stborn and most of parents being from very low socio-economic strata of society. Only 7 mothers had received antenatal advice with ultrasound and almost none had received folic acid either before or after conception.Conclusions: Neural tube defects appear to be fairly common anomaly among females of lower socioeconomic strata, living in far flung mountainous regions of the state, devoid of proper health care facilities and education

Opposite effects of "mstnb" and "inhbaa" on cardiomyocyte proliferation during development and repair

The adult mammalian heart is unable to regenerate lost myocardial tissue after injury. In contrast, some lower vertebrates including zebrafish are able to undergo complete epimorphic regeneration following multiple types of cardiac injury. During the process of regeneration, spared zebrafish cardiomyocytes in the vicinity of the injured area undergo dedifferentiation and proliferation, thereby giving rise to new cardiomyocytes which replace the injured muscle. Insights into the molecular networks controlling these regenerative processes might help to develop novel therapeutic strategies to restore cardiac performance in humans. While TGF-β signaling has been implicated in zebrafish cardiac regeneration, the role of individual TGF-β ligands remains to be determined. Here, I report the opposing expression response of two TGF-β ligand genes, mstnb and inhbaa, during zebrafish heart regeneration. Using gain- and loss-of-function approaches, I show that these ligands exert opposite effects on cardiac regeneration and specifically on cardiomyocyte proliferation. Notably, I show that overexpression of mstnb and loss of inhbaa negatively regulate cardiomyocyte proliferation and therefore disturb cardiac regeneration. In contrast, loss of mstnb and activation of inhbaa not only promote physiological cardiomyocyte proliferation but also enhance cardiac regeneration. I also identify Inhbaa as a mitogen which promotes cardiomyocyte proliferation independent of the well-established Nrg-ErbB signaling. Mechanistically, I unraveled that Mstnb and Inhbaa function through alternate Activin type 2 receptor complexes to control the activities of the signal transducers, Smad2 and Smad3, thereby regulating cardiomyocyte proliferation. Altogether, I reveal novel and unidentified opposite functions of two TGF-β ligands during cardiac development and regeneration, resulting in a pro-mitogenic as well as an anti-mitogenic effect on cardiomyocytes. This study should therefore stimulate further research on targeting specific TGF-β family members to generate novel regenerative therapeutic strategies

Intelligent Nano-tech Switch for Advanced Automated Plant Growth Regulation

Precise control of plant growth is important to know the effect of external growth factors on crop yield. A nano-tech switch mechanism automaticallyoperated by plant stem expansion was designed to control the major external growth factors for plant such as light and water level in soil. Nano level expansion of stem produced by the dynamism of fluid (water) uptake by stimulation of sunlight is measured using laser interferometry to determine the elasticity of switch. Switching parameter was determined by nano level growth characteristics which were mathematically correlated with fluid flow rate and elastic property of the stem. Supply of two major external growth factors in irrigation system were controlled intelegently by plant morphological and physical response, which are dependent on other major and minor growth factors and with their variable combinations. The methodology is useful in irrigation system

Intelligent Nano-tech Switch for Advanced Automated Plant Growth Regulation

Precise control of plant growth is important to know the effect of external growth factors on crop yield. A nano-tech switch mechanism automatically operated by plant stem expansion was designed to control the major external growth factors for plant such as light and water level in soil. Nano level expansion of stem produced by the dynamism of fluid (water) uptake by stimulation of sunlight is measured using laser interferometry to determine the elasticity of switch. Switching parameter was determined by nano level growth characteristics which were mathematically correlated with fluid flow rate and elastic property of the stem. Supply of two major external growth factors in irrigation system were controlled intelegently by plant morphological and physical response, which are dependent on other major and minor growth factors and with their variable combinations. The methodology is useful in irrigation system

Impaired retinoic acid signaling in cerebral cavernous malformations

International audienceThe capillary-venous pathology cerebral cavernous malormation (CCM) is caused by loss o CCM1/Krev interaction trapped protein 1 (KRIT1), CCM2/MGC4607, or CCM3/PDCD10 in some endothelial cells. Mutations o CCM genes within the brain vasculature can lead to recurrent cerebral hemorrhages. Pharmacological treatment options are urgently needed when lesions are located in deeply-seated and inoperable regions o the central nervous system. Previous pharmacological suppression screens in disease models o CCM led to the discovery that treatment with retinoic acid improved CCM phenotypes. This nding raised a need to investigate the involvement o retinoic acid in CCM and test whether it has a curative eect in preclinical mouse models. Here, we show that components o the retinoic acid synthesis and degradation pathway are transcriptionally misregulated across disease models o CCM. We complemented this analysis by pharmacologically modiying retinoic acid levels in zebrash and human endothelial cell models o CCM, and in acute and chronic mouse models o CCM. Our pharmacological intervention studies in CCM2-depleted human umbilical vein endothelial cells (HUVECs) and krit1 mutant zebrash showed positive eects when retinoic acid levels were increased. However, therapeutic approaches to prevent the development o vascular lesions in adult chronic murine models o CCM were drug regiment-sensitive, possibly due to adverse developmental eects o this hormone. A treatment with high doses o retinoic acid even worsened CCM lesions in an adult chronic murine model o CCM. This study provides evidence that retinoic acid signaling is impaired in the CCM pathophysiology and suggests that modication o retinoic acid levels can alleviate CCM phenotypes

A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A

Abstract The genetics of many congenital heart diseases (CHDs) can only unsatisfactorily be explained by known chromosomal or Mendelian syndromes. Here, we present sequencing data of a family with a potentially multigenic origin of CHD. Twelve of nineteen family members carry a familial mutation [NM_004329.2:c.1328 G > A (p.R443H)] which encodes a predicted deleterious variant of BMPR1A. This mutation co-segregates with a linkage region on chromosome 1 that associates with the emergence of severe CHDs including Ebstein’s anomaly, atrioventricular septal defect, and others. We show that the continuous overexpression of the zebrafish homologous mutation bmpr1aa p.R438H within endocardium causes a reduced AV valve area, a downregulation of Wnt/ß-catenin signalling at the AV canal, and growth of additional tissue mass in adult zebrafish hearts. This finding opens the possibility of testing genetic interactions between BMPR1A and other candidate genes within linkage region 1 which may provide a first step towards unravelling more complex genetic patterns in cardiovascular disease aetiology