Consanguinity Mapping of Congenital Heart Disease in a South Indian Population

Parental consanguinity is a risk factor for congenital heart disease (CHD) worldwide, suggesting that a recessive inheritance model may contribute substantially to CHD. In Bangalore, India, uncle-niece and first cousin marriages are common, presenting the opportunity for an international study involving consanguinity mapping of structural CHD. We sought to explore the recessive model of CHD by conducting a genome-wide linkage analysis utilizing high-density oligonucleotide microarrays and enrolling 83 CHD probands born to unaffected consanguineous parents. exons did not reveal causative mutations in Indian probands. In addition, genotyping of the linked allele (G) in 325 U.S. CHD cases revealed neither genotypic nor allele frequency differences in varied CHD cases compared to 605 non-CHD controls. may harbor recessive mutations leading to CHD in the Indian population. Further research involving large multinational cohorts of patients with specific subtypes of CHD is needed to attempt replication of the observed linkage peak on chromosome 14. In addition, we anticipate that a targeted re-sequencing approach may complement linkage analysis in future studies of recessive mutation detection in CHD

Assessment of operability in d-transposition of great arteries with ventricular septal defect: A practical method

Introduction : Pulmonary vascular disease is a risk factor in the surgical management of patients with d-transposition of great arteries (d-TGA) and a ventricular septal defect (VSD). In older infants or children with this physiology, the question of operability often arises. Cardiac catheterization in this condition can be fallacious. It is well known that oxygen reduces pulmonary arterial pressure and pulmonary vascular resistance especially where irreversible pulmonary vascular obstructive disease has still not set in. We tried to implement this effect of oxygen in correlation with echocardiography in patients with TGA-VSD physiology where operability was in question. Methods : Patients with d-TGA and a large post tricuspid shunt in whom operability was considered doubtful were selected for the study. We administered humidified oxygen at the rate of 10 litres/minute by mask for 48 hours in the ward or intensive care unit. After administration of oxygen we reassessed the child echocardiographically looking for signs of lowering of pulmonary vascular resistance which included increased pulmonary venous blood flow to the left atrium (LA) and right to left shunting across the VSD. Observation : We studied 1 patient with d-TGA and aortopulmonary window (APW), 4 patients with TGA / large VSD and 1 patient with Taussig-Bing anomaly. The age of the studied children ranged from 4 months to 3 years with a mean age of 1.1 years. After administering oxygen as described, echocardiogram showed an increase in pulmonary venous blood flow to the LA and right to left shunting across the VSD in 5 patients and increased flow reversal in aorta in presence of the APW. Conclusion : Patients with TGA/VSD physiology with doubtful operability can be subjected to this method of determining operability using echocardiography after administering oxygen. Although not 100% accurate in predicting long term postoperative pulmonary hypertension, this is a simple, noninvasive method that can aid in decision making in such a situation

Phenotypic distributions for affected patients in both the discovery and replication cohorts.

<p>*Complex defects refer to those lesions that had elements of multiple classes or did not conform to the preceding classifications.</p

Manhattan plot of results of linkage analysis.

<p>Dashed line indicates genome wide significant LOD score of 3.3. Significant SNPs, rs1055061 and rs12433225 are represented.</p

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Not AvailableThe study investigated the important epidemiological parameters and farm-level economic costs of FMD incidence in cattle and buffaloes during 2013-14 to 2015-16 in various states of India. Multistage random sampling procedure was adopted for the primary survey and data was collected through face-to-face personal interview from 18,609 cattle and buffalo rearing farm households from 123 districts across twelve states and one Union Territory. Besides epidemiological parameters, different farm-level direct and indirect loss associated with FMD was assessed at disaggregated level (states) by employing deterministic mathematical models. Highest number of affected villages and disease incidence was observed in non- FMD control programme (FMD-CP) implemented Madhya Pradesh and Assam states, respectively whereas negligible incidence was in FMD-CP implemented Punjab state. The disease incidence was high during 2013-14 and declined during 2014-15 and 2015-16, respectively implied severe incidence scenario (2013-14) succeeded by moderate (2014-15) and mild (2015-16) scenarios. The crossbred and high productive animals were severely affected than local breeds whereas on sexwise and agewise comparison revealed higher incidence in females and adult animals. During severe incidence scenario, milk loss/animal ranged from USD 6.87-47.44, 18.42-125.88, 16.33-91.43, and 27.17-123.62; mortality loss/animal ranged from USD 32.61-804.27, 30.76-577.7, 65.36-502.2, and 188.04-413.7; distress sale loss/animal ranged from USD 3.22-188.63, 64.34-519.3, 214.47-341.8, and 209.11-450.3; and opportunity cost of labour/animal from USD 5.49-54.29, 5.49-67.78; 7.95-31.37 and 9.83-72.38 in indigenous cattle, crossbred cattle, local and improved buffalo, respectively. The estimated draught power loss/animal varied from USD 39.46-142.94 with least being in Madhya Pradesh and highest in Assam states whereas the median treatment cost/animal was USD 9.18 and USD 27.07 in indigenous cattle and upgraded buffaloes, respectively. The total farm-level economic loss projected due to FMD in cattle and buffaloes in India was USD 3159 million (INR 221,110 million), USD 270 million (INR 18,910 million) and USD 152 million (INR 10,610 million), respectively during the severe, moderate and mild incidence scenarios at 2015-16 constant prices. The loss varied across the states, and in severe incidence scenario, the country might lose USD 3.2 billion/year and hence, the bi-annual vaccination schedule need to be strictly implemented in all the states. Besides timely vaccination coverage, managing unabated animal movement, educating and motivating the farmers to vaccinate their animals might reduce the incidence and consequential losses to various stakeholders in endemic states like IndiaNot Availabl

Evaluation of the safety, immunogenicity and efficacy of a new live-attenuated lumpy skin disease vaccine in India

ABSTRACTLumpy skin disease (LSD) was reported for the first time in India in 2019 and since then, it has become endemic. Since a homologous (LSD-virus based) vaccine was not available in the country, goatpox virus (GPV)-based heterologous vaccine was authorized for mass immunization to induce protection against LSD in cattle. This study describes the evaluation of safety, immunogenicity and efficacy of a new live-attenuated LSD vaccine developed by using an Indian field strain, isolated in 2019 from cattle. The virus was attenuated by continuous passage (P = 50) in Vero cells. The vaccine (50th LSDV passage in Vero cells, named as Lumpi-ProVacInd) did not induce any local or systemic reaction upon its experimental inoculation in calves (n = 10). At day 30 post-vaccination (pv), the vaccinated animals were shown to develop antibody- and cell-mediated immune responses and exhibited complete protection upon virulent LSDV challenge. A minimum Neethling response (0.018% animals; 5 out of 26,940 animals) of the vaccine was observed in the field trials conducted in 26,940 animals. There was no significant reduction in the milk yield in lactating animals (n = 10108), besides there was no abortion or any other reproductive disorder in the pregnant animals (n = 2889). Sero-conversion was observed in 85.18% animals in the field by day 30 pv