Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog

The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling. Hh signaling coordinates multiple aspects of left-right lateralization and cardiovascular growth. Being active at the venous pole the secondary heart field (SHF) is essential for normal development of dorsal mesenchymal protrusion and AVCD formation and septation. Experimental data show that perturbations of different components of the Hh pathway can lead to developmental errors presenting with partially overlapping manifestations and AVCD as a common denominator. We review the potential role of Hh signaling in the pathogenesis of AVCD in different genetic disorders. AVCD can be viewed as part of a "developmental field," according to the concept that malformations can be due to defects in signal transduction cascades or pathways, as morphogenetic units which may be altered by Mendelian mutations, aneuploidies, and environmental causes

Density Independent and Temperature Compensated Moisture Prediction Model for Agricultural Products Using Impedance Analyzer: A Review

Agricultural products play an essential role in stabilizing the country economy. Third largest sector of Indian economy is agricultural products. In agricultural products the important factor for post harvesting, processing, storage and transport, is moisture, which affect their quality. In modern agriculture fast, non-destructive and reliable sensing technique for determination of moisture content in agricultural crops is required to prevent the losses and to improve efficiency of production. Various techniques are available for moisture sensing in agricultural products and better results have been achieved with use for these techniques. The performance of developed method for moisture sensing is comparable with that of commercial moisture meter. The most reliable solution for measuring the moisture content of agricultural products and non-destructive method is use of bulk density dielectric function. This paper reviews the area of moisture determination methods for various agricultural products and summarizing the various electrical methods for moisture determination

Development of Moisture Prediction Model for Tea using Electrical Impedance Spectroscopy

Moisture is the most essential parameter for tea leaves for storage and consumption stage as it affects the physical and chemical aspects of tea leaves with which it relates the stability and freshness the tea leaves for a long time. The most essential parameter which affects the quality of tea leaves is moisture for post harvesting, processing, storage and transport. The main aim of this study is to development procedure for moisture content measurements of fresh tea leaves using measurement acquired by electrical properties. Method This relation is obtained the frequency range within between 100 kHz to 300 MHz and moisture content ranges between 2%-75%. A good relation between moisture content and correlate with variations in electrical properties viz. IZI, Ѳz, R, Cp, Cs has been observed by partial least square regression technique. Result Moisture prediction model was developed by applying electrical properties and that the new technique it was observed more accuracy obtained using a single parameter as compared with that moisture measurement. Conclusion the model which is developed can evaluated with in performance the moisture content a commercial moisture meter which is expected

To evaluate the efficacy of Siravyadha and Basti in the management of Siraja Granthi (Varicose Vein) - A Comparative Clinical Study

Background: In this changed lifestyle of human beings, he has become a victim of several diseases, amongst them one is Varicose Veins, which are caused due to long standing or sitting in chairs which causes extra load on veins to pump the blood against gravity towards the Heart, especially the veins of the legs. Finally the veins get fatigued that leads to dilation and cause Varicosity in veins. Objectives: To compare the effect of Siravyadhana and Basti in the management of Siraja Granthi (Varicose Vein). Methods: Cases presenting with classical signs and symptoms of Siraja Granthi were randomly divided into 2 groups. Group A was treated with Siravyadhana and Group B were subjected for Sahacharadi Basti. The data was collected before treatment and after 8th day and 30th days. The obtained data was statistically analyzed. Results: 20 patients in Group A, 93.33% reduction was seen in Shoola, while 93.02% reduction was found in Group B. In Gaurava 86.36% reduction was found in Group A and 85.71% reduction was seen in Group B. Shotha was decreased by 67.74% in Group A, while 62.65% in Group B. In Sira Utseda, 54.05% reduction was seen in Group A and 47.36% reduction in Group B. Conclusion: Group A, cases showed better improvement. Out of 20 patients, 2 patients got complete remission in Group A, 2 patients showed excellent response, while in Group B, 6 patients showed excellent response, In Group A and B, 11 and 8 patients showed good response respectively. In Group A and B, 5 and 6 patients showed moderate response

Potassium channels in C. elegans

Ion channels are the "transistors" (electronic switches) of the brain that generate and propagate electrical signals in the aqueous environment of the brain and nervous system. Potassium channels are particularly important because, not only do they shape dynamic electrical signaling, they also set the resting potentials of almost all animal cells. Without them, animal life as we know it would not exist, much less higher brain function. Until the completion of the C. elegans genome sequencing project the size and diversity of the potassium channel extended gene family was not fully appreciated. Sequence data eventually revealed a total of approximately 70 genes encoding potassium channels out of the more than 19,000 genes in the genome. This seemed to be an unexpectedly high number of genes encoding potassium channels for an animal with a small nervous system of only 302 neurons. However, it became clear that potassium channels are expressed in all cell types, not only neurons, and that many cells express a complex palette of multiple potassium channels. All types of potassium channels found in C. elegans are conserved in mammals. Clearly, C. elegans is "simple" only in having a limited number of cells dedicated to each organ system; it is certainly not simple with respect to its biochemistry and cell physiology

REPRODUCTIVE PARAMETERS OF THOROUGHBRED MARES IN CROATIA

For the purpose of gaining better cognition on Thoroughbred breeding in Croatia, reproductive parameters of 87 Thoroughbred mares were analyzed. An average age of the first covering and foaling were 5.9 and 6.6 years, respectively. The average gestation length was 341.1 days and the most frequent foaling period (20.2% of foalings) was recorded between 336 to 340 days of gestation. Prolonged gestation period (p<0.05) was determined in colts. The gestation length was the longest in January (344.4 days) and the shortest in July (324.0 days). Between the gestation length and the age of the mare no significant correlation was found. There was a trend of foaling rate decreasing in mares older than 11 years. The highest number of successively registered foalings with 10 live born foals was observed on 2 individual samples. The greatest number of foalings occurred in April (30.9%), whilst there was no foaling in October. The genders were 50.6% male and 49.4% female foals. The incidence of abortions was 7.3%. Although indicators point to the breeding strategy heading towards the right direction, by educating the owners and with frequent veterinary supervision, especially for twin reduction, the reproductive performance could be enhanced

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Background: Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability. Case presentation: We report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial tortuosity, bifid uvula, and inguinal hernias and oculocutaneous albinism (OCA) manifesting by white hair and skin that does not tan, nystagmus, reduced iris pigment with iris translucency, and reduced retinal pigment). We identified previously reported, homozygous mutations of TYR, c.1A &gt; G (p.Met1Val) and heterozygous, missense mutation of TGFBR1, c.1460G &gt; A (p.Arg487Gln). Family history revealed that his mother underwent multiple surgical repairs for recurrent hemorrhage originating from the buccal artery. Molecular studies confirmed a maternally inherited low grade TGFBR1 mutation somatic mosaicism (18% in peripheral blood leukocytes, 18% in buccal cells and 10% in hair root cells). Maternal cardiac investigations revealed peculiar cardiovascular features: mild tortuosity at the aortic arch, dilatation of the proximal abdominal aorta, multiple deep left ventricular myocardial crypts, and dysplastic mitral valve. TGFBR2 germline mosaicism has been described in three fathers of children carrying TGFBR2 mutations but, to the best of our knowledge, no case of maternally inherited TGFBR1 mutation mosaicism has been reported so far. Conclusions: This case report suggests that individuals with somatic mosaicism might be at risk for mild and unusual forms of LDS but germline mosaicism can lead to full blown picture of the disease in offspring

Prenatal attachment: using measurement invariance to test the validity of comparisons across eight culturally diverse countries

Studies in high-income countries (HICs) have shown that variability in maternal-fetal attachment (MFA) predict important maternal health and child outcomes. However, the validity of MFA ratings in low- and middle-income countries (LMICs) remains unknown. Addressing this gap, we assessed measurement invariance to test the conceptual equivalence of the Prenatal Attachment Inventory (PAI: Muller, 1993) across eight LMICs. Our aim was to determine whether the PAI yields similar information from pregnant women across different cultural contexts. We administered the 18-item PAI to 1181 mothers in the third trimester (Mean age = 28.27 years old, SD = 5.81 years, range = 18–48 years) expecting their first infant (n = 359) or a later-born infant (n = 820) as part of a prospective birth cohort study involving eight middle-income countries: Ghana, Jamaica, Pakistan, Philippines, Romania, South Africa, Sri Lanka and Vietnam. We used Multiple Group Confirmatory Factor Analyses to assess across-site measurement invariance. A single latent factor with partial measurement invariance was found across all sites except Pakistan. Group comparisons showed that mean levels of MFA were lowest for expectant mothers in Vietnam and highest for expectant mothers in Sri Lanka. MFA was higher in first-time mothers than in mothers expecting a later-born child. The PAI yields similar information about MFA across culturally distinct middle-income countries. These findings strengthen confidence in the use of the tool across different settings; future studies should explore the use of the PAI as a screen for maternal behaviour that place children at risk

Microbiota of human breast tissue

In recent years, a greater appreciation for the microbes inhabiting human body sites has emerged. In the female mammary gland, milk has been shown to contain bacterial species, ostensibly reaching the ducts from the skin. We decided to investigate whether there is a microbiome within the mammary tissue. Using 16S rRNA sequencing and culture, we analyzed breast tissue from 81 women with and without cancer in Canada and Ireland. A diverse population of bacteria was detected within tissue collected from sites all around the breast in women aged 18 to 90, not all of whom had a history of lactation. The principal phylum was Proteobacteria. The most abundant taxa in the Canadian samples were Bacillus (11.4%), Acinetobacter (10.0%), Enterobacteriaceae (8.3%), Pseudomonas (6.5%), Staphylococcus (6.5%), Propionibacterium (5.8%), Comamonadaceae (5.7%), Gammaproteobacteria (5.0%), and Prevotella (5.0%). In the Irish samples the most abundant taxa were Enterobacteriaceae (30.8%), Staphylococcus (12.7%), Listeria welshimeri (12.1%), Propionibacterium (10.1%), and Pseudomonas (5.3%). None of the subjects had signs or symptoms of infection, but the presence of viable bacteria was confirmed in some samples by culture. The extent to which these organisms play a role in health or disease remains to be determined. © 2014, American Society for Microbiology