Analysis of MTHFR and MTRR Gene Polymorphisms in Iranian Ventricular Septal Defect Subjects

Ventricular septal defect (VSD) is one of the most common types of congenital heart defects (CHD). There are vivid multifactorial causes for VSD in which both genetic and environmental risk factors are consequential in the development of CHD. Methionine synthase reductase (MTRR) and methylenetetrahydrofolate reductase (MTHFR) are two of the key regulatory enzymes involved in the metabolic pathway of homocysteine. Genes involved in homocysteine/folate metabolism may play an important role in CHDs. In this study; we determined the association of A66G and C524T polymorphisms of the MTRR gene and C677T polymorphism of the MTHFR gene in Iranian VSD subjects. A total of 123 children with VSDs and 125 healthy children were included in this study. Genomic DNA was extracted from the buccal cells of all the subjects. The restriction fragment length polymorphism polymerase chain reaction (PCR-RFLP) method was carried out to amplify the A66G and C524T polymorphism of MTRR and C677T polymorphism of MTHFR genes digested with Hinf1, Xho1 and Nde1 enzymes, respectively. The genotype frequencies of CC, CT and TT of MTRR gene among the studied cases were 43.1%, 40.7% and 16.3%, respectively, compared to 52.8%, 43.2% and 4.0%, respectively among the controls. For the MTRR A66G gene polymorphism, the genotypes frequencies of AA, AG and GG among the cases were 33.3%, 43.9% and 22.8%, respectively, while the frequencies were 49.6%, 42.4% and 8.0%, respectively, among control subjects. The frequencies for CC and CT genotypes of the MTHFR gene were 51.2% and 48.8%, respectively, in VSD patients compared to 56.8% and 43.2% respectively, in control subjects. Apart from MTHFR C677T polymorphism, significant differences were noticed (p < 0.05) in C524T and A66G polymorphisms of the MTRR gene between cases and control subjects.     

A new tool for sharing and querying of clinical documents modeled using HL7 Version 3 standard

We present a new software tool called CDN (Collaborative Data Network) for sharing and querying of clinical documents modeled using HL7 v3 standard (e.g., Clinical Document Architecture (CDA), Continuity of Care Document (CCD)). Similar to the caBIG initiative, CDN aims to foster innovations in cancer treatment and diagnosis through large-scale, sharing of clinical data. We focus on cancer because it is the second leading cause of deaths in the US. CDN is based on the synergistic combination of peer-to-peer technology and the extensible markup language XML and XQuery. Using CDN, a user can pose both structured queries and keyword queries on the HL7 v3 documents hosted by data providers. CDN is unique in its design – it supports location oblivious queries in a large-scale, network wherein a user does not explicitly provide the location of the data for a query. A location service in CDN discovers data of interest in the network at query time. CDN uses standard cryptographic techniques to provide security to data providers and protect the privacy of patients. Using CDN, a user can pose clinical queries pertaining to cancer containing aggregations and joins across data hosted by multiple data providers. CDN is implemented with open-source software for web application development and XML query processing. We ran CDN in a distributed environment using Amazon EC2 as a testbed. We report its performance on real and synthetic datasets of discharge summaries. We show that CDN can achieve good performance in a setup with large number of data providers and documents.     

Systemic pharmacologic therapy of ARDS

OBJECTIVE: Amid growing consumer demand and professional society recommendations for more information on early childhood development, current practices of pediatricians in regard to children's development remain largely unknown. We investigate whether there are differences in provider practices and satisfaction with regard to children's development (based on length of time in practice). DESIGN: A self-reported survey was conducted of physicians at 30 pediatric practices participating in the Healthy Steps for Young Children Program. Healthy Steps is a national program to enhance the developmental potential of young children. Comparisons were made among physicians categorized as in training (n = 88), recently in practice (completing residency from 1984 to 1996, n = 69), or more experienced (completing residency prior to 1984, n = 52). PRINCIPAL FINDINGS: Relative to those recently in practice and in training, more experienced pediatricians spend less time in well-baby visits in the first 2 months of life. One-third of physicians conduct family risk assessments, half complete routine developmental screening, and over half do safety risk assessments in the first 2 months of life. There were few differences by provider experience in the topics covered under anticipatory guidance for new parents. Nearly all discussed infant car seats, sleep position, feeding practices, and temperament, but less than half routinely discussed domestic violence, and between half and three-quarters discussed infant bathing, maternal depression, and appropriate discipline practices. While all three groups of physicians were satisfied with the amount of time to discuss growth and development and parenting issues, more experienced physicians were more satisfied with their own and their staff's abilities to meet new parents' needs on these issues. Factors that over one-third of physicians reported affected their ability to deliver the best-quality care were shortage of support staff, limited referral sources, managed-care restrictions on referrals for special services, excessive paperwork, and lack of time for follow up, teaching parents, and answering questions. Physicians in recent practice were more likely than more experienced physicians to cite reimbursement concerns and limited staff to address the needs of parents regarding development. CONCLUSIONS: Most pediatricians do not conduct routine developmental screening in the first 2 months of life, and most discuss safety, as opposed to developmental and mental health, concerns with parents of newborns. Pediatricians with more experience believe they are better meeting new parents' needs and are less likely to cite systems and organizational factors as limiting their ability to deliver high-quality care.     

Once-daily milking effects in high-yielding Alpine dairy goats

Two experiments were conducted to determine the milk loss of high-yielding Alpine goats resulting from once-daily milking (ODM) and its relationship to udder cisternal size. We investigated the effects of application of this management strategy on milk yield, composition, and technological parameters: lipolysis, fat globule size, and cheese yield. In a second experiment, we investigated the effect of repeated periods of ODM management during lactation. Goats at the beginning of both experiments were at 25 d in milk on average and were previously milked twice daily (twice-daily milking; TDM). In experiment 1, which was conducted for 2 periods (P) of 9 wk (P1, P2), 48 goats were grouped (1, 2, 3, and 4) according to milk yield, parity, and somatic cell count (SCC). Over the 2 periods, goats from group 1 were managed with TDM and those from group 2 were managed with ODM. In group 3, goats were assigned to TDM during P1 and ODM during P2, conversely, those in group 4 were assigned to ODM in P1 and TDM in P2. During P1, the 12 goats from group 3 underwent 2 distinct morning machine milkings to measure milk repartition (cisternal and alveolar) in the udder based on the “atosiban method.” On P1 plus the P2 period of 18 wk, milk loss caused by ODM (compared with TDM) was 16%. In our condition of 24-h milk accumulation, there was no correlation between milk loss and udder cisternal size. Milk fat content, fat globule size, or apparent laboratory cheese yield was not modified by ODM, but milk protein content (+2.7 g/kg), casein (+1.8 g/kg), milk soluble protein concentration (+1.0 g/kg), and SCC increased, whereas lipolysis decreased (−0.3 mEq/100 g of oleic acid). In experiment 2, which was conducted for 4 periods (P1, P2, P3, P4) of 5 wk each, 8 goats, blocked into 2 homogenous groups (5 and 6), were used to study the effects of a double inversion of milking frequency (TDM or ODM) for 20 wk of lactation. Milk loss was 17% and ODM did not modify milk fat or protein contents, SCC, casein, or milk soluble protein concentration, but lipolysis was decreased (−0.3 mEq/100 g of oleic acid). Neither experiment showed the effects of period of ODM management on milk yield, milk fat or protein content, SCC, fat globule size, lipolysis, casein, milk soluble protein concentration, or apparent laboratory cheese yield.