Genetic Condition

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Could congenital heart defects be related to a genetic condition?

Could congenital heart defects be related to a genetic condition?

One genetic condition that can affect the heart and other parts of the body is 22q11.2 Deletion Syndrome or 22q11.2DS. People with 22q11.2DS are missing a tiny piece of one chromosome in each cell of their body. This can cause a wide range of health problems. 22q11.2DS is the second most common cause of heart defects.

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Providing Services for Families With a Genetic Condition: A Contrast Between Cystic Fibrosis and Down Syndrome

Providing Services for Families With a Genetic Condition: A Contrast Between Cystic Fibrosis and Down Syndrome

The services available to families with a child born with a genetic condition are determined by many factors, including the type of genetic condition and its frequency, the medical needs of the child, and available resources. Models of service delivery also impact on the extent and type of services provided. Conditions diagnosed through a population-wide newborn screening program may have follow-up services embedded within the program, at least for the immediate period after diagnosis. Conditions di- agnosed in a more ad hoc way may not have com- prehensive services provided for the child and the family. Other factors impacting on genetic services that may be equally important, but are more difficult to quantify, relate to community attitudes to partic- ular genetic conditions, or to disability generally, and the capacity of interested parties to lobby for services. During the past decade prenatal testing programs have expanded. More conditions can be detected, and the proportion of the population to whom tests are available has increased. Prenatal tests such as ultrasound and maternal serum screening are now offered to pregnant women on a routine basis to determine the risk of Down syndrome and neural tube defects. Prenatal diagnosis of many conditions
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Family planning decisions for parents of children with a rare genetic condition: a scoping review

Family planning decisions for parents of children with a rare genetic condition: a scoping review

S5 TI ( (decid* OR decision OR choos* OR choice* OR plan* OR inten* OR options) AND (preconceptual OR "pre fertili?ation" OR prefertili?ation OR PIGM OR CVS OR "antenatal diagnosis" OR FTS OR "first trimester screening" OR "noninvasive genetic testing" OR "prenatal screening" OR "antenatal screening") ) OR AB ( (decid* OR decision OR choos* OR choice* OR plan* OR inten* OR options) AND (preconceptual OR "pre fertili?ation" OR prefertili?ation OR PIGM OR CVS OR "antenatal diagnosis" OR FTS OR "first trimester screening" OR "noninvasive genetic testing" OR "prenatal screening" OR "antenatal screening") )
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Comorbidities and Complications of Spinal Fusion for Scoliosis

Comorbidities and Complications of Spinal Fusion for Scoliosis

Despite these limitations, the findings from the current study underscore the importance of both chronic conditions and acute illnesses in children with a complex neuromuscular or genetic condition undergoing spinal fusion. General pediatricians, hospitalists, anesthesiologists, intensivists, surgeons, and others may find it useful to review these conditions and illnesses as they continue to assess how to best optimize the children’s health recovery. In particular, it may be important for subsequent initiatives to understand the clinical mechanisms predominately responsible for the relationships between the conditions and hospital resource use. It may also be
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<p>A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis</p>

<p>A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis</p>

Abstract: Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. In the last four years, her triglycerides and lipase concentration reached >3000 mg/dL and >700 U/L, respectively. The patient was not responsive to statins, fi brates, or tetrahydrolipstatin. A novel homozygous frameshift muta- tion on exon 3 of the APOC2 gene was detected, c.133_134delTC. Subsequent Sanger sequencing con fi rmed that three fi rst-degree relatives were carriers of the same mutation. To the best of our knowledge, we are reporting the fi rst Colombian patient with FCS due to an APOC2 mutation. We propose that this mutation caused recurrent hypertriglyceridemic pancreatitis.
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Hereditary Gingival Fibromatosis: Report of Family Pedigree of Three Generations

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Andrade CR et al., has stated that TGF-β 1 has an autocrine role as a stimulator of HGF fibroblast proliferation [5]. This case report deals with the hereditary gingival fibromatosis of three consecutive generations of a family. The report also describes the diagnosis, clinical and microscopic features along with the treatment of hereditary gingival fibromatosis, highlighting the importance of genetic condition by pedigree analysis.

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Article: Morphological characterization and assessment of genetic parameters of NERICA mutant rice lines under rainfed condition

Article: Morphological characterization and assessment of genetic parameters of NERICA mutant rice lines under rainfed condition

characters and genetic parameters assessment in aus season, 2014 at the experimental field of Biotechnology division, BINA, BAU Campus, Mymensingh-2202 following Randomized Complete Block Design (RCBD) with three replications. The genotypes differed significantly for all the traits viz., days to flowering (1 st , 50%, 80%), days to maturity, plant height, total tillers and effective tillers hill -1 , filled and unfilled grains panicle -1 , 100-seed weight (g) and yield plant -1 (g).N 1 /300/P-9-5 had maximum yield plant -1 and N 4 parent had minimum
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Ecm parameters for generating surface having low coefficient of friction in lubricated condition by using genetic algorithm

Ecm parameters for generating surface having low coefficient of friction in lubricated condition by using genetic algorithm

The ability to machine very complex features in hard and difficult to machine materials with negligible tool wear, reasonable accuracy and acceptable surface finish has made important non- any process parameters both controllable and uncontrollable determine the material removal 6]. Statistical design has been used extensively to model the effect of different process parameters of ECM on output parameters such as surface roughness, material removal rate (MRR), overcut [5,7-10] etc. Maximizing one output parameter usually affects another desirable output parameter. A variety of approaches such as programming [11], Particle swarm optimization [12-14], Desirability Approach [15, 16], Genetic algorithm has been employed to find a set of optimal solutions involving 9, 17]. In this paper a set of ns i.e. Pareto front is obtained using multi objective genetic algorithm. However, choosing a dominated solution is not easy. Clustering solutions in Pareto front has been used by ethod of choosing the representative solution is to select the non dominated solution
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Monitoring liveweight to optimise health and productivity in pasture[ ]fed dairy herds : a dissertation presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy at Massey University

Monitoring liveweight to optimise health and productivity in pasture[ ]fed dairy herds : a dissertation presented in partial fulfilment of the requirements for the degree of Doctor of Philosophy at Massey University

Assessment of BCS and LW provide alternative tools to assess body fat reserves and energy status of dairy cows. Body condition scoring is widely regarded as a quick, non- invasive metric (Wildman et al. 1982, Butler & Smith 1989, Domecq et al. 1997a,b, Berry, Buckley & Dillon 2007). However, the inter-assessor variability that arises from the sub- jective nature of BCS recording (Ferguson et al. 1994, Kristensen et al. 2006) makes the use of more objective methods such as measuring LW appealing. In addition, automation of body condition scoring has, to date, been unsuccessful. Automatic daily weighing of cows is possible and facilitates the monitoring of ∆LW which has been associated with fertility (Buckley et al. 2003) and, more recently, with milk production (Bossen et al. 2009). Also, several studies have shown that the genes influencing BCS and LW are closely linked. These studies reported moderate (0.34 – 0.55) phenotypic (Enevoldsen & Kristensen 1997, Berry et al. 2002) and genetic (Berry et al. 2002) correlation between BCS and LW in dairy cattle. Using LW as a tool to assess an animal’s energy status has been discouraged due to the potential confounding effects of parity, stage of lactation, frame size, stage of gestation and breed. It has been concluded that measurement of LW postpartum does not ‘necessarily’ provide a reflection of an individual cow’s true energy status (Roche, Friggens, Kay, Fisher, Stafford & Berry 2009). This is true, particularly if LW is being measured on cross-sectional basis (i.e. at certain key points in a cow’s production cycle), however, continuous monitoring of LW presents a much different sce- nario.
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Condition Monitoring & Condition Based Maintenance

Condition Monitoring & Condition Based Maintenance

Julian Zec works with development of global CM and CBM solutions with focus on analytics and knowledge/communication systematization for National Oilwell Varco. He has his degree in MSc Cybernetics, Signal Processing and physics, Bsc Clinical Engineering from the University of Stavanger, and a grade in Organizational Development and Leadership from Norwegian School of Economics in Bergen (NHH), certificate in chemistry. He has 10 years of work experience in the oil and gas industry – within R&D, engineering, EPCI and operations (offshore and onshore) from NOV, Seadrill and FMC Technologies, and is currently working as an Engineering Manager Condition Monitoring at NOV.
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Legislation and Genetic Discrimination

Legislation and Genetic Discrimination

There has been one case filed by the EEOC involving a challenge to genetic testing under the ADA. On February 9, 2001, the EEOC sued Burlington North Santa Fe Railroad, charging that the railroad violated the ADA by requiring employees who filed claims for work-related carpal tunnel syndrome to provide blood samples in order to determine whether they had a genetic susceptibility to the condition. Presumably, if they were genetically susceptible to the disease, it would not be a work-related injury, and the railroad would not have to pay the claim. On February 12, 2001, the defendant announced that it would voluntarily stop conducting the genetic tests, and the matter settled in April of 2001, so no court opinion was issued in the case.
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Genetic Diversity Studies under Moisture Stress Condition in Mungbean (Vigna radiata (L.) Wilczek)

Genetic Diversity Studies under Moisture Stress Condition in Mungbean (Vigna radiata (L.) Wilczek)

The current demand to develop high yielding and drought tolerant genotypes necessitated an immediate need to breed suitable high yielding varieties under drought conditions. In order to reach this goal, drought tolerance and high yield is essential to identify and concentrate on the important traits that could contribute to optimum yields under drought. Hence, choosing genetically diverse parents will enable the expansion of genetic base and development of superior genotypes. Keeping this in view, the present study was understand to estimate the genetic diversity on yield and drought contributing characters using Mahalanobi's D 2 statistic.
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Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement

Abstract This review provides an overview of the involvement of the corpus callosum (CC) in a variety of developmental disorders that are currently defined exclu- sively by genetics, developmental insult, and/or behavior. I begin with a general review of CC development, connec- tivity, and function, followed by discussion of the research methods typically utilized to study the callosum. The bulk of the review concentrates on specific developmental disorders, beginning with agenesis of the corpus callosum (AgCC)—the only condition diagnosed exclusively by callosal anatomy. This is followed by a review of several genetic disorders that commonly result in social impairments and/or psychopathology similar to AgCC (neurofibromato- sis-1, Turner syndrome, 22q11.2 deletion syndrome, Williams yndrome, and fragile X) and two forms of prenatal injury (premature birth, fetal alcohol syndrome) known to impact callosal development. Finally, I examine callosal involvement in several common developmental disorders defined exclusively by behavioral patterns (developmental language delay, dyslexia, attention-deficit hyperactive disorder, autism spectrum disorders, and Tourette syndrome). Keywords Corpus callosum . White matter . Brain
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Microelements and Inherited Metabolic Diseases

Microelements and Inherited Metabolic Diseases

Several other genetic defects derived from impaired uti- lization of trace minerals (selenium and manganese, e.g.) have been considered, but the pathogenesis is still not cle- ar. As the number of known inherited metabolic diseases gradually increases, new defects of microelements will pro- bably be recognised in the future. However, since the clini- cal picture is usually non-specific and the detection of their deficiency or accumulation requires application of special analytical techniques, the diagnostics might be rather diffi- cult.

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Genetic diversity analysis of rice (Oryza sativa) genotypes for seedling characters under saline - alkaline condition

Genetic diversity analysis of rice (Oryza sativa) genotypes for seedling characters under saline - alkaline condition

Rice is an important food crop for the entire world population. While active efforts are being made to increase rice productivity, a considerable amount of rice biomass for which genetic potential exists in the present-day cultivars is not harvested under field conditions, primarily because of the sensitivity of this crop to various stresses (Shimamoto, 1999). Among various stresses, salt stress is certainly one of the most serious environmental factors limiting the productivity and quality of the crop produce (Gepstein et al.2006). Globally, 831 million ha soils was salt affected out of which 47.8 per cent (397 million ha) are saline in nature (Salinity news, 2010). In Asia alone, 21.5 million ha of land area is thought to be salt affected (FAO, 2009), with India having 6.73 million ha salt-affected area (Mandal et al., 2009). The use of some management options can ameliorate yield reduction under salinity stress but the implementation is often limited because of cost and availability of good quality water resources. Therefore, the development of salt tolerant varieties would be a practical solution to address this problem. However, efforts to improve crop performance under environmental stress have not been that fruitful because the fundamental mechanisms of stress tolerance in crop plants remain to be completely understood (Yamaguchi and Blumwald, 2005). Understanding of physiological and genetic mechanisms is necessary for a breeding programme, in order to select the desired trait in the different genetic backgrounds (Munns et al., 2006). Thus the present study was carried out with objective to study the genetic
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Genetic evaluation of rice genotypes for zinc deficiency tolerance and yield traits under aerobic condition in rice

Genetic evaluation of rice genotypes for zinc deficiency tolerance and yield traits under aerobic condition in rice

Rice, the staple food of the country is cultivated predominantly under irrigated conditions. Being an extravagant consumer of water, rice uses around 5000 litres of fresh water to produce 1kg of rice (Bouman, 2009). The increase in depletion of fresh water resources is a major threat to the traditional way of rice cultivation. To combat this problem water-saving rice production system like, aerobic rice cultivation is being popularized to obtain optimum yield with less water consumption. Aerobic rice is a production system under which input responsive rice varieties with aerobic adaptation are grown in non-puddled and non-saturated soils (Bouman et al., 2002). To obtain high grain yield under aerobic method of cultivation, there is a need to develop new rice varieties which are drought tolerant and better nutrient absorbers especially micro nutrients like zinc for the fact that zinc becomes unavailable due to positive soil redox potential (Gao et al.,2012). So, genetic improvement of rice genotypes for zinc deficiency tolerance and better yield traits under aerobic condition is essential to exploit the water saving potential of aerobic condition.
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<p>Self-Management Plans in Patients with Hereditary Angioedema: Strategies, Outcomes and Integration into Clinical Care</p>

<p>Self-Management Plans in Patients with Hereditary Angioedema: Strategies, Outcomes and Integration into Clinical Care</p>

Several steps are necessary in devising a self- management plan independent of the chronic condition experienced by the patient. Foremost is the individual ’ s own values and preferences. Detailed discussions about the particular medical condition, the various treatment options available and their effects and side effects need to be discussed so informed decisions can be made. The medical practitioner needs to assess the knowledge, skills and attitudes of the patient to determine the best way forward. Careful discussion of how the plan is to be used with checks on patient understanding performed. Follow up visits for monitoring successful implementation, iden- ti fi cation of any barriers or problems and continuing edu- cation, are necessary. Appropriate noti fi cation of the care plan in the medical fi le is the fi nal step in the process. 2
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Cluster Analysis for Evaluation of Genetic Diversity inEnset (Enset ventricosum(Welw.) Cheesman) Clones at Areka Condition

Cluster Analysis for Evaluation of Genetic Diversity inEnset (Enset ventricosum(Welw.) Cheesman) Clones at Areka Condition

morphological characterization of enset (Enset ventricosum) clones and the association of yield with different traits by Endale[3], clones with similar phenotypic appearance were clustered in the same classes. Thus, there is a probability to cluster similar clones together which will help to minimize a large number of vernaculars grown in different growing areas. Accordingly D 2 analysis is also used to estimate the existing genetic distant among Enset germplasm. Hence, this proposal is initiated with the following objectives.

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Evaluation of genetic parameters in agro-physiological traits of wheat (Triticum aestivum L.) under irrigated condition

Evaluation of genetic parameters in agro-physiological traits of wheat (Triticum aestivum L.) under irrigated condition

335 | Page to selection on one character from selection on another trait. If the genetic covariance between two traits is different from zero, selection on one trait will affect response to selection on the other (Guillaume and Whitlock, 2007). According to the results (Table 4), the highest genetic and phenotypic covariance observed between SC and GY (-417, 128), RWL and GY (187, 109) and QY and GY (-424, -1074) traits, respectively. High values of genetic and/or phenotypic covariance between two traits may represent a high level of variation (genetic, phenotypic or both) between two traits. High values of genetic variation in breeding programs can be very useful. Also result suggested that selection for low quantity of QY and high value of SC and RWL will increase GY indirectly under irrigated condition.
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Parental experiences of raising a child with medium chain Acyl CoA Dehydrogenase deficiency

Parental experiences of raising a child with medium chain Acyl CoA Dehydrogenase deficiency

The number of families raising a child with MCADD will have increased as a result of the NBS program enabling pre- vention of premature death. However, the social effects of the condition on the family have received very limited attention in the literature. A wide ranging ethnographic study examin- ing the NBS program in the United States offered valuable insights into early parental responses to the disease: the shock, devastation, and fear they experience at diagnosis; the medi- cal guidance and advice they receive around managing the condition during infancy; and the ways in which that manage- ment is negotiated between doctors and parents (Buchbinder & Timmermans, 2012; Timmermans & Buchbinder, 2013). A small study of parents (n = 11) with MCADD children under 4 years found that parenting stress levels were significantly lower than the normative levels for the U.S. population and attributed this to the personal and professional support they had received (Torkelson & Trahms, 2010). These findings contrast with those from a larger study that explored parents’ perspective on child development, expectations for the future, and burdens on family life for a range of metabolic conditions (Gramer et al., 2014). Gramer et al. surveyed parents of 187 children aged from 6 months to 12 years (M = 3.5 years) with metabolic conditions of which 25% had MCADD. Despite good outcomes for the children identified through the NBS, a considerable proportion of parents (75%) reported that the disorder and treatment placed a substantial burden on their family. A total of 56% rated the burden as mild or medium and 19% rated it as severe or very severe. There were higher odds of severe or very severe burden for the family for diag- noses with a risk of metabolic crisis as compared with those without such a risk. However, there was no explanation of what constituted that burden of care.
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