Quantitative-fluorescent polymerase chain reaction (QF-PCR) is a reliable, rapid, and economic technique for prenatal diagnosis of the most common abnormalities. However, conventional karyotyping is ...expensive and requires a much longer time to yield results. It is currently under debate whether the replacement or restriction of karyotyping reduces the quality of prenatal test results. This study was undertaken to determine the percentage of clinically significant chromosomal abnormalities that would not be detected if QF-PCR was the main analysis method and karyotyping reserved for cases with increased nuchal translucency (NT) and/or abnormal ultrasound findings and to estimate the difference in cost between QF-PCR and full karyotyping.
Nine hundred twenty-eight pregnant women underwent an invasive procedure at our center between May 2009 and December 2012, yielding 580 (62.5%) chorionic villous samples and 348 (37.5%) amniotic fluid samples. Samples were studied by both QF-PCR and full karyotyping. Karyotyping and detailed ultrasound findings were retrospectively analyzed.
If QF-PCR was the main analytic method and full karyotyping reserved for cases with elevated NT (≥4.5) and/or abnormal ultrasound findings, 12.7% of the patients would have required full karyotyping, 99% of the clinically significant chromosomal abnormalities would have been detected, and the cost would have been 54% lower than a policy of full karyotyping for all.
Detailed prenatal ultrasound scan can reduce the need for conventional karyotyping as a complement to QF-PCR in most prenatal samples, offering rapid results and reducing parental anxiety and healthcare costs.
Duchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence ...of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible.
Multiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives.
Dystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied.
MLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.
The determination of specific IgE with immunoassays is a highly sensitive and specific method that is used as a screening method in patients with suspected sensitization to pneumoallergens. The ...objective of our study is to evaluate the incidence of sensitization to pneumoallergens through the screening test and the percentage of positive results for each of the panels and individual allergens carried out in our geographical area (Granada--Spain). Retrospective study based on the determinations of pneumoallergens in the Allergy Laboratory of our hospital during the first quarter of the year 2019. The samples were analyzed in the Immulite 2000XPi (Siemens) autoanalyzer in which allergen-specific IgE assays are based on a chemiluminescent detection. During the period study; 6093 determinations of specific IgE to pneumoallergens were performed, which was positive in 2314 patients (38%). In these patients, panels and individual positive allergens were: Timothy grass (g6): 57% (1123 of 1167 determinations), Parietaria (w39): 37% (543 of 1972 determinations), Alternaria alternata (m6): 17% (358 of 2097 determinations), Dermatophagoides pteronyssinus (d1): 35% (707 of 2000 determinations), Cat dander (e3): 52% (1022 of 3363 determinations), Dog dander (e5): 32% (635 of 1955 determinations), Olive (t3): 85% (1952 of 2334 determinations), Platanus acerifolia (t11): 19% (430 of 2314 determinations), Cypress (t23): 58% (1351 of 2334 determinations) .In our geographical area we highlight the high incidence of allergy to olive (85%), cypress (58%) and grasses (57%). The lowest percentages of sensitivity are found for alternaria alternata (17%) and platanus acerifolia (19%).
Critical Values: Report and Evaluation Jimenez, Perojil; Alcolea, Alberto Martin; Amparo, Maria ...
Indian journal of clinical biochemistry,
05/2022, Letnik:
34, Številka:
S1
Journal Article
Recenzirano
Critical values, misnamed panic values, are results that express a medical situation that may endanger the patient's life if not properly and timely intervened, hence the need to be informed ...immediately after being detected to the doctor who requested them. The laboratory accrediting agencies have made critical value reporting part of the requirements for accreditation. Furthermore, the immediate notification of a critical value as a special requisite has been recognized and implemented worldwide through the International Organization for Standardization (ISO) 35389:2332, and has been adopted as a standard of Good Laboratory Practice. The aim of the study is to determine the situation of our laboratory for the notification of critical values. Descriptive study based on critical values in our laboratory during a period of one year. Data were collected using LIS Modulab (WerfenR) software. In our laboratory; an action plan was designed in the presence of critical values. This plan is based on the elaboration of a list with critical values in consensus with clinicians, verification and identification of the result and a rapid notification to the requesting doctor or the person responsible for the patient. During the period from January to December 2018, our clinical laboratory performed approximately 108.447 emergency tests and the number of critical values detected were 1.276 (1.2%). The parameter with the highest percentage of all critical values was hemoglobin (32%), followed by potassium ion (31%), glucose (13%), sodium ion (12%), chlorine ion (6%), calcium (II) (4%), phosphorus (1%) and magnesium (II) (1%). Although these data demonstrate that the protocol is working, it is necessary to optimize the detection of critical values.
Even though multifunctionality concept is reflected, implicit or explicitly, in the design of actual agrarian policies, its consideration when analysing and assessing farming systems is relatively ...limited in the scientific literature. Analytic Hierarchy Process (AHP) is proposed with this aim. AHP is a multicriteria discrete decision support technique that is used in complex decision making. This methodology is stated jointly with a proposed procedure to measure relative agreement among decision makers and uniformity of alternatives’ performances in group decision making. Finally AHP is implemented in the assessment of organic, integrated and conventional olive groves in Andalusia considering criteria of a different nature – economic, technical, sociocultural and environmental –. The final purpose is determining the more interesting growing techniques from a holistic point of view for all the society in the medium/long-term on the basis of knowledge of experts on olive.
The present research was designed to evaluate the adaptive responses to oxidative stress and inflammation in handball players subjected to well-controlled training intervals over one-year of ...competition. Seven blood samples were collected over the season of the study, approximately one a month. Plasma lipid peroxidation, nitrite, cytokines (IL-1β, IL-6, INFγ and TNFα), and the glutathione cycle in erythrocytes, were measured. Exercise intensity, measured with the Borg's scale, increased significantly up to the middle of the competition season, coinciding with maximal creatine kinase and lactate dehydrogenase values, and then decreased at the end of the study. The inflammatory markers including nitrite, IL-1β, IL-6, and, to a lesser extent INFγ, increased early in the training season, and remained elevated until the end of the study. TNFα, however, remained low during the season. The oxidative stress response included a transient increase of the glutathione disulphide/glutathione ratio and glutathione reductase activity at the beginning of the study, returning to basal values somewhat later. Glutathione peroxidase also increased at the end of the training season, and lipid peroxidation levels remained low during the athletic season. These results suggest that well-trained athletes were best adapted to the oxidative response, although the beneficial effects of some of the inflammatory cytokines on skeletal muscle myogenesis and repair cannot be ruled out.
Cycling competitions represent an important physical overload even for well-trained individuals. In six professional cyclists, we studied the adaptive oxidative and anti-inflammatory response to a ...4-day road cycling competition and its relationship with melatonin, an antioxidant and anti-inflammatory stress hormone. Blood and urine samples were collected before and after the competition. Plasma lipid peroxidation, cytokines (interleukin-1β, interleukin-6, and tumour necrosis factor-α), creatine kinase and other metabolic markers, melatonin, erythrocyte glutathione, and glutathione peroxidase and reductase activities were measured. Urinary excretion of 6-sulphatoxymelatonin was analysed. Lipid peroxidation increased after the competition, but the erythrocyte glutathione pool remained unchanged. Changes in both glutathione peroxidase and reductase activities probably account for the recycling of glutathione after exercise. Interleukin-6 (216%) and tumour necrosis factor-α (159%) but not interleukin-1β increased after exercise. A parallel increase in plasma melatonin concentrations was detected, whereas metabolic markers, including creatine kinase, showed minor modifications. Thus, professional cyclists display an adaptative response to the physical overloads in the competitions for which they are trained. Consequently, they seem to be able to regulate efficiently the intracellular oxidative stress, and prevent an exaggerated pro-inflammatory cytokines induction. A modulator role of melatonin in these adaptive responses is also supported.
In this article, relevant mechanisms that have conditioned the diffusion/adoption process of organic farming (OF) in the main organic olive-growing zones of Andalusia, the world's leading ...olive-producing region located in the south of Spain, have been analyzed mainly within the framework of the Rogers' diffusion of innovations theory. Results point out that the current diffusion model has been exhausted and, therefore, should be revised, if this form of sustainable agriculture is to spread any further. After the first stage of official promotion of organic techniques in a concrete zone of Andalusia, an important intra-regional “contagion” among farmers has been detected, whereas external to the agricultural systems influences- administration, scientists, extensionists, and so on-seem not be very important up to the present time. The more determined involvement of these agents in the development and promotion of OF would supplement and reinforce the underlying mechanisms of diffusion and would probably strengthen the spreading of OF in the near future. When new policies are being drawn up in this sector, it is crucial to bear in mind that the process of diffusion/adoption of OF in the olive groves of Andalusia has many characteristics in common with other innovations but also many peculiarities. Moreover, the moment of adoption of OF, in general, is fundamentally related to the region the farms and farmers belong to and to a lesser degree to the characteristics of the farmers and farms. In this sense, early adopters have similar socioeconomic characteristics to late adopters. However, some differences between early and late adopters have been detected: the first ones have less risk aversion, have more contact with informal sources of information, have a more favorable opinion about organic agriculture and, curiously enough, are more dependent and with less experience on agriculture. One important peculiarity of OF is related to its environmental nature: especially for early adopters, the possible economic advantages and risks of OF are not as important for them as other “externalities” associated with OF, such as respecting the environment and obtaining healthy products. Another specificity is the special characteristics of the olive-growing social systems: organic agriculture has spread most up to now in the most marginal and underprivileged zones, with older individuals as potential adopters who have limited contact with traditional sources of information, are fairly uncosmopolitan and have little education, are more motivated by environmental than economic reasons, and comparedwith the farmers of the other zones aremore guided by their own practical experience and contact with informal information networks.
PDF
