Academic literature on the topic 'Dried milk spot'

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Journal articles on the topic "Dried milk spot"

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Rudolph, Michael C., Bridget E. Young, Kristina Harris Jackson, Nancy F. Krebs, William S. Harris, and Paul S. MacLean. "Human Milk Fatty Acid Composition: Comparison of Novel Dried Milk Spot Versus Standard Liquid Extraction Methods." Journal of Mammary Gland Biology and Neoplasia 21, no. 3-4 (October 28, 2016): 131–38. http://dx.doi.org/10.1007/s10911-016-9365-4.

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Gao, Chang, Ge Liu, Andrew J. McPhee, Jaqueline Miller, and Robert A. Gibson. "A simple system for measuring the level of free fatty acids in human milk collected as dried milk spot." Prostaglandins, Leukotrienes and Essential Fatty Acids 158 (July 2020): 102035. http://dx.doi.org/10.1016/j.plefa.2019.102035.

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GAO, Chang, Robert A. Gibson, Andrew J. Mcphee, Shao J. Zhou, Carmel T. Collins, Maria Makrides, Jacqueline Miller, and Ge Liu. "Comparison of breast milk fatty acid composition from mothers of premature infants of three countries using novel dried milk spot technology." Prostaglandins, Leukotrienes and Essential Fatty Acids 139 (December 2018): 3–8. http://dx.doi.org/10.1016/j.plefa.2018.08.003.

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Winter, Theresa, Anja Lange, Anke Hannemann, Matthias Nauck, and Cornelia Müller. "Contamination of dried blood spots – an underestimated risk in newborn screening." Clinical Chemistry and Laboratory Medicine (CCLM) 56, no. 2 (January 26, 2018): 278–84. http://dx.doi.org/10.1515/cclm-2017-0270.

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Abstract Background: Newborn screening (NBS) is an established screening procedure in many countries worldwide, aiming at the early detection of inborn errors of metabolism. For decades, dried blood spots have been the standard specimen for NBS. The procedure of blood collection is well described and standardized and includes many critical pre-analytical steps. We examined the impact of contamination of some anticipated common substances on NBS results obtained from dry spot samples. This possible pre-analytical source of uncertainty has been poorly examined in the past. Methods: Capillary blood was obtained from 15 adult volunteers and applied to 10 screening filter papers per volunteer. Nine filter papers were contaminated without visible trace. The contaminants were baby diaper rash cream, baby wet wipes, disinfectant, liquid infant formula, liquid infant formula hypoallergenic (HA), ultrasonic gel, breast milk, feces, and urine. The differences between control and contaminated samples were evaluated for 45 NBS quantities. We estimated if the contaminations might lead to false-positive NBS results. Results: Eight of nine investigated contaminants significantly altered NBS analyte concentrations and potentially caused false-positive screening outcomes. A contamination with feces was most influential, affecting 24 of 45 tested analytes followed by liquid infant formula (HA) and urine, affecting 19 and 13 of 45 analytes, respectively. Conclusions: A contamination of filter paper samples can have a substantial effect on the NBS results. Our results underline the importance of good pre-analytical training to make the staff aware of the threat and ensure reliable screening results.
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Laurens, Mara L. Leimanis, Chana Kraus-Friedberg, Wreeti Kar, Dominic Sanfilippo, Surender Rajasekaran, and Sarah S. Comstock. "Dietary Intake Influences Metabolites in Healthy Infants: A Scoping Review." Nutrients 12, no. 7 (July 13, 2020): 2073. http://dx.doi.org/10.3390/nu12072073.

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Metabolites are generated from exogenous sources such as diet. This scoping review will summarize nascent metabolite literature and discriminating metabolites for formula vs. human- milk-fed infants. Using the PICOS framework (P—Patient, Problem or Population; I—Intervention; C—Comparison; O—Outcome; S—Study Design) and PRISMA item-reporting protocols, infants less than 12 months old, full-term, and previously healthy were included. Protocol was registered with Open Science Framework (OSF). Publications from 1 January 2009–2019 were selected, for various biofluids, study designs, and techniques (such as high-performance liquid chromatography (HPLC)). From 711 articles, blinded screening of 214 articles using Abstrackr® software, resulted in 24 for final review. Strengthening the Reporting of Observational studies in Epidemiology (STROBE) guidelines were adopted, which included a 24-point checklist. Articles were stratified according to biofluid. Of articles reporting discriminating metabolites between formula- and human milk-fed infants, 62.5% (5/8) of plasma/serum/dried blood spot, 88% (7/8) of urine and 100% (6/6) of feces related articles reported such discriminating metabolites. Overall, no differences were found between analytical approach used (targeted (n = 9) vs. un-targeted (n = 10)). Current articles are limited by small sample sizes and differing methodological approaches. Of the metabolites reviewed herein, fecal metabolites provided the greatest distinction between diets, which may be indicative of usefulness for future diet metabolite-focused work.
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Buchinskaya, Natalia V., Mikhail M. Kostik, Oksana L. Kolobova, and Larisa N. Melnikova. "How Not to Miss the Mild Forms of Mucopolysaccharidosis Type I in Patients With Articular Manifestations of the Disease?" Current pediatrics 17, no. 6 (January 31, 2019): 473–79. http://dx.doi.org/10.15690/vsp.v17i6.1978.

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Mucopolysaccharidosis type I (MPS I) is a hereditary metabolic disease that manifests itself in childhood by systemic damage to tissues and organs, a constantly progressive course leading to disability. Diagnosis of mild forms of the disease is particularly difficult due to the absence of specific symptoms. A specific symptom of the mild forms of MPS I (as for other types of MPS) is joint stiffness in children combined with hernia, frequent infections, or valvular defects. Stiffness in MPS I is often interpreted as a manifestation of rheumatological diseases (arthrogriposis, juvenile idiopathic arthritis). The article offers a simple algorithm for diagnosing MPS I, which helps to eliminate the disease using a simple test for determining the activity of an enzyme called alpha-L-iduronidase in a dried blood spot.
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Lipiński, Patryk, Piotr Stawiński, Małgorzata Rydzanicz, Maria Wypchło, Rafał Płoski, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, et al. "Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants." Journal of Applied Genetics 61, no. 1 (October 18, 2019): 87–91. http://dx.doi.org/10.1007/s13353-019-00523-w.

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Abstract Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenting patients and a mild phenotype complicates and delays the diagnostic process. Here, we report a case of mild ZSD, due to novel PEX1 variants. The patient presented with an early hearing loss, bilateral cataracts, and leukodystrophy on magnetic resonance (MR) images. Normal results of serum very-long-chain fatty acids (VLCFA) and phytanic acid were found. Molecular diagnostics were performed to uncover the etiology of the clinical phenotype. Using whole exome sequencing, there have been found two variants in the PEX1 gene—c.3450T>A (p.Cys1150*) and c.1769T>C (p.Leu590Pro). VLCFA measurement in skin fibroblasts and C26:0-lysoPC in dried blood spot therefore was performed. Both results were in line with the diagnosis of ZSD. To conclude, normal results of routine serum VLCFA and branched-chain fatty acid measurement do not exclude mild forms of ZSD. The investigation of C26:0-lysoPC should be included in the diagnostic work-up in patients with cataract, hearing loss, and leukodystrophy on MR images suspected to suffer from ZSD.
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Cedeño, L., and C. Carrero. "First Report of Tomato Gray Leaf Spot Caused by Stemphylium solani in the Andes Region of Venezuela." Plant Disease 81, no. 11 (November 1997): 1332. http://dx.doi.org/10.1094/pdis.1997.81.11.1332b.

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Since 1994, tomato (Lycopersicon esculentum Mill.) grown in Mérida State, located in the Venezuelan Andes, have been consistently affected by a gray leaf spot disease with symptoms on leaves, petioles, and stems. Yield is reduced, and in some cases entire crops have been destroyed over short time. Because of its prevalence, distribution, and severity, the disease has become the major factor limiting tomato production in this region. Disease symptoms were commonly observed on seedlings and plants. On leaves the disease first appeared as circular to elongated dark specks. As the spots enlarged, they became gray and bright. Old lesions dried and usually cracked. Severely infected leaves turned yellow and then died and dropped. Lesions on petioles and stems were elongate. Disease severity was generally higher following the beginning of fruiting. The fungus was isolated from leaves, petioles, and stems of tomato cv. Rio Grande on 2% water agar acidified with lactic acid. On potato-carrot agar, conidiophores and conidia were produced with the characteristics of Stemphylium. Two species of Stemphylium, S. solani G. F. Weber and S. lycopersici (Enjoji) W. Yamamoto, cause gray leaf spot symptoms on tomato. Based on morphology, size, and the length/width ratio of the conidia, the fungus was identified as S. solani (1). Inoculations done by spraying a conidial suspension on plants of tomato cv. Rio Grande produced symptoms similar to those observed in the field. S. solani was consistently isolated from experimentally infected tissues, thus confirming Koch's postulates. This is the first report of S. solani causing gray leaf spot on tomato grown in the Andes of Venezuela. Reference: (1) G. F. Weber. Phytopathology 20:513, 1930.
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Hurvitz, Noa, Tama Dinur, Michal Becker-Cohen, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann, Laura Demuth, et al. "Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease." International Journal of Molecular Sciences 20, no. 12 (June 21, 2019): 3033. http://dx.doi.org/10.3390/ijms20123033.

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The role of glucosylsphingosine (lyso-Gb1), a downstream metabolic product of glucosylceramide, for monitoring treated and untreated children with Gaucher disease (GD) has not yet been studied. We reviewed the clinical charts of 81 children (<18 years), 35 with mild type 1 GD (GD1), 34 with severe GD1 and 12 with type 3 GD (GD3), followed at Shaare Zedek Medical Center between 2014–2018. Disease severity for GD1 was based on genotypes. Forty children (87%) with severe GD1 and GD3 received enzyme replacement therapy (ERT) compared to two children (6%) with mild GD1. Lyso-Gb1 measurements were conducted on dried blood spot samples taken at each clinic visit. Lyso-Gb1 levels were significantly lower in children with mild compared to severe GD1 (p = 0.009). In untreated children, lyso-Gb1 levels were inversely correlated with platelet counts. During follow-up, lyso-Gb1 increased in almost 50% of untreated children, more commonly in younger children. In treated children, lyso-Gb1 levels were inversely correlated with hemoglobin levels. The increase of lyso-Gb1 while receiving ERT, seen in eight children, was partly associated with compliance and weight gain. Lyso-Gb1 seems to be a useful biomarker for monitoring children with GD and should be included in the routine follow-up. Progressive increase in lyso-Gb1 levels in untreated children suggests ERT initiation.
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Dinur, Tama, Peter Bauer, Christian Beetz, Guido Kramp, Claudia Cozma, Marius-Ionuț Iurașcu, Michal Becker-Cohen, et al. "Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?" International Journal of Molecular Sciences 23, no. 3 (January 30, 2022): 1627. http://dx.doi.org/10.3390/ijms23031627.

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For years, the gold standard for diagnosing Gaucher disease (GD) has been detecting reduced β-glucocerebrosidase (GCase) activity in peripheral blood cells combined with GBA1 mutation analysis. The use of dried blood spot (DBS) specimens offers many advantages, including easy collection, the need for a small amount of blood, and simpler transportation. However, DBS has limitations for measuring GCase activity. In this paper, we recount our cross-sectional study and publish seven years of experience using DBS samples and levels of the deacylated form of glucocerebroside, glucosylsphingosine (lyso-Gb1), for GD diagnosis. Of 444 screened subjects, 99 (22.3%) were diagnosed with GD at a median (range) age of 21 (1–78) years. Lyso-Gb levels for genetically confirmed GD patients vs. subjects negative to GD diagnosis were 252 (9–1340) ng/mL and 5.4 (1.5–16) ng/mL, respectively. Patients diagnosed with GD1 and mild GBA1 variants had lower median (range) lyso-Gb1, 194 (9–1050), compared to GD1 and severe GBA1 variants, 447 (38–1340) ng/mL, and neuronopathic GD, 325 (116–1270) ng/mL (p = 0.001). Subjects with heterozygous GBA1 variants (carrier) had higher lyso-Gb1 levels, 5.8 (2.5–15.3) ng/mL, compared to wild-type GBA1, 4.9 (1.5–16), ng/mL (p = 0.001). Lyso-Gb1 levels, median (range), were 5 (2.7–10.7) in heterozygous GBA1 carriers with Parkinson’s disease (PD), similar to lyso-Gb1 levels in subjects without PD. We call for a paradigm change for the diagnosis of GD based on lyso-Gb1 measurements and confirmatory GBA1 mutation analyses in DBS. Lyso-Gb1 levels could not be used to differentiate between heterozygous GBA1 carriers and wild type.
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Dissertations / Theses on the topic "Dried milk spot"

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Gao, Chang. "Developing dried milk spot based micro-sampling methods to assess changes to the fat composition of human milk during handling and processing." Thesis, 2020. http://hdl.handle.net/2440/130077.

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Human milk (mother’s own milk and pasteurised donor human milk) is the food-of-choice of all infants, especially those born sick and/or prematurely. Premature infants might have to rely on nasogastric tube feeding of expressed and stored human milk rather than being fed directly on the breast before their suckling reflux matures. There has been increasing concern regarding whether the integrity of human milk is preserved after all the necessary storage, handling and processing steps involved in pasteurizing and delivering the milk to infants. Human milk fats are particularly of a concern as more than half of the energy of human milk is derived from milk fats. The endogenous lipases of human milk could breakdown the main fat type triglycerides (TG) and release free fatty acids (FFA), under various conditions. The main goal of the thesis was to develop micro-sampling based dried milk spot (DMS) methods to measure the fat composition of human milk. Compared to the conventional liquid milk analysis, collecting human milk as DMS reduces the volume required for analysis, requires only ambient temperature storage and transportation, and simplifies the analytical procedures. I first adapted the established dried blood technique for profiling the total fatty acid composition of human milk, using 200 milk samples of mothers from three different countries. The strong correlation and tight variation between human milk samples analysed using the conventional method and the DMS method gave me the confidence to move forward with DMS technique. The major challenges involved in the process was to develop a DMS method for measuring FFA concentration of human milk, due to the instability of milk fats and the difficulty in separating FFA from TG. I tested several strategies and was able to reduce the contamination from TG to a very low level of 2%, which however was unacceptable as this could result in a falsely inflate the reading of FFA. I then discovered that milk fats collected as DMS are susceptible to lipolysis due to breast milk lipases. Various attempts were made to inactivate the lipases. The final working system involved collecting human milk on silica gel impregnated paper, followed by microwaving to denature lipases. Milk fats can then be eluted and analysed by gas chromatography using an acid modified column that specifically detects FFA even in the presence of other fats (e.g. TG). The level of FFA measured by the DMS and conventional thin layer chromatography method were highly correlated (r=0.983, P<0.0001). To test the applicability and sensitivity of my DMS method, I then analysed 256 human milk samples collected in neonatal nursery at Women’s and Children’s Hospital, from a cohort of 32 mothers who delivered mostly preterm infants. In conclusion, this thesis is the first report of a DMS technique for reliably measuring the FFA concentration of human milk. This DMS technique can be adapted by human milk banks for monitoring the quality of milk fats throughout processing procedures, it also has the potential to be adapted for measurement of FFA in other biological fluids.
Thesis (Ph.D.) -- University of Adelaide, School of Agriculture, Food and Wine, 2020
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