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1
MILLER, R. G., C. R. TATE, and E. T. MALLINSON. "Improved XLT4 Agar: Small Addition of Peptone to Promote Stronger Production of Hydrogen-Sulfide by Salmonellae." Journal of Food Protection 58, no. 1 (January 1, 1995): 115–19. http://dx.doi.org/10.4315/0362-028x-58.1.115.
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Xylose lysine tergitol4 agar (XLT4) is a highly selective plating medium used for isolating salmonellae. Studies have shown that XLT4 increases the recovery of salmonellae found in food, environmental and clinical samples. Further testing demonstrated that the addition of low concentrations of proteose peptone No. 3 (pp3) to XLT4 produced blacker Salmonella colonies in shorter incubation times (increased hydrogen sulfide production), while still maintaining strong inhibition of competing bacteria. The increased black colony formation facilitates prompt recognition of the weaker hydrogen sulfide-producing Salmonella strains. Test concentrations of pp3 at 0.5, 1.2 and 1.8 g/L were added to XLT4 and compared with plain XLT4 using pure bacterial cultures. In addition, these four plating media, plus xylose lysine desoxycholate agar (XLD) were evaluated using nonspiked chicken liver and pork sausage samples. The concentration of 1.2 g/L of pp3 in XLT4 gave the best overall results. In virtually all cases, the Salmonella colonies were larger and more black than on plain XLT4 without pp3. The improved XLT4 is recommended for more reliable detection of salmonellae from food, environmental and clinical samples.
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MILLER, R. G., C. R. TATE, and E. T. MALLINSON. "Improved XLT4 Agar: Small Addition of Peptone to Promote Stronger Production of Hydrogen-Sulfide by Salmonellae." Journal of Food Protection 57, no. 10 (October 1, 1994): 854–58. http://dx.doi.org/10.4315/0362-028x-57.10.854.
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Xylose lysine tergitol4 agar (XLT4) is a highly selective plating medium used for isolating salmonellae. Studies have shown that XLT4 increases the recovery of salmonellae found in food, environmental and clinical samples. Further testing demonstrated that the addition of low concentrations of proteose peptone No. 3 (pp3) to XLT4 produced blacker Salmonella colonies in shorter incubation times (increased hydrogen sulfide production), while still maintaining strong inhibition of competing bacteria. The increased black colony formation facilitates prompt recognition of the weaker hydrogen sulfide-producing Salmonella strains. Test concentrations of pp3 at 0.5, 1.2 and 1.8 g/L were added to XLT4 and compared with plain XLT4 using pure bacterial cultures. In addition, these four plating media, plus xylose lysine desoxycholate agar (XLD) were evaluated using nonspiked chicken liver and pork sausage samples. The concentration of 1.2 g/L of pp3 in XLT4 gave the best overall results. In virtually all cases, the Salmonella colonies were larger and more black than on plain XLT4 without pp3. The improved XLT4 is recommended for more reliable detection of salmonellae from food, environmental and clinical samples.
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CHAMPAGNE, MARIE-JOSÉE, ANDRÉ RAVEL, and DANIELLE DAIGNAULT. "A Comparison of Sample Weight and Culture Methods for the Detection of Salmonella in Pig Feces." Journal of Food Protection 68, no. 5 (May 1, 2005): 1073–76. http://dx.doi.org/10.4315/0362-028x-68.5.1073.
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Five protocols were compared to determine the combined effects of different sample weights and culture methods for the recovery of Salmonella from 310 pig cecal samples taken in abattoirs as part of the Canadian Integrated Program for Antimicrobial Resistance Surveillance. Sample weights evaluated were 1 and 10 g. Culture methods used with each sample weight were modified semisolid Rappaport-Vassiliadis agar (MSRV) and brilliant green agar with sulfa and novobiocin (BGSN) and xylose-lysine-tergitol-4 agar (XLT4). A preliminary sample preparation step in saline was also evaluated using a 10-g sample and MSRV. The Salmonella recovery rate varied from 20% for the saline MSRV 10-g protocol to 32% for the MSRV 10-g and the BGSN-XLT4 10-g protocols. A good agreement (κ > 0.8) was observed between pairs of protocols except whenever the saline MSRV 10-g and the MSRV 1-g protocols were compared. Larger samples (10 g) yielded higher detection of Salmonella than 1-g samples for the MSRV protocol (32 versus 25%), whereas the differences were not statistically significant for the BGSN-XLT4 protocols. Protocols using the BGSN-XLT4 agar yielded higher detection rates of Salmonella compared with MSRV with 1-g samples (30 versus 25%), whereas it was equivalent with 10-g samples. Considering a greater recovery rate, the ease of use, and a better time and resource efficiency, the MSRV 10-g protocol was therefore adopted by the Canadian Integrated Program for Antimicrobial Resistance Surveillance.
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CARLI, K. TAYFUN, AYSEGUL EYIGOR, and VILDAN CANER. "Prevalence of Salmonella Serovars in Chickens in Turkey." Journal of Food Protection 64, no. 11 (November 1, 2001): 1832–35. http://dx.doi.org/10.4315/0362-028x-64.11.1832.
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In this study, 151 (18.6%) of 814 ceca obtained during in-line processing of 28 broiler (Hybro G, Avian, Arbor acres, and Cobb breeds) and 5 layer (Ross, Tetra SL, Isa Brown, and Brown Nick breeds) flocks in Turkey were found to be contaminated with four different Salmonella serovars. Only Salmonella enterica subsp. enterica Serovar Enteritidis (Salmonella Enteritidis) was recovered from layer birds, whereas Salmonella Enteritidis (81.5%), Salmonella Agona (7.6%), Salmonella Thompson (10.1%), and Salmonella Sarajane (0.8%) were isolated from broiler birds. Isolations of Salmonella Agona and Salmonella Thompson from poultry are reported for the first time in Turkey. The isolation of Salmonella Sarajane from chickens is the first report in the world. The standard method of National Poultry Improvement Plan, U.S. Department of Agriculture, was used to detect Salmonella from chicken cecal samples. Primary and delayed secondary enrichments (PE and DSE) were done in tetrathionate-Hajna broth (TTHB). Two different agar media, xylose lysine tergitol 4 (XLT4) and brilliant green with novobiocin (BGN) were used to observe, and compared for their isolation and selective differentiation of, Salmonella-suspected colonies. Isolated salmonellae were then biotyped and serotyped. Ninety-one and 151 salmonellae were isolated with XLT4 agar after PE and DSE, respectively. From the same samples, BGN agar was able to detect only 50 and 131 Salmonella after PE and DSE, respectively. The isolation rate with XLT4 was 11.2% (P < 0.01) with PE, and this rate increased to 18.6% after DSE. Also, the PE isolation rate (11.2%) with XLT4 agar was significantly higher (P < 0.01) than PE with BGN agar (6.1%). Salmonella was isolated from 39.3% (11 of 28) of the broiler flocks and from 60.0% (3 of 5) of the layers. The detection sensitivity of the isolation method was determined as 1 CFU g−1 experimentally. These data demonstrate the presence of Salmonella Enteritidis, Salmonella Thompson, Salmonella Agona, and Salmonella Sarajane in chicken flocks in Turkey.
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DiPERSIO, PATRICIA A., PATRICIA A. KENDALL, MEHMET CALICIOGLU, and JOHN N. SOFOS. "Inactivation of Salmonella during Drying and Storage of Apple Slices Treated with Acidic or Sodium Metabisulfite Solutions." Journal of Food Protection 66, no. 12 (December 1, 2003): 2245–51. http://dx.doi.org/10.4315/0362-028x-66.12.2245.
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This study was undertaken to determine whether pretreating inoculated Gala apple slices with metabisulfite or acidic solutions enhanced the inactivation of Salmonella during dehydration and storage. Apple slices inoculated with a five-strain mixture of Salmonella (7.6 log CFU/g) were pretreated, dried for 6 h at 60°C, and stored aerobically at 25°C for 28 days. Predrying treatments included (i) no treatment, (ii) 10 min of immersion in sterile water, (iii) 10 min of immersion in a 4.18% sodium metabisulfite solution, (iv) 10 min of immersion in a 3.40% ascorbic acid solution, and (v) 10 min of immersion in a 0.21% citric acid solution. Samples were plated on tryptic soy agar with 0.1% pyruvate (TSAP), brilliant green sulfa (BGS) agar, and xylose lysine tergitol 4 (XLT4) agar for the enumeration of bacteria. Populations were not significantly (P > 0.05) reduced by immersion in water but were reduced by 0.7 to 1.1 log CFU/g by immersion in acidic solutions. Immersion in the sodium metabisulfite solution reduced populations by 0.4, 1.3, and 5.4 log CFU/g on TSAP, BGS agar, and XLT4 agar, respectively. After 6 h of dehydration at 60°C, populations on untreated and water-treated slices were reduced by 2.7 to 2.8, 2.7 to 2.9, and 4.0 to 4.2 log CFU/g as determined with TSAP, BGS agar, and XLT4 agar, respectively. In contrast, populations on slices treated with sodium metabisulfite, ascorbic acid, and citric acid were reduced after 6 h of dehydration by 4.3, 5.2, and 3.8 log CFU/g, respectively, as determined with TSAP; by 4.7, 5.5, and 3.9 log CFU/g, respectively, as determined with BGS agar; and by 5.5, 5.7, and 5.6 log CFU/g, respectively, as determined with XLT4 agar. Bacteria were still detectable by direct plating after 28 days except on slices treated with ascorbic acid. Immersion in metabisulfite or acidic solutions prior to dehydration should enhance the inactivation of Salmonella during the dehydration and storage of Gala apple slices.
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Borsoi, Anderlise, Hamilton Luis de Souza Moraes, Carlos Tadeu Pippi Salle, and Vladimir Pinheiro do Nascimento. "Número mais provável de Salmonella isoladas de carcaças de frango resfriadas." Ciência Rural 40, no. 11 (November 2010): 2338–42. http://dx.doi.org/10.1590/s0103-84782010001100014.
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A Salmonella permanece um importante problema na avicultura e, considerando os patógenos transmitidos por alimentos, aparece como um dos agentes principais em surtos de toxinfecções alimentares. Para auxiliar na avaliação de riscos em adquirir infecção alimentar via carne de frangos que sofreram cocção inadequada, ou através de contaminação cruzada a partir desses animais, torna-se importante determinar a extensão de contaminação por patógenos em carne crua. No presente trabalho, foram analisadas 180 carcaças de frangos resfriadas, adquiridas em varejos, para pesquisa de Salmonella com determinação do número de células da bactéria. Foi utilizado o método do número mais provável (NMP) nos ágares para isolamento verde brilhante com novobiocina (BGN) e xilose-lisina tergitol 4 (XLT4). Os resultados mostraram 12,2% de ocorrência de Salmonella nas carcaças de frangos resfriadas e a média de NMP de Salmonella por mL, na leitura pelo ágar XLT4 foi de 2,7 células e no ágar BGN foi de 1,3 células. Os sorovares de Salmonella isolados das carcaças de frangos no estudo foram S. Enteritidis, S. Agona, S.Rissen, S. Heidelberg e S. Livingstone. A análise dos resultados demonstrou existir um número variável de células de Salmonella contaminando as carcaças de frango resfriadas que estão à venda ao consumidor.
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KORNACKI, JEFFREY L., JOSHUA B. GURTLER, ZHINONG YAN, and CHAD M. COOPER. "Evaluation of Several Modifications of an Ecometric Technique for Assessment of Media Performance." Journal of Food Protection 66, no. 9 (September 1, 2003): 1727–32. http://dx.doi.org/10.4315/0362-028x-66.9.1727.
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Recovery of Listeria monocytogenes 101M, Jonesia denitrificans, salmonellae, and Pediococcus sp. NRRL B-2354 across nine media was evaluated with three modified versions of an ecometric method. Two approaches involved the use of broth cultures (108 to 109 CFU/ml) of individual strains and either large (10-μl) or small (1-μl) presterilized plastic loops. The third approach involved precultured slants and the inoculation of media with presterilized plastic inoculating needles (104 CFU per needle). Absolute growth indices (AGIs) were compared. No significant differences (P < 0.05) between methods were found when tryptic soy agar supplemented with 0.6% yeast extract (TSAYE) was used for the recovery of L. monocytogenes, J. denitrificans, Pediococcus sp. NRRL B-2354, and Salmonella spp. However, the small loop–broth technique recovered significantly fewer Salmonella enterica Typhimurium DT104 and Salmonella Senftenberg 775W cells than the other two techniques did. The performance of each individual bacterial strain on each of nine media was assayed. The recovery of L. monocytogenes was excellent (AGI > 4.8) with TSAYE, PALCAM, modified Oxford medium (MOX), and Baird-Parker agar and slight with modified PRAB (AGI = 0.4) and deMan Rogosa Sharpe (MRS) agar (<0.1), and the organism was not recovered with the remaining media (modified lysine iron agar [MLIA], xylose lysine desoxycholate [XLD] agar, and xylose lysine tergitol 4 [XLT4] agar). The recovery of J. denitrificans with TSAYE and MOX was excellent, significantly better than that achieved with PALCAM (AGI = 3.0), but the organism was not recovered with Baird-Parker agar or with the other media tested. The recovery of Pediococcus sp. NRRL B-2354 was excellent with TSAYE and modified PRAB medium > Baird-Parker agar > acidified MRS agar, but the organism was not recovered with any of the other media tested. The best recovery of S. enterica Typhimurium DT104 was achieved with TSAYE > MLIA ≥ XLD agar ≥ XLT4 agar > Baird-Parker > PALCAM, MOX, acidified MRS agar, modified PRAB, and MRS agar. The best recovery of Salmonella Senftenberg 775W was achieved with TSAYE, MLIA, and XLD agar > XLT4 agar, but the organism was not recovered with the other media evaluated.
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Bautista, D. A., S. Elankumaran, J. A. Arking, and R. A. Heckert. "Evaluation of an Immunochromatography Strip Assay for the Detection of Salmonella Sp. from Poultry." Journal of Veterinary Diagnostic Investigation 14, no. 5 (September 2002): 427–30. http://dx.doi.org/10.1177/104063870201400514.
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The present study was conducted to evaluate the sensitivity and specificity of an immunochromatography-based diagnostic kit for Salmonella. The analytical sensitivity of the test when using pure colonies of different Salmonella species was in the range of 1 × 104 to 1 × 105 colony-forming units per milliliter. The strip detected 19 of 22 strains of Salmonella spp. but failed to detect S. worthington, S. choleraesuis var kunzendorf, and S. johannesburg. The strip did not detect 27 different enteric bacteria, including Escherichia coli O157:H7, Campylobacter jejuni, Shigella sonnei, and Vibrio parahaemolyticus. In direct testing of feces ( n = 66) from chickens infected with Salmonella typhimurium, the strip had a sensitivity of 12.3% and a specificity of 100%. Evaluation of the strip assay ( n = 510) after sample pre-enrichment in 2% buffered peptone water (BPW) yielded a sensitivity of 93.8% and specificity of 89% when compared to isolation and identification with xylose-lysine-tergitol 4 (XLT4) selective plating media. Subsequent enrichment in Hajna tetrathionate (TT) broth yielded a higher sensitivity (94.7%) and specificity (96.8%). The agreement (kappa) between the strip test and isolation was 0.004 in direct fecal testing, 0.82 in BPW, and 0.89 in TT broth. The assay could detect Salmonella sp. as early as 18–48 hours during pre-enrichment and enrichment compared to isolation on XLT4, which required an overnight incubation step for the presumptive isolation and identification of Salmonella.
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MITAL, SUBODH K. "Quantifying Uncertainties in the Thermo-Mechanical Properties of Particulate Reinforced Composites." Journal of Reinforced Plastics and Composites 19, no. 8 (January 1, 2000): 657–78. http://dx.doi.org/10.1106/u001-xlt4-1d60-77mq.
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ZHANG, LEI, ZHINONG YAN, and ELLIOT T. RYSER. "Comparison of the Reveal Test, the U.S. Food and Drug Administration Culture Method, and Selective Media for Recovery of Salmonella Enteritidis from Commercial Egg Layer Flock Environments." Journal of Food Protection 69, no. 11 (November 1, 2006): 2766–69. http://dx.doi.org/10.4315/0362-028x-69.11.2766.
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Salmonella is the leading cause of foodborne illnesses in the United States, and Salmonella Enteritidis (SE) is the second most frequently isolated Salmonella serovar. Egg products are most often associated with outbreaks of SE infection. To prevent SE contamination of eggs, many producers are implementing flock inspections for SE at their facilities. A rapid and simple method for detecting SE in poultry environmental samples is critical for effective control of SE. In this study, the Reveal test for SE was compared with the conventional U.S. Food and Drug Administration (FDA) culture method for detecting SE in naturally contaminated environmental samples. The efficacy of two enrichment media, tetrathionate broth (TT) and Rappaport-Vassiliadis medium (RV), and three selective plating media, brilliant green agar with novobiocin (BGN), xylose lysine tergitol 4 agar (XLT4), and bismuth sulfite agar (BS), also were compared for SE isolation. One hundred twenty-eight environmental drag swab samples were collected from two previously identified SE-positive chicken flocks in two U.S. states and analyzed in parallel using the Reveal test and the FDA culture method. Twenty-five samples (19.5%) yielded SE when the Reveal test was used, and 23 samples (18.0%) were positive for SE by the FDA culture method. No significant difference in efficacy (P = 0.527) was found between the two methods. The Reveal test had a sensitivity, specificity, and accuracy of 83, 94, and 92%, respectively. Overall, a significantly greater number of positive samples was obtained after enrichment in RV compared with TT. XLT4 and BGN were more efficient than BS for isolating SE. However, no single method or medium successfully recovered SE from all SE-positive environmental samples.
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Lévano Muñante, Gisella del Carmen, and Carmen López Flores. "Evaluación de la presencia de Salmonella de Huevos Frescos, utilizando el medio Xilosa-Lisina-Tergitol 4 (XLT4)." Ciencia e Investigación 4, no. 1 (June 18, 2001): 50–56. http://dx.doi.org/10.15381/ci.v4i1.3394.
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Se evaluó la presencia de Salmonella en 680 huevos frescos de gallina, provenientes de 4 granjas de Lima y 4 de Chincha y de los mercados de Ate-Vitarte, Surco y Villa El Salvador, se evaluó la cáscara y la parte interna del huevo, se comprobó la selectividad del agar Xilosa-Lisina-Tergitol4 (XLT4) en la recuperación y el aislamiento de especies del género Salmonella, con una significancia estadística p < 0,01, frente al agar Hecktoen. En el análisis de los huevos frescos de gallina no se encontró Salmonella ente rica serovar. Enteritidis, sin embargo se obtuvo Salmonella entérica serovar. Djugu y Salmonella entérica serovar. Mbandaka.
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SEO, K. H., B. W. MITCHELL, P. S. HOLT, and R. K. GAST. "Bactericidal Effects of Negative Air Ions on Airborne and Surface Salmonella Enteritidis from an Artificially Generated Aerosol." Journal of Food Protection 64, no. 1 (January 1, 2001): 113–16. http://dx.doi.org/10.4315/0362-028x-64.1.113.
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The bactericidal effect of high levels of negative ions was studied using a custom-built electrostatic space charge device. To investigate whether the ion-enriched air exerted a bactericidal effect, an aerosol containing Salmonella Enteritidis (SE) was pumped into a sealed plastic chamber. Plates of XLT4 agar were attached to the walls, top, and bottom of the chamber and exposed to the aerosol for 3 h with and without the ionizer treatment. The plates were then removed from the chamber, incubated at 37°C for 24 h, and colonies were counted. An average of greater than 103 CFU/plate were observed on plates exposed to the aerosol without the ionizer treatment (control) compared with an average of less than 53 CFU/plate on the ionizer-treated plates. In another series of experiments, the SE aerosol was pumped for 3 h into an empty chamber containing only the ionizer and allowed to collect on the internal surfaces. The inside surfaces of the chamber were then rinsed with 100 ml phosphate-buffered saline that was then plated onto XLT4 plates. While the rinse from the control chamber contained colony counts greater than 400 CFU/ml of wash, no colonies were found in the rinse from the ionizer-treatment chamber. These results indicate that high levels of negative air ions can have a significant impact on the airborne microbial load, and that most of this effect is through direct killing of the organisms. This technology, which also causes significant reduction in airborne dust, has already been successfully applied for poultry hatching cabinets and caged layer rooms. Other potential applications include any enclosed space such as food processing areas, medical institutions, the workplace, and the home, where reduction of airborne and surface pathogens is desired.
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BRASHEARS, M. M., A. AMEZQUITA, and J. STRATTON. "Validation of Methods Used To Recover Escherichia coli O157:H7 and Salmonella spp. Subjected to Stress Conditions†." Journal of Food Protection 64, no. 10 (October 1, 2001): 1466–71. http://dx.doi.org/10.4315/0362-028x-64.10.1466.
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Escherichia coli O157:H7, Salmonella spp., and Salmonella Typhimurium DT104 were stressed with lactic acid and cell-free supernatants from lactic acid bacteria and plated on three different media to determine if injured cells were recovered. A comparison of the susceptibility and recovery of antibiotic-resistant strains of the pathogens and nonresistant strains was also made. Acid stress conditions were created by adjusting the pH of a cocktail mixture (two to four strains) of the pathogen to 3.50 with lactic acid and holding for 18 h. The pathogen cocktail was also stressed with a cell-free supernatant of Lactobacillus lactis (pH 3.90) in a 4:6 ratio. Both nonstressed and stressed cocktail cultures were plated on Trypticase soy agar (TSA) and violet red bile agar (VRBA) for E. coli and xylose lysine tergitol4 (XLT4) for Salmonella. Repair of injured cells was evaluated by pour plating the stressed cells on a 5-ml thin layer of TSA and allowing a 2-h room temperature incubation followed by overlaying with VRBA or XLT4. There were significant reductions in the populations of both pathogens under both stress conditions when plating was done on nonselective media. Injured E. coli O157:H7 was not recovered on recovery or selective media compared with TSA. Numbers of cells of supernatant-stressed Salmonella spp. plated on selective and recovery media were similar to those on TSA. Acid-stressed cells for all Salmonella spp. were not recovered on TSA, selective, or recovery media at levels comparable to recovery on TSA. Antibiotic-resistant strains showed similar recovery patterns on all media evaluated. However, the antibiotic-resistant strains were less sensitive to both stress conditions. The use of antibiotic-resistant strains resulted in a greater recovery of stressed pathogens than the use of recovery media.
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VALENTÍN-BON, I. E., R. E. BRACKETT, K. H. SEO, T. S. HAMMACK, and W. H. ANDREWS. "Preenrichment Versus Direct Selective Agar Plating for the Detection of Salmonella Enteritidis in Shell Eggs." Journal of Food Protection 66, no. 9 (September 1, 2003): 1670–74. http://dx.doi.org/10.4315/0362-028x-66.9.1670.
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The relative effectiveness of two methods for the recovery of Salmonella Enteritidis (SE) from jumbo and medium shell eggs was compared. The first method used in the comparison consisted of a preenrichment of the sample, and the second method was developed by the U.S. Department of Agriculture's Animal and Plant Health Inspection Service (APHIS). Three bulk lots of blended, pooled eggs, each containing 220 liquid whole eggs that were thoroughly mixed manually were artificially inoculated with different levels of SE cells between approximately 100 and 103 CFU/ml. Twenty samples containing the contents of approximately 10 eggs each (by weight) were withdrawn from each of the inoculated bulk lots and incubated for 4 days at room temperature (ca. 23°C). For the APHIS method, each sample was cultured by direct plating onto brilliant green (BG), brilliant green with novobiocin (BGN), xylose lysine desoxycholate (XLD), and xylose lysine agar Tergitol 4 (XLT4) agars. For the preenrichment method, 25-g portions from each pool were enriched in modified tryptic soy broth with 30 mg/liter of FeSO4. After 24 h of incubation, the preenrichments were subcultured to tetrathionate and Rappaport-Vassiliadis broths, and streaked to BG, BGN, bismuth sulfite, XLD, and XLT4 agar plates. SE isolates were confirmed biochemically and serologically. In all of the experiments, the preenrichment method recovered significantly more SE isolates (P < 0.05) of all the phage types and inoculum levels than did the APHIS method. From a total of 539 jumbo egg test portions analyzed, 381 (71%) were SE-positive by the preenrichment method and 232 (43%) were positive by the APHIS method. From a total of 360 medium egg test portions analyzed, 223 (62%) were SE-positive by the preenrichment method and 174 (48%) were positive by the APHIS method. The preenrichment method provided greater sensitivity for the isolation of SE in contaminated egg slurries than did the APHIS method.
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Raskind, Wendy H., Kathy K. Niakan, John Wolff, Mark Matsushita, Ty Vaughan, George Stamatoyannopoulos, Chiaki Watanabe, Jacinda Rios, and Hans D. Ochs. "Mapping of a syndrome of X-linked thrombocytopenia with thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia." Blood 95, no. 7 (April 1, 2000): 2262–68. http://dx.doi.org/10.1182/blood.v95.7.2262.
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Abstract X-linked thrombocytopenia with thalassemia (XLTT; Online Mendelian Inheritance in Man [OMIM] accession number 314050) is a rare disorder characterized by thrombocytopenia, platelet dysfunction, splenomegaly, reticulocytosis, and unbalanced hemoglobin chain synthesis. In a 4-generation family, the gene responsible for XLTT was mapped to the X chromosome, short arm, bands 11-12 (band Xp11-12). The maximum lod score possible in this family, 2.39, was obtained for markers DXS8054 and DXS1003, at a recombination fraction of 0. Recombination events observed for XLTT and markers DXS8080 and DXS8023 or DXS991 define a critical region that is less than or equal to 7.65 KcM and contains the gene responsible for the Wiskott-Aldrich syndrome (WAS; OMIM accession number 301000) and its allelic variant X-linked thrombocytopenia (XLT; OMIM accession number 313900). Manifestations of WAS include thrombocytopenia, eczema, and immunodeficiency. In WAS/XLT the platelets are usually small, and bleeding is proportional to the degree of thrombocytopenia. In contrast, in XLTT the platelet morphology is normal, and the bleeding time is disproportionately prolonged. In this study no alteration in the WAS gene was detected by Northern blot or Western blot analysis, flow cytometry, or complimentary DNA dideoxynucleotide fingerprinting or sequencing. As has been reported for WAS and some cases of XLT, almost total inactivation of the XLTTgene-bearing X chromosome was observed in granulocytes and peripheral blood mononuclear cells from 1 asymptomatic obligate carrier. The XLTT carrier previously found to have an elevated :β hemoglobin chain ratio had a skewed, but not clonal, X-inactivation pattern favoring activity of the abnormal allele. Clinical differences and results of the mutation analyses make it very unlikely that XLTT is another allelic variant of WAS/XLT and strongly suggest that X-linked thrombocytopenia mapping to band Xp11-12 is a genetically heterogeneous disorder.
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Raskind, Wendy H., Kathy K. Niakan, John Wolff, Mark Matsushita, Ty Vaughan, George Stamatoyannopoulos, Chiaki Watanabe, Jacinda Rios, and Hans D. Ochs. "Mapping of a syndrome of X-linked thrombocytopenia with thalassemia to band Xp11-12: further evidence of genetic heterogeneity of X-linked thrombocytopenia." Blood 95, no. 7 (April 1, 2000): 2262–68. http://dx.doi.org/10.1182/blood.v95.7.2262.007k32_2262_2268.
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X-linked thrombocytopenia with thalassemia (XLTT; Online Mendelian Inheritance in Man [OMIM] accession number 314050) is a rare disorder characterized by thrombocytopenia, platelet dysfunction, splenomegaly, reticulocytosis, and unbalanced hemoglobin chain synthesis. In a 4-generation family, the gene responsible for XLTT was mapped to the X chromosome, short arm, bands 11-12 (band Xp11-12). The maximum lod score possible in this family, 2.39, was obtained for markers DXS8054 and DXS1003, at a recombination fraction of 0. Recombination events observed for XLTT and markers DXS8080 and DXS8023 or DXS991 define a critical region that is less than or equal to 7.65 KcM and contains the gene responsible for the Wiskott-Aldrich syndrome (WAS; OMIM accession number 301000) and its allelic variant X-linked thrombocytopenia (XLT; OMIM accession number 313900). Manifestations of WAS include thrombocytopenia, eczema, and immunodeficiency. In WAS/XLT the platelets are usually small, and bleeding is proportional to the degree of thrombocytopenia. In contrast, in XLTT the platelet morphology is normal, and the bleeding time is disproportionately prolonged. In this study no alteration in the WAS gene was detected by Northern blot or Western blot analysis, flow cytometry, or complimentary DNA dideoxynucleotide fingerprinting or sequencing. As has been reported for WAS and some cases of XLT, almost total inactivation of the XLTTgene-bearing X chromosome was observed in granulocytes and peripheral blood mononuclear cells from 1 asymptomatic obligate carrier. The XLTT carrier previously found to have an elevated :β hemoglobin chain ratio had a skewed, but not clonal, X-inactivation pattern favoring activity of the abnormal allele. Clinical differences and results of the mutation analyses make it very unlikely that XLTT is another allelic variant of WAS/XLT and strongly suggest that X-linked thrombocytopenia mapping to band Xp11-12 is a genetically heterogeneous disorder.
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BOWMAN, LAUREN S., KIM M. WATERMAN, ROBERT C. WILLIAMS, and MONICA A. PONDER. "Inoculation Preparation Affects Survival of Salmonella enterica on Whole Black Peppercorns and Cumin Seeds Stored at Low Water Activity." Journal of Food Protection 78, no. 7 (July 1, 2015): 1259–65. http://dx.doi.org/10.4315/0362-028x.jfp-14-483.
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Salmonellosis has been increasingly associated with contaminated spices. Identifying inoculation and stabilization methods for Salmonella on whole spices is important for development of validated inactivation processes. The objective of this study was to examine the effects of inoculation preparation on the recoverability of Salmonella enterica from dried whole peppercorns and cumin seeds. Whole black peppercorns and cumin seeds were inoculated with S. enterica using one dry transfer method and various wet inoculation methods: immersion of spice seeds in tryptic soy broth (TSB) plus Salmonella for 24 h (likely leading to inclusion of Salmonella in native microbiota biofilms formed around the seeds), application of cells grown in TSB, and/or application of cells scraped from tryptic soy agar (TSA). Postinoculation seeds were dried to a water activity of 0.3 within 24 h and held for 28 days. Seeds were sampled after drying (time 0) and periodically during the 28 days of storage. Salmonella cells were enumerated by serial dilution and plated onto xylose lysine Tergitol (XLT4) agar and TSA. Recovery of Salmonella was high after 28 days of storage but was dependent on inoculation method, with 4.05 to 6.22 and 3.75 to 8.38 log CFU/g recovered from peppercorns and cumin seeds, respectively, on XLT4 agar. The changes in surviving Salmonella (log CFU per gram) from initial inoculation levels after 28 days were significantly smaller for the biofilm inclusion method (+0.142pepper, +0.186cumin) than for the other inoculation methods (−0.425pepper, −2.029cumin for cells grown on TSA; −0.641pepper, −0.718cumin for dry transfer; −1.998pepper for cells grown in TSB). In most cases, trends for reductions of total aerobic bacteria were similar to those of Salmonella. The inoculation method influenced the recoverability of Salmonella from whole peppercorns and cumin seeds after drying. The most stable inoculum strategies were dry transfer, 24-h incubation of Salmonella and spices in TSB (i.e., potential inclusion of Salmonella within native microbiota biofilms), and inoculation of Salmonella cells grown on TSA subsequent to drying. However, with the dry transfer method it was difficult to obtain the large amount of inoculum needed for inactivation studies.
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Mejia, W., D. Zapata, E. Mateu, and M. Martin. "Lack of specificity of a combination of Rappaport-Vassiliadis broth and XLT4 agar for the isolation of salmonellae from pig faeces." Veterinary Record 156, no. 5 (January 29, 2005): 150–51. http://dx.doi.org/10.1136/vr.156.5.150.
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WANG, WEI-CHI, YANBIN LI, MICHAEL F. SLAVIK, and HUA XIONG. "Trisodium Phosphate and Cetylpyridinium Chloride Spraying on Chicken Skin to Reduce Attached Salmonella typhimurium." Journal of Food Protection 60, no. 8 (August 1, 1997): 992–94. http://dx.doi.org/10.4315/0362-028x-60.8.992.
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Spraying treatments with trisodium phosphate (TSP) and cetylpyridinium chloride (CPC) were evaluated for their effectiveness in reducing Salmonella typhimurium attached to chicken skins. Chicken skins with an area of 38.5 cm2 were cut from the breast areas of pre-chill chicken carcasses, mounted in a plastic holder, and inoculated with S. typhimurium. The inoculated skins were sprayed with tap water, 10% (wt/vol) TSP, or 0.1 % CPC solutions at 10, 35, or 60°C and 206.8, 413.7, 620.5, 827.4, or 1034.2 kPa for 30 s. After spraying, each skin was rinsed with tap water, transferred to a plastic bag containing 50 ml buffered peptone water, and stomached for 1 min. The stomaching water was collected, diluted serially, plated on xylose lysine tergitol 4 (XLT4) agar and Petrifilm aerobic count plates, and incubated for 18 to 24 h at 37°C. The results showed that tap water spraying reduced S. typhimurium by 0.7 to 1.6 log, while the reduction ranges for TSP and CPC spraying treatments were 1.6 to 2.3 and 1.5 to 2.5 log, respectively. Greater reductions in the numbers of S. typhimurium were obtained in TSP spraying treatments in the high pressure range (620.5 to 1034.2 kPa) and in CPC spraying treatments at 10°C.
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Casagrande, Renata Assis, Luiz Fernando Larangeira Lopes, Eliane Moura dos Reis, Dália dos Prazeres Rodrigues, and Eliana Reiko Matushima. "Isolamento de Salmonella enterica em gambás (Didelphis aurita e Didelphis albiventris) do Estado de São Paulo, Brasil." Ciência Rural 41, no. 3 (March 4, 2011): 492–96. http://dx.doi.org/10.1590/s0103-84782011005000016.
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No Brasil, não há relato de estudos de Salmonella em gambás, sendo assim, este trabalho tem por objetivo determinar a frequência de isolamento de Salmonella enterica em gambás (D. aurita e D. albiventris) no Estado de São Paulo. No período de janeiro de 2005 a dezembro de 2006, foram necropsiados 106 D. aurita e 40 D. albiventris e colhidos fragmentos de intestinos delgado, grosso e suabe da cloaca. As amostras foram plaqueadas diretamente em ágar Mac Conkey, paralelamente suspendidas nos caldos Rappaport-Vassiliadis e Tetrationato e posteriormente plaqueados em ágar XLT4. As colônias sugestivas de Salmonella foram confirmadas através de provas bioquímicas e sorotipagem. Encontrou-se Salmonella enterica em 17,0% (18/106) dos D. aurita. Destes, 50% apresentaram positividade no intestino delgado (ID), 88,9% no intestino grosso (IG) e 66,7% na cloaca. Da espécie S. enterica, as subespécies encontradas foram: diarizonae (11,1%) houtenae e enterica (5,5% cada um); enquanto da subespécie S. enterica enterica os sorotipos foram Newport (83,3%), Typhimurium e Cerro (5,5% cada um). Nos D. albiventris, 17,5% (7/40) eram positivos, sendo que se encontraram 42,8% no ID, 85,7% no IG e 71,4% na cloaca. O sorotipo mais prevalente também foi Newport (71,4%), seguido por Typhimurium, Bareilly e Thompson (14,3% cada um). Através dos resultados obtidos neste estudo pode-se comprovar a presença de Salmonella enterica no trato intestinal de gambás no Brasil.
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XIONG, HUA, YANBIN LI, MICHAEL F. SLAVIK, and JOEL T. WALKER. "Spraying Chicken Skin with Selected Chemicals to Reduce Attached Salmonella typhimurium." Journal of Food Protection 61, no. 3 (March 1, 1998): 272–75. http://dx.doi.org/10.4315/0362-028x-61.3.272.
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Aqueous Solutions of 5% and 10% trisodium phosphate (TSP), 0.1% and 0.5% cetylpyridinium chloride (CPC), 1% and 2% lactic acid (LA), and 0.1 % and 0.5% grapefruit seed extract (DF-100) were evaluated in prechill spraying for reducing Salmonella typhimurium attached on chicken skins. Chicken skins were inoculated with S. typhimurium and then sprayed with the selected Chemical Solutions for 30 sec at 206 kPa and 20°C. After Chemical spraying, the skins were rinsed by spraying tap water for 30 sec. Each skin was stomached in buffered peptone water (BPW) for 1 min. The stomaching water was then diluted serially, inoculated onto both xylose lysine tergitol (XLT4) agar and Aerobic Plate Count (APC) Petrifilm™, and incubated for 24 hr at 37°C. The results showed that the numbers of Salmonella on the chicken skins after the Chemical spraying were significantly lower than those without spray (P < 0.05). The CPC reduced Salmonella by 1.5 to 1.9 log10, TSP resulted in a 2.1 to 2.2 log10 reduction of Salmonella, and DF-100 produced a 1.6 to 1.8 log10 reduction of Salmonella. The LA had a number of Salmonella with a 2.2 log10 reduction. The 0.5% CPC resulted a significantly greater reduction in Salmonella than 0.1% CPC. There were no significant differences in Salmonella reduction between different concentrations of the other three Chemicals.
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DOMINGUEZ, SILVIA A., and DONALD W. SCHAFFNER. "Survival of Salmonella in Processed Chicken Products during Frozen Storage." Journal of Food Protection 72, no. 10 (October 1, 2009): 2088–92. http://dx.doi.org/10.4315/0362-028x-72.10.2088.
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Frozen chicken products have been identified recently as a cause of salmonellosis. At least eight salmonellosis outbreaks from 1998 to 2008 have implicated undercooked frozen chicken nuggets, strips, and entrees as infection vehicles. Thus, the presence of Salmonella in frozen products may pose an infection risk if the product is improperly cooked. The objective of this study was to assess the survivability of Salmonella during frozen storage (−20°C) when inoculated in processed chicken products. Four Salmonella strains originally isolated from poultry were inoculated into frozen chicken nuggets (fully cooked) and frozen chicken strips (containing raw poultry) at initial populations of 104 to 105 CFU/g. Survival was assessed during storage at −20°C for 16 weeks by measuring bacterial growth on minimal, selective, and nonselective agars. Results indicate that cell populations measured in nonselective agars (plate count agar and plate count agar supplemented with tetracycline) and minimal (M9) agar remained relatively constant during the entire −20°C storage period studied (16 weeks) for both chicken nuggets and strips. However, cell populations were significantly (P < 0.05) lower when measured in selective agar (XLT4) during the 16 weeks of frozen storage for both chicken nuggets and strips, suggesting that these cells were structurally injured. The data presented in this study indicate that Salmonella can survive frozen storage when inoculated in frozen, processed chicken products and confirm that microbial counts on selective agar are not representative of the total population of samples subject to freezing.
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Ayachi, Ammar, Omar Bennoune, Nouzha Heleili, and Nadir Alloui. "Minor Salmonella: potential pathogens in eggs in Algeria." Journal of Infection in Developing Countries 9, no. 10 (October 29, 2015): 1156–60. http://dx.doi.org/10.3855/jidc.6526.
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Introduction: Salmonellosis is one of the major foodborne diseases known to be closely related to the consumption of contaminated eggs, infected poultry, and poultry products. Control and survey of the poultry chain are the key elements and the most critical steps in the prevention of human transmission of Salmonella. Methodology: This study was carried out in East Algeria on 150 eggs meant for consumption collected from mini-markets and immediately tested for Salmonella using standard methods (ISO AFNOR 6579 modified in 2002). Briefly, the shell surfaces were carefully wiped using sterile appropriated tissues while the white and yellow yolks were separated. All 10 samples were pooled together and a total of 45 samples were carefully analyzed. Results: A contamination rate of 4.4% was found, and two strains of Salmonella bradford were isolated from white and yellow yolks. The results showed that XLT4 was the best medium for Salmonella isolation from yolks. Screening for other Salmonella in parental chickens using an enzyme-linked immunosorbent assay (ELISA) test revealed seropositive cases of Salmonella enteritidis at the top of the poultry production pyramid. Conclusions: Occurrence of Salmonella in yolks and seropositive results for S. in parental chickens is a serious and potential danger to public health. Radical and preventive measures must be taken at the critical points to control and to avoid human transmission. These measures must be installed at all levels of egg production through the application of appropriate and strict regulations, and use of good hygienic practices in transport, storage, and food preparation.
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Michaelsen, R., F. M. Cardoso, R. N. Schneider, F. A. de Mello, R. M. G. Esteves, M. S. Vilanova, and V. Schmidt. "SALMONELLA TYPHIMURIUM EM LINFONODOS MESENTÉRICOS DE OVINOS AO ABATE." Arquivos do Instituto Biológico 78, no. 1 (March 2011): 97–102. http://dx.doi.org/10.1590/1808-1657v78p0972011.
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RESUMO O rebanho de ovinos no Brasil está estimado em mais de 16 milhões de cabeças. Embora o consumo da carne desta espécie ainda seja pequeno, comparado ao de outros países, o consumo de carne, inclusive ovina, tem sido associado às doenças transmitidas por alimentos, em especial a salmonelose. No presente estudo, investigou-se a ocorrência de salmonelas em linfonodos mesentéricos e conteúdo intestinal de 175 ovinos ao abate. “Pools” constituído por cinco amostras de contéudo fecal ou 5 amostras de linfonodos de 25 g foram pre-enriquecidos em 250 mL de água peptonada tamponada e incubados a 37° C por 18-24 horas. Uma alíquota de 0,1 mL do pré-enriquecimento foi transferida para 9,9 mL de caldo de enriquecimento Rappaport-Vassiliadis e 1,0 mL do pré-enriquecimento foi transferido para 10 mL de caldo tetrationato Muller-Kaufmann, incubados a 42° C for 24h. 10 μL do caldo de enriquecimento foi semeado superfície de placas de ágar BPLS e ágar XLT4 incubadas a 37º C for 24-48h. Colônias suspeitas de salmonela foram testadas por provas bioquímicas e serologicas. Os testes bioquímicos utilizados para identificação de Salmonella foram TSI (triple sugar iron àgar), LIA (lysine iron àgar) e ágar ureia. Sorotipagem foi realizada no Laboratório de Enterobactérias do Instituto Osvaldo Cruz. Isolou-se Salmonella Tiphymurium de um pool de linfonodos mesentéricos, provenientes de cinco animais. O fato de se observar a ocorrência de salmonela em ovino portador sadio alerta para necessidade de monitorar este micro-organismo também nesta espécie, especialmente quando destinada ao abate, com vistas à produção de alimentos seguros.
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YOON, YOHAN, JARRET D. STOPFORTH, PATRICIA A. KENDALL, and JOHN N. SOFOS. "Inactivation of Salmonella during Drying and Storage of Roma Tomatoes Exposed to Predrying Treatments Including Peeling, Blanching, and Dipping in Organic Acid Solutions." Journal of Food Protection 67, no. 7 (July 1, 2004): 1344–52. http://dx.doi.org/10.4315/0362-028x-67.7.1344.
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The objective of this study was to evaluate the influence of predrying treatments, i.e., peeling, blanching prior to inoculation, and dipping in organic acid solutions, on inactivation of Salmonella during drying (60°C for 14 h) and aerobic storage (25°C for 28 days) of inoculated (five-strain composite, 7.1 to 7.4 log CFU/g) Roma tomato halves. Four predrying treatments groups were established. One group received no treatment (C). In the other three groups, unpeeled-unblanched, unpeeled-blanched (steam blanched at 88°C for 3 min), peeled-unblanched, and peeled-blanched tomato halves were immersed for 10 min in water (W), ascorbic acid solution (AA; 3.40%, pH 2.48), or citric acid solution (CA; 0.21%, pH 2.51). Appropriate dilutions of homogenized tomato samples were spread plated on tryptic soy agar with 0.1% pyruvate and XLT4 agar for bacterial enumeration during drying and storage. Ten minutes of immersion in W, AA, or CA reduced bacterial populations by 0.7 to 1.6 log CFU/g. After 14 h of dehydration, total log reductions in the populations of bacteria were 3.2 to 4.5 (C), 3.7 to 4.9 (W), >5.6 to >6.1 (AA), and 4.5 to 5.5 (CA) log CFU/g, depending on type of agar used and condition of tomato samples. During drying and storage, the order of pathogen inactivation for predrying dipping treatments was AA > CA > W > C, with AA and CA rendering bacterial populations below detectable levels (<1.3 log CFU/g) prior to storage and between 7 and 14 days of storage, respectively. The results also indicated that peeling and blanching of tomatoes prior to inoculation may not necessarily affect destruction of Salmonella during the drying process. Use of predrying acid dipping treatments of tomatoes, especially in AA, may improve destruction of Salmonella during the dehydration process.
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CALICIOGLU, MEHMET, JOHN N. SOFOS, PATRICIA A. KENDALL, and GARY C. SMITH. "Effects of Acid Adaptation and Modified Marinades on Survival of Postdrying Salmonella Contamination on Beef Jerky during Storage." Journal of Food Protection 66, no. 3 (March 1, 2003): 396–402. http://dx.doi.org/10.4315/0362-028x-66.3.396.
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This study was undertaken to evaluate the survival of acid-adapted and nonadapted Salmonella cultures inoculated after drying on beef jerky that had been treated with marinades before drying at 60°C for 10 h. Beef slices were (i) not treated prior to refrigeration at 4°C for 24 h (control [C]); (ii) marinated with traditional marinade (TM), (iii) marinated with TM modified with 1.2% sodium lactate, 9% acetic acid, and 68% soy sauce containing 5% ethanol (MM) at twice the amount used in the TM treatment; (iv) dipped into 5% acetic acid and then marinated with TM (AATM); and (v) dipped into 1% Tween 20, then dipped into 5% acetic acid, and then marinated with TM (TWTM); after each treatment, meat slices were refrigerated at 4°C for 24 h prior to drying. Dried slices were inoculated with acid-adapted or nonadapted Salmonella (ca. 5.7 log CFU/cm2) prior to aerobic storage at 25°C for 60 days. Tryptic soy agar with 0.1% pyruvate, as well as xylose-lysine-tergitol 4 (XLT4) agar, was used to determine survivor counts. Bacterial decreases achieved with the different treatments were found to be in the following order: TWTM (5.4 to 6.3 log units) ≥ AATM ≥ MM > C ≥ TM (2.9 to 5.1 log units). Acid-adapted Salmonella decreased faster than nonadapted Salmonella for all treatments. Bacterial populations decreased to below the detection limit (−0.4 log CFU/cm2) in as few as 14 days or remained detectable by direct plating after 60 days of storage, depending on acid adaptation, treatment, and agar media. The results of this study indicate that the modified marinades used in jerky processing and the low water activity of the dried product provide antimicrobial effects against possible postprocessing contamination with Salmonella, while the preparation of cultures under acid-adaptation conditions did not increase Salmonella survival during storage and may have reduced it.
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WILLIAMS, ROBERT C., SUSAN S. SUMNER, and DAVID A. GOLDEN. "Survival of Escherichia coli O157:H7 and Salmonella in Apple Cider and Orange Juice as Affected by Ozone and Treatment Temperature." Journal of Food Protection 67, no. 11 (November 1, 2004): 2381–86. http://dx.doi.org/10.4315/0362-028x-67.11.2381.
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Inactivation of Escherichia coli O157:H7 and Salmonella in apple cider and orange juice treated with ozone was evaluated. A five-strain mixture of E. coli O157:H7 or a five-serovar mixture of Salmonella was inoculated (7 log CFU/ml) into apple cider and orange juice. Ozone (0.9 g/h) was pumped into juices maintained at 4°C, ambient temperature (approximately 20°C), and 50°C for up to 240 min, depending on organism, juice, and treatment temperature. Samples were withdrawn, diluted in 0.1% peptone water, and surface plated onto recovery media. Recovery of E. coli O157:H7 was compared on tryptic soy agar (TSA), sorbitol MacConkey agar, hemorrhagic coli agar, and modified eosin methylene blue agar; recovery of Salmonella was compared on TSA, bismuth sulfite agar, and xylose lysine tergitol 4 (XLT4) agar. After treatment at 50°C, E. coli O157:H7 populations were undetectable (limit of 1.0 log CFU/ml; a minimum 6.0-log CFU/ml reduction) after 45 min in apple cider and 75 min in orange juice. At 50°C, Salmonella was reduced by 4.8 log CFU/ml (apple cider) and was undetectable in orange juice after 15 min. E. coli O157:H7 at 4°C was reduced by 4.8 log CFU/ml in apple cider and by 5.4 log CFU/ml in orange juice. Salmonella was reduced by 4.5 log CFU/ml (apple cider) and 4.2 log CFU/ml (orange juice) at 4°C. Treatment at ambient temperature resulted in population reductions of less than 5.0 log CFU/ml. Recovery of E. coli O157:H7 and Salmonella on selective media was substantially lower than recovery on TSA, indicating development of sublethal injury. Ozone treatment of apple cider and orange juice at 4°C or in combination with mild heating (50°C) may provide an alternative to thermal pasteurization for reduction of E. coli O157:H7 and Salmonella in apple cider and orange juice.
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Gerrits, Anja J., Emily Leven, Andrew L. Frelinger, Michelle A. Berny-Lang, Hannah Tamary, Shoshana Revel-Vilk, Sabrina L. Carmichael, W. Beau Mitchell, Alan D. Michelson, and James B. Bussel. "Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia." Blood 122, no. 21 (November 15, 2013): 3536. http://dx.doi.org/10.1182/blood.v122.21.3536.3536.
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Abstract Introduction Patients with Wiskott-Aldrich syndrome (WAS) including X-linked thrombocytopenia (XLT) have microthrombocytopenia, and hemorrhage is a major problem. Current management options in WAS/XLT patients include splenectomy, human stem cell transplant (HSCT) and gene therapy. In this study, we asked whether eltrombopag, a thrombopoietin mimetic, would increase platelet counts, improve platelet function, and/or reduce bleeding in WAS/XLT patients. Methods In 9 WAS/XLT patients and 8 age-matched healthy control subjects, flow cytometry was used to assess platelet function by surface expression of activated GPIIb-IIIa (reported by PAC1) and P-selectin in whole blood after stimulation with low and high concentrations of ADP or thrombin receptor activating peptide (TRAP), and by annexin V binding (a measure of surface phosphatidylserine) in platelet-rich plasma after stimulation with convulxin. Eltrombopag was administered to 5 WAS and 3 XLT patients (50 mg in 2 adults, and 1 mg/kg in 6 children up to 75 mg/day) with a goal platelet count ≥50k. Results High concentration ADP- or TRAP-induced PAC1 mean fluorescence intensity (MFI) was significantly reduced in WAS/XLT patients compared to healthy controls (Figure). Platelet surface P-selectin MFI in response to TRAP was also significantly reduced. In contrast, annexin V binding to platelets was not different between WAS/XLT and controls. As expected, platelet size of WAS/XLT patients was smaller than controls. WAS protein (which is deficient in WAS/XLT), is important for cytoskeletal movement and could therefore be involved in trafficking of surface proteins. However, surface expression of activated GPIIb-IIIa and P-selectin were no longer different in WAS/XLT patients vs. controls when corrected for size by platelet surface CD41 MFI. In 3 WAS/XLT patients whose platelet count improved on eltrombopag, platelet function did not improve. The table summarizes the results of eltrombopag treatment in 5 responders (2 WAS, 3 XLT patients) and 3 non-responders (3 WAS patients). Comparison of baseline, peak and change in immature platelet fraction in 5 WAS/XLT responders to eltrombopag vs. 7 pediatric chronic immune thrombocytopenia (ITP) patients responding to eltrombopag showed a significant decrease in all three measures, suggesting that platelet production in WAS/XLT patients is more difficult to increase than in ITP patients. Long term eltrombopag use in WAS/XLT patients showed no tachyphylaxis, transaminitis or induction of malignancy. Conclusions 1) Baseline platelet function in WAS/XLT is reduced compared to healthy age-matched controls, as measured by agonist-induced platelet surface activated GPIIb-IIIa and P-selectin. 2) This reduction is proportional to the reduced platelet size in WAS/XLT compared to controls. 3) In contrast, annexin V binding (a measure of platelet procoagulant activity) showed no differences between WAS/XLT and controls. 4) Eltrombopag has beneficial effects on the thrombocytopenia and bleeding, but not platelet function, in the majority of WAS/XLT patients. 5) This eltrombopag-induced reduction in bleeding is presumably primarily the result of the increased platelet count, but it was also observed in 2 eltrombopag “non-responders” (i.e. patients whose platelet counts did not increase after eltrombopag). 6) The production of new platelets with eltrombopag is less in WAS/XLT than in ITP. Disclosures: Off Label Use: Eltrombopag was given to WAS/XLT patients for treatment of thrombocytopenia. Michelson:Sysmex: Honoraria. Bussel:GlaxoSmithKline: Equity Ownership, Membership on an entity’s Board of Directors or advisory committees, Research Funding; Amgen: Equity Ownership, Membership on an entity’s Board of Directors or advisory committees, Research Funding; Cangene: Research Funding; Genzyme: Research Funding; IgG of America: Research Funding; Immunomedics: Research Funding; Ligand: Membership on an entity’s Board of Directors or advisory committees, Research Funding; Eisai: Membership on an entity’s Board of Directors or advisory committees, Research Funding; Shionogi: Membership on an entity’s Board of Directors or advisory committees, Research Funding; Sysmex: Research Funding; Symphogen: Membership on an entity’s Board of Directors or advisory committees.
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Pecci, Alessandro, Giuseppe Loffredo, Paola Izzo, Patrizia Noris, Michela Grosso, Gaetano Bergamaschi, Vittorio Rosti, et al. "Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis." Thrombosis and Haemostasis 91, no. 01 (2004): 129–40. http://dx.doi.org/10.1160/th03-05-0290.
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SummaryThe transcription factor GATA-1, together with its cofactor FOG-1, regulates erythropoiesis and megakaryocytopoiesis. Mutations in the DNA or FOG-1 binding sites of its N-terminal zinc finger result in different illnesses. Alterations of the FOG-1 face are responsible for dyserythropoietic anemia with thrombocytopenia while R216Q, the only mutation identified in the DNA face, induces X-linked thrombocytopenia with thalassemia (XLTT). The former disorder has been studied in detail whereas little is known about the latter since only one family has been investigated. We studied a second family with an R216Q, showing that XLTT and dyserythropoietic anemia with thrombocytopenia, even if different clinical entities, are closely related disorders. In both cases, patients present mild dyserythropoiesis, red cell hemolysis, severely defective maturation of megakaryocytes, macrothrombocytopenia with α-granule deficiency, and abnormalities of the cytoplasmic membrane system. However, a thalassemia minor phenotype has only been described in patients with XLTT whereas severe anemia and thrombocytopenia with evident defects of platelet composition and function may be observed only in dyserythropoietic anemia with thrombocytopenia.
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Bussel, James B., Andrew L. Frelinger, William B. Mitchell, Mariana P. Pinheiro, Marc R. Barnard, Michael Lampa, Bethan Psaila, Nayla Boulad, Hannah Tamary, and Alan D. Michelson. "Platelet Function and Response to Thrombopoietin Mimetics In Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia." Blood 116, no. 21 (November 19, 2010): 1429. http://dx.doi.org/10.1182/blood.v116.21.1429.1429.
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Abstract Abstract 1429 Introduction: Wiskott-Aldrich syndrome (WAS) is a complex disease in which patients suffer from both bleeding and immunodeficiency. Thrombocytopenia is severe, platelets are small and may be dysfunctional; intracranial hemorrhage occurs in 20% of patients. In patients with the full WAS phenotype, early use of human stem cell transplantation (HSCT) corrects the immune deficiency and thrombocytopenia although platelet transfusions are often required. Bleeding is the main complication of the X-linked thrombocytopenia (XLT) form, whose management may include HSCT, splenectomy, or supportive care; IVIG has limited benefit. Platelet function in WAS/XLT patients with low platelet counts has not been reported because of the inability to accurately perform standard assays in severely thrombocytopenic patients. The present study evaluated platelet function and thrombopoietin (TPO) mimetic (romiplostim or eltrombopag) treatment of thrombocytopenia in patients with WAS/XLT. Methods: Flow cytometry, which enables evaluation of platelet function despite thrombocytopenia, was used to study platelets in 8 WAS/XLT patients and age-matched normal controls. Platelet function was measured by: surface expression of P-selectin and activated GPIIb-IIIa (reported by PAC1) in whole blood following stimulation with low and high dose ADP and thrombin receptor activating peptide (TRAP); annexin V binding, a marker of platelet surface expression of the procoagulant phospholipid phosphatidylserine, in platelet-rich plasma (normalized to 30,000 platelets/μL) following stimulation with convulxin (a specific agonist of the platelet collagen receptor GPVI). The effects of romiplostim (10 μg/kg/wk SQ) or eltrombopag (50-75 mg/day PO) on platelet counts and bleeding were evaluated in 4 patients (3 WAS, 1 XLT). Results: Platelets from WAS/XLT patients showed reduced TRAP-induced platelet surface P-selectin and activated GPIIb-IIIa (p <0.05) compared to age-matched control children (Figure). In contrast, convulxin-induced annexin V binding to platelets was greater than normal controls (p <0.05). These findings were observed in both WAS and XLT platelets and in non-splenectomized (6) and splenectomized (2) patients. As expected, platelet size of WAS/XLT platelets, as judged by forward light scatter, was smaller than that of normal controls. Two infants were treated with romiplostim and 2 older patients were treated with eltrombopag. One infant had 2 intervals of approximately 1 month each in which his platelets were supported entirely by romiplostim and maintained >20-30,000/μL. However, at times of infection with prolonged antibiotics, romiplostim was insufficient although it enabled platelet transfusions to be given weekly. In the other infant, who had both WAS-associated and autoimmune thrombocytopenia, romiplostim had no apparent effect; his platelets were only responsive to the combination of IVIG/methylprednisolone plus platelet transfusion given 2–3 times weekly prior to HSCT. A 25 year old XLT patient received eltrombopag for 4 weeks with a platelet increase from 18 to 33,000/μL. A fourth patient, with WAS, who had failed HSCT was treated with eltrombopag without consistent success. In the first infant on romiplostim and the XLT patient on eltrombopag, clinical bleeding was reduced in conjunction with the increased platelet count. Conclusions: Bleeding in WAS/XLT may be the result of both platelet dysfunction and thrombocytopenia. WAS/XLT platelets are smaller and express less surface P-selectin and less activated GPIIb-IIIa in response to TRAP stimulation than age-matched controls. However, WAS/XLT platelets, when stimulated via the collagen receptor GPVI, express more phosphatidylserine, which supports formation of the prothrombinase complex, than control platelets. The reduced platelet function in WAS/XLT patients resulting from reduced platelet number, size, and surface P-selectin and activated GPIIb-IIIa may be counterbalanced in part by increased GPVI-mediated procoagulant activity. However, increased platelet procoagulant activity may shorten platelet lifespan, contributing to the thrombocytopenia in WAS/XLT. Platelet counts were increased and clinical bleeding was decreased in 2 of 4 WAS/XLT patients treated with TPO mimetics. The possible use of TPO mimetics to increase platelet count and/or function in WAS/XLT patients merits further study. Disclosures: Bussel: Portola: Consultancy; Eisai: Consultancy, Membership on an entity's Board of Directors or advisory committees, Research Funding; GlaxoSmithKline: Consultancy, Equity Ownership, Research Funding, Speakers Bureau; Amgen Inc.: Equity Ownership, Research Funding, Speakers Bureau; Cangene: Research Funding; Genzyme: Research Funding; Immunomedics: Research Funding; Ligand: Research Funding, Speakers Bureau; Shionogi: Research Funding, Speakers Bureau; Sysmex: Research Funding. Off Label Use: romiplostim and eltrombopag; increase platelet counts in Wiskott-Aldrich syndrome/X-linked thrombocytopenia patients. Michelson:GlaxoSmithKline: Honoraria.
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Albert, Michael H., Tanja C. Bittner, Shigeaki Nonoyama, Lucia Dora Notarangelo, Siobhan Burns, Kohsuke Imai, Teresa Espanol, et al. "X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options." Blood 115, no. 16 (April 22, 2010): 3231–38. http://dx.doi.org/10.1182/blood-2009-09-239087.
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Abstract A large proportion of patients with mutations in the Wiskott-Aldrich syndrome (WAS) protein gene exhibit the milder phenotype termed X-linked thrombocytopenia (XLT). Whereas stem cell transplantation at an early age is the treatment of choice for patients with WAS, therapeutic options for patients with XLT are controversial. In a retrospective multicenter study we defined the clinical phenotype of XLT and determined the probability of severe disease-related complications in patients older than 2 years with documented WAS gene mutations and mild-to-moderate eczema or mild, infrequent infections. Enrolled were 173 patients (median age, 11.5 years) from 12 countries spanning 2830 patient-years. Serious bleeding episodes occurred in 13.9%, life-threatening infections in 6.9%, autoimmunity in 12.1%, and malignancy in 5.2% of patients. Overall and event-free survival probabilities were not significantly influenced by the type of mutation or intravenous immunoglobulin or antibiotic prophylaxis. Splenectomy resulted in increased risk of severe infections. This analysis of the clinical outcome and molecular basis of patients with XLT shows excellent long-term survival but also a high probability of severe disease-related complications. These observations will allow better decision making when considering treatment options for individual patients with XLT.
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Gerrits, Anja J., Emily A. Leven, Andrew L. Frelinger, Sophie L. Brigstocke, Michelle A. Berny-Lang, W. Beau Mitchell, Shoshana Revel-Vilk, et al. "Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia." Blood 126, no. 11 (September 10, 2015): 1367–78. http://dx.doi.org/10.1182/blood-2014-09-602573.
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Key Points Platelet function in WAS/XLT, measured by agonist-induced surface-activated GPIIb-IIIa and P-selectin, is proportional to platelet size. Eltrombopag increased platelet counts, but did not improve platelet activation, in most WAS/XLT patients.
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Schwartz, Marianne, Albert Békássy, Mikael Donnér, Thomas Hertel, Stefan Hreidarson, Gitte Kerndrup, Helge Stormorken, et al. "Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene." Thrombosis and Haemostasis 75, no. 04 (1996): 546–50. http://dx.doi.org/10.1055/s-0038-1650318.
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SummaryTwelve different mutations in the WASP gene were found in twelve unrelated families with Wiskott-Aldrich syndrome (WAS) or X-linked thrombocytopenia (XLT). Four frameshift, one splice, one nonsense mutation, and one 18-base-pair deletion were detected in seven patients with WAS. Only missense mutations were found in five patients diagnosed as having XLT. One of the nucleotide substitutions in exon 2 (codon 86) results in an Arg to Cys replacement. Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. The finding of mutations in the WASP gene in both WAS and XLT gives further evidence of these syndromes being allelic. The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.
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Jin, Yinzhu, Cinzia Mazza, Jacinda R. Christie, Silvia Giliani, Maurilia Fiorini, Patrizia Mella, Francesca Gandellini, et al. "Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation." Blood 104, no. 13 (December 15, 2004): 4010–19. http://dx.doi.org/10.1182/blood-2003-05-1592.
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Abstract The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. X-linked thrombocytopenia (XLT) is an allelic variant of WAS which presents with a milder phenotype, generally limited to thrombocytopenia. WAS and XLT are caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene which encodes a 502-amino acid protein, named WASP. WASP is thought to play a role in actin cytoskeleton organization and cell signaling. Here, we report the identification of 141 unique mutations, 71 not previously reported, from 227 WAS/XLT families with a total of 262 affected members. When possible we studied the effects of these mutations on transcription, RNA splicing, and protein expression. By analyzing a large number of patients with WAS/XLT at the molecular level we identified 5 mutational hotspots in the WASP gene and have been able to establish a strong association between genotype and phenotype. (Blood. 2004;104:4010-4019)
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Tubman, Venée N., Jason E. Levine, Dean R. Campagna, Rita Monahan-Earley, Ann M. Dvorak, Ellis J. Neufeld, and Mark D. Fleming. "X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation." Blood 109, no. 8 (January 5, 2007): 3297–99. http://dx.doi.org/10.1182/blood-2006-02-004101.
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AbstractWe identified a family with gray platelet syndrome (GPS) segregating as a sex-linked trait. Affected males had a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of GPS, while obligate carrier females were asymptomatic but had dimorphic platelets on peripheral smear. Associated findings included mild erythrocyte abnormalities in affected males. Linkage analysis revealed a 63 cM region on the X chromosome between markers G10578 and DXS6797, which segregated with the platelet phenotype and included the GATA1 gene. Sequencing of GATA1 revealed a G-to-A mutation at position 759 corresponding to amino acid change Arg216Gln. This mutation was previously described as a cause of X-linked thrombocytopenia with thalassemia (XLTT) but not of gray platelet syndrome. Our findings suggest that XLTT is within a spectrum of disorders constituting the gray platelet syndrome, and we propose that GATA1 is an upstream regulator of the genes required for platelet α-granule biogenesis.
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Di Segni, Matteo, Sebastian Luca D'Addario, Lucy Babicola, Donald Ielpo, Luisa Lo Iacono, Diego Andolina, Alessandra Accoto, et al. "Xlr4 as a new candidate gene underlying vulnerability to cocaine effects." Neuropharmacology 168 (May 2020): 108019. http://dx.doi.org/10.1016/j.neuropharm.2020.108019.
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TURCAN, Doina, Lucia ANDRIES, Alexandr DORIF, and Victoria SACARA. "Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia." One Health & Risk Management 2, no. 3 (June 17, 2021): 61–66. http://dx.doi.org/10.38045/ohrm.2021.3.10.
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Introduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations within the WASp gene result in a wide heterogeneity of clinical disease, ranging from ‘classical WAS’ to mild asymptomatic thrombocytopenia (X-linked thrombocytopenia [XLT]), or congenital neutropenia (X-lined neutropenia [XLN]).Case presentation. This present paper reports a phenotypical and laboratory description of two children diagnosed with WAS and one child diagnosed with XLT. The first case was a six months old male with septicemia, thrombocytopenia, eczema and petechial rash. The second case was a 2 years old boy presenting with complaints of recurrent infections, eczema and thrombocytopenia with small platelet size. The third case was a 16 years old boy who presented with thrombocytopenia and recurrent sinopulmonary infections.Conclusions. Due to a wide spectrum of clinical findings, the diagnosis of WAS/XLT should be considered in any male patient presenting with petechiae, bruises, and congenital or early-onset thrombocytopenia associated with small platelet size.
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Wan, Yang, Xiaofan Zhu, Xiaojuan Chen, Wenbin An, Peihong Zhang, Yingchi Zhang, and Ye Guo. "Splenectomy in a Child of X-Linked Thrombocytopenia with Thalassemia and Bone Marrow Fibrosis : Hemoglobin and Platelet Count Were Improved." Blood 124, no. 21 (December 6, 2014): 1367. http://dx.doi.org/10.1182/blood.v124.21.1367.1367.
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Abstract X-linked thrombocytopenia with thalass emia (XLTT)(OMIM 314050)was first described by Thompson in 1977(Thompson et al. J Blood 1977 50(2):303-16). This rare inherent disorder was caused by a nucleotide change G>A at position 647, which leads to an amino acid substitution of arginine to glutamine (R216Q) in the gene of GATA-1 on the band p11-12 ohuman X chromosome(Raskind et al. Blood 2000, 95(7):2262-8 ;Yu et al.J Blood 2002,100(6): 2040-2045). GATA-1, belonging to the GATA family of transcription factors plays a crucial role in the development of several hematopoietic cell lines ( Ferreira et al. J Mol Cell Biol 2005,25(4): 1215-1227) . The missense mutation(R216Q) in XLTT affects GATA-1 binding to palindromic DNA sites (Yu et al.J Blood 2002,100(6): 2040-2045). The clinical characteristics of XLTT are mild thrombocytopenia, splenomegaly, reticulocytosis, hemolytic anemia and unbalanced hemoglobin (Hb) chain synthesis resembling ¦Â-thalassemia (Raskind et al. Blood 2000, 95(7):2262-8 ; Balduini et al. J Thromb Haemost 2004, Jan;91(1):129-40). About 7 families of XLTT were reported before (Millikan et al.J Semin Thromb Hemost 2011,37(6): 682-689; Danielsson et al. J Lakartidningen 2012 ,109(34-35): 1474-1477).Bone marrow fibrosis is described only in tow Swedish families ( Danielsson et al. J Lakartidningen 2012 ,109(34-35): 1474-1477).But there is limited data about the treament and prognosis of the diesase. Here we describe the full clinical characteristics of a boy of XLTT who was treated by splenectomy. The patient was first admitted at the age of 1year and 8 months in 2011.The chief complain was skin petechia and pale for more than one month. The boy had lower weight but no visible malformation. Feeding difficult and lag of language development were also complained.His Liver was 2.3cm below the right ribs and spleen was 3.2cm below the left. Peripheral blood count showed hemoglobin 8 g/dL, MCV76.7fl, MCH21.8 pg,MCHC284 g/L and reticulocyte count 0.1764¡Á1012/L. Peripheral blood smear demonstrated marked anisopoikilocytosis, polychromasia and nucleated RBCs.Platelet count was 64¡Á109/L with normal morphology.Wight blood cell was normal in number and morphology.elevated to 0.226(normal range 0-0.025) while HBA2 and hemoglobin electrophoresis was normal. Bone marrow biopsy and aspirate smear revealed a hypercellular marrow with dysplasia of erythrocyte series and megakaryoblasts (Figure 1 A). Polynuclear erythroblast ,micromegakaryocytes and hypolobated megakaryocytes could be easily seen (Figure 1 B). Fibrosis proliferation was obvious (Figure 1 A). Genetic analysis discovered a mutantion of GATA-1(R216Q)and excluded mutations of hemoglobin gnens and JAK-2. Patient was treated with dexamethasone and thalidomide which got little effect. The baseline hemoglobin was 6-8 g/dL.Platelet count ranged from 30 to 70¡Á109/L. Splenectomy was done at the age of 5years and 4 months because of constantly RBC transfusion and splenomegaly. Fibrosis proliferation and extramedullary hematopoiesis in spleen were proved by biopsy (Figure 1 C,D).The boy's complete blood count was recovered 4 months after splenectomy. Hemoglobin rose to11.6 g/dL and platelet count was 337¡Á109/L. HBF was still high at 0.226. Multifocal fibrosis proliferation still existed in bone marrow biopsy but with no myelodysplasia (Figure 1 E,F). Hepatomegaly didn't progress. He has good quality of life,and normal growth and intelligence development. Splenectomy can be a therapeutic strategy of X-linked thrombocytopenia with thalassemia. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.
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Schwarz, Klaus, Shigeaki Nonoyama, Manuel C. Peitsch, Geneviève de Saint Basile, Teresa Espanol, Anders Fasth, Alain Fischer, et al. "WASPbase: a database of WAS- and XLT-causing mutations." Immunology Today 17, no. 11 (November 1996): 496–502. http://dx.doi.org/10.1016/s0167-5699(96)80901-7.
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Zhu, Q., M. Zhang, RM Blaese, JM Derry, A. Junker, U. Francke, SH Chen, and HD Ochs. "The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene." Blood 86, no. 10 (November 15, 1995): 3797–804. http://dx.doi.org/10.1182/blood.v86.10.3797.bloodjournal86103797.
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The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema, recurrent infections, and immunodeficiency. Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency. Because the gene responsible for WAS has been sequenced, it was possible to correlate the WAS phenotypes with WAS gene mutations. Using a fingerprinting screening technique, we determined the approximate location of the mutation in 13 unrelated WAS patients with mild to severe clinical symptoms. Direct sequence analysis of cDNA and genomic DNA obtained from patient-derived cell lines showed 12 unique mutations distributed throughout the WAS gene, including insertions, deletions, and point mutations resulting in amino acid substitutions, termination, exon skipping, or splicing defects. Of 4 unrelated patients with the XLT phenotype, 3 had missense mutations affecting exon 2 and 1 had a splice-site mutation affecting exon 9. Patients with classic WAS had more complex mutations, resulting in termination codons, frameshift, and early termination. These findings provide direct evidence that XLT and WAS are caused by mutations of the same gene and suggest that severe clinical phenotypes are associated with complex mutations.
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Ajuwon, Ademola J., Oladimeji Oladepo, Joshua D. Adeniyi, and William R. Brieger. "Sexual Practices That May Favor the Transmission of HIV in a Rural Community in Nigeria." International Quarterly of Community Health Education 14, no. 4 (January 1994): 403–16. http://dx.doi.org/10.2190/pp0h-tc8g-xlta-7whj.
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The Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) have been documented as a primarily urban phenomenon in Nigeria. The risk of spread to rural communities, where the largest portion of the population still lives, exists. This article presents a qualitative research study that was designed to explore sexual practices in a rural Nigerian community that held potential risk for introducing HIV into the community and for enabling HIV transmission should an infected person enters local sexual networks, in the small town of Ago-Are, Oyo State. Seven key informant interviews, in-depth interviews and observations with five commercial sex workers (CSWs), and focus group discussions (FGD) with married and single male and female residents were held. CSWs were found to be the most likely route whereby HIV could enter the community, both because of their own mobility, being resident in the community on average only nine months, and because of the mobility of their main clients, migrant farm laborers and commercial drivers. This did not preclude local patronage, which was more discrete. Another possible point of entry for HIV was through casual sexual relations during ceremonies, holidays and festivals, when towns' people working in the large urban centers came home. Within the community, extramarital sexual relations were posited as a likely route for spread within the community. The continued existence of a taboo against sexual intercourse while a mother is breastfeeding, frequent informal divorces and a tendency toward polygamy were identified by FGD members as factors that encourage extra-marital sex. The strong role that social and religious associations play in the community was identified as an ideal mechanism for health education to prevent HIV/AIDS.
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TANZI, M. CRISTINA, SILVIA FARE, and PAOLA PETRINI. "In vitro Stability of Polyether and Polycarbonate Urethanes." Journal of Biomaterials Applications 14, no. 4 (April 1, 2000): 325–48. http://dx.doi.org/10.1106/7tju-h1ya-4nyt-xl84.
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Chen, Gwo-Dong, Kuo-Liang Ou, and Chin-Yeh Wang. "Use of Group Discussion and Learning Portfolio to Build Knowledge for Managing Web Group Learning." Journal of Educational Computing Research 28, no. 3 (April 2003): 291–315. http://dx.doi.org/10.2190/3vxr-a5qt-xltp-twpk.
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To monitor and enhance the learning performance of learning groups in a Web learning system, teachers need to know the learning status of the group and determine the key influences affecting group learning outcomes. Teachers can achieve this goal by observing the group discussions and learning behavior from Web logs and aanlyzing the Web log data to obtain the relevant information. However, Web logs are not systematically organized and the discussions are extensive. Consequently, teachers must struggle to extract information from logs and intuitively apply teaching rules based on experience when managing the groups. Rather than using statistics packages to evaluate hypotheses, this work presents a methodology of applying existing data and text mining tools to automatically gather learning status and predict performance of learning groups from the contents of discussions and from log records of learning behaviors. Meanwhile, the methodology infers a causal network exists between learning features and learning performance. Knowledge is inferred based on statistics and probability reasoning and social interdependency theory. The causal network can suggest means of enhancing learning performance to teachers. Simultaneously, teachers can use the knowledge of learning groups obtained to manage group learning process on the Web. Experimental results of applying the novel methodology to manage a group learning class organized over the Web and containing 706 students are also presented.
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Abella, E., E. Feliu, I. Granada, F. Millá, A. Oriol, J. M. Ribera, L. Sánchez-Planell, Ll Berga, J. C. Reverter, and C. Rozman. "Bone Marrow Changes in Anorexia Nervosa Are Correlated With the Amount of Weight Loss and Not With Other Clinical Findings." American Journal of Clinical Pathology 118, no. 4 (October 2002): 582–88. http://dx.doi.org/10.1309/2y7x-ydxk-006b-xlt2.
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Sarkar, Koustav, Sanjoy Sadhukhan, Seong-Su Han, and Yatin M. Vyas. "Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott-Aldrich syndrome." Blood 124, no. 23 (November 27, 2014): 3409–19. http://dx.doi.org/10.1182/blood-2014-07-587642.
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Albert, Michael H., Tanja Bittner, Daniel Stachel, Shigeaki Nonoyama, Lucia Notarangelo, Siobhan Burns, Isabelle Pellier, et al. "Clinical Phenotype and Long Term Outcome in a Large Cohort of X-Linked Thrombocytopenia (XLT)/Mild Wiskott-Aldrich-Syndrome Patients." Blood 112, no. 11 (November 16, 2008): 90. http://dx.doi.org/10.1182/blood.v112.11.90.90.
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Abstract A large proportion of patients with mutations in the Wiskott Aldrich syndrome (WAS) protein gene exhibit the milder phenotype termed X-linked thrombocytopenia (XLT). Intravenous immunoglobulin and antibiotic prophylaxis until stem cell transplantation (SCT) at an early age is the treatment of choice for classical WAS patients. For patients with XLT the optimal treatment is much less clear. Most of them reach adulthood without significant problems. However, severe complications such as infections, bleeding, autoimmune disorders and malignancies have been observed in these patients, albeit at a lower rate than in classical WAS patients. In order to provide a basis for treatment decisons in XLT patients we intended to define the natural course of disease in XLT patients and assess the probability of severe disease related complications. A retrospective survey at centers treating primary immunodeficiency patients was carried out and data were collected for patients with a documented WASP gene mutation and a WAS disease severity score of 2 or less, implicating thrombocytopenia and mild eczema and minor infections only. Data from a total of 182 patients from 12 countries could be analyzed. Median age at last follow-up was 11.2 years (range 0.4–74.6). Overall probability of survival censored for SCT was favorable in this cohort with 95%, 86% and 78% at 20, 40 and 60 years of age respectively. We did however observe a high rate of severe disease related events such as potentially life threatening infection or bleeding, autoimmune disease or malignancy. Therefore the probability to be alive without a serious event was only 66%, 45% and 29% at 20, 40 and 60 years respectively. Out of all 182 patients 13 (7%) developed severe infectious events, 3 of which were fatal. Severe bleeding episodes occurred in 23/182 (13%), 4 of which were fatal. Autoimmune disease developed in 22/182 (12%) and 9/182 (5%) were diagnosed with malignancy, 6 of whom have died. Overall and event free survival probabilities were not significantly influenced by the type of mutation or the presence of WASProtein. Patients receiving any antibiotic prophylaxis or IVIG had no survival benefit compared to others. Splenectomy, which was performed in 39/182 patients (21%), posed a significant risk to experience a severe infectious event (p<0.0001) but offered no protection from bleeding (p=0.42). There was a trend towards less severe infectious episodes after splenectomy in patients with antibiotic prophylaxis (16% vs. 33%, p=0.21). This study presents the clinical course of the largest cohort of XLT patients studied so far. It demonstrates excellent long term survival but reveals high probabilities of severe disease related complications. Splenectomy as a significant risk factor for infectious complications was the only determinant of outcome that could be identified. These observations will aid in better decision making when considering treatment options for these patients.
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Lawson, Kerrie A. "Viruses, vaccines and villains: Highlights of the Xlth International Congress of Virology, Sydney, 1999." Medical Journal of Australia 171, no. 8 (October 1999): 429–32. http://dx.doi.org/10.5694/j.1326-5377.1999.tb123725.x.
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Orr, Robert A. "Report on the Xlth International Congress of Slavists, Bratislava, 31 August - 7 September 1993." Diachronica 11, no. 2 (January 1, 1994): 289–92. http://dx.doi.org/10.1075/dia.11.2.16orr.
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Wang, Nan, Huanfu Zhou, Jianzhang Gong, Guangchao Fan, and Xiuli Chen. "Enhanced Sinterability and Microwave Dielectric Performance of (1 − x)ZnAl2O4-xLi4/3Ti5/3O4 Ceramics." Journal of Electronic Materials 45, no. 6 (March 10, 2016): 3157–61. http://dx.doi.org/10.1007/s11664-016-4437-1.
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GILIANI, S. "Molecular, biochemical and immuno-cytochemical analysis in families with WAS/XLT." Molecular Immunology 35, no. 11-12 (August 1998): 718. http://dx.doi.org/10.1016/s0161-5890(98)90378-9.
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