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101.
Saman K. Hashmi Katie Bergstrom Alison A. Bertuch Jenny M. Despotovic Eyal Muscal Fan Xia Weimin Bi Andrea Marcogliese Rosa Diaz 《Pediatric blood & cancer》2019,66(1)
Neutropenia in pediatric patients can be due to a variety of disorders. We describe two patients who underwent extensive evaluation over many years for arthralgias and moderate neutropenia of unclear etiology. Genetic testing identified a pathogenic variant in PSTPIP1 (proline‐serine‐threonine phosphatase‐interacting protein 1) in both patients. Markedly elevated inflammatory markers and zinc levels confirmed the rare diagnosis of PSTPIP1‐associated myeloid‐related proteinemia inflammatory (PAMI) syndrome, tailoring treatment. Neutropenia is common in patients with PAMI syndrome. Unique mutations seen in PAMI syndrome may account for the specific phenotypic features of this disorder. 相似文献
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Michael D Taylor Jenny R Roberts Ann F Hubbs Mark J Reasor James M Antonini 《Toxicological sciences》2002,67(2):295-302
Pulmonary fibrosis is a serious lung disorder that in certain cases may be difficult to quantify. It was our objective to evaluate the use of laser scanning confocal microscopy (LSCM) in quantifying fibrosis after exposure to amiodarone (AD) and bleomycin (BLM), two commonly used therapeutic drugs known to cause debilitating lung fibrosis in humans. Male F344 rats were intratracheally dosed with AD (6.25 mg/kg on days 0 and 2), BLM (0.25 and 1.0 mg/kg on day 0), or their respective vehicle controls. The right lung was assayed for hydroxyproline, a biochemical measure of collagen, at day 21 for the BLM groups and day 28 for the AD groups. The left lung was fixed, sectioned into blocks, dehydrated, stained with Lucifer yellow (LY, 0.1 mg/ml), and embedded in Spurr resin. The area of lung tissue stained by LY was quantified by LSCM. A fibrotic response in the AD and BLM groups was confirmed by histopathological assessment and a significant increase (p < 0.05) in total right lung hydroxyproline above control values. The area of connective tissue stained by LY of the two drug-treated groups appeared as bright linear bands in the alveolar septae and was significantly increased (p < 0.05) as measured by image analysis when compared with their respective controls. LSCM, with its advanced image analysis system, is an alternate method to quantify fibrotic lung disease. LSCM could be particularly useful when tissue quantity is limited, such as when tissue has been archived from previous studies, or when analyzing human lung biopsy samples for disease diagnosis, where biochemical analysis is difficult. 相似文献
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Thrombopoietin Receptor Agonist Use in Children: Data From the Pediatric ITP Consortium of North America ICON2 Study
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Cindy Neunert MD MSCS Jenny Despotovic DO MS Kristina Haley DO MCR Michele P. Lambert MD Kerri Nottage MD Kristin Shimano MD Carolyn Bennett MD Robert Klaassen MD FRCP Kimo Stine MD Alexis Thompson MD Yves Pastore MD Travis Brown BS Peter W. Forbes MA Rachael F. Grace MD MMSc 《Pediatric blood & cancer》2016,63(8):1407-1413
106.
Stough C Downey LA Lloyd J Silber B Redman S Hutchison C Wesnes K Nathan PJ 《Phytotherapy research : PTR》2008,22(12):1629-1634
While Ayurvedic medicine has touted the cognitive enhancing effects of Bacopa monniera for centuries, there is a need for double-blind placebo-controlled investigations. One hundred and seven healthy participants were recruited for this double-blind placebo-controlled independent group design investigation. Sixty-two participants completed the study with 80% treatment compliance. Neuropsychological testing using the Cognitive Drug Research cognitive assessment system was conducted at baseline and after 90 days of treatment with a special extract of Bacopa monniera (2 x 150 mg KeenMind) or placebo. The Bacopa monniera product significantly improved performance on the 'Working Memory' factor, more specifically spatial working memory accuracy. The number of false-positives recorded in the Rapid visual information processing task was also reduced for the Bacopa monniera group following the treatment period. The current study provides support for the two other published studies reporting cognitive enhancing effects in healthy humans after a 90 day administration of the Bacopa monniera extract. Further studies are required to ascertain the effective dosage range, the time required to attain therapeutic levels and the effects over a longer term of administration. 相似文献
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Hewison J Green JM Ahmed S Cuckle HS Hirst J Hucknall C Thornton JG 《Prenatal diagnosis》2007,27(5):419-430
OBJECTIVES: To compare the attitudes of women from two different ethnic backgrounds to prenatal testing for a range of conditions, and to see if "clusters" of attitudes to different conditions could be identified, for which prenatal testing might be offered as a package. METHODS: Four hundred and twenty white and Pakistani women living in the UK were surveyed about their attitudes to prenatal testing and termination for 30 different fetal conditions. All participants had recently had a baby. RESULTS: Pakistani women held more favourable attitudes to prenatal testing, but less favourable attitudes to termination than their white counterparts. Both groups were most in favour of termination for the same four conditions: anencephaly, trisomy 13 or 18, quadriplegia, Duchenne muscular dystrophy. The rank ordering of conditions was also similar. Only 4% of Pakistani and 2% of white women wanted no prenatal testing at all. Fewer than a quarter of participants would consider a termination of pregnancy for 85% of the conditions, but only 25% of Pakistani women and 6% of white women would consider termination for none of the conditions. More advanced statistical analyses were used to measure how closely associated the 30 conditions were in respondents' answers. These analyses identified a principal dimension, reflecting the overall perceived seriousness of the conditions, and a cluster of severely disabling conditions-anencephaly, trisomy 13 or 18, quadriplegia, Duchenne muscular dystrophy, and severe learning difficulties-which stood out from the rest. Even within this cluster there remained a considerable amount of individual variation. CONCLUSION: Women in the study wanted to make up their own minds about the conditions that to them merited testing or termination. These findings have implications for obtaining informed consent. 相似文献