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Cai, Hongcai, Guowei Zhang, Zechen Yan i Xuejun Shang. "The Effect of Xialiqi Capsule on Testosterone-Induced Benign Prostatic Hyperplasia in Rats". Evidence-Based Complementary and Alternative Medicine 2018 (30.09.2018): 1–9. http://dx.doi.org/10.1155/2018/5367814.
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Benign prostatic hyperplasia (BPH) is common among elderly men, of which inflammation, oxidative stress, proliferative, and apoptotic changes play important roles. Xialiqi (XLQ) capsule, a traditional Chinese herbal formula, is used as a potential drug in treating BPH. This study aims to evaluate the therapeutic effect of XLQ capsule on testosterone propionate- (TP-) induced BPH in rats. Fifty male Sprague-Dawley rats were randomly divided into 5 groups: sham control, BPH model, high and low dose of XLQ, and finasteride as a positive control group. All groups were treated with appropriate drugs/normal saline for 28 consecutive days. Prostate weights were recorded; histopathological changes and content of IL-8, TNF-α, DHT, SOD, MDA, caspase-3, and PCNA of the prostate were determined. Animals with BPH demonstrated significantly increased prostate weights and prostate index, higher levels of IL-8, TNF-α, DHT, MDA, and PCNA, but lower activity of SOD and reduced expression of caspase-3. After treatment with XLQ, significant reductions of prostate weights, prostate index, IL-8, TNF-α, DHT, MDA, and PCNA, increased activity of SOD, and higher level of caspase-3 were shown. The present study indicates that XLQ can effectively prevent the development of TP-induced BPH model through mechanisms of anti-inflammation, antioxidation, antiproliferation, and proapoptosis.
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Yang, Feiya, Lingquan Meng, Panpan Han, Dexi Chen, Mingshuai Wang, Yongguang Jiang, Yanqiao Wu, Yiling Wu i Nianzeng Xing. "New therapy with XLQ ® to suppress chronic prostatitis through its anti‐inflammatory and antioxidative activities". Journal of Cellular Physiology 234, nr 10 (20.02.2019): 17570–77. http://dx.doi.org/10.1002/jcp.28380.
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Vallejo, César. "Trilce XLI‐XLV". Review: Literature and Arts of the Americas 25, nr 45 (styczeń 1991): 77–81. http://dx.doi.org/10.1080/08905769108594327.
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Pouzar, Vladimír, Hana Chodounská, Dalibor Sameš, Pavel Drašar i Miroslav Havel. "Derivatives of 5α-androstan-3α- and 3β-ol with acrylate side chain". Collection of Czechoslovak Chemical Communications 55, nr 5 (1990): 1243–56. http://dx.doi.org/10.1135/cccc19901243.
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Hydroxy derivatives I, II, III, XVII and XX were oxidized to give the respective aldehydes IV, V, VI, XVIII and XXI which were further converted by Wittig-Horner reaction into unsaturated methyl and ethyl esters. Removal of the acetal protecting group in position 3 afforded methylesters X, XXIV and XXXVI and ethyl esters XIV, XXV and XXXVII. Compounds XXIV, XXV, XXXVI and XXXVII were converted into the corresponding hemisuccinates XXVIII, XXIX, XL and XLI and β-D-glucosides XXXII, XXXIII, XLIV and XLV.
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TURCAN, Doina, Lucia ANDRIES, Alexandr DORIF i Victoria SACARA. "Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia". One Health & Risk Management 2, nr 3 (17.06.2021): 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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Luce, T. J., i John Briscoe. "Livius, Ab Urbe Condita libri XLI-XLV". American Journal of Philology 109, nr 3 (1988): 455. http://dx.doi.org/10.2307/294903.
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Summers, G. D. "An aerial Survey of Çevre Kale, Yaraşli". Anatolian Studies 42 (grudzień 1992): 179–206. http://dx.doi.org/10.2307/3642957.
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About 1 km. north of the village of Yaraşlı on a natural hill that forms an extension of Karaca Daǧ, is a large and impressively defended site locally called Çevre Kale (Fig. 1). Pottery from the surface is Imperial Hittite and Phrygian in date. There is later material, Hellenistic to Byzantine, beneath and adjacent to the village. Yaraşlı is a large well watered village in the Kulu district (ilce) of Konya province (il). The map reference is 59-Ie on the 1:200,000 sheet for Katrancı (Harita Genel Müdürlüǧü 1945).The aims of the project were to produce a photographic record of the site from the air, using a helium filled blimp and remote controlled camera, from which plans could be drawn and relationships between the various elements of the site determined. Air photographs revealed outlines of buildings that could not be seen on the ground (Pls XLI–XLV(a)). An overall plan has been drawn (Fig. 3). In some cases it has been possible to draw stone for stone plans (Fig. 5 and Pl. XLIV(b), Fig. 6 and Pl. XLV(a)). The results are much superior to those that could have been achieved by traditional cadastral survey and were obtained in a short time. During the course of the day photographs can be taken in varying light so that changes in shadow highlight different features.
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Hannan, Khyle M. "Book Review: Encyclopedia of African American Business: Updated and Revised Edition, 2nd ed." Reference & User Services Quarterly 58, nr 1 (10.10.2018): 62. http://dx.doi.org/10.5860/rusq.58.1.6853.
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The African American contribution to business and economic institutions in America is significant and spans “the period from 18th-century America to the present” (xlv). This encyclopedia is unique in being a reference work dedicated solely to exploring this contribution and its impact. In the preface, the editor, Jessie Carney Smith, Dean of the Library and Camille Cosby Distinguished Chair in the Humanities at Fisk University in Nashville, TN, mentions, “one subject that has been met with somewhat limited appeal is African American books on businesses, merely because the focus is narrow and unlike the wider scope of literary works” (xli). This explains the dearth of similar works in the field. It is this gap that motivated her to first publish this work in 2006 and prompted the publisher to reissue it eleven years later in 2017.
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Blundell, Michael P., Austen Worth, Gerben Bouma i Adrian J. Thrasher. "The Wiskott-Aldrich Syndrome: The Actin Cytoskeleton and Immune Cell Function". Disease Markers 29, nr 3-4 (2010): 157–75. http://dx.doi.org/10.1155/2010/781523.
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Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency characterised by immune dysregulation, microthrombocytopaenia, eczema and lymphoid malignancies. Mutations in the WAS gene can lead to distinct syndrome variations which largely, although not exclusively, depend upon the mutation. Premature termination and deletions abrogate Wiskott-Aldrich syndrome protein (WASp) expression and lead to severe disease (WAS). Missense mutations usually result in reduced protein expression and the phenotypically milder X-linked thrombocytopenia (XLT) or attenuated WAS [1-3]. More recently however novel activating mutations have been described that give rise to X-linked neutropenia (XLN), a third syndrome defined by neutropenia with variable myelodysplasia [4-6]. WASP is key in transducing signals from the cell surface to the actin cytoskeleton, and a lack of WASp results in cytoskeletal defects that compromise multiple aspects of normal cellular activity including proliferation, phagocytosis, immune synapse formation, adhesion and directed migration.
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Thrasher, Adrian J. "New insights into the biology of Wiskott-Aldrich syndrome (WAS)". Hematology 2009, nr 1 (1.01.2009): 132–38. http://dx.doi.org/10.1182/asheducation-2009.1.132.
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Abstract The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disease with a characteristic clinical phenotype that includes thrombocytopenia with small platelets, eczema, recurrent infections due to immunodeficiency, and an increased incidence of autoimmune manifestations and malignancies. The identification of the molecular defect in the WAS gene has broadened the clinical spectrum of disease to include chronic or intermittent X-linked thrombocytopenia (XLT), a relatively mild form of WAS, and X-linked neutropenia (XLN) due to an arrest of myelopoiesis. The pathophysiological mechanisms relate to defective actin polymerization in hematopoietic cells as a result of deficient or dysregulated activity of the WAS protein (WASp). The severity of disease is variable and somewhat predictable from genotype. Treatment strategies therefore range from conservative through to early definitive intervention by using allogeneic hematopoietic stem cell transplantation and potentially somatic gene therapy. All aspects of the condition from clinical presentation to molecular pathology and basic cellular mechanisms have been reviewed recently.
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Brenišínová, Monika. "Bibliografía de Ibero-Americana Pragensia, XLI-XLV, 2007-2017". IBERO-AMERICANA PRAGENSIA 45, nr 2 (29.05.2018): 185–92. http://dx.doi.org/10.14712/24647063.2017.22.
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Schmid, Jana Pachlopnik, Danielle Canioni, Despina Moshous, Fabien Touzot, Nizar Mahlaoui, Fabian Hauck, Hirokazu Kanegane i in. "Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)". Blood 117, nr 5 (3.02.2011): 1522–29. http://dx.doi.org/10.1182/blood-2010-07-298372.
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Abstract X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A (also named SAP), whereas mutations in the gene XIAP underlie XLP type 2 (XLP-2). Here, a comparison of the clinical phenotypes associated with XLP-1 and XLP-2 was performed in cohorts of 33 and 30 patients, respectively. HLH (XLP-1, 55%; XLP-2, 76%) and hypogammaglobulinemia (XLP-1, 67%; XLP-2, 33%) occurred in both groups. Epstein-Barr virus infection in XLP-1 and XLP-2 was the common trigger of HLH (XLP-1, 92%; XLP-2, 83%). Survival rates and mean ages at the first HLH episode did not differ for both groups, but HLH was more severe with lethal outcome in XLP-1 (XLP-1, 61%; XLP-2, 23%). Although only XLP-1 patients developed lymphomas (30%), XLP-2 patients (17%) had chronic hemorrhagic colitis as documented by histopathology. Recurrent splenomegaly often associated with cytopenia and fever was preferentially observed in XLP-2 (XLP-1, 7%; XLP-2, 87%) and probably represents minimal forms of HLH as documented by histopathology. This first phenotypic comparison of XLP subtypes should help to improve the diagnosis and the care of patients with XLP conditions.
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Roy, Sunetra, Abinadabe J. de Melo, Yao Xu, Satish K. Tadi, Aurélie Négrel, Eric Hendrickson, Mauro Modesti i Katheryn Meek. "XRCC4/XLF Interaction Is Variably Required for DNA Repair and Is Not Required for Ligase IV Stimulation". Molecular and Cellular Biology 35, nr 17 (22.06.2015): 3017–28. http://dx.doi.org/10.1128/mcb.01503-14.
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The classic nonhomologous end-joining (c-NHEJ) pathway is largely responsible for repairing double-strand breaks (DSBs) in mammalian cells. XLF stimulates the XRCC4/DNA ligase IV complex by an unknown mechanism. XLF interacts with XRCC4 to form filaments of alternating XRCC4 and XLF dimers that bridge DNA endsin vitro, providing a mechanism by which XLF might stimulate ligation. Here, we characterize two XLF mutants that do not interact with XRCC4 and cannot form filaments or bridge DNAin vitro. One mutant is fully sufficient in stimulating ligation by XRCC4/Lig4in vitro; the other is not. This separation-of-function mutant (which must function as an XLF homodimer) fully complements the c-NHEJ deficits of some XLF-deficient cell strains but not others, suggesting a variable requirement for XRCC4/XLF interaction in living cells. To determine whether the lack of XRCC4/XLF interaction (and potential bridging) can be compensated for by other factors, candidate repair factors were disrupted in XLF- or XRCC4-deficient cells. The loss of either ATM or the newly described XRCC4/XLF-like factor, PAXX, accentuates the requirement for XLF. However, in the case of ATM/XLF loss (but not PAXX/XLF loss), this reflects a greater requirement for XRCC4/XLF interaction.
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Musilli, Stefania, Vincent Abramowski, Benoit Roch i Jean-Pierre de Villartay. "An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system". Journal of Biological Chemistry 295, nr 8 (8.01.2020): 2398–406. http://dx.doi.org/10.1074/jbc.ac119.010924.
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Repair of DNA double-strand breaks by the nonhomologous end joining pathway is central for proper development of the adaptive immune system. This repair pathway involves eight factors, including XRCC4-like factor (XLF)/Cernunnos and the paralog of XRCC4 and XLF, PAXX nonhomologous end joining factor (PAXX). Xlf−/− and Paxx−/− mice are viable and exhibit only a mild immunophenotype. However, mice lacking both PAXX and XLF are embryonic lethal because postmitotic neurons undergo massive apoptosis in embryos. To decipher the roles of PAXX and XLF in both variable, diversity, and joining recombination and immunoglobulin class switch recombination, here, using Cre/lox-specific deletion to prevent double-KO embryonic lethality, we developed two mouse models of a conditional Xlf KO in a Paxx−/− background. Cre expressed under control of the iVav or CD21 promoter enabled Xlf deletion in early hematopoietic progenitors and splenic mature B cells, respectively. We demonstrate the XLF and PAXX interplay during variable, diversity, and joining recombination in vivo but not during class switch recombination, for which PAXX appeared to be fully dispensable. Xlf/Paxx double KO in hematopoietic progenitors resulted in a shorter lifespan associated with onset of thymic lymphomas, revealing a genome caretaking function of XLF/PAXX.
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Westerberg, Lisa S., Parool Meelu, Marisa Baptista, Michelle A. Eston, David A. Adamovich, Vinicius Cotta-de-Almeida, Brian Seed i in. "Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes". Journal of Experimental Medicine 207, nr 6 (31.05.2010): 1145–52. http://dx.doi.org/10.1084/jem.20091245.
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X-linked neutropenia (XLN) is caused by activating mutations in the Wiskott-Aldrich syndrome protein (WASP) that result in aberrant autoinhibition. Although patients with XLN appear to have only defects in myeloid lineages, we hypothesized that activating mutations of WASP are likely to affect the immune system more broadly. We generated mouse models to assess the role of activating WASP mutations associated with XLN (XLN-WASP) in lymphocytes. XLN-WASP is expressed stably in B and T cells and induces a marked increase in polymerized actin. XLN-WASP–expressing B and T cells migrate toward chemokines but fail to adhere normally. In marked contrast to WASP-deficient cells, XLN-WASP–expressing T cells proliferate normally in response to cell-surface receptor activation. However, XLN-WASP–expressing B cells fail to proliferate and secrete lower amounts of antibodies. Moreover, XLN-WASP expression in lymphocytes results in modestly increased apoptosis associated with increased genomic instability. These data indicate that there are unique requirements for the presence and activation status of WASP in B and T cells and that WASP-activating mutations interfere with lymphocyte cell survival and genomic stability.
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Mannhalter, Christine, M. Fischer i W.-M. Halbmayer. "Faktor-XII-Mangel und Thrombophilie". Hämostaseologie 13, nr 04 (lipiec 1993): 157–60. http://dx.doi.org/10.1055/s-0038-1655230.
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ZusammenfassungDer F-Xll-Mangel wird autosomal rezessiv vererbt und existiert als quantitativer oder qualitativer, dysfunktioneller Mangel. Milde (heterozygote) F-Xll-Mängel weisen meist eine nur geringfügige oder sogar keine Verlängerung der aPTT auf und können somit leicht übersehen werden. Obwohl schwere (homozygote) F-Xll-Mängel deutlich verlängerte aPTT-Zeiten zeigen, wird in Zusammenhang mit dem F-Xll-Mangel üblicherweise keine Blutungsneigung beobachtet, sondern die Patienten neigen im Gegenteil - wie auch John Hageman - zu thromboembolischen Geschehen. Bei Patienten mit rezidivierenden Venenthrombosen wurde eine F-Xll-Mangel-Inzidenz von 8-10% berichtet, und in Patientengruppen’ mit arteriellen Thromboembolien und/oder Herzinfarkt wurde der F-Xll-Mangel sogar noch häufiger beobachtet.
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Gew, Lai Ti, i Misni Misran. "Mixed Langmuir Monolayers of C18 Fatty Acids: Effect of Degree of Saturation". Materials Science Forum 990 (maj 2020): 117–23. http://dx.doi.org/10.4028/www.scientific.net/msf.990.117.
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The degree of unsaturation of hydrocarbon chains in the lipid diversity of biological membrane will greatly influence the membrane protein function. Lipid-lipid interactions in the membrane domain are crucial in the development of novel liposomal nanocarrier as the stability and function of liposomes are important points to be considered. The embedded therapeutic proteins are dependent on lipid membrane composition and their physical properties. In this study, we elucidated lipid-lipid interactions in the biological membrane domain with energetic quantitative data by mixing any two C18 fatty acids namely, stearic acid (SA), oleic acid (L1), linoleic acid (L2), and linolenic acid (L3) in Langmuir-Blodgett trough with water subphase. In general, SA has a saturated hydrocarbon chain; meanwhile, L1, L2 and L3 have increasing degree of unsaturation in their respective hydrocarbon chain. The tail-to-tail interactions were studied by the combinations of SA/L1, SA/L2, SA/L3, L1/L2, L1/L3 and L2/L3 at various mole ratios ranging from 9:1, 8:2, 7:3 ... to 1:9. Among the mixtures of C18 fatty acids, L2/L3 is considered as the energetically stable at the optimum amount of XL2 and XL3 = 0.5 respectively, at all discrete surface pressure.
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Gago-Fuentes, Raquel, i Valentyn Oksenych. "Non-Homologous End Joining Factors XLF, PAXX and DNA-PKcs Maintain the Neural Stem and Progenitor Cell Population". Biomolecules 11, nr 1 (28.12.2020): 20. http://dx.doi.org/10.3390/biom11010020.
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Non-homologous end-joining (NHEJ) is a major DNA repair pathway in mammalian cells that recognizes, processes and fixes DNA damage throughout the cell cycle and is specifically important for homeostasis of post-mitotic neurons and developing lymphocytes. Neuronal apoptosis increases in the mice lacking NHEJ factors Ku70 and Ku80. Inactivation of other NHEJ genes, either Xrcc4 or Lig4, leads to massive neuronal apoptosis in the central nervous system (CNS) that correlates with embryonic lethality in mice. Inactivation of either Paxx, Mri or Dna-pkcs NHEJ gene results in normal CNS development due to compensatory effects of Xlf. Combined inactivation of Xlf/Paxx, Xlf/Mri and Xlf/Dna-pkcs, however, results in late embryonic lethality and high levels of apoptosis in CNS. To determine the impact of NHEJ factors on the early stages of neurodevelopment, we isolated neural stem and progenitor cells from mouse embryos and investigated proliferation, self-renewal and differentiation capacity of these cells lacking either Xlf, Paxx, Dna-pkcs, Xlf/Paxx or Xlf/Dna-pkcs. We found that XRCC4-like factor (XLF), DNA-dependent protein kinase catalytic subunit (DNA-PKcs) and paralogue of XRCC4 and XLF (PAXX) maintain the neural stem and progenitor cell populations and neurodevelopment in mammals, which is particularly evident in the double knockout models.
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Avagyan, Serine, Michael Churchill, Kenta Yamamoto, Jennifer L. Crowe, Chen Li, Brian J. Lee, Tian Zheng, Siddhartha Mukherjee i Shan Zha. "Hematopoietic stem cell dysfunction underlies the progressive lymphocytopenia in XLF/Cernunnos deficiency". Blood 124, nr 10 (4.09.2014): 1622–25. http://dx.doi.org/10.1182/blood-2014-05-574863.
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Key Points XLF-deficient mice recapitulate the lymphocytopenia of XLF-deficient patients. Premature aging of hematopoietic stem cells underlies the severe and progressive lymphocytopenia in XLF-deficient mice.
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Chen, Bo-Ruei, Annabel Quinet, Andrea K. Byrum, Jessica Jackson, Matteo Berti, Saravanabhavan Thangavel, Andrea L. Bredemeyer i in. "XLF and H2AX function in series to promote replication fork stability". Journal of Cell Biology 218, nr 7 (23.05.2019): 2113–23. http://dx.doi.org/10.1083/jcb.201808134.
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XRCC4-like factor (XLF) is a non-homologous end joining (NHEJ) DNA double strand break repair protein. However, XLF deficiency leads to phenotypes in mice and humans that are not necessarily consistent with an isolated defect in NHEJ. Here we show that XLF functions during DNA replication. XLF undergoes cell division cycle 7–dependent phosphorylation; associates with the replication factor C complex, a critical component of the replisome; and is found at replication forks. XLF deficiency leads to defects in replication fork progression and an increase in fork reversal. The additional loss of H2AX, which protects DNA ends from resection, leads to a requirement for ATR to prevent an MRE11-dependent loss of newly synthesized DNA and activation of DNA damage response. Moreover, H2ax−/−:Xlf−/− cells exhibit a marked dependence on the ATR kinase for survival. We propose that XLF and H2AX function in series to prevent replication stress induced by the MRE11-dependent resection of regressed arms at reversed replication forks.
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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 i James B. Bussel. "Effects Of Eltrombopag On Thrombocytopenia, Platelet Function and Bleeding In Patients With Wiskott-Aldrich Syndrome/X-Linked Thrombocytopenia". Blood 122, nr 21 (15.11.2013): 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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Veilleux, Louis-Nicolas, Moira S. Cheung, Francis H. Glorieux i Frank Rauch. "The Muscle-Bone Relationship in X-Linked Hypophosphatemic Rickets". Journal of Clinical Endocrinology & Metabolism 98, nr 5 (1.05.2013): E990—E995. http://dx.doi.org/10.1210/jc.2012-4146.
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Context: We recently found that patients with X-linked hypophosphatemic rickets (XLH) have a muscle function deficit in the lower extremities. As muscle force and bone mass are usually closely related, we hypothesized that patients with XLH could also have a bone mass deficit in the lower extremities. Objective: The study objective was to assess the muscle-bone relationship in the lower extremities of patients with XLH. Setting: The study was carried out in the outpatients department of a pediatric orthopedic hospital. Patients and Other Participants: Thirty individuals with XLH (6 to 60 y; 9 male patients) and 30 age- and gender-matched controls participated. Main Outcome Measures: Calf muscle size and density as well as tibia bone mass and geometry were assessed by peripheral quantitative computed tomography. Muscle function was evaluated as peak force in the multiple 2-legged hopping test. Results: Muscle force was significantly lower in XLH patients than in controls but muscle cross-sectional area did not differ (after adjustment for tibia length). External bone size, expressed as total bone cross-sectional area, was higher in the XLH group than in controls. The XLH cohort also had statistically significantly higher bone mineral content. Conclusions: Patients with XLH have increased bone mass and size at the distal tibia despite muscle function deficits.
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Sharifi, Reza, Joanna C. Sinclair, Kimberly C. Gilmour, Peter D. Arkwright, Christine Kinnon, Adrian J. Thrasher i H. Bobby Gaspar. "SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease". Blood 103, nr 10 (15.05.2004): 3821–27. http://dx.doi.org/10.1182/blood-2003-09-3359.
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Abstract Cytotoxic T cells (CTLs) and natural killer cells play a major role in the immune response to Epstein-Barr virus (EBV) infection. In X-linked lymphoproliferative (XLP) disease, a severe immunodeficiency, immunodysregulatory phenomena are observed following EBV infection, suggesting that defects exist in these effector populations. The gene defective in XLP is SAP (signaling lymphocytic activation molecule [SLAM]–associated protein), an adaptor protein that mediates signals through SLAM and other immunoglobulin superfamily receptors including 2B4. We generated EBV-specific T-cell lines from controls and XLP patients and examined CTL function in response to different stimuli. We show that XLP patients can generate EBV–T-cell lines that are phenotypically similar to those from controls. XLP patient EBV–T-cell lines showed a significant decrease in interferon-gamma (IFN-γ) production in response to 2B4 and autologous EBV-transformed lymphoblastoid cell line (LCL) stimulation but not in response to SLAM. Furthermore, XLP EBV–T-cell lines demonstrated markedly decreased cytotoxic activity against autologous LCLs. By retroviral gene transfer of the SAP gene into XLP EBV–T-cell lines, we show reconstitution of IFN-γ production and of cytotoxic activity confirming SAP-dependent defects. These studies demonstrate that in XLP the lack of SAP affects specific signaling pathways resulting in severe disruption of CTL function.
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Gontcharenko, Victoria E., Mikhail A. Kiskin, Vladimir D. Dolzhenko, Vladislav M. Korshunov, Ilya V. Taydakov i Yury A. Belousov. "Mono- and Mixed Metal Complexes of Eu3+, Gd3+, and Tb3+ with a Diketone, Bearing Pyrazole Moiety and CHF2-Group: Structure, Color Tuning, and Kinetics of Energy Transfer between Lanthanide Ions". Molecules 26, nr 9 (1.05.2021): 2655. http://dx.doi.org/10.3390/molecules26092655.
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Three novel lanthanide complexes with the ligand 4,4-difluoro-1-(1,5-dimethyl-1H-pyrazol-4-yl)butane-1,3-dione (HL), namely [LnL3(H2O)2], Ln = Eu, Gd and Tb, were synthesized, and, according to single-crystal X-ray diffraction, are isostructural. The photoluminescent properties of these compounds, as well as of three series of mixed metal complexes [EuxTb1-xL3(H2O)2] (EuxTb1-xL3), [EuxGd1-xL3(H2O)2] (EuxGd1-xL3), and [GdxTb1-xL3(H2O)2] (GdxTb1-xL3), were studied. The EuxTb1-xL3 complexes exhibit the simultaneous emission of both Eu3+ and Tb3+ ions, and the luminescence color rapidly changes from green to red upon introducing even a small fraction of Eu3+. A detailed analysis of the luminescence decay made it possible to determine the observed radiative lifetimes of Tb3+ and Eu3+ and estimate the rate of excitation energy transfer between these ions. For this task, a simple approximation function was proposed. The values of the energy transfer rates determined independently from the luminescence decays of terbium(III) and europium(III) ions show a good correlation.
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Miller, Kyle, Michael Silvey, Derek Logsdon, Frederick Balch, Ndona Nsumu, Inna Sokolovsky, Margaret Gibson, Chengpeng Bi, Daniel P. Heruth i Robert A. White. "The Xla (X-linked anemia) Mouse: A Transient Neonatal Anemia Caused by a Gata1 Splicing Mutation",. Blood 118, nr 21 (18.11.2011): 3162. http://dx.doi.org/10.1182/blood.v118.21.3162.3162.
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Abstract Abstract 3162 The Xla (X-linked anemia) mutant mouse was generated by N-ethyl-N-nitrosourea (ENU) mutagenesis and results in a severe and transient neonatal anemia. Xla/+ females exhibit severe anemia with 50% the level of red blood cell number, hematocrit and hemoglobin. Male Xla mice die in utero at 10.5 days gestation. The neonatal anemia observed in Xla/+ female pups is resolved by weaning age at 3 weeks by which time the mice present with a normal hematological phenotype. It is unknown how the neonatal anemia in Xla/+ females is alleviated. Previously, we mapped the Xla locus to the proximal end of the X chromosome near candidate gene Gata1 which showed no change in the coding sequence of GATA1 protein. Now we report the identification of a Gata1 mutation in Xla mice that results in an mRNA splicing defect. A nucleotide change (G to A) was identified 5 base pairs downstream of Exon 1E in intron 1 of the Xla Gata1 gene and results in the lack of incorporation of Exon 1E in the Gata1 mRNA expressed from the mutant locus. Therefore, in some erythroid lineage cells in Xla/+ mice, the normal 1E exon of Gata1 mRNA is replaced by Exon 1Eb/c which is known not to impact erythropoeisis since no GATA1 protein is made by this mRNA due to its inability to bind to ribosomes. These data show the Xla mouse results from a single nucleotide change impacting the normal splicing of the Gata1 gene. A second goal of this study was to understand why Xla/+ mice exhibit the neonatal transient anemia. A contributing factor is X chromosome inactivation which occurs in female mice during development. The short-term anemia in Xla mice was thought to be due to clonal selection of erythroid lineage cells characterized by the expression of GATA1 protein from the active X chromosome expressing only from the wild type Gata1 locus. Using an X-linked gene expressed in red blood cells (Pgk1, phosphoglycerate kinase 1) that varies between Xla mice and a wild derived strain, CAST/Ei, we examined the active state of the X chromosomes based on the expression of Pgk1 RNA in reticulocytes from hybrid Xla mice generated by breeding of these different strains. Examining expression of the X-linked Pgk1 SNP variant in the RNA of reticulocytes from hybrid Xla/+ mice reveals red blood cells are generated from two types of erythroid lineage cells. Pgk1 SNP RT-PCR analysis reveals that red blood cells not only derive from erythroid progenitors with the active X chromosome carrying the wild type Gata1 gene but also red blood cells are produced by erythroid lineage cells expressing the Xla mutant Gata1 mRNA on the active X chromosome (which does not make GATA1 protein). Therefore, some Xla erythroid cells derive from progenitors which express Gata1 transcripts using Exon 1Eb/c that does not stimulate erythropoiesis due to lack of GATA1 protein. The question is how these erythroid precursors generate normal red blood cells without the production of GATA1 protein. We hypothesize there is a developmentally expressed compensatory gene or pathway replacing GATA1 expression in GATA1-lacking erythroid precursors and required for the production of red blood cells in Xla mice. Analysis is underway to identify a potential novel gene or pathway impacting erythropoiesis in these mutant mice. Disclosures: No relevant conflicts of interest to declare.
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Sankararaman, Senthilkumar, Rosario Maria Riel-Romero, Majed Jeroudi i Eduardo Gonzalez-Toledo. "Epstein-Barr virus induced hemophagocytic lymphohistiocytosis in X-linked lymphoproliferative disease". Journal of Neurosciences in Rural Practice 5, nr 02 (kwiecień 2014): 171–74. http://dx.doi.org/10.4103/0976-3147.131669.
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ABSTRACTX-linked lymphoproliferative disease (XLP) is a rare, often fatal genetic disorder characterized by extreme vulnerability to Epstein-Barr virus (EBV). EBV-induced hemophagocytic lymphohistiocytosis (HLH) is a known presentation in XLP. In EBV-induced HLH in XLP, the brain imaging findings in the acute phase include a non specific pattern. In this report, we highlight the magnetic resonance imaging and magnetic resonance spectroscopy findings in a child with EBV induced HLH in XLP.
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Xue, Pu, J. P. Wang i Xiao Ming Tao. "Strain Sensing Behaviour of PPy-Coated XLA Fibers". Applied Mechanics and Materials 142 (listopad 2011): 125–28. http://dx.doi.org/10.4028/www.scientific.net/amm.142.125.
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This study developed an electrically conductive XLA fiber, which can sense strain variation under extension. The conductive XLA fiber was prepared by chemical vapor deposition (CVD) after plasma surface treatment. The strain sensing behavior of the PPy-coated XLA fibers was studied under tensile loading. It is found that the sensitivity of XLA fiber bases is over 145, and its working range is from 10% to 110%, showing it excellent in strain sensing behavior.
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Zhukouskaya, Volha V., Anya Rothenbuhler, Annamaria Colao, Carolina Di Somma, Peter Kamenický, Séverine Trabado, Dominique Prié i in. "Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia". Endocrine Connections 9, nr 2 (luty 2020): 144–53. http://dx.doi.org/10.1530/ec-19-0481.
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Background/aim X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to a link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH. Patients/methods We studied 172 XLH-children 5–20 years of age (113 girls/59 boys). Anthropometric parameters (weight, height, and BMI) were collected at birth and during follow-up at mean ages of 5.3, 8.2, 11.3, and 15.9 years (groups 1, 2, 3, and 4, respectively). In each group, subjects were classified based on International Obesity Taskforce (IOTF) cut off values of BMI for age and sex as overweight or obese (IOTF 25–30 or ≥30 kg/m2, respectively). Results In each age-group, almost 1/3 of XLH-patients were classified as overweight or obese (29.4, 28.7, 27.5, and 36.7% in groups 1, 2, 3, and 4, respectively). Children without a XLH-family history had higher BMI-IOTF at every point of follow-up, compared to those with positive XLH-family history. Similarly, higher BMI-IOTF was significantly associated with treatment duration (23.3 ± 4.4 vs 23.8 ± 3.8 vs 25.2 ± 4.5 kg/m2, for subjects with treatment duration of <5, 5–10 and >10 years, respectively, P for trend = 0.025). Multiple regression analysis confirmed an association of treatment duration and lack of XLH-family history with higher BMI-IOTF. Conclusion One out of three of XLH-children have phenotypically unfavourable metabolic profile expressed as increased prevalence of overweight or obesity in comparison to general population. Both the lack of XLH family history and the duration of treatment increase the risk of higher BMI-IOTF. BMI should be carefully monitored in children, and later in adults, with XLH.
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Ozturk, Can, Sumer Sutcuoglu, Berna Atabay i Afig Berdeli. "X-Linked Agammaglobulinemia Presenting with Secondary Hemophagocytic Syndrome: A Case Report". Case Reports in Medicine 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/742795.
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Introduction. Coincidence of X-linked agammaglobulinemia (XLA) and secondary hemophagocytic syndrome (sHS) is atypical. Both diseases are rare and pathogenesis of the latter one is not clearly known.Case Presentation. A 5-year-old boy was diagnosed both with XLA and sHS. However, in his history, he did not have severe and recurrent infections. Bruton tyrosine kinase (BTK) gene mutation was present (c.1581_1584delTTTG). To the best of the authors’ knowledge, coincidence of XLA and sHS had not been reported in the literature before.Conclusion. Patients with XLA are extremely vulnerable to recurrent bacterial infections. The diagnosis of XLA with sHS at any time of life is both an interesting and challenging situation without history of recurrent bacterial infections.
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Zhu, Zhi Wen, Xin You Huang, Hai Tang Hua i Yan Li. "Study on the Property of Ba0.85Ca0.15Ti0.9Zr0.1O3 Lead-Free Piezoelectric Ceramics Doped with Li2CO3". Advanced Materials Research 549 (lipiec 2012): 651–54. http://dx.doi.org/10.4028/www.scientific.net/amr.549.651.
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Ba0.85Ca0.15Ti0.9Zr0.1O3-xLi2CO3 lead-free piezoelectric ceramics (abbreviated as BCZT-xLi) were prepared by conventional solid state reaction method. The microstructure, piezoelectric properties and dielectric properties were studied for BCZT-xLi samples doped with different Li2CO3 content(x= 0, 0.05, 0.1 0.2 0.3, 0.4wt. %). The results show that the piezoelectric constant(d33), planar electron mechanical coupling coefficient(kp) and thickness electron mechanical(kt) of BCZ-T-xLi ceramics increase firstly and decreases subsequently with increasing of Li+ doping amount, the dielectric loss(tanδ) of BCZT-xLi ceramics decreases firstly and then increases at the same time while Li+ doping amount increases. But the r-elative permittivity (εr) of BCZT-xLi ceramics increases all the time. With the in-creasing of the amount of Li2CO3 doped the grain size of BCZT-Li ceramic first increases and then decreases. The BCZT-xLi ceramics display the optimum properties (d33=83, tanδ=0.035, εr=2020, kp=0.41, kt=0.046) while Li2CO3 doped amount is 0.20wt. %.
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Simpson, Christine A., Anna Maria Santoro, Thomas O. Carpenter i Karl Leonard Insogna. "Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia". Journal of the Endocrine Society 5, Supplement_1 (1.05.2021): A27. http://dx.doi.org/10.1210/jendso/bvab048.052.
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Abstract Individuals with X-linked hypophosphatemia (XLH) are at greater risk for being overweight or obese. It has generally been assumed that the primary reason for this is impaired mobility due to accelerated osteoarthritis, abnormal biomechanics of ambulation, pseudofractures and enthesopathy. These known complications limit the ability of patients with XLH to engage in regular aerobic exercise. Whether there are underlying metabolic abnormalities that also put patients with XLH at greater risk for excessive weight gain is largely unknown. A recent French study1 confirmed that patients with XLH, especially adolescents, have a predilection to obesity. Evidence suggests that elevated circulating levels of fibroblast growth factor 23 (FGF23) are associated with an increase in fat mass and dyslipidemia in elderly normal individuals. Whether the elevated levels of FGF23 in XLH play a direct pathogenic role in the risk for excessive weight gain in XLH is unclear. Lipocalin (LCN2) has recently received considerable attention as a factor regulating energy consumption and specifically is postulated to be anorexigenic and improve insulin sensitivity. We therefore measured circulating levels of LCN2, leptin and insulin in 32 patients with XLH, ages 2–60 y.o., all of whom were being treated with burosumab and 40 Cntrl subjects, matched for age, sex, and BMI or weight/height z-score for children and adolescents. Serum was obtained from excess sample from clinical 25-hydroxy vitamin D testing in our laboratory. All patients were de-identified for the study. In 7 adults with XLH 20–60 y.o. (mean age 35) and 11 Cntrls (mean age 41), mean values for BMI, LCN2, leptin and insulin levels in the two group were as follows, (XLH vs. Cntrl); BMI: 36 vs. 34 kg/m2, LCN2: 83 vs. 108 ng/mL, leptin: 26 vs. 39 ng/mL, insulin: 19 vs. 20 µIU/mL. The pediatric patients were separated into two groups: 2–10 and 11–18 y.o.. In the 2–10 y.o. group the mean values were (XLH vs. Cntrl); age: 5.5 y.o. vs. 5.8 y.o., weight/height Z-score: 0.8 vs. 1.1, LCN2: 47 vs. 60, leptin: 2.2. vs. 6.7, and insulin: 8.4 vs. 13. In the 11–18 group, mean values were (XLH vs. Cntrl); age: 14 y.o. vs. 14 y.o., weight/height Z-score: 1.0 vs. 1.2, LCN2: 65 vs. 105, leptin: 24 vs.19, and insulin: 17 vs. 48. In all age groups LCN2 was lower in the patients with XLH than Cntrls and this difference reached significance in the adolescents with XLH (p=0.04). No other parameters were significantly different among the groups. Since all patients with XLH were treated with burosumab it is unlikely that a direct effect of excess FGF23 production explains this finding. We conclude that reduced expression of lipocalin in adolescents with XLH may contribute to their risk for obesity.1Lecoq et.al. Obesity and Impaired Glucose Metabolism in Adult Patients with X-Linked Hypophosphatemia, J, Endo. Soc. 2020 https://doi.org/10.1210/jendso/bvaa046.1355
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Mao, Meng, Thomas O. Carpenter, Michael P. Whyte, Alison Skrinar, Chao-Yin Chen, Javier San Martin i Alan D. Rogol. "Growth Curves for Children with X-linked Hypophosphatemia". Journal of Clinical Endocrinology & Metabolism 105, nr 10 (28.07.2020): 3243–49. http://dx.doi.org/10.1210/clinem/dgaa495.
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Abstract Context We characterized linear growth in infants and children with X-linked hypophosphatemia (XLH). Objective Provide linear growth curves for children with XLH from birth to early adolescence. Design Data from 4 prior studies of XLH were pooled to construct growth curves. UX023-CL002 was an observational, retrospective chart review. Pretreatment data were collected from 3 interventional trials: two phase 2 trials (UX023-CL201, UX023-CL205) and a phase 3 trial (UX023-CL301). Setting Medical centers with expertise in treating XLH. Patients Children with XLH, 1-14 years of age. Intervention None. Main Outcome Measure Height-for-age linear growth curves, including values for the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles for children with XLH compared to population norms. Results A total of 228 patients (132 girls, 96 boys) with 2381 height measurements were included. Nearly all subjects (> 99%) reported prior management with supplementation therapy. Compared to the Center for Disease Control and Prevention growth curves, boys at age 3 months, 6 months, 9 months, 1 year, and 2 years had median height percentiles of 46%, 37%, 26%, 18%, and 5%, respectively; for girls the median height percentiles were 52%, 37%, 25%, 18%, and 7%, respectively. Annual growth in children with XLH fell below that of healthy children near 1 year of age and progressively declined during early childhood, with all median height percentiles < 8% between 2 and 12 years old. Conclusion Children with XLH show decreased height gain by 1 year of age and remain below population norms thereafter. These data will help evaluate therapeutic interventions on linear growth for pediatric XLH.
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Tabata, Yasuhiro, Joyce Villanueva, Susan M. Lee, Kejian Zhang, Hirokazu Kanegane, Toshio Miyawaki, Janos Sumegi i Alexandra H. Filipovich. "Rapid Detection of SAP Deficiency in Cytotoxic Lymphocytes from Patients with X-Linked Lymphoproliferative Disease and Their Family Members." Blood 104, nr 11 (16.11.2004): 3846. http://dx.doi.org/10.1182/blood.v104.11.3846.3846.
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Abstract Background: X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency, which is characterized by an extreme susceptibility to Epstein-Barr virus (EBV). In half of the XLP patients, primary EBV infection can be fatal with explosive activation and proliferation of lymphocytes in many organs, which leads to fluminant hepatitis and bone marrow failure with hemophagocytosis. Mutations in the SH2D1A gene, which encodes the SAP protein, have been described in a proportion of patients with the clinical syndrome of XLP. The diagnosis of XLP is still difficult given its clinical heterogeneity, and the lack of a readily available rapid diagnostic laboratory test, particularly in cases without a family history of XLP. XLP should always be a consideration in males with EBV-associated hemophagocytic lymphohistiocytosis (EBV-HLH). Methods: Four-color flow cytometric analysis was used to establish normal patterns of SAP expression for control subjects, and patterns of SAP staining in cytotoxic lymphocytes (CD8+ T cells, CD56+ T cells and natural killer [NK] cells). This assay was used to study patients with clinical syndromes consistent with XLP, and in some cases; their family members. Results: 6 patients with XLP confirmed by detection of mutations in the coding regions of SH2D1A showed lack of intracellular SAP in all cytotoxic cell types; one was tested presymptomatically. Carriers of SH2D1A mutations tested (mother and sister) had decreased SAP staining patterns below normal levels. Eleven males with clinical syndromes consistent with XLP, predominantly EBV-HLH who were demonstrated to have normal or increased perforin expression were also studied. All patients showed normal SAP expression including one case with a convincing X-linked family history; all were subsequently shown to have no mutations in SH2D1A. Additionally, one asymptomatic adult male with an intronic mutation previously published as causing XLP was found to have normal SAP expression. Conclusions: Four-color flow cytometry provides diagnostic information that may speed the identification of this fatal disease, differentiating it from other EBV-HLH. We also suspect it will prove useful in substantiating or excluding disease-causing genetic variants in the SH2D1A gene.
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Wohlfarth, Ariane, Shaokun Pang, Mingshe Zhu, Adarsh S. Gandhi, Karl B. Scheidweiler, Hua-fen Liu i Marilyn A. Huestis. "First Metabolic Profile of XLR-11, a Novel Synthetic Cannabinoid, Obtained by Using Human Hepatocytes and High-Resolution Mass Spectrometry". Clinical Chemistry 59, nr 11 (1.11.2013): 1638–48. http://dx.doi.org/10.1373/clinchem.2013.209965.
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BACKGROUND Since the mid-2000s synthetic cannabinoids have been abused as recreational drugs, prompting scheduling of these substances in many countries. To circumvent legislation, manufacturers constantly market new compounds; [1-(5-fluoropentyl)indol-3-yl]-(2,2,3,3-tetramethylcyclopropyl)methanone (XLR-11), the fluorinated UR-144 analog, is one of the most recent and widely abused drugs, and its use is now linked with acute kidney injury. Our goal was to investigate XLR-11 metabolism for identification of major urinary targets in analytical methods and to clarify the origin of metabolites when one or more parent synthetic cannabinoids can be the source. METHODS We incubated 10 μmol/L XLR-11 with pooled human hepatocytes and sampled after 1 and 3 h. Samples were analyzed by high-resolution mass spectrometry with a TOF scan followed by information-dependent acquisition triggered product ion scans with dynamic BACKGROUND subtraction and mass defect filters. Scans were thoroughly data mined with different data processing algorithms (Metabolite Pilot 1.5). RESULTS XLR-11 underwent phase I and II metabolism, producing more than 25 metabolites resulting from hydroxylation, carboxylation, hemiketal and hemiacetal formation, internal dehydration, and further glucuronidation of some oxidative metabolites. No sulfate or glutathione conjugation was observed. XLR-11 also was defluorinated, forming UR-144 metabolites. On the basis of mass spectrometry peak areas, we determined that the major metabolites were 2′-carboxy-XLR-11, UR-144 pentanoic acid, 5-hydroxy-UR-144, hydroxy-XLR-11 glucuronides, and 2′-carboxy-UR-144 pentanoic acid. Minor metabolites were combinations of the biotransformations mentioned above, often glucuronidated. CONCLUSIONS These are the first data defining major urinary targets of XLR-11 metabolism that could document XLR-11 intake in forensic and clinical investigations.
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Wang, Huanan, Bing Mao i Chang Chen. "Xiaoqinglong Decoction Attenuates Chronic Obstructive Pulmonary Disease in Rats via Inhibition of Autophagy". Evidence-Based Complementary and Alternative Medicine 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/6705871.
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Effective treatment for chronic obstructive pulmonary disease (COPD) and knowledge of the underlying mechanism are urgently required. Xiaoqinglong decoction (XQL) is widely used to treat COPD in Traditional Chinese Medicine, but the mechanism remains unclear. In this study, we tested the hypothesis that XQL ameliorates COPD via inhibition of autophagy in lung tissue on a rat model. Rats were divided into five groups, namely, Control group, COPD group, COPD + XQL group, COPD + Rapamycin group, and COPD + XQL + Rapamycin group. Pathological changes on cellular and molecular levels, apoptosis reflected by TdT-mediated dUTP Nick-End Labeling (TUNEL) assay, and autophagy represented by LC3II/LC3I ratio and p62 level were investigated for each group. Compared with the Control group, COPD rats exhibited structural changes and activated inflammation in the lung tissue, together with enhanced apoptosis and elevated autophagy biomarkers. XQL treatment significantly ameliorated these changes, while rapamycin augmented them. These data altogether confirmed the involvement of autophagy in the pathogenesis of COPD and suggested that XQL attenuates COPD via inhibition of autophagy.
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Kelly, Sinead, Martin Cormican, Leanne Parke, Geraldine Corbett-Feeney i John Flynn. "Cost-Effective Methods for Isolation ofSalmonella enterica in the Clinical Laboratory". Journal of Clinical Microbiology 37, nr 10 (1999): 3369. http://dx.doi.org/10.1128/jcm.37.10.3369-3369.1999.
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Data from 8,717 fecal specimens indicate that primary inoculation of xylose lysine deoxycholate (XLD) agar may enhance the speed, but not the sensitivity, of isolation of Salmonella enterica over that achieved with Selenite enrichment only. Plating of Selenite broth onto both brilliant green and XLD agar offers no advantage over plating onto XLD alone.
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Hawley, Samuel, Nick J. Shaw, Antonella Delmestri, Daniel Prieto-Alhambra, Cyrus Cooper, Rafael Pinedo-Villanueva i M. Kassim Javaid. "Prevalence and Mortality of Individuals With X-Linked Hypophosphatemia: A United Kingdom Real-World Data Analysis". Journal of Clinical Endocrinology & Metabolism 105, nr 3 (15.11.2019): e871-e878. http://dx.doi.org/10.1210/clinem/dgz203.
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Abstract Background X-linked hypophosphatemia (XLH) is a rare multisystemic disease with a prominent musculoskeletal phenotype. We aim here to improve understanding of the prevalence of XLH across the life course and of overall survival among people with XLH. Methods This was a population-based cohort study using a large primary care database in the United Kingdom (UK) from 1995 to 2016. XLH cases were matched by age, gender, and practice to up to 4 controls. Trends in prevalence over the study period were estimated (stratified by age) and survival among cases was compared with that of controls. Findings From 522 potential cases, 122 (23.4%) were scored as at least possible XLH, while 62 (11.9%) were classified as highly likely or likely (conservative definition). In main analyses, prevalence (95% CI) increased from 3.1 (1.5–6.7) per million in 1995–1999 to 14.0 (10.8–18.1) per million in 2012–2016. Corresponding estimates using the conservative definition were 3.0 (1.4–6.5) to 8.1 (5.8–11.4). Nine (7.4%) of the possible cases died during follow-up, at median age of 64 years. Fourteen (2.9%) of the controls died at median age of 72.5 years. Mortality was significantly increased in those with possible XLH compared with controls (hazard ratio [HR] 2.93; 95% CI, 1.24–6.91). Likewise, among those with likely or highly likely XLH (HR 6.65; 1.44–30.72). Conclusions We provide conservative estimates of the prevalence of XLH in children and adults within the UK. There was an unexpected increase in mortality in later life, which may have implications for other fibroblast growth factor 23–related disorders.
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Baroncelli, Giampiero I., Silvano Bertelloni, Mirna Cosci o Di Coscio, Nina Tyutyusheva, Sofia D’Elios i Diego Peroni. "Management of patients with X-linked hypophosphatemic rickets during Covid-19 pandemic lockdown". Journal of Pediatric Endocrinology and Metabolism 34, nr 7 (23.04.2021): 905–10. http://dx.doi.org/10.1515/jpem-2021-0217.
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Abstract Objectives To identify a safe pathway for management and treatment of patients with X-linked hypophosphatemic rickets (XLH) during Covid-19 pandemic lockdown. Methods Twenty-six patients with XLH (age 3.1–25.7 years) were enrolled in Pediatric Endocrine Unit; nine of them were receiving human monoclonal anti-fibroblast growth factor 23 antibody (burosumab) and 17 (pediatric patients, age 9.5–17.9 years, n=7; young-adult patients, age 20.1–25.7 years, n=10) received conventional treatment with inorganic oral phosphate salts and active vitamin D metabolites. A Covid-19 free pathway was addressed for XLH patients receiving burosumab treatment in hospital. XLH patients receiving conventional treatment were followed by phone calls, e-mails, or telemedicine. Results All XLH patients receiving burosumab continued the scheduled follow-up and treatment; none of them was infected by Covid-19. Seven XLH patients out of 17 (41%) receiving conventional treatment showed some complication related to the disease itself or its treatment: periapical abscess with gingival fistula was diagnosed in five patients (three children and two young-adults) and treated with antibiotics with complete resolution; one child showed abdominal pain due to the administration of high doses of inorganic oral phosphate salts solved by reducing the dosage, and one child had severe legs pain during deambulation after orthopedic surgery solved with common analgesics. Conclusions Covid-19 free pathway was safe and effective to manage XLH patients receiving burosumab. E-health technologies were useful methods to follow XLH patients receiving conventional treatment during Covid-19 pandemic lockdown.
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Dixon, Peter H., Paul T. Christie, Carol Wooding, Dorothy Trump, Marvin Grieff, Ingrid Holm, Joseph M. Gertner i in. "Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia1". Journal of Clinical Endocrinology & Metabolism 83, nr 10 (1.10.1998): 3615–23. http://dx.doi.org/10.1210/jcem.83.10.5180.
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Hypophosphatemic rickets is commonly an X-linked dominant disorder (XLH or HYP) associated with a renal tubular defect in phosphate transport and bone deformities. The XLH gene, referred to as PHEX, or formerly as PEX (phosphate regulating gene with homologies to endopeptidases on the X-chromosome), encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in XLH patients, and we have undertaken studies to characterize such mutations in 46 unrelated XLH kindreds and 22 unrelated patients with nonfamilial XLH by single stranded conformational polymorphism and DNA sequence analysis. We identified 31 mutations (7 nonsense, 6 deletions, 2 deletional insertions, 1 duplication, 2 insertions, 4 splice site, 8 missense, and 1 within the 5′ untranslated region), of which 30 were scattered throughout the putative extracellular domain, together with 6 polymorphisms that had heterozygosity frequencies ranging from less than 1% to 43%. Single stranded conformational polymorphism was found to detect more than 60% of these mutations. Over 20% of the mutations were observed in nonfamilial XLH patients, who represented de novo occurrences of PHEX mutations. The unique point mutation (a→g) of the 5′untranslated region together with the other mutations indicates that the dominant XLH phenotype is unlikely to be explained by haplo-insufficiency or a dominant negative effect.
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Vincze, Jon, Brian W. Skinner, Katherine A. Tucker, Kory A. Conaway, Jonathan W. Lowery i Julia M. Hum. "The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology". Life 11, nr 6 (15.06.2021): 563. http://dx.doi.org/10.3390/life11060563.
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The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab. XLH is a renal phosphate wasting disorder caused by loss of function mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). Typical biochemical findings include elevated serum levels of bioactive/intact fibroblast growth factor 23 (FGF23) which lead to (i) low serum phosphate levels, (ii) increased fractional excretion of phosphate, and (iii) inappropriately low or normal 1,25-dihydroxyvitamin D (1,25-vitD). XLH is the most common form of heritable rickets and short stature in patients with XLH is due to chronic hypophosphatemia. Additionally, patients with XLH experience joint pain and osteoarthritis from skeletal deformities, fractures, enthesopathy, spinal stenosis, and hearing loss. Historically, treatment for XLH was limited to oral phosphate supplementation, active vitamin D supplementation, and surgical intervention for cases of severe bowed legs. In 2018, the United States Food and Drug Administration (FDA) approved burosumab for the treatment of XLH and this medication has demonstrated substantial benefit compared with conventional therapy. Burosumab binds circulating intact FGF23 and blocks its biological effects in target tissues, resulting in increased serum inorganic phosphate (Pi) concentrations and increased conversion of inactive vitamin D to active 1,25-vitD.
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Ford, P., G. Amodeo, C. Capurro, C. Ibarra, R. Dorr, P. Ripoche i M. Parisi. "Progesterone inhibition of water permeability in Bufo arenarum oocytes and urinary bladder". American Journal of Physiology-Renal Physiology 270, nr 5 (1.05.1996): F880—F885. http://dx.doi.org/10.1152/ajprenal.1996.270.5.f880.
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The ovarian oocytes from Bufo arenarum (BAO) but not those from Xenopus laevis (XLO) would have water channels (WC). We now report that the injection of the mRNA from BAO into the oocytes from XLO increased their water osmotic permeability (Pi) (reduced by 0.3 mM HgCl2 and reversed by 5 mM beta-mercaptoethanol). A 30-min challenge with progesterone induced, 18 h later, a reduction of the mercury-sensitive fraction of Pf in the BAO (but not in XLO). The mRNA from BAO pretreated with progesterone lost its capacity to induce WC in the XLO, but the hormone did not affect the expression of the WC in XLO previously injected with the mRNA from BAO. Pf was also measured in urinary bladders of BAO. Eighteen hours after a challenge with progesterone, a reduction in the hydrosmotic response to oxytocin was observed. Finally, the mRNA from the urinary bladder of BAO was injected into XLO. An increase in Pf was observed. This was not the case if, before the mRNA extraction, the bladders were treated with progesterone. We conclude that the BAO WC share progesterone sensitivity with the oxytocin-regulated water channel present in the toad urinary bladder.
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Nahum, Amit, David Manson i Bo Ngan. "Atypical presentation and manifestations in X-linked agammaglobulinemia patients with novel BTK mutations". LymphoSign Journal 2, nr 2 (1.06.2015): 75–83. http://dx.doi.org/10.14785/lpsn-2014-0015.
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X-linked agammaglobulinemia (XLA) is a rare immunodeficiency caused by defects in the Bruton tyrosine kinase (BTK) gene, characterized by impaired B-cell development, reduced immunoglobulin production, and increased susceptibility to bacterial infections at an early age. Some XLA patients show atypical presentations, with most reports concentrating on the diagnosis at a relatively old age. They presented with infections at late age or with unusual pathogens; however, other atypical manifestations have only rarely been reported. Methods: Description of patients with XLA and novel mutations in BTK who presented with atypical manifestations or developed noninfectious complications. Results: Four patients presented unique manifestations unusual for XLA. The first with Granulomatous Dermatitis, the second with acute demyelinating encephalomyelitis, the third with “Crohn's disease like” localized protein-losing enteropathy, and the last patient with idiopathic thrombocytopenic purpura, which is an unexpected finding in a patient devoid of endogenous immunoglobulins. Mutations in BTK were found in all domains of the gene; 1 resulted in a stop codon and 3 were missense mutations. Conclusions: Early recognition of atypical presentations and manifestations of patients with XLA is crucial for timely initiation of life-saving therapy, which may include anti-bacterial and anti-inflammatory treatments in addition to immunoglobulin. Statement of novelty: In this study we present unique inflammatory and autoimmune phenomenons in XLA patients that were not described previously and are somewhat unexpected. These should alert the immunologist for the possibility of XLA diagnosis.
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Diop, S. N., M. A. Diallo, C. K. Diawara i D. Cot. "Intrinsic properties and performances of NF270 and XLE membranes for water filtration". Water Supply 11, nr 2 (1.04.2011): 186–93. http://dx.doi.org/10.2166/ws.2011.024.
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Nanofiltration and low pressure reverse osmosis membranes are well-known in the field of drinking water production and their separation performance is very strongly related to their intrinsic characteristics. The membrane characterization (scanning electron microscopy (SEM), atomic force microscopy (AFM), zeta potential …) was realized on a NF270 and extra-low energy (XLE) membrane. SEM results of virgin NF270 and XLE membranes show that both are about the same thickness whereas that of the active layer of NF270 membrane is weaker than that of the XLE. The AFM measurements show that the roughness of the low pressure reverse osmosis membrane (XLE) is almost 20 times as high as that of nanofiltration (NF270). Zeta potential measurements showed that both membranes are negatively charged in pH (4–12) range. An increase in permeability by increasing feed pressure and temperature was also noted for the two types of membrane; but the permeability evolution for XLE membrane according to the volume factor reduction reveals a fall faster than that of NF270.
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Sochorová, Klára, Rudolf Horváth, Daniela Rožková, Jiří Litzman, Jiřina Bartůňková, Anna Šedivá i Radek Špíšek. "Impaired Toll-like receptor 8–mediated IL-6 and TNF-α production in antigen-presenting cells from patients with X-linked agammaglobulinemia". Blood 109, nr 6 (7.11.2006): 2553–56. http://dx.doi.org/10.1182/blood-2006-07-037960.
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Abstract The critical role of Bruton tyrosine kinase (Btk) in B cells has been documented by the block of B-cell development in X-linked agammaglobulinemia (XLA). Less is known about Btk function in myeloid cells. Several pieces of evidence indicate that Btk is a component of Toll-like receptor (TLR) signaling. We analyzed whether Btk deficiency in XLA is associated with an impaired dendritic cell (DC) compartment or defective TLR signaling. We analyzed the expression of TLRs 1 to 9 on myeloid DCs generated from XLA patients and evaluated their response to activation by specific TLR agonists. We show that XLA patients have normal numbers of circulating DCs. Btk-deficient DCs have no defect in response to stimulation of TLRs 1/2, 2/6, 3, 4, and 5 but display a profound impairment of IL-6 and TNF-α production in response to stimulation by TLR-8 cognate agonist, ssRNA. These findings may provide an explanation for the susceptibility to enteroviral infections in XLA patients.
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Wu, Qian, Takashi Ochi, Dijana Matak-Vinkovic, Carol V. Robinson, Dimitri Y. Chirgadze i Tom L. Blundell. "Non-homologous end-joining partners in a helical dance: structural studies of XLF–XRCC4 interactions". Biochemical Society Transactions 39, nr 5 (21.09.2011): 1387–92. http://dx.doi.org/10.1042/bst0391387.
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XRCC4 (X-ray cross-complementation group 4) and XLF (XRCC4-like factor) are two essential interacting proteins in the human NHEJ (non-homologous end-joining) pathway that repairs DNA DSBs (double-strand breaks). The individual crystal structures show that the dimeric proteins are homologues with protomers containing head domains and helical coiled-coil tails related by approximate two-fold symmetry. Biochemical, mutagenesis, biophysical and structural studies have identified the regions of interaction between the two proteins and suggested models for the XLF–XRCC4 complex. An 8.5 Å (1 Å=0.1 nm) resolution crystal structure of XLF–XRCC4 solved by molecular replacement, together with gel filtration and nano-ESI (nano-electrospray ionization)–MS results, demonstrates that XLF and XRCC4 dimers interact through their head domains and form an alternating left-handed helical structure with polypeptide coiled coils and pseudo-dyads of individual XLF and XRCC4 dimers at right angles to the helical axis.
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Mahaney, Brandi L., Michal Hammel, Katheryn Meek, John A. Tainer i Susan P. Lees-Miller. "XRCC4 and XLF form long helical protein filaments suitable for DNA end protection and alignment to facilitate DNA double strand break repair". Biochemistry and Cell Biology 91, nr 1 (luty 2013): 31–41. http://dx.doi.org/10.1139/bcb-2012-0058.
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DNA double strand breaks (DSBs), induced by ionizing radiation (IR) and endogenous stress including replication failure, are the most cytotoxic form of DNA damage. In human cells, most IR-induced DSBs are repaired by the nonhomologous end joining (NHEJ) pathway. One of the most critical steps in NHEJ is ligation of DNA ends by DNA ligase IV (LIG4), which interacts with, and is stabilized by, the scaffolding protein X-ray cross-complementing gene 4 (XRCC4). XRCC4 also interacts with XRCC4-like factor (XLF, also called Cernunnos); yet, XLF has been one of the least mechanistically understood proteins and precisely how XLF functions in NHEJ has been enigmatic. Here, we examine current combined structural and mutational findings that uncover integrated functions of XRCC4 and XLF and reveal their interactions to form long, helical protein filaments suitable to protect and align DSB ends. XLF–XRCC4 provides a global structural scaffold for ligating DSBs without requiring long DNA ends, thus ensuring accurate and efficient ligation and repair. The assembly of these XRCC4–XLF filaments, providing both DNA end protection and alignment, may commit cells to NHEJ with general biological implications for NHEJ and DSB repair processes and their links to cancer predispositions and interventions.
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Tabata, Yasuhiro, Joyce Villanueva, Susan Molleran Lee, Kejian Zhang, Hirokazu Kanegane, Toshio Miyawaki, Janos Sumegi i Alexandra H. Filipovich. "Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members". Blood 105, nr 8 (15.04.2005): 3066–71. http://dx.doi.org/10.1182/blood-2004-09-3651.
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AbstractMutations in the SH2D1A gene have been described in most patients with the clinical syndrome of X-linked lymphoproliferative disease (XLP). The diagnosis of XLP is still difficult given its clinical heterogeneity and the lack of a readily available rapid diagnostic laboratory test, particularly in patients without a family history of XLP. XLP should always be a consideration in males with Epstein-Barr virus–associated hemophagocytic lymphohistiocytosis (EBV-HLH). Four-color flow cytometric analysis was used to establish normal patterns of SH2D1A protein expression in lymphocyte subsets for healthy subjects. Three of 4 patients with XLP, as confirmed by the detection of mutations in the SH2D1A gene, had minimal intracellular SH2D1A protein in all cytotoxic cell types. The remaining patient lacked intracellular SH2D1A protein in CD56+ natural killer (NK) and T lymphocytes and had an abnormal bimodal pattern in CD8+ T cells. Carriers of SH2D1A mutations had decreased SH2D1A protein staining patterns compared with healthy controls. Eleven males with clinical syndromes consistent with XLP, predominantly EBV-HLH, had patterns of SH2D1A protein expression similar to those of healthy controls. Four-color flow cytometry provides diagnostic information that may speed the identification of this fatal disease, differentiating it from other causes of EBV-HLH.
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Hao, Yongbiao, Kazuko Nagase, Kazutoshi Hori, Shenglan Wang, Yoko Kogure, Ken Fukunaga, Shinichiro Kashiwamura i in. "Xilei San Ameliorates Experimental Colitis in Rats by Selectively Degrading Proinflammatory Mediators and Promoting Mucosal Repair". Evidence-Based Complementary and Alternative Medicine 2014 (2014): 1–10. http://dx.doi.org/10.1155/2014/569587.
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Xilei san (XLS), a herbal preparation widely used in China for erosive and ulcerative diseases, has been shown to be effective in ulcerative colitis (UC). The present experiments were conducted to assess its efficacy and determine its mechanism of action in a rat model that resembles human UC. The model was induced by adding 4% dextran sulfate sodium (DSS) to the rats’ drinking water for 7 days. XLS was administered daily by retention enema from day 2 to day 7; the rats were sacrificed on day 8. The colon tissues were obtained for further experiments. A histological damage score and the activity of tissue myeloperoxidase were used to evaluate the severity of the colitis. The colonic cytokine levels were detected in a suspension array, and epithelial proliferation was assessed using Ki-67 immunohistochemistry. Intrarectal administration of XLS attenuated the DSS-induced colitis, as evidenced by a reduction in both the histological damage score and myeloperoxidase activity. It also decreased the levels of proinflammatory cytokines, but increased the mucosal repair-related cytokines. In addition, the epithelial Ki-67 expression was upregulated by XLS. These results suggest that XLS attenuates DSS-induced colitis by degrading proinflammatory mediators and promoting mucosal repair. XLS could be a potential topical treatment for human UC.
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ZHANG, GUODONG, i KEITH A. LAMPEL. "Comparison of Chromogenic Biolog Rainbow Agar Shigella/Aeromonas with Xylose Lysine Desoxycholate Agar for Isolation and Detection of Shigella spp. from Foods†". Journal of Food Protection 73, nr 8 (1.08.2010): 1458–65. http://dx.doi.org/10.4315/0362-028x-73.8.1458.
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Shigella outbreaks are widely reported throughout the world. However, it remains a challenge to isolate Shigella spp. from foods by using conventional microbiological media. The main objective of this study was to determine the effectiveness of a novel chromogenic medium, Rainbow agar Shigella/Aeromonas (Rainbow agar), for the isolation and detection of Shigella spp. in foods. All four Shigella species, S. sonnei, S. flexneri, S. dysenteriae, and S. boydii, were studied. Rainbow agar was compared with tryptic soy agar, xylose lysine desoxycholate agar (XLD), and Salmonella Shigella agar (SSA) for enumeration of Shigella spp. in pure culture. This chromogenic agar and XLD were also used to isolate Shigella spp. in artificially contaminated foods (4.8 log CFU/g of food), including lettuce, parsley, cilantro, spinach, potato salad, and shrimp. The inhibitory effect on Shigella growth by Rainbow agar was between that of XLD and SSA. All vegetables studied showed a moderately high background microflora on XLD and Rainbow agar. With artificially inoculated produce, Rainbow agar recovered about 1 to 2 log CFU more S. sonnei, S. dysenteriae, and S. boydii per g of food than did XLD. For potato salad and shrimp, which had low background microflora on Rainbow agar, Rainbow agar was slightly better in recovering Shigella spp. than XLD was in most cases. However, we found that the addition of streptomycin (6.25 mg/liter) to Rainbow agar could facilitate the isolation of Shigella in vegetables tested. In conclusion, Rainbow agar was a much more effective medium than was XLD for the isolation of Shigella spp. from foods.
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Amenta, Eva, Helen E. King, Holger Petermann, Vuk Uskoković, Steven M. Tommasini i Carolyn M. Macica. "Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia". Therapeutic Advances in Chronic Disease 9, nr 12 (11.10.2018): 268–81. http://dx.doi.org/10.1177/2040622318804753.
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Background: X-linked hypophosphatemia (XLH) is the most common form of familial phosphate-wasting disorders, due to an inactivating mutation in the phosphate-regulating neutral endopeptidase, X-linked gene. Persistent osteomalacia, enthesophytes, osteophytes, degenerative arthritis and dental abscesses/periodontal disease dominate the adult disorder. However, the impact of insufficient phosphate on hydroxyapatite composition, the major inorganic component of bone and teeth, is unknown in individuals with XLH. Methods: Using Raman spectroscopy, the carbonate (CO32−) to phosphate (PO43−) ion ratio was measured in HYP and wild-type mice and in primary and permanent teeth from XLH individuals and unaffected controls. Results: There was a significant difference in carbonate ion substitution between the HYP and wild-type femoral cortical bone (0.36 ± 0.08 versus 0.24 ± 0.04; p < 0.001). Carbonate ion substitution levels were also higher in permanent XLH teeth compared with unaffected individuals (0.39 ± 0.12 versus 0.23 ± 0.04; p < 0.001), but not in primary teeth (0.29 ± 0.11 versus 0.26 ± 0.02; p = 0.29). Complementary Fourier transform infrared analyses demonstrated higher relative intensities of the four major vibrational bands originating from the carbonate anion in XLH teeth compared with unaffected controls. Conclusion: Ionic substitution within the crystal lattice is a common feature of hydroxyapatite and one that confers the physiological properties of bone that impact mechanical strength and the process of bone remodeling. Our data demonstrating anionic substitution in human dentin from individuals with XLH validate the use of dentin as a proxy for bone and to better understand the molecular adaptations that occur in the biochemical milieu of XLH.