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https://www.readbyqxmd.com/read/29142771/a-peruvian-child-with-18p-18q-syndrome-and-persistent-microscopic-hematuria
#1
Julio A Poterico, Flor Vásquez, Miguel Chávez-Pastor, Milana Trubnykova, Félix Chavesta, Jenny Chirinos, Nancy Salcedo, Rosmery Mena, Sulema Cubas, Rocío González, Rossana Alvariño, Hugo Abarca-Barriga
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29119847/myeloid-lymphoid-neoplasms-with-fgfr1-rearrangement
#2
Paolo Strati, Guilin Tang, Dzifa Y Duose, Saradhi Mallampati, Rajyalakshmi Luthra, Keyur P Patel, Mohammad Hussaini, Abu-Sayeef Mirza, Rami S Komrokji, Stephen Oh, John Mascarenhas, Vesna Najfeld, Vivek Subbiah, Hagop Kantarjian, Guillermo Garcia-Manero, Srdan Verstovsek, Naval Daver
Myeloid/lymphoid neoplasms with FGFR1 rearrangement are a rare entity. We present a multicenter experience of 17 patients with FISH-confirmed FGFR1 rearrangement. The clinical presentation at diagnosis included myeloproliferative neoplasm (MPN) in 4 (24%) patients, acute leukemia (AL) in 7 (41%), and concomitant MPN with AL in 6 (35%). The two most frequently observed cytogenetic abnormalities were t(8;13)(p11.2;q12)(partner gene ZMYM2) and t(8;22)(p11.2; q11.2)(BCR). Seventy-eight percent of tested patients had a RUNX1 mutation, of whom all had AL...
November 9, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/29110683/array-comparative-genomic-hybridization-of-18-pancreatic-ductal-adenocarcinomas-and-their-autologous-metastases
#3
Valentin Rausch, Andreas Krieg, Jordi Camps, Bianca Behrens, Manfred Beier, Darawalee Wangsa, Kerstin Heselmeyer-Haddad, Stephan E Baldus, Wolfram T Knoefel, Thomas Ried, Nikolas H Stoecklein
BACKGROUND: Mortality rates of pancreatic cancer remain high, which is mainly due to advanced disease and metastasis. We hypothesized that genomic copy number alterations are enriched in metastatic cells compared to autologous primary tumors, which may inform on cancer-related pathways possibly serving as potential targets for specific therapies. We investigated 18 pancreatic ductal adenocarcinomas, including 39 lymph node and 5 distant metastases after surgical resection. Analysis was performed with array-based comparative genomic hybridization (aCGH)...
November 6, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29107667/fgfr1-translocation-with-concurrent-myeloproliferative-neoplasm-systemic-mastocytosis-and-lymphoblastic-lymphoma-a-case-report
#4
Koping Chang, Jia-Hau Liu, Shan-Chi Yu, Chung-Wu Lin
FGFR1 translocation may cause myeloid or lymphoid neoplasm but rarely systemic mastocytosis (SM). Conversely, SM is associated with myeloproliferative neoplasm (MPN), but rarely lymphoblastic lymphoma (LBL) or FGFR1 translocation. We report the first case of FGFR1 translocation in a patient with concurrent LBL, MPN, and SM. A 21-year-old male patient presented with diffuse lymphadenopathies and leukocytosis. TdT(+)/cytoCD3(+)/CD79a(weakly+) LBL was identified in the lymph node. Bone marrow had MPN, SM, and TdT(+)/CD79a(+)/cytoCD3(weakly+) LBL...
October 28, 2017: Human Pathology
https://www.readbyqxmd.com/read/29090019/molecular-characterization-and-evaluation-of-complex-rearrangements-in-a-case-of-ring-chromosome-15
#5
Stuti Tewari, Naznin Lubna, Raju Shah, Ahmed B H Al-Rikabi, Krati Shah, Jayesh Sheth, Frenny Sheth
BACKGROUND: Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s, level of mosaicism and ring instability resulting in a variability of rearrangement of genetic material. CASE PRESENTATION: The proband, a 2 months old boy, presented with small head size and facial dysmorphism...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29079105/immunization-against-full-length-protein-and-peptides-from-the-lutzomyia-longipalpis-sand-fly-salivary-component-maxadilan-protects-against-leishmania-major-infection-in-a-murine-model
#6
William H Wheat, Erik N Arthun, John S Spencer, Daniel P Regan, Richard G Titus, Steven W Dow
Leishmaniasis is an arthropod vectored disease causing considerable human morbidity and mortality. Vaccination remains the most realistic and practical means to interrupt the growing number and diversity of sand fly vectors and reservoirs of Leishmania. Since transmission of Leishmania is achieved exclusively by sand fly vectors via immune-modulating salivary substances, conventional vaccination requiring an unmodified host immune response for success are potentially destined to fail unless immunomodulatory factors are somehow neutralized...
October 24, 2017: Vaccine
https://www.readbyqxmd.com/read/29050026/new-preventive-approaches-part-i-functional-peptides-and-other-therapies-to-prevent-tooth-demineralization
#7
Marília Afonso Rabelo Buzalaf, Juliano Pelim Pessan
The limited effect of fluoride on root caries has prompted the study of new preventive therapies, which involve recently developed functional peptides, lasers, phosphate-based technologies, among several other approaches. Most of the specific peptides currently investigated have been developed based on the available information related to the protective action of salivary proteins, including statherin-derived peptides. Other peptides include 8DSS, self-assembling peptide P11-4, antimicrobial peptides, and casein phosphopeptides combined with amorphous calcium phosphate...
2017: Monographs in Oral Science
https://www.readbyqxmd.com/read/29046314/respiratory-dysfunction-following-neonatal-sustained-hypoxia-exposure-during-a-critical-window-of-brainstem-extracellular-matrix-formation
#8
Christopher Stryker, Dominic W Camperchioli, Catherine A Mayer, Warren J Alilain, Richard John Martin, Peter M MacFarlane
The extracellular matrix (ECM) modulates brain maturation and plays a major role in regulating neuronal plasticity during critical periods of development. We examined: 1) whether there is a critical postnatal period of ECM expression in brainstem cardio-respiratory control regions; and 2) if the attenuated hypoxic ventilatory response (HVR) following neonatal sustained (5 days) hypoxia exposure (SH, 11% O2, 24hrs/day) is associated with altered ECM formation. The nucleus tractus solitarius (nTS), dorsal motor nucleus of the vagus (DMNV), the hypoglossal motor nucleus (XII), the cuneate nucleus (CN) and area postrema (AP) were immunofluorescently processed for aggrecan and Wisteria floribunda (WFA) agglutinin, a key proteoglycan of the ECM and the perineuronal net...
October 18, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29028593/genetic-variations-in-the-p11-tpa-bdnf-pathway-are-associated-with-post-stroke-depression
#9
Jinfeng Liang, Yingying Yue, Haitang Jiang, Deqin Geng, Jun Wang, Jianxin Lu, Shenghua Li, Kezhong Zhang, Aiqin Wu, Yonggui Yuan
BACKGROUND: The effects of BDNF on post stroke depression (PSD) may be influenced by genetic variations in intracellular signal transduction pathways, such as the p11/tPA/BDNF pathway. In this study, we aimed to determine the association of polymorphisms in candidate genes of the gene transduction pathway with PSD, as well as the effects of the interactions between genes in our Chinese sample. METHODS: Two-hundred-fifty-four Chinese samples with acute ischaemic stroke included 122 PSD patients and 132 nonPSD patients...
September 29, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29026552/the-discussion-of-t-1-17-p11-q21-translocation-in-acute-promyelocytic-leukemia-patient-on-molecular-remission
#10
Yannan Jia, Chengwen Li, Jiawei Zhao, Yang Song, Juan Wang, Yingchang Mi
Some chromosomal aberrations emerging in the course of treatment are probably not related to disease progression, but attribute to the germline alteration. Therefore, the dynamic genetic tests should be performed during the whole treatment process, which is significantly essential for efficacy evaluation and treatment decision- making.
October 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28984304/clinicopathological-and-genomic-analysis-of-double-hit-follicular-lymphoma-comparison-with-high-grade-b-cell-lymphoma-with-myc-and-bcl2-and-or-bcl6-rearrangements
#11
Masashi Miyaoka, Yara Y Kikuti, Joaquim Carreras, Haruka Ikoma, Shinichiro Hiraiwa, Akifumi Ichiki, Minoru Kojima, Kiyoshi Ando, Tomoyuki Yokose, Rika Sakai, Masahiro Hoshikawa, Naoto Tomita, Ikuo Miura, Katsuyoshi Takata, Tadashi Yoshino, Jun Takizawa, Silvia Bea, Elias Campo, Naoya Nakamura
Most high-grade B-cell lymphomas with MYC and BCL2 and/or BCL6 rearrangements are aggressive B-cell lymphomas. Occasional double-hit follicular lymphomas have been described but the clinicopathological features of these tumors are not well known. To clarify the characteristics of double-hit follicular lymphomas, we analyzed 10 cases of double-hit follicular lymphomas and 15 cases of high-grade B-cell lymphomas with MYC and BCL2 and/or BCL6 rearrangements for clinicopathological and genome-wide copy-number alterations and copy-neutral loss-of-heterozygosity profiles...
October 6, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28965243/prediction-of-a-rare-chromosomal-aberration-simultaneously-with-next-generation-sequencing-based-comprehensive-chromosome-screening-in-human-preimplantation-embryos-for-recurrent-pregnancy-loss
#12
Yi-Xuan Lee, Chien-Wen Chen, Yi-Hui Lin, Chii-Ruey Tzeng, Chi-Huang Chen
Preimplantation genetic testing has been used widely in recent years as a part of assisted reproductive technology (ART) owing to the breakthrough development of deoxyribonucleic acid (DNA) sequencing. With the advancement of technology and increased resolution of next generation sequencing (NGS), extensive comprehensive chromosome screening along with small clinically significant deletions and duplications can possibly be performed simultaneously. Here, we present a case of rare chromosomal aberrations: 46,XY,dup(15)(q11...
September 30, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28962207/whole-brain-ct-perfusion-imaging-using-increased-sampling-intervals-a-pilot-study
#13
Guoquan Cao, Weijian Chen, Houzhang Sun, Xianzhong Guo, Yunjun Yang, Kun Tang, Jinjin Liu
The aim of the present study was to investigate the feasibility of whole-brain perfusion imaging using the increased sampling interval protocol for 320-detector row dynamic-volume computed tomography (CT). A total of 12 volunteers were recruited. The novel protocols with 11 volumes (defined as protocol P11) and 15 volumes (defined as protocol P15) were performed on the volunteers to evaluate whether P11 and P15 are able to acquire comparable results to the standard protocol with 19 volumes (defined as protocol P19) according to the as-low-as-reasonably-achievable principle...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28962153/turner-syndrome-caused-by-rare-complex-structural-abnormalities-involving-chromosome-x
#14
Niu Li, Li Zhao, Juan Li, Yu Ding, Yongnian Shen, Xiaodong Huang, Xiumin Wang, Jian Wang
Turner syndrome (TS) is a phenotypic heterogeneous genetic disorder caused by the loss of an X-chromosome or X-structural abnormalities in the X-chromosome, and affects approximately 1 in every 2,500 females. The affected individuals may develop diverse clinical features, including short stature, ovarian dysgenesis, skeletal dysplasia, facial abnormalities and other disorders. A constitutional karyotype of 45, X accounts for nearly 50% of TS patients, while X-mosaicism and other X-chromosomal structural abnormalities, including deletions, duplications, ring, isodicentric chromosomes, inversions and translocations, have been reported in other cases...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28943754/pinus-densiflora-bark-extract-prevents-selenite-induced-cataract-formation-in-the-lens-of-sprague-dawley-rat-pups
#15
Jun Kim, Se-Young Choung
PURPOSE: Rat pups treated with sodium selenite are typically used as an in vivo model to mimic age-related nuclear cataract. Reactive oxygen species (ROS) production, lipid peroxidation, reduction of antioxidant enzymes, crystalline proteolysis, and apoptosis are considered factors that contribute to pathogenesis of age-related nuclear cataract. In the present study, we investigated whether Pinus densiflora bark extract has potential to prevent cataract formation and elucidated the underlying mechanism...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28935369/a-three-dimensional-model-of-rnase-p-in-the-hyperthermophilic-archaeon-pyrococcus-horikoshii-ot3
#16
Xuzhu Gao, Kosuke Oshima, Toshifumi Ueda, Takashi Nakashima, Makoto Kimura
Ribonuclease P (RNase P) is an endoribonuclease involved in maturation of the 5'-end of tRNA. We found previously that RNase P in the hyperthermophilic archaeon Pyrococcus horikoshii OT3 consists of a catalytic RNase P RNA (PhopRNA) and five protein cofactors designated PhoPop5, PhoRpp21, PhoRpp29, PhoRpp30, and PhoRpp38. The crystal structures of the five proteins have been determined, a three-dimensional (3-D) model of PhopRNA has been constructed, and biochemical data, including protein-RNA interaction sites, have become available...
November 18, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28924540/analysis-of-meiotic-segregation-patterns-and-interchromosomal-effects-in-sperm-from-13-robertsonian-translocations
#17
B Wang, B Nie, D Tang, R Li, X Liu, J Song, W Wang, Z Liu
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28911960/characterization-of-the-adrenocorticotrophic-hormone-induced-mouse-model-of-resistance-to-antidepressant-drug-treatment
#18
Bettadapura N Srikumar, Mahesh Paschapur, Narasimharaju Kalidindi, Bharath Adepu, Manish L Das, Muppana V Sreedhara, Vijaya K Kuchibhotla, Rick L Pieschl, Yu-Wen Li, Durga Shiva Prasad Ega, Justin V Louis, Senthilkumar Murugesan, Pattipati S Naidu, Manjunath Ramarao, Linda J Bristow, Reeba K Vikramadithyan
Approximately 30-60% of patients treated with existing antidepressants fail to achieve remission of depressive symptoms leading to Treatment Resistant Depression (TRD). There is an urgent need to develop novel medications, which is highly limited by the non-availability of relevant animal models with good predictive validity. ACTH administration has been shown to result in the resistance to acute and chronic effects of imipramine. However, the pharmacology of the model and the mechanisms contributing to the resistance are not completely understood...
October 2017: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/28894557/clinico-pathological-spectrum-and-novel-karyotypic-findings-in-myelodysplastic-syndrome-experience-of-tertiary-care-center-in-india
#19
Ruchi Gupta, Khaliqur Rahman, Manish Kumar Singh, Surabhi Kumari, Geeta Yadav, Soniya Nityanand
BACKGROUND: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by the presence of cytopenia/s. Limited data are available about the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinico-pathological, morphological and cytogenetic spectrum of Indian MDS patients. MATERIAL AND METHODS: A retrospective analysis of all patients diagnosed with MDS from June 2012 to December 2016 was performed...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28892645/self-assembling-peptide-p11-4-and-fluoride-for-regenerating-enamel
#20
M Alkilzy, A Tarabaih, R M Santamaria, C H Splieth
Regenerative medicine-based approaches for caries treatment focus on biomimetic remineralization of initial carious lesions as a minimal invasive therapy. In vitro, self-assembling peptide P11-4 enhances remineralization of early carious lesions. To investigate the safety and clinical efficacy of P11-4 for treatment of initial caries, a randomized controlled single-blind study was conducted on children aged >5 y with visible active early caries on erupting permanent molars. Subjects were randomized to either the test group (P11-4 + fluoride varnish) or control group (fluoride varnish alone)...
September 1, 2017: Journal of Dental Research
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