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https://www.readbyqxmd.com/read/28076762/a-leptin-analog-locally-produced-in-the-brain-acts-via-a-conserved-neural-circuit-to-modulate-obesity-linked-behaviors-in-drosophila
#1
Jennifer Beshel, Josh Dubnau, Yi Zhong
Leptin, a typically adipose-derived "satiety hormone," has a well-established role in weight regulation. Here we describe a functionally conserved model of genetically induced obesity in Drosophila by manipulating the fly leptin analog unpaired 1 (upd1). Unexpectedly, cell-type-specific knockdown reveals upd1 in the brain, not the adipose tissue, mediates obesity-related traits. Disrupting brain-derived upd1 in flies leads to all the hallmarks of mammalian obesity: increased attraction to food cues, increased food intake, and increased weight...
January 10, 2017: Cell Metabolism
https://www.readbyqxmd.com/read/28032876/evaluaci%C3%A3-n-de-las-evidencias-y-calidad-de-las-gu%C3%A3-as-de-pr%C3%A3-ctica-cl%C3%A3-nica-sobre-deterioro-de-la-integridad-cut%C3%A3-nea-%C3%A3%C2%BAlceras-y-heridas-cr%C3%A3-nicas
#2
J M Rumbo Prieto, M Romero Martín, D Bellido Guerrero, L Arantón Areosa, C D Raña Lama, F Palomar Llatas
Fundamento. La situación epidemiológica, sociosanitaria y económica que rodea al deterioro de la integridad cutánea supone un gran problema para el sistema sanitario. Su prevención y tratamiento crea incertidumbre y variabilidad profesional siendo prioritario contar con buenas Guías de Práctica Clínica (GPC). El objetivo fue conocer la calidad de las GPC sobre prevención y tratamiento de úlceras por presión (UPP), úlceras venosas de la pierna (UVP) y úlceras de pie diabético (UPD). Metodología...
December 30, 2016: Anales del Sistema Sanitario de Navarra
https://www.readbyqxmd.com/read/28032339/maternal-uniparental-disomy-of-chromosome-16-upd-16-mat-clinical-features-are-rather-caused-by-hidden-trisomy-16-mosaicism-than-by-upd-16-mat-itself
#3
Ruth Scheuvens, Matthias Begemann, Lukas Soellner, Dieter Meschede, Gisela Raabe-Meyer, Miriam Elbracht, Regine Schubert, Thomas Eggermann
Maternal uniparental disomy of chromosome 16 (upd(16)mat) as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate between features resulting from upd(16)mat and mosaic trisomy 16. By evaluating literature data (n = 74) and three own cases we aimed to determine whether the clinical features are due to upd(16)mat or to trisomy 16 mosaicism. Whereas in single cases the clinical symptoms were caused by homozygosity of autosomal recessive mutations on chromosome 16, it turned out that clinical features in upd(16)mat are caused by (hidden) trisomy 16 mosaicism and a specific chromosome 16 associated imprinting disorder does not exist...
December 29, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27980747/mosaic-partial-pericentromeric-trisomy-8-and-maternal-uniparental-disomy-in-a-male-patient-with-autism-spectrum-disorder
#4
Dina F Ahram, Danae Stambouli, Aleksandra Syrogianni, Yasser Al-Sarraj, Spyridon Gerou, Hatem El-Shanti, Marios Kambouris
Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27977403/clinical-and-molecular-characterization-of-beckwith-wiedemann-syndrome-in-a-chinese-population
#5
Ho Ming Luk
BACKGROUND: The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) patients. METHODS: A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and September 2015. RESULTS: It was observed that 48...
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27924152/molecular-characterization-of-a-rare-analphoid-supernumerary-marker-chromosome-derived-from-7q35%C3%A2-%C3%A2-%C3%A2-qter-a-case-report
#6
Bárbara Marques, Cristina Ferreira, Filomena Brito, Sónia Pedro, Cristina Alves, Teresa Lourenço, Marta Amorim, Hildeberto Correia
BACKGROUND: Analphoid supernumerary marker chromosomes (aSMC) constitute one of the smallest groups of SMC, and are characterized by a centromeric constriction but no detectable alpha-satellite DNA. These marker chromosomes cannot be properly identified by conventional banding techniques alone, and molecular cytogenetic methods are necessary for a detailed characterization. Analphoid SMC derived from chromosome 7 are extremely rare, with only five cases reported so far. CASE PRESENTATION: In this work we report an aSMC involving the terminal long arm of chromosome 7 in a 10-year-old boy with multiple dysmorphic features and severe development delay...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27922284/two-iugr-foetuses-with-maternal-uniparental-disomy-of-chromosome-6-or-upd-6-mat
#7
Wing Cheong Leung, Wai Lam Lau, T K Lo, Tze Kin Lau, Y Y Lam, Anita Kan, Kelvin Chan, Elizabeth T Lau, Mary H Tang
No abstract text is available yet for this article.
December 6, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27910023/array-based-comparative-genomic-hybridization-acgh
#8
Chengsheng Zhang, Eliza Cerveira, Mallory Romanovitch, Qihui Zhu
Copy number variations (CNVs) in the genomes have been suggested to play important roles in human evolution, genetic diversity, and disease susceptibility. A number of assays have been developed for the detection of CNVs, including fluorescent in situ hybridization (FISH), array-based comparative genomic hybridization (aCGH), PCR-based assays, and next-generation sequencing (NGS). In this chapter, we describe a microarray method that has been used for the detection of genome-wide CNVs, loss of heterozygosity (LOH), and uniparental disomy (UPD) associated with constitutional and neoplastic disorders...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27836923/single-nucleotide-polymorphism-array-snp-a-improves-the-identification-of-chromosomal-abnormalities-by-metaphase-cytogenetics-in-myelodysplastic-syndrome
#9
Fernanda Borges da Silva, João Agostinho Machado-Neto, Virginia Helena Leira Lipoli Bertini, Elvira Deolinda Rodrigues Pereira Velloso, Cristina Alonso Ratis, Rodrigo T Calado, Belinda Pinto Simões, Eduardo Magalhães Rego, Fabiola Traina
AIMS: The myelodysplastic syndromes (MDS) are a heterogeneous group of clonal haematopoietic stem cell disorders characterised by inefficient haematopoiesis and risk of progression to acute myeloid leukaemia. Metaphase cytogenetics is an extremely valuable clinical tool in the management of haematological malignancies. However, metaphase cytogenetics requires cellular proliferation, its sensitivity and resolution depends on the proportion of clonal cells in the sample and size of the lesion, respectively...
November 11, 2016: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27767174/bactrocera-dorsalis-male-sterilization-by-targeted-rna-interference-of-spermatogenesis-empowering-sterile-insect-technique-programs
#10
Yong-Cheng Dong, Zhi-Jian Wang, Zhen-Zhong Chen, Anthony R Clarke, Chang-Ying Niu
RNA interference (RNAi) is a genetic technique which has novel application for sustainable pest control. The Sterile Insect Technique (SIT) uses releases of mass-produced, sterile male insects to out-compete wild males for mates to reduce pest populations. RNAi sterilization of SIT males would have several advantages over radiation sterilization, but to achieve this appropriate target genes must first be identified and then targeted with interference technology. With this goal, eight spermatogenesis related candidate genes were cloned and tested for potential activity in Bactrocera dorsalis...
October 21, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27725226/mutant-allele-specific-imbalance-in-oncogenes-with-copy-number-alterations-occurrence-mechanisms-and-potential-clinical-implications
#11
Chih-Chieh Yu, Wanglong Qiu, Caroline S Juang, Mahesh M Mansukhani, Balazs Halmos, Gloria H Su
Mutant allele specific imbalance (MASI) was initially coined to describe copy number alterations associated with the mutant allele of an oncogene. The copy number gain (CNG) specific to the mutant allele can be readily observed in electropherograms. With the development of genome-wide analyses at base-pair resolution with copy number counts, we can now further differentiate MASI into those with CNG, with copy neutral alteration (also termed acquired uniparental disomy; UPD), or with loss of heterozygosity (LOH) due to the loss of the wild-type (WT) allele...
October 8, 2016: Cancer Letters
https://www.readbyqxmd.com/read/27717089/chromosomal-microarray-in-a-highly-consanguineous-population-diagnostic-yield-utility-of-regions-of-homozygosity-and-novel-mutations
#12
M A Alabdullatif, M A Al Dhaibani, M Y Khassawneh, A W El-Hattab
Chromosomal microarray (CMA) has significantly improved diagnosing copy number variations (CNVs). Single nucleotide polymorphism (SNP) arrays confer additional utility in detecting regions of homozygosity (ROH). Investigating ROH for genes associated with recessive disorders for follow-up sequencing can aid in diagnosis. In this study, we performed a retrospective review of clinical and molecular data for 227 individuals from a highly consanguineous population who previously had a CMA. Pathogenic CNVs were identified in 32 (14%) cases; ROH suggesting uniparental disomy (UPD) in three (1%) cases, and an additional 25 (11%) individuals were diagnosed with recessive disorders caused by mutations in ROH candidate genes, thereby increasing the CMA diagnostic yield to 26%...
September 22, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27681307/uniparental-disomy-causes-deficiencies-of-vitamin-k-dependent-proteins
#13
M A Dasi, R Gonzalez-Conejero, S Izquierdo, J Padilla, J L Garcia, N Garcia-Barberá, B Argilés, M E de la Morena-Barrio, J M Hernández-Sánchez, J M Hernández-Rivas, V Vicente, J Corral
: Essentials Vitamin K-dependent coagulant factor deficiency (VKCFD) is a rare autosomal recessive disorder. We describe a case of inherited VKCFD due to uniparental disomy. The homozygous mutation caused the absence of GGCX isoform 1 and overexpression of Δ2GGCX. Hepatic and non-hepatic vitamin K-dependent proteins must be assayed to monitor VKCFD treatment. SUMMARY: Background Inherited deficiency of all vitamin K-dependent coagulant factors (VKCFD) is a rare autosomal recessive disorder caused by mutations in the γ-glutamyl carboxylase gene (GGCX) or the vitamin K epoxide reductase gene (VKORC1), with great heterogeneity in terms of both clinical presentation and response to treatment...
December 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27662437/effect-of-genotype-and-previous-gh-treatment-on-adiposity-in-adults-with-prader-willi-syndrome
#14
Muriel Coupaye, Maithé Tauber, Laurence Cuisset, Virginie Laurier, Eric Bieth, Jean-Marc Lacorte, Jean-Michel Oppert, Karine Clément, Christine Poitou
CONTEXT: Adults with Prader-Willi syndrome (PWS) have an increased proportion of sc fat mass compared with body mass index (BMI)-matched controls, but whether the genotype influences body composition and metabolic profile remains controversial. OBJECTIVE: To assess body composition and metabolic features in adults with PWS, according to genetic subtype. In addition, the effect of previous GH treatment was assessed. Main Outcomes and Measures: Body composition (Dual Energy X-ray Absorptiometry) and metabolic parameters were compared in PWS adults (mean age, 25...
December 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27589201/paternal-uniparental-disomy-with-segmental-loss-of-heterozygosity-of-chromosome-11-are-hallmark-characteristics-of-syndromic-and-sporadic-embryonal-rhabdomyosarcoma
#15
Katherine M Robbins, Deborah L Stabley, Jennifer Holbrook, Rebecca Sahraoui, Alexa Sadreameli, Katrina Conard, Laura Baker, Karen W Gripp, Katia Sol-Church
Costello syndrome (CS) arises from a typically paternally derived germline mutation in the proto-oncogene HRAS, and is considered a rasopathy. CS results in failure-to-thrive, intellectual disabilities, short stature, coarse facial features, skeletal abnormalities, congenital heart disease, and a predisposition for cancer, most commonly embryonal rhabdomyosarcoma (ERMS). The goal of this study was to characterize CS ERMS at the molecular level and to determine how divergent it is from sporadic ERMS. We characterized eleven ERMS tumors from eight unrelated CS patients, carrying paternally derived HRAS c...
December 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27569549/dna-methylation-profiling-of-uniparental-disomy-subjects-provides-a-map-of-parental-epigenetic-bias-in-the-human-genome
#16
Ricky S Joshi, Paras Garg, Noah Zaitlen, Tuuli Lappalainen, Corey T Watson, Nidha Azam, Daniel Ho, Xin Li, Stylianos E Antonarakis, Han G Brunner, Karin Buiting, Sau Wai Cheung, Bradford Coffee, Thomas Eggermann, David Francis, Joep P Geraedts, Giorgio Gimelli, Samuel G Jacobson, Cedric Le Caignec, Nicole de Leeuw, Thomas Liehr, Deborah J Mackay, Stephen B Montgomery, Alistair T Pagnamenta, Peter Papenhausen, David O Robinson, Claudia Ruivenkamp, Charles Schwartz, Bernhard Steiner, David A Stevenson, Urvashi Surti, Thomas Wassink, Andrew J Sharp
Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27559361/maternal-uniparental-disomy-14-and-mosaic-trisomy-14-in-a-chinese-boy-with-moderate-to-severe-intellectual-disability
#17
Shujie Zhang, Haisong Qin, Jin Wang, Luping OuYang, Shiyu Luo, Chunyun Fu, Xin Fan, Jiasun Su, Rongyu Chen, Bobo Xie, Xuyun Hu, Shaoke Chen, Yiping Shen
BACKGROUND: Both maternal uniparental disomy 14 (UPD(14)mat) and mosaic trisomy 14 are rare events in live individuals. A combination of the two events in one individual is rarely encountered. Only six live-born cases have so far been reported. CASE PRESENTATION: Here we reported a case of concomitant UPD(14)mat and mosaic trisomy 14 in a 10-year-old Chinese patient. Most clinical features of our patient were consistent with those previous reported for UPD(14)mat cases, which include prenatal and postnatal growth retardation, neonatal hypotonia, feeding difficulty, intellectual disability, truncal obesity, small hands and feet, short stature, and mild facial dysmorphism, but our patient showed more severe intellectual disability and no sign of precocious puberty...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27500688/maternal-uniparental-disomy-for-chromosome-6-in-a-patient-with-iugr-ambiguous-genitalia-and-persistent-mullerian-structures
#18
Joanna Lazier, Nicole Martin, James Dimitrios Stavropoulos, David Chitayat
Maternal uniparental disomy of chromosome 6 [upd(6)mat] is rare and has only been previously reported 13 times with the main associated phenotype being IUGR. We present a case of a male patient with isodisomy upd(6)mat resulting in severe IUGR and ambiguous genitalia, a phenotype not previously described in association with this chromosome finding. The patient initially presented prenatally with IUGR at 19 weeks gestation with placental dysfunction and ambiguous genitalia noted at 27 weeks. Postnatally, the patient had external genital abnormalities, the gonads were in the inguinal canal and there was a rudimentary appearing vagina and uterus...
August 8, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27472129/omnidirectional-measurements-of-angle-resolved-heat-capacity-for-complete-detection-of-superconducting-gap-structure-in-the-heavy-fermion-antiferromagnet-upd_-2-al_-3
#19
Yusei Shimizu, Shunichiro Kittaka, Toshiro Sakakibara, Yasumasa Tsutsumi, Takuya Nomoto, Hiroaki Ikeda, Kazushige Machida, Yoshiya Homma, Dai Aoki
Quasiparticle excitations in UPd_{2}Al_{3} were studied by means of heat-capacity (C) measurements under rotating magnetic fields using a high-quality single crystal. The field dependence shows C(H)∝H^{1/2}-like behavior at low temperatures for both two hexagonal crystal axes, i.e., H∥[0001] (c axis) and H∥[112[over ¯]0] (a axis), suggesting the presence of nodal quasiparticle excitations from heavy bands. At low temperatures, the polar-angle (θ) dependence of C exhibits a maximum along H∥[0001] with a twofold symmetric oscillation below 0...
July 15, 2016: Physical Review Letters
https://www.readbyqxmd.com/read/27448223/local-adjunct-effect-of-antimicrobial-photodynamic-therapy-for-the-treatment-of-chronic-periodontitis-in-type-2-diabetics-split-mouth-double-blind-randomized-controlled-clinical-trial
#20
RANDOMIZED CONTROLLED TRIAL
Nídia Cristina Castro Dos Santos, Naira Maria Rebelatto Bechara Andere, Cássia Fernandes Araujo, Andrea Carvalho de Marco, Lúcio Murilo Dos Santos, Maria Aparecida Neves Jardini, Mauro Pedrine Santamaria
Diabetes has become a global epidemic. Its complications can have a significant impact on quality of life, longevity, and public health costs. The presence of diabetes might impair the prognosis of periodontal treatments due to its negative influence on wound healing. Antimicrobial photodynamic therapy (aPDT) is a local approach that can promote bacterial decontamination in periodontal pockets. The aim of this study was to investigate the local effect of adjunct aPDT to ultrasonic periodontal debridement (UPD) and compare it to UD only for the treatment of chronic periodontitis in type 2 diabetic patients...
November 2016: Lasers in Medical Science
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