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https://www.readbyqxmd.com/read/28535259/altered-organisation-of-the-intermediate-filament-cytoskeleton-and-relocalisation-of-proteostasis-modulators-in-cells-lacking-the-ataxia-protein-sacsin
#1
Emma J Duncan, Roxanne Larivière, Teisha Y Bradshaw, Fabiana Longo, Nicolas Sgarioto, Matthew J Hayes, Lisa E L Romano, Suran Nethisinghe, Paola Giunti, Michaela B Bruntraeger, Heather D Durham, Bernard Brais, Francesca Maltecca, Benoit J Gentil, J Paul Chapple
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the gene SACS, encoding the 520 kDa protein sacsin. Although sacsin's physiological role is largely unknown, its sequence domains suggest a molecular chaperone or protein quality control function. Consequences of its loss include neurofilament network abnormalities, specifically accumulation and bundling of perikaryal and dendritic neurofilaments.To investigate if loss of sacsin affects intermediate filaments more generally, the distribution of vimentin was analysed in ARSACS patient fibroblasts and in cells where sacsin expression was reduced...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28535199/genotype-phenotype-correlation-in-patients-with-isovaleric-acidemia-comparative-structural-modelling-and-computational-analysis-of-novel-variants
#2
Osama K Zaki, George Priya Doss C, Salsabil A Ali, Ghadeer G Murad, Shaima A Elashi, Maryam Sa Ebnou, D Thirumal Kumar, Ola Khalifa, Radwa Gamal, Heba S A El Abd, Bilal N Nasr, Hatem Zayed
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism. It is caused by a deficiency in the mitochondrial isovaleryl-CoA dehydrogenase (IVD) enzyme. In this study, we investigated eight patients with IVA. The patients diagnoses were confirmed by urinary organic acid analysis and the blood C5-Carnitine value. A molecular genetic analysis of the IVD gene revealed nine different variants: five were missense variants (c.1193G>A; p. R398Q, c.1207T>A; p. Y403N, c.872C>T; p...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28534356/abcb1-c3435t-polymorphism-and-breast-cancer-risk-a-case-control-study-and-a-meta-analysis
#3
Alireza Sharif, Davood Kheirkhah, Mohammad Reza Sharif, Mohammad Karimian, Zahra Karimian
PURPOSE: To investigate the association of ABCB1-C3435T transition with breast cancer risk which was followed by a meta-analysis. METHODS: In a case-control study we collected blood samples from 290 women (including 150 breast cancer patients and 140 healthy controls). ABCB1-C3435T genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. A meta- analysis was performed for a total of 13 eligible studies involving 5,835 cases and 8,178 controls...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28534046/genetic-analysis-of-age-at-onset-variation-in-spinocerebellar-ataxia-type-2
#4
K P Figueroa, Hilary Coon, Nieves Santos, Luis Velazquez, Luis Almaguer Mederos, Stefan-M Pulst
OBJECTIVE: To examine heritability of the residual variability of spinocerebellar ataxia type 2 (SCA2) age at onset (AO) after controlling for CAG repeat length. METHODS: From 1955 to 2001, dates of birth, CAG repeat lengths, AO, sex, familial inheritances, and clinical manifestations were collected for a large Cuban SCA2 cohort of 382 affected individuals, including 129 parent-child pairs and 69 sibships. Analyses were performed with log-transformed AO in the GENMOD procedure to predict AO using repeat length, taking into account family structure...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28533814/teenage-mothers-today-what-we-know-and-how-it-matters
#5
Stefanie Mollborn
Over the past two decades, births to U.S. teenagers have fallen and no longer follow overall fertility patterns. Yet the unique challenges faced by teenage mothers and their families justify continued research. Across disciplines, newer work has furthered our understanding of teenage motherhood today. In this article, I highlight four areas of progress: processes of selection into teenage motherhood, the broader consequences of teenage childbearing beyond the socioeconomic realm, heterogeneity of effects, and the application of life course principles...
March 2017: Child Development Perspectives
https://www.readbyqxmd.com/read/28533426/a-reappraised-meta-analysis-of-the-genetic-association-between-vitamin-d-receptor-bsm-i-rs1544410-polymorphism-and-pulmonary-tuberculosis-risk
#6
Mohammed Y Areeshi, Raju K Mandal, Sajad Ahmad Dar, Abdulrahman M Alshahrani, Aqeel Ahmad, Arshad Jawed, Mohd Wahid, Mohtashim Lohani, Aditya K Panda, Shafiul Haque
BsmI (rs1544410) polymorphism located in intron 8 at the 3' end of the VDR gene is known to be involved in the regulation of mRNA stability. Many studies evaluated the possible correlation between VDR Bsm I polymorphism and the risk of pulmonary tuberculosis (PTB), and reported conflicting results. In this study, an updated meta-analysis was performed to evaluate the above said association. PubMed, EMBASE, and Google Scholar web-databases were searched for the relevant studies and a meta-analysis was performed by calculating pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) for all the genetic models...
May 22, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28533382/interplay-of-catalysis-fidelity-threading-and-processivity-in-the-exo-and-endonucleolytic-reactions-of-human-exonuclease-i
#7
Yuqian Shi, Homme W Hellinga, Lorena S Beese
Human exonuclease 1 (hExo1) is a member of the RAD2/XPG structure-specific 5'-nuclease superfamily. Its dominant, processive 5'-3' exonuclease and secondary 5'-flap endonuclease activities participate in various DNA repair, recombination, and replication processes. A single active site processes both recessed ends and 5'-flap substrates. By initiating enzyme reactions in crystals, we have trapped hExo1 reaction intermediates that reveal structures of these substrates before and after their exo- and endonucleolytic cleavage, as well as structures of uncleaved, unthreaded, and partially threaded 5' flaps...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28533154/preconception-and-prenatal-genetic-counselling
#8
REVIEW
Adonis S Ioannides
Identifying individuals at risk of having children affected by genetic conditions or congenital anomalies allows counselling that aims to inform reproductive decisions. This process takes place either at the preconception or early prenatal stage, although more options are available if risks are identified before the pregnancy. Preconception counselling covers issues that can affect the health of the mother and baby including folic acid supplementation. Carrier screening for autosomal recessive diseases, such as beta thalassaemia, has resulted in a significantly reduced incidence in many countries...
April 21, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28532785/best-practice-in-the-measurement-and-interpretation-of-lysosomal-acid-lipase-in-dried-blood-spots-using-the-inhibitor-lalistat-2
#9
Zoltan Lukacs, Marianne Barr, John Hamilton
Lysosomal acid lipase deficiency (LAL-D) is an inherited, autosomal recessive lysosomal storage disorder characterized by progressive damage in multiple organ systems. Diagnosis is especially important in infants, in whom the course of disease is rapidly lethal without treatment. The recent regulatory approval of recombinant human lysosomal acid lipase (LAL), sebelipase alfa, merits rapid diagnosis in clinical routine, particularly in infants. A method for measuring LAL activity in dried blood spot (DBS) samples using the highly specific LAL inhibitor Lalistat 2 is available...
May 19, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28532160/primer-in-genetics-and-genomics-article-4-inheritance-patterns
#10
Lisa B Aiello, Beth Desaretz Chiatti
Since the completion of the Human Genome Project, much has been uncovered about inheritance of various illnesses and disorders. There are two main types of inheritance: Mendelian and non-Mendelian. Mendelian inheritance includes autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance. Non-Mendelian inheritance includes mitochondrial and multifactorial inheritance. Nurses must understand the types of inheritance in order to identify red flags that may indicate the possibility of a hereditary disorder in a patient or family...
January 1, 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28530676/mutations-in-dzip1l-which-encodes-a-ciliary-transition-zone-protein-cause-autosomal-recessive-polycystic-kidney-disease
#11
Hao Lu, Maria C Rondón Galeano, Elisabeth Ott, Geraldine Kaeslin, P Jaya Kausalya, Carina Kramer, Nadina Ortiz-Brüchle, Nadescha Hilger, Vicki Metzis, Milan Hiersche, Shang Yew Tay, Robert Tunningley, Shubha Vij, Andrew D Courtney, Belinda Whittle, Elke Wühl, Udo Vester, Björn Hartleben, Steffen Neuber, Valeska Frank, Melissa H Little, Daniel Epting, Peter Papathanasiou, Andrew C Perkins, Graham D Wright, Walter Hunziker, Heon Yung Gee, Edgar A Otto, Klaus Zerres, Friedhelm Hildebrandt, Sudipto Roy, Carol Wicking, Carsten Bergmann
Autosomal recessive polycystic kidney disease (ARPKD), usually considered to be a genetically homogeneous disease caused by mutations in PKHD1, has been associated with ciliary dysfunction. Here, we describe mutations in DZIP1L, which encodes DAZ interacting protein 1-like, in patients with ARPKD. We further validated these findings through loss-of-function studies in mice and zebrafish. DZIP1L localizes to centrioles and to the distal ends of basal bodies, and interacts with septin2, a protein implicated in maintenance of the periciliary diffusion barrier at the ciliary transition zone...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28530463/association-of-il-6-174-g-c-polymorphism-with-the-risk-of-sle-among-south-indians-evidence-from-case-control-study-and-meta-analysis
#12
S K Katkam, L Rajasekhar, K Kumaraswami, V K Kutala
Cytokines play a direct role in disease pathogenesis of systemic lupus erythematosus (SLE). Elevated levels of serum IL-6 are well documented with the disease activity and anti-dsDNA antibodies in SLE. The 5' promoter region of the IL-6 gene has been shown to play a significant role in the regulation of gene expression. In view of this, the current study aimed to investigate the possible association of 5' promoter polymorphisms G-597A (rs1800797), G-572C (rs1800796) and G-174C (rs1800795) with the risk of SLE...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28528422/5-ala-fluorescence-guided-endoscopic-surgery-for-mixed-germ-cell-tumors
#13
Junichi Takeda, Masahiro Nonaka, Yi Li, Yumiko Komori, Takamasa Kamei, Ryoichi Iwata, Tetsuo Hashiba, Kunikazu Yoshimura, Akio Asai
5-Aminolevulinic acid (5-ALA) fluorescence-guided surgery is widely used for detection and planning of resection of malignant gliomas and other brain tumors. However, no reports have described 5-ALA fluorescence-guided surgery or direct visualization of germ cell tumors. Here, we report two cases of germ cell tumors in which a positive 5-ALA fluorescent signal was visualized with a neuroendoscope. Both cases had a tumor in the pineal region that was associated with hydrocephalus. The patients underwent surgery after administration of 5-ALA...
May 20, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28528193/novel-missense-loss-of-function-mutations-of-wnt1-in-an-autosomal-recessive-osteogenesis-imperfecta-patient
#14
Joon Yeon Won, Woo Young Jang, Hye-Ran Lee, Seon Young Park, Woo-Young Kim, Jong Hoon Park, Yonghwan Kim, Tae-Joon Cho
Osteogenesis imperfecta (OI) is a heritable skeletal disorder characterized by bone fragility and low bone mass. Recently, loss-of-function mutations of WNT1 have been reported to be causative in OI or osteoporosis. We report an OI patient with novel compound heterozygous WNT1 missense mutations, p.Glu123Asp and p.Cys153Gly. Both mutations are found in the exon 3, and the p.Glu123Asp is the most proximal N-terminus missense mutation among the reported WNT1 missense mutations in OI patients. In vitro functional analysis reveals that while expression of wildtype WNT1 stimulates canonical WNT1-mediated β-catenin signaling, that of individual WNT1 mutant fails to do so, indicative of the pathogenic nature of the WNT1 variants...
May 17, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28527894/hfe-genotype-affects-exosome-phenotype-in-cancer
#15
Oliver D Mrowczynski, A B Madhankumar, Becky Slagle-Webb, Sang Y Lee, Brad E Zacharia, James R Connor
Neuroblastoma is the third most common childhood cancer, and timely diagnosis and sensitive therapeutic monitoring remain major challenges. Tumor progression and recurrence is common with little understanding of mechanisms. A major recent focus in cancer biology is the impact of exosomes on metastatic behavior and the tumor microenvironment. Exosomes have been demonstrated to contribute to the oncogenic effect on the surrounding tumor environment and also mediate resistance to therapy. The effect of genotype on exosomal phenotype has not yet been explored...
May 17, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28527655/variability-of-preoperative-measurements-in-intermittent-exotropia-and-its-effect-on-surgical-outcome
#16
Won Jae Kim, Myung Mi Kim
PURPOSE: To investigate the variability of preoperative measurements in patients with intermittent exotropia and to compare surgical outcomes according to the variability. METHODS: Patients who underwent unilateral lateral rectus recession and medial rectus resection and had 24 months' postoperative follow-up were enrolled. Patients were divided into three groups according to variability, which was defined as the largest angle minus the smallest angle ever measured during the preoperative visits; group C comprised patients with consistent exodeviation; group VL, patients with less variability (<10(Δ)); and group VM, patients with more variability (≥10(Δ))...
May 17, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28527629/p62-sequestosome-1-knockout-delays-neurodegeneration-induced-by-drp1-loss
#17
Tatsuya Yamada, Yoshihiro Adachi, Toru Yanagawa, Miho Iijima, Hiromi Sesaki
Purkinje neurons, one of the largest neurons in the brain, are critical for controlling body movements, and the dysfunction and degeneration of these cells cause ataxia. Purkinje neurons require a very efficient energy supply from mitochondria because of their large size and extensive dendritic arbors. We have previously shown that mitochondrial division mediated by dynamin-related protein 1 (Drp1) is critical for the development and survival of Purkinje neurons. Drp1 deficiency has been associated with one of the major types of ataxia: autosomal recessive spastic ataxia of Charlevoix Saguenay...
May 17, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28526001/postoperative-full-abduction-in-a-patient-of-duane-retraction-syndrome-without-an-abducens-nerve-a-case-report
#18
Jae Hyoung Kim, Jeong-Min Hwang
BACKGROUND: Duane retraction syndrome (DRS) consists of abduction deficit, globe retraction and upshoots or downshoots with adduction. The abducens nerve on the affected side is absent in type 1 DRS. After bilateral medial rectus muscle recession in unilateral type 1 DRS may improve the abduction limitation, but still more than -3 limitation remains. CASE PRESENTATION: A 6-month-old boy presented with esotropia which had been noticed in early infancy. He showed limited abduction, fissure narrowing on attempted adduction and a small upshoot OS...
May 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28525983/polymorphisms-of-t-helper-cell-cytokine-associated-genes-and-survival-of-hemodialysis-patients-a-prospective-study
#19
Alicja E Grzegorzewska, Monika K Świderska, Adrianna Mostowska, Wojciech Warchoł, Paweł P Jagodziński
BACKGROUND: Circulating pro-inflammatory cytokines were associated with increased relative mortality risk, while immune parameters reflecting improved T-cell function were predictors of survival in hemodialysis (HD) patients. We evaluated in the prospective study whether variants in T helper cell cytokine-associated genes are determinants of mortality in HD patients. METHODS: The study was carried out in 532 prevalent HD subjects who were followed-up for 7 years...
May 19, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28525504/reassessing-recess-in-pursuit-of-the-golden-ratio-of-hemostatic-components-to-red-blood-cells
#20
Michael A Mazzeffi, David Faraoni, Kenichi A Tanaka
No abstract text is available yet for this article.
June 2017: Anesthesia and Analgesia
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