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https://www.readbyqxmd.com/read/28402758/the-graft-bending-angle-can-affect-early-graft-healing-after-anterior-cruciate-ligament-reconstruction-in-vivo-analysis-with-2-years-follow-up
#1
Yasutaka Tashiro, Tom Gale, Vani Sundaram, Kanto Nagai, James J Irrgang, William Anderst, Yasuharu Nakashima, Scott Tashman, Freddie H Fu
BACKGROUND: A high graft bending angle (GBA) after anterior cruciate ligament (ACL) reconstruction has been suggested to cause stress on the graft. Nevertheless, evidence about its effect on graft healing in vivo is limited. HYPOTHESIS: The signal intensity on magnetic resonance imaging (MRI) would be higher in the proximal region of the ACL graft, and higher signals would be correlated to a higher GBA. STUDY DESIGN: Descriptive laboratory study...
April 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28399184/genetic-factors-influencing-frontostriatal-dysfunction-and-the-development-of-dementia-in-parkinson-s-disease
#2
Ismael Huertas, Silvia Jesús, Francisco Javier García-Gómez, José Antonio Lojo, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, Juan Francisco Martín-Rodriguez, David García-Solís, Pilar Gómez-Garre, Pablo Mir
The dual syndrome hypothesis for cognitive impairment in Parkinson's disease (PD) establishes a dichotomy between a frontrostriatal dopamine-mediated syndrome, which leads to executive deficits, and a posterior cortical syndrome, which leads to dementia. Certain genes have been linked to these syndromes although the exact contribution is still controversial. The study's objective was to investigate the role of APOE, MAPT, COMT, SNCA and GBA genes in the dual syndromes. We genotyped APOE (rs429358 and rs7412), MAPT (rs9468), COMT (rs4680) and SNCA (rs356219) risk polymorphisms and sequenced GBA in a cohort of 298 PD patients...
2017: PloS One
https://www.readbyqxmd.com/read/28396248/age-and-gender-specific-reference-intervals-for-lysosomal-enzymes-in-dried-blood-spot-samples-a-study-in-indian-population
#3
Manjunath Supriya, Tanima De, Rita Christopher
OBJECTIVES: The study aimed to establish age and gender-specific reference values for the activities of lysosomal enzymes (acid α-galactosidase [GLA], acid β-glucocerebrosidase [GBA], acid α-glucosidase [GAA], acid sphingomyelinase [ASM] and galactocerebrosidase [GALC]) in dried blood spots (DBS) of Indian population. DESIGN AND METHODS: A total of 3797 healthy Indian subjects (1456 females and 2341 males) aged from 2days to 60years were selected for the study...
April 7, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28361101/a-molecular-analysis-of-the-gba-gene-in-caucasian-south-africans-with-parkinson-s-disease
#4
Melinda Barkhuizen, David G Anderson, Francois H van der Westhuizen, Anne F Grobler
BACKGROUND: The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the GBA gene are the most common large-effect genetic risk factor for Parkinson's disease. The primary objective of this study was to determine the prevalence of GBA substitutions in South Africans with idiopathic Parkinson's disease. METHODS: Participants were recruited from tertiary hospitals in the Gauteng Province in South Africa...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28357185/microdeletion-of-chromosome-1q21-3-in-fraternal-twins-is-associated-with-mental-retardation-microcephaly-and-epilepsy
#5
Fatma Mujgan Sonmez, Eyyup Uctepe, Dilek Aktas, Mehmet Alikasifoglu
Reported here are twins, both of whom have a 1q21.3 microdeletion and who exhibit key features common to previously reported cases such as microcephaly and developmental delay. However, some clinical findings and deleted genes differed from those in previously reported cases. The karyotype was normal 46, XX for both of the twins. Array comparative genomic hybridization (CGH) identified a 2.6 Mb deletion on chromosome 1q21.3 (chr1: 153,514,121-156,171,335 bp) in case 1 and a 1.6 Mb deletion on chromosome 1q21...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28356566/successful-newborn-screening-for-gaucher-disease-using-fluorometric-assay-in-china
#6
Lulu Kang, Xia Zhan, Xuefan Gu, Huiwen Zhang
Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. Determining the true incidence of this rare disease is critical for relevant policy establishment. Newborn screening allows for early diagnosis and an comparatively accurate incidence of GD. A fluorometric method to detect acid β-glucocerebrosidase (GBA) activity on a dried blood spot punch was developed...
March 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28343809/in%C3%A2-vivo-analysis-of-dynamic-graft-bending-angle-in-anterior-cruciate-ligament-reconstructed-knees-during-downward-running-and-level-walking-comparison-of-flexible-and-rigid-drills-for-transportal-technique
#7
Yasutaka Tashiro, Vani Sundaram, Eric Thorhauer, Tom Gale, William Anderst, James J Irrgang, Freddie H Fu, Scott Tashman
PURPOSE: To determine the in vivo dynamic graft bending angle (GBA) in anterior cruciate ligament (ACL)-reconstructed knees, correlate the angle to tunnel positions and tunnel widening, and evaluate the effects of 2 femoral tunnel drilling techniques on GBA. METHODS: Patients with an isolated ACL injury undergoing reconstruction from 2011 to 2012 were included. Transportal techniques were used to create femoral tunnels. Tunnel locations were determined by 3-dimensional computed tomography...
March 23, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28337284/hepatoprotective-effects-of-gentianella-turkestanerum-extracts-on-acute-liver-injury-induced-by-carbon-tetrachloride-in-mice
#8
Jianghua Yang, Dandan Zhu, Bowei Ju, Xiangying Jiang, Junping Hu
Objective: To investigate the contents of secoiridoid compounds (i.e. sweroside, swertiamarin and gentiopicrin) from Gentianella turkestanerum extracts, and the potential effects of G. turkestanerum extracts against carbon tetrachloride (CCl4) induced liver injury in mice. Methods: The contents of swertiamarin, gentiopicroside and sweroside from different G. turkestanerum extracts were determined with high performance liquid chromatography (HPLC). CCl4 was used to induce acute liver injury in mice. The serum aspartate amino transferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), total protein (TP), total bilirubin (TB), superoxide dismutase (SOD), malondialdehyde (MDA), glutathione transferase (GSH) and catalase (CAT) were measured...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28328014/n-guanidino-derivatives-of-1-5-dideoxy-1-5-imino-d-xylitol-are-potent-selective-and-stable-inhibitors-of-%C3%AE-glucocerebrosidase
#9
Alen Sevšek, Luka Šrot, Jakob Rihter, Maša Čelan, Linda Quarles van Ufford, Ed E Moret, Nathaniel I Martin, Roland J Pieters
A series of lipidated guanidino and urea derivatives of 1,5-dideoxy-1,5-imino-d-xylitol were prepared from d-xylose using a concise synthetic protocol. Inhibition assays with a panel of glycosidases revealed that the guanidino analogues display potent inhibition against human recombinant β-glucocerebrosidase with IC50 values in the low nanomolar range. Related urea analogues of 1,5-dideoxy-1,5-imino-d-xylitol were also synthesized and evaluated in the same fashion and found to be selective for β-galactosidase from bovine liver...
March 22, 2017: ChemMedChem
https://www.readbyqxmd.com/read/28294056/prediction-of-the-ebola-virus-infection-related-human-genes-using-protein-protein-interaction-network
#10
HuanHuan Cao, YuHang Zhang, Jia Zhao, Liucun Zhu, Yi Wang, JiaRui Li, Yuanming Feng, Ning Zhang
Ebola hemorrhagic fever (EHF) is caused by Ebola virus (EBOV). It is reported that human could be infected by EBOV with a high fatality rate. However, association factors between EBOV and host still tend to be ambiguous. According to the "guilt by association" (GBA) principle, proteins interacting with each other are very likely to function similarly or the same. Based on this assumption, we tried to obtain EBOV infection-related human genes in a protein-protein interaction network using Dijkstra algorithm...
March 10, 2017: Combinatorial Chemistry & High Throughput Screening
https://www.readbyqxmd.com/read/28286087/minos-insertion-mutant-of-the-drosophila-gba-gene-homologue-showed-abnormal-phenotypes-of-climbing-ability-sleep-and-life-span-with-accumulation-of-hydroxy-glucocerebroside
#11
Haruhisa Kawasaki, Takahiro Suzuki, Kumpei Ito, Tsubasa Takahara, Naoko Goto-Inoue, Mitsutoshi Setou, Kazuki Sakata, Norio Ishida
Gaucher's disease in humans is considered a deficiency of glucocerebrosidase (GlcCerase) that result in the accumulation of its substrate, glucocerebroside (GlcCer). Although mouse models of Gaucher's disease have been reported from several laboratories, these models are limited due to the perinatal lethality of GlcCerase gene. Here, we examined phenotypes of Drosophila melanogaster homologues genes of the human Gaucher's disease gene by using Minos insertion. One of two Minos insertion mutants to unknown function gene (CG31414) accumulates the hydroxy-GlcCer in whole body of Drosophila melanogaster...
May 30, 2017: Gene
https://www.readbyqxmd.com/read/28257128/cognitive-decline-in-parkinson-disease
#12
REVIEW
Dag Aarsland, Byron Creese, Marios Politis, K Ray Chaudhuri, Dominic H Ffytche, Daniel Weintraub, Clive Ballard
Dementia is a frequent problem encountered in advanced stages of Parkinson disease (PD). In recent years, research has focused on the pre-dementia stages of cognitive impairment in PD, including mild cognitive impairment (MCI). Several longitudinal studies have shown that MCI is a harbinger of dementia in PD, although the course is variable, and stabilization of cognition - or even reversal to normal cognition - is not uncommon. In addition to limbic and cortical spread of Lewy pathology, several other mechanisms are likely to contribute to cognitive decline in PD, and a variety of biomarker studies, some using novel structural and functional imaging techniques, have documented in vivo brain changes associated with cognitive impairment...
April 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28223512/glucosylceramide-synthase-inhibition-alleviates-aberrations-in-synucleinopathy-models
#13
S Pablo Sardi, Catherine Viel, Jennifer Clarke, Christopher M Treleaven, Amy M Richards, Hyejung Park, Maureen A Olszewski, James C Dodge, John Marshall, Elina Makino, Bing Wang, Richard L Sidman, Seng H Cheng, Lamya S Shihabuddin
Mutations in the glucocerebrosidase gene (GBA) confer a heightened risk of developing Parkinson's disease (PD) and other synucleinopathies, resulting in a lower age of onset and exacerbating disease progression. However, the precise mechanisms by which mutations in GBA increase PD risk and accelerate its progression remain unclear. Here, we investigated the merits of glucosylceramide synthase (GCS) inhibition as a potential treatment for synucleinopathies. Two murine models of synucleinopathy (a Gaucher-related synucleinopathy model, Gba(D409V/D409V) and a A53T-α-synuclein overexpressing model harboring wild-type alleles of GBA, A53T-SNCA mouse model) were exposed to a brain-penetrant GCS inhibitor, GZ667161...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28220571/genetic-risk-factors-for-cognitive-decline-in-parkinson-s-disease-a-review-of-the-literature
#14
REVIEW
E S Fagan, L Pihlstrøm
Parkinson's disease is a highly heterogeneous disorder, where genetic factors are likely to contribute to clinical variability, including susceptibility to cognitive impairment and dementia. Monogenic forms of parkinsonism show distinct cognitive profiles, yet less is known about the impact of common genetic variants on cognition in sporadic Parkinson's disease. In a systematic review of the literature, the current results from genetic association studies of cognitive outcomes are summarized and prospects and challenges for future studies are discussed...
April 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28207759/investigations-on-therapeutic-glucocerebrosidases-through-paired-detection-with-fluorescent-activity-based-probes
#15
Wouter W Kallemeijn, Saskia Scheij, Sascha Hoogendoorn, Martin D Witte, Daniela Herrera Moro Chao, Cindy P A A van Roomen, Roelof Ottenhoff, Herman S Overkleeft, Rolf G Boot, Johannes M F G Aerts
Deficiency of glucocerebrosidase (GBA) causes Gaucher disease (GD). In the common non-neuronopathic GD type I variant, glucosylceramide accumulates primarily in the lysosomes of visceral macrophages. Supplementing storage cells with lacking enzyme is accomplished via chronic intravenous administration of recombinant GBA containing mannose-terminated N-linked glycans, mediating the selective uptake by macrophages expressing mannose-binding lectin(s). Two recombinant GBA preparations with distinct N-linked glycans are registered in Europe for treatment of type I GD: imiglucerase (Genzyme), contains predominantly Man(3) glycans, and velaglucerase (Shire PLC) Man(9) glycans...
2017: PloS One
https://www.readbyqxmd.com/read/28124432/detection-of-genomic-rearrangements-from-targeted-resequencing-data-in-parkinson-s-disease-patients
#16
Nino Spataro, Ana Roca-Umbert, Laura Cervera-Carles, Mònica Vallès, Roger Anglada, Javier Pagonabarraga, Berta Pascual-Sedano, Antònia Campolongo, Jaime Kulisevsky, Ferran Casals, Jordi Clarimón, Elena Bosch
BACKGROUND: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. METHODS: Gene dose alterations were detected with the eXome-Hidden Markov Model (XHMM) software from depth of coverage in resequencing data available for 38 Mendelian and other risk PD loci in 394 individuals (249 cases and 145 controls) and subsequently validated by quantitative PCR...
January 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28098793/osteocyte-alterations-induce-osteoclastogenesis-in-an-in-vitro-model-of-gaucher-disease
#17
Constanza Bondar, Maximiliano Ormazabal, Andrea Crivaro, Malena Ferreyra-Compagnucci, María Victoria Delpino, Paula Adriana Rozenfeld, Juan Marcos Mucci
Gaucher disease (GD) is caused by mutations in the glucosylceramidase β (GBA 1) gene that confer a deficient level of activity of glucocerebrosidase (GCase). This deficiency leads to the accumulation of the glycolipid glucocerebroside in the lysosomes of cells, mainly in the monocyte/macrophage lineage. Its mildest form is Type I GD, characterized by non-neuronopathic involvement. Bone compromise is the most disabling aspect of the Gaucher disease. However, the pathophysiological aspects of skeletal alterations are not yet fully understood...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#18
Tiziana Squillaro, Antonucci Ivana, Nicola Alessio, Anna Esposito, Marilena Cipollaro, Marina Melone, Gianfranco Peluso, Liborio Stuppia, Umberto Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD), and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28090684/predict-pd-an-online-approach-to-prospectively-identify-risk-indicators-of-parkinson-s-disease
#19
Alastair J Noyce, Lea R'Bibo, Luisa Peress, Jonathan P Bestwick, Kerala L Adams-Carr, Niccolo E Mencacci, Christopher H Hawkes, Joseph M Masters, Nicholas Wood, John Hardy, Gavin Giovannoni, Andrew J Lees, Anette Schrag
BACKGROUND: A number of early features can precede the diagnosis of Parkinson's disease (PD). OBJECTIVE: To test an online, evidence-based algorithm to identify risk indicators of PD in the UK population. METHODS: Participants aged 60 to 80 years without PD completed an online survey and keyboard-tapping task annually over 3 years, and underwent smell tests and genotyping for glucocerebrosidase (GBA) and leucine-rich repeat kinase 2 (LRRK2) mutations...
February 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28040394/long-term-hematological-visceral-and-growth-outcomes-in-children-with-gaucher-disease-type-3-treated-with-imiglucerase-in-the-international-collaborative-gaucher-group-gaucher-registry
#20
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series...
December 6, 2016: Molecular Genetics and Metabolism
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