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https://www.readbyqxmd.com/read/28532942/robot-assisted-simulated-cataract-surgery
#1
Tristan Bourcier, Jimmy Chammas, Pierre-Henri Becmeur, Arnaud Sauer, David Gaucher, Philippe Liverneaux, Jacques Marescaux, Didier Mutter
PURPOSE: To evaluate the feasibility of robot-assisted simulated cataract surgery. SETTING: Institut de Recherche Contre les Cancers de l'Appareil Digestif, European Institute of Telesurgery, and Strasbourg University Hospital, Strasbourg, France. DESIGN: Experimental study. METHODS: Cataract surgeries were performed on a Kitaro cataract wet-lab training system simultaneously using the Da Vinci Xi robotic surgical system and the Whitestar Signature phacoemulsification system...
April 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28532689/lipid-composition-of-microdomains-is-altered-in-neuronopathic-gaucher-disease-sheep-brain-and-spleen
#2
Leanne K Hein, Tina Rozaklis, Melissa K Adams, John J Hopwood, Litsa Karageorgos
Gaucher disease is a lysosomal storage disorder caused by a deficiency in glucocerebrosidase activity that leads to accumulation of glucosylceramide and glucosylsphingosine. Membrane raft microdomains are discrete, highly organized microdomains with a unique lipid composition that provide the necessary environment for specific protein-lipid and protein-protein interactions to take place. In this study we purified detergent resistant membranes (DRM; membrane rafts) from the occipital cortex and spleen from sheep affected with acute neuronopathic Gaucher disease and wild-type controls...
May 17, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28527173/gaucher-disease-presenting-in-an-adult-with-intracerebral-bleed
#3
Sandeep Nemani, Bhumi Agrawal, Sumita Danda, Biju George
Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but occasional cases can present in adulthood. Here we report a case of type I GD in a 37 year old female who presented with intracerebral bleed due to long standing thrombocytopenia. She underwent splenectomy in view of limited resources for enzyme replacement therapy. With splenectomy her platelet counts normalised and neurological status also improved.
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28506293/case-report-of-unexpected-gastrointestinal-involvement-in-type-1-gaucher-disease-comparison-of-eliglustat-tartrate-treatment-and-enzyme-replacement-therapy
#4
Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo
BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both...
May 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28485919/stabilization-of-glucocerebrosidase-by-active-site-occupancy
#5
Fredj Ben Bdira, Wouter W Kallemeijn, Saskia V Oussoren, Saskia Scheij, Boris Bleijlevens, Cindy P A A van Roomen, Roelof Ottenhoff, Marielle J F M van Kooten, Marthe T C Walvoort, Martin D Witte, Rolf G Boot, Marcellus Ubbink, Herman S Overkleeft, Johannes M F G Aerts
Glucocerebrosidase (GBA) is a retaining lysosomal β-glucosidase degrading glucosylceramide. Its deficiency results in Gaucher disease (GD). We examined the effects of active site occupancy of GBA on its structural stability. For this we made use of cyclophellitol-derived activity-based probes (ABPs) that bind irreversibly to the catalytic nucleophile E340 and for comparison the potent reversible inhibitor, isofagomine. We demonstrate that cyclophellitol ABPs improve GBA stability in vitro as revealed by thermodynamic measurements (Tm increase by 21 °C) and introduce resistance to tryptic digestion...
May 9, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28477283/linking-mitochondrial-dysfunction-to-neurodegeneration-in-lysosomal-storage-diseases
#6
REVIEW
Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Darius Ebrahimi-Fakhari
Lysosomal storage diseases (LSD) are inborn errors of metabolism resulting in multisystem disease. Central nervous system involvement, often with progressive neurodegeneration, accounts for a large portion of the morbidity and mortality seen in many LSD. Available treatments fail to prevent or correct neurologic symptoms and decline. Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. Mitochondrial dysfunction in LSD is characterized by alterations in mitochondrial mass, morphology and function...
May 5, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28473289/oxytocin-administration-during-spontaneous-labor-guidelines-for-clinical-practice-chapter-2-indications-of-oxytocin-according-the-first-and-second-stages-of-spontaneous-labor
#7
https://www.readbyqxmd.com/read/28469644/the-emerging-role-of-autophagic-lysosomal-dysfunction-in-gaucher-disease-and-parkinson-s-disease
#8
REVIEW
Kerri J Kinghorn, Amir M Asghari, Jorge Iván Castillo-Quan
Gaucher disease (GD), the commonest lysosomal storage disorder, results from the lack or functional deficiency of glucocerebrosidase (GCase) secondary to mutations in the GBA1 gene. There is an established association between GBA1 mutations and Parkinson's disease (PD), and indeed GBA1 mutations are now considered to be the greatest genetic risk factor for PD. Impaired lysosomal-autophagic degradation of cellular proteins, including α-synuclein (α-syn), is implicated in the pathogenesis of PD, and there is increasing evidence for this also in GD and GBA1-PD...
March 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28468677/diagnosis-features-of-pediatric-gaucher-disease-patients-in-the-era-of-enzymatic-therapy-a-national-base-study-from-the-spanish-registry-of-gaucher-disease
#9
Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Judith Armstrong, Carmen Calvo, Jaime Dalmau, Maria-Rosario Domingo, Jose-Luis Barbera, Horacio Cano, Maria-Angeles Fernandez-Galán, Rafael Franco, Inmaculada Gracia, Miguel Gracia-Antequera, Angela Ibañez, Francisco Lendinez, Marcos Madruga, Elena Martin-Hernández, Maria Del Mar O'Callaghan, Alberto Pérez Del Soto, Yolanda Ruiz Del Prado, Ignacio Sancho-Val, Pablo Sanjurjo, Miguel Pocovi, Pilar Giraldo
BACKGROUND: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients...
May 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28457694/a-rare-form-of-gaucher-disease-resulting-from-saposin-c-deficiency
#10
Lulu Kang, Xia Zhan, Jun Ye, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Huiwen Zhang
Gaucher disease is mainly caused by the deficiency of lysosomal acid β-glucosidase. Gaucher disease caused by the deficiency of saposin C is rare. Here we report a patient mainly presenting with hepatosplenomegaly, thrombocytopenia and anemia. EEG examination revealed increased theta waves. Gaucher cells identified in his bone marrow and the highly elevated plasma chitotriosidase activity and glucosylsphingosine supported a diagnosis of Gaucher disease. However, the leukocyte β-glucosidase activity was in a normal range...
April 3, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#11
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28456989/methods-for-determination-of-%C3%AE-glycosidase-%C3%AE-glycosidase-and-%C3%AE-galactosidase-activities-in-dried-blood-spot-samples
#12
Eser Yıldırım Sozmen, Ebru Demirel Sezer
The lysosomal storage diseases (LDSs) are a heterogeneous group of inherited genetic disorders caused by defects of lysosomal proteins. The accumulation of undigested substrates from different catabolic pathways leads to cellular dysfunction. LSDs generally presents during early childhood and have a devastating impact on the families and on public health. Over the years, approaches for treatment of some LSDs have been developed with different strategies. Increasing availability of treatments of these diseases has accelerated the development of new methods and techniques for rapid diagnosis in patients with clinical indication...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28453374/intraocular-cytokine-levels-in-post-cataract-endophthalmitis-and-their-association-with-visual-outcome
#13
Arnaud Sauer, Ermanno Candolfi, David Gaucher, Catherine Creuzot-Garcher, Alain Bron, Christophe Chiquet, Jean-Paul Berrod, Nicolas Meyer, Gilles Prevost, Tristan Bourcier
PURPOSE: The host immune reaction during endophthalmitis, studied in particular through the intraocular cytokine network, is essential for the comprehension of the disease and the development of new therapies. Therefore, the purpose of this study was to elucidate the cytokine composition of aqueous humor during endophthalmitis. METHODS: In a multicenter case-control study, forty-nine patients with postoperative endophthalmitis and 60 controls (cataract surgery) were included...
April 28, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28450571/encore-oral-therapy-for-type-1-gaucher-disease
#14
Neal J Weinreb
No abstract text is available yet for this article.
April 27, 2017: Blood
https://www.readbyqxmd.com/read/28438699/cryptic-diversity-in-amazonian-frogs-integrative-taxonomy-of-the-genus-anomaloglossus-amphibia-anura-aromobatidae-reveals-a-unique-case-of-diversification-within-the-guiana-shield
#15
Jean-Pierre Vacher, Philippe J R Kok, Miguel T Rodrigues, Jucivaldo Dias Lima, Andy Lorenzini, Quentin Martinez, Manon Fallet, Elodie A Courtois, Michel Blanc, Philippe Gaucher, Maël Dewynter, Rawien Jairam, Paul Ouboter, Christophe Thébaud, Antoine Fouquet
Lack of resolution on species boundaries and distribution can hamper inferences in many fields of biology, notably biogeography and conservation biology. This is particularly true in megadiverse and under-surveyed regions such as Amazonia, where species richness remains vastly underestimated. Integrative approaches using a combination of phenotypic and molecular evidence have proved extremely successful in reducing knowledge gaps in species boundaries, especially in animal groups displaying high levels of cryptic diversity like amphibians...
April 21, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28430167/induced-pluripotent-stem-cell-modeling-of-gaucher-s-disease-what-have-we-learned
#16
REVIEW
Dino Matias Santos, Gustavo Tiscornia
Gaucher's disease (GD) is the most frequently inherited lysosomal storage disease, presenting both visceral and neurologic symptoms. Mutations in acid β-glucocerebrosidase disrupt the sphingolipid catabolic pathway promoting glucosylceramide (GlcCer) accumulation in lysosomes. Current treatment options are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). However, neither of these approaches is effective in treating the neurological aspect of the disease. The use of small pharmacological compounds that act as molecular chaperones is a promising approach that is still experimental...
April 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28427477/plasma-chitotriosidase-activity-versus-ccl18-level-for-assessing-type-i-gaucher-disease-severity-protocol-for-a-systematic-review-with-meta-analysis-of-individual-participant-data
#17
Tatiana Raskovalova, Patrick B Deegan, Ruby Yang, Elena Pavlova, Jérome Stirnemann, José Labarère, Ari Zimran, Pramod K Mistry, Marc Berger
BACKGROUND: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. GD exhibits a wide clinical spectrum of disease severity with an unpredictable natural course. Plasma chitotriosidase activity and CC chemokine ligand 18 (CCL18) have been exchangeably used for monitoring GD activity and response to enzyme replacement therapy in conjunction with clinical assessment. Yet, a large-scale head-to-head comparison of these two biomarkers is currently lacking...
April 20, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28427157/the-anti-tumor-efficacy-of-3c23k-a-glyco-engineered-humanized-anti-misrii-antibody-in-an-ovarian-cancer-model-is-mainly-mediated-by-engagement-of-immune-effector-cells
#18
Pauline Estupina, Alexandre Fontayne, Jean-Marc Barret, Nathalie Kersual, Olivier Dubreuil, Marion Le Blay, Alexandre Pichard, Marta Jarlier, Martine Pugnière, Maëva Chauvin, Thierry Chardès, Jean-Pierre Pouget, Emmanuel Deshayes, Alexis Rossignol, Toufik Abache, Christophe de Romeuf, Aurélie Terrier, Lucie Verhaeghe, Christine Gaucher, Jean-François Prost, André Pèlegrin, Isabelle Navarro-Teulon
Ovarian cancer is the leading cause of death in women with gynecological cancers and despite recent advances, new and more efficient therapies are crucially needed. Müllerian Inhibiting Substance type II Receptor (MISRII, also named AMHRII) is expressed in most ovarian cancer subtypes and is a novel potential target for ovarian cancer immunotherapy. We previously developed and tested 12G4, the first murine monoclonal antibody (MAb) against human MISRII. Here, we report the humanization, affinity maturation and glyco-engineering steps of 12G4 to generate the Fc-optimized 3C23K MAb, and the evaluation of its in vivo anti-tumor activity...
February 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28402003/bronchoalveolar-lavage-fluid-in-an-infant-with-perinatal-lethal-gaucher-disease
#19
Hiroyuki Adachi, Atsuko Noguchi, Shozo Ota, Tsutomu Takahashi, Hiroshi Nanjo
No abstract text is available yet for this article.
April 12, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28401966/stereodivergent-synthesis-of-right-and-left-handed-iminoxylitol-heterodimers-and-monomers-study-of-their-impact-on-%C3%AE-glucocerebrosidase-activity
#20
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, Helen Michelakakis, Irene Mavridou, Daniel Grinberg, Lluïsa Vilageliu, Josefina Casas, Anne Bodlenner, Antonio Delgado, Philippe Compain
A library of dimers and heterodimers of both enantiomers of 2-O-alkylated iminoxylitol derivatives has been synthesised and evaluated on β-glucocerebrosidase (GCase), the enzyme responsible for Gaucher disease (GD). Although the objective was to target simultaneously the active site and a secondary binding site of the glucosidase, the (-)-2-iminoxylitol moiety seemed detrimental for imiglucerase inhibition and no significant enhancement was obtained in G202R, N370S and L444P fibroblasts. However, all compounds having at least one (+)-2-O-alkyl iminoxylitol are GCase inhibitors in the nano molar range and are significant GCase activity enhancers in G202R fibroblats, as confirmed by a decrease of glucosylceramide levels and by co-localization studies...
May 3, 2017: Organic & Biomolecular Chemistry
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