keyword
MENU ▼
Read by QxMD icon Read
search

Gauchers disease

keyword
https://www.readbyqxmd.com/read/28727984/gba-analysis-in-next-generation-era-pitfalls-challenges-and-possible-solutions
#1
Stefania Zampieri, Silvia Cattarossi, Bruno Bembi, Andrea Dardis
Mutations in the gene encoding the lysosomal enzyme acid β-glucosidase (GBA) are responsible for Gaucher disease and represent the main genetic risk factor for developing Parkinson disease. In past years, next-generation sequencing (NGS) technology has been applied for the molecular analysis of the GBA gene, both as a single gene or as part of gene panels. However, the presence of complex gene-pseudogene rearrangements, resulting from the presence of a highly homologous pseudogene (GBAP1) located downstream of the GBA gene, makes NGS analysis of GBA challenging...
July 17, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28721335/investigation-of-newborns-with-abnormal-results-in-a-newborn-screening-program-for-four-lysosomal-storage-diseases-in-brazil
#2
Heydy Bravo, Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Claudio Sampaio Filho, Fernanda Bittencourt, Fernanda Sebastião, Fernanda Bender, Ana Paula Scholz de Magalhães, Régis Guidobono, Franciele Barbosa Trapp, Kristiane Michelin-Tirelli, Carolina F M Souza, Diana Rojas Málaga, Gabriela Pasqualim, Ana Carolina Brusius-Facchin, Roberto Giugliani
Lysosomal storage diseases (LSDs) are genetic disorders, clinically heterogeneous, mainly caused by defects in genes encoding lysosomal enzymes that degrade macromolecules. Several LSDs already have specific therapies that may improve clinical outcomes, especially if introduced early in life. With this aim, screening methods have been established and newborn screening (NBS) for some LSDs has been developed. Such programs should include additional procedures for the confirmation (or not) of the cases that had an abnormal result in the initial screening...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28714776/tissue-localization-of-glycosphingolipid-accumulation-in-a-gaucher-disease-mouse-brain-by-lc-esi-ms-ms-and-high-resolution-maldi-imaging-mass-spectrometry
#3
E Ellen Jones, Wujuan Zhang, Xueheng Zhao, Cristine Quiason, Stephanie Dale, Sheerin Shahidi-Latham, Gregory A Grabowski, Kenneth D R Setchell, Richard R Drake, Ying Sun
To better understand regional brain glycosphingolipid (GSL) accumulation in Gaucher disease (GD) and its relationship to neuropathology, a feasibility study using mass spectrometry and immunohistochemistry was conducted using brains derived from a GD mouse model (4L/PS/NA) homozygous for a mutant GCase (V394L [4L]) and expressing a prosaposin hypomorphic (PS-NA) transgene. Whole brains from GD and control animals were collected using one hemisphere for MALDI FTICR IMS analysis and the other for quantitation by LC-ESI-MS/MS...
July 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28702360/treatment-of-profound-thrombocytopenia-in-a-patient-with-gaucher-disease-type-1-is-there-a-role-for-substrate-reduction-therapy
#4
Christine I Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S Kishnani
The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the literature regarding individual drug effectiveness in treating particular symptoms and the potential benefits of combination treatment. This report details treatment of a patient with Gaucher disease type 1 whose main clinical concern was profound thrombocytopenia (around 20 × 10(9)/L, normal range: 150-450 × 10(9)/L) with several episodes of bleeding with minimal trauma and bruises...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28699604/torsion-of-a-wandering-spleen-in-an-adolescent-with-gaucher-disease
#5
Şükrü Güngör, Mehmet Öztürk, Fatma İlknur Varol, Ahmet Sığırcı, Mukadder Ayşe Selimoğlu
A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a wandering spleen, literature shows only one report of a wandering spleen in a child with Gaucher disease. In this case presentation, a 13-year-oldadolescent with Gaucher disease on enzyme replacement treatment was presented, who was detected having an abdominal mass on a routine visit and diagnosed with partial torsion of a wandering spleen associated with left lobe hypoplasia of the liver...
July 2017: Turkish Journal of Gastroenterology: the Official Journal of Turkish Society of Gastroenterology
https://www.readbyqxmd.com/read/28693786/skeletal-involvement-in-type-1-gaucher-disease-not-just-bone-mineral-density
#6
M Baldini, G Casirati, F M Ulivieri, E Cassinerio, K Khouri Chalouhi, E Poggiali, L Borin, V Burghignoli, B M Cesana, M D Cappellini
Gaucher disease is characterized by multi-organ infiltration of phospholipid-laden macrophages. Bone involvement is characterized by typical deformities, osteopenia/osteoporosis, pathological fractures, and bone marrow infiltration (avascular osteonecrosis, infarction). Estimation of skeletal disease includes bone quality that contributes substantially to bone strength. We studied 23 type 1 Gaucher patients (median age 22years, range 3-73) on Enzyme Replacement Therapy from 2months to 26years (median 7years); 4 patients had pathological fractures, 10 bone infarctions, 6 avascular osteonecrosis...
June 16, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28692917/tuning-of-%C3%AE-glucosidase-and-%C3%AE-galactosidase-inhibition-by-generation-and-in-situ-screening-of-a-library-of-pyrrolidine-triazole-hybrid-molecules
#7
Macarena Martínez-Bailén, Ana T Carmona, Elena Moreno-Clavijo, Inmaculada Robina, Daisuke Ide, Atsushi Kato, Antonio J Moreno-Vargas
The preliminary screening of two libraries of epimeric (pyrrolidin-2-yl)triazoles (14a-s and 22a-s), generated via click chemistry, allowed the rapid identification of four α-galactosidase (coffee beans) inhibitors (22b,k,p,r) and two β-glucosidase (almond) inhibitors (14b,f) in the low μM range. The additional biological analysis of 14b,f towards β-glucocerebrosidase (human lysosomal β-glucosidase), as target enzyme for Gaucher disease, showed a good correlation with the inhibition results obtained for the plant (almond) enzyme...
June 27, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28690585/saccadic-impairments-in-patients-with-the-norrbottnian-form-of-gaucher-s-disease-type-3
#8
Josefine Blume, Stanislav Beniaminov, Cecilia Kämpe Björkvall, Maciej Machaczka, Per Svenningsson
BACKGROUND: Chronic neuronopathic Gaucher's disease type 3 (GD3) is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy or oculomotor apraxia is common in GD3. OBJECTIVE: To characterize the saccades in patients with Norrbottnian GD3 with respect to their neurological and cognitive status using a computer-based eye-tracking technique. METHODS: Horizontal and vertical reflexive saccades as well as antisaccades of nine GD3 patients [4M/5F; 41...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28687233/overview-of-immune-abnormalities-in-lysosomal-storage-disorders
#9
REVIEW
Donato Rigante, Clelia Cipolla, Umberto Basile, Francesca Gulli, Maria Cristina Savastano
The critical relevance of the lysosomal compartment for normal cellular function can be proved by numbering the clinical phenotypes that arise in lysosomal storage disorders (LSDs), a group of around 70 different monogenic autosomal or X-linked syndromes, caused by specific lysosomal enzyme deficiencies: all LSDs are characterized by progressive accumulation of heterogeneous biologic materials in the lysosomes of various parts of the body such as viscera, skeleton, skin, heart, and central nervous system. At least a fraction of LSDs has been associated with mixed abnormalities involving the immune system, while some patients with LSDs may result more prone to autoimmune phenomena...
July 4, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28686011/glucosylceramide-and-glucosylsphingosine-quantitation-by-liquid-chromatography-tandem-mass-spectrometry-to-enable-in-vivo-preclinical-studies-of-neuronopathic-gaucher-disease
#10
Rick L Hamler, Nastry Brignol, Sean W Clark, Sean Morrison, Leo B Dungan, Hui H Chang, Richie Khanna, Michelle Frascella, Kenneth J Valenzano, Elfrida R Benjamin, Robert E Boyd
Gaucher disease (GD) is caused by mutations in the GBA1 gene that encodes the lysosomal enzyme acid -glucosidase (GCase). Reduced GCase activity primarily leads to the accumulation of two substrates, glucosylceramide (GlcCer) and glucosylsphingosine (GlcSph). Current treatment options have not been shown to ameliorate the neurological pathology observed in the most severe forms of GD, clearly representing an unmet medical need. To better understand the relationship between GlcCer and GlcSph accumulation, and ultimately their connection with the progression of neurological pathology, we developed LC-MS/MS methods to quantify GlcCer and GlcSph in mouse brain tissue...
July 7, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28670500/peculiar-clinical-presentation-of-coxsackievirus-b4-infection-neonatal-restrictive-cardiomyopathy
#11
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal
Introduction  Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies, myofibrillar myopathies), or rare presentation of genetic syndromes (e.g., Coffin-Lowry syndrome) account for a minority of the cases, the majority remaining idiopathic. Case Study  We report the case of a 17-day-old male infant presenting cardiogenic shock following a restrictive dysfunction of the left ventricle...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28667566/connecting-gaucher-and-parkinson-disease-considerations-for-clinical-and-research-genetic-counseling-settings
#12
Lola Cook, Jeanine Schulze
There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease...
June 30, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28648811/a-case-of-improved-hearing-with-cochlear-implantation-in-gaucher-disease-type-1
#13
Shiori Endo, Kunihiro Mizuta, Takashi Yamatodani, Hiroshi Nakanishi, Kumiko Hosokawa, Kiyoshi Misawa, Seiji Hosokawa, Hiroyuki Mineta
Gaucher disease is a lysosomal storage disorder that is caused by congenital defective function of the enzyme glucocerebrosidase. Glucocerebroside that is not hydrolyzed by glucocerebrosidase mainly accumulates in the reticular tissue. We describe a Japanese boy with Gaucher disease type 1 who developed bilateral profound sensorineural hearing loss within approximately 4years. We performed cochlear implantation initially on his right ear and again on his left ear 5 months later. The cochlear implants were successfully utilized with a speech discrimination score of 95% on a Japanese sentence recognition test...
June 22, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28634598/previously-unrecognized-behavioral-phenotype-in-gaucher-disease-type-3
#14
Magy Abdelwahab, Michael Potegal, Elsa G Shapiro, Igor Nestrasil
OBJECTIVE: To provide a comprehensive description of abnormal behaviors in patients with Gaucher disease type 3 (GD3) and relate these behaviors to demographic, neurodevelopmental, and neurologic characteristics. METHODS: Thirty-four Egyptian patients with GD3 (mean age of 7.9 years) were enrolled in the study. They were selected based on parent report and/or physician observation of one or more abnormal behaviors documented in 2 settings and by 2 different individuals and/or by video recording...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28607008/the-dipole-potential-correlates-with-lipid-raft-markers-in-the-plasma-membrane-of-living-cells
#15
Tamás Kovács, Gyula Batta, Florina Zákány, János Szöllősi, Peter Nagy
The dipole potential generating an electric field much stronger than any other type of membrane potential influences a wide array of phenomena ranging from passive permeation to voltage-dependent conformational changes of membrane proteins. It is generated by the ordered orientation of lipid carbonyl and membrane-attached water dipole moments. Theoretical considerations and indirect experimental evidence obtained in model membranes suggest that the dipole potential is larger in liquid-ordered domains believed to correspond to lipid rafts in cell membranes...
June 12, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28598856/glucocerebrosidase-mutations-in-parkinson-disease
#16
Grace O'Regan, Ruth-Mary deSouza, Roberta Balestrino, A H Schapira
Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD. GBA mutations are now known to be the single largest risk factor for development of idiopathic PD. Clinically, on imaging and pharmacologically, GBA PD is almost identical to idiopathic PD. In patients with a known GBA mutation, it is possible to monitor for prodromal signs of PD...
June 7, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28596107/a-novel-function-for-glucocerebrosidase-as-a-regulator-of-sterylglucoside-metabolism
#17
REVIEW
Hisako Akiyama, Yoshio Hirabayashi
BACKGROUND: Sterols are major cell membrane lipids, and in many organisms they are modified with glucose to generate sterylglucosides. Glucosylation dramatically changes the functional properties of sterols. The formation of sterylglucosides from sterols in plants, fungi, and bacteria uses UDP-glucose as a glucose donor. By contrast, sterylglucoside biosynthesis in mammals is catalyzed by the transglucosylation activity of glucocerebrosidases, with glucosylceramide acting as the glucose donor...
June 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28593894/5th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-15th-2016
#18
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The fifth SEE meeting on rare diseases (RDs) was held in Macedonian Academy of Sciences and Arts (MASA) the November 11th, 2016. Several lectures dealt with mucopolysaccharidosis, glycogen storage diseases and the possibilities for their diagnosis and treatment. Enzyme replacement treatment (ERT), its availability, effects (or the lack of it) on the brain, and further prospects of eventual gene treatment were comprehensively exposed and discussed. Special accent was on Gaucher, Morquio IVA, Hunter and the audience was given new knowledge on the complexities of diagnosis and treatment...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28592657/induced-pluripotent-stem-cell-models-of-lysosomal-storage-disorders
#19
REVIEW
Daniel K Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky
Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses...
June 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28585220/inherited-arterial-calcification-syndromes-etiologies-and-treatment-concepts
#20
REVIEW
Yvonne Nitschke, Frank Rutsch
PURPOSE OF REVIEW: We give an update on the etiology and potential treatment options of rare inherited monogenic disorders associated with arterial calcification and calcific cardiac valve disease. RECENT FINDINGS: Genetic studies of rare inherited syndromes have identified key regulators of ectopic calcification. Based on the pathogenic principles causing the diseases, these can be classified into three groups: (1) disorders of an increased extracellular inorganic phosphate/inorganic pyrophosphate ratio (generalized arterial calcification of infancy, pseudoxanthoma elasticum, arterial calcification and distal joint calcification, progeria, idiopathic basal ganglia calcification, and hyperphosphatemic familial tumoral calcinosis; (2) interferonopathies (Singleton-Merten syndrome); and (3) others, including Keutel syndrome and Gaucher disease type IIIC...
June 5, 2017: Current Osteoporosis Reports
keyword
keyword
60850
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"