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Tay-Sachs Disease

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1. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. (PubMed)

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully (...) informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting. This is an update of a previously published review.To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.We searched

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2018 Cochrane

3. Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. (PubMed)

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease. Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in specific patient populations. Identifying and counselling couples at genetic risk of the conditions before pregnancy enables them to make fully (...) informed reproductive decisions, with some of these choices not being available if genetic counselling is only offered in an antenatal setting.To assess the effectiveness of systematic preconception genetic risk assessment to improve reproductive outcomes in women and their partners who are identified as carriers of thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease in healthcare settings when compared to usual care.We searched the Cochrane Cystic Fibrosis and Genetic Disorders

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2015 Cochrane

4. Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease (PubMed)

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD.We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast (...) lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a disease phenotype of lysosomal lipid accumulation. The Tay-Sachs disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this disease model, we observed reduction of lipid accumulation by employing enzyme replacement

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2018 Orphanet journal of rare diseases

5. Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. (PubMed)

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion.Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried out in 5 unrelated patients for copy number changes where heterozygous and/or homozygous disease causing mutation/s could

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2018 BMC Medical Genetics

6. N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease)

N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. N (...) -Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and Sandhoff Disease) The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. of clinical studies and talk to your health care provider before participating. Read our for details. ClinicalTrials.gov Identifier: NCT03759665 Recruitment Status : Not yet recruiting First Posted : November 30, 2018 Last Update Posted

2018 Clinical Trials

7. Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease (PubMed)

Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease Tay-Sachs disease is a rare metabolic disease caused by a deficiency of hexosaminidase A that leads to accumulation of GM2 gangliosides predominantly in neural tissue. Late-onset Tay-Sachs disease variant is associated with a higher level of residual HexA activity. Treatment options are limited, and there are a few described cases who have undergone haematopoietic stem

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2017 JIMD reports

8. Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population (PubMed)

Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population Juvenile Tay-Sachs disease is rarer than other forms of Tay-Sachs disease and is usually seen in children between the age of 2 and 10 years. Pyrimethamine as a pharmacological chaperone was used to increase β-hexosaminidase A activity in this patient.We describe a patient with Tay-Sachs disease from the Indian population, a juvenile case who presented

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2017 Child Neurology Open

9. Tay-Sachs Disease (TSD) testing in individuals of non?ashkenazi jewish origin

Tay-Sachs Disease (TSD) testing in individuals of non?ashkenazi jewish origin Tay-Sachs Disease (TSD) testing in individuals of non–ashkenazi jewish origin Tay-Sachs Disease (TSD) testing in individuals of non–ashkenazi jewish origin Record Status This is a bibliographic record of a published health technology assessment. No evaluation of the quality of this assessment has been made for the HTA database. Citation Tay-Sachs Disease (TSD) testing in individuals of non–ashkenazi jewish origin (...) . Lansdale: HAYES, Inc.. Genetic Testing Publication. 2011 Authors' conclusions Tay-Sachs disease (TSD) is an inherited fatal neurodegenerative disease, the prototype of a group of disorders called hexosaminidase A deficiency or GM2 gangliosidosis. Hexosaminidase A deficiencies are caused by excessive storage of a cell membrane glycolipid, GM2 ganglioside, within the cell lysosomes. Infants with TSD typically appear developmentally normal in the first months of life. Between 3 and 6 months of age

2011 Health Technology Assessment (HTA) Database.

10. A Natural History of Late Onset Tay-Sachs Disease

A Natural History of Late Onset Tay-Sachs Disease A Natural History of Late Onset Tay-Sachs Disease - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. A Natural History of Late Onset Tay-Sachs Disease (...) Details Study Description Go to Brief Summary: The purpose of this study is to learn more about the natural history of Late Onset GM2 Gangliosidosis (Tay-Sachs disease and Sandhoff Disease) to inform future clinical trials. Condition or disease GM2 Gangliosidosis Study Design Go to Layout table for study information Study Type : Observational [Patient Registry] Estimated Enrollment : 10 participants Observational Model: Cohort Time Perspective: Prospective Target Follow-Up Duration: 6 Months Official

2016 Clinical Trials

11. Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations (PubMed)

Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations 27033294 2017 01 05 2018 11 13 1757-790X 2016 2016 Mar 31 BMJ case reports BMJ Case Rep Cerebellar atrophy and muscle weakness: late-onset Tay-Sachs disease outside Jewish populations. 10.1136/bcr-2016-214634 bcr2016214634 Steiner Katharina Marie KM Universitatsklinikum Essen Klinik fur Neurologie, Essen, Nordrhein-Westfalen, Germany. Brenck Johannes J Universitatsklinikum Essen Klinik fur Neurologie (...) System Diseases etiology Tay-Sachs Disease diagnostic imaging genetics beta-Hexosaminidase alpha Chain genetics 2016 4 2 6 0 2016 4 2 6 0 2017 1 6 6 0 epublish 27033294 bcr-2016-214634 10.1136/bcr-2016-214634 PMC4840779 Genet Med. 2005 Feb;7(2):119-23 15714079 Science. 1989 Mar 17;243(4897):1471-4 2522679 J Biol Chem. 1988 Dec 15;263(35):18587-9 2848800

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2016 BMJ case reports

12. Tay-Sachs Disease

Tay-Sachs Disease Tay-Sachs Disease Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Tay-Sachs Disease Tay-Sachs Disease Aka: Tay-Sachs (...) of VI. Course Death occurs in first 3-4 years Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Tay-Sachs Disease." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Ontology: Tay-Sachs Disease (C0039373) Definition (MEDLINEPLUS) Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup

2018 FP Notebook

13. Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease (PubMed)

Novel Vector Design and Hexosaminidase Variant Enabling Self-Complementary Adeno-Associated Virus for the Treatment of Tay-Sachs Disease GM2 gangliosidosis is a family of three genetic neurodegenerative disorders caused by the accumulation of GM2 ganglioside (GM2) in neuronal tissue. Two of these are due to the deficiency of the heterodimeric (α-β), "A" isoenzyme of lysosomal β-hexosaminidase (HexA). Mutations in the α-subunit (encoded by HEXA) lead to Tay-Sachs disease (TSD), whereas mutations (...) in the β-subunit (encoded by HEXB) lead to Sandhoff disease (SD). The third form results from a deficiency of the GM2 activator protein (GM2AP), a substrate-specific cofactor for HexA. In their infantile, acute forms, these diseases rapidly progress with mental and psychomotor deterioration resulting in death by approximately 4 years of age. After gene transfer that overexpresses one of the deficient subunits, the amount of HexA heterodimer formed would empirically be limited by the availability

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2016 Human gene therapy

14. Tai Chi for chronic obstructive pulmonary disease (COPD). (PubMed)

Tai Chi for chronic obstructive pulmonary disease (COPD). Tai Chi, a systematic callisthenic exercise first developed in ancient China, involves a series of slow and rhythmic circular motions. It emphasises use of 'mind' or concentration to control breathing and circular body motions to facilitate flow of internal energy (i.e. 'qi') within the body. Normal flow of 'qi' is believed to be essential to sustain body homeostasis, ultimately leading to longevity. The effect of Tai Chi on balance (...) and muscle strength in the elderly population has been reported; however, the effect of Tai Chi on dyspnoea, exercise capacity, pulmonary function and psychosocial status among people with chronic obstructive pulmonary disease (COPD) remains unclear.• To explore the effectiveness of Tai Chi in reducing dyspnoea and improving exercise capacity in people with COPD.• To determine the influence of Tai Chi on physiological and psychosocial functions among people with COPD.We searched the Cochrane Airways

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2016 Cochrane

15. Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population (PubMed)

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population Carrier screening for Tay-Sachs disease is performed by sequence analysis of the HEXA gene and/or hexosaminidase A enzymatic activity testing. Enzymatic analysis (EA) has been suggested as the optimal carrier screening method, especially in non-Ashkenazi Jewish (non-AJ) individuals, but its utilization and efficacy have not been fully evaluated in the general population. This study assesses

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2016 Genetic testing and molecular biomarkers

16. Tai Chi exercise is more effective than brisk walking in reducing cardiovascular disease risk factors among adults with hypertension: A randomised controlled trial

Tai Chi exercise is more effective than brisk walking in reducing cardiovascular disease risk factors among adults with hypertension: A randomised controlled trial Physical inactivity is a major modifiable lifestyle risk factor associated with cardiovascular disease. Tai Chi is a safe and popular form of physical activity among older adults, yet direct comparisons are lacking between Tai Chi and brisk walking in their ability to reduce cardiovascular disease risk factors and improve (...) psychosocial well-being.246 adults (mean age = 64.4 ± 9.8 years, age range = 30-91 years, 45.5% men) with hypertension and at least two but not more than three modifiable cardiovascular disease risk factors (diabetes, dyslipidaemia, overweight, physical inactivity and smoking) were randomly assigned to either Tai Chi (n = 82), brisk walking (n = 82) or control (n = 82) groups. The Tai Chi and brisk walking groups engaged in moderate-intensity physical activity 150 min/week for 3 months; daily home-based

2018 EvidenceUpdates

17. Tai chi for primary prevention of cardiovascular disease. (PubMed)

Tai chi for primary prevention of cardiovascular disease. Stress and a sedentary lifestyle are major determinants of cardiovascular disease (CVD). As tai chi involves exercise and can help in stress reduction, it may be effective in the primary prevention of CVD.To determine the effectiveness of tai chi for the primary prevention of CVD.We searched the following electronic databases: the Cochrane Central Register of Controlled Trials (CENTRAL) (Issue 11, 2013); MEDLINE (Ovid) (1946 to November (...) and reference lists of reviews for further studies. We applied no language restrictions.Randomised controlled trials of tai chi lasting at least three months involving healthy adults or adults at high risk of CVD. The comparison group was no intervention or minimal intervention. The outcomes of interest were CVD clinical events and CVD risk factors. We excluded trials involving multifactorial lifestyle interventions or focusing on weight loss to avoid confounding.Two review authors independently selected

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2014 Cochrane

18. ATYPICAL PRESENTATION OF LATE-ONSET TAY-SACHS DISEASE (PubMed)

ATYPICAL PRESENTATION OF LATE-ONSET TAY-SACHS DISEASE Late-onset Tay-Sachs disease (LOTS) is a lysosomal storage disease caused by deficient Beta-hexosaminidase A activity.We describe a 53-year-old woman who presented with adult-onset leg weakness, and whose initial diagnosis was progressive muscular atrophy without identifiable etiology. Development of cerebellar ataxia in mid-life prompted reassessment.Beta-hexosaminidase A quantification assay demonstrated absence of the isozyme. Genetic

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2014 Muscle & nerve

19. Effects of a 12-week program of Tai Chi exercise on the kidney disease quality of life and physical functioning of patients with end-stage renal disease on hemodialysis. (PubMed)

Effects of a 12-week program of Tai Chi exercise on the kidney disease quality of life and physical functioning of patients with end-stage renal disease on hemodialysis. Previous studies have shown that exercise training in patients with end-stage renal disease could improve their physical functioning and quality of life. Nevertheless, few studies have evaluated the effects of Tai Chi exercise in patients on hemodialysis.To investigate the effects of a Tai Chi exercise intervention (...) on the quality of life and physical functioning in end-stage renal disease patients on hemodialysis.A pre-post experimental design.Patients, aged 20 years or older, on hemodialysis recruited from the hemodialysis unit at a medical center in central Taiwan were assigned, based on their own preference, to either a control group (n=25) or an intervention group (n=21).A weekly one-hour short-form Yang style Tai Chi session for a total of 12 weeks.Physical functioning and Kidney Disease Quality of Life (KDQOL

2017 Complementary Therapies In Medicine

20. The Effects of Tai Chi on Lung Function, Exercise Capacity and Health Related Quality of Life for Patients With Chronic Obstructive Pulmonary Disease: A Pilot Study. (PubMed)

The Effects of Tai Chi on Lung Function, Exercise Capacity and Health Related Quality of Life for Patients With Chronic Obstructive Pulmonary Disease: A Pilot Study. Although several studies have assessed the effect of Tai Chi in management of chronic obstructive pulmonary disease (COPD), these studies have a wide sample variation and convey inconclusive results. This study aims to determine if a 3-month Tai Chi program improves lung function, exercise capacity, and health related quality (...) of life (HRQoL) in people with COPD.A randomised controlled, single blind trial was undertaken. Patients were randomly allocated to either Tai Chi group (n=26) or control group (n=24). Participants in the Tai Chi group received a Tai Chi exercise program three times weekly for 3-months while participants in the control group were advised to maintain their routine activities. Outcome measures included lung function, 6-minute walk distance (6WMD) and COPD Assessment Test (CAT). The measurements took

2018 Heart, lung & circulation

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