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Treating Family Members

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41. Cladribine for treating relapsing–remitting multiple sclerosis

and conclusion 19 4 Implementation 21 5 Appraisal committee members and NICE project team 22 Appraisal committee members 22 NICE project team 22 Cladribine for treating relapsing–remitting multiple sclerosis (TA616) © NICE 2020. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 23This guidance replaces TA493. 1 1 Recommendations Recommendations 1.1 Cladribine is recommended as an option for treating highly active multiple sclerosis (...) in the paragraphs above. This means that, if a patient has relapsing–remitting multiple sclerosis and the doctor responsible for their care thinks that cladribine tablets are the right treatment, it should be available for use, in line with NICE's recommendations. Cladribine for treating relapsing–remitting multiple sclerosis (TA616) © NICE 2020. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 21 of 235 5 Appr Appraisal committee members

2020 National Institute for Health and Clinical Excellence - Technology Appraisals

42. Epsin Family Member 3 and Ribosome-Related Genes Are Associated with Late Metastasis in Estrogen Receptor-Positive Breast Cancer and Long-Term Survival in Non-Small Cell Lung Cancer Using a Genome-Wide Identification and Validation Strategy. Full Text available with Trip Pro

Epsin Family Member 3 and Ribosome-Related Genes Are Associated with Late Metastasis in Estrogen Receptor-Positive Breast Cancer and Long-Term Survival in Non-Small Cell Lung Cancer Using a Genome-Wide Identification and Validation Strategy. In breast cancer, gene signatures that predict the risk of metastasis after surgical tumor resection are mainly indicative of early events. The purpose of this study was to identify genes linked to metastatic recurrence more than three years after (...) surgery.Affymetrix HG U133A and Plus 2.0 array datasets with information on metastasis-free, disease-free or overall survival were accessed via public repositories. Time restricted Cox regression models were used to identify genes associated with metastasis during or after the first three years post-surgery (early- and late-type genes). A sequential validation study design, with two non-adjuvantly treated discovery cohorts (n = 409) and one validation cohort (n = 169) was applied and identified genes were

2016 PLoS ONE

43. The Study on Biological Function of Keratin 26, a Novel Member of Liaoning Cashmere Goat Keratin Gene Family. Full Text available with Trip Pro

The Study on Biological Function of Keratin 26, a Novel Member of Liaoning Cashmere Goat Keratin Gene Family. In our research, we explored the relationship between Keratin 26 and the regulation of fine hair, BMP signaling pathway, MT, FGF5, and IGF-I. The result of hybridization in situ revealed that Keratin 26 was specially expressed in cortex of skin hair follicles; the result of immunohistochemistry indicated that Keratin 26 was expressed in internal root sheath, external root sheath (...) that relative expressive quantity of Keratin 26 extremely remarkably declined (p<0.01); after K26 overexpression, we found that relative expressive quantity of Noggin extremely remarkably increased (p<0.01). We detected expressive quantity change of Keratin 26 and Keratin 26 using Real-time quantitative PCR and immunofluorescence technologies after fibroblasts were treated with MT, FGF5 or IGF-I; the results indicated that MT and FGF5 played a positive role in Keratin 26 and Keratin 26 expression, IGF-I

2016 PLoS ONE

44. Osteochondritis Dissecans Lesions in Family Members: Does a Positive Family History Impact Phenotypic Potency? Full Text available with Trip Pro

that may not accurately represent OCD inheritance patterns at large. Because there has been little investigation beyond these case reports, we aimed to describe a broader, more representative pattern of OCD inheritance applicable to all affected patients.(1) What proportion of patients treated for OCD of the knee have one or more immediate and/or extended family members with a history of OCD lesions? (2) Do patients with more phenotypically potent lesions, which we defined as patients with bilateral (...) at the time of diagnosis were included. At our institution, patients with intact lesions are treated with a trial of conservative therapy; conversely, patients with a break in the articular cartilage and/or loose fragments of bone/cartilage are treated surgically. There were no OCD-specific contraindications to surgery. This search identified 543 patients. After patient identification, a questionnaire was designed that asked for the number, age, and gender of all immediate family members and the history

2016 Clinical Orthopaedics and Related Research

45. Schizophrenia in a member of the family: Burden, expressed emotion and addressing the needs of the whole family Full Text available with Trip Pro

Schizophrenia in a member of the family: Burden, expressed emotion and addressing the needs of the whole family How often do we find ourselves concentrating so much on treating a patient with schizophrenia that we forget about the needs and difficulties of the family members who take care of that patient? This article highlights the global and specific difficulties that families and caregivers experience in having to care for chronically ill family members with schizophrenia with a backdrop (...) of continuing global deinstitutionalisation of such patients. Matters such as burden and expressed emotion are explored, family-specific interventions are discussed and areas of service delivery and resource inadequacies are identified.

2016 The South African journal of psychiatry : SAJP : the journal of the Society of Psychiatrists of South Africa

46. Heritable mutations associated with familial hypercholesterolaemia - Clinical Utility Card application

or children of a diagnosed patient may have phenotypic testing (e.g. by Dutch Lipid Clinic Network (DLCN) score, LDL-C measurement), and will also be treated based on symptoms and LDL-C levels. If no familial mutation is found through genetic testing (but there is a clinical diagnosis), family members of a FH patient can still undergo LDL-C testing. 10. Comparative safety Very few studies reported on the impact of genetic testing of affected individuals for FH. One qualitative study reported that genetic (...) An application for diagnostic genetic testing for heritable mutations predisposing to familial hypercholesterolaemia (FH) in clinically affected individuals, and for predictive genetic testing (or “cascade testing”) of the family members of those affected individuals who are shown to have such a mutation was received from the Royal College of Pathologists of Australasia (RCPA) by the Department of Health in February 2018. The evidence for assessment of this application was submitted in the form of a clinical

2019 Medical Services Advisory Committee

47. Ramucirumab for treating advanced gastric cancer or gastro-oesophageal junction adenocarcinoma previously treated with chemotherapy

of guidance 39 6 Appraisal Committee members, guideline representatives and NICE project team 40 Appraisal Committee members 40 NICE project team 42 7 Sources of evidence considered by the Committee 43 Ramucirumab for treating advanced gastric cancer or gastro–oesophageal junction adenocarcinoma previously treated with chemotherapy (TA378) © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 451 1 Recommendations (...) family members. The Committee heard from clinical experts that although there have been some advances in this disease area over the last 2 decades through the use of chemotherapies and a targeted agent (for people with HER2 amplification), there was still a need for new active agents, in particular, for those people whose disease had progressed after prior chemotherapy. The Committee concluded that the outlook for people with this disease was poor and that new active treatments offering improved

2016 National Institute for Health and Clinical Excellence - Technology Appraisals

48. Atezolizumab in combination for treating metastatic non-squamous non-small-cell lung cancer

therapy 20 Health-related quality of life 21 Cost-effectiveness results 22 End of life 23 Innovation 24 Other factors 24 Conclusion 25 4 Implementation 26 5 Appraisal committee members and NICE project team 27 Appraisal committee members 27 NICE project team 27 Atezolizumab in combination for treating metastatic non-squamous non-small-cell lung cancer (TA584) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 281 1 (...) Atezolizumab in combination for treating metastatic non-squamous non-small-cell lung cancer Atezolizumab in combination for treating Atezolizumab in combination for treating metastatic non-squamous non-small-cell metastatic non-squamous non-small-cell lung cancer lung cancer T echnology appraisal guidance Published: 5 June 2019 www.nice.org.uk/guidance/ta584 © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and-conditions#notice-of- rights).Y Y our

2019 National Institute for Health and Clinical Excellence - Technology Appraisals

49. Ocrelizumab for treating primary progressive multiple sclerosis

ocrelizumab 5 3 Committee discussion 6 The condition and current care pathway 6 Clinical effectiveness 7 Cost effectiveness 10 Adverse events 11 Waning of treatment efficacy 12 Stopping treatment 13 Utility values 14 Cost-effectiveness estimates 16 Innovation 17 Conclusion 18 4 Implementation 19 5 Appraisal committee members and NICE project team 20 Appraisal committee members 20 NICE project team 20 Ocrelizumab for treating primary progressive multiple sclerosis (TA585) © NICE 2019. All rights reserved (...) the condition reduces what they are able to contribute to society. The committee noted the submissions it had received from patient and carer organisations, and comments received at consultation. These detailed how many people with primary progressive multiple sclerosis eventually need support and care from family members or friends, and that ocrelizumab has provided hope of slowing disability progression for people diagnosed with the condition. The committee concluded that primary progressive multiple

2019 National Institute for Health and Clinical Excellence - Technology Appraisals

50. Inotersen for treating hereditary transthyretin amyloidosis

for their parents, and they may also be concerned about their children developing the condition in the future. 4.3 The condition places a significant burden on family members because they Inotersen for treating hereditary transthyretin amyloidosis (HST9) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 8 of 26provide physical and emotional care to patients while experiencing a considerable emotional burden of their own. Carers (...) The technology 7 4 Consideration of the evidence 8 Nature of the condition 8 Impact of the new technology 9 Cost to the NHS and value for money 13 Impact of the technology beyond direct health benefits and on the delivery of the specialised service 21 Other factors 22 Conclusion 22 5 Implementation 24 6 Evaluation committee members and NICE project team 25 Evaluation committee members 25 NICE project team 25 Inotersen for treating hereditary transthyretin amyloidosis (HST9) © NICE 2019. All rights reserved

2019 National Institute for Health and Clinical Excellence - Highly specialised technology

51. Brentuximab vedotin for treating CD30-positive cutaneous T-cell lymphoma

and their families and carers. The committee concluded that CTCL significantly reduces patients' quality of life. There is an unmet need for more effectiv There is an unmet need for more effective treatment options e treatment options 3.2 There is no NICE guidance on treating CTCL. The disease can be divided into a number of subtypes, only some of which express the tumour marker CD30. CD30 is expressed in both primary cutaneous anaplastic large cell lymphoma and lymphomatoid papulosis, which together form (...) Brentuximab vedotin for treating CD30-positive cutaneous T-cell lymphoma Brentuximab v Brentuximab vedotin for treating edotin for treating CD30-positiv CD30-positive cutaneous T e cutaneous T -cell -cell lymphoma lymphoma T echnology appraisal guidance Published: 24 April 2019 www.nice.org.uk/guidance/ta577 © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and-conditions#notice-of- rights).Y Y our responsibility our responsibility The recommendations

2019 National Institute for Health and Clinical Excellence - Technology Appraisals

52. Brigatinib for treating ALK-positive advanced non-small-cell lung cancer after crizotinib

Health-related quality of life 13 Resource use and costs 14 Cost-effectiveness results 15 End of life 16 Innovation 17 Conclusion 18 4 Implementation 19 5 Appraisal committee members and NICE project team 20 Appraisal committee members 20 NICE project team 20 Brigatinib for treating ALK-positive advanced non-small-cell lung cancer after crizotinib (TA571) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 211 1 (...) . Brigatinib for treating ALK-positive advanced non-small-cell lung cancer after crizotinib (TA571) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 19 of 215 5 Appr Appraisal committee members and NICE project team aisal committee members and NICE project team Appraisal committee members The 4 technology appraisal committees are standing advisory committees of NICE. This topic was considered by committee D. Committee

2019 National Institute for Health and Clinical Excellence - Technology Appraisals

53. Benralizumab for treating severe eosinophilic asthma

Information about benralizumab 7 3 Committee discussion 8 New treatment option 8 Clinical management and comparators 9 Clinical effectiveness 11 The company's economic model 15 Clinical inputs to the model 16 The company's updated base-case economic analysis 17 Innovation 20 4 Implementation 21 5 Appraisal committee members and NICE project team 22 Appraisal committee members 22 NICE project team 22 Update information 23 Benralizumab for treating severe eosinophilic asthma (TA565) © NICE 2019. All rights (...) for treating severe eosinophilic asthma (TA565) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Last updated September 2019 Page 21 of 235 5 Appr Appraisal committee members and NICE project team aisal committee members and NICE project team Appraisal committee members The 4 technology appraisal committees are standing advisory committees of NICE. This topic was considered by committee A. Committee members are asked to declare

2019 National Institute for Health and Clinical Excellence - Technology Appraisals

54. Cerliponase alfa for treating neuronal ceroid lipofuscinosis type 2

8 Nature of the condition 8 Impact of the new technology 10 Cost to the NHS and value for money 17 Impact of the technology beyond direct health benefits and on the delivery of the specialised service 26 Managed access agreement 27 Equalities 28 Conclusion 29 5 Implementation 30 6 Evaluation committee members and NICE project team 31 Evaluation committee members 31 NICE project team 31 Cerliponase alfa for treating neuronal ceroid lipofuscinosis type 2 (HST12) © NICE 2019. All rights reserved (...) for families. It concluded that CLN2 severely affects the lives of families, carers and siblings. Cerliponase alfa for treating neuronal ceroid lipofuscinosis type 2 (HST12) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 9 of 32Impact of the new technology Impact of the new technology Clinical trial e Clinical trial evidence vidence 4.4 The main clinical evidence submitted by the company came from 3 studies (190-201, 190

2019 National Institute for Health and Clinical Excellence - Highly specialised technology

55. Nusinersen for treating spinal muscular atrophy

treatments 7 The technology 8 Clinical trial evidence 8 The company's economic model 13 Results of the cost-effectiveness analysis 18 Other factors 19 End of life 23 Conclusion 24 4 Implementation 26 5 Appraisal committee members and NICE project team 27 Appraisal committee members 27 NICE project team 27 Nusinersen for treating spinal muscular atrophy (TA588) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 281 1 (...) erely affects the quality of life of patients, carers and their families 3.3 The clinical and patient experts explained that most people with SMA need constant support. This can include full-time care and attention, needing physical effort (such as lifting and carrying) and causing loss of sleep for patients and carers, stress, and fear at loss of abilities. All these factors have a major effect on family members' health-related quality of life. The committee heard from parents and carers

2019 National Institute for Health and Clinical Excellence - Technology Appraisals

56. Patisiran for treating hereditary transthyretin amyloidosis

and social life. The patient experts explained that members of the same family may have the condition. Patients have often been carers for their parents, and they may also be concerned about their children developing the condition in the future. 4.3 The condition places a significant burden on family members because they Patisiran for treating hereditary transthyretin amyloidosis (HST10) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice (...) The technology 8 4 Consideration of the evidence 9 Nature of the condition 9 Impact of the new technology 10 Cost to the NHS and value for money 15 Additional factors 27 Conclusion 28 5 Implementation 30 6 Evaluation committee members and NICE project team 31 Evaluation committee members 31 NICE project team 31 Patisiran for treating hereditary transthyretin amyloidosis (HST10) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page

2019 National Institute for Health and Clinical Excellence - Highly specialised technology

57. Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations

team 29 Evaluation committee members 29 NICE project team 29 Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations (HST11) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 301 1 Recommendations Recommendations 1.1 Voretigene neparvovec is recommended, within its marketing authorisation, as an option for treating RPE65-mediated inherited retinal dystrophies in people (...) treatments currently available in the UK for RPE65-mediated IRD. Current management focuses on strategies to improve the use of remaining vision. This includes using low-vision aids, social and educational support, and specialised genetic counselling for people with the condition and their families. Care is provided as part of a specialised multidisciplinary service. Voretigene neparvovec for treating inherited retinal dystrophies caused by RPE65 gene mutations (HST11) © NICE 2019. All rights reserved

2019 National Institute for Health and Clinical Excellence - Highly specialised technology

58. Darvadstrocel for treating complex perianal fistulas in Crohn's disease

for research 21 5 Appraisal committee members and NICE project team 22 Appraisal committee members 22 NICE project team 22 Darvadstrocel for treating complex perianal fistulas in Crohn’s disease (TA556) © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 231 1 Recommendations Recommendations 1.1 Darvadstrocel is not recommended, within its marketing authorisation, for previously treated complex perianal fistulas in adults (...) Darvadstrocel for treating complex perianal fistulas in Crohn's disease Darvadstrocel for treating comple Darvadstrocel for treating complex x perianal fistulas in Crohn perianal fistulas in Crohn’s disease ’s disease T echnology appraisal guidance Published: 9 January 2019 nice.org.uk/guidance/ta556 © NICE 2019. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and-conditions#notice-of- rights).Y Y our responsibility our responsibility The recommendations

2019 National Institute for Health and Clinical Excellence - Technology Appraisals

59. Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib. (Abstract)

Familial gastrointestinal stromal tumors, lentigines, and café-au-lait macules associated with germline c-kit mutation treated with imatinib. Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis (...) sequencing on DNA from peripheral blood leukocytes of all family members and from paraffin-embedded gastric biopsy specimens of affected siblings.Histopathology revealed positive expression of CD117 and CD34. Mutational analysis showed the germline c.1676T>C mutation in c-kit exon 11, (p.(Val559Ala)), in the peripheral blood of both siblings and a second exon 11 mutation, c.1669T>A (p.(Trp557Arg)) in the tumor biopsy of one of them. Initiation of imatinib treatment resulted in striking resolution

2017 International Journal of Dermatology

60. Beta interferons and glatiramer acetate for treating multiple sclerosis

and glatiramer acetate for treating multiple sclerosis (TA527) © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 3 of 29Appraisal committee members 28 NICE project team 28 Beta interferons and glatiramer acetate for treating multiple sclerosis (TA527) © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and- conditions#notice-of-rights). Page 4 of 29This guidance replaces TA32. 1 1 (...) Beta interferons and glatiramer acetate for treating multiple sclerosis Beta interferons and glatir Beta interferons and glatiramer acetate amer acetate for treating multiple sclerosis for treating multiple sclerosis T echnology appraisal guidance Published: 27 June 2018 nice.org.uk/guidance/ta527 © NICE 2018. All rights reserved. Subject to Notice of rights (https://www.nice.org.uk/terms-and-conditions#notice-of- rights).Y Y our responsibility our responsibility The recommendations

2018 National Institute for Health and Clinical Excellence - Technology Appraisals

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