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| 2. |
- Wang, CH, et al.
(författare)
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Consensus statement on standard of care for congenital muscular dystrophies
- 2010
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Ingår i: Journal of child neurology. - : SAGE Publications. - 1708-8283 .- 0883-0738. ; 25:12, s. 1559-1581
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Tidskriftsartikel (refereegranskat)abstract
- Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.
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| 3. |
- Vazir, A, et al.
(författare)
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Resolution of central sleep apnoea following implantation of a left ventricular assist device.
- 2010
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Ingår i: International Journal of Cardiology. - : Elsevier BV. - 0167-5273 .- 1874-1754. ; 4:138, s. 317-319
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Tidskriftsartikel (refereegranskat)abstract
- Central sleep apnoea (CSA) occurs in up to 40% of patients with chronic heart failure (CHF). It is thought to be a consequence of CHF and is associated with an accelerated decline in cardiac function, and increased morbidity and mortality. The optimal treatment of CSA remains unclear. Resolution of CSA has been reported after cardiac transplantation. We report the first case of resolution of CSA 10 months following implantation of a permanent Jarviktrade mark 2000 left ventricular assist device (LVAD). The correction of CSA after implantation of the LVAD was associated with improvements in symptoms, exercise capacity, renal function, and increased arterial carbon dioxide levels at rest during wakefulness and also reduction in brain natriuretic peptide.
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| 4. |
- Yeo, G. S. H., et al.
(författare)
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The melanocortin pathway and energy homeostasis: From discovery to obesity therapy
- 2021
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Ingår i: Molecular Metabolism. - : Elsevier BV. - 2212-8778. ; 48
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Tidskriftsartikel (refereegranskat)abstract
- Background: Over the past 20 years, insights from human and mouse genetics have illuminated the central role of the brain leptin-melanocortin pathway in controlling mammalian food intake, with genetic disruption resulting in extreme obesity, and more subtle polymorphic variations influencing the population distribution of body weight. At the end of 2020, the U.S. Food and Drug Administration (FDA) approved setmelanotide, a melanocortin 4 receptor agonist, for use in individuals with severe obesity due to either pro-opiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency. Scope of review: Herein, we chart the melanocortin pathway & rsquo;s history, explore its pharmacology, genetics, and physiology, and describe how a neuropeptidergic circuit became an important druggable obesity target. Major conclusions: Unravelling the genetics of the subset of severe obesity has revealed the importance of the melanocortin pathway in appetitive control; coupling this with studying the molecular pharmacology of compounds that bind melanocortin receptors has brought a new obesity drug to the market. This process provides a drug discovery template for complex disorders, which for setmelanotide took 25 years to transform from a single gene into an approved drug.
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| 5. |
- Carpten, JD, et al.
(författare)
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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
- 2002
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 32:4, s. 676-680
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Tidskriftsartikel (refereegranskat)abstract
- We report here the identification of a gene associated with the hyperparathyroidism-jaw tumor (HPT-JT) syndrome. A single locus associated with HPT-JT (HRPT2) was previously mapped to chromosomal region 1q25-q32. We refined this region to a critical interval of 12 cM by genotyping in 26 affected kindreds. Using a positional candidate approach, we identified thirteen different heterozygous, germline, inactivating mutations in a single gene in fourteen families with HPT-JT. The proposed role of HRPT2 as a tumor suppressor was supported by mutation screening in 48 parathyroid adenomas with cystic features, which identified three somatic inactivating mutations, all located in exon 1. None of these mutations were detected in normal controls, and all were predicted to cause deficient or impaired protein function. HRPT2 is a ubiquitously expressed, evolutionarily conserved gene encoding a predicted protein of 531 amino acids, for which we propose the name parafibromin. Our findings suggest that HRPT2 is a tumor-suppressor gene, the inactivation of which is directly involved in predisposition to HPT-JT and in development of some sporadic parathyroid tumors.
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| 7. |
- Simonds, Erin F., et al.
(författare)
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Deep immune profiling reveals targetable mechanisms of immune evasion in immune checkpoint inhibitor-refractory glioblastoma
- 2021
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Ingår i: Journal for ImmunoTherapy of Cancer. - : BMJ. - 2051-1426. ; 9:6
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Tidskriftsartikel (refereegranskat)abstract
- Background Glioblastoma (GBM) is refractory to immune checkpoint inhibitor (ICI) therapy. We sought to determine to what extent this immune evasion is due to intrinsic properties of the tumor cells versus the specialized immune context of the brain, and if it can be reversed.Methods We used CyTOF mass cytometry to compare the tumor immune microenvironments (TIME) of human tumors that are generally ICI-refractory (GBM and sarcoma) or ICI-responsive (renal cell carcinoma), as well as mouse models of GBM that are ICI-responsive (GL261) or ICI-refractory (SB28). We further compared SB28 tumors grown intracerebrally versus subcutaneously to determine how tumor site affects TIME and responsiveness to dual CTLA-4/PD-1 blockade. Informed by these data, we explored rational immunotherapeutic combinations.Results ICI-sensitivity in human and mouse tumors was associated with increased T cells and dendritic cells (DCs), and fewer myeloid cells, in particular PD-L1+ tumor-associated macrophages. The SB28 mouse model of GBM responded to ICI when grown subcutaneously but not intracerebrally, providing a system to explore mechanisms underlying ICI resistance in GBM. The response to ICI in the subcutaneous SB28 model required CD4 T cells and NK cells, but not CD8 T cells. Recombinant FLT3L expanded DCs, improved antigen-specific T cell priming, and prolonged survival of mice with intracerebral SB28 tumors, but at the cost of increased Tregs. Targeting PD-L1 also prolonged survival, especially when combined with stereotactic radiation.Conclusions Our data suggest that a major obstacle for effective immunotherapy of GBM is poor antigen presentation in the brain, rather than intrinsic immunosuppressive properties of GBM tumor cells. Deep immune profiling identified DCs and PD-L1+ tumor-associated macrophages as promising targetable cell populations, which was confirmed using therapeutic interventions in vivo.
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| 8. |
- Janssen, Daisy J.A., et al.
(författare)
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COVID-19 : guidance on palliative care from a European Respiratory Society international task force
- 2020
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Ingår i: European Respiratory Journal. - : European Respiratory Society (ERS). - 0903-1936 .- 1399-3003. ; 56:3
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Tidskriftsartikel (refereegranskat)abstract
- Background: Many people are dying from coronavirus disease 2019 (COVID-19), but consensus guidance on palliative care in COVID-19 is lacking. This new life-threatening disease has put healthcare systems under pressure, with the increased need of palliative care provided to many patients by clinicians who have limited prior experience in this field. Therefore, we aimed to make consensus recommendations for palliative care for patients with COVID-19 using the Convergence of Opinion on Recommendations and Evidence (CORE) process. Methods: We invited 90 international experts to complete an online survey including stating their agreement, or not, with 14 potential recommendations. At least 70% agreement on directionality was needed to provide consensus recommendations. If consensus was not achieved on the first round, a second round was conducted. Results: 68 (75.6%) experts responded in the first round. Most participants were experts in palliative care, respiratory medicine or critical care medicine. In the first round, consensus was achieved on 13 recommendations based upon indirect evidence and clinical experience. In the second round, 58 (85.3%) out of 68 of the first-round experts responded, resulting in consensus for the 14th recommendation. Conclusion: This multi-national task force provides consensus recommendations for palliative care for patients with COVID-19 concerning: advance care planning; (pharmacological) palliative treatment of breathlessness; clinician–patient communication; remote clinician–family communication; palliative care involvement in patients with serious COVID-19; spiritual care; psychosocial care; and bereavement care. Future studies are needed to generate empirical evidence for these recommendations.
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| 9. |
- Schiza, S., et al.
(författare)
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Sleep laboratories reopening and COVID-19: a European perspective
- 2021
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Ingår i: European Respiratory Journal. - : European Respiratory Society (ERS). - 0903-1936 .- 1399-3003. ; 57:3
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Tidskriftsartikel (refereegranskat)abstract
- Clinical activities regarding sleep disordered breathing (SDB) have been sharply interrupted during the initial phase of the coronavirus disease 2019 (COVID-19) epidemic throughout Europe. In the past months, activities have gradually restarted, according to epidemiological phase of COVID-19 and national recommendations. The recent increase in cases throughout Europe demands a reconsideration of management strategies of SDB accordingly. Diagnosis of SDB and initiation of treatment pose some specific problems to be addressed to preserve the safety of patients and health personnel. This perspective document by a group of European sleep experts aims to summarise some different approaches followed in Europe and United States, which reflect national recommendations according to the epidemiological phase of the COVID-19 infection. Respiratory sleep medicine is likely to change in the near future, and use of telemedicine will grow to avoid unnecessary risks and continue to provide optimal care to patients. In addition, the document covers paediatric sleep studies and indications for titration of noninvasive ventilation, as well as precautions to be followed by patients who are already on positive airway pressure treatment. A single consensus document developed by the European Respiratory Society and national societies would be desirable to harmonise SDB management throughout Europe. Clinical activities regarding sleep disordered breathing (SDB) have been sharply interrupted during the initial phase of the coronavirus disease 2019 (COVID-19) epidemic throughout Europe. In the past months, activities have gradually restarted, according to epidemiological phase of COVID-19 and national recommendations. The recent increase in cases throughout Europe demands a reconsideration of management strategies of SDB accordingly. Diagnosis of SDB and initiation of treatment pose some specific problems to be addressed to preserve the safety of patients and health personnel. This perspective
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