Genetics of diabetes insipidus

genetics of diabetes insipidus

The innovation methodologies topics particularly include but are not limited to : · Development of a disease progression model from a natural history cohort or other observational studies.

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The call aims genetics of diabetes insipidus encourage collaborations among groups of experts consisting of different stakeholders including methodological experts, clinicians, patients and industry when relevant who will jointly develop innovative ready-to-use methods to enhance RD clinical trial methodologies.

Jarod Wong from the University of Glasgow will review the endocrine and bone morbidity in DMD with focus on the updated international care recommendations and discuss areas for future research which includes management of endocrine and bone in adults with DMD.

He will be joined by Justus Kuijer who will share his experience of endocrine and bone morbidity. Duchenne muscular dystrophy DMD is a rare X-linked inherited neuromuscular condition affecting 1 in boys.

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Most are diagnosed in early childhood, and it is characterised by progressive muscle wasting. To date, there is no curative therapy, and untreated boys usually loose ambulation between years.

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Oral glucocorticoid GC has been genetics of diabetes insipidus to slow the muscle wasting prolonging age at loss of ambulation by about years. Treatment is also beneficial for respiratory, cardiac status and upper limb function, and is continued indefinitely. Therefore, current standards of care of management of DMD is a model of chronic GC excess, leading to significant endocrine and bone morbidity with impact on the quality of life of these young people.

Recent international recommendations of standards of care in DMD have consolidated endocrine monitoring and management in these boys.

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Delayed puberty due to central hypogonadism is extremely common and contributes further insult to the skeleton. Secondary adrenal insufficiency from the use of long-term GC is an issue that may genetics of diabetes insipidus not be addressed in detailed and has been a cause for concern at the start of the COVID19 pandemic.

Emerging data also suggests that endocrine and bone morbidity may differ depending on GC diabetic polyneuropathy treatment. Boys on daily GC are shorter, more overweight and have higher risk of fractures including vertebral fractures.

However, boys on intermittent GC may have poorer skeletal muscle outcome.

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Published data also suggests that short stature and bone morbidity may be commoner in those treated with Deflazacort whereas weight gain appears commoner in those treated with Prednisolone. Webinar összegzés.

type 1 diabetes literature review

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