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Spinal muscular atrophy a rare genetic condition. Some children are diagnosed with spinal muscular atrophy through genetic testing before symptoms appear if a sibling has been diagnosed with the condition. If left untreated, presymptomatic spinal muscular atrophy will become one of several types of spinal muscular atrophy of varying severity and symptoms. There are no routinely commissioned treatments for presymptomatic spinal muscular atrophy for use in the National Health Service. If ...

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The aim of maximal cytoreductive surgery for advanced ovarian cancer is to safely remove all identifiable disease, to improve survival, compared with surgery that leaves residual disease. It is a development and extension of standard surgery for ovarian cancer. Evidence on the safety and efficacy of maximal cytoreductive surgery for advanced ovarian cancer is adequate to support using this procedure

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Primary hyperoxaluria type 1 is a rare inherited disease that can significantly affect the quality of life of people who suffer from it, their families and caregivers. In primary hyperoxaluria type 1, the liver produces excess oxalate that combines with calcium in the tissues to form toxic crystals. These crystals can cause recurrent kidney stones, kidney damage, and in severe cases, kidney failure and multi-organ damage. Standard care includes supportive measures, dialysis, and a liver and ...

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NICE

Obstructive sleep apnoea is a condition in which the upper airway narrows or closes during sleep when the throat muscles intermittently relax. This causes reduced breathing (hypopnoea) or breathing to temporarily stop (apnoea). OSA can lead to major neurocognitive and cardiovascular sequelae. Management of OSA includes lifestyle changes (such as weight loss), continuous positive airway pressure, oral devices (mandibular advancement devices), neuromuscular electrical stimulation and upper ...

Essencial: Afegint valor a la pràctica clínica [Essencial: Adding value to the clinical practice]

Generalitat de Catalunya

In general, the concomitant treatment of opioids and gabapentinoids (gabapentin and pregabalin) in people with chronic non-cancer pain is considered a practice of little value. The reason is that the effectiveness of this combination is uncertain compared to monotherapy with either, and it increases the risk of respiratory depression or opioid overdose. Clinical practice guidelines and consensus documents recommend paying special attention to the combined prescription of opioids and ...