Deutsche medizinische Wochenschrift
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Dtsch. Med. Wochenschr. · Jun 2021
[Alpha-1 antitrypsin deficiency: cause and cofactor for liver disease].
Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder arising due to mutation in alpha1-antitrypsin (AAT). AAT mutations interfere with the AAT production/secretion, cause decreased AAT serum levels and accumulation of AAT in the liver. The excess AAT leads to a proteotoxic liver disease, while the lack of AAT in systemic circulation predisposes to lung injury. ⋯ In individuals with non-alcoholic fatty liver disease or alcohol misuse it promotes the development of liver cirrhosis. While no drug treatment exists for AATD-related liver disease, there are several compounds in clinical phase II/III-trials. These either silence the AAT production via siRNA or facilitate the secretion of AAT from the liver due to an improved folding.
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Dtsch. Med. Wochenschr. · Jun 2021
[Cardiac diagnostics after ischemic stroke or transitory ischemic attack].
Stroke is the most common cause of permanent disability and one of the most common causes of death. Cardio-embolic strokes are associated with a poor prognosis and a high risk of recurrence compared to other stroke etiologies. ⋯ A structured evaluation after ischemic stroke includes taking the medical history, a physical examination, 12-lead ECG recording, rhythm monitoring for 72 h, transthoracic echocardiography and transesophageal echocardiography, if an atrial embolic source of stroke is suspected. Extended cardiac work-up (e. g., MRI/CT, prolonged rhythm monitoring) should be performed in selected patients based on diagnostic findings.
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Deep vein thrombosis usually manifests as leg or pelvic vein thrombosis (DVT). The causes are either acquired or inherited and can also occur in combination. Early diagnosis and treatment of DVT can reduce the risk of pulmonary embolism and postthrombotic syndrome. ⋯ After diagnosis, risk factors that led to the occurrence of thrombosis can be identified in many cases. In more than half of the cases, genetic causes play a role. If the cause is not clear, tumor screening should be performed, since up to 20 % of thromboses are due to tumor disease.
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Treating sleep disorders is a challenge in individuals with dementia. A precondition for treatment success is thorough diagnostics of sleep disorders. ⋯ Drugs for the treatment of a sleep disorder should only be prescribed with a clear indication and prolongation of prescription should regularly be checked. The active search for and the treatment of sleep disorders should always be performed in individuals with dementia.