Internal medicine
-
It is well known that people with Down's syndrome (DS) frequently complicate with congenital heart diseases (CHDs). Patients with heart diseases often have sleep-disordered breathing as a co-morbidity (SDB) which worsens the heart diseases. However, the relationship between SDB and CHDs in DS people has not yet been fully elucidated. The aim of this study was to establish the association between SDB and CHDs in DS people using data from a large nationwide questionnaire survey in Japan. ⋯ SDB prevailed among DS people with severe CHDs, such as tetralogy of Fallot. Careful attention to the signs of SDB in such patients may lead to earlier clinical intervention removing the vicious cycle between SDB and CHDs.
-
This study was conducted to determine whether a policy of not attempting to resuscitate patients who are 80 years of age and older with cardiopulmonary arrest on arrival is justifiable. ⋯ Even patients 80 years of age and older can be resuscitated to spontaneous circulation. We do not endorse a policy that recommends not performing cardiopulmonary resuscitation based solely on the age of the patient.
-
This study was designed to determine the SYNTAX score under different fasting plasma glucose (FPG) states in Chinese patients undergoing coronary angiography, particularly subjects with impaired FPG. ⋯ Chinese subjects with impaired FPG have a significantly elevated risk of having an intermediate or high SYNTAX score, indicating a risk of severe coronary artery lesions. Subjects with known or previously unknown T2DM may have severe coronary artery lesions. These findings suggest the importance of achieving better glycemic control in order to prevent coronary atherosclerosis and improve the cardiovascular prognosis.
-
Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by a mutation in the uromodulin (UMOD) gene, leading to end-stage renal disease. We herein report the case of a family with UAKD caused by a novel mutation (C135G) in the UMOD gene. ⋯ Her father, grandfather and paternal aunt had received maintenance hemodialysis therapy since their 40's. This case underscores the importance of performing genetic testing in young patients even in cases involving only moderate abnormalities in the kidney function.
-
Case Reports
A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions.
A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. ⋯ A GLA mutation analysis showed the p. E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease. Enzyme replacement therapy did not result in a marked improvement, however, the disease progression stopped.