Ophthalmic Features in Prader-Willi Syndrome Patients with Type-2 Diabetes Mellitus

Purpose：To investigate and compare features of diabetic retinopathy（DR）in patients with Prader-Willi Syndrome（PWS）and those without PWS.Methods：Overall, 33 PWS patients with type-2 diabetes mellitus（T2DM）secondary to PWS（65 eyes） and 55 age-matched patients with T2DM（109 eyes）without congenital heredity diseases were reviewed. Medical records of 65 eyes with PWS（PWS group：mean age 24.7±5.9 years）and 109 eyes without PWS （control group：mean age 22.9±6.2 years）were acquired and compared from January 2000 to November 2018. Best-corrected visual acuity（BCVA）was determined and DR scores were assigned.Results：BCVA was significantly low in PWS group compared with the controls（P＜0.001）. Pseudophakia was frequently observed in patients in the PWS group（P＝0.024）. No significant differences were found with respect to cataract（P＝0.065）and DR score（P＝0.77）between patients in the PWS and control groups. Investigations into the possible causes of the low BCVA in the PWS group found no significant difference regarding strabismus（P＝0.065）. However, significant differences were found between both groups with respect to amblyopia（P＜0.01）. Visual acuity examinations were incomplete in some patients with PWS because of their inability to concentrate（P＜0.01）.Conclusions：There was no correlation between DR progression and PWS. Lower BCVA in PWS patients was likely owing to amblyopia and incomplete visual acuity examination owing to inability of patients with PWS to concentrate

Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6 years of enzyme replacement therapy: Implications for early diagnosis and therapy

Mucopolysaccharidosis (MPS) is an inherited metabolic disease caused by deficiency of the enzymes needed for glycosaminoglycan (GAG) degradation. MPS type I is caused by the deficiency of the lysosomal enzyme alpha-l-iduronidase and is classified into Hurler syndrome, Scheie syndrome, and Hurler–Scheie syndrome based on disease severity and onset. Cardiac complications such as left ventricular hypertrophy, cardiac valve disease, and coronary artery disease are often observed in MPS type I. Enzyme replacement therapy (ERT) has been available for MPS type I, but the efficacy of this treatment for cardiac valve disease is unknown. We report on a 56-year-old female patient with attenuated MPS I (Scheie syndrome) who developed aortic and mitral stenosis and coronary artery narrowing. The cardiac valve disease progressed despite ERT and she finally underwent double valve replacement and coronary artery bypass grafting. The pathology of the cardiac valves revealed GAG accumulation and lysosomal enlargement in both the mitral and aortic valves. Zebra body formation was also confirmed using electron microscopy. Our results suggest that ERT had limited efficacy in previously established cardiac valve disease. Early diagnosis and initiation of ERT is crucial to avoid further cardiac complications in MPS type I

Predictive factors associated with bleeding in atrial fibrillation patients treated with anti-coagulant drugs using a large claims database.

ObjectiveTo identify risk factors for bleeding in atrial fibrillation (AF) patients treated with anti-coagulants such as warfarin, apixaban, edoxaban, dabigatran, rivaroxaban using a large claims database.MethodsA claims database for 8926 AF patients from 2004 to 2016 was obtained from JMDC. Inc. We performed a retrospective cohort study in 2796 Japanese AF patients with 4-month screening and 12-month observation periods. Polypharmacy was defined as prescription of over six drugs. Logistic regression analysis was conducted after stratification based on the presence and absence of cerebrovascular diseases to detect the predictive factors for bleeding.ResultsPolypharmacy was observed in 815 of 2796 (29.1%) patients. A total of 371 AF patients (13.3%) experienced bleeding in the 12-month observation period. Bleeding risk assessment using multiple logistic regression analysis revealed that the odds ratio for the number of co-administered drugs in the elderly (age for ≥60, ≤74) was not significant in those without and with cerebrovascular diseases (1.05 [0.99-1.12], N.S. and 1.10 [0.96-1.27], N.S.). In contrast, in the young (age for ConclusionWe determined the bleeding risk in the clinical setting using a large claims database. Physicians and pharmacists need to monitor patients for the initial bleeding signs, particularly in those with these predictive risk factors

Autistic, Aberrant, and Food-Related Behaviors in Adolescents and Young Adults with Prader-Willi Syndrome: The Effects of Age and Genotype

The effects of age and genotype were examined, with regard to the severity of aberrant, autistic, and food-related behaviors in Prader-Willi syndrome (PWS), with an emphasis on the contrast between adolescents and young adults. The Aberrant Behavior Checklist Japanese version (ABC-J), the Food Related Problem Questionnaire (FRPQ), and the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS) were administered to 65 PWS patients, including 20 adolescents (ages 12 to 17) and 45 young adults (ages 18 to 29). Significant differences (Mann–Whitney U tests) were found in ABC-J (p=0.004) and PARS (p=0.021), with lower scores in adolescents than in young adults. While DEL subgroups showed no significant differences between the two age groups in ABC-J (p=0.063) and PARS (p=0.134), mUPD subgroups showed a statistically significant difference in terms of ABC-J (p=0.007). No significant differences were found between adolescents and young adults, in terms of FRPQ (p=0.163). These results suggest that aberrant and autistic behaviors follow a marked worsening trend from around the age of 18. On the other hand, food-related behaviors give no sign of change at this transitory stage. Young adults with mUPD were found to be significantly more severe than adolescents with mUPD, in terms of aberrant behaviors