Medicine
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Vacuolated podocytes are the most common form of renal damage in Fabry disease, but other types of renal damage have been reported, such as membranous nephropathy (MN) or IgM nephropathy. Enzyme replacement therapy (ERT) is effective at preventing renal damage, but the nephropathies require appropriate treatment to prevent renal damage. ⋯ This report is a reminder of the co-existence of MN without vacuolated podocytes in Fabry disease during ERT with agalsidase-β and carbamazepine.Physicians should be aware of this form of renal damage in Fabry disease, even during treatment.
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Case Reports
Congenital aphallia associated with congenital urethrorectal fistula: A rare case report.
Aphallia is an extremely rare congenital malformation of unknown cause, with few reports in the literature. It is usually associated with other urogenital and gastrointestinal anomalies and is believed to be a result of either the absence of a genital tubercle or chromosome polymorphism. Herein, we describe an extremely rare case of congenital aphallia with congenital urethrorectal fistula and describe our treatment for this patient. ⋯ Compatible treatment should be adopted to address urinary tract drainage and infection. Management requires a stepwise approach to address needs as they arise. Neophalloplasty should be performed by an experienced team in early adolescence.
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common form of familial cerebral small vessel disease in adults, and is caused by NOTCH3 mutations. However, individual symptom types, onset, and disease severity span a wide range. ⋯ Accurate early diagnosis and appropriate treatment are crucial to improve the prognosis of patients with CADASIL.
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Observational Study
Problematic Internet use and daily difficulties among adolescents with school refusal behaviors: An observational cross-sectional analytical study.
Problematic Internet use (PIU) is common and likely to coexist with mental health problems among adolescents with school refusal behavior. To date, no study has revealed to what extent PIU relates to the daily burden compared with other mental health problems. This study has examined the association between daily difficulties and PIU among adolescents with school refusal behaviors. ⋯ The QCD scores among patients with PIU were significantly lower than those in patients without PIU. Linear regression analysis revealed relationships between PIU and lower QCD scores throughout the day (except at night) and the total score of the day, after controlling for confounders such as depressive and anxiety symptoms. In conclusion, among adolescents with school refusal behaviors, PIU may affect their parent-assessed daily difficulties particularly experienced throughout the day.
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U. S. Veterans Affairs (VA) patients' multi-system use can create challenges for VA clinicians who are responsible for coordinating Veterans' use of non-VA care, including VA-purchased care ("Community Care") and Medicare. ⋯ However, drive time eligibility (MISSION Act criteria) was associated with significantly lower odds of an outpatient specialty care visit taking place in VA (odds ratio = 0.69, 95% confidence interval 0.67, 0.71). Neither drive distance nor drive time were associated with reliance for outpatient primary care or mental health care. VA patients who are at high risk for hospitalization may continue to rely on VA for outpatient primary care and mental health care despite access to outside services, but may increase use of outpatient specialty care in the community in the MISSION era, increasing demand for multi-system care coordination.