Articles: disease.
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Bardet-Biedl Syndrome (BBS) is an autosomal recessive systemic disorder characterized by retinitis pigmentosa, polydactyly, obesity, intellectual disability, renal impairments, and hypogonadism. The purpose of this study was to determine the ocular characteristics of a boy with BBS caused by a novel homozygous variant in the ARL6 (alternative named BBS3) gene who had been originally diagnosed with retinitis punctata albescens. ⋯ In children with night blindness and progressive visual dysfunction, it is important for ophthalmologists to consult clinical geneticists and pediatricians to rule out the possibility of systemic diseases such as BBS.
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Case Reports
Herpes simplex virus type 2 encephalitis in a child with chronic progressive white matter lesions: A case report.
This case is a rare manifestation of central nervous system infection of Herpes simplex virus (HSV)-2. Due to few studies in China, it provides a pathological basis for further diagnosis and treatment of HSV-2. ⋯ The diagnosis and differential diagnosis of the disease is very difficult. Its differential diagnosis include cerebrovascular disease, bacteria or fungi and other viral infection of the brain.
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Due to the high prevalence of Hepatitis C virus (HCV) infection among individuals born between 1945 and 1965, in 2012 the Centers for Disease Control and Prevention began recommending HCV screening for this birth cohort. As adherence to HCV treatment is essential for sustained virologic response, identifying factors influencing medication adherence is important. The validated Adherence to Refills and Medications Scale (ARMS) is used to study recent medication adherence in those with chronic disease. ⋯ In the final multiple variable model, ARMS scores were 2.3 points higher in those with mild depression (95% CI: 0.63, 4.04), 2.0 in those with at least 4 ACEs (95% CI: 0.55, 3.49), and 1.8 in those with tattoos (95% CI: 0.30, 3.28). ACEs and food insecurity were identified as confounding variables in those with moderate to severe depression. This study found medication adherence was related to depression, ACEs, tattoos, and food insecurity among patients in this birth cohort at higher risk for HCV.
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Previous studies suggested that increased serum uric acid (SUA) level is an independent risk factor for albuminuria in Type 2 diabetes (T2D) patients. However, the association between SUA and onset of Type 2 DKD (T2DKD) remained to be clarified. This was a cross-sectional clinical study in which 1210 Chinese T2D patients were enrolled. ⋯ However, SUA was not significantly associated with the presence of micro-albuminuria. Although the SUAwas not independently risk factor for micro-albuminuria, it was closely correlated with the development of macro-albuminuria in Chinese T2DKD patients. Elevated SUA may be useful for predicting the occurrence of macro-albuminuria but not onset of micro-albuminuria at the early stage of T2DKD.
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Crohn's disease is a chronic inflammatory condition that can involve any area in the gastrointestinal tract often involving the distal ileum where vitamin B12 is specifically absorbed. The aim of this study was to ascertain serum vitamin B12 and folate levels in order to investigate the correlation among these vitamin levels and disease activation, localization, duration and age at the onset of the disease. Study population included 103 patients with Crohn's disease and a healthy control group of 114 individuals. ⋯ The intragroup analysis of the patient group revealed that low vitamin B12 levels were significantly lower in the moderate group classified according to the Crohn's Disease Activity Index (P < .001), along with those in the L1 group with terminal/distal ileal involvement (P < .001). Vitamin B12 and folate deficiencies are quite prevalent in patients with Crohn's disease while this condition can lead to various complications and they prove to be important risk factors associated especially with thrombosis and its complications. Patients must be regularly followed-up for vitamin B12 and folate levels to supplement them where needed.