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Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by deficiency of sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. This multicenter, cross-sectional descriptive study aimed to document clinical characteristics of CTX patients of different ages, clinical presentations of early-diagnosed patients, and responses to short-term chenodeoxycholic acid (CDCA) treatment. Seven of 11 CTX patients were diagnosed in childhood. Three patients (27%) had neonatal cholestasis, seven (63%) patients had a history of frequent watery defecation started in infantile period, and eight (72.7%) patients had juvenile cataract. Four patients in the adult age group had pyramidal signs and parkinsonism symptoms. The mean Mignarri score at diagnosis was significantly lower in the pediatric patients (267.8 ± 51.4) than in the adult patients (450.0 ± 64.0, p = 0.001). No significant difference was determined between pediatric patients and adult patients regarding plasma cholestanol concentration at diagnosis (p = 0.482). The frequency of defecation decreased with treatment in six children, who had diarrhea at admission. Compared to pretreatment values, patients' body weight and standardized body mass index significantly increased at the 12th month of treatment. In conclusion, Mignarri scores are lower in the pediatric patients than in adult patients since the most determinative signs of the CTX disease are not apparent yet in the childhood. The disease is frequently overlooked in routine practice as the disease presents itself with different clinical combinations both in adults and in children. CTX is potentially a treatable disease; thereby, enhanced awareness is critically important for early diagnosis particularly in children. [ABSTRACT FROM AUTHOR]

Amyloid β42 (Aβ42) and proinflammatory cytokines such as interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-α) have been suggested to contribute to the pathogenesis of Alzheimer's disease (AD) and vascular dementia (VaD). Our aim was to examine whether the changes in these parameters would be able to discriminate the patients with AD from those with VaD and from healthy individuals. We have analyzed the levels of Aβ42, IL-6 and TNF-α in the serum of newly diagnosed 28 AD patients, 16 VaD patients and 26 healthy non-demented controls. We also investigated whether there is an association between Aβ42, IL-6 and TNF-α levels and mini-mental state examination (MMSE) scores and body mass indexes (BMI) of patients. Our data showed a significant decrease in serum Aβ-42 levels in AD patients compared to VaD patients and controls. Levels of IL-6 and TNF-α were not different between AD patients, VaD patients and controls. We observed a correlation between Aβ-42 levels and MMSE scores and BMI levels in both AD and VaD patients. However, Aβ-42 levels were not correlated with IL-6 and TNF-α levels. Significantly lower levels of Aβ42 found in the serum of AD patients than that of VaD patients and controls suggests that it can be a specific biochemical marker for AD. [ABSTRACT FROM AUTHOR]

The objective of this study is to investigate the efficacy of low-level laser therapy (LLLT) in patients with carpal tunnel syndrome (CTS). Sixty patients with CTS were included in this placebo-controlled and double-blind study and randomly assigned to three treatment groups: active laser with a dosage of 1.2 J/per painful point, active laser with a dosage of 0.6 J/per painful point, and placebo groups. A total of 5 points across the median nerve trace were irradiated with Gal-Al-As diode laser. All groups were treated 5 times per week for 3 weeks. Clinical assessments included pain intensity, grip strength, symptom severity score (SSS), functional status score (FSS), nerve conduction studies, and cross-sectional area (CSA) of the median nerve as measured by ultrasonography. Compared to baseline, post-treatment VAS scores (group 1, P < 0.001; group 2, P < 0.001; group 3, P < 0.01), grip strength ( P < 0.05), SSS scores (group 1, P < 0.001; group 2, P < 0.001; group 3, P < 0.01), and FSS scores ( P < 0.05) improved significantly in all groups. Only sensorial nerve velocity measurements on the palmar region showed a significant improvement in both active laser groups ( P < 0.01). There was no significant difference in any of the outcome measures among the groups. With the chosen laser type and dose regimen, the results suggested that LLLT was no more effective than placebo in CTS. [ABSTRACT FROM AUTHOR]