Urinary copper excretion before and after oral intake of d-penicillamine in parents of patients with Wilson's disease

BackgroundUrinary copper excretion higher than 100 μg/24 h is useful for diagnosing Wilson's disease. d-Penicillamine challenge test may produce higher levels than 1400 μg/24 h, allowing for better diagnostic accuracy. This study investigated whether heterozygotes reach this value and compared copper serum levels, ceruloplasmin, and urinary copper excretion before and after administering d-penicillamine to the parents of Wilson's disease patients.MethodsFifty parents of adult patients were enrolled to obtain copper serum levels and ceruloplasmin along with 24-h urinary copper excretion before and after administering 1 g d-penicillamine.ResultsSerum ceruloplasmin and copper levels were significantly lower in fathers than in mothers (mean 21.8 × 27.8 mg%; 71.4 × 88.0 μg%; p ≤ 0.001). The mean of basal 24-h urinary copper excretion was higher in fathers (26.2 × 18.7 μg/24 h, p = 0.01), but did not differ between the genders after d-penicillamine (521.7 × 525.3, range 31.6–1085.1 μg/24 h, p = 0.8).ConclusionsThe mean values of serum copper, ceruloplasmin, and basal urinary copper excretion were different between males and females. The current diagnostic threshold of 24-h urinary copper excretion after d-penicillamine was not reached by heterozygotes. The increased urinary copper excretion after d-penicillamine challenge was much higher than fivefold the upper limit of normal urinary copper excretion in the majority of heterozygotes and should not be taken into account when diagnosing Wilson's disease.     

GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease

Metabolic Brain Disease - Pompe disease (PD) is a rare autosomal recessive multi-systemic lysosomal storage disorder, caused by mutations in the acid alpha-glucosidase (GAA) gene located on...     

Carbonylative Suzuki–Miyaura cross-coupling by immobilized Ni@Pd NPs supported on carbon nanotubes

In this study, a novel carbon nanotube (CNT) based nanocatalyst (Ni@Pd/CNT) was synthesized by modifying CNTs using Ni@Pd core–shell nanoparticles (NPs). Ni@Pd/CNT was used in catalytic carbonylative cross-coupling between 4-iodoanisole and phenylboronic acid. The Ni@Pd NPs possessed a magnetic nickel (Ni) core with a palladium (Pd) structural composite shell. Thus, the use of Ni had led to a reduced consumption of Pd without sacrificing the overall catalytic performance, simultaneously making it reusable as it could be conveniently recovered from the reaction mixture by using an external magnetic field. Immobilization of the Ni@Pd NPs on carbon nanotubes not only prevented their aggregation, but also significantly enhanced the accessibility of the catalytically active sites. The abovementioned approach based on carbon nanotubes and Ni@Pd NPs provided a useful platform for the fabrication of noble-metal-based nanocatalysts with easy accessibility and low cost, which may allow for an efficient green alternative for various catalytic reductions.

In this study, a novel carbon nanotube (CNT) based nanocatalyst (Ni@Pd/CNT) was synthesized by modifying CNTs using Ni@Pd core–shell nanoparticles (NPs).     

Three-year changes of cortical 18F-FDG in amnestic vs. non-amnestic sporadic early-onset Alzheimer’s disease

European Journal of Nuclear Medicine and Molecular Imaging - To examine and compare longitudinal changes of cortical glucose metabolism in amnestic and non-amnestic sporadic forms of early-onset...     

Synergistic Antiosteoporotic Effect of Lepidium Sativum and Alendronate in Glucocorticoid-Induced Osteoporosis in Wistar Rats

Alendronate belongs to a class of drugs called bisphosphonates. Bisphosphonates (BP) therapy is a vital option to reduce the risk of bone fracture in people who suffer from osteoporosis. Yet, bisphosphonate have displayed several side effects. Lepidium sativum (LS) seeds have been used in traditional folk medicine to heal fractured bones. However, there is a dearth of information on the impact of LS on bone metabolism especially in cases of glucocorticoids induced osteoporosis. Therefore, the aim of the study was to compare the biochemical bone markers and histological responses of LS alone (6 g of LS seeds in diet daily, n=8), ALD (alendronate, 70 mg/kg s.c.; n=8) alone, or LS and ALD combined in a rat model of glucocorticoid-induced osteoporosis (GIO) by injecting rats with methylprednisolone 3.5 mg/kg per day for 4 weeks. Serum calcium (Ca), albumin, phosphorus (P), bone-specific alkaline phosphatase (b-ALP), and tartrate-resistant acid phosphatase (TRAP) were measured 4 weeks after induction of GIO. GIO-group showed significantly increased serum TRAP and decreased b-ALP. GIO-group also showed significantly decreased serum P and unaltered Ca concentrations. Histological examination of GIO-group tibia bones indicated an osteoporotic change and a concomitant decrease in percentage of trabecular area or bone marrow area (PTB) in the proximal femoral epiphysis. Treatment with either LS and/or ALD ameliorated the above mentioned changes with variable degrees, with a net results of enhanced serum calcium, bone architecture, PTB, b-ALP and decreased TRAP in LS and LS+ALD groups compared to that of animals treated with alendronate alone. In conclusion, our findings present evidence supporting the potential benefits of LS in reducing the burden of GCs on bone health.     

Protective effects of sinapic acid against cyclophosphamide-induced testicular toxicity via inhibiting oxidative stress,caspase-3 and NF-kB activity in BALB/c mice

Cyclophosphamide (CP), as a chemotherapeutic agent, with the generation of oxidative stress leads to testicular toxicity. Sinapic acid (SA), as a phenylpropanoid compound has therapeutic activities. This research was planned to evaluate the improving effects of SA versus testicular injury induced by CP. Forty-eight mice were distributed into six groups: untreated, SA (5 and 10 mg/kg), CP (200 mg/kg) and CP + SA (5 and 10 mg/kg). SA was administrated for 7 successive days and CP was administered intraperitoneally on the 3rd day of study. On the 10th day of research, testicular toxicity was evaluated by sperm parameters test, tissue (oxidative stress parameters) and serum (testosterone) biochemical, histopathological, and immunohistochemical (Caspase-3 and NF-kB) assays. The findings illustrated that CP induces atypical appearance in tissue structure, disorder of sperm parameters dysfunction, decrease of testosterone, oxidative stress (an increase of MDA and decrease of GSH), apoptosis and inflammation in testicular tissue. SA administration protected testis from oxidative stress and improves testosterone level and structure. Moreover, immunohistochemical findings also showed that SA can inhibit Caspase-3 and NF-kB activity. Data have confirmed that SA could protect testis structure and its functions against CP-induced injury through antioxidant, anti-inflammatory and anti-apoptotic activities.