INTRODUCTION: The diagnosis of Wilson disease (WD) is plagued by biochemical and clinical uncertainties. Thus, calculated parameters have been proposed. This study aimed to: (a) compare the diagnostic values of non-caeruloplasmin copper (NCC), NCC percentage (NCC%), copper-caeruloplasmin ratio (CCR) and adjusted copper in WD; and (b) derive and evaluate a discriminant function in diagnosing WD. METHODS: A total of 213 subjects across all ages who were investigated for WD were recruited. WD was confirmed in 55 patients, and the rest were WD free. Based on serum copper and caeruloplasmin values, NCC, NCC%, CCR and adjusted copper were calculated for each subject. A function was derived using discriminant analysis, and the cut-off value was determined through receiver operating characteristic analysis. Classification accuracy was found by cross-tabulation. RESULTS: Caeruloplasmin, total copper, NCC, NCC%, CCR, adjusted copper and discriminant function were significantly lower in WD compared to non-WD. Discriminant function showed the best diagnostic specificity (99.4%), sensitivity (98.2%) and classification accuracy (99.1%). Caeruloplasmin levels <0.14 g/L showed higher accuracy than the recommended 0.20 g/L cut-off value (97.7% vs. 87.8%). Similarly, molar NCC below the European cut-off of 1.6 umol/L showed higher accuracy than the American cut-off of 3.9 umol/L (80.3% vs. 59.6%) (P < 0.001). NCC%, mass NCC, CCR and adjusted copper showed poorer performances. CONCLUSION Discriminant function differentiates WD from non-WD with excellent specificity, sensitivity and accuracy. Performance of serum caeruloplasmin <0.14 g/L was better than that of <0.20 g/L. NCC, NCC%, CCR and adjusted copper are not helpful in diagnosing WD.
Humans ; Hepatolenticular Degeneration/diagnosis* ; Copper/analysis* ; Ceruloplasmin/metabolism* ; Repressor Proteins

Objective: To investigate the relationship between the levels of selenium, iron and copper in cord blood of neonates and the risk of congenital heart disease (CHD), and analyze their interaction effects. Methods: The subjects were obtained from the birth cohort in Lanzhou area established from 2010 to 2012. A baseline survey was conducted in the first trimester, and the follow-up was conducted in the second trimester, third trimester and 42 days after delivery. The umbilical vein blood was collected from newborns at delivery, and information on their birth outcomes was extracted from medical records. A nested case-control study was used to select 97 neonates with CHD newly diagnosed by echocardiography as the case group, and 194 neonates were selected as the control group by 1∶2 matching according to their mother's age, block and CHD onset time. Inductively coupled ion mass spectrometry was used to detect the concentrations of selenium, iron and copper in neonatal cord blood. The element exposure was categorized into three groups, the low, medium and high concentrations, according to the quartiles Q₁ and Q₃ of selenium, iron and copper concentrations in the control group. The association between cord blood selenium, iron and copper concentrations and CHD was analyzed by conditional logistic regression model using medium concentration as the reference standard. The association of their interactions with CHD was analyzed by a phase multiplication model. Results: The M (Q₁, Q₃) concentration of neonatal cord blood copper was 746.12 (467.48, 759.74) μg/L in the case group and 535.69 (425.21, 587.79) μg/L in the control group, with a statistically significant difference between the two groups (P<0.05). After adjustment for confounders, logistic regression models showed that the risk of CHD development was increased in neonates with either high copper in cord blood (OR=4.062, 95%CI: 2.013-8.199) or high copper combined with high iron (OR=3.226, 95%CI: 1.343-7.750). No correlation was observed between selenium and iron concentrations and the development of CHD in neonates. There was a multiplicative interaction between copper and iron in cord blood on the risk of developing CHD (OR=1.303, 95%CI: 1.056-1.608). Conclusion: There is a multiplicative interaction between iron and copper elements. The high copper and the high copper combined with high iron in umbilical cord blood are risk factors for neonatal CHD.
Humans ; Infant, Newborn ; Copper/analysis* ; Selenium ; Iron/analysis* ; Fetal Blood/chemistry* ; Case-Control Studies ; Heart Defects, Congenital

OBJECTIVE: To study the association of serum levels of trace elements with core symptoms in children with autism spectrum disorder (ASD). METHODS: From September 2018 to September 2019, an investigation was performed for 1 020 children with ASD and 1 038 healthy children matched for age and sex in the outpatient service of grade A tertiary hospitals and special education institutions in 13 cities of China. Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS), and Childhood Autism Rating Scale (CARS) were used to assess the core symptoms of the children with ASD. The inductively coupled plasma mass spectrometry was used to measure serum levels of trace elements magnesium, iron, copper, and zinc. RESULTS: The children with ASD had significantly lower serum levels of magnesium, copper, and zinc than the healthy children ( CONCLUSIONS The serum levels of magnesium and zinc may be associated with core symptoms in children with ASD, which requires further studies. The nutritional status of trace elements should be monitored for children with ASD in clinical practice.
Autism Spectrum Disorder ; Child ; China ; Copper/analysis* ; Humans ; Trace Elements/analysis* ; Zinc

In this paper, some quality problems of mineral medicine Calamina and calcined Calamina have been discussed after determination and analysis of the quality parameters of a large number of market samples, and the countermeasures are put forward. According to the XRD results, as well as the results of tests included in Chinese Pharmacopoeia(2015 edition), the authenticity of Calamina and calcined Calamina samples were identified. The content of zinc oxide in samples were determined by the method of determination in Chinese Pharmacopoeia. Individually, inductively coupled plasma mass spectrometry(ICP-MS), inductively coupled plasma atomic emission spectrometry(ICP-AES) and atomic fluorescence spectrometry(AFS) methods were used for the determination of impurity elements and harmful elements in Calamina and calcined Calamina samples. Four kinds of impurity elements of magnesium(Mg), iron(Fe), aluminum(Al), calcium(Ca) and five harmful elements such as lead(Pb), cadmium(Cd), arsenic(As), copper(Cu), mercury(Hg) were measured. The study showed that: ① Fake Calamina products on the market were overflowing; ② The mineral origin of the mainstream Calamina in the market is inconsistent with that stipulated in Chinese Pharmacopoeia(2015 edition); ③ The contents of harmful elements Pb and Cd in Calamina and calcined Calamina are generally higher, while the contents of harmful elements As and Cu in some inferior Calaminae are higher; ④ Parts of calcined Calamina were improperly or inadequately processed. In view of these quality problems, the countermeasures are put forward as follows: ① It is suggested that hydrozincite should be approved as the mineral source of Calamina, and be included by Chinese Pharmacopoeia; ② Strengthen the research on the specificity of Calamina identification methods to improve the quality control level; ③ Strengthen the research on the processing of Calamina, and formulate the limit standards for the content of Pb and Cd in Calamina; ④ Carry out research on the artificial synthesis of Calamina and calcined Calamina, in order to cope with the current shortage of Calamina resources and ensure the sustainable development of Calamina medicinal materials.
Arsenic ; Cadmium ; Copper ; Drug Combinations ; Drugs, Chinese Herbal/standards* ; Ferric Compounds/standards* ; Iron ; Lead ; Medicine, Chinese Traditional ; Mercury ; Minerals ; Quality Control ; Trace Elements/analysis* ; Zinc Oxide/standards*

BACKGROUND/OBJECTIVES: This study was performed to measure fat-soluble vitamins and minerals in breast milk of Korean lactating mothers who exclusively breastfed their babies. SUBJECTS/METHODS: Breast milk samples were collected from 334 mothers. Concentrations of retinol and α-tocopherol were analyzed by high performance liquid chromatography ultraviolet spectrometry while concentrations of minerals were measured by inductively coupled plasma optical emission spectrometry. RESULTS: Retinol and α-tocopherol contents of breast milk were 39.58 ± 19.64 µg/dL and 0.23 ± 0.13 mg/dL, respectively. Average sodium, potassium, calcium, phosphorus, and magnesium levels in breast milk were 11.11 ± 5.16, 38.56 ± 9.01, 27.87 ± 6.10, 13.56 ± 3.30, and 3.05 ± 0.65 mg/dL, respectively. Contents of trace elements such as iron, zinc, copper, and manganese were 40.26 ± 46.21, 98.40 ± 62.47, 24.09 ± 9.03, and 0.90 ± 1.63 µg/dL, respectively. Fat-soluble vitamin concentration was positively correlated with total fat in milk samples, but no significant differences were observed in levels of retinol, α-tocopherol, or minerals based on whether or not lactating women were taking dietary supplements. CONCLUSIONS: Micronutrient contents of breast milk samples from Korean lactating women were comparable to those of other nations. Retinol and α-tocopherol levels were correlated and also with total fat in breast milk.
Breast* ; Calcium ; Chromatography, Liquid ; Copper ; Dietary Supplements ; Fats ; Female ; Humans ; Infant* ; Iron ; Korea* ; Magnesium ; Manganese ; Micronutrients ; Milk ; Milk, Human* ; Minerals* ; Miners* ; Mothers ; Phosphorus ; Plasma ; Potassium ; Sodium ; Spectrum Analysis ; Trace Elements ; Vitamin A* ; Vitamins ; Zinc

OBJECTIVETo delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.

METHODSClinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene.

RESULTSThe patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were noted. Cranial magnetic resonance imaging and angiography revealed cortical atrophy, leukoencephalopathy and circuitous of intracranial vessels. The plasma ceruloplasmin was decreased. MLPA has identified a deletion spanning exons 8 to 12 of the ATP7A gene. His mother was found to be a heterozygous carrier of the same mutation.

CONCLUSIONThe clinical features and a novel mutation of the ATP7A gene of the family have been delineated.

Adenosine Triphosphatases ; genetics ; Adult ; Asian Continental Ancestry Group ; genetics ; Cation Transport Proteins ; genetics ; China ; Copper-transporting ATPases ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome ; genetics ; Mutation ; Pedigree

The ability of dead cells of endophytic Drechslera hawaiiensis of Morus alba L. grown in heavy metals habitats for bioremoval of cadmium (Cd²⁺), copper (Cu²⁺), and lead (Pb²⁺) in aqueous solution was evaluated under different conditions. Whereas the highest extent of Cd²⁺ and Cu²⁺ removal and uptake occurred at pH 8 as well as Pb²⁺ occurred at neutral pH (6–7) after equilibrium time 10 min. Initial concentration 30 mg/L of Cd²⁺ for 10 min contact time and 50 to 90 mg/L of Pb²⁺ and Cu²⁺ supported the highest biosorption after optimal contact time of 30 min achieved with biomass dose equal to 5 mg of dried died biomass of D. hawaiiensis. The maximum removal of Cd²⁺, Cu²⁺, and Pb²⁺ equal to 100%, 100%, and 99.6% with uptake capacity estimated to be 0.28, 2.33, and 9.63 mg/g from real industrial wastewater, respectively were achieved within 3 hr contact time at pH 7.0, 7.0, and 6.0, respectively by using the dead biomass of D. hawaiiensis compared to 94.7%, 98%, and 99.26% removal with uptake equal to 0.264, 2.3, and 9.58 mg/g of Cd²⁺, Cu²⁺, and Pb²⁺, respectively with the living cells of the strain under the same conditions. The biosorbent was analyzed by Fourier Transformer Infrared Spectroscopy (FT-IR) analysis to identify the various functional groups contributing in the sorption process. From FT-IR spectra analysis, hydroxyl and amides were the major functional groups contributed in biosorption process. It was concluded that endophytic D. hawaiiensis biomass can be used potentially as biosorbent for removing Cd²⁺, Cu²⁺, and Pb²⁺ in aqueous solutions.
Amides ; Biomass ; Cadmium ; Copper ; Ecosystem* ; Fourier Analysis ; Hydrogen-Ion Concentration ; Metals, Heavy* ; Morus* ; Spectrum Analysis ; Waste Water

The rapidly increasing annual global volume of e-waste, and of its inherently valuable fraction, has created an opportunity for individuals in Agbogbloshie, Accra, Ghana to make a living by using unconventional, uncontrolled, primitive and crude procedures to recycle and recover valuable metals from this waste. The current form of recycling procedures releases hazardous fractions, such as heavy metals, into the soil, posing a significant risk to the environment and human health. Using a handheld global positioning system, 132 soil samples based on 100 m grid intervals were collected and analysed for cadmium (Cd), chromium (Cr), copper (Cu), mercury (Hg), lead (Pb) and zinc (Zn). Using geostatistical techniques and sediment quality guidelines, this research seeks to assess the potential risk these heavy metals posed to the proposed Korle Ecological Restoration Zone by informal e-waste processing site in Agbogbloshie, Accra, Ghana. Analysis of heavy metals revealed concentrations exceeded the regulatory limits of both Dutch and Canadian soil quality and guidance values, and that the ecological risk posed by the heavy metals extended beyond the main burning and dismantling sites of the informal recyclers to the school, residential, recreational, clinic, farm and worship areas. The heavy metals Cr, Cu, Pb and Zn had normal distribution, spatial variability, and spatial autocorrelation. Further analysis revealed the decreasing order of toxicity, Hg>Cd>Pb> Cu>Zn>Cr, of contributing significantly to the potential ecological risk in the study area.
Agriculture ; Burns ; Cadmium ; Chromium ; Copper ; Geographic Information Systems ; Ghana ; Humans ; Metals ; Metals, Heavy ; Recycling ; Soil ; Spatial Analysis ; Zinc

OBJECTIVETo analyze the features of genetic mutations underlying Wilson's disease and provide prenatal and presymptomatic diagnosis.

METHODSFor 35 pedigrees affected with the disease, the exons and exon-intron boundaries of the ATP7B gene were amplified with polymerase chain reaction and subjected to Sanger sequencing. After the genotypes of parents of the probands were determined, prenatal diagnosis were performed through chorionic villus sampling.

RESULTSThe overall rate for mutation detection was 92.9%. A total of 24 distinct mutations were detected, which included 7 novel mutations, i.e., c.3871G>A(p.A1291T), c.2593_2594insGTCA, c.2790_2792delCAT, c.3661_3663delGGG, c.3700delG, c.4094_4097delCTGT, and IVS6+1G>A. Three mutations, including R778L (c.2333G>T)(45.7%), A874V (c.2621C>T)(7.1%) and P992L (c.2975C>T)(7.1%), were relatively common. Two presymptomatic patients were detected through familial screening, for whom treatment was initiated. Prenatal genetic diagnosis has verified three healthy fetuses and one carrier.

CONCLUSIONIn this study the most popular mutation ofATP7B gene is R778L and 7 novel mutations have been identified in this gene. For pedigrees of Wilson's disease, genetic counseling in addition with prenatal and presymptomatic diagnosis should be provided through Sanger sequencing and haplotype analysis.

Adenosine Triphosphatases ; genetics ; Adult ; Base Sequence ; Cation Transport Proteins ; genetics ; Copper-transporting ATPases ; DNA Mutational Analysis ; Female ; Genotype ; Hepatolenticular Degeneration ; embryology ; enzymology ; genetics ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVES: This study examined the spatial distribution and the extent of soil contamination by heavy metals resulting from primitive, unconventional informal electronic waste recycling in the Agbogbloshie e-waste processing site (AEPS) in Ghana. METHODS: A total of 132 samples were collected at 100 m intervals, with a handheld global position system used in taking the location data of the soil sample points. Observing all procedural and quality assurance measures, the samples were analyzed for barium (Ba), cadmium (Cd), cobalt (Co), chromium (Cr), copper (Cu), mercury (Hg), nickel (Ni), lead (Pb), and zinc (Zn), using X-ray fluorescence. Using environmental risk indices of contamination factor and degree of contamination (Cdeg), we analyzed the individual contribution of each heavy metal contamination and the overall Cdeg. We further used geostatistical techniques of spatial autocorrelation and variability to examine spatial distribution and extent of heavy metal contamination. RESULTS: Results from soil analysis showed that heavy metal concentrations were significantly higher than the Canadian Environmental Protection Agency and Dutch environmental standards. In an increasing order, Pb>Cd>Hg>Cu>Zn>Cr>Co>Ba>Ni contributed significantly to the overall Cdeg. Contamination was highest in the main working areas of burning and dismantling sites, indicating the influence of recycling activities. Geostatistical analysis also revealed that heavy metal contamination spreads beyond the main working areas to residential, recreational, farming, and commercial areas. CONCLUSIONS: Our results show that the studied heavy metals are ubiquitous within AEPS and the significantly high concentration of these metals reflect the contamination factor and Cdeg, indicating soil contamination in AEPS with the nine heavy metals studied.
Agriculture ; Barium ; Burns ; Cadmium ; Chromium ; Cobalt ; Copper ; Electronic Waste* ; Fluorescence ; Ghana* ; Metals ; Metals, Heavy* ; Nickel ; Recycling* ; Soil* ; Spatial Analysis ; United States Environmental Protection Agency ; Zinc