BACKGROUND: Systemic lupus erythematosus (SLE) and Wilson\'s disease (WD) are both systemic diseases that can affect multiple organs in the body. The coexistence of SLE and WD is rarely encountered in clinical practice, making it challenging to diagnose.
METHODS: We present the case of a 9-year-old girl who initially presented with proteinuria, haematuria, pancytopenia, hypocomplementemia, and positivity for multiple autoantibodies. She was diagnosed with SLE, and her blood biochemistry showed elevated liver enzymes at the time of diagnosis. Despite effective control of her symptoms, her liver enzymes remained elevated during regular follow-up. Laboratory tests revealed decreased serum copper and ceruloplasmin levels, along with elevated urinary copper. Liver biopsy revealed chronic active hepatitis, moderate inflammation, moderate-severe fibrosis, and a trend towards local cirrhosis. Genetic sequencing revealed compound heterozygous mutations in the ATP7B gene, confirming the diagnosis of SLE with WD. The girl received treatment with a high-zinc/low-copper diet, but her liver function did not improve. Upon recommendation following multidisciplinary consultation, she underwent liver transplantation. Unfortunately, she passed away on the fourth day after the surgery.
CONCLUSIONS: SLE and WD are diseases that involve multiple systems and organs in the body, and SLE complicated with WD is rarely encountered in the clinic; therefore, it is easy to misdiagnose. Because penicillamine can induce lupus, it is not recommended. Liver transplantation is indicated for patients with liver disease who do not respond to medical treatment with WD. However, further research is needed to determine the optimal timing of liver transplantation for patients with SLE complicated with WD.

OBJECTIVE: Micronutrient deficiencies characterize classical \"late-diagnosed\" celiac disease (CeD). This study aimed to identify the prevalence of micronutrient deficiencies among children with \"early-diagnosed\" screening-identified CeD to determine the clinical value of routine testing for deficiencies in those patients.
METHODS: A case-control study was conducted on screening-identified CeD patients diagnosed during a mass screening study (84 patients, mean age 11.3 ± 2.6 years). The controls (443 children, mean age 10.8 ± 2.5 years) were negative for celiac disease serological screening. Hemoglobin, serum levels of iron, ferritin, folate, vitamin B12, vitamin A, vitamin E, 25-OH vitamin D, zinc, and selenium were measured.
RESULTS: The mean serum levels of hemoglobin, iron, ferritin, vitamin D, zinc, copper, and selenium were significantly lower in CeD patients than in healthy controls (hemoglobin 12.56 vs. 13.02 g/dL [p = 0.04]; iron 10.61 vs. 17.6 µmol/L [p < 0.001], ferritin 25.7 vs. 48.3 µg/L [p < 0.001], vitamin D 29.1 vs. 37.5 nmol/L, zinc 11.9 vs. 21.7 µmol/L, copper 18.9 vs. 32.5 µmol/L, selenium 1.04 vs. 1.36 µmol/L; p < 0.001). Patients with celiac and severe intestinal damage (Marsh IIIb and IIIc) had significantly lower serum ferritin and vitamin A levels than patients with mild intestinal damage (Marsh II and IIIa) (ferritin 15 vs. 22 µg/L, p < 0.025; vitamin A 0.85 vs. 1.35 µmol/L, p = 0.007).
CONCLUSIONS: Micronutrient deficiencies are still detectable in \"early-diagnosed\" screening-identified CeD cases, a clinically relevant result that strongly supports efforts for screening and early diagnosis of CeD.

BACKGROUND: An association has already been hypothesized between iron, copper, and magnesium status assessed through food frequency questionnaires (FFQs) and the risk of esophageal squamous cell carcinoma (ESCC). However, self-reported dietary assessment methods are prone to measurement errors. We studied the association between iron, copper, and magnesium status and ESCC risk, using hair samples as a long exposure biomarker.
METHODS: We designed a nested case-control study within the Golestan Cohort Study, that recruited about 50000 participants in 2004-2008, and collected biospecimens at baseline. We identified 96 incident cases of ESCC with available hair samples. They were age-matched with cancer-free controls from the cohort. We used inductively coupled plasma mass spectrometry (ICP-MS) to measure iron, copper, and magnesium concentrations in hair samples. We used multiple logistic regression models to determine odds ratios and 95% confidence intervals.
RESULTS: Median concentrations of iron, copper, and magnesium were 35.4, 19.3, and 41.7 ppm in cases and 25.8, 18.3, and 50.0 ppm in controls, respectively. Iron was significantly associated with the risk of ESCC in continuous analysis (OR=1.41, 95% CI=1.03-1.92), but not in the tertiles analyses (ORT3 vs. T1=1.81, 95% CI=0.77-4.28). No associations were observed between copper and magnesium and ESCC risk, in either the tertiles models or the continuous estimate (copper: ORT3 vs. T1=2.56, 95% CI=1.00-6.54; magnesium: ORT3 vs. T1=0.75, 95% CI=0.32-1.78).
CONCLUSIONS: Higher iron status may be related to a higher risk of ESCC in this population.

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical manifestations of WD are complex and variable, with Kayser-Fleischer ring (K-F ring) and the sunflower cataract being the most common ocular findings. Visual impairment is rare in patients with WD. We report the case of a 17-year-old female with bilateral optic atrophy associated with WD and summarize the clinical features of previously reported cases of optic neuropathy in WD, Clinicians should be aware that WD is a rare cause of optic neuropathy and that optic neuropathy in patients with WD may need to be recognized and screened.

Metal pollution can cause a decline in female fertility, however, previous studies have focused more on the effect of a single metal on fertility. In this study, we evaluated the effect of metal mixtures on female fertility based on nested case-control samples. The plasma levels of 22 metal elements from 180 women were determined by an inductively coupled plasma mass spectrometer (ICP-MS). Minimum absolute contraction and selection operator (LASSO) penalty regression selected metals with the greatest influence on clinical outcome. Logistic regression was used to analyze the correlation between single metals and fertility while a Bayesian kernel function regression (BKMR) model was used to analyze the effect of mixed metals. Eight metals (Calcium (Ca), Chromium (Cr), Cobalt (Co), Copper (Cu), Zinc (Zn), Rubidium (Rb), Strontium (Sr) and Zirconium (Zr)) were selected by LASSO regression for subsequent analysis. After adjusting for covariates, the logistic model showed that Cu (Odds Ratio(OR):0.33, 95% CI: 0.13 - 0.84) and Co (OR:0.38, 95% CI: 0.15 -0.94) caused a significant reduction in fertility, and identified the protective effect of Zn (OR: 2.96, 95% CI:1.21 -7.50) on fertility. Trend tests showed that increased Cr, Cu, and Rb levels were associated with reduced fertility. The BKMR model showed that Cr, Co, Cu, and Rb had a nonlinear relationship with fertility decline when controlling for the concentrations of other metals and suggested that Cu and Cr might exert an influence on fertility. Analysis showed a negative correlation between Cu, Cr, Co, Rb, and fertility, and a positive correlation between Zn and fertility. Furthermore, we found evidence for the interaction between Cu and Cr. Our findings require further validation and may identify new mechanisms in the future.

BACKGROUND: Wilson disease is a rare genetic disorder primarily associated with hepatic symptoms; however, its unique neurological presentation remains a subject of interest in the medical literature. This case report contributes to existing knowledge by highlighting the unusual manifestation of Wilson disease with significant neurological symptoms.
METHODS: The patient, pseudonym John Smith, presented with prominent neurological symptoms, including tremors, dystonia, and psychiatric manifestations. Clinical findings corroborated copper accumulation in the brain, prompting a thorough diagnostic investigation.
METHODS: Genetic analysis revealed two ATP7B mutations, confirming the primary diagnosis of Wilson disease. This case underscores the importance of recognizing atypical neurological presentations in the context of this rare genetic disorder.
METHODS: Chelation therapy, initiated promptly upon diagnosis, targeted copper overload. The intervention led to notable improvements in neurological symptoms and psychiatric manifestations. The dosage and duration of treatment were adjusted based on regular monitoring.
RESULTS: Regular follow-up revealed a positive trajectory, with reduced tremors and improved overall well-being. Genetic testing, coupled with clinical assessments, contributed to monitoring treatment efficacy and optimizing therapeutic interventions.
CONCLUSIONS: The main takeaway lessons from this case include the significance of a comprehensive diagnostic approach, personalized therapeutic interventions, and the imperative to acknowledge the diverse clinical spectrum of Wilson disease. Early recognition and tailored treatment contribute to favorable outcomes in cases with atypical neurological presentations.

BACKGROUND: Wilson\'s disease (WD) is an inherited disorder of copper metabolism. Agenesis of the corpus callosum is the complete or partial absence of the major united fiber bundles connecting the cerebral hemispheres. Intracranial lipoma is an adipose tissue tumor resulting from an abnormal embryonic development of the central nervous system. The simultaneous occurrence of these three disorders is rare and has not been reported. This report focuses on the pathogenesis and association between the three disorders and highlights the importance of recognizing and effectively managing their coexistence.
METHODS: The purpose of this study was to present a patient with coexisting WD, intracranial lipoma, and corpus callosum dysplasia. We reviewed a female patient hospitalized in 2023 with clinical manifestations of elevated aminotransferases and decreased ceruloplasmin, as well as genetic testing for an initial diagnosis of Wilson\'s disease. Subsequently, a cranial MRI showed corpus callosum dysplasia with short T1 signal changes in the cerebral falx, leading to a final diagnosis of Wilson\'s disease combined with intracranial lipoma and corpus callosum dysplasia. The patient\'s WD is currently stable after treatment with sodium dimercaptosulfonamide (DMPS) and penicillamine, and the patient\'s abnormal copper metabolism may promote the growth of intracranial lipoma.
CONCLUSIONS: The pathogenesis of WD combined with intracranial lipoma and corpus callosum dysplasia is complex and clinically rare. The growth of intracranial lipomas may be associated with abnormal copper metabolism in WD. Abnormal copper metabolism affects lipid metabolism and triggers inflammatory responses. Therefore, early diagnosis and treatment are beneficial for improvement. Each new case of this rare co-morbidity is important as it allows for a better assessment and understanding of these cases\' more characteristic clinical manifestations, which can help estimate the course of the disease and possible therapeutic options.

In recent times, public concerns over the potential accumulation of heavy metals in agricultural soils and crops due to the excessive use of agrochemicals are increasing. This study was conducted in the Abuakwa North Municipality of Eastern Region, Ghana, to assess the status of heavy metals in cocoa soils and beans. Cocoa farms aged between 10 and 20 years and have received agrochemicals for at least 5 years were selected, and their adjacent forests were used as controls. Soil samples and cocoa pods were collected randomly and processed for laboratory analysis. The study discovered that across the sampling sites, heavy metal concentrations in soil were below permissible limits. However, contamination factor and geo-accumulation index results revealed that Tontro cocoa farms were considerably contaminated and moderately polluted respectively with Cu, probably due to long-term fungicide application. The concentrations of Fe (39.3-47.1 mg kg-1) and Zn (54.8-70.0 mg kg-1) in the cocoa beans across the communities were below the FAO/WHO\'s safe limit of 99.4 mg kg-1 and 73.0 mg kg-1 respectively. Lead (0.03-0.06 mg kg-1) and Cd (0.12-0.20 mg kg-1) concentrations were below the EU\'s maximum allowable level and Codex Alimentarius Commission\'s limit of 1.0 mg kg-1 respectively. However, bean Cu content in the Tontro farm (51.5 mg kg-1) was slightly above the EU\'s recommended maximum limit of 50.0 mg kg-1, possibly due to the continuous application of copper-based fungicides. The study showed that, overall, agrochemicals used for cocoa farming in Abuakwa North Municipality of Ghana did not cause serious harm to the soils and beans, since the mean metal concentrations were not alarming and guarantee public health safety.

Wilson\'s disease is arare inherited disorder of copper met abolism. If le f t untre ated, i t can turn into a multi systemic disease with copper deposition in the liver, brain, a nd other tissues. Diagnosi s of Wilson\'s is delayed in Pak ist an by many ye a rs on average due to va riabl e presen tations. In ad olescents, the initial s igns a re more likely to b e neuropsychiatric. Here we present a case of Wilso n\'s disease that pre sented initially with he patic symptoms and did not have signs specific to the di sea s e such as Kayser-Fleischer rings. Our case was diagnosed to be Wilson\'s Disease on ly on further investigat ions and s ubsequently the patient was treated with chela tion therapy using D-Penicillamine.Wilson\'s Disease should be kept in mind as a differential diagno sis in adolesce nt patients that present with unexplained acute liver failure and cytopenias without any neurological symptoms, as a missed diagnosis can prove to be fatal.

Pre-eclampsia, a hypertensive disorder occurring during pregnancy, poses significant risks to maternal and fetal health worldwide. Despite extensive research, the precise cause of pre-eclampsia remains unknown. Recent studies have indicated that trace elements, essential minerals crucial for various biological processes, might be significant factors in the development of pre-eclampsia. This study examines the intricate relationship between trace elements (magnesium, copper, zinc, calcium, phosphorus, and iron) and the severity of pre-eclampsia. The study involves a total of 150 participants, categorized into three distinct groups: 50 individuals with mild pre-eclampsia, 50 with severe pre-eclampsia, and 50 healthy pregnant controls. Specifically, out of the 100 pre-eclampsia cases, 5 were identified as early-onset and 95 as late-onset. Participants were recruited from a tertiary care hospital based on stringent inclusion and exclusion criteria. All the trace elements were quantitatively measured by direct colorimetric method using the Beckman Coulter AU480 analyzer system (Beckman Coulter, USA). Pre-eclampsia cases exhibited a significantly lowered level of magnesium (2.02 mg/dL), zinc (57.62 mg/dL), calcium (8.02 mg/dL), and phosphorus (3.93 mg/dL). These levels were approximately 14.4%, 20.2%, 21.1%, and 22.6% lower when compared to healthy pregnant women. Conversely, copper (151.67 mg/dL) and iron (53 μg/dL) levels were significantly elevated in pre-eclampsia cases. Age emerged as a significant risk factor, correlating with heightened pre-eclampsia susceptibility. Magnesium showed a protective effect, correlating negatively with age and positively with gestational age. The complex relationships between trace elements, age, and pre-eclampsia underline the need for personalized interventions, potentially including magnesium supplementation, in high-risk pregnancies.