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BackgroundAimMethodsResultsConclusionWilson disease is an autosomal recessive disorder owing to defective copper metabolism which causes abnormal accumulation of copper and damage to the liver, brain, kidneys and other organs.To describe the clinical features, laboratory investigations and outcome of Wilson disease in children.A retrospective observational study was conducted in the paediatric department of a tertiary- care hospital in South India by reviewing medical records between January 2018 and March 2023. The diagnosis of Wilson disease was confirmed by the presence of low serum ceruloplasmin and/or high urine copper excretion in combination with clinical and ophthalmological features.A total of 32 cases were analysed. The mean (SD) age at presentation was 110 (36) months with a M:F ratio of 1.6:1. Isolated hepatic involvement was seen in 19 (60%) patients while 13 (40%) patients had a neurological presentation, either as an isolated entity or in combination with hepatic manifestations. Low serum ceruloplasmin levels were detected in 31 (96%) patients. Urine copper levels were elevated in all patients. Twenty-one patients were commenced on D penicillamine while 11 patients were treated with a combination chelation therapy with zinc. Eighteen patients (56%) were on regular follow-up.The clinical presentation of Wilson disease in children is diverse, varying from the more common hepatic or neurological manifestations to the less common atypical forms of the disease. Diagnosis is based on clinical and ophthalmological features in combination with biochemical abnormalities in the form of low ceruloplasmin and high urinary copper. The majority of patients can be medically managed with chelation therapy. [ABSTRACT FROM AUTHOR]

To study the clinical profile and laboratory characteristics and treatment of children with Wilson’s disease (WD). The current study was done at Department of pediatrics, Sir Padampat Institute of Neonatology and Pediatric Health, Sawai Man Singh Medical College, Jaipur. It was an observational study and institution ethics committee approved the study. Patients visiting the outpatient department or admitting in wards with clinical presentation suggestive of WD were enrolled in the study after obtaining a valid informed written consent. Patients subjected to detailed clinical history and physical examination. All patients subjected to routine blood count, biochemistry including liver function tests and specific laboratory investigations. They underwent ophthalmological examination. Ultrasonography abdomen and liver biopsy performed in enrolled patients. Magnetic resonance imaging brain carried out in patients with neurological WD. Ferenci score was calculated for each of the patients. Total 50 patients were included in the study. Mean age at the time of diagnosis was 9.4 years with delay of 11 months after onset of symptoms. Male is to female ratio was 2/1. Hepatic manifestation were seen in 76% patients and 24% patients presented with neurological disease. Kayser-Fleischer ring was seen in 44% patients with hepatic disease and 83% patients with neurological disease. Twenty-four hour urinary copper was more than 2 time of upper limit of normal in all patients. Fifty-four percent patients showed improvement with chelation therapy and 9 patients died during the study period. WD in children has varied clinical manifestation and early diagnosis is necessary for good prognosis. It requires wide range of tests as genetic testing is not easily available. Acute liver failure has high mortality. Early chelation therapy reverses the clinical and biochemical abnormalities.

Background Wilson disease (WD) is an autosomal recessive disorder that leads to organ toxicity due to copper overload. Early diagnosis is complicated by the rarity and diversity of manifestations.

Background: Wilson disease (WD) is a rare and potentially fatal genetic disorder caused by accumulation of toxic levels of copper. Current treatments include chelating agents and/or zinc. We characterized real-world US treatment patterns in patients with WD. Methods: This retrospective, observational medical chart review utilized deidentified clinical data, including treatment patterns, abstracted from patient medical charts between 01/2012 and 06/2017. Line of therapy was assessed based on disease presentation and aggregated. Index treatment was defined as the first line of therapy, followed by second line of therapy and third line of therapy. Results were summarized using descriptive statistics. Results: A total of 225 patients were included (mean [SD] age at diagnosis: 24.7 [9.8] years). Initial disease presentation was both neurologic/psychiatric and hepatic in 52.9%, followed by neurologic/psychiatric (20.0%), hepatic (16.9%), and asymptomatic (10.2%). Median (first and third quartiles) duration of follow-up from diagnosis was 39.5 (33.8-60.4) months. The most common first line of therapy was penicillamine monotherapy in 45.5%, followed by trientine monotherapy (26.1%) and chelator/zinc combination therapy (21.2%). A total of 167/222 (75.2%) patients remained on first line of therapy during the follow-up period. Of the 13.5% who switched to second line of therapy, most changed to trientine monotherapy (53.3%). All those who switched to third line of therapy transitioned to zinc monotherapy (100.0%). Unexpectedly, 11.3% discontinued first line of therapy without transitioning to a subsequent therapy. The primary rationale for index monotherapy selection was improved efficacy (61.6%). Most discontinuations were due to side effects/tolerability (40.8%). Treatment patterns varied by initial disease presentation, practice setting, physician specialty, and geographic location. Conclusion: These results demonstrate a lack of consensus in the US regarding first-line treatment for patients with WD. Evidence-based treatment pathways informed by high-quality clinical trials for improved health outcomes are needed. [ABSTRACT FROM AUTHOR]

Background Lipoid proteinosis (LP), also known as Urbach–Wiethe disease, is a rare autosomal recessive genodermatosis, caused by mutations in the ECM1 gene. This results in the deposition of periodic acid–Schiff (PAS)-positive, hyaline-like material on the skin, mucosae and internal organs. Objectives To present a case report of LP and a systematic review to synthesize the scientific literature on the management of this uncommon and frequently missed diagnosis. Methods We present a case report of a 48-year-old man with LP who exhibited significant improvement after oral acitretin therapy. To address the lack of large case–control studies on LP treatment, we performed a systematic review of the literature following the PRISMA 2020 criteria. The search was conducted in PubMed, Web of Science, Cochrane and Scopus databases from inception until June 2023. To assess the methodological quality of case reports and case series, we used the Joanna Briggs Collaboration critical appraisal tool. Results We included 25 studies that met eligibility criteria. Data from 44 patients with a histopathologically confirmed diagnosis were analysed. Treatment ranged from systemic therapies (acitretin, etretinate, dimethyl sulfoxide, corticosteroids, penicillamine) to surgical or laser procedures. Regarding methodological quality, the main discrepancies arose in the reporting of participant characteristics and treatment interventions. Conclusions Low-dose oral acitretin could have potential in managing LP, exhibiting fewer side-effects compared with other therapeutic agents. Further research is needed to establish more comprehensive and evidence-based treatment guidelines. [ABSTRACT FROM AUTHOR]

To study the clinical profile and laboratory characteristics and treatment of children with Wilson's disease (WD). The current study was done at Department of pediatrics, Sir Padampat Institute of Neonatology and Pediatric Health, Sawai Man Singh Medical College, Jaipur. It was an observational study and institution ethics committee approved the study. Patients visiting the outpatient department or admitting in wards with clinical presentation suggestive of WD were enrolled in the study after obtaining a valid informed written consent. Patients subjected to detailed clinical history and physical examination. All patients subjected to routine blood count, biochemistry including liver function tests and specific laboratory investigations. They underwent ophthalmological examination. Ultrasonography abdomen and liver biopsy performed in enrolled patients. Magnetic resonance imaging brain carried out in patients with neurological WD. Ferenci score was calculated for each of the patients. Total 50 patients were included in the study. Mean age at the time of diagnosis was 9.4 years with delay of 11 months after onset of symptoms. Male is to female ratio was 2/1. Hepatic manifestation were seen in 76% patients and 24% patients presented with neurological disease. Kayser-Fleischer ring was seen in 44% patients with hepatic disease and 83% patients with neurological disease. Twenty-four hour urinary copper was more than 2 time of upper limit of normal in all patients. Fifty-four percent patients showed improvement with chelation therapy and 9 patients died during the study period. WD in children has varied clinical manifestation and early diagnosis is necessary for good prognosis. It requires wide range of tests as genetic testing is not easily available. Acute liver failure has high mortality. Early chelation therapy reverses the clinical and biochemical abnormalities. [ABSTRACT FROM AUTHOR]

OBJECTIVE The study aims to describe drug shortages affecting lead chelators in the United States from 2001 through 2022. METHODS Drug shortage data were retrieved from the University of Utah Drug Information Service from January 1, 2001, through December 31, 2022. Shortages of first- and second-line lead chelators were analyzed. Drug class, formulation, administration route, shortage reason, shortage duration, generic status, single-source status, and presence of temporally overlapping shortages were examined. Total shortage months, percentages of study period on shortage, and median shortage durations were calculated. RESULTS Thirteen lead chelator shortages were reported during the study period. Median duration was 7.4 months and the longest shortage (24.8 months) involved calcium disodium edetate. Calcium disodium edetate and dimercaprol had the greatest number of shortages, 4 each, and 61.5% of shortages involved parenteral medications. Median shortage duration was 14.2 months for parenteral agents and 2.2 months for non-parenteral agents. All shortages involved generic, single-source products. Supply/demand and manufacturing problems were the most common shortage reasons provided. Overlapping shortages occurred for 3.7% of the study period. Median shortage duration increased from 3 to 11 months in the second half of the study period, and 61.5% of shortages occurred in the second half of the study period. CONCLUSIONS All chelators experienced multiple shortages, which became increasingly frequent and prolonged over time. Concurrent shortages occurred, potentially hampering substitution between different agents. Health care stakeholders must build supply chain resilience and develop guidelines regarding how to modify chelation therapy based on shortage conditions. [ABSTRACT FROM AUTHOR]

In addition to its primary oxygen-atom-transfer function, cysteamine dioxygenase (ADO) exhibits a relatively understudied anaerobic disproportionation reaction (ADO-Fe(III)-SR → ADO-Fe(II) + ½ RSSR) with its native substrates. Inspired by ADO disproportionation reactivity, we employ [Fe(tacn)Cl3] (tacn = 1,4,7-triazacyclononane) as a precursor for generating Fe(III)–thiolate model complexes in buffered aqueous media. A series of Fe(III)–thiolate model complexes are generated in situ using aqueous [Fe(tacn)Cl3] and thiol-containing ligands cysteamine, penicillamine, mercaptopropionate, cysteine, cysteine methyl ester, N-acetylcysteine, and N-acetylcysteine methyl ester. We observe trends in UV–Vis and electron paramagnetic resonance (EPR) spectra, disproportionation rate constants, and cathodic peak potentials as a function of thiol ligand. These trends will be useful in rationalizing substrate-dependent Fe(III)–thiolate disproportionation reactions in metalloenzymes. [ABSTRACT FROM AUTHOR]

BackgroundWilson disease (WD) is a rare and potentially fatal genetic disorder caused by accumulation of toxic levels of copper. Current treatments include chelating agents and/or zinc. We characterized real-world US treatment patterns in patients with WD.MethodsThis retrospective, observational medical chart review utilized deidentified clinical data, including treatment patterns, abstracted from patient medical charts between 01/2012 and 06/2017. Line of therapy was assessed based on disease presentation and aggregated. Index treatment was defined as the first line of therapy, followed by second line of therapy and third line of therapy. Results were summarized using descriptive statistics.ResultsA total of 225 patients were included (mean [SD] age at diagnosis: 24.7 [9.8] years). Initial disease presentation was both neurologic/psychiatric and hepatic in 52.9%, followed by neurologic/psychiatric (20.0%), hepatic (16.9%), and asymptomatic (10.2%). Median (first and third quartiles) duration of follow-up from diagnosis was 39.5 (33.8–60.4) months. The most common first line of therapy was penicillamine monotherapy in 45.5%, followed by trientine monotherapy (26.1%) and chelator/zinc combination therapy (21.2%). A total of 167/222 (75.2%) patients remained on first line of therapy during the follow-up period. Of the 13.5% who switched to second line of therapy, most changed to trientine monotherapy (53.3%). All those who switched to third line of therapy transitioned to zinc monotherapy (100.0%). Unexpectedly, 11.3% discontinued first line of therapy without transitioning to a subsequent therapy. The primary rationale for index monotherapy selection was improved efficacy (61.6%). Most discontinuations were due to side effects/tolerability (40.8%). Treatment patterns varied by initial disease presentation, practice setting, physician specialty, and geographic location.ConclusionThese results demonstrate a lack of consensus in the US regarding first-line treatment for patients with WD. Evidence-based treatment pathways informed by high-quality clinical trials for improved health outcomes are needed.

Penicillamine, an amino acid derivative that does not participate in the protein structure, is a trifunctional organic molecule composed of a carboxylic acid, a thiol, and an amine. D-Penicillamine (PEN-1), N-Acetyl-D-Penicillamine (PEN-2) and D Penicillamine disulfide (PEN-3), which are used in the treatment of many diseases, especially Wilson's disease, are produced by carbonic anhydrase I and II (hCA I) in vitro. Inhibition effects on hCA II) isoenzymes were investigated. hCA I, hCA II enzymes were isolated from human erythrocyte cells. It was determined that PEN-1, PEN-2, and PEN-3 effectively inhibited both purified enzymes. The IC50 values of PEN-1, PEN-2, and PEN-3 molecules were calculated to be 387.21, 407.49, and 106.75 µM for hCA I, 563.72 364.87, and 136.91 µM for hCA II, respectively. The inhibition type for all molecules was determined as competitive inhibition in both enzymes. [ABSTRACT FROM AUTHOR]

Wilson's disease (WD) with acute onset poses a diagnostic challenge because it is clinically indistinguishable from other acute liver diseases. In addition, serum ceruloplasmin and urinary copper excretion, the first-line diagnostic tools for WD, can show false positive results in the case of acute liver failure, and the diagnostic role of genetic analysis is limited by the time required to perform it. In the case of fulminant onset, there is a clear indication of liver transplantation. "New Wilson Index" is frequently used to discriminate between patients who need liver transplantation versus those who can be successfully managed by medical treatment, but its reliability remains controversial. Timely referral of patients with acute liver failure due to WD may be a key factor in improving patient survival. Although liver transplant very often represents the only chance for such patients, maximum effort should be made to promote survival with a native liver. The management of these aspects of WD is still a matter of debate and will be the subject of this review. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Lead exposures occur through many routes to the human body in a wide range of occupations. Chronic lead exposure can lead to a myriad of symptoms and signs. The most common manifestations are neurological. In our case series, we found chronic lead toxicity presenting as wrist drops and foot drops. Cases also had anemia and liver dysfunction. Occupational history is very important in wrist drops and foot drops to suspect plumbisms as serum lead level is not available everywhere. We have also observed that outdoor-based penicillamine treatment is efficacious. [ABSTRACT FROM AUTHOR]

Self‐assembled chiral superstructures represent an emerging class of chiral materials that can possess unique and collective chiroptical properties superior to their building blocks. However, facile construction of such chiral assemblies, especially those with circularly polarized light emission (CPLE), is still challenging. Here, a simple solution‐based self‐assembly of colloidal chiral superstructures from copper‐penicillamine nanosheets is reported. These chiral copper superstructures feature flower‐like morphology, and exhibit CPLE that is significantly stronger than their unassembled counterparts. In addition, the handedness and the morphology complexity of the superstructures can be independently manipulated by the chirality of penicillamine enantiomers and self‐assembly process, respectively. Besides the structural manipulation, CPLE property can be tuned by doping with other metal ions such as silver. The unique chiroptical and colloidal properties of the chiral copper superstructures as well as the simplicity of the self‐assembly enable rational design of CPLE materials with hierarchical chirality and may advance the applications in chiral sensing, asymmetric catalysis, and novel optoelectronics. [ABSTRACT FROM AUTHOR]

Objective　To investigate the effect of dimercaptosuccinic acid (DMSA) combined with zinc sulfate versus Dpenicillamine (DPA) monotherapy in the treatment of children with Wilson’s Disease (WD), and to provide a reference for clinical medication. Methods　A total of 111 children with WD, aged 2－18 years, who were admitted to the Fifth Medical Center of Chinese PLA General Hospital from May 2018 to May 2021 were enrolled in this study and were randomly divided into DMSA+zinc sulfate treatment group (combination group with 52 children) and DPA monotherapy group (monotherapy group with 59 children), and the two groups were compared in terms of liver function parameters and 24－hour urinary copper at baseline and 6 and 12 months of treatment. The Mann－Whitney U test was used for comparison of continuous data between two groups, and the Wilson rank sum test was used for comparison within each group; the chi－square test or the Fisher’s test was used for comparison of categorical data between two groups. Results　At 12 months of treatment, the combination group had a significantly lower loss to follow－up rate due to adverse drug reactions than the monotherapy group ［3.85% ( 2/52) vs 20.34% ( 12/59), χ2=6.821, P=0.009］. At 6 and 12 months of treatment, both the combination group and the monotherapy group had significant improvements in alanine aminotransferase and aspartate aminotransferase (all P< 0.001), while there were no significant differences between the two groups after treatment (all P>0.05) . Both groups had an increase in 24－hour urinary copper at 6 months of treatment and a reduction at 12 months of treatment, with a level of 123.00 (80.25－204.04) μg/24 h in the combination group and 239.50 (171.50－490.25) μg/24 h in the monotherapy group, and the monotherapy group had a significantly higher level of 24－hour urinary copper than the combination group ( Z= －3.090, P=0.002) . For both groups at 12 months of treatment, there was a reduction in LSM in the children with a liver stiffness measurement (LSM) of ≥7.3 kPa; LSM was reduced by 1.8 (0.3－7.2) kPa in the 22 children in the combination group and was reduced by 2.2 (0.9－7.0) kPa in the 13 children in the monotherapy group; the children with a reduction in LSM accounted for 81.82% and 84.62%, respectively, in the two groups, with no significant difference between the two groups (χ2=0.127, P=0.721) . Conclusion　In the treatment of WD, although DMSA combined with zinc sulfate has lower urinary copper excretion than DPA monotherapy, there is no significant difference in clinical efficacy between the two regimens, and DMSA combined with zinc sulfate has better safety than DPA monotherapy. [ABSTRACT FROM AUTHOR]

Abstract Objective To analyze and explore the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD) at diagnosis. Methods This retrospective study was conducted at the First Affiliated Hospital of the Guangdong Pharmaceutical University on 68 patients with purely hepatic WD aged 20.6 ± 7.2 years. The physical examinations, laboratory tests, color Doppler ultrasound of the liver and spleen, and magnetic resonance imaging (MRI) of the brain were performed. Results The elevated alanine transaminase (ALT) and aspartate transaminase (AST) levels and 24-h urinary copper level were higher in the purely hepatic WD who developed neurological symptoms (NH-WD) group than those in the purely hepatic WD (H-WD) group. Adherence to low-copper diet, and daily oral doses of penicillamine (PCA) and zinc gluconate (ZG) were lower in the NH-WD group than those in the H-WD group. Logistic regression analysis showed that insufficient doses of PCA and ZG were associated with the development of neurological symptoms in patients with purely hepatic WD at diagnosis. Conclusion The development of neurological symptoms in patients with purely hepatic WD was closely associated with insufficient doses of PCA and ZG, and the inferior efficacy of copper-chelating agents. During the course of anti-copper treatment, the patient's medical status and the efficacy of copper excretion should be closely monitored.

Background and aimsWilson disease (WD) is caused by mutations in the copper transporter ATP7B, with its main pathology attributed to copper-mediated oxidative damage. The limited therapeutic effect of copper chelators and the early occurrence of mitochondrial deficits, however, undermine the prevalence of this mechanism.MethodsWe characterized mitochondrial DNA copy number and mutations as well as bioenergetic deficits in blood from patients with WD and in livers of tx-j mice, a mouse model of hepatic copper accumulation. In vitro experiments with hepatocytes treated with CuSO4 were conducted to validate in vivo studies.ResultsHere, for the first time, we characterized the bioenergetic deficits in WD as consistent with a mitochondrial DNA depletion-like syndrome. This is evidenced by enriched DNA synthesis/replication pathways in serum metabolomics and decreased mitochondrial DNA copy number in blood of WD patients as well as decreased mitochondrial DNA copy number, increased citrate synthase activity, and selective Complex IV deficit in livers of the tx-j mouse model of WD. Tx-j mice treated with the copper chelator penicillamine, methyl donor choline or both ameliorated mitochondrial DNA damage but further decreased mitochondrial DNA copy number. Experiments with copper-loaded HepG2 cells validated the concept of a direct copper-mitochondrial DNA interaction.ConclusionsThis study underlines the relevance of targeting the copper-mitochondrial DNA pool in the treatment of WD separate from the established copper-induced oxidative stress-mediated damage.

Wilsons disease is a rare inherited disorder which is characterized by impaired copper excretion which leads to excessive deposition of copper in many tissues and organs like brain, liver, and eye. This is also charac terized by K aiser-Fleischer ring, low serum ceruloplasmin levels and elevated urinary copper excretion [1]. A 26year male patient came to the neurology department with chief complaints of involuntary tremors of both hands and difficulty in walking in the last one month associated with swaying to one side in the last 20 days. On examination the patient is having Kaiser-Fleisher ring positive and upon further investigation Magnetic resonance imaging brain was performed which revealed the features in favor of Wilson's disease. And for this condition the patient is treated with chelating agents and benzodiazepines. [ABSTRACT FROM AUTHOR]

Chiral inorganic superstructures have received considerable interest due to the chiral communication between inorganic compounds and chiral organic additives. However, the demanding fabrication and complex multilevel structure seriously hinder the understanding of chiral transfer and self‐assembly mechanisms. Herein, we use chiral CuO superstructures as a model system to study the formation process of hierarchical chiral structures. Based on a simple and mild synthesis route, the time‐resolved morphology and the in situ chirality evolution could be easily followed. The morphology evolution of the chiral superstructure involves hierarchical assembly, including primary nanoparticles, intermediate bundles, and superstructure at different growth stages. Successive redshifts and enhancements of the CD signal support chiral transfer from the surface penicillamine to the inorganic superstructure. Full‐field electro‐dynamical simulations reproduced the structural chirality and allowed us to predict its modulation. This work opens the door to a large family of chiral inorganic materials where chiral molecule‐guided self‐assembly can be specifically designed to follow a bottom‐up chiral transfer pathway. [ABSTRACT FROM AUTHOR]

Kidney injury due to medications is a well-known clinical entity. Although drug-induced tubulointerstitial disease is commonly encountered, there are few reports in the literature associated with glomerular injury due to medications. The recognition of this type of kidney injury is crucial, as rapid discontinuation of the offending agent is critical to maximizing the likelihood of quick and effective renal function recovery. In this article, we present four cases that presented with nephrotic syndrome and were diagnosed with biopsy-proven podocytopathies, associated with exposure to a certain medication. All of them experienced complete resolution of nephrotic syndrome within days or weeks after discontinuation of the offending drug. We also present the data, which were found in a Medline search from the year 1963 until the present, regarding cases with podocytopathies associated with penicillamine, tamoxifen and the combination of pembrolizumab-axitinib, including only adult cases from the English literature. The Medline search revealed nineteen cases of penicillamine-induced minimal-change disease (MCD), one case of tamoxifen-induced MCD, and none associated with pembrolizumab-axitinib therapy. We also searched for the largest studies and meta-analyses regarding drug-induced podocytopathies after a Medline search from 1967 to the present of the English literature. [ABSTRACT FROM AUTHOR]

Background. Available treatments for Wilson disease (WD) prevent longterm complications of copper accumulation. Current anti-copper agents include zinc salts, penicillamine, and trientine. Patients with WD may switch between the agents for a number of reasons. Due to the different mechanisms of action between the copper chelators and zinc salts, transitioning could require a period of overlap and increased monitoring. There are no large studies that investigate the best transition strategies between agents. In this article, we review the treatments for WD and how to monitor for treatment efficacy. Case Summary. The patient had been diagnosed with WD for over 20 years prior to establishing care in our Hepatology Clinic. During his initial course, he was transitioned from penicillamine to zinc due to evidence suggesting penicillamine had greater adverse effects in the long term. Later, he was switched to trientine. His liver enzymes and 24-hour urine copper were monitored. During these years, he intermittently had some financial hardship, requiring him to be on penicillamine rather than trientine. He also had developed acute kidney injury. Overall, his liver disease remained under control and he never had signs of decompensated cirrhosis, but had fluctuations of liver enzymes over the years. Conclusion. Anti-copper treatment for WD has to be tailored to medication side effects profile, patient's chronic and emerging comorbidities, as well as costs. Transitioning regimens is often challenging, and it requires closer monitoring, with no predictors of response.

Metal nanoparticles (NPs), such as TiO2 NPs, have been extensively researched for their potential use in aquaculture. One of the main uses of TiO2 NPs in aquaculture is as a natural water purifier. TiO2 has photocatalytic properties that make it highly effective in breaking down organic pollutants and toxic substances in water. Additionally, TiO2 NPs have been used to improve the efficiency of aquaculture feed. However, it is important to note that while the use of TiO2 NPs in aquaculture holds promise, there are also some concerns about their safety and environmental impact. Therefore, in this study, we sought to ascertain whether penicillamine and ethylenediaminetetraacetic acid (EDTA), two compounds used in the treatment of heavy metal poisoning and whose efficacy has been demonstrated in both warm-blooded animals and humans, may lessen the toxicity of TiO2 NPs in Nile tilapia. In this study, 280 Nile tilapia fries (3.20±0.12 g) were split into four treatments over the course of three replications. Following that, the OECD Guidelines for the Testing of Chemicals was used to evaluate and compare the acute toxicity of TiO2 NPs. In all stages of toxicity determination, the data demonstrated that the toxicity of TiO2 NPs in the control treatment was significantly higher than that of the treatments given penicillamine and EDTA. Finally, the efficiency of penicillamine is more than that of EDTA, and both of these drugs can be used orally to prevent and treat seafood poisoning caused by TiO2 NPs. [ABSTRACT FROM AUTHOR]

Basal ganglia-based movement abnormalities are the hallmark of the neuropsychiatry presentation of Wilson's disease. Seizures are rarely reported in Wilson's disease, especially as the initial presentation. We report a case of a 17-year-old male who was admitted with recurrent seizures and initially treated as a case of encephalitis and on subsequent follow-up diagnosed with Wilsons disease. This case highlights the importance of considering the possibility of Wilson's disease in young patients presenting with unexplained encephalopathy. [ABSTRACT FROM AUTHOR]

Objective: To analyze and explore the risk factors for neurological symptoms in patients with purely hepatic Wilson's disease (WD) at diagnosis. Methods: This retrospective study was conducted at the First Affiliated Hospital of the Guangdong Pharmaceutical University on 68 patients with purely hepatic WD aged 20.6 ± 7.2 years. The physical examinations, laboratory tests, color Doppler ultrasound of the liver and spleen, and magnetic resonance imaging (MRI) of the brain were performed. Results: The elevated alanine transaminase (ALT) and aspartate transaminase (AST) levels and 24-h urinary copper level were higher in the purely hepatic WD who developed neurological symptoms (NH-WD) group than those in the purely hepatic WD (H-WD) group. Adherence to low-copper diet, and daily oral doses of penicillamine (PCA) and zinc gluconate (ZG) were lower in the NH-WD group than those in the H-WD group. Logistic regression analysis showed that insufficient doses of PCA and ZG were associated with the development of neurological symptoms in patients with purely hepatic WD at diagnosis. Conclusion: The development of neurological symptoms in patients with purely hepatic WD was closely associated with insufficient doses of PCA and ZG, and the inferior efficacy of copper-chelating agents. During the course of anti-copper treatment, the patient's medical status and the efficacy of copper excretion should be closely monitored. [ABSTRACT FROM AUTHOR]

Penicillamine is a chelator that has been used in Wilson's disease, cystinuria, rheumatoid arthritis and heavy metal intoxication. We report a case of a 31‐year‐old man presented with skin atrophy, purpura and milia on the hips and shoulders after taking penicillamine for 1.5 years. According to literature review, this type of penicillamine‐associated cutaneous adverse effect belongs to degenerative dermopathy, which mostly occurs on bony prominences and points of pressure in patients with Wilson's disease or cystinuria. Withdrawal or reduction of drug dose can improve the features of degenerative dermopathy. [ABSTRACT FROM AUTHOR]

Wilson disease (WD) is caused by mutations in the copper transporter ATP7B, leading to copper accumulation in the liver and brain. Excess copper inhibits S-adenosyl-L-homocysteine hydrolase, leading to variable WD phenotypes from widespread alterations in DNA methylation and gene expression. Previously, we demonstrated that maternal choline supplementation in the Jackson toxic milk (tx-j) mouse model of WD corrected higher thioredoxin 1 (TNX1) transcript levels in fetal liver. Here, we investigated the effect of maternal choline supplementation on genome-wide DNA methylation patterns in tx-j fetal liver by whole-genome bisulfite sequencing (WGBS). Tx-j Atp7b genotype-dependent differences in DNA methylation were corrected by choline for genes including, but not exclusive to, oxidative stress pathways. To examine phenotypic effects of postnatal choline supplementation, tx-j mice were randomized to one of six treatment groups: with or without maternal and/or continued choline supplementation, and with or without copper chelation with penicillamine (PCA) treatment. Hepatic transcript levels of TXN1 and peroxiredoxin 1 (Prdx1) were significantly higher in mice receiving maternal and continued choline with or without PCA treatment compared to untreated mice. A WGBS comparison of human WD liver and tx-j mouse liver demonstrated a significant overlap of differentially methylated genes associated with ATP7B deficiency. Further, eight genes in the thioredoxin (TXN) pathway were differentially methylated in human WD liver samples. In summary, Atp7b deficiency and choline supplementation have a genome-wide impact, including on TXN system-related genes, in tx-j mice. These findings could explain the variability of WD phenotype and suggest new complementary treatment options for WD.

Wilson's Disease (WD) is an autosomal recessive condition that affects copper metabolism and manifests itself clinically in different ways. The diagnosis is indicated by low serum copper and ceruloplasmin concentrations, increased urine copper excretion and/ or increased hepatic copper concentrations. The present case report is about a 55-year-old male with chief complaints of loss of appetite, abdominal swelling, tremors in hand and head, slurring of speech for 10 days. Ultrasound (USG) findings were suggestive of liver cirrhosis with portal hypertension and liver function tests were also deranged. He was prescribed diuretics and asked to review after 10 days. Kayser-Fleischer ring was observed through slit lamp examination in both the eyes, which is a hallmark of WD. The Magnetic Resonance Imaging (MRI) of brain also revealed positive findings-hyperintensity throughout the mesencephalon for WD. Thereafter, the patient was treated with penicillamine and his symptoms improved after few days. [ABSTRACT FROM AUTHOR]

Copyright of Ajman Journal of Studies & Research is the property of Association of Arab Universities and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

A 12-year-old intact male Dalmatian dog presented hyporexia and vomiting for 1 week. Blood analysis revealed increased liver enzyme activity. Histopathological examination of the liver confirmed chronic hepatitis with fibrosis and necrosis. Copper staining revealed marked copper accumulation (2,770 ppm; normal range, 200 to 400 ppm), prominent in the centrilobular region, and compatible with copper-associated chronic hepatitis. However, copper metabolism domain containing 1 (COMMD1) mutation predisposing to copper accumulation in the liver tissue was not identified. The dog received medications but died 1 month after first visit. This is the first case of primary copper-associated hepatitis without COMMD1 mutation in a Dalmatian dog in South Korea. [ABSTRACT FROM AUTHOR]