10,522 results on '"PENICILLAMINE"'
Search Results
2. Clinical and laboratory profile and outcome in children with Wilson disease: an observational study in South India.
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Srinivasan, Ranjini, Dominic, Shilpa, and George, Antony
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HEPATOLENTICULAR degeneration , *CHELATION therapy , *COPPER , *CERULOPLASMIN , *PENICILLAMINE - Abstract
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]
- Published
- 2024
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- View/download PDF
3. Safety and Superiority of Penicillamine in Radiosensitization of Recurrent Head and Neck Cancer
- Published
- 2023
4. Clinical Profile, Laboratory Characteristics and Treatment of Wilson’s Disease in Children from Western India
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Shailja Vajpayee, Alok Kumar Goyal, Yogesh Yadav, and Ruchi Agarwal
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wilson’s disease ,kf ring ,liver failure ,ceruloplasmin ,penicillamine ,Pediatrics ,RJ1-570 - Abstract
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.
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- 2024
- Full Text
- View/download PDF
5. Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases
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Marta Mitiko Deguti, Fabiana Cordeiro Araujo, Débora Raquel Benedita Terrabuio, Thiago Ferreira Araujo, Egberto Reis Barbosa, Gilda Porta, and Eduardo Luiz Rachid Cançado
- Subjects
Hepatolenticular Degeneration ,Copper-Transporting ATPases ,Movement Disorders ,Penicillamine ,Liver Cirrhosis ,Degeneração Hepatolenticular ,ATPases Transportadoras de Cobre ,Transtornos dos Movimentos ,Penicilamina ,Cirrose Hepática ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
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.
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- 2024
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- View/download PDF
6. Treatment patterns in a real-world cohort of patients with Wilson disease in the United States.
- Author
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Medici, Valentina, Kebede, Nehemiah, Stephens, Jennifer, Kunjappu, Mary, and Vierling, John M.
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DISEASE progression , *CHELATING agents , *COPPER , *SYMPTOMS , *PENICILLAMINE - Abstract
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]
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- 2024
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7. Advances in treatment for lipoid proteinosis (Urbach–Wiethe disease): a case report and systematic review.
- Author
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Bueno-Molina, Rocío C, Hernández-Rodríguez, Juan-Carlos, Cabrera-Fuentes, Raquel, Cabrera-Pérez, Rocío, Sánchez, Julián Conejo-Mir, and Pereyra-Rodríguez, José-Juan
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DIAGNOSTIC errors , *SCIENTIFIC literature , *DIMETHYL sulfoxide , *PENICILLAMINE , *OPERATIVE surgery - Abstract
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]
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- 2024
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8. Clinical Profile, Laboratory Characteristics and Treatment of Wilson's Disease in Children from Western India.
- Author
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Vajpayee, Shailja, Goyal, Alok Kumar, Yadav, Yogesh, and Agarwal, Ruchi
- Subjects
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HEPATOLENTICULAR degeneration , *LIVER biopsy , *PERIODIC health examinations , *HEPATIC artery , *CERULOPLASMIN - Abstract
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]
- Published
- 2024
- Full Text
- View/download PDF
9. Trends in Shortages of Lead Chelators From 2001 to 2022.
- Author
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Whitledge, James D., Soto, Pelayia, Glowacki, Kieran M., Calello, Diane P., Fox, Erin R., and Mazer-Amirshahi, Maryann
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SCARCITY , *CHELATION therapy , *PARENTERAL therapy , *SUPPLY chains , *LEAD poisoning - Abstract
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]
- Published
- 2024
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10. Spectroscopic, electrochemical, and kinetic trends in Fe(III)–thiolate disproportionation near physiologic pH.
- Author
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Ekanger, Levi A., Shah, Ruhi K., Porowski, Matthew E., Ziolkowski, Zach, and Calello, Alana
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ELECTRON paramagnetic resonance , *DIOXYGENASES , *ELECTRON paramagnetic resonance spectroscopy , *BIOCHEMICAL substrates , *LIGANDS (Chemistry) , *METALLOENZYMES , *PENICILLAMINE - Abstract
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]
- Published
- 2024
- Full Text
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11. Treatment patterns in a real-world cohort of patients with Wilson disease in the United States
- Author
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Valentina Medici, Nehemiah Kebede, Jennifer Stephens, Mary Kunjappu, and John M. Vierling
- Subjects
chelating agents ,copper ,penicillamine ,trientine ,zinc ,Diseases of the digestive system. Gastroenterology ,RC799-869 - Abstract
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.
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- 2024
- Full Text
- View/download PDF
12. Potansiyel karbonik anhidraz I ve II inhibitör keşfi: D-Penisilamin türevleri.
- Author
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KORKMAZ, Işıl Nihan
- Abstract
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]
- Published
- 2024
- Full Text
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13. Wilson's Disease with Acute Hepatic Onset: How to Diagnose and Treat It.
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Delle Cave, Valeria, Di Dato, Fabiola, and Iorio, Raffaele
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HEPATITIS diagnosis ,HEPATOLENTICULAR degeneration diagnosis ,BIOMARKERS ,LIVER function tests ,ALKALINE phosphatase ,BLOOD proteins ,BIOPSY ,CHRONIC active hepatitis ,PENICILLAMINE ,ZINC compounds ,GENE therapy ,HEPATOLENTICULAR degeneration ,GLOBULINS ,COPPER ,LIVER transplantation ,PLASMAPHERESIS ,ACUTE diseases ,LIVER failure ,ALANINE aminotransferase ,ASPARTATE aminotransferase ,SYMPTOMS - Abstract
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]
- Published
- 2024
- Full Text
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14. ANÁLISE COMPARATIVA DA EFICÁCIA NO TRATAMENTO DE PACIENTES COM DOENÇA DE WILSON POR MEIO DA UTILIZAÇÃO DOS DIFERENTES AGENTES QUELANTES: ZINCO, TRIENTINA, D-PENICILAMINA E TETRATIOMOLIBDATO.
- Author
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de Almeida Sampaio, Beatriz, Toledo Calheiros Nobre Sampaio, Mariana, Paulino Beserra, Olivia Nathalia, Batista Melo, Thereza Raquel, and de Oliveira, Jaim Simões
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HEPATOLENTICULAR degeneration ,COPPER ,CLINICAL deterioration ,ERYTHROCYTES ,RESEARCH questions ,CHELATING agents - Abstract
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- 2023
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15. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Order 2832/2024, Igss Code 1704, Penicillamine, Tablet O Capsule 250 Mg
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Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Order 2832/2024, Igss Code 1704, Penicillamine, Tablet O Capsule 250 Mg. Tender Notice No: 23892293 Deadline: August 23, 2024 [...]
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- 2024
16. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Penicillamine Tablet O Capsule 250 Mg Code 1704, Siaf Fyb 1768-2024
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Penicillamine Tablet O Capsule 250 Mg Code 1704, Siaf Fyb 1768-2024. Tender Notice No: 23795689 Deadline: August 23, 2024 [...]
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- 2024
17. LEPL NATIONAL HEALTH AGENCY invites tenders for Treatment of Patients with Rare Diseases and Subject to Permanent Replacement Therapy (27 03 03 06) _ Purchase of D Penicillamine
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Diseases -- Care and treatment ,Penicillamine ,News, opinion and commentary - Abstract
LEPL NATIONAL HEALTH AGENCY, Georgia has invited tenders for Treatment of Patients with Rare Diseases and Subject to Permanent Replacement Therapy (27 03 03 06) _ Purchase of D Penicillamine.. [...]
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- 2024
18. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for F-1413/2024 C-1704 Penicillamine Tablet O Capsule 250 Mg
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for F-1413/2024 C-1704 Penicillamine Tablet O Capsule 250 Mg. Tender Notice No: 23778059 Deadline: August 6, 2024 Copyright © 2011-2022 [...]
- Published
- 2024
19. Interesting Cases of Wrist Drops and Foot Drops.
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Mahavar, Sunil Kumar, Ishran, Rohit, Kasana, Rajendra Kumar, and Prasad, Mohit
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LEAD poisoning prevention , *LEAD exposure , *WRIST , *PERIPHERAL neuropathy , *IRON , *IRON in the body , *LEAD poisoning , *NEUROLOGIC manifestations of general diseases , *ZINC , *PENICILLAMINE , *ACETYLCYSTEINE , *VITAMINS , *FOOT diseases , *LEAD , *SYMPTOMS ,PERIPHERAL neuropathy diagnosis - Abstract
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]
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- 2024
- Full Text
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20. Self‐Assembled Chiral Copper Superstructures with Enhanced Circularly Polarized Light Emission.
- Author
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Jin, Yiran, Xiao, Chengyu, Tan, Lili, Chen, Zhi, Wen, Zhihao, Cheng, Yang, Fu, Wenlong, and Wang, Peng‐peng
- Subjects
- *
SILVER ions , *METAL ions , *PENICILLAMINE , *ENANTIOMERS , *CHIRALITY - Abstract
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]
- Published
- 2023
- Full Text
- View/download PDF
21. 二巯丁二酸联合硫酸锌与青霉胺治疗儿童肝豆状核变性的 效果比较.
- Author
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田雪, 徐志强, 董漪, 闫建国, 曹丽丽, 冯丹妮, 高银杰, 许世友, 毕京峰, 王福川, and 张敏
- Abstract
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]
- Published
- 2023
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22. Penicillamine
- Author
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Pant, AB
- Published
- 2024
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23. Analysis of risk factors for neurological symptoms in patients with purely hepatic Wilson’s disease at diagnosis
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Sheng-Peng Diao, Yang-Sha Zhuang, Ye-Qing Huang, Zhi-Hua Zhou, Ai-Qun Liu, and Ming-Fan Hong
- Subjects
Wilson’s disease ,Neurological symptoms ,Hepatic ,Penicillamine ,Zinc gluconate ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
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.
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- 2023
- Full Text
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24. mtDNA depletion‐like syndrome in Wilson disease
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Medici, Valentina, Sarode, Gaurav V, Napoli, Eleonora, Song, Gyu‐Young, Shibata, Noreene M, Guimarães, Andre O, Mordaunt, Charles E, Kieffer, Dorothy A, Mazi, Tagreed A, Czlonkowska, Anna, Litwin, Tomasz, LaSalle, Janine M, and Giulivi, Cecilia
- Subjects
Medical Biochemistry and Metabolomics ,Biomedical and Clinical Sciences ,Neurodegenerative ,Genetics ,Digestive Diseases ,Liver Disease ,Chronic Liver Disease and Cirrhosis ,Brain Disorders ,Rare Diseases ,Aetiology ,2.1 Biological and endogenous factors ,5.1 Pharmaceuticals ,Development of treatments and therapeutic interventions ,Animals ,Copper ,Copper-Transporting ATPases ,DNA ,Mitochondrial ,Hepatolenticular Degeneration ,Humans ,Liver ,Mice ,Penicillamine ,bioenergetics ,copper ,mitochondria ,mitochondrial DNA ,oxidative stress ,penicillamine ,Copper-transporting ATPases ,Clinical Sciences ,Gastroenterology & Hepatology ,Clinical sciences - Abstract
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.
- Published
- 2020
25. A CASE REPORT ON YOUNG ADULT WITH WILSONS DISEASE.
- Author
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Vajinepalli, Alekhya, Korlagunta, Bhavana Devi, Thota, Prudvi, Katta, Sireesha, Boddu, Naga Surya Pavan, Rao Nallani, Venkata Rama, Mythri, Ambavaram, and Nadendla, Ramarao
- Subjects
ULTRASONIC imaging of the abdomen ,HEPATOLENTICULAR degeneration diagnosis ,BENZODIAZEPINES ,LIFESTYLES ,GENETIC mutation ,VITAMIN B6 ,MAGNETIC resonance imaging ,CHELATING agents ,TREMOR ,LIVER diseases ,PENICILLAMINE ,WALKING ,ACETIC acid ,HEPATOLENTICULAR degeneration ,COPPER ,RARE diseases ,TRANQUILIZING drugs ,SYMPTOMS ,DISEASE complications ,ADULTS - Abstract
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]
- Published
- 2023
26. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Siaf 1815/2024, Code 1704 - Penicillamine Tablet O Capsule 250 Mg
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Siaf 1815/2024, Code 1704 - Penicillamine Tablet O Capsule 250 Mg. Tender Notice No: 23734892 Deadline: July 31, 2024 [...]
- Published
- 2024
27. HEALTH AFFAIRS AT THE MINISTRY OF NATIONAL GUARD invites tenders for Penicillamine Capsule 250mg
- Subjects
Military personnel ,Penicillamine ,News, opinion and commentary - Abstract
HEALTH AFFAIRS AT THE MINISTRY OF NATIONAL GUARD, Saudi Arabia has invited tenders for Penicillamine Capsule 250mg. Tender Notice No: JR663918 Deadline: July 31, 2024 Copyright © 2011-2022 pivotalsources.com. All [...]
- Published
- 2024
28. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Form: A-01 Siaf: 4099-2024 Igss Code: 1704 Penicillamine Tablet O Capsule 250 Mg. Amparo No. 01200-2016-00064
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Form: A-01 Siaf: 4099-2024 Igss Code: 1704 Penicillamine Tablet O Capsule 250 Mg. Amparo No. 01200-2016-00064. Tender Notice No: [...]
- Published
- 2024
29. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Igss Code 1704 Penicillamine Tablet O Capsule 250 Mg
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Igss Code 1704 Penicillamine Tablet O Capsule 250 Mg. Tender Notice No: 23363347 Deadline: June 17, 2024 Copyright © [...]
- Published
- 2024
30. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Order 94/2024, Igss Code 1704, Penicillamine, Tablet O Capsule 250 Mg
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Order 94/2024, Igss Code 1704, Penicillamine, Tablet O Capsule 250 Mg. Tender Notice No: 23189053 Deadline: May 31, 2024 [...]
- Published
- 2024
31. Self‐assembly Mechanism and Chiral Transfer in CuO Superstructures.
- Author
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Zhang, Jun, Vallée, Renaud A. L., Kochovski, Zdravko, Zhang, Wei, Shen, Chen, Bertram, Florian, and Pinna, Nicola
- Subjects
- *
COPPER oxide , *INORGANIC compounds , *ORGANIC compounds , *PENICILLAMINE , *CHIRALITY - Abstract
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]
- Published
- 2023
- Full Text
- View/download PDF
32. Drug-Induced Podocytopathies: Report of Four Cases and Review of the Literature.
- Author
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Athanasopoulou, Diamanto, Lionaki, Sophia, Skalioti, Chrysanthi, Liapis, George, Vlachoyiannopoulos, Panayiotis, and Boletis, Ioannis
- Subjects
- *
LITERATURE reviews , *DRUG side effects , *NEPHROTIC syndrome , *ENGLISH literature , *KIDNEY injuries - Abstract
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]
- Published
- 2023
- Full Text
- View/download PDF
33. Switching Pharmacological Treatment in Wilson Disease: Case Report and Recommendations.
- Author
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Leung, Marcia, Wu Lanzafame, Jaimie, and Medici, Valentina
- Subjects
Wilson disease ,penicillamine ,trientine ,zinc acetate - Abstract
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.
- Published
- 2020
34. Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria
- Author
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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
- Published
- 2021
35. Drug-Induced Pemphigus
- Author
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Kardaun, Sylvia H., de Sena Nogueira Maehara, Laura, and Horváth, Barbara, editor
- Published
- 2022
- Full Text
- View/download PDF
36. Wilson’s Disease
- Author
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Bergasa, Nora V. and Bergasa, Nora V., editor
- Published
- 2022
- Full Text
- View/download PDF
37. Wilson Disease Presenting as Opsoclonus-Myoclonus Syndrome
- Author
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Salles, Philippe A., Besa-Lehmann, Valentina, Pelayo-Varela, Carolina, Lozano-Iraguen, Prudencio, Fernandez, Hubert H., De la Cerda, Andrés, Tarsy, Daniel, Series Editor, and Frucht, Steven J., editor
- Published
- 2022
- Full Text
- View/download PDF
38. Studying the Effects of Ethylenediaminetetraacetic Acid and Penicillamine on the Toxicity of TiO2 Nanoparticles in Nile Tilapia (Oreochromis Niloticus).
- Author
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Waleed, Ibrahem, Dawood, Farah A., Sharif, Salah Farhan A., Taki, Anmar Ghanim, Tariq, Hayder, and Abdulwahid, Alzahraa S.
- Subjects
- *
ETHYLENEDIAMINETETRAACETIC acid , *METAL nanoparticles , *PENICILLAMINE , *TITANIUM oxides , *NILE tilapia - Abstract
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]
- Published
- 2023
- Full Text
- View/download PDF
39. Rare Initial Presentation of Wilson's Disease as Acute Encephalopathy with Recurrent Seizure.
- Author
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Leelamani, Vinitha and George, Jacob
- Subjects
- *
HEPATOLENTICULAR degeneration diagnosis , *ENCEPHALITIS , *METHYLPREDNISOLONE , *LIVER function tests , *STATUS epilepticus , *ACYCLOVIR , *ELECTROENCEPHALOGRAPHY , *BLOOD proteins , *STEROIDS , *ORAL drug administration , *SLIT lamp microscopy , *ZINC sulfate , *DIFFERENTIAL diagnosis , *MAGNETIC resonance imaging , *HANDWRITING , *PENICILLAMINE , *ACADEMIC achievement , *DRUG therapy , *HEPATOLENTICULAR degeneration , *SEIZURES (Medicine) , *GLOBULINS , *COPPER , *RARE diseases , *VALPROIC acid - Abstract
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]
- Published
- 2023
- Full Text
- View/download PDF
40. Analysis of risk factors for neurological symptoms in patients with purely hepatic Wilson's disease at diagnosis.
- Author
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Diao, Sheng-Peng, Zhuang, Yang-Sha, Huang, Ye-Qing, Zhou, Zhi-Hua, Liu, Ai-Qun, and Hong, Ming-Fan
- Subjects
- *
HEPATOLENTICULAR degeneration , *FACTOR analysis , *RISK assessment , *DIAGNOSIS , *ALANINE aminotransferase - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
41. Penicillamine‐induced degenerative dermopathy in a patient with Wilson's disease.
- Author
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Chen, Yuting, Qiu, Yangyang, Chen, Meiqing, Jiang, Ying, Qiu, Xiaoyan, and Gao, Lujuan
- Subjects
- *
HEPATOLENTICULAR degeneration , *PENICILLAMINE , *RHEUMATOID arthritis , *HEAVY metals - Abstract
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]
- Published
- 2023
- Full Text
- View/download PDF
42. Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease
- Author
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Mordaunt, Charles E, Shibata, Noreene M, Kieffer, Dorothy A, Członkowska, Anna, Litwin, Tomasz, Weiss, Karl Heinz, Gotthardt, Daniel N, Olson, Kristin, Wei, Dongguang, Cooper, Stewart, Wan, Yu-Jui Yvonne, Ali, Mohamed R, LaSalle, Janine M, and Medici, Valentina
- Subjects
Biological Sciences ,Genetics ,Chronic Liver Disease and Cirrhosis ,Neurodegenerative ,Brain Disorders ,Human Genome ,Liver Disease ,Nutrition ,Neurosciences ,Digestive Diseases ,Rare Diseases ,Aetiology ,2.1 Biological and endogenous factors ,Animals ,Chelating Agents ,Choline ,Copper ,Copper-Transporting ATPases ,DNA Methylation ,Disease Models ,Animal ,Epigenesis ,Genetic ,Female ,Gene Expression Regulation ,Hepatolenticular Degeneration ,Humans ,Liver ,Maternal Inheritance ,Mice ,Oxidative Stress ,Penicillamine ,Peroxiredoxins ,Pregnancy ,Signal Transduction ,Thioredoxins ,Whole Genome Sequencing ,Copper-transporting ATPases ,Medical and Health Sciences ,Genetics & Heredity - Abstract
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.
- Published
- 2018
43. REGIONAL STATE AUTONOMOUS HEALTH INSTITUTION SMOLENSK REGIONAL MEDICAL CENTER invites tenders for Electronic Auction for the Right to Conclude an Agreement for the Supply of Medicinal Product(S) (Penicillamine, Film-Coated Tablets, 250 Mg No. 100)
- Subjects
Medical centers ,Auctions ,Penicillamine ,News, opinion and commentary - Abstract
REGIONAL STATE AUTONOMOUS HEALTH INSTITUTION SMOLENSK REGIONAL MEDICAL CENTER, Russian Federation has invited tenders for Electronic Auction for the Right to Conclude an Agreement for the Supply of Medicinal Product(S) [...]
- Published
- 2024
44. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Order 1750, Igss Code 1704, Penicillamine, Tablet or Capsule 250 Mg
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Order 1750, Igss Code 1704, Penicillamine, Tablet or Capsule 250 Mg. Tender Notice No: 22741003 Deadline: April 19, 2024 [...]
- Published
- 2024
45. GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS- invites tenders for Siaf 71/2024, Code 1704 - Penicillamine Tablet or Capsule 250 Mg
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
GUATEMALAN INSTITUTE OF SOCIAL SECURITY -IGSS-, Guatemala has invited tenders for Siaf 71/2024, Code 1704 - Penicillamine Tablet or Capsule 250 Mg. Tender Notice No: 22644725 Deadline: April 1, 2024 [...]
- Published
- 2024
46. MINISTRY OF HEALTH invites tenders for Penicillamine Caps 250 Mg
- Subjects
Penicillamine ,News, opinion and commentary - Abstract
MINISTRY OF HEALTH, Jordan has invited tenders for Penicillamine Caps 250 Mg. Tender Notice No: 2024000135-04 Deadline: March 4, 2024 Copyright © 2011-2022 pivotalsources.com. All rights reserved. Provided by SyndiGate [...]
- Published
- 2024
47. Wilson's Disease with Late Hepatic Involvement.
- Author
-
MUNDRA, MAHAVIR RAGHUNATH, ANKHEDE, MANJU CHAND, JAIN, PRADIP, and ANJANKAR, ASHISH
- Subjects
- *
HEPATOLENTICULAR degeneration , *SLIT lamp microscopy , *MAGNETIC resonance imaging , *COPPER , *LIVER function tests , *TREMOR , *ESSENTIAL tremor - Abstract
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]
- Published
- 2023
- Full Text
- View/download PDF
48. Wilson's Disease: A Review.
- Author
-
Vidyani, Amie, Retnaningtyas, Fauziah Diayu, Kholili, Ulfa, Sugihartono, Titong, Nusi, Iswan Abbas, Setiawan, Poernomo Boedi, Maimunah, Ummi, Widodo, Budi, Miftahussurur, Husin Thamrin Muhammad, and Purbayu, Herry
- Subjects
THERAPEUTIC use of zinc ,HEPATOLENTICULAR degeneration diagnosis ,LIVER function tests ,BIOCHEMISTRY ,MAGNETIC resonance imaging ,PENICILLAMINE ,AMINES ,TREATMENT effectiveness ,HEPATOLENTICULAR degeneration ,COPPER ,COMPUTED tomography ,LIVER transplantation ,BLOOD cell count ,URINALYSIS ,ADVERSE health care events ,NEUROLOGIC examination ,SYMPTOMS - Published
- 2023
- Full Text
- View/download PDF
49. Use of D-penicillamine and Selenium to Reduce Cisplatin-Induced Side Effects.
- Author
-
Al-Sowayan, Noorah Saleh
- Subjects
CISPLATIN ,CANCER chemotherapy ,ANTINEOPLASTIC agents ,CANCER treatment ,PENICILLAMINE ,SELENIUM - Abstract
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.)
- Published
- 2023
50. Primary copper-associated chronic hepatitis without copper metabolism domain containing 1 mutation in a Dalmatian: a case report.
- Author
-
Sumin Yun, Dohee Lee, Jimin Oh, Yeon Chae, Taesik Yun, Yoonhoi Koo, Mhan-Pyo Yang, Byeong-Teck Kang, and Hakhyun Kim
- Subjects
- *
CHRONIC active hepatitis , *COPPER , *LIVER enzymes , *BLOOD testing , *HISTOPATHOLOGY - Abstract
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]
- Published
- 2022
- Full Text
- View/download PDF
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