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Zhonghua Gan Zang Bing Za Zhi =... Jan 2021Wilson Disease is kind of an autosomal recessive genetic disease. Early diagnosis and timely treatment are very important for prognosis. This article reviews the... (Review)
Review
Wilson Disease is kind of an autosomal recessive genetic disease. Early diagnosis and timely treatment are very important for prognosis. This article reviews the treatment of Wilson Disease, focusing on penicillamine, sodium dimercaptopropane sulfonate, ammonium tetrathiomolybdate and zinc, liver transplantation and gene therapy. At the same time, the problems of medication adherence and follow-up evaluation in patients with Wilson Disease are also discussed.
Topics: Genetic Therapy; Hepatolenticular Degeneration; Humans; Liver Transplantation; Penicillamine; Zinc
PubMed: 33541028
DOI: 10.3760/cma.j.cn501113-20201018-00559 -
Reumatismo Oct 2018The presence of muscular symptoms is common in rheumatological clinical practice, but often the differential diagnosis between muscular involvement in connective tissue... (Review)
Review
The presence of muscular symptoms is common in rheumatological clinical practice, but often the differential diagnosis between muscular involvement in connective tissue diseases, vasculitis and drug-induced myopathy may be difficult. In addition to clinical assessment, laboratory analysis and instrumental examinations, muscle biopsy may help to clarify the diagnosis in patients with muscular involvement. The purpose of this review is to provide a critical analysis of the current medical literature on muscular histopathology, to help clinicians to identify when to perform muscular biopsy and to provide a practical guide to a better understanding of the pathology report. Moreover, we provide an overview of the muscular involvement and the most common histopathological findings in rheumatic diseases.
Topics: Adrenal Cortex Hormones; Biopsy; Connective Tissue Diseases; Cyclosporine; Diagnosis, Differential; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Immunoenzyme Techniques; Immunohistochemistry; Muscle, Skeletal; Muscular Diseases; Penicillamine; Rheumatic Diseases; Staining and Labeling; Vasculitis
PubMed: 30282439
DOI: 10.4081/reumatismo.2018.1051 -
European Review For Medical and... Nov 2017Dry mouth (xerostomia), is a fairly common, well-researched condition, which is an indirect cause of oral malodour. This systematic literature review looked into another... (Review)
Review
Dry mouth (xerostomia), is a fairly common, well-researched condition, which is an indirect cause of oral malodour. This systematic literature review looked into another cause of bad breath: adverse drug reactions in the orofacial region causing halitosis. The study focused on extraoral halitosis, and its subdivisions, particularly blood borne halitosis in which malodourous compounds in the blood stream are carried to the lungs, passively diffused across the pulmonary alveolar membrane to enter the breath. An electronic search was conducted in various databases. Inclusion criteria were: editorials, case control studies, retrospective studies and randomized double-blind studies published in English between 1983 and March 2017. The search identified a total of 23 articles. According to these, drug-related halitosis may be caused by nine medications. Dimethyl sulfoxide, cysteamine and suplatast tosilate are metabolised to dimethyl sulfide, a malodourous compound that is stable in blood and is transported into the breath. Disulfiram is reduced to carbon disulfide, also a stable compound in blood. Nitric oxide reacts with foul-smelling volatile organosulfur compounds. The degradation of penicillamine raises the pH level, favouring the growth of gram-negative bacteria in the oral cavity producing halitosis. Chloral hydrate, phenothiazine, and paraldehyde could not be related to halitosis. The analysis showed that halitosis can be caused by medication but does not correlate to any specific disease or specific form of drug therapy. The pharmacological compounds identified as causes of halitosis are administered to treat a broad spectrum of diseases, or in therapeutic regimes.
Topics: Gram-Negative Bacteria; Halitosis; Humans; Hydrogen Sulfide; Penicillamine; Smell; Sulfhydryl Compounds; Sulfides
PubMed: 29164566
DOI: No ID Found -
Scandinavian Journal of Gastroenterology Jan 2020Gastrointestinal symptoms are common in patients with Wilson disease (WD) and may be related to the disease itself or to adverse drug reactions (ADRs). To investigate...
Gastrointestinal symptoms are common in patients with Wilson disease (WD) and may be related to the disease itself or to adverse drug reactions (ADRs). To investigate gastroscopy findings in patients with WD and to analyze the risk of gastropathy in the context of different manifestations and treatments of WD as well as infection status. This cross-sectional study included patients diagnosed or monitored for WD between 2007 and 2017. All enrolled patients were examined with gastroscopy and checked for infection with a urease test. Based on predominant manifestations, WD was classified as pre-symptomatic, hepatic (only liver symptoms) or neurological. Patients were divided into three treatment groups: untreated, treated with d-penicillamine (DPA) or zinc sulfate therapy. Of 115 patients, 58 were male and the median age was 30 years. Gastropathy was observed in 65.2% of all patients. Factors that increased the risk of gastropathy were zinc sulfate (odds ratio [OR] = 3.01; 95% confidence interval [CI]: 1.12-8.09, = .03), infection (OR = 2.96; 95%CI: 1.34-6.56, = .01) and neurological manifestations (OR = 2.55; 95%CI: 1.16-5.60, = .02). In total, 9.6% of patients had gastric or duodenal ulcers and 29.6% had esophageal varices but no difference was seen by treatment status. In multivariate analysis, zinc sulfate remained associated with higher risk of gastropathy compared with no treatment (OR = 4.57; 95%CI: 1.21-17.19; = .03) and DPA (OR = 6.28; 95%CI: 1.43-27.56; = .01). Our results show that gastropathy in WD may be influenced by the treatment used.KeypointsIn a retrospective study of 115 patients with Wilson's disease, gastric injury was frequent.Patients receiving zinc sulfate had increased gastropathy risk compared with those receiving no treatment or d-penicillamine.
Topics: Adult; Cross-Sectional Studies; Esophageal and Gastric Varices; Female; Helicobacter Infections; Hepatolenticular Degeneration; Humans; Logistic Models; Male; Middle Aged; Penicillamine; Peptic Ulcer; Poland; Retrospective Studies; Risk; Young Adult; Zinc Sulfate
PubMed: 31865812
DOI: 10.1080/00365521.2019.1703035 -
Drug Discovery Today Jul 2023This report discusses potential therapies for treating human coronaviruses (HCoVs) and their economic impact. Specifically, we explore therapeutics that can support the... (Review)
Review
This report discusses potential therapies for treating human coronaviruses (HCoVs) and their economic impact. Specifically, we explore therapeutics that can support the body's immune response, including immunoglobulin (Ig)A, IgG and T-cell responses, to inhibit the viral replication cycle and improve respiratory function. We hypothesize that carbon quantum dots conjugated with S-nitroso-N-acetylpenicillamine (SNAP) could be a synergistic alternative cure for treating respiratory injuries caused by HCoV infections. To achieve this, we propose developing aerosol sprays containing SNAP moieties that release nitric oxide and are conjugated onto promising nanostructured materials. These sprays could combat HCoVs by inhibiting viral replication and improving respiratory function. Furthermore, they could potentially provide other benefits, such as providing novel possibilities for nasal vaccines in the future.
Topics: Humans; S-Nitroso-N-Acetylpenicillamine; Nitric Oxide; Virus Replication
PubMed: 37119964
DOI: 10.1016/j.drudis.2023.103601 -
Clinics in Dermatology 2018Eosinophilic fasciitis (EF) is an uncommon connective tissue disease characterized by abrupt onset of edema, followed by progressive induration of primarily the distal...
Eosinophilic fasciitis (EF) is an uncommon connective tissue disease characterized by abrupt onset of edema, followed by progressive induration of primarily the distal extremities. Patients may exhibit inflammatory arthritis, joint contractures, decreased mobility, and nerve entrapment. Almost half of patients with EF may have coexisting morphea plaques. Classic laboratory studies display peripheral eosinophilia, hypergammaglobulinemia, and elevated inflammatory markers. EF is included in the spectrum of scleroderma like disorders and may be difficult to distinguish from other sclerosing skin disorders. Full-thickness biopsy containing muscle and fascia is considered the gold standard for diagnosis and reveals sclerosis of the middeep dermis, subcutaneous fat, and thickening of the fascia. Magnetic resonance imaging (MRI) has been increasingly utilized to augment diagnostic capabilities. Ultimately, the diagnosis of EF relies upon the combination of characteristic clinical, laboratory, imaging, and histologic findings. Although some patients experience spontaneous remission, systemic corticosteroids (SCS) are the mainstay of treatment. Patients who fail to improve with SCS alone require the addition of a second immunosuppressive drug. Additionally, although data are limited, there is evidence to suggest that initial combination therapy with SCS and methotrexate (MTX) may be most beneficial.
Topics: Antimalarials; Antirheumatic Agents; Diagnosis, Differential; Eosinophilia; Fasciitis; Glucocorticoids; Hematologic Diseases; Humans; Hydroxychloroquine; Immunosuppressive Agents; Joint Diseases; Methotrexate; Neuromuscular Diseases; Penicillamine; Prednisone; Skin Diseases
PubMed: 30047432
DOI: 10.1016/j.clindermatol.2018.04.006 -
Rinsho Shinkeigaku = Clinical Neurology Sep 2019Wilson disease is an autosomal recessive disorder based on inborn error of copper metabolism. The copper accumulates in the liver, brain, cornea, kidney, and other... (Review)
Review
Wilson disease is an autosomal recessive disorder based on inborn error of copper metabolism. The copper accumulates in the liver, brain, cornea, kidney, and other organs. This disease should be considered any individual with liver abnormality except infant, any patient older than teenage with neurological (especially for extra pyramidal signs) or neuropsychiatric disorder with or without liver disease and sibling of Wilson disease patient. Typically, a combination of low serum ceruloplasmine levels and high levels of urinary copper contents is sufficient to establish a diagnosis. As other diagnostic tests, measurement of hepatic copper content and ATP7B gene analysis are available. The key strategy of treatment is to reduce the amount of copper in the liver and other tissues by administering both copper-chelating agents, such as D-penicillamine or Trientine, and/or zinc acetate. The author recommend zinc acetate monotherapy for mild to moderate hepatic disorder, Trientine mono therapy for mild to moderate neurologic disorder and combination therapy of Trientine and zinc acetate for sever hepatic or neurologic disorder.
Topics: Adolescent; Adult; Biomarkers; Ceruloplasmin; Chelating Agents; Child; Child, Preschool; Copper; Copper-Transporting ATPases; Diagnosis, Differential; Drug Therapy, Combination; Hepatolenticular Degeneration; Humans; Japan; Liver; Middle Aged; Mutation; Penicillamine; Severity of Illness Index; Trientine; Young Adult; Zinc Acetate
PubMed: 31474637
DOI: 10.5692/clinicalneurol.cn-001241 -
International Immunopharmacology Mar 2021Pemphigus encompasses a rare heterogeneous group of autoimmune blistering diseases characterized by cutaneous and/or mucosal blistering. Multiple factors, such as some...
Pemphigus encompasses a rare heterogeneous group of autoimmune blistering diseases characterized by cutaneous and/or mucosal blistering. Multiple factors, such as some specific types of drugs, have been found to be involved in the induction of pemphigus. Here, we have designed a systematic review by searching PubMed/Medline and Embase databases to find the drugs, involved in pemphigus induction and exacerbation (updated on 19 August 2019). From 1856 initially found articles, 134 studies (198 patients; 170 patients in the drug-induced patients and 28 in exacerbation group) have been included. Regarding drug-induced cases, the mean age was 57.19 ± 16.9-year-old (ranged 8-105), and patients had developed pemphigus within a mean of 154.27 days. Pemphigus vulgaris (38.9%), pemphigus foliaceus (33.5%), and paraneoplastic pemphigus (3.6%) were the most common subtypes. Furthermore, penicillamine (33.1%), captopril (7.7%), and bucillamine (6.5%) were the most reported drugs related to pemphigus induction; penicillamine was associated with the most persistent disease. Regardless of disease subtype, cutaneous, mucocutaneous, and mucosal involvements were reported in 68.6%, 30.1%, and 1.3% of patients, respectively. In total, the IgG deposition in the pathological studies, being positive for autoreactive antibodies in the serum against desmoglein 3 (Dsg3), and desmoglein 1 (Dsg1), were reported in 93%, 34.9%, and 72.7% of reported patients, respectively. Regarding the management of such patients, in 75% of healed cases, treatment (mainly transient systemic and topical corticosteroids and/or azathioprine) was needed besides stopping the probable pemphigus-inducing culprit drug, while drug cessation was enough to control the disease in 25%. As the outcomes, the lesions in 129 of 147 (87.8%) patients had been healed, while in 18 (12.2%), no healing was reported; fifteen out of 18 had died. In conclusion, some specific groups of treatments can induce pemphigus, including penicillamine, captopril, and bucillamine; despite the similar clinical and pathological manifestations to classical pemphigus, most of the cases are less severe and have a better prognosis.
Topics: Anti-Inflammatory Agents, Non-Steroidal; Antihypertensive Agents; Antirheumatic Agents; Captopril; Cysteine; Drug-Related Side Effects and Adverse Reactions; Humans; Pemphigus; Penicillamine
PubMed: 33418246
DOI: 10.1016/j.intimp.2020.107299 -
Annals of Indian Academy of Neurology 2022Most centers in developing countries prefer chelation therapy with D-penicillamine for the management of Wilson's disease (WD) because of its easy availability and...
BACKGROUND
Most centers in developing countries prefer chelation therapy with D-penicillamine for the management of Wilson's disease (WD) because of its easy availability and affordability. Neurological worsening following treatment with D-penicillamine is not uncommon. However, there is a paucity of Indian data on the incidence of neurological worsening in children and adolescents with WD following chelation therapy. Our study objectives were to identify the prevalence of neurological worsening in children and adolescents with WD following chelation with D-penicillamine therapy and to describe the management options and outcomes in these patients.
MATERIALS AND METHODS
In this retrospective chart review, children and adolescents with an established diagnosis of WD from 2010 to 2020 were identified from the hospital electronic database. Among these patients, data of children and adolescents with neurological worsening following D-penicillamine therapy were extracted and analyzed.
RESULTS
Neurological worsening was observed in 27/122 (22.1%) children and adolescents with WD on chelation therapy with D-penicillamine. Fifteen patients with neurological worsening following D-penicillamine therapy were managed with zinc monotherapy. Four patients were managed with a combination therapy of zinc and trientine. Five patients were treated with trientine monotherapy. Re-challenging with D-penicillamine at a lower dose followed by a slow dose escalation was attempted in three patients. Gradual clinical and functional status improvement was observed in 24 cases while one patient succumbed to pneumonia.
CONCLUSION
Children and adolescents with WD who had neurological worsening on D-penicillamine therapy may be managed with trientine. Zinc monotherapy with copper restricted diet was also found to be effective in non-affordable patients.
PubMed: 36211139
DOI: 10.4103/aian.aian_519_21 -
Frontiers in Immunology 2023The presence of antiphospholipid antibodies (aPLs) plays a pivotal role in the pathogenesis of antiphospholipid antibody syndrome (APS). This study aimed to examine the...
BACKGROUND
The presence of antiphospholipid antibodies (aPLs) plays a pivotal role in the pathogenesis of antiphospholipid antibody syndrome (APS). This study aimed to examine the diagnostic value of a set of non-criteria aPLs and their relevance with APS-related criteria and extra-criteria manifestations.
METHODS
From a prospectively constructed database, consecutive APS patients consisting of 114 primary APS (PAPS group), 54 with APS secondary to SLE (SAPS group), 9 seronegative APS (SNAPS), as well as 209 patients with systemic lupus erythematosus (SLE) and 88 healthy controls were included in this study. Levels of criteria aPLs, baseline information, and APS-related criteria and extra-criteria features were extracted from the database. Serum levels of non-criteria aPLs including aPC IgG/IgM, aPI IgG/IgM, aPE IgG/IgM/IgA, aPG IgG/IgM/IgA, anti-phosphatidic acid (aPA) IgG/IgM, aSM IgG/IgM, and aPS/PT IgG/IgM were analyzed with AESKULISA® ELISA Test Kits.
RESULTS
The addition of aPC IgG/M, aPI IgG/M, aPE IgG/M/A, aSM IgG/M, and aPA IgG/M to aCL or aβ2GPI IgG/M could significantly increase diagnostic sensitivity and accuracy. A significant difference between PAPS or SAPS and HC was presented in all non-criteria aPLs except for aSM IgM and aPG IgA. Eight out of nine SNAPS patients were positive for at least 1 aPL. Pregnancy morbidity was associated with aSM IgM (r = 0.22) and aSM IgG (r = 0.15). Pre-eclampsia or premature birth was associated with aSM IgG (r = 0.16), aPI IgG (r = 0.22), aPC IgG (r = 0.16), and aPG IgG (r = 0.18). Stroke was associated with aPI IgG (r = 0.2). The clinical association was also observed in DVT with aPS/PT IgG (r = 0.17). Valve lesion was positively associated with aSM IgM (Fisher test p = 0.039), APS nephropathy was associated with aPC IgG (OR 3.797), and livedo reticularis was associated with aPE IgM (OR 15.391).
CONCLUSION
Additional detection of non-criteria aPLs including aPC IgG/M, aPE IgG/M/A, aPI IgG/M, aSM IgG/M, and aPA IgG/M could assist in APS diagnosis. The positivity of certain aPLs was statistically associated with both criteria and extra-criteria APS clinical manifestations.
Topics: Female; Humans; Pregnancy; Antibodies, Antiphospholipid; Antiphospholipid Syndrome; East Asian People; Immunoglobulin A; Immunoglobulin G; Immunoglobulin M; Lupus Erythematosus, Systemic; Penicillamine; Prevalence
PubMed: 37122726
DOI: 10.3389/fimmu.2023.1107510