28,812 results match your criteria Wilson Disease

Assessment of post-dilatation strategies for optimal stent expansion in calcified coronary lesions: Ex vivo analysis with optical coherence tomography.

Cardiovasc Revasc Med 2022 May 6. Epub 2022 May 6.

Interventional Cardiology Center, Heart and Vascular Institute, University of South Florida, Tampa, FL 33606, USA.

Introduction: Interventional cardiologists make adjustments in the presence of coronary calcifications known to limit stent expansion, but proper balloon sizing, plaque-modification approaches, and high-pressure regimens are not well established. Intravascular optical coherence tomography (IVOCT) provides high-resolution images of coronary tissues, including detailed imaging of calcifications, and accurate measurements of stent deployment, providing a means for detailed study of stent deployment.

Objective: Evaluate stent expansion in an ex vivo model of calcified coronary arteries as a function of balloon size and high-pressure, post-dilatation strategies. Read More

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Ventricular systolic dysfunction in dogs diagnosed with hypoadrenocorticism.

J Vet Cardiol 2022 Apr 23;41:231-235. Epub 2022 Apr 23.

Department of Small Animal Clinical Sciences, College of Veterinary Medicine, Michigan State University, 736 Wilson Road, East Lansing, Michigan, 48824, USA. Electronic address:

In human patients with hypoadrenocorticism, a secondary dilated cardiomyopathy is noted that has been reported to resolve with replacement steroid therapy. A similar secondary dilated cardiomyopathy in dogs with hypoadrenocorticism has not been previously described. We present three dogs concurrently diagnosed with hypoadrenocorticism and ventricular dilation with systolic dysfunction. Read More

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Patient- And Provider-Level Predictors of Survival Among Patients With Metastatic Renal Cell Carcinoma Initiating Oral Anticancer Agents.

Clin Genitourin Cancer 2022 Apr 25. Epub 2022 Apr 25.

Department of Health Policy and Management, Gillings School of Global Public Health, University of North Carolina at Chapel Hill (UNC-CH), Chapel Hill, NC; Lineberger Comprehensive Cancer Center (LCCC), UNC-CH, Chapel Hill, NC, USA; Duke Cancer Institute (DCI), DUSM, Durham, NC, USA.

Purpose: In an era of rapid expansion of FDA approvals for oral anticancer agents (OAAs), it is important to understand the factors associated with survival among real-world populations, which include groups not well-represented in pivotal clinical trials of OAAs, such as the elderly, racial minorities, and medically complex patients. Our objective was to evaluate patient- and provider-level characteristics' associations with mortality among a multi-payer cohort of metastatic renal cell carcinoma (mRCC) patients who initiated OAAs.

Methods: This retrospective cohort study was conducted using data from the North Carolina state cancer registry linked to multi-payer claims data for the years 2004 to 2015. Read More

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Characteristics of Nursing Home Residents and Healthcare Personnel with Repeat Positive SARS-CoV-2 Tests ≥ 90 Days After Initial Infection: 4 U.S. Jurisdictions, July 2020 - March 2021.

Infect Control Hosp Epidemiol 2022 May 20:1-18. Epub 2022 May 20.

Division of Healthcare Quality Promotion, Centers for Disease Control and Prevention (CDC), Atlanta, GA.

One of six nursing home residents and staff with positive SARS-CoV-2 tests ≥90 days after initial infection had specimen cycle thresholds (Ct) <30. Individuals with specimen Ct<30 were more likely to report symptoms but were not different from individuals with high Ct value specimens by other clinical and testing data. Read More

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Acute lymphoblastic leukemia displays a distinct highly methylated genome.

Nat Cancer 2022 May 19. Epub 2022 May 19.

Department of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin, Germany.

DNA methylation is tightly regulated during development and is stably maintained in healthy cells. In contrast, cancer cells are commonly characterized by a global loss of DNA methylation co-occurring with CpG island hypermethylation. In acute lymphoblastic leukemia (ALL), the commonest childhood cancer, perturbations of CpG methylation have been reported to be associated with genetic disease subtype and outcome, but data from large cohorts at a genome-wide scale are lacking. Read More

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Disruption of endosomal sorting in Schwann cells leads to defective myelination and endosomal abnormalities observed in Charcot-Marie-Tooth disease.

J Neurosci 2022 May 18. Epub 2022 May 18.

Department of Neurobiology, Evelyn F. McKnight Brain Institute, Civitan International Research Center, University of Alabama at Birmingham, Birmingham, Alabama, 35294, United States of America.

Endosomal sorting plays a fundamental role in directing neural development. By altering the temporal and spatial distribution of membrane receptors, endosomes regulate signaling pathways that control the differentiation and function of neural cells. Several genes linked to inherited demyelinating peripheral neuropathies, known as Charcot-Marie-Tooth disease (CMT), encode proteins that directly interact with components of the endosomal sorting complex required for transport (ESCRT). Read More

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Health-related quality of life in patients treated with pembrolizumab for microsatellite instability-high/mismatch repair-deficient advanced solid tumours: Results from the KEYNOTE-158 study.

Eur J Cancer 2022 May 16;169:188-197. Epub 2022 May 16.

Gustave Roussy, INSERM U1015 and CIC1418, Université Paris Saclay, Villejuif, France. Electronic address:

Background: In the KEYNOTE-158 study (NCT02628067), pembrolizumab showed a high objective response rate and durable clinical benefit for patients with previously treated, unresectable/metastatic microsatellite instability-high (MSI-H)/mismatch repair‒deficient (dMMR) non-colorectal solid tumours. We present health-related quality of life (HRQoL) results from the MSI-H/dMMR population (cohort K).

Patients And Methods: Eligible patients had previously treated MSI-H/dMMR advanced non-colorectal solid tumours, measurable disease per RECIST v1. Read More

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SARS-CoV-2 host-shutoff impacts innate NK cell functions, but antibody-dependent NK activity is strongly activated through non-spike antibodies.

Elife 2022 May 19;11. Epub 2022 May 19.

Division of Infection and Immunity, Cardiff University, Cardiff, United Kingdom.

The outcome of infection is dependent on the ability of viruses to manipulate the infected cell to evade immunity, and the ability of the immune response to overcome this evasion. Understanding this process is key to understanding pathogenesis, genetic risk factors, and both natural and vaccine-induced immunity. SARS-CoV-2 antagonises the innate interferon response, but whether it manipulates innate cellular immunity is unclear. Read More

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Wilson Disease: Update on Pathophysiology and Treatment.

Front Cell Dev Biol 2022 2;10:871877. Epub 2022 May 2.

Department of Physiology, Johns Hopkins Medical Institutes, Baltimore, MD, United States.

Wilson disease (WD) is a potentially fatal genetic disorder with a broad spectrum of phenotypic presentations. Inactivation of the copper (Cu) transporter ATP7B and Cu overload in tissues, especially in the liver, are established causes of WD. However, neither specific ATP7B mutations nor hepatic Cu levels, alone, explain the diverse clinical presentations of WD. Read More

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Clade-specific monitoring of airborne spp. sporangia using mitochondrial DNA markers for disease management of cucurbit downy mildew.

Phytopathology 2022 May 18. Epub 2022 May 18.

Michigan State University, Department of Plant Pathology, 107 CIPS, East Lansing, Michigan, United States, 48824-1311.

Management of cucurbit downy mildew (CDM) caused by , relies on an intensive fungicide program. In Michigan, CDM occurs annually due to an influx of airborne sporangia; timely alerts of airborne inoculum can assist growers in assessing the need to initiate fungicide sprays. This research aimed to improve the specific detection of airborne sporangia by adapting qPCR-based assays to distinguish among clade I and II and in spore trap samples from commercial production sites and research plots. Read More

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Hispanic ethnicity and mortality among critically ill patients with COVID-19.

PLoS One 2022 18;17(5):e0268022. Epub 2022 May 18.

Department of Medicine, Division of Nephrology, University of Illinois at Chicago, Chicago, IL, United States of America.

Background: Hispanic persons living in the United States (U.S.) are at higher risk of infection and death from coronavirus disease 2019 (COVID-19) compared with non-Hispanic persons. Read More

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Utility of Biomarkers for Sepsis-Associated Acute Kidney Injury Staging.

JAMA Netw Open 2022 May 2;5(5):e2212709. Epub 2022 May 2.

Center for Critical Care Nephrology, Department of Critical Care Medicine, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania.

Importance: The 23rd Acute Disease Quality Initiative (ADQI-23) consensus conference proposed a framework to integrate biomarkers into the staging of acute kidney injury (AKI). It is unknown whether tissue inhibitor of metalloproteinases 2 (TIMP-2) and insulinlike growth factor binding protein 7 (IGFBP7) could be used for staging.

Objective: To test whether higher levels of urinary [TIMP-2] × [IGFBP7] are associated with lower survival among patients with the same functional stage of AKI. Read More

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Testing delay in an environment of low COVID-19 prevalence: A qualitative study of testing behaviour amongst symptomatic South Australians.

SSM Qual Res Health 2022 May 13:100099. Epub 2022 May 13.

College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, 5042, Australia.

Introduction: South Australia has to date (October 2021) been highly successful in maintaining an aggressive suppression strategy for the management of the COVID-19 pandemic. However, continued success of this strategy is dependent on ongoing testing by people with symptoms of COVID-19 to identify, trace and quarantine emergent cases as soon as possible. This study sought to explore community members' decisions about having COVID-19 testing in an environment of low prevalence, specifically exploring their decision-making related to symptoms. Read More

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How Whole Slide Imaging and Machine Learning Can Partner with Renal Pathology.

Kidney360 2022 Mar 11;3(3):413-415. Epub 2022 Feb 11.

Division of Anatomic and Molecular Pathology, Department of Pathology and Immunology, Washington University in St. Louis, St. Louis, Missouri.

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Feeding the Kidney Researcher Pipeline through R25-NIDDK Funded Summer Undergraduate Research Fellowships: A Student Perspective.

Kidney360 2022 Mar 22;3(3):546-549. Epub 2021 Oct 22.

Nephrology and Hypertension, Mayo Clinic College of Medicine & Science, Rochester, Minnesota.

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βIV-Spectrin Autoantibodies in 2 Individuals With Neuropathy of Possible Paraneoplastic Origin: A Case Series.

Neurol Neuroimmunol Neuroinflamm 2022 Jul 17;9(4). Epub 2022 May 17.

From the Weill Institute for Neurosciences (C.M.B., T.T.N., B.D.A., M.R.W., S.J. Pleasure), Department of Psychiatry and Behavioral Sciences (C.M.B., T.T.N.), Department of Neurology (B.D.A., M.R.W., S.J. Pleasure), UCSF School of Medicine (A.F.K.), University of California, San Francisco; Department of Neuroscience (L.H.T., M.N.R.), Baylor College of Medicine, Houston, TX; Department of Neurology (M.S.), University of California, Irvine; Chan Zuckerberg Biohub (J.L.D.), San Francisco, CA; Department of Biochemistry and Biophysics (J.L.D.), University of California, San Francisco; Department of Laboratory Medicine and Pathology (S.J. Pittock, D.D.), Department of Neurology (S.J. Pittock, D.D.), andCenter MS and Autoimmune Neurology (S.J. Pittock, D.D.), Mayo Clinic, Rochester, MN.

Objective: To identify the autoantigen in 2 individuals with possible seronegative paraneoplastic neuropathy.

Methods: Serum and CSF were screened by tissue-based assay and panned for candidate autoantibodies by phage display immunoprecipitation sequencing (PhIP-Seq). The candidate antigen was validated by immunostaining knockout tissue and HEK 293T cell-based assay. Read More

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A Novel High-Throughput Screening Strategy for Targeting Alpha-Synuclein and Other Long-Lived Proteins.

SLAS Discov 2022 May 14. Epub 2022 May 14.

Neuroscience Thematic Research Center, Bristol Myers Squibb, Cambridge, MA. Electronic address:

Small-molecule high-throughput screening (HTS) campaigns have frequently been used to identify lead molecules that can alter expression of disease-relevant proteins in cell-based assays. However, most cell-based HTS assays require short compound exposure periods to avoid toxicity and ensure that compounds are stable in media for the duration of the exposure. This limits the ability of HTS assays to detect inhibitors of the synthesis of target proteins with long half-lives, which can often exceed the exposure times utilized in most HTS campaigns. Read More

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Am J Med 2022 May 14. Epub 2022 May 14.

Wellcome-MRC Institute of Metabolic Science, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Addenbrooke's Hospital, Cambridge, UK.

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Reaching males and young adults in a pharmacy-based HIV self-testing strategy: Results from an acceptability study in Mozambique.

AIDS Res Hum Retroviruses 2022 May 17. Epub 2022 May 17.

Vanderbilt University Medical Center (VUMC), Department of Medicine, Division of Infectious Diseases , 1161 21st Avenue South, A-2200 Medical Center North (MCN), Nashville , Tennessee, United States, 37232.

Introduction HIV self-testing (HIVST) is a WHO recommended strategy to increase testing, especially among key populations, men, and young adults. Between May - December 2019, a pilot was implemented in Zambézia province, Mozambique, allowing clients to purchase HIV self-tests in 14 public/private pharmacies. The study assessed the strategy's acceptability and uptake. Read More

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CTH exacerbates Helicobacter pylori immunopathogenesis by promoting macrophage metabolic remodeling and activation.

JCI Insight 2022 May 17. Epub 2022 May 17.

Department of Medicine, Vanderbilt University Medical Center, Nashville, United States of America.

Macrophages play a crucial role in the inflammatory response to the human stomach pathogen Helicobacter pylori, which infects half of the world's population and causes gastric cancer. Recent studies have highlighted the importance of macrophage immunometabolism in their activation state and function. We have demonstrated that the cysteine-producing enzyme, cystathionine g-lyase (CTH), is upregulated in humans and mice with H. Read More

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Rare co-occurrence of multiple sclerosis and Wilson's disease - case report.

BMC Neurol 2022 May 16;22(1):178. Epub 2022 May 16.

Department of Neurology, University of Szeged, Faculty of Medicine, Szeged, Hungary.

Background: Wilson's disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms. Multiple sclerosis (MS) is an immune-mediated demyelinating disease affecting the central nervous system (CNS). The co-occurrence of these two, although not unheard of in literature, is still considered to be very rare and can give rise to diagnostic difficulties. Read More

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Advanced basal cell carcinoma: What dermatologists need to know about treatment.

J Am Acad Dermatol 2022 06;86(6S):S14-S24

St. Luke's University Health Network, Easton.

The treatment of advanced basal cell carcinoma (BCC) often requires therapies beyond local surgical excision or radiation due to the invasiveness of the tumor. Historically, cytotoxic chemotherapy was used to treat advanced BCC, but with limited data, no standard regimens were established. The discovery of cyclopamine, a natural inhibitor in the Hedgehog pathway, led to the development of the 2 currently approved Hedgehog inhibitors, vismodegib and sonidegib. Read More

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Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.

Klin Lab Diagn 2022 Apr;67(4):250-256

Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Science.

The study aimed to search for mutations in the ATP7B gene using massively parallel sequencing in patients with Wilson disease in the Tomsk region. For 42 patients with suspected Wilson's disease (aged from 1 to 33 years) was performed molecular genetic analysis. Enrichment of the interest genome regions was carried out by the long-range PCR. Read More

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Correction of a chronic pulmonary disease through lentiviral vector-mediated protein expression.

Mol Ther Methods Clin Dev 2022 Jun 14;25:382-391. Epub 2022 Apr 14.

National Heart and Lung Institute, Gene Therapy Group, Imperial College London, Faculty of Medicine, Manresa Road, London SW3 6LR, UK.

We developed a novel lentiviral vector, pseudotyped with the F and HN proteins from Sendai virus (rSIV.F/HN), that produces long-lasting, high-efficiency transduction of the respiratory epithelium. Here we addressed whether this platform technology can secrete sufficient levels of a therapeutic protein into the lungs to ameliorate a fatal pulmonary disease as an example of its translational capability. Read More

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Case Report: The First Reported Concurrence of Wilson Disease and Bilateral Retinitis Pigmentosa.

Front Med (Lausanne) 2022 28;9:877752. Epub 2022 Apr 28.

Eye Center of the 2nd Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Background: Wilson disease (WD) and retinitis pigmentosa (RP) are common genetic disorders in clinical practice, however, the concurrence of WD and RP has never been reported before. WD occurs due to mutations that cause copper metabolic abnormalities; in turn, change in copper metabolism has been suggested to be related with RP. Here, we report the first case of concurrent WD and bilateral RP, and investigate possible pathogenesis to illuminate whether the two genetic disorders are causality or coincidence. Read More

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A first-in-human Phase I dose-escalation trial of the novel therapeutic peptide, ALM201, demonstrates a favourable safety profile in unselected patients with ovarian cancer and other advanced solid tumours.

Br J Cancer 2022 May 14. Epub 2022 May 14.

Patrick G. Johnston Centre for Cancer Research, Queen's University Belfast, Belfast, UK.

Background: We aimed to assess the safety, tolerability and pharmacokinetics of a novel anti-angiogenic peptide.

Methods: We used an open-label, multicentre, dose-escalation Phase I trial design in patients with solid tumours. ALM201 was administered subcutaneously once daily for 5 days every week in unselected patients with solid tumours. Read More

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Ductal Carcinoma in Situ: Molecular Changes Accompanying Disease Progression.

J Mammary Gland Biol Neoplasia 2022 May 14. Epub 2022 May 14.

Centre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Westmead, NSW, 2145, Australia.

Ductal carcinoma in situ (DCIS) is a non-obligate precursor of invasive ductal carcinoma (IDC), whereby if left untreated, approximately 12% of patients develop invasive disease. The current standard of care is surgical removal of the lesion, to prevent potential progression, and radiotherapy to reduce risk of recurrence. There is substantial overtreatment of DCIS patients, considering not all DCIS lesions progress to invasive disease. Read More

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Hyaluronic Acid 35 kDa Protects against a Hyperosmotic, Formula Feeding Model of Necrotizing Enterocolitis.

Nutrients 2022 Apr 24;14(9). Epub 2022 Apr 24.

Department of Pediatrics, Division of Neonatology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.

Necrotizing enterocolitis (NEC), an inflammatory disease of the intestine, is a common gastrointestinal emergency among preterm infants. Intestinal barrier dysfunction, hyperactivation of the premature immune system, and dysbiosis are thought to play major roles in the disease. Human milk (HM) is protective, but the mechanisms underpinning formula feeding as a risk factor in the development of NEC are incompletely understood. Read More

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How Do the Outcomes of Radiation-Associated Pelvic and Sacral Bone Sarcomas Compare to Primary Osteosarcomas following Surgical Resection?

Cancers (Basel) 2022 Apr 27;14(9). Epub 2022 Apr 27.

Division of Orthopaedic Surgery, Department of Surgery, University of Toronto Musculoskeletal Oncology Unit, Sinai Health System, Toronto, ON M5S 1A8, Canada.

Radiation-associated sarcoma of the pelvis and/or sacrum (RASB) is a rare but challenging disease process associated with a poor prognosis. We hypothesized that patients with RASB would have worse surgical and oncologic outcomes than patients diagnosed with primary pelvic or sacral bone sarcomas. This was a retrospective, multi-institution, comparative analysis. Read More

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Evaluation of the Indications for Sentinel Node Biopsy in Early-Stage Melanoma with the Advent of Adjuvant Systemic Therapy: An International, Multicenter Study.

Ann Surg Oncol 2022 May 13. Epub 2022 May 13.

H. Lee Moffitt Cancer Center, Tampa, Florida, USA.

Background: Patients presenting with early-stage melanoma (AJCC pT1b-pT2a) reportedly have a relatively low risk of a positive SNB (~5-10%). Those patients are usually found to have low-volume metastatic disease after SNB, typically reclassified to AJCC stage IIIA, with an excellent prognosis of ~90% 5-year survival. Currently, adjuvant systemic therapy is not routinely recommended for most patients with AJCC stage IIIA melanoma. Read More

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