421 results match your criteria indistinguishable idiopathic


LRRK2 at the Crossroad of Aging and Parkinson's Disease.

Genes (Basel) 2021 Mar 29;12(4). Epub 2021 Mar 29.

Department of Physiology, Kyung Hee University School of Medicine, Seoul 02447, Korea.

Parkinson's disease (PD) is a heterogeneous neurodegenerative disease characterized by the progressive loss of dopaminergic neurons in the substantia nigra pars compacta and the widespread occurrence of proteinaceous inclusions known as Lewy bodies and Lewy neurites. The etiology of PD is still far from clear, but aging has been considered as the highest risk factor influencing the clinical presentations and the progression of PD. Accumulating evidence suggests that aging and PD induce common changes in multiple cellular functions, including redox imbalance, mitochondria dysfunction, and impaired proteostasis. Read More

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Treatment Approaches for Atypical CIDP.

Front Neurol 2021 15;12:653734. Epub 2021 Mar 15.

Ellen & Martin Prosserman Centre for Neuromuscular Diseases, Toronto General Hospital, University Health Network, University of Toronto, Toronto, ON, Canada.

The variants of chronic inflammatory demyelinating polyneuropathy (CIDP) differ not just in their clinical, pathological and electrophysiological characteristics, but often in their indifferent response to conventional immunosuppressive agents which are effective in typical CIDP. High quality evidence is lacking as far as the management of these atypical variants is concerned. In this review, we summarize the treatment approaches to each of these CIDP variants based on existing data. Read More

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Paradoxical Psoriasis in Children Receiving Anti-TNFα Treatment for Inflammatory/autoimmune Disease.

Paediatr Drugs 2021 Mar 24;23(2):131-141. Epub 2021 Mar 24.

Pediatric Rheumatology, Seattle Children's Hospital, University of Washington, MA 7.110, 4800 Sand Point Way NE, Seattle, WA, 98105, USA.

Tumor necrosis factor alpha inhibitors (TNFi) are widely used in children with autoimmune and autoinflammatory conditions. Although TNFi are approved to treat psoriasis, they have also been shown to paradoxically induce psoriasiform lesions. In this review, we aim to focus on the clinical presentation and management of paradoxical psoriasis after exposure to TNFi in children with juvenile idiopathic arthritis (JIA), inflammatory bowel disease (IBD), or chronic nonbacterial osteomyelitis (CNO). Read More

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[Silica-induced scleroderma in miners in former uranium ore mining (Wismut AG)].

Hautarzt 2021 Mar 15. Epub 2021 Mar 15.

Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Leipzig, Philipp-Rosenthal-Str. 23, 04103, Leipzig, Deutschland.

As part of the reappraisal of the legacy of Wismut AG, 12 patients with silica-induced scleroderma among underground uranium ore mine workers (Wismut AG) under long-term exposure to silica fine dust, as well as radon and its daughter products, during the 1960s and 1970s are reported on. Silica-induced scleroderma is clinically, serologically and immunologically indistinguishable from idiopathic systemic sclerosis. In experimental studies, endothelial cells, monocytes and fibroblasts, as well as their synthesis rates and the release of cytokines and chemokines, were activated by silica fine dust in a way that is consistent with the pathophysiological processes in idiopathic systemic sclerosis. Read More

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LRRK2; a dynamic regulator of cellular trafficking.

Brain Res 2021 Mar 2;1761:147394. Epub 2021 Mar 2.

Laboratory of Neurogenetics and Neuroscience, Department of Neurology, University of Florida, Gainesville, FL, USA.

Parkinson's disease (PD) represents the second most common neurodegenerative disorder, characterized clinically by bradykinesia, resting tremor, rigidity and postural instability, and a variety of non-motor features. The etiology of PD is unknown, however genetic, environmental and inflammatory factors may influence disease onset and progression. Genetic variability in leucine-rich repeat kinase 2 confers significant genotypic and population-attributable risk for LRRK2-parkinsonism that is clinically indistinguishable from idiopathic PD. Read More

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Angioedema without wheals: a clinical update.

Authors:
Okan Gülbahar

Balkan Med J 2021 Mar;38(2):73-81

Division of Immunology-Allergy, Department of Internal Medicine, Ege University School of Medicine, İzmir, Turkey.

Angioedema without wheals (urticaria) represents a heterogeneous group of clinically indistinguishable diseases of hereditary or acquired etiology. Hereditary angioedema is a rare inherited condition leading to recurrent, sometimes life-threatening angioedema attacks in subcutaneous tissues and gastrointestinal and oropharyngeal mucosa dating back to childhood or adolescence. Most of these patients have mutations in the SERPING1 gene, causing either low C1 inhibitor production (hereditary angioedema with C1 inhibitor deficiency type I) or the production of dysfunctional C1 inhibitor (hereditary angioedema with C1 inhibitor deficiency type II). Read More

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The Significance of Subpleural Sparing in CT Chest: A State-of-the-Art Review.

Am J Med Sci 2021 04 9;361(4):427-435. Epub 2021 Jan 9.

Department of Pulmonary and Critical Care, Albany Medical Center, Albany, New York.

The subpleural sparing pattern is a common finding on computed tomography (CT) of the lungs. It comprises of pulmonary opacities sparing the lung peripheries, typically 1cm and less from the pleural surface. This finding has a variety of causes, including idiopathic, inflammatory, infectious, inhalational, cardiac, traumatic, and bleeding disorders. Read More

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Association of GBA Genotype With Motor and Functional Decline in Patients With Newly Diagnosed Parkinson Disease.

Neurology 2021 02 21;96(7):e1036-e1044. Epub 2020 Dec 21.

From The Norwegian Centre for Movement Disorders (J.M.-G., G.A.), Department of Research, Section of Biostatistics (I.D.), and Department of Neurology (G.A.), Stavanger University Hospital; Department of Chemistry, Bioscience and Environmental Engineering (J.M.-G., G.A.), University of Stavanger; Department of Neurology (O.-B.T.), Haukeland University Hospital, Bergen; Department of Clinical Medicine (O.-B.T.), University of Bergen, Norway; Institute of Applied Health Sciences (A.D.M., C.E.C.), University of Aberdeen, UK; and Department of Clinical Science, Neurosciences (L.F.), Umeå University, Sweden.

Objective: To establish the significance of glucocerebrosidase gene () carrier status on motor impairment in a large cohort of patients with incident Parkinson disease (PD).

Methods: Three European population-based studies followed 528 patients with PD from diagnosis. A total of 440 with genomic DNA from baseline were assessed for variants. Read More

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February 2021

Clinicopathologic Correlation of Preretinal Tissues in Myopic Traction Maculopathy.

Retina 2020 Nov 20. Epub 2020 Nov 20.

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA.

Purpose: To evaluate histopathologic features of preretinal tissues (PRTs) removed from eyes with myopic traction maculopathy (MTM).

Methods: We retrospectively studied PRT specimens from eyes with MTM removed during pars plana vitrectomy (PPV). A control group of 6 idiopathic epiretinal membranes (ERMs) was studied for comparison. Read More

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November 2020

Eradication of Swine Vesicular Disease in Italy.

Viruses 2020 11 7;12(11). Epub 2020 Nov 7.

Ministry of Health, General Directorate of Animal Health and Veterinary Medicinal Products, Viale Giorgio Ribotta, 5-00144 Roma, Italy.

Swine vesicular disease (SVD) is a contagious viral disease of pigs clinically indistinguishable from other vesicular diseases, such as foot and mouth disease, vesicular stomatitis, vesicular exanthema of swine, and idiopathic vesicular disease. In Italy, where SVD was first reported in 1966, an eradication program started in 1995. The program, updated in 2008, was based on regionalization, complete control on pig movements, improvement of pig farms biosecurity, appropriate cleansing and disinfection procedures of vehicles approved for pig transportation, and a testing program using both serological and virological assays. Read More

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November 2020

A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice.

Sci Rep 2020 10 27;10(1):17894. Epub 2020 Oct 27.

Laboratory of Gene Expression, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo, 113-8510, Japan.

Dilated cardiomyopathy (DCM) is a fatal heart disease characterized by left ventricular dilatation and cardiac dysfunction. Recent genetic studies on DCM have identified causative mutations in over 60 genes, including RBM20, which encodes a regulator of heart-specific splicing. DCM patients with RBM20 mutations have been reported to present with more severe cardiac phenotypes, including impaired cardiac function, atrial fibrillation (AF), and ventricular arrhythmias leading to sudden cardiac death, compared to those with mutations in the other genes. Read More

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October 2020

LRRK2 and α-Synuclein: Distinct or Synergistic Players in Parkinson's Disease?

Front Neurosci 2020 17;14:577. Epub 2020 Jun 17.

Krembil Research Institute, Toronto Western Hospital, University Health Network, Toronto, ON, Canada.

Parkinson's disease (PD) is the most common neurodegenerative movement disorder, characterized by prominent degeneration of dopaminergic neurons in the substantia nigra and aggregation of the protein α-synuclein within intraneuronal inclusions known as Lewy bodies. Ninety percent of PD cases are idiopathic while the remaining 10% are associated with gene mutations that affect cellular functions ranging from kinase activity to mitochondrial quality control, hinting at a multifactorial disease process. Mutations in and (the gene coding for α-synuclein) cause monogenic forms of autosomal dominant PD, and polymorphisms in either gene are also associated with increased risk of idiopathic PD. Read More

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[RyR2 mutation-linked arrhythmogenic diseases and its therapeutic strategies].

Nihon Yakurigaku Zasshi 2020 ;155(4):225-229

Department of Cellular and Molecular Pharmacology, Juntendo University, Graduate School of Medicine.

The type 2 ryanodine receptor (RyR2) is a sarcoplasmic reticulum Ca release channel that plays a central role in cardiac excitation-contraction coupling. Abnormal activity of the RyR2 is linked to abnormal Ca signaling in cardiac cells, which often results in cardiac arrhythmias. For example, amino acid mutations in RyR2 have been reported to cause various types of arrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT), idiopathic ventricular fibrillation, and left ventricular non-compaction. Read More

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November 2020

Comprehensive review on immunopathogenesis, diagnostic and epidemiology of Senecavirus A.

Virus Res 2020 09 30;286:198038. Epub 2020 May 30.

Department of Veterinary Diagnostic and Production Animal Medicine, College of Veterinary Medicine, Iowa State University, Ames, IA, USA. Electronic address:

Senecavirus A (SVA), formerly known as Seneca Valley virus, is a single-strand, positive-sense RNA virus in the family Picornaviridae. This virus has been associated with recent outbreaks of vesicular disease (SVA-VD) and epidemic transient neonatal losses (ETNL) in several swine-producing countries. The clinical manifestation of and lesion caused by SVA are indistinguishable from other vesicular diseases. Read More

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September 2020

Parkinsonism Versus Concomitant Parkinson's Disease in Fragile X-Associated Tremor/Ataxia Syndrome.

Mov Disord Clin Pract 2020 May 9;7(4):413-418. Epub 2020 Apr 9.

Medical Investigation of Neurodevelopmental Disorders Institute (MIND) University of California Davis, Sacramento California USA.

Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 () gene. FXTAS is characterized by the presence of ubiquitin-positive inclusions in neurons and astrocytes and by cerebellar tremor and ataxia. Parkinsonism has been reported in FXTAS, but most patients lack the characteristic rest tremor and severe rigidity seen in idiopathic Parkinson's disease (PD). Read More

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Lymphocytic variant of hypereosinophilic syndrome: A report of seven cases from a single institution.

Cytometry B Clin Cytom 2020 Mar 11. Epub 2020 Mar 11.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

Background: Lymphocytic variant of hypereosinophilic syndrome (L-HES) is a subtype of HES driven by cytokines produced by clonal T-cells. Due to the rarity of its occurrence and challenges in diagnosis, this subtype of HES is under recognized.

Methods And Results: We report seven patients with L-HES, diagnosed from a group of 136 patients who were referred to our institution for the work-up of hypereosinophilia. Read More

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LRRK2 in Parkinson disease: challenges of clinical trials.

Nat Rev Neurol 2020 02 24;16(2):97-107. Epub 2020 Jan 24.

Clinical Investigation Center CIC1436, Departments of Clinical Pharmacology and Neurosciences, NS-Park/FCRIN network and NeuroToul Center of Excellence for Neurodegeneration, INSERM, University Hospital of Toulouse and University of Toulouse, Toulouse, France.

One of the most common monogenic forms of Parkinson disease (PD) is caused by mutations in the LRRK2 gene that encodes leucine-rich repeat kinase 2 (LRRK2). LRRK2 mutations, and particularly the most common mutation Gly2019Ser, are observed in patients with autosomal dominant PD and in those with apparent sporadic PD, who are clinically indistinguishable from those with idiopathic PD. The discoveries that pathogenic mutations in the LRRK2 gene increase LRRK2 kinase activity and that small-molecule LRRK2 kinase inhibitors can be neuroprotective in preclinical models of PD have placed LRRK2 at the centre of disease modification efforts in PD. Read More

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February 2020

Pulmonary veno-occlusive disease: a probably underdiagnosed cause of pulmonary hypertension in systemic sclerosis.

Clin Rheumatol 2020 May 22;39(5):1687-1691. Epub 2020 Jan 22.

Cardiology Department, Hospital Garcia de Orta EPE, Avenida Torrado da Silva, 2805-267, Almada, Portugal.

Pulmonary hypertension is a serious complication of systemic sclerosis and remains one of the leading causes of mortality. Pulmonary veno-occlusive disease (PVOD), recently reclassified as pulmonary arterial hypertension (PAH) with overt features of venous/capillaries involvement, is a subgroup of group 1 pulmonary hypertension, which has been rarely reported in systemic sclerosis patients. It is symptomatically indistinguishable from idiopathic pulmonary arterial hypertension and should be suspected in those with manifestations of pulmonary arterial hypertension who have evidence of pulmonary venous congestion in the absence of left-sided heart disease. Read More

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VPS35-Based Approach: A Potential Innovative Treatment in Parkinson's Disease.

Front Neurol 2019 17;10:1272. Epub 2019 Dec 17.

Department of Neurology, Humanitas Research Hospital, Milan, Italy.

Several symptomatic treatments for Parkinson's disease (PD) are currently available. Still, the challenge today is to find a therapy that might reduce degeneration and slow down disease progression. The identification of pathogenic mutations in familial Parkinsonism (fPD) associated to the monogenic forms of PD provided pathophysiological insights and highlighted novel targets for therapeutic intervention. Read More

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December 2019

Cutaneous manifestations of bartonellosis.

An Bras Dermatol 2019 Sep - Oct;94(5):594-602. Epub 2019 Oct 2.

Laboratory of Applied Research in Dermatology and Bartonella Infection, School of Medical Sciences, Universidade Estadual de Campinas, Campinas, SP, Brazil; Discipline of Dermatology, Department of Clinical Medicine, School of Medical Sciences, Universidade Estadual de Campinas, Campinas, SP, Brazil. Electronic address:

Bartonellosis are diseases caused by any kind of Bartonella species. The infection manifests as asymptomatic bacteremia to potentially fatal disorders. Many species are pathogenic to humans, but three are responsible for most clinical symptoms: Bartonella bacilliformis, Bartonella quintana, and Bartonella henselae. Read More

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December 2019

The Role of Genetic Testing in the Clinical Practice and Research of Early-Onset Parkinsonian Disorders in a Hungarian Cohort: Increasing Challenge in Genetic Counselling, Improving Chances in Stratification for Clinical Trials.

Front Genet 2019 31;10:1061. Epub 2019 Oct 31.

Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.

The genetic analysis of early-onset Parkinsonian disorder (EOPD) is part of the clinical diagnostics. Several genes have been implicated in the genetic background of Parkinsonism, which is clinically indistinguishable from idiopathic Parkinson's disease. The identification of patient's genotype could support clinical decision-making process and also track and analyse outcomes in a comprehensive fashion. Read More

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October 2019

Comparative survival analysis between idiopathic pulmonary fibrosis and chronic hypersensitivity pneumonitis.

Pulmonology 2020 Jan - Feb;26(1):3-9. Epub 2019 Nov 14.

Interstitial lung disease clinic. Hospital María Ferrer Buenos Aires, Argentina.

Introduction: Chronic hypersensitivity pneumonitis (CHP) is an interstitial lung disease with limited treatment response and bad prognosis. Sometimes it is indistinguishable from idiopathic pulmonary fibrosis (IPF) becoming one of the main differential diagnosis. The aim of our study is to compare survival and functional decline between these two entities. Read More

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November 2020

Presentations and outcomes of interstitial lung disease and the anti-Ro52 autoantibody.

Respir Res 2019 Nov 12;20(1):256. Epub 2019 Nov 12.

Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital and Harvard Medical School, 100 Blossom St, Cox 201, Boston, MA, 02114, USA.

Background: Distinct clinical presentations of interstitial lung disease (ILD) with the myositis-specific antibodies, including anti-synthetase antibodies, are well-recognized. However, the association between ILD and the myositis-associated antibodies, including anti-Ro52, is less established. Our objectives were to compare presenting phenotypes of patients with anti-Ro52 alone versus in combination with myositis-specific autoantibodies and to identify predictors of disease progression or death. Read More

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November 2019

Long-Term Exposure to PFE-360 in the AAV-α-Synuclein Rat Model: Findings and Implications.

eNeuro 2019 Nov/Dec;6(6). Epub 2019 Dec 19.

Neurodegeneration, Neuroscience Drug Discovery DK, H. Lundbeck A/S, DK-2500 Valby Denmark.

Parkinson's disease (PD) is a progressive neurodegenerative disorder associated with impaired motor function and several non-motor symptoms, with no available disease modifying treatment. Intracellular accumulation of pathological α-synuclein inclusions is a hallmark of idiopathic PD, whereas, dominant mutations in leucine-rich repeat kinase 2 (LRRK2) are associated with familial PD that is clinically indistinguishable from idiopathic PD. Recent evidence supports the hypothesis that an increase in LRRK2 kinase activity is associated with the development of not only familial LRRK2 PD, but also idiopathic PD. Read More

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Meta-analysis of blood genome-wide expression profiling studies in pulmonary arterial hypertension.

Am J Physiol Lung Cell Mol Physiol 2020 01 16;318(1):L98-L111. Epub 2019 Oct 16.

Critical Care Medicine Department, Clinical Center, and National Institutes of Health, Bethesda, Maryland.

Inflammatory cell infiltrates are a prominent feature of aberrant vascular remodeling in pulmonary arterial hypertension (PAH), suggesting that immune effector cells contribute to disease progression. Genome-wide blood expression profiling studies have attempted to better define this inflammatory component of PAH pathobiology but have been hampered by small sample sizes, methodological differences, and very little gene-level reproducibility. The current meta-analysis (seven studies; 156 PAH patients/110 healthy controls) was performed to assess the comparability of data across studies and to possibly derive a generalizable transcriptomic signature. Read More

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January 2020

Psoriasis precipitated by timolol eye drops. A series of eight cases.

Australas J Dermatol 2020 Feb 6;61(1):e91-e93. Epub 2019 Sep 6.

Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.

Induction of psoriasis following administration of beta blocker containing eye drops has rarely been documented. We report eight cases of psoriasis triggered by timolol eye drops. Since the clinical and histopathological features of this drug reaction are indistinguishable from those of idiopathic psoriasis, a thorough drug history should be taken in all patients, especially elderly ones, with recent onset of psoriasis. Read More

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February 2020

Pioneering studies on monogenic central precocious puberty.

Arch Endocrinol Metab 2019 Aug 22;63(4):438-444. Epub 2019 Aug 22.

Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42 do Hospital das Clínicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.

Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 years in girls and boys, respectively; familial CPP is defined by the occurrence of CPP in two or more family members. Pioneering studies have evidenced the participation of genetic factors in pubertal timing, mainly identifying genetic causes of CPP in sporadic and familial cases. Read More

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Clinical spectrums and outcomes of necrotizing autoimmune myopathy versus other idiopathic inflammatory myopathies: a multicenter case-control study.

Clin Rheumatol 2019 Dec 24;38(12):3459-3469. Epub 2019 Aug 24.

Division of Rheumatology, Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkoknoi, Bangkok, 10700, Thailand.

Objective: To investigate the clinical characteristics, laboratory features, and treatment outcomes of Thai patients compared between those with necrotizing autoimmune myopathy (NAM) and those with other idiopathic inflammatory myopathies (IIMs) or non-NAM.

Methods: This multicenter case-control study included patients aged ≥ 18 years who were diagnosed with IIMs by muscle pathology, and who had relevant clinical and laboratory data, including muscle enzymes, from at least 3 follow-up visits during a 1-year period. Baseline clinical and laboratory data were recorded. Read More

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December 2019

Motility Patterns Following Esophageal Pharmacologic Provocation With Amyl Nitrite or Cholecystokinin During High-Resolution Manometry Distinguish Idiopathic vs Opioid-Induced Type 3 Achalasia.

Clin Gastroenterol Hepatol 2020 04 13;18(4):813-821.e1. Epub 2019 Aug 13.

Division of Gastroenterology and Hepatology, Medical College of Wisconsin, Milwaukee, Wisconsin.

Background & Aims: In some patients, the type 3 achalasia (A3) motor pattern may be an effect of chronic use of high-dose opioids. No motor findings have been identified to differentiate opioid-induced A3 (OA3) from idiopathic A3 (IA3). We investigated whether OA3 could be distinguished from IA3 on the basis of differences in esophageal motor responses to amyl nitrite, cholecystokinin, or atropine. Read More

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Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Hum Mutat 2019 11 6;40(11):2033-2043. Epub 2019 Aug 6.

Genetic Department, INSERM UMR_S933, Hôpital Trousseau, Sorbonne Université, AP-HP, Paris, France.

Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with nonsyndromic IGHD. Read More

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November 2019