PubMed Journals Articles About "Papillon Lefevre Disease" RSS

19:25 EST 11th December 2018 | BioPortfolio

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Showing "Papillon Lefevre Disease" PubMed Articles 1–25 of 21,000+

Papillon-Lefèvre syndrome.

Aggregated neutrophil extracellular traps resolve inflammation by proteolysis of cytokines and chemokines and protection from antiproteases.

Papillon-Lefèvre syndrome (PLS) is characterized by nonfunctional neutrophil serine proteases (NSPs) and fulminant periodontal inflammation of unknown cause. Here we investigated neutrophil extracellular trap (NET)-associated aggregation and cytokine/chemokine-release/degradation by normal and NSP-deficient human and mouse granulocytes. Stimulated with solid or soluble NET inducers, normal neutrophils formed aggregates and both released and degraded cytokines/chemokines. With increasing cell density, prote...

On confusing cause and effect in the oxygen limitation of fish.

Given ocean warming, the GOLT predicts a reduction of the size of fish due to their inability to compensate, via their gill surface, for the increased metabolic rate that results from higher temperatures (Cheung et al., 2013). Lefevre et al. (2017, 2018) objected to this because they believe that fish can grow gills as needed, such that oxygen supply cannot be limiting their metabolism. Pauly & Cheung (2017) responded to this claim, refuted its various elements, and reiterated the basic dimensional argume...

Neonatal Behçet Disease.

Behçet's disease is a multi-system disease with inflammatory infestations, in particular of the small and middle arteries and veins. Histologically, the disease presents with the image of leukocytoclastic vasculitis. The etiology of Behçet disease is unknown, but genetic factors are discussed of playing a role in its pathogenesis. There is no known autoantibody, which could serve as a diagnostic tool. The disease usually affects patients in the 3. life decade and is rare in pediatrics. A very rare clinica...

Viewpoint: Toward the Genetic Architecture of Disease Severity in Inflammatory Bowel Diseases.

Inflammatory bowel disease (IBD) is characterized by uneven disease courses with various clinical outcomes. A few prognostic markers of disease severity may help stratify patients and identify those who will benefit the most from early aggressive treatment. The concept of disease severity remains too broad and vague, mainly because the definition must embrace several disease mechanisms, mainly inflammation and fibrosis, with various rates of disease progression. The magnitude of inflammation is an obvious k...

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis.

Huntington's disease is a rare, neurodegenerative disease caused by an expanded CAG repeat mutation in the huntingtin gene. Compared with adult-onset Huntington's disease, juvenile Huntington's disease (onset ≤20 years) is even rarer and has not been studied extensively. We aimed to further characterise juvenile Huntington's disease by examining the effect of CAG repeat size on disease presentation, progression, and survival.

HLA Class I in Egyptian patients with Behçet's disease: new association with susceptibility, protection, presentation and severity of manifestations.

Behçet's disease is an autoimmune disease with diverse clinical manifestations with vasculitis being the hallmark of the disease. The aim of this work is to study the genetic association between human leukocyte antigen (HLA) class-I molecules of Egyptians with Behçet's disease and the disease susceptibility and clinical patterns.

New insights into cardiovascular disease in patients with Kawasaki disease.

Kawasaki disease presents many challenges to the diverse group of physicians who care for these patients including infectious disease specialists, rheumatologists, and cardiologists. Here we review some of the progress being made toward improved understanding of disease pathogenesis, treatment, and long-term outcomes.

Gastrointestinal presentation of Kawasaki disease: A red flag for severe disease?

Kawasaki disease (KD) is a febrile systemic vasculitis of unknown etiology and the main cause of acquired heart disease among children in the developed world. To date, abdominal involvement at presentation is not recognized as a risk factor for a more severe form of the disease.

Categorising Visual Hallucinations in Early Parkinson's Disease.

Visual hallucinations (VHs) are common in Parkinson's disease (PD), with prevalence ranging from 27-50% in cross-sectional cohorts of patients with well-established disease. However, minor hallucinations may occur earlier in the disease process than has been previously reported.

Disease or not, aging is easily treatable.

Is aging a disease? It does not matter because aging is already treated using a combination of several clinically-available drugs, including rapamycin. Whether aging is a disease depends on arbitrary definitions of both disease and aging. For treatment purposes, aging is a deadly disease (or more generally, pre-disease), despite being a normal continuation of normal organismal growth. It must and, importantly, can be successfully treated, thereby delaying classic age-related diseases such as cancer, cardiov...

Neuroimaging advances in Parkinson's disease.

Neuroimaging in Parkinson's disease is an evolving field, providing in-vivo insights into the structural and biochemical changes of the condition, although its diagnosis remains clinical. Here, we aim to summarize the most relevant recent advances in neuroimaging in Parkinson's disease to assess the underlying disease process, identify a biomarker of disease progression and guide or monitor therapeutic interventions.

Recurrent intestinal ischemia related to Behçet's Disease.

Behçet's disease is a systemic inflammatory disease that may affect multiple organs. However, intraabdominal complications requiring surgical intervention are rare in the natural course of the disease. A 32-year-old male patient with Behçet's disease who had been followed for 5 years with a diagnosis of acute abdominal syndrome was operated on twice in 18 days. Intestinal ischemia was identified in different segments of the jejenum during each operation. Recurrent segmental intestinal ischemia within a sh...

Peripheral Arterial Disease in Women: an Overview of Risk Factor Profile, Clinical Features, and Outcomes.

Peripheral arterial disease (PAD) is the third most common manifestation of cardiovascular disease (CVD), following coronary artery disease (CAD) and stroke. PAD remains underdiagnosed and under-treated in women.

Validation of new potential targets for remission and low disease activity in psoriatic arthritis in patients treated with golimumab.

Treat to target recommendations for PsA state that the target of treatment should be remission or, at the very least, low disease activity. Different clinical indexes have been proposed to define these disease states including the minimal disease activity criteria and the Disease Activity Index for PsA (DAPSA) scores, which have 7 and 4-5 domains, respectively. Using a Canadian cohort, the objectives were to calculate the proportion of patients achieving these criteria, their prognostic value and the overal...

Perianal Paget disease treated with wide excision and thigh skin flap reconstruction: a case report and review of literature.

Extramammary Peget disease (EMPD) is a rare tumor, which typically occurs in the perianal regions. Perianal Paget disease (PPD) was first reported in 1893, and which has only 180 cases that have been reported in literature. The rarity of the disease means that no large studies have been made, and so the optimal treatment for this disease still remains controversial.

Surgery for Intestinal Crohn's Disease: Results of a multidisciplinary approach.

Crohn's disease is a chronic inflammatory bowel disease that requires lifelong multidisciplinary management. Seventy percent of patients affected by Crohn's disease will require at least one surgical procedure over their lifetime. The aim of this retrospective study was to present our series of patients suffering from Crohn's disease who were scheduled for surgery by a multidisciplinary team.

Small Vessel Cerebrovascular Pathology Identified by Magnetic Resonance Imaging Is Prevalent in Alzheimer's Disease and Mild Cognitive Impairment: A Potential Target for Intervention.

There is evidence that Alzheimer's disease (AD) has significant cerebrovascular etiopathogenesis. Understanding potentially modifiable risk factors for vascular disease can help design long-term intervention strategies for controlling or preventing cognitive dysfunction attributable to cerebrovascular disease.

Thyroid-Associated Orbitopathy and Biomarkers: Where We Are and What We Can Hope for the Future.

Thyroid-associated orbitopathy (TAO) is the most common autoimmune disease of the orbit. It occurs more often in patients presenting with hyperthyroidism, characteristic of Graves' disease, but may be associated with hypothyroidism or euthyroidism. The diagnosis of TAO is based on clinical orbital features, radiological criteria, and the potential association with thyroid disease. To date, there is no specific marker of the orbital disease, making the early diagnosis difficult, especially if the orbital inv...

Height as a clinical biomarker of disease burden in adult mitochondrial disease.

Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between final adult height, and disease severity.

The microbiome of Crohn's disease aphthous ulcers.

Reduced intestinal microbial diversity and bacterial imbalance (dysbiosis) are seen in studies of Crohn's disease. As it is difficult to obtain biopsy samples before disease presentation, the earliest mucosal lesions in Crohn's disease, aphthous ulcers, present the best chance at assessing microbial communities at the onset of disease or a new flare. The aim of our study was to compare the microbial communities of aphthous ulcers and adjacent normal mucosa from patients with Crohn's disease with normal muco...

Activation of the Cannabinoid Type 2 Receptor by a Novel Indazole Derivative Normalizes the Survival Pattern of Lymphoblasts from Patients with Late-Onset Alzheimer's Disease.

Alzheimer's disease is a multifactorial disorder for which there is no disease-modifying treatment yet. CB2 receptors have emerged as a promising therapeutic target for Alzheimer's disease because they are expressed in neuronal and glial cells and their activation has no psychoactive effects.

Intestinal Behçet Disease: Evaluation With MR Enterography-A Case-Control Study.

The purposes of this study were to discern imaging findings that distinguish Behçet disease from small-bowel Crohn disease, to find initial performance estimates for these findings, and to evaluate the diagnostic value of MR enterography (MRE) for detecting intestinal Behçet disease.

Multiorgan involvement of Behçet's disease in a young woman.

Behçet's disease is a rare disorder of unknown etiology that is classified as a systemic vasculitis. The prevalence of the disease is high in countries in the Far East, Mediterranean Basin, and East Asia. Thus, it is also known as the Silk Road Disease. Behçet's disease is characterized by recurrent oral aphthous ulcers, genital sores, and ocular lesions. However, it can present with severe clinical manifestations as a result of cardiovascular system, central nervous system, and gastrointestinal tract inv...

Oligonucleotide therapy mitigates disease in Spinocerebellar Ataxia Type 3 mice.

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common dominantly inherited ataxia. Despite advances in understanding this CAG repeat/polyglutamine expansion disease, there are still no therapies to alter its progressive fatal course. Here we investigate whether an antisense oligonucleotide (ASO) targeting the SCA3 disease gene, ATXN3, can prevent molecular, neuropathological, electrophysiological and behavioral features of the disease in a mouse model of SCA3.

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