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Still’s disease

Charles Chazot, Guillaume Jean
Recently the concept that prescription of chronic hemodialysis (HD) start should be tailored based on residual renal function (RRF) and urine output (UO) has been revived from the past and called infrequent or incremental dialysis. It mainly consists in prescribing 1 or 2 HD sessions per week instead of what has become the standard thrice-weekly HD. It is both surprising and fascinating that almost 60 years after the first end-stage kidney disease patient was treated by Scribner et al. [Trans Am Soc Artif Intern Organs 1960; 6: 114-122], the nephrology community still questions the best way to start HD therapy...
December 5, 2018: Blood Purification
Nikolaos Settas, Rebecca Persky, Fabio R Faucz, Nicole Sheanon, Antonis Voutetakis, Maya Lodish, Louise A Metherell, Constantine A Stratakis
Context: Multiple autosomal recessive genes have been etiologically linked to Primary Adrenal Insufficiency (PAI). Recently, SGPL1 gene mutations were recognized as causes of steroid-resistant nephrotic syndrome type 14 (NPHS14), a sphingolipidosis with multisystemic manifestations including PAI. Interestingly, this is the only monogenetic form of nephrotic syndrome (NS) and the sole sphingolipidosis causing adrenal disease. Objective: To understand if SGPL1 mutations are involved in the pathogenesis of PAI in patients who do not exhibit NS...
December 3, 2018: Journal of Clinical Endocrinology and Metabolism
Daniela Gardiol, Federico Marziali, María Paula Dizanzo, Ana Laura Cavatorta
Human Disc large (DLG1) is a scaffolding protein that through the interaction with diverse cell partners participates in the control of key cellular processes such as polarity, proliferation and migration. Experimental data have mainly identified DLG1 as a tumor suppressor. An outstanding point for DLG1 protein is that altered DLG1 expression and DLG1 gene mutations were observed in different pathologies, including cancer and neurological and immunological disorders. Evident changes in DLG1 abundance and/or cell localization were identified in a number of studies suggesting its participation in molecular mechanisms responsible for the development of such illnesses...
December 1, 2018: Biological Chemistry
Breno Franco Silveira Fernandes, Paulo Caramelli
PURPOSE OF REVIEW: To address the important relationships between stroke and infection, focusing on the most frequent infections found in low-income and middle-income countries. RECENT FINDINGS: Stroke is one of the leading causes of mortality and disability worldwide, with a great proportion of the stroke burden occurring in low-income and middle-income countries. Infectious diseases are still a great health problem in developing countries and it is possible that the proportion of infection-related strokes is greater in these nations...
December 3, 2018: Current Opinion in Neurology
Bruno L Ferreyro, Laveena Munshi
PURPOSE OF REVIEW: A wide spectrum of heterogeneous conditions can render a patient immunocompromised. Recent years have seen an increase in the number of immunocompromised patients given the earlier detection of conditions that require immunosuppressive therapies, changes in immunosuppressive regimens leading to increased survival or novel therapeutic advancements in oncologic care. Acute respiratory failure (ARF) is the leading cause of critical illness and mortality in this population...
December 3, 2018: Current Opinion in Critical Care
Claudia Crimi, Sebastian Ferri, Nunzio Crimi
PURPOSE OF REVIEW: To explore the latest insight of the literature on the asthma/bronchiectasis phenotype providing an updated overview about epidemiological, clinical and biological evidence linking these two conditions. RECENT FINDINGS: An increasing body of literature has shown that the association of asthma and bronchiectasis is a frequent phenomenon leading to a more severe disease with frequent exacerbations. The mechanisms by which the two diseases are linked are still not well established but they share several clinical and immunological features and many comorbidities...
December 3, 2018: Current Opinion in Allergy and Clinical Immunology
J P Haran, E Wilsterman, T Zeoli, M Goulding, E McLendon, M A Clark
The Infectious Disease Society of America (IDSA) publishes guidelines regularly for the management of skin and soft tissue infections; however, the extent to which practice patterns follow these guidelines and if this can affect treatment failure rates is unknown. We observed the treatment failure rates from a multicentre retrospective ambulatory cohort of adult emergency department patients treated for a non-purulent skin infection. We used multivariable logistic regression to examine the role of IDSA classification and whether adherence to IDSA guidelines reduced treatment failure...
December 5, 2018: Epidemiology and Infection
Alessandro Poggi, Maria Raffaella Zocchi
Mesenchymal stromal cells (MSC) are mesodermal elements characterized by the ability to differentiate into several types of cells present mainly in connective tissues. They play a key function in tissue homeostasis and repair. Furthermore, they exert a strong effect on both innate and adaptive immune response. The main current of thought considers MSC as strong inhibitors of the immune system. Indeed, the first description of MSC immunomodulation pointed out their inability to induce allo immune responses and their veto effects on mixed lymphocyte reactions...
December 4, 2018: Current Stem Cell Research & Therapy
İkbal Şencan, Tatiana V Esipova, Mohammad A Yaseen, Buyin Fu, David A Boas, Sergei A Vinogradov, Mahnaz Shahidi, Sava Sakadžić
Impaired oxygen delivery and/or consumption in the retinal tissue underlies the pathophysiology of many retinal diseases. However, the essential tools for measuring oxygen concentration in retinal capillaries and studying oxygen transport to retinal tissue are still lacking. We show that two-photon phosphorescence lifetime microscopy can be used to map absolute partial pressures of oxygen (pO2) in the retinal capillary plexus. Measurements were performed at various retinal depths in anesthetized mice under systemic normoxic and hyperoxic conditions...
December 2018: Journal of Biomedical Optics
Samira Asghari, Amir Valizadeh Dizajeykan, Majid Ahmadi, Abolfazl Barzegari, Reza Rikhtegar, Sanam Dolati, Shahla Danaii, Sedigheh Abdollahi-Fard, Mohammad Nouri, Mahdi Mahdipour, Mehdi Yousefi
BACKGROUND: Despite at the beginning known as a benign disease, endometriosis is defined as a risk factor for developing ovarian carcinoma. The effect of endometriosis on ovarian malignancy is known but its role in granulosa cell tumor is still unclear. METHODS AND MATERIALS: In this study, serum samples were collected from patients with endometriosis and divided into whole and steroid-depleted groups. Desertification was performed according to the charcoal-dextran protocol and sera were added to the culture media of granulosa cells retrieved from tubal or male factor infertile women...
December 4, 2018: Journal of Cellular Physiology
Yi Ding, Xueli Zhao, Jingping Geng, Xiangli Guo, Jielan Ma, Hu Wang, Changbai Liu
Although gene therapy offers hope against incurable diseases, nonreplicating transduction vectors remain lacking. We have previously characterized a cell-penetrating peptide hPP10 for the delivery of various cargoes; however, whether hPP10 can mediate nucleic acid delivery is still unknown. Here, examining via different ways, we demonstrate that hPP10 stably complexes with plasmid DNA (pDNA) and safely mediates nucleic acid transfection. hPP10 can mediate GFP-, dsRed-, and luciferase-expressing plasmids into cells with nearly the same efficiency as commercial transfection reagents Turbofectin or Lipofect...
December 4, 2018: Journal of Cellular Physiology
Alfredo Rivas-Delgado, Laura Magnano, Miriam Moreno-Velázquez, Olga García, Ferran Nadeu, Pablo Mozas, Ivan Dlouhy, Tycho Baumann, Jordina Rovira, Blanca González-Farre, Antonio Martínez, Olga Balague, Julio Delgado, Neus Villamor, Eva Giné, Elías Campo, Juan M Sancho-Cia, Armando López-Guillermo
Follicular lymphoma (FL) is an indolent disease characterized by long survival but frequent relapses. Before the introduction of rituximab, the clinical course of these patients showed a shorter response duration (RD) after each relapse. In this study, we analysed if this pattern of shortened responses remains in patients treated in the rituximab era. We selected 348 patients newly diagnosed with FL in two institutions between 2001 and 2014 that received chemoimmunotherapy. After a median follow-up of 6·3 years, 10-year progression-free and overall survivals were 53% and 72%, respectively...
December 4, 2018: British Journal of Haematology
Peter W French, Russell Ludowyke, Gilles J Guillemin
We review several lines of evidence that point to a potential fungal origin of sporadic amyotrophic lateral sclerosis (ALS). ALS is the most common form of motor neuron disease (MND) in adults. It is a progressive and fatal disease. Approximately 90% cases of ALS are sporadic, and 5-10% are due to genetic mutations (familial). About 25 genes implicated in familial ALS have been identified so far, including SOD1 and TARDBP, the gene encoding 43 kDa transactive response (TAR) DNA-binding protein (TDP-43). Despite intensive research over many decades, the aetiology of sporadic ALS is still unknown...
December 5, 2018: Neurotoxicity Research
Angela T S Wyse, Mateus Grings, Moacir Wajner, Guilhian Leipnitz
Sulfite oxidase (SO) deficiency is an autosomal recessive inherited neurometabolic disease caused by deficient activity of SO. It is biochemically characterized by tissue accumulation and high urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. Severe neurological symptoms, including neonatal seizures, encephalopathy, and psychomotor retardation, are commonly observed in the affected patients, but the pathogenesis of the neurologic dysfunction is still poorly understood. In this minireview, we will briefly summarize the knowledge obtained from in vivo and in vitro findings from animal studies indicating that oxidative stress and mitochondrial dysfunction are involved in the pathophysiology of the brain damage in this disease...
December 5, 2018: Neurotoxicity Research
Alexandra Doncarli, Virginie Demiguel, Irina Guseva Canu, Véronique Goulet, Sophie Bayart, Thierry Calvez, Sabine Castet, Vincent Dalibard, Yohan Demay, Birgit Frotscher, Jenny Goudemand, Thierry Lambert, Vanessa Milien, Caroline Oudot, Thomas Sannié, Hervé Chambost
FranceCoag is an ongoing open prospective multicentre cohort project aimed at improving epidemiological knowledge about inherited bleeding disorders in France. The main objective of this article was to evaluate the project's progress as of the 30th December 2016. Between 1994 and this date, of the 10,047 patients included in the study, 384 (3.8%) were reported by clinicians to have died and 159 (1.6%) to be lost to follow-up. Among the remaining 9504 patients still being followed up, 5748 (60.5%) had haemophilia A, 1300 (13...
December 5, 2018: European Journal of Epidemiology
Aleksandra Napieralska, Iwona Brąclik, Michał Radwan, Marek Mandera, Sławomir Blamek
PURPOSE: To assess the results and tolerance of radiosurgery/hypofractionated stereotactic radiotherapy performed after craniospinal irradiation for recurrent tumor. METHODS: Fourteen patients aged 3-46 years, diagnosed with medulloblastoma (10), anaplastic ependymoma (3), and primitive neuroectodermal tumor (1). All patients had craniospinal irradiation (CSI) with the total dose of 30.6-36 Gy and boost to 53.9-60 Gy either during primary or during second-line treatment...
December 4, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Sheng Luo, Xuehan Ren, Weilu Han, Christopher G Goetz, Glenn T Stebbins
Objective: Identify the number of allowable missing values still permitting valid surrogate score calculation for the Unified Dyskinesia Rating Scale (UDysRS). Background: Missing data frequently occur in Parkinson's disease rating scales, and they compromise data validity, risking data exclusion from final analyses. Methods: Accessing the International Parkinson and Movement Disorder Society-sponsored UDysRS translation databases (3313 complete scores)...
September 2018: Movement Disorders Clinical Practice
Sammia Rehman, Ayesha Obaid, Anam Naz, Amjad Ali, Shahzina Kanwal, Jamil Ahmad
Background: A positive association between diabetes and breast cancer has been identified by various epidemiological and clinical studies. However, the possible molecular interactions between the two heterogeneous diseases have not been fully determined yet. There are several underlying mechanisms which may increase the risk of breast cancer in diabetic patients. Introduction: In this study, we focused on the role of O-GlcNAc transferase (OGT) enzyme in the regulation of phosphatidylinositol-3 kinase (PI3K) pathway through activation/deactivation of Akt protein...
2018: PeerJ
Bing Han, Qiang Guo
Introduction: Clinically amyopathic dermatomyositis (CADM) is a rare disease with unknown origin. It is characterized by the specific skin lesions of dermatomyositis (DM) without clinical or laboratory evidence of myopathy. Previous studies indicated that tattoo may induce immune response. Case Report: A 22-year-old male who tattooed butterfly on the left chest with blue and red ink. Then, he gradually had typical Gottron rash and interstitial lung disease (ILD) without weakness of the muscle...
2018: Case Reports in Rheumatology
Vivian Peirano, María Noel Bianco, Armando Navarro, Felipe Schelotto, Gustavo Varela
Introduction: Acute diarrheal disease still deserves worldwide attention due to its high morbidity and mortality, especially in developing countries. While etiologic determination is not mandatory for management of all individual cases, it is needed for generating useful epidemiologic knowledge. Diarrheagenic Escherichia coli (DEC) are relevant enteropathogens, and their investigation requires specific procedures to which resources and training should be dedicated in reference laboratories...
2018: Canadian Journal of Infectious Diseases & Medical Microbiology
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