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still‘s disease

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
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
L Bramasole, A Sinha, S Gurevich, M Radzinski, Y Klein, N Panat, E Gefen, T Rinaldi, D Jimenez-Morales, J Johnson, N J Krogan, N Reis, D Reichmann, M H Glickman, E Pick
Cycles of Cdc53/Cullin1 rubylation (a.k.a NEDDylation) protect ubiquitin-E3 SCF (Skp1-Cullin1-F-box protein) complexes from self-destruction and play an important role in mediating the ubiquitination of key protein substrates involved in cell cycle progression, development, and survival. Cul1 rubylation is balanced by the COP9 signalosome (CSN), a multi-subunit derubylase that shows 1:1 paralogy to the 26S proteasome lid. The turnover of SCF substrates and their relevance to various diseases is well studied, yet, the extent by which environmental perturbations influence Cul1 rubylation/derubylation cycles per se is still unclear...
November 17, 2018: Redox Biology
Wenyi Wang, Binghe Wang
SO2 is widely recognized as an air pollutant and is a known cause of acid rain. At a sufficiently high level, it also causes respiratory diseases. A much lesser known side of SO2 is its endogenous nature and possible physiological roles. There is mounting evidence that SO2 is produced during normal cellular metabolism and may possibly function as a signaling molecule in normal physiology. The latter aspect is still at the stage of being carefully examined as to the validity of classifying SO2 as a gasotransmitter with endogenous signaling roles...
2018: Frontiers in Chemistry
Salvatore Amodeo, Antonio Masi, Marcovalerio Melis, Theresa Ryan, Howard S Hochster, Deirdre J Cohen, Anurag Chandra, H Leon Pachter, Elliot Newman
Background: Half of patients with pancreatic adenocarcinoma (PC) present with regionally advanced disease. This includes borderline resectable and locally advanced unresectable tumors as defined by current NCCN guidelines for resectability. Chemoradiation (CH-RT) is used in this setting in attempt to control local disease, and possibly downstage to resectable disease. We report a phase I/II trial of a combination of 5FU/Oxaliplatin with concurrent radiation in patients presenting with borderline resectable and locally advanced unresectable pancreatic cancer...
October 2018: Journal of Gastrointestinal Oncology
Dong Hyuk Lee, Peter Lee, Sang Won Seo, Jee Hoon Roh, Minyoung Oh, Jungsu S Oh, Seung Jun Oh, Jae Seung Kim, Yong Jeong
The concept of cognitive reserve (CR) originated from discrepancies between the degree of brain pathology and the severity of clinical manifestations. CR has been characterized through CR proxies, such as education and occupation complexity; however, such approaches have inherent limitations. Although several methods have been developed to overcome these limitations, they fail to reflect the entire Alzheimer's disease (AD) pathology. Meanwhile, graph theory analysis, one of most powerful and flexible approaches, have established remarkable network properties of the brain...
November 29, 2018: NeuroImage
Lichan Tao, Long Wang, Xiaoyu Yang, Xiaohong Jiang, Fei Hua
BACKGROUND AND AIMS: Obstructive sleep apnea syndrome is a chronic disease associated with intermittent hypoxia (IH) and is an important risk factor for cardiovascular disease. Glucagon-like peptide (GLP-1) is a naturally occurring incretin used as a promising therapeutic agent in the treatment of acute myocardial infarction, dilated cardiomyopathy, and advanced heart failure. However, whether GLP-1 can protect against IH-induced cardiac injury is still unclear. Accordingly, in this study, we evaluated the effects of recombinant human GLP-1 (rhGLP-1) on cardiac health in mice...
November 29, 2018: Molecular and Cellular Endocrinology
Susan M Hiatt, Matthew B Neu, Ryne C Ramaker, Andrew A Hardigan, Jeremy W Prokop, Miroslava Hancarova, Darina Prchalova, Marketa Havlovicova, Jan Prchal, Viktor Stranecky, Dwight K C Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, Marlene Rio, Anya Revah-Politi, Parisa Hemati, Nicholas Stong, Alejandro D Iglesias, Sharon F Suchy, Rebecca Willaert, Ingrid M Wentzensen, Patricia G Wheeler, Lauren Brick, Mariya Kozenko, Anna C E Hurst, James W Wheless, Yves Lacassie, Richard M Myers, Gregory S Barsh, Zdenek Sedlacek, Gregory M Cooper
Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian diseases known as RASopathies. However, among RASopathies, the matrix of genotype-phenotype relationships is still incomplete, in part because there are many RAS-related proteins and in part because the phenotypic consequences may be variable and/or pleiotropic. Here, we describe a cohort of ten cases, drawn from six clinical sites and over 16,000 sequenced probands, with de novo protein-altering variation in RALA, a RAS-like small GTPase...
November 30, 2018: PLoS Genetics
Akanksha Mishra, Sonu Singh, Virendra Tiwari, Parul, Shubha Shukla
Parkinson's disease (PD) is primarily characterized by midbrain dopamine depletion. Dopamine acts through dopamine receptors (D1 to D5) to regulate locomotion, motivation, pleasure, attention, cognitive functions and formation of newborn neurons, all of which are likely to be impaired in PD. Reduced hippocampal neurogenesis associated with dopamine depletion has been demonstrated in patients with PD. However, the precise mechanism to regulate multiple steps of adult hippocampal neurogenesis by dopamine receptor(s) is still unknown...
November 27, 2018: Neurochemistry International
O S Brusov, I V Oleichik, M I Faktor, N S Karpova, S V Sizov, O A Yunilaynen
AIM: To detect coagulability impairment of blood plasma in patients with schizophrenia or affective disease in a state of exacerbation using a thrombodynamics test. MATERIAL AND METHODS: The study included 46 women, 32 with attack-like/shift-like/or continuous schizophrenia (ICD-10: F20.00, F20.01, F20.02), 7 with schizotypal disorder (ICD-10: F21.3-21.4) and 7 with affective disorder (ICD-10: F32.00, F32.3). Thrombodynamics tests were performed on T-2 thrombodynamics analyzer ('Hemacore LLC', Moscow, Russia)...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
A A Fedorov, A S Kaisinova, I E Oranskiy, S V Sapronenok, Z A Vakhaeva, L A Cherevashchenko, N V Efimenko, E N Chalaja
Despite the considerable achievements in the field of gastroenterology, there is still high incidence of diseases of the organs of the hepatobiliary system which necessitates the development of new therapeutic techniques for their management. Nowadays, high-intensity pulsed magnetic therapy is considered to be a highly efficacious method characterized by well-pronounced and many-sided action on the processes proceeding in the organism as a new preformed factor producing neurostimulatory, vasodilatory, trophic, and hypoalgesic effects...
2018: Voprosy Kurortologii, Fizioterapii, i Lechebnoĭ Fizicheskoĭ Kultury
Julie J Loiselle, Guangdong Yang, Lingyun Wu
Hydrogen sulfide (H2 S) is the most recently recognized gasotransmitter, influencing a wide range of physiological processes. As a critical regulator of metabolism, H2 S has been suggested to be involved in the pathology of many diseases, particularly obesity, diabetes and cardiovascular disorders. Its involvement in liver health has been brought to light more recently, particularly through knockout animal models, which show severe hepatic lipid accumulation upon ablation of H2 S metabolic pathways. A complex relationship between H2 S and lipid metabolism in the liver is emerging, which has significant implications for liver disease establishment and/or progression, regardless of the disease-causing agent...
November 29, 2018: British Journal of Pharmacology
Wei Li, Jun Han, Guowei Xie, Yang Xiao, Ke Sun, Kefei Yuan, Hong Wu
BACKGROUND: Although laparoscopic mesohepatectomy (LM) has been performed for patients with centrally located hepatocellular carcinoma (CL-HCC), its short- and long-term benefits compared with traditional open surgery remain unclear. The aim of the present study was to explore the independent role of LM in the prognosis of patients with CL-HCC. METHODS: A retrospective analysis was undertaken of 348 patients who underwent mesohepatectomy for CL-HCC between January 2012 and October 2017 in our hospital...
November 29, 2018: Surgical Endoscopy
Andrew Abaasa, Gershim Asiki, Andrew Obuku Ekii, Josephine Wanyenze, Pietro Pala, Govert J van Dam, Paul L A M Corstjens, Peter Hughes, Song Ding, Giuseppe Pantaleo, Pontiano Kaleebu, Alison M Elliott, Anatoli Kamali
Background: It has been hypothesised that Schistosoma co-infection exacerbates HIV progression, and hence anthelminthic intervention in co-infected individuals will delay it. We evaluated effects of high-intensity versus low-intensity praziquantel treatment of schistosomiasis on HIV disease progression among co-infected patients from fishing populations around Lake Victoria, Uganda. Methods : Between August 2012 and September 2015, we conducted an open-label randomised, controlled trial. Adults, antiretroviral therapy-naïve, CD4 counts ≥350 cells/μl, HIV and S...
2018: Wellcome Open Research
L Brussino, E Heffler, C Bucca, S Nicola, G Rolla
Asthma is a chronic and heterogeneous disease, which is defined as severe disease whenever it requires treatment with a high dose of inhaled corticosteroids plus a second controller and/or systemic corticosteroids to prevent it from becoming ''uncontrolled" or if it remains ''uncontrolled" despite this therapy. Severe asthma is a heterogeneous condition consisting of phenotypes such as eosinophilic asthma, which is characterized by sputum eosinophilia, associated with mild to moderate increase in blood eosinophil count, frequently adult-onset, and associated with chronic rhinosinusitis with nasal polyps in half of the cases...
2018: BioMed Research International
Carl Julien, Colson Tomberlin, Christine M Roberts, Aumbreen Akram, Gretchen H Stein, Michael A Silverman, Christopher D Link
Exposure to the β-amyloid peptide (Aβ) is toxic to neurons and other cell types, but the mechanism(s) involved are still unresolved. Synthetic Aβ oligomers can induce ion-permeable pores in synthetic membranes, but whether this ability to damage membranes plays a role in the ability of Aβ oligomers to induce tau hyperphosphorylation, or other disease-relevant pathological changes, is unclear. To examine the cellular responses to Aβ exposure independent of possible receptor interactions, we have developed an in vivo C...
November 29, 2018: Acta Neuropathologica Communications
H J Cui, J M Chen, J Zhuang, J Z Cen, G Xu, S S Wen
Objective: To analyze the early and midterm results of surgical treatment of interrupted aortic arch (IAA) with double-ventricular procedure. Methods: The data of the 68 cases with the main diagnosis of IAA with biventricular structure from June 2009 to June 2017 at Department of Cardiac Surgery, Guangdong General Hospital was collected, including 46 cases of type A, 22 cases of type B. There was no type C case. Except for 5 cases without patent ductus arteriosus or other intracardiac malformations, the remaining 63 cases were combined with intracardiac deformity...
December 1, 2018: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
Manuela Bartolini, José Marco-Contelles
Notwithstanding the clinical use of tacrine was hampered by severe hepatotoxicity, tacrine still remains a reference scaffold in the search for new efficient drugs for Alzheimer's disease therapy. In this account we summarize the efforts toward the development and characterization of non-hepatotoxic tacripyrines and related tacrine analogues resulting from the substitution of the benzene ring by a 1,4-dihydropyridine, a 1,2,3,4-tetrahydropyrimidine or a pyridone nucleus. These efforts have successfully led to the identification of a number of promising hits endowed with interesting multifunctional profiles...
November 29, 2018: Chemical Record: An Official Publication of the Chemical Society of Japan ... [et Al.]
Rakhshanda Mushtaq, Khurram Shahzad, Shahid Mansoor, Zahid Hussain Shah, Hameed Alsamadany, Tahir Mujtaba, Yahya Al-Zahrani, Hind A S Alzahrani, Zaheer Ahmed, Aftab Bashir
Cotton leaf curl virus (CLCuV) disease is one of the major limiting factors in cotton production, particularly in widely cultivated Gossypium hirsutum varieties that are susceptible to attack by this virus. Several approaches have been employed to explore putative resistance genes in another cotton species, G. arboreum . However, the exact mechanisms conferring disease resistance in cotton are still unknown. In the current study, we used various approaches to identify possible resistance genes against CLCuV infection...
December 2018: AoB Plants
Tainã S Lago, Juliana Almeida Silva, Ednaldo L Lago, Edgar M Carvalho, Dalila L Zanette, Léa Cristina Castellucci
L. (viannia) braziliensis infection causes American Tegumentary Leishmaniasis (ATL), with prolonged time to healing lesions. The potent inflammatory response developed by the host is important to control the parasite burden and infection however an unbalanced immunity may cooperate to the tissue damage observed. The range of mechanisms underlying the pathological responses associated with ATL still needs to be better understood. That includes epigenetic regulation by non-coding MicroRNAs (miRNAs), non-coding sequences around 22 nucleotides that act as post-transcriptional regulators of RNAs encoding proteins...
2018: Frontiers in Immunology
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