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https://www.readbyqxmd.com/read/29351582/sco2-mutations-cause-early-onset-axonal-charcot-marie-tooth-disease-associated-with-cellular-copper-deficiency
#1
Adriana P Rebelo, Dimah Saade, Claudia P Pereira, Amjad Farooq, Tyler C Huff, Lisa Abreu, Carlos T Moraes, Diana Mnatsakanova, Kathy Mathews, Hua Yang, Eric A Schon, Stephan Zuchner, Michael E Shy
Recessive mutations in the mitochondrial copper-binding protein SCO2, cytochrome c oxidase (COX) assembly protein, have been reported in several cases with fatal infantile cardioencephalomyopathy with COX deficiency. Significantly expanding the known phenotypic spectrum, we identified compound heterozygous variants in SCO2 in two unrelated patients with axonal polyneuropathy, also known as Charcot-Marie-Tooth disease type 4. Different from previously described cases, our patients developed predominantly motor neuropathy, they survived infancy, and they have not yet developed the cardiomyopathy that causes death in early infancy in reported patients...
January 16, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29351007/timing-of-renal-support-and-outcome-of-septic-shock-and-acute-respiratory-distress-syndrome
#2
Stéphane Gaudry, David Hajage, Frédérique Schortgen, Laurent Martin-Lefevre, Charles Verney, Bertrand Pons, Eric Boulet, Alexandre Boyer, Guillaume Chevrel, Nicolas Lerolle, Dorothée Carpentier, Nicolas de Prost, Alexandre Lautrette, Anne Bretagnol, Julien Mayaux, Saad Nseir, Bruno Megarbane, Marina Thirion, Jean-Marie Forel, Julien Maizel, Hodane Yonis, Philippe Markowicz, Guillaume Thiery, Florence Tubach, Jean-Damien Ricard, Didier Dreyfuss
RATIONALE: The optimal strategy for initiation of renal replacement therapy (RRT) in patients with severe acute kidney injury in the context of septic shock and acute respiratory distress syndrome (ARDS) is unknown. OBJECTIVE: To examine the effect of an early compared to a delayed RRT initiation strategy on 60-day mortality according to the baseline sepsis status, ARDS status and severity. METHODS: Post-hoc analysis of the AKIKI (Artificial-Kidney-Initiation in Kidney-Injury) trial...
January 19, 2018: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29348085/toxic-effect-of-common-poisonous-plants-of-district-bannu-khyber-pakhtunkhwa-pakistan
#3
Rehman Ullah Khan, Sultan Mehmood, Saad Ullah Khan
The present paper was a part of Ph.D research work, conducted during the year 2014, in which 87 poisonous plants belonging to 54 genera, were collected, documented and preserved in the herbarium of Bannu, Department of Botany UST, Bannu Khyber Pakhtunkwa Pakistan. The plants were identified botanically, arranged alphabetically along with their Latin name, family name, common name, poisonous parts, toxicity, affects, toxin and their effects. Aim of the study was to induce awareness in the local people of district Bannu about the poisonous effects of the commonly used plants...
January 2018: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29346182/atypical-teratoid-rhabdoid-tumor-of-the-cauda-equina-in-a-child-report-of-a-very-unusual-case
#4
James M Shiflett, Betty L Herrington, David A Joyner, Ali G Saad
Atypical teratoid/rhabdoid tumors (AT/RT) are highly aggressive malignant primitive neoplasms that commonly occur in children younger than 2 years of age. The prognosis is generally dismal with a median survival time of <1 year. The majority of AT/RT occur in the posterior fossa and less frequently the supratentorium. Primary pediatric spinal AT/RT are exceedingly rare and only 15 cases have been reported to date. Here we report a very unusual case of primary spinal AT/RT extensively involving the spinal cord from T11 down to the cauda equina...
January 16, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29345911/role-of-glycanation-and-convertase-maturation-of-the-soluble-glypican-3-in-inhibiting-proliferation-of-hepatocellular-carcinoma-cells
#5
Ahmad Saad, Benjamin Liet, Gilles Joucla, Xavier Santarelli, Justine Charpentier, Stéphane Claverol, Christophe F Grosset, Véronique Trézéguet
Glypican 3 (GPC3) is a complex heparan sulfate proteoglycan associated with the outer surface of the plasma membrane by a glycosyl-phosphatidylinositol anchor (GPI). It is also N-glycosylated and processed by a furine-like convertase. GPC3 has numerous biological functions. While undetectable in normal liver tissue, it is abnormally and highly overexpressed in hepatocellular carcinoma (HCC). Interestingly, proliferation of HCC cells such as HepG2 and HuH7 is inhibited when they express a soluble form of GPC3 after lentiviral transduction...
January 18, 2018: Biochemistry
https://www.readbyqxmd.com/read/29343588/modeling-the-impact-of-interhospital-transfer-network-design-on-stroke-outcomes-in-a-large-city
#6
Neal S Parikh, Abhinaba Chatterjee, Iván Díaz, Ankur Pandya, Alexander E Merkler, Gino Gialdini, Benjamin R Kummer, Saad A Mir, Michael P Lerario, Matthew E Fink, Babak B Navi, Hooman Kamel
BACKGROUND AND PURPOSE: We sought to model the effects of interhospital transfer network design on endovascular therapy eligibility and clinical outcomes of stroke because of large-vessel occlusion for the residents of a large city. METHODS: We modeled 3 transfer network designs for New York City. In model A, patients were transferred from spoke hospitals to the closest hub hospitals with endovascular capabilities irrespective of hospital affiliation. In model B, which was considered the base case, patients were transferred to the closest affiliated hub hospitals...
January 17, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29343214/establishing-a-genetic-link-between-fto-and-vdr-gene-polymorphisms-and-obesity-in-the-emirati-population
#7
Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman, Habiba Al Safar
BACKGROUND: Obesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. The aim of this study was to investigate the association of candidate gene single nucleotide polymorphisms (SNPs), namely FTO (rs9939609) and VDR (rs1544410), with obesity in the UAE population...
January 17, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29341193/impact-of-trans-fats-on-heat-shock-protein-expression-and-the-gut-microbiota-profile-of-mice
#8
Gessika Cristina Borges Castro Carvalho, Carolina Soares Moura, Aline Rissetti Roquetto, Daniel Barrera-Arellano, Aureo Tatsumi Yamada, Andrey Dos Santos, Mário José Abdalla Saad, Jaime Amaya-Farfan
Partially hydrogenated oils are known to cause metabolic stress and dyslipidemia. This paper explores a new dimension about the interaction between dietary trans-fats and the defense heat-shock protein (HSP) system, inflammation, and the gut microbiota of mice consuming a hyperlipidic diet containing partially hydrogenated vegetable oil free of animal fat. Five diet groups were installed: control diet, 2 hyperlipidic-partially hydrogenated-oil diets, each containing either casein or whey-protein hydrolysate (WPH) as protein source, and 2 consuming hyperlipidic-unhydrogenated-oil diets containing either WPH or casein as a protein source...
January 17, 2018: Journal of Food Science
https://www.readbyqxmd.com/read/29340130/mechanism-action-of-platelets-and-crucial-blood-coagulation-pathways-in-hemostasis
#9
REVIEW
Mercy Halleluyah Periayah, Ahmad Sukari Halim, Arman Zaharil Mat Saad
Blood is considered to be precious because it is the basic necessity for health; our body needs a steady provision of oxygen, supplied via blood, to reach billions of tissues and cells. Hematopoiesis is the process that generates blood cells of all lineages. However, platelets are the smallest blood component produced from the very large bone marrow cells called megakaryocytes and they play a fundamental role in thrombosis and hemostasis. Platelets contribute their hemostatic capacity via adhesion, activation and aggregation, which are triggered upon tissue injury, and these actions stimulate the coagulation factors and other mediators to achieve hemostasis...
October 1, 2017: International Journal of Hematology-oncology and Stem Cell Research
https://www.readbyqxmd.com/read/29339806/tumor-characteristics-treatments-and-oncological-outcomes-of-prostate-cancer-in-men-aged-%C3%A2-50-years-a-population-based-study
#10
Raisa S Pompe, Ariane Smith, Marco Bandini, Michele Marchioni, Tristan Martel, Felix Preisser, Sami-Ramzi Leyh-Bannurah, Jonas Schiffmann, Fred Saad, Hartwig Huland, Markus Graefen, Shahrokh F Shariat, Derya Tilki, Pierre I Karakiewicz
BACKGROUND: To examine clinical characteristics, treatment modalities and oncological outcomes of prostate cancer (PCa) according to young (≤50) vs. old age. METHODS: Of 407,599 men with primary adenocarcinoma of the prostate within the Surveillance, Epidemiology and End Results (SEER)-database (2004 to 2013), 18,387 were aged ≤50 years (4.5%). Time trends, cumulative incidence, and competing risks regression (CRR) analyses tested for differences between young and old patients...
January 16, 2018: Prostate Cancer and Prostatic Diseases
https://www.readbyqxmd.com/read/29339048/intrarenal-fat-deposition-does-not-interfere-with-the-measurement-of-single-kidney-perfusion-in-obese-swine-using-multi-detector-computed-tomography
#11
Christopher M Ferguson, Alfonso Eirin, Gregory J Michalak, Ahmad F Hedayat, Abdelrhman Abumoawad, Ahmed Saad, Xiangyang Zhu, Stephen C Textor, Cynthia H McCollough, Lilach O Lerman
BACKGROUND: Altered vascular structure or function in several diseases may impair renal perfusion. Multi-detector computed tomography (MDCT) is a non-invasive tool to assess single-kidney perfusion and function based on dynamic changes in tissue attenuation during contrast media transit. However, changes in basal tissue attenuation might hamper these assessments, despite background subtraction. Evaluation of iodine concentration using the dual-energy (DECT) MDCT mode allows excluding effects of basal values on dynamic changes in tissue attenuation...
January 10, 2018: Journal of Cardiovascular Computed Tomography
https://www.readbyqxmd.com/read/29337040/colonic-perforation-due-to-gi-histoplasmosis-in-an-immunocompetent-host-mimicking-crohn-s-disease
#12
Pir Saad, Hani Zamil, Marc F Catalano
No abstract text is available yet for this article.
January 11, 2018: Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/29336942/malleable-penile-implant-is-an-effective-therapeutic-option-in-men-with-peyronie-s-disease-and-erectile-dysfunction
#13
Mohamad Habous, Alaa Tealab, Mohammed Farag, Tarek Soliman, Ben Williamson, Saad Mahmoud, Amin Elserafy, Zenhom Mekawi, Abdallah Remeah, Mohammed Nassar, Osama Laban, Osama Abdelwahab, Saleh Binsaleh, Simone Giona, David Ralph, John Mulhall
BACKGROUND: The inflatable penile prosthesis (IPP) is typically the preferred implant for Peyronie's disease (PD) and malleable penile prostheses (MPPs) have been discouraged. AIMS: To evaluate the effectiveness and patient satisfaction of the MPP vs IPP in patients with PD. METHODS: Men with PD and erectile dysfunction who elected for penile implant surgery constituted the study population. Preoperatively, demographic and comorbidity parameters were recorded...
January 11, 2018: Sexual Medicine
https://www.readbyqxmd.com/read/29336388/assessment-the-effect-of-dexmedetomidine-on-incidence-of-paradoxical-hypertension-after-surgical-repair-of-aortic-coarctation-in-pediatric-patients
#14
Rabie Soliman, Dalia Saad
OBJECTIVE: The aim of the study was to assess the effect of dexmedetomidine on the incidence of paradoxical hypertension in patients undergoing aortic coarctation repair. DESIGN: Randomized observational study. SETTING: University hospital and cardiac center. PATIENTS: The study included 108 pediatric patients with isolated aortic coarctation. METHODS: The patients were classified into two groups (each = 54): Group D: the patients received dexmedetomidine as a loading dose of 0...
January 2018: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/29336050/sperm-fluorescent-in-situ-hybridisation-study-of-interchromosomal-effect-in-six-tunisian-carriers-of-reciprocal-and-robertsonian-translocations
#15
A Hajlaoui, W Slimani, M Kammoun, A Sallem, S Braham, M Bibi, A Saad, S Mougou-Zerelli
Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk of aneuploid gametes production. Besides the direct effect on the involved chromosomes, these rearrangements might disturb the segregation of other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers of translocations, four reciprocals and two Robertsonians, were investigated. In addition, seven fertile men with normal 46,XY karyotypes and normal sperm characteristics were enrolled as a control group...
January 15, 2018: Andrologia
https://www.readbyqxmd.com/read/29335103/new-objective-lens-density-quantification-method-using-swept-source-optical-coherence-tomography-technology-comparison-with-existing-methods
#16
Christophe Panthier, Justine Burgos, Helene Rouger, Alain Saad, Damien Gatinel
PURPOSE: To assess a new objective cataract grading method based on lens densitometry on swept-source optical coherence tomography (SS-OCT) scans provided by the IOLMaster 700. SETTINGS: Rothschild Foundation, Paris, France. DESIGN: Prospective case series. METHODS: All patients consulting for cataract evaluation who provided their consent to participate in the study were included. A history of eye surgery, corneal or retinal disorders, and ocular dryness were exclusion criteria...
December 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/29334667/lithium-a-classic-drug-in-psychiatry-improves-nilotinib-mediated-antileukemic-effects
#17
Janaína Peixoto-da-Silva, Andrana K Calgarotto, Katiucha R Rocha, Caroline Palmeira-Dos-Santos, Soraya S Smaili, Gustavo J S Pereira, Fernando V Pericole, Adriana da Silva S Duarte, Sara T O Saad, Claudia Bincoletto
Although Tyrosine kinase inhibitors (TKIs) that target Bcr-Abl play a key role in Chronic Myeloid Leukemia (CML) therapy, they do not eradicate CML-initiating cells, which lead to the emergence of drug resistance. Here we used the lithium, a GSK-3 inhibitor, to attempt to potentiate the effects of nilotinib against leukemia cells. For this purpose, a K562 leukemia cell line and bone marrow cells from untreated Chronic Myeloid Leukemia (CML) patients, prior to any exposure to TKIs, were used as a model. Our results demonstrated that the combination of lithium + nilotinib (L + N) induced K562-cell death and cleaved caspase-3 when compared to lithium or nilotinib alone, accompanied by GSK-3β phosphorylation and Bcr-Abl oncoprotein levels reduction...
January 12, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29332107/the-sleep-architecture-of-saudi-arabian-patients-with-kleine-levin-syndrome
#18
Saad M Al Shareef, Aljohara S Almeneessier, Omeima Hammad, Richard M Smith, Ahmed S BaHammam
To establish baseline sleep architecture during an acute attack of Kleine-Levin syndrome (KLS) in a cohort of Saudi Arabian KLS patients and compare these characteristics with other published cohorts. Methods: This was a retrospective cohort study of the polysomnographic characteristics of 10 typical symptomatic Saudi Arabian KLS patients attending the University Sleep Disorders Center, King Saud University, Riyadh, Saudi Arabia between 2002 and 2015. Data were captured by nocturnal polysomnography during an acute attack of hypersomnia and compared with other published cohorts identified via a systematic literature search...
January 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29331913/speciation-evolution-of-zinc-and-copper-during-pyrolysis-and-hydrothermal-carbonization-treatments-of-sewage-sludges
#19
Rixiang Huang, Bei Zhang, Emily M Saad, Ellery D Ingall, Yuanzhi Tang
Thermal and hydrothermal treatments are promising techniques for sewage sludge management that can potentially facilitate safe waste disposal, energy recovery, and nutrient recovery/recycling. Content and speciation of heavy metals in the treatment products affect the potential environmental risks upon sludge disposal and/or application of the treatment products. Therefore, it is important to study the speciation transformation of heavy metals and the effects of treatment conditions. By combining synchrotron X-ray spectroscopy/microscopy analysis and sequential chemical extraction, this study systematically characterized the speciation of Zn and Cu in municipal sewage sludges and their chars derived from pyrolysis (a representative thermal treatment technique) and hydrothermal carbonization (HTC; a representative hydrothermal treatment technique)...
January 4, 2018: Water Research
https://www.readbyqxmd.com/read/29331638/comparative-analysis-of-membrane-protein-structure-databases
#20
REVIEW
Kentaro Shimizu, Wei Cao, Gull Saad, Michiru Shoji, Tohru Terada
BACKGROUND: Membrane proteins play important roles in cell survival and cell communication, as they function as transporters, receptors, anchors and enzymes. They are also potential targets for drugs that block receptors or inhibit enzymes related to diseases. Although the number of known structures of membrane proteins is still small relative to the size of the proteome as a whole, many new membrane protein structures have been determined recently. SCOPE OF THE ARTICLE: We compared and analyzed the widely used membrane protein databases, mpstruc, Orientations of Proteins in Membranes(OPM), and PDBTM, as well as the extended dataset of mpstruc based on sequence similarity, the PDB structures whose classification field indicates that they are "membrane proteins" and the proteins with Structural Classification of Proteins (SCOP) class-f domains...
January 10, 2018: Biochimica et Biophysica Acta
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