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https://www.readbyqxmd.com/read/28646128/%C3%AE-copi-mediates-the-retention-of-kae1-g701d-protein-in-golgi-apparatus-a-mechanistic-explanation-of-drta-associated-g701d-mutation
#1
Natapol Duangtum, Mutita Junking, Suratchanee Phadngam, Nunghathai Sawasdee, Andrea Castiglioni, Komgrid Charngkaew, Thawornchai Limjindaporn, Ciro Isidoro, Pa-Thai Yenchitsomanus
Mutations of solute carrier family 4 member 1 ( SLC4A1 ) gene encoding kidney anion (chloride/bicarbonate ion) exchanger 1 (kAE1) can cause genetic distal renal tubular acidosis (dRTA). Different SLC4A1 mutations give rise to mutant kAE1 proteins with distinct defects in protein trafficking. The mutant kAE1 protein may be retained in endoplasmic reticulum (ER), Golgi apparatus, or mis-targeted to the apical membrane, failing to display its function at the baso-lateral membrane. The ER-retained mutant kAE1 interacts with calnexin chaperone protein; disruption of this interaction permits the mutant kAE1 to reach the cell surface and display anion exchange activity...
June 23, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28644382/metal-ion-loaded-nanofibre-matrices-for-calcification-inhibition-in-polyurethane-implants
#2
Charanpreet Singh, Xungai Wang
Pathologic calcification leads to structural deterioration of implant materials via stiffening, stress cracking, and other structural disintegration mechanisms, and the effect can be critical for implants intended for long-term or permanent implantation. This study demonstrates the potential of using specific metal ions (MI)s for inhibiting pathological calcification in polyurethane (PU) implants. The hypothesis of using MIs as anti-calcification agents was based on the natural calcium-antagonist role of Mg(2+) ions in human body, and the anti-calcification effect of Fe(3+) ions in bio-prosthetic heart valves has previously been confirmed...
June 23, 2017: Journal of Functional Biomaterials
https://www.readbyqxmd.com/read/28644251/risk-factors-etiological-classification-topographical-location-and-outcome-in-medullary-infarctions
#3
Elif Gökçal, Gözde Baran, Elvin Niftaliyev, Vildan Güzel, Talip Asil
An understanding of the etiological mechanisms is important for therapeutic decisions and prognostic evaluation of patients with ischemic stroke. The object of this study was to evaluate the risk factors, etiological subtypes, and topography of lesion in patients with medullary infarctions (MIs). Besides, we also investigated early neurological deterioration, new vascular events, and functional outcome of all patients at 3-month follow-up. We analyzed our database consisting of patients who were diagnosed with acute MI and who were admitted within 24 hours of onset...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28643088/potential-therapeutic-applications-of-human-anti-m%C3%A3-llerian-hormone-amh-analogues-in-reproductive-medicine
#4
REVIEW
Vitaly A Kushnir, David B Seifer, David H Barad, Aritro Sen, Norbert Gleicher
Members of the transforming growth factor-beta (TGF-beta) superfamily are key regulators of various physiological processes. Anti-Müllerian hormone (AMH) which is also commonly known as Müllerian-inhibiting substance (MIS) is a member of the TGF-beta superfamily and an important regulator of reproductive organ differentiation and ovarian follicular development. While AMH has been used for diagnostic purposes as a biomarker for over 15 years, new potential therapeutic applications of recombinant human AMH analogues are now emerging as pharmacologic agents in reproductive medicine...
June 22, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28639045/passing-the-fundamentals-of-endoscopic-surgery-fes-exam-linking-specialty-choice-and-attitudes-about-endoscopic-surgery-to-success
#5
Aimee K Gardner, Michael B Ujiki, Brian J Dunkin
INTRODUCTION: Previous work has shown that up to 30% of graduating surgery residents fail the fundamentals of endoscopic surgery (FES) exam. This study investigated the extent to which FES pass rates differ in a specific sample of individuals who have chosen a career in GI surgery and to examine the relationships between FES performance and confidence in performing flexible endoscopy. METHODS: Fellows attending the 2016 SAGES Flexible Endoscopy Course were invited to complete the FES manual skills examination...
June 21, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28636211/resolution-of-donor-non-alcoholic-fatty-liver-disease-following-liver-transplantation
#6
Andrew D Posner, Samuel T Sultan, Norann A Zaghloul, William S Twaddell, David A Bruno, Steven I Hanish, William R Hutson, Laci Hebert, Rolf N Barth, John C LaMattina
INTRODUCTION: Transplant surgeons conventionally select against livers displaying high degrees (>30%) of macrosteatosis (MaS), out of concern for primary non-function or severe graft dysfunction. As such, there is relatively limited experience with such livers, and the natural history remains incompletely characterized. We present our experience of transplanted livers with high degrees of MaS and microsteatosis (MiS), with a focus on the histopathologic and clinical outcomes. METHODS: 29 cases were identified with liver biopsies available from both the donor and the corresponding liver transplant recipient...
June 21, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28636166/could-intradialytic-nutrition-improve-refractory-anaemia-in-patients-undergoing-haemodialysis
#7
Ahmad F Thabet, Sawsan M Moeen, Mohammed O Labiqe, Medhat A Saleh
BACKGROUND: This prospective randomised study was designed to evaluate the efficacy of intradialytic parenteral nutrition (IDPN) therapy in malnourished patients with refractory anaemia. METHODS: Forty patients who were malnourished with a BMI not greater than 23 (17-23) kg/m(2) , undergoing regular HD were included. Of those, 20 patients received 500-1000 ml of IDPN at a rate of 250-300 ml/h at each HD session three days per week for six consecutive months...
June 21, 2017: Journal of Renal Care
https://www.readbyqxmd.com/read/28635403/psychomotor-skills-assessment-by-motion-analysis-in-minimally-invasive-surgery-on-an-animal-organ
#8
Erlend Fagertun Hofstad, Cecilie Våpenstad, Lars Eirik Bø, Thomas Langø, Esther Kuhry, Ronald Mårvik
BACKGROUND: A high level of psychomotor skills is required to perform minimally invasive surgery (MIS) safely. To be able to measure these skills is important in the assessment of surgeons, as it enables constructive feedback during training. The aim of this study was to test the validity of an objective and automatic assessment method using motion analysis during a laparoscopic procedure on an animal organ. MATERIAL AND METHODS: Experienced surgeons in laparoscopy (experts) and medical students (novices) performed a cholecystectomy on a porcine liver box model...
February 8, 2017: Minimally Invasive Therapy & Allied Technologies: MITAT
https://www.readbyqxmd.com/read/28633018/chromosome-mis-segregation-generates-cell-cycle-arrested-cells-with-complex-karyotypes-that-are-eliminated-by-the-immune-system
#9
Stefano Santaguida, Amelia Richardson, Divya Ramalingam Iyer, Ons M'Saad, Lauren Zasadil, Kristin A Knouse, Yao Liang Wong, Nicholas Rhind, Arshad Desai, Angelika Amon
Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer. Changes in chromosome copy number have been proposed to drive disease by modulating the dosage of cancer driver genes and by promoting cancer genome evolution. Given the potential of cells with abnormal karyotypes to become cancerous, do pathways that limit the prevalence of such cells exist? By investigating the immediate consequences of aneuploidy on cell physiology, we identified mechanisms that eliminate aneuploid cells. We find that chromosome mis-segregation leads to further genomic instability that ultimately causes cell-cycle arrest...
June 19, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28632890/minimally-invasive-surgery-and-its-impact-on-30-day-postoperative-complications-unplanned-readmissions-and-mortality
#10
A Sood, C P Meyer, F Abdollah, J D Sammon, M Sun, S R Lipsitz, M Hollis, J S Weissman, M Menon, Q-D Trinh
BACKGROUND: A critical appraisal of the benefits of minimally invasive surgery (MIS) is needed, but is lacking. This study examined the associations between MIS and 30-day postoperative outcomes including complications graded according to the Clavien-Dindo classification, unplanned readmissions, hospital stay and mortality for five common surgical procedures. METHODS: Patients undergoing appendicectomy, colectomy, inguinal hernia repair, hysterectomy and prostatectomy were identified in the American College of Surgeons National Surgical Quality Improvement Program database...
June 20, 2017: British Journal of Surgery
https://www.readbyqxmd.com/read/28632751/owl2-benchmarking-for-the-evaluation-of-knowledge-based-systems
#11
Sher Afgun Khan, Muhammad Abdul Qadir, Muhammad Azeem Abbas, Muhammad Tanvir Afzal
OWL2 semantics are becoming increasingly popular for the real domain applications like Gene engineering and health MIS. The present work identifies the research gap that negligible attention has been paid to the performance evaluation of Knowledge Base Systems (KBS) using OWL2 semantics. To fulfil this identified research gap, an OWL2 benchmark for the evaluation of KBS is proposed. The proposed benchmark addresses the foundational blocks of an ontology benchmark i.e. data schema, workload and performance metrics...
2017: PloS One
https://www.readbyqxmd.com/read/28632565/neuroforaminal-bone-growth-following-minimally-invasive-transforaminal-lumbar-interbody-fusion-with-bmp-a-computed-tomographic-analysis
#12
Junyoung Ahn, Anton Y Jorgensen, Daniel D Bohl, Ehsan Tabaraee, Vincent J Rossi, Khaled Aboushaala, Kern Singh
STUDY DESIGN: Computed tomographic analysis. OBJECTIVE: To identify radiographic patterns of symptomatic neuroforaminal bone growth (NFB) in patients who have undergone a single-level minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF) augmented with bone morphogenetic proteins (BMP) utilizing computed tomography (CT). SUMMARY OF BACKGROUND DATA: BMP induces osteoblast differentiation leading to new bone formation. The association of BMP utilization and heterotopic bone formation after an MIS-TLIF has been described...
July 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28629412/cross-cultural-validation-of-health-literacy-measurement-tools-in-italian-oncology-patients
#13
Paola Zotti, Simone Cocchi, Jerry Polesel, Chiara Cipolat Mis, Donato Bragatto, Silvio Cavuto, Alice Conficconi, Carla Costanzo, Melissa De Giorgi, Christina A Drace, Federica Fiorini, Laura Gangeri, Andrea Lisi, Rosalba Martino, Paola Mosconi, Angelo Paradiso, Valentina Ravaioli, Ivana Truccolo, Paolo De Paoli
BACKGROUND: The aim of this study was to assess the psychometric characteristics of four Health Literacy (HL) measurement tools, viz. Newest Vital Sign (NVS), Short Test of Functional Health Literacy in Adults (STOFHLA), Single Item Literacy Screener (SILS) and Single question on Self-rated Reading Ability (SrRA) among Italian oncology patients. METHODS: The original version of the tools were translated from the English language into Italian using a standard forward-backward procedure and according to internationally recognized good practices...
June 19, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28628643/mis-targeting-of-the-mitochondrial-protein-lipt2-leads-to-apoptotic-cell-death
#14
Emanuele Bernardinelli, Roberta Costa, Giada Scantamburlo, Janet To, Rossana Morabito, Charity Nofziger, Carolina Doerrier, Gerhard Krumschnabel, Markus Paulmichl, Silvia Dossena
Lipoyl(Octanoyl) Transferase 2 (LIPT2) is a protein involved in the post-translational modification of key energy metabolism enzymes in humans. Defects of lipoic acid synthesis and transfer start to emerge as causes of fatal or severe early-onset disease. We show that the first 31 amino acids of the N-terminus of LIPT2 represent a mitochondrial targeting sequence and inhibition of the transit of LIPT2 to the mitochondrion results in apoptotic cell death associated with activation of the apoptotic volume decrease (AVD) current in normotonic conditions, as well as over-activation of the swelling-activated chloride current (IClswell), mitochondrial membrane potential collapse, caspase-3 cleavage and nuclear DNA fragmentation...
2017: PloS One
https://www.readbyqxmd.com/read/28624219/crispr-cas9-mediated-three-nucleotide-insertion-corrects-a-deletion-mutation-in-mrp1-abcc1-and-restores-its-proper-folding-and-function
#15
Qinqin Xu, Yue-Xian Hou, Xiu-Bao Chang
A three-nucleotide deletion in cystic fibrosis transmembrane conductance regulator/ATP-binding cassette transporter C7 (CFTR/ABCC7) resulting in the absence of phenylalanine at 508 leads to mis-fold of the mutated protein and causes cystic fibrosis. We have used a comparable three-nucleotide deletion mutant in another ABCC family member, multidrug resistance-associated protein (MRP1)/ABCC1, to determine whether CRISPR-Cas9-mediated recombination can safely and efficiently knock in three-nucleotide to correct the mutation...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28623968/oxygen-and-tissue-culture-affect-placental-gene-expression
#16
O Brew, M H F Sullivan
INTRODUCTION: Placental explant culture is an important model for studying placental development and functions. We investigated the differences in placental gene expression in response to tissue culture, atmospheric and physiologic oxygen concentrations. METHODS: Placental explants were collected from normal term (38-39 weeks of gestation) placentae with no previous uterine contractile activity. Placental transcriptomic expressions were evaluated with GeneChip(®) Human Genome U133 Plus 2...
July 2017: Placenta
https://www.readbyqxmd.com/read/28623239/-ccug-n-rna-toxicity-in-a-drosophila-model-for-myotonic-dystrophy-type-2-dm2-activates-apoptosis
#17
Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma García-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo López Castel, Ralf Krahe, Andreas Bergmann
The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions -- (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP Although transcription of mutant repeats into (CUG)DM1 or (CCUG)DM2 appears to be necessary and sufficient to cause disease, their pathomechanisms remain incompletely understood. To study the mechanisms of (CCUG)DM2 toxicity and develop a convenient model for drug screening, we generated a transgenic DM2 model in the fruit fly Drosophila melanogaster with (CCUG)n repeats of variable length (n=16 and 106)...
June 16, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28622902/a-critical-analysis-of-sagittal-plane-deformity-correction-with-minimally-invasive-adult-spinal-deformity-surgery-a-2-year-follow-up-study
#18
Gregory M Mundis, Jay D Turner, Vedat Deverin, Juan S Uribe, Pierce Nunley, Praveen Mummaneni, Neel Anand, Paul Park, David O Okonkwo, Michael Y Wang, Shay Bess, Adam S Kanter, Richard Fessler, Stacie Nguyen, Behrooz A Akbarnia
INTRODUCTION: Sagittal plane realignment is important to achieve desirable clinical outcomes after adult spinal deformity (ASD) surgery. This study evaluates the impact of minimally invasive (MIS) techniques on sagittal plane alignment and clinical outcomes in ASD patients. METHODS: A retrospective, multi-center review of ASD patients (age ≥18 years, and with one of the following: coronal Cobb ≥20°, sagittal vertical axis [SVA] >5 cm, and/or pelvic tilt >25°), MIS surgery, and four or more levels instrumented...
July 2017: Spine Deformity
https://www.readbyqxmd.com/read/28621798/the-relationship-of-serum-adipokines-with-malnutrition-inflammation-score-in-hemodialysis
#19
Elham Alipoor, Ahmad Esmaillzadeh, Mitra Mahdavi-Mazdeh, Mehdi Yaseri, Narges Sadat Zahed, Mohammad Javad Hosseinzadeh-Attar
BACKGROUND: Protein-energy wasting is a prevalent disorder in hemodialysis. Zinc-α2-glycoprotein (ZAG) and adipose triglyceride lipase (ATGL) are novel adipokines with recognized lipolytic effects and proposed role in metabolic homeostasis. This study was conducted to investigate the association of ZAG and ATGL concentrations with malnutrition inflammation score (MIS) and metabolic profile of patients with hemodialysis. MATERIALS AND METHODS: Eighty-eight patients under regular hemodialysis divided based on MIS to normal to mild wasting (NMW; n=35) or moderate wasting (MW; n=53) groups...
June 16, 2017: European Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28620497/painful-ovulation-in-a-46-xx-sry-ve-adult-male-with-sox9-duplication
#20
Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal...
2017: Endocrinology, Diabetes & Metabolism Case Reports
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