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https://www.readbyqxmd.com/read/29341216/primary-scarring-alopecia-a-retrospective-study-of-89-patients-in-taiwan
#1
Hsing-Jou Su, An-Yu Cheng, Cheng-Han Liu, Chia-Bau Chu, Chaw-Ning Lee, Chao-Kai Hsu, Julia Yu-Yun Lee, Chao-Chun Yang
Primary scarring alopecia (PSA) is caused by irreversible damage to the hair epithelial stem cells that reside in hair follicles. There is limited published work regarding PSA amongst the Asian population. The aim of this study was to evaluate the clinical features and to characterize the subtypes of PSA in southern Taiwan. In this retrospective case series, we reviewed 89 patients with pathology-confirmed PSA. The data was collected from National Cheng Kung University Hospital between 1988 through 2016. The clinical and histological data were reviewed, and the patients were characterized into different subtypes of PSA based on the clinical features and histological findings...
January 16, 2018: Journal of Dermatology
https://www.readbyqxmd.com/read/29339423/immune-protection-against-lethal-fungal-bacterial-intra-abdominal-infections
#2
Elizabeth A Lilly, Melanie Ikeh, Evelyn E Nash, Paul L Fidel, Mairi C Noverr
Polymicrobial intra-abdominal infections (IAIs) are clinically prevalent and cause significant morbidity and mortality, especially those involving fungi. Our laboratory developed a mouse model of IAI and demonstrated that intraperitoneal inoculation with Candida albicans or other virulent non-albicans Candida (NAC) species plus Staphylococcus aureus resulted in 70 to 80% mortality in 48 to 72 h due to robust local and systemic inflammation (sepsis). Surprisingly, inoculation with Candida dubliniensis or Candida glabrata with S...
January 16, 2018: MBio
https://www.readbyqxmd.com/read/29333908/false-positive-acetylcholine-receptor-antibodies-in-a-case-of-unilateral-chronic-progressive-external-ophthalmoplegia-case-report-and-review-of-literature
#3
Rehan Rajput, Amun Sachdev, Nizar Din, Erika Marie Damato, Aidan Murray
METHODS: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis. RESULTS: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis...
January 15, 2018: Orbit
https://www.readbyqxmd.com/read/29310369/mitochondrial-mutations-in-12s-rrna-and-16s-rrna-presenting-as-chronic-progressive-external-ophthalmoplegia-cpeo-plus-a-case-report
#4
Zhan-Yun Lv, Xue-Mei Xu, Xiao-Fu Cao, Qian Wang, Da-Fang Sun, Wen-Jing Tian, Yan Yang, Yu-Zhong Wang, Yan-Lei Hao
RATIONALE: Chronic progressive external ophthalmoplegia (CPEO) is a classical mitochondrial ocular disorder characterized by bilateral progressive ptosis and ophthalmoplegia. Kearns -Sayre syndrome (KSS) is a multisystem disorder with PEO, cardiac conduction block, and pigmentary retinopathy. A few individuals with CPEO have other manifestations of KSS, but do not meet all the clinical diagnosis criteria, and this is called "CPEO plus." PATIENT CONCERNS: We report a 48-year-old woman exhibiting limb weakness, ptosis, ophthalmoparesis, and cerebellar dysfunctions...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29310358/a-systematic-review-and-meta-analysis-of-robot-assisted-versus-laparoscopically-assisted-gastrectomy-for-gastric-cancer
#5
Yi Wang, Xudong Zhao, Yanjing Song, Aizhen Cai, Hongqing Xi, Lin Chen
BACKGROUND: Robotic-assisted gastrectomy (RAG) has been used for gastric cancer since 2002. This meta-analysis was carried out to evaluate whether RAG is safer and more effective than conventional laparoscopically assisted gastrectomy (LAG) for gastric cancer. METHODS: We performed a manual search for these 2 types of operations (RAG and LAG) in the PubMed, Embase, and the Cochrane Library databases up to April 30, 2016. Twelve nonrandomized controlled trials that reported on RAG and LAG for gastric cancer were included...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29298831/role-of-the-nf-%C3%AE%C2%BAb-family-member-relb-in-regulation-of-foxp3-regulatory-t-cells-in-vivo
#6
Junhui Li, Shuqiu Chen, Wenhao Chen, Qifa Ye, Yaling Dou, Yue Xiao, Lei Zhang, Laurie J Minze, Xian C Li, Xiang Xiao
The NF-κB family member RelB is an important transcription factor that is capable of regulating diverse immune and inflammatory responses. However, its role in the regulation of Foxp3+ regulatory T cells (Tregs) in vivo is poorly defined. In this study, we demonstrated that germline deletion of Relb resulted in systemic autoimmunity, which is associated with significant accumulation of Foxp3+ Tregs in lymphoid and nonlymphoid organs. Foxp3+ Tregs from RelB-deficient mice were functional and capable of suppressing T effector cells in vitro and in vivo, but Foxp3- T effector cells from RelB-deficient mice showed features of hyperactivation and spontaneously produced high levels of IL-2...
January 3, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29297283/r3d-blast2-an-improved-search-tool-for-similar-rna-3d-substructures
#7
Ching-Yu Yen, Jian-Cheng Lin, Kun-Tze Chen, Chin Lung Lu
BACKGROUND: RNA molecules have been known to play a variety of significant roles in cells. In principle, the functions of RNAs are largely determined by their three-dimensional (3D) structures. As more and more RNA 3D structures are available in the Protein Data Bank (PDB), a bioinformatics tool, which is able to rapidly and accurately search the PDB database for similar RNA 3D structures or substructures, is helpful to understand the structural and functional relationships of RNAs. RESULTS: Since its first release in 2011, R3D-BLAST has become a useful tool for searching the PDB database for similar RNA 3D structures and substructures...
December 28, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29291403/electrical-stimulation-as-a-conditioning-strategy-for-promoting-and-accelerating-peripheral-nerve-regeneration
#8
J L B Senger, V M K Verge, H S J Macandili, J L Olson, K M Chan, C A Webber
The delivery of a nerve insult (a "conditioning lesion") prior to a subsequent test lesion increases the number of regenerating axons and accelerates the speed of regeneration from the test site. A major barrier to clinical translation is the lack of an ethically acceptable and clinically feasible method of conditioning that does not further damage the nerve. Conditioning electrical stimulation (CES), a non-injurious intervention, has previously been shown to improve neurite outgrowth in vitro. In this study, we examined whether CES upregulates regeneration-associated gene (RAG) expression and promotes nerve regeneration in vivo, similar to a traditional nerve crush conditioning lesion (CCL)...
December 29, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/29288969/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-40-year-old-patient-with-the-a8344g-mutation-of-mitochondrial-dna-and-merrf-myoclonic-epilepsy-with-ragged-red-fibers-syndrome
#9
Yu-Ting Wu, Yu-Hung Hsu, Ching-Ying Huang, Ming-Ching Ho, Yu-Che Cheng, Cheng-Hao Wen, Hui-Wen Ko, Huai-En Lu, Yen-Chun Chen, Chia-Ling Tsai, Yi-Chao Hsu, Yau-Huei Wei, Patrick C H Hsieh
Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNALys gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient...
December 19, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29285400/structural-insight-into-the-ragulator-complex-which-anchors-mtorc1-to-the-lysosomal-membrane
#10
Zongkai Mu, Lei Wang, Wei Deng, Jiawei Wang, Geng Wu
The mechanistic target of rapamycin (mTOR) signal-transduction pathway plays a key role in regulating many aspects of metabolic processes. The central player of the mTOR signaling pathway, mTOR complex 1 (mTORC1), is recruited by the pentameric Ragulator complex and the heterodimeric Rag GTPase complex to the lysosomal membrane and thereafter activated. Here, we determined the crystal structure of the human Ragulator complex, which shows that Lamtor1 possesses a belt-like shape and wraps the other four subunits around...
2017: Cell Discovery
https://www.readbyqxmd.com/read/29284928/molecular-pathogenesis-and-diagnostic-imaging-of-metastatic-jaw-tumors
#11
REVIEW
Kenniyan Kumar Srichinthu, Arjun Parameshwar Raveendran, Periyasamy Tamilthangam, Joseph Joe, Charanya Duraisamy, Thukanayakanpalayam Ragunathan Yoithapprabhunath, Chitturi Ravi Teja
Metastasis is the spread of malignant cells from a primary tumor to distant sites through lymphatics or blood vessels. Malignant lesions metastasizing to the oral and perioral region are a rarity indeed. Malignant lesions could metastasize to both soft tissue of oral cavity and the hard tissues of the jaws and recent meta-analysis showed that metastasis is more common in the jaws than oral soft tissues because of rich vascular supply. The incidence is very low when compared to the incidence of primary oral cancers; nevertheless, one has to include in the diagnostic workup, metastatic malignant lesions, when an irregular ill-defined radiolucency or radiodensity with ragged edges in noted...
November 2017: Journal of Pharmacy & Bioallied Sciences
https://www.readbyqxmd.com/read/29275833/efficacy-against-human-prostate-cancer-by-prostate-specific-membrane-antigen-specific-transforming-growth-factor-%C3%AE-insensitive-genetically-targeted-cd8-t-cells-derived-from-patients-with-metastatic-castrate-resistant-disease
#12
Qiang Zhang, Brian T Helfand, Benedito A Carneiro, Weijun Qin, Ximing J Yang, Chung Lee, Weipeng Zhang, Francis J Giles, Massimo Cristofanilli, Timothy M Kuzel
Current immunotherapy has limited efficacy on metastatic castrate-resistant prostate cancer (mCRPC). We therefore sought to improve the antitumor ability of mCRPC patient-derived CD8+ T-cells by the endowment of specificity to prostate-specific membrane antigen (PSMA) and insensitivity to immunosuppressant molecule transforming growth factor-β (TGF-ß) under the control of herpes simplex virus-1 thymidine kinase. CD8+ T-cells were collected by leukapheresis and cultured in a Food and Drug Administration-approved Cell Processing Work Station...
December 21, 2017: European Urology
https://www.readbyqxmd.com/read/29243556/-preferences-of-aaa-aag-codon-recognition-by-modified-nucleosides-%C3%AF-m5s2u34-and-t6a37-present-in-trnalys
#13
Kailas D Sonawane, Asmita S Kamble, Prayagraj M Fandilolu
Deficiency of 5-taurinomethyl-2-thiouridine, τm5s2U at the 34th 'wobble' position in tRNALys causes MERRF (Myoclonic Epilepsy with Ragged Red Fibers), a neuromuscular disease. This modified nucleoside of mt tRNALys, recognizes AAA/AAG codons during protein biosynthesis process. Its preference to identify cognate codons has not been studied at the atomic level. Hence, multiple MD simulations of various molecular models of anticodon stem loop (ASL) of mt tRNALys in presence and absence of τm5s2U34 and N6-threonylcarbamoyl adenosine (t6A37) along with AAA and AAG codons have been accomplished...
December 15, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29241731/efficacy-of-lentiviral-mediated-gene-therapy-in-an-omenn-syndrome-rag2-mouse-model-is-not-hindered-by-inflammation-and-immune-dysregulation
#14
Valentina Capo, Maria Carmina Castiello, Elena Fontana, Sara Penna, Marita Bosticardo, Elena Draghici, Luigi P Poliani, Lucia Sergi Sergi, Rosita Rigoni, Barbara Cassani, Monica Zanussi, Paola Carrera, Paolo Uva, Kerry Dobbs, Nicolò Sacchetti, Luigi D Notarangelo, Niek P van Til, Gerard Wagemaker, Anna Villa
BACKGROUND: Omenn syndrome (OS) is a rare severe combined immunodeficiency associated with autoimmunity, caused by defects of the lymphoid-specific V(D)J recombination. Most patients carry hypomorphic mutations in recombination activating genes (RAG) 1 or 2. Hematopoietic stem cell (HSC) transplantation is the standard treatment, however gene therapy (GT) may represent a valid alternative, especially for patients lacking a matched donor. OBJECTIVE: To determine the efficacy of lentiviral vector (LV) mediated GT in the murine model of OS (Rag2R229Q/R229Q) in correcting immunodeficiency and autoimmunity...
December 11, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29232168/high-throughput-screening-approach-for-identifying-compounds-that-inhibit-nonhomologous-end-joining
#15
Andrea L Bredemeyer, Bruce S Edwards, Mark K Haynes, Abigail J Morales, Yinan Wang, Oleg Ursu, Anna Waller, Larry A Sklar, Barry P Sleckman
DNA double-strand breaks (DSBs) are repaired primarily by homologous recombination (HR) or nonhomologous end joining (NHEJ). Compounds that modulate HR have shown promise as cancer therapeutics. The V(D)J recombination reaction, which assembles antigen receptor genes in lymphocytes, is initiated by the introduction of DNA DSBs at two recombining gene segments by the RAG endonuclease, followed by the NHEJ-mediated repair of these DSBs. Here, using HyperCyt automated flow cytometry, we develop a robust high-throughput screening (HTS) assay for NHEJ that utilizes engineered pre-B-cell lines where the V(D)J recombination reaction can be induced and monitored at a single-cell level...
December 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/29220648/encoding-allostery-in-mtor-signaling-the-structure-of-the-rag-gtpase-ragulator-complex
#16
Jacqueline Cherfils
In this issue of Molecular Cell, Su et al. (2017) describe the structure of the Rag/Ragulator complex, a key relay in nutrient sensing by mTOR. The structure sheds new light on how signals are conveyed from the lysosome to mTOR.
December 7, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29220517/determining-the-effectiveness-of-three-gene-pyramids-against-aphis-glycines-hemiptera-aphididae-biotypes
#17
A J Varenhorst, S R Pritchard, M E O'Neal, E W Hodgson, A K Singh
Since the discovery of Aphis glycines Matsumura (Hemiptera: Aphididae) in the United States, the primary management tactic has been foliar insecticides. Alternative management options such as host plant resistance to A. glycines have been developed and their effectiveness proved. However, the use of host plant resistance was complicated by the discovery of multiple, virulent biotypes of A. glycines in the United States that are capable of overcoming single Rag genes, Rag1 and Rag2, as well as a two-gene pyramid of Rag1+Rag2...
December 5, 2017: Journal of Economic Entomology
https://www.readbyqxmd.com/read/29212906/osteoblasts-are-rapidly-ablated-by-virus-induced-systemic-inflammation-following-lymphocytic-choriomeningitis-virus-or-pneumonia-virus-of-mice-infection-in-mice
#18
Steven Maltby, Alyssa J Lochrin, Bianca Bartlett, Hock L Tay, Jessica Weaver, Ingrid J Poulton, Maximilian W Plank, Helene F Rosenberg, Natalie A Sims, Paul S Foster
A link between inflammatory disease and bone loss is now recognized. However, limited data exist on the impact of virus infection on bone loss and regeneration. Bone loss results from an imbalance in remodeling, the physiological process whereby the skeleton undergoes continual cycles of formation and resorption. The specific molecular and cellular mechanisms linking virus-induced inflammation to bone loss remain unclear. In the current study, we provide evidence that infection of mice with either lymphocytic choriomeningitis virus (LCMV) or pneumonia virus of mice (PVM) resulted in rapid and substantial loss of osteoblasts from the bone surface...
December 6, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29199950/ragulator-and-gator1-complexes-promote-fission-yeast-growth-by-attenuating-tor-complex-1-through-rag-gtpases
#19
Kim Hou Chia, Tomoyuki Fukuda, Fajar Sofyantoro, Takato Matsuda, Takamitsu Amai, Kazuhiro Shiozaki
TOR complex 1 (TORC1) is an evolutionarily conserved protein kinase complex that promotes cellular macromolecular synthesis and suppresses autophagy. Amino acid-induced activation of mammalian TORC1 is initiated by its recruitment to the RagA/B-RagC/D GTPase heterodimer, which is anchored to lysosomal membranes through the Ragulator complex. We have identified in the model organism Schizosaccharomyces pombe a Ragulator-like complex that tethers the Gtr1-Gtr2 Rag heterodimer to the membranes of vacuoles, the lysosome equivalent in yeasts...
December 4, 2017: ELife
https://www.readbyqxmd.com/read/29193829/riboflavin-transporter-deficiency-mimicking-mitochondrial-myopathy-caused-by-complex-ii-deficiency
#20
Graeme A M Nimmo, Resham Ejaz, Dawn Cordeiro, Peter Kannu, Saadet Mercimek-Andrews
Biallelic likely pathogenic variants in SLC52A2 and SLC52A3 cause riboflavin transporter deficiency. It is characterized by muscle weakness, ataxia, progressive ponto-bulbar palsy, amyotrophy, and sensorineural hearing loss. Oral riboflavin halts disease progression and may reverse symptoms. We report two new patients whose clinical and biochemical features were mimicking mitochondrial myopathy. Patient 1 is an 8-year-old male with global developmental delay, axial and appendicular hypotonia, ataxia, and sensorineural hearing loss...
November 30, 2017: American Journal of Medical Genetics. Part A
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