OtoRhinoLaryngology - Alexandros G. Sfakianakis
Activity of ceftazidime-avibactam against clinical and isogenic laboratory Pseudomonas aeruginosa isolates expressing combinations of most relevant {beta}-lactam resistance mechanisms. [PublishAheadOfPrint]: The activity of ceftazidime-avibactam was compared with that of ceftazidime alone and meropenem...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
In vitro activity of micafungin against common and rare Candida species with the EUCAST, CLSI and E-test method: Intra- and inter-laboratory agreement [PublishAheadOfPrint]: The emergence of resistant strains among common and rare Candida species necessitates continuous monitoring of in vitro susceptibility...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Connections Between Herpes Simplex Virus Type 1 and Alzheimer's Disease Pathogenesis: Alzheimer’s disease (AD) is currently one of the most studied neurodegenerative disorders in humans. First reported in 1907, the disease has a familial form which represents approximately 5% of cases, while the remaining,...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Trans-oral robotic surgery (TORS) for the treatment of lingual tonsillitis. When conventional therapies fail: AbstractBackgroundLingual tonsillitis is an underestimated but serious health problem. This paper describes the feasibility and efficacy of the trans-oral robotic surgical approach in cases of...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
[ΑΝΑΦΟΡΑ] Testing for clarithromycin hypersensitivity: A diagnostic challenge in childhoodO Cavkaytar, B Karaatmaca, EA Yilmaz… - The Journal of Allergy …, 2016 - jacionline.orgIn the case of clarithromycin hypersensitivity, the meaning of a positive intradermal test resultcan be doubtful, especially...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
FGFR-associated craniosynostosis syndromes and gastrointestinal defects: Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS), and Apert (AS) syndrome, with...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic: Hearing loss is a relatively common condition in children, occurring in approximately 2 out of every 1,000 births with approximately 50% of reported diagnoses having a primary genetic...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Syringomyelia in Hereditary Multiple Exostosis: We describe five children with Hereditary Multiple Exostosis (HME) who also had syringomyelia. Of these, four had a tethered cord/fibrolipoma. No spinal osteochondromas were found in these patients. All had antecedent neurological signs or symptoms that...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings: Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome, a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death by age 2 years....
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia....
OtoRhinoLaryngology - Alexandros G. Sfakianakis
of individuals with a childhood cancer: A group of patients who had cancer as a child were previously found to have distinct patterns of morphological abnormalities. In this study, we investigated the added value of 3D shape analysis to characterize their facial morphology. Primarily, we showed in an...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Kabuki syndromeFrom Wikipedia, the free encyclopediaKabuki syndromeA child with Kabuki syndrome displaying the typical facial featuresClassification and external resourcesSpecialtymedical geneticsICD-10Q87.0ICD-9-CM759.89OMIM147920DiseasesDB32161GeneReviewsKabuki SyndromeKabuki syndrome, also previously...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients: We have recently described a newly recognized syndromic form of congenital microcephaly as part of a large cohort of apparently novel dysmorphic...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
What is the best position for palatal implants? A CBCT study on bone volume in the growing maxilla: AbstractObjectiveThe objectives of the present study are the following: (a) to investigate limitations (bone height, proximity to nasopalatine nerve and roots) in juvenile patients, (b) to review the recommended...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
over India during summer monsoonsvia ScienceDirect Publication: Atmospheric EnvironmentPublication date: October 2016Source:Atmospheric Environment, Volume 142Author(s): K. Ravi Kumar, Vinu Valsala, Yogesh K. Tiwari, J.V. Revadekar, Prasanth Pillai, Supriyo Chakraborty, Raghu MurtuguddeIn a study based...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
A Comparative Study of Lung Host Defense in Murine Obesity Models. Insights into Neutrophil Function: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 188-200, August 2016. Niki D. J. Ubags, Elianne Burg, Maryellen Antkowiak, Aaron M. Wallace, Estee Dilli, Jenna Bement,Matthew...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Effect of Cocaine on Pulmonary Vascular Remodeling and Hemodynamics in Human Immunodeficiency Virus–Transgenic Rats: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 201-212, August 2016. Pranjali Dalvi, Leslie Spikes, Julie Allen, Vijayalaxmi G. Gupta, Himanshu Sharma, Marion...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 213-224, August 2016. Gerard W. Dougherty, Niki T. Loges, Judith A. Klinkenbusch, Heike Olbrich, Petra Pennekamp, Tabea...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Inhibition of Lipolysis Ameliorates Diabetic Phenotype in a Mouse Model of Obstructive Sleep Apnea: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 299-307, August 2016.Martin Weiszenstein, Larissa A. Shimoda, Michal Koc, Ondrej Seda, and Jan Polak "Inhibition of...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
A Recently Established Murine Model of Nasal Polyps Demonstrates Activation of B Cells, as Occurs in Human Nasal Polyps: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 170-175, August 2016. Dong-Young Kim, Sun Hye Lee, Roderick G. Carter, Atsushi Kato, Robert P....
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Weight Loss Decreases Inherent and Allergic Methacholine Hyperresponsiveness in Mouse Models of Diet-Induced Obese Asthma: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 176-187, August 2016. Jennifer L. Ather, Michael Chung, Laura R. Hoyt, Matthew J. Randall, Anna...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Heat Shock–Related Protein 20 Peptide Decreases Human Airway Constriction Downstream of β2-Adrenergic Receptor: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 225-233, August 2016. Alex Banathy, Joyce Cheung-Flynn, Kasia Goleniewska, Kelly L. Boyd, Dawn C. Newcomb, R....
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Plant growth promotion, metabolite production and metal tolerance of dark septate endophytes isolated from metal-polluted poplar phytomanagement sites: Numerous studies address the distribution and the diversity of dark septate endophytes (DSEs) in the literature, but little is known about their ecological...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
A rare case presentation: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchTashnin Rahman, Bhargaw Ilapakurty, Kaberi Kakati, Ashok Kumar Das, Amal Chandra Kataki.Primary nasopharyngeal tuberculosis (TB) is extremely rare. However, in endemic areas, isolated nasopharyngeal TB may present...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
A Case Report: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchRavikanth Reddy, Partha Sarathi Sarkar, Dedatta Hajari, Babu Phillip.Dengue viral infection is common worldwide associated with high morbidity and mortality. Encephalitis has been well reported and is thought...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
P-wave Abnormalities in Patients of Stable Chronic Obstructive Pulmonary Disease: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchSriharshavardhana SV, Malay Sarkar, Arvind kandoria, Rameshwar S Negi, Sunil Sharma.Introduction: COPD is a common preventable and treatable disease and a...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Microbial Colonization Profile of Respiratory Devices: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchKrutika Nitin Jamdar, Umesh Santlal Hassani.ABSTRACT:BACKGROUND: Approximately 10 -50% of all nosocomial infections are pulmonary, which lead to grave complications. Elderly, debilitated,...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
An Update on Periodontal diseases are a group of disorders characterized by an inflammatory reaction of periodontium induced by bacterial challenge leading to gingival inflammation, periodontal tissue destruction and alveolar bone loss. The use of naturally derived agents is becoming more common. Many...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Acute embolic cerebral ischemia as an initial presentation of Polycythemia Vera: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchChhatwani Chirag M, Gagiya Ashok K, Patel Ashish R, Maniya Chetan D.Introduction-Patients with Polycythemia vera (PV) are at high risk for vaso-occlusive events...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
A Study on Correlation of Carotid Intima and Media Thickness With Stress ECG and 2D Echo In Type 2 Diabetes Mellitus patients in Tertiary Care Hospital of Pune City: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchPradnya M Diggikar, Prasanna K Satpathy, Deepak D Baldania, Thakapalli...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Empirical Treatment in Clinically Diagnosed Cases of Vitamin B12 Deficiency: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchPulkit Modi, Vikki J Parikh.Background: Vitamin B12 deficiency may present with fatigue, weakness, numbness, decreased memory, irritability, confusion and depression,...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
A Clinical Study on Ear Trauma in South India: 2016-08-01T18-40-25ZSource: National Journal of Medical ResearchRahul Singh, Gopi Krishna Thota, Ravi Kumar Raju Mudunuri, Murthy M A N. Aim: To review about the presentations, types and aetiology of factors affecting ear trauma in patients of Konaseema...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Nanoparticle Delivers Cancer Drugs to Tumor Blood Vessels: In a set of studies in mice bearing human tumors, nanoparticles designed to bind to a protein called P-selectin successfully delivered both chemotherapy drugs and targeted therapies to tumor blood vessels. Targeting the blood vessels improved...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
The Pseudomonas aeruginosa extracellular secondary metabolite, Paerucumarin, chelates iron and is not localized to extracellular membrane vesicles: AbstractProteins encoded by the Pseudomonas aeruginosa pvcA-D operon synthesize a novel isonitrile functionalized cumarin termed paerucumarin. The pvcA-D...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Epidemiology and resistance features of Acinetobacter baumannii isolates from the ward environment and patients in the burn ICU of a Chinese hospital: AbstractAcinetobacter baumannii is an important opportunistic pathogen that causes severe nosocomial infections, especially in intensive care units (ICUs)....
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Rare human nerve growth factor-{beta} mutation reveals relationship between C-afferent density and acute pain evaluation: The rare nerve growth factor-β (NGFB) mutation R221W causes a selective loss of thinly myelinated fibers and especially unmyelinated C-fibers. Carriers of this mutation show altered...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
in rats: After naturalistic odor preference training, Ca2+/calmodulin-dependent protein kinase II (CaMKII) was rapidly phosphorylated in the olfactory bulb, specifically in the odor encoding regions of the glomerular layer and external plexiform layer. Intrabulbar CaMKII antagonist experiments revealed...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Saccadic adaptation to a systematically varying disturbance: Saccadic adaptation maintains the correct mapping between eye movements and their targets, yet the dynamics of saccadic gain changes in the presence of systematically varying disturbances has not been extensively studied. Here we assessed changes...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Visual-vestibular processing in the human Sylvian fissure: Unlike other sensory systems, the cortical organization of the human vestibular system is not well established. A central role is assumed for the region of the posterior Sylvian fissure, close to the posterior insula. At this site, activation...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Early PREdiction of Severe Sepsis (ExPRES-Sepsis) study: protocol for an observational derivation study to discover potential leucocyte cell surface biomarkers: IntroductionSepsis is an acute illness resulting from infection and the host immune response. Early identification of individuals at risk of...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Qualitative dimensions of exertional dyspnea in adults with cystic fibrosis: No studies of cystic fibrosis (CF) have systematically characterized the evolution of the qualitative dimensions of exertional dyspnea. Adults with CF (n = 25) and control individuals matched for sex, age, and body mass index...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Lab-on-a-chip based biosensor for via ScienceDirect Publication: TalantaPublication date: 1 November 2016Source:Talanta, Volume 160Author(s): Yıldız Uludag, Elif Esen, Guzin Kokturk, Hayrettin Ozer, Turghun Muhammad, Zehra Olcer, H. Imge Oktay Basegmez, Senay Simsek, Serkan Barut, M. Yagmur Gok, Mete...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
[Clinical Trials]: Pembrolizumab is well tolerated and active in patients with melanoma or NSCLC with brain metastases.
OtoRhinoLaryngology - Alexandros G. Sfakianakis
[Drug Combinations]: Combined inhibition of PI3K and mTORC1 abolished mTORC1 signaling, inducing tumor regression.
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Development of Anti-CD20 Antigen-Targeting Therapies for B-cell Lymphoproliferative Malignancies - The State of the Art: For decades, the available anticancer therapies were mostly based on nonspecific cytotoxic regimens. These cytostatic combinations, while effective in some subpopulations of patients,...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Tumor Stroma Manipulation By MSC: Tumor stroma (TS) plays relevant roles in all steps of cancer development. We here address several fundamental aspects related with the interaction between cancer cells and their stromal counterparts. Dissecting these players is of pivotal importance to understand oncogenesis,...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
in obese Zucker rats: Obesity leads to altered autonomic reflexes that reduce stability of mean arterial pressure (MAP). Sympathoinhibitory reflexes such as baroreflexes are impaired, but reflexes that raise MAP appear to be augmented. In obese Zucker rats (OZR) sciatic nerve stimulation evokes larger...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Cerebral blood flow regulation in women across menstrual phase: differential contribution of cyclooxygenase to basal, hypoxic, and hypercapnic vascular tone: In healthy young women, basal cerebral blood flow (CBF) and cerebrovascular reactivity may change across the menstrual cycle, but mechanisms remain...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
Long-lasting bradypnea induced by repeated social defeat: Repeated social defeat in the rat induces long-lasting cardiovascular changes associated with anxiety. In this study, we investigated the effects of repeated social defeat on breathing. Respiratory rate was extracted from the respiratory sinus...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
ctDNA dynamic patterns and response to TIL immunotherapy: Purpose:Adoptive transfer of activated autologous tumor-infiltrating lymphocytes (TIL) can mediate complete, durable regressions in patients with metastatic melanoma (MM). Responding patients generally do not have significant changes in non-cutaneous...
OtoRhinoLaryngology - Alexandros G. Sfakianakis
ctDNA dynamic patterns and response to TIL immunotherapy: Purpose:Adoptive transfer of activated autologous tumor-infiltrating lymphocytes (TIL) can mediate complete, durable regressions in patients with metastatic melanoma (MM). Responding patients generally do not have significant changes in non-cutaneous...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Voice rest is commonly recommended after phonomicrosurgery to prevent worsening of vocal fold injuries. However, the most effective duration of voice rest is unknown. Recently, early vocal stimulation was recommended as a means to improve wound healing. The purpose of this study is to examine the optimal...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Currently, there is no standardized German questionnaire to assess vocal tract discomfort in voice patients. The aim of this study was to evaluate the internal consistency, reliability, and validity of the German version of the Vocal Tract Discomfort (VTD) Scale. from Speech via a.lsfakia on Inoreader...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
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OtoRhinoLaryngology by Alexandros G.Sfakianakis
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OtoRhinoLaryngology by Alexandros G.Sfakianakis
Abstract Background A target-controlled infusion (TCI) of a propofol system uses a pharmacokinetic model to achieve and maintain a selected target blood propofol concentration. The aim of this study was to assess whether the propofol TCI system could be safely used by gastroenterologists in patients...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Abstract Purpose Persistent allergic rhinitis (PAR) is characterized by a chronic, eosinophilic inflammation with nasal congestion and rhinorrhea. Nasal congestion can constitute to sleep-disordered breathing problems that range from simple snoring to obstructive sleep apnea syndrome (OSAS). The purpose...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Introduction. A range of traumatic, vascular, inflammatory, infectious, and neoplastic processes can affect the orbit and its structures. In the area of otolaryngology, the rhino-orbital-cerebral involvement of invasive fungal rhinosinusitis can affect the orbit, which may look like initially a rhinosinusitis...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Publication date: October 2016Source:Oral Oncology, Volume 61 Author(s): Henri Schmidt, Arutha Kulasinghe, Liz Kenny, Chamindie Punyadeera Developing non-invasive diagnostic tools in the field of head and neck oncology has been a challenge. Analysis of circulating tumour derivatives in a patient's...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Abstract Connexin 26 (Cx-26), a gap junction protein coded by GJB2 gene, plays a very important role in recycling of potassium ions, one of the vital steps in the mechanotransduction process of hearing. Mutations in the GJB2 gene have been associated with both autosomal recessive as well as dominant...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Echolocation signals produced by beaked whales (family: Ziphiidae) include frequency-modulated (FM) pulses that appear to have species-specific characteristics. To date there has been no established evidence that a single species of beaked whale might produce more than one type of FM pulse. In 2014...
Ιατρικά Άρθρα Αλέξανδρος Γ. Σφακιανάκης
Eating more protein from plant sources was associated with a lower risk of death, and animal protein was associated with a higher risk of death, in people with at least one lifestyle risk factor such... from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2aYRixavia...
Ιατρικά Άρθρα Αλέξανδρος Γ. Σφακιανάκης
Taking high dose omega 3 fatty acids from fish oil improves heart muscle function and reduces cardiac scarring after a myocardial infarction (MI), a randomised trial has shown.1Previous studies have... from #AlexandrosSfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2aelG9qvia...
Κοσμητική ΟδοντοΙατρική
Abstract Objective The objectives of the present study are the following: (a) to investigate limitations (bone height, proximity to nasopalatine nerve and roots) in juvenile patients, (b) to review the recommended site for surgical insertion (level of the maxillary first premolars), and (c) to reassess...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Abstract Objective The objectives of the present study are the following: (a) to investigate limitations (bone height, proximity to nasopalatine nerve and roots) in juvenile patients, (b) to review the recommended site for surgical insertion (level of the maxillary first premolars), and (c) to reassess...
Αισθητική Δερματολογία
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OtoRhinoLaryngology by Alexandros G.Sfakianakis
Abstract Objective The objectives of the present study are the following: (a) to investigate limitations (bone height, proximity to nasopalatine nerve and roots) in juvenile patients, (b) to review the recommended site for surgical insertion (level of the maxillary first premolars), and (c) to reassess...
Αισθητική Δερματολογία
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OroFacial Medicine by Alexandros G.Sfakianakis
Abstract Objective The objectives of the present study are the following: (a) to investigate limitations (bone height, proximity to nasopalatine nerve and roots) in juvenile patients, (b) to review the recommended site for surgical insertion (level of the maxillary first premolars), and (c) to reassess...
OtoRhinoLaryngology by Alexandros G.Sfakianakis
Abstract Objective The objectives of the present study are the following: (a) to investigate limitations (bone height, proximity to nasopalatine nerve and roots) in juvenile patients, (b) to review the recommended site for surgical insertion (level of the maxillary first premolars), and (c) to reassess...
Thyroid Disorders by Alexandros G.Sfakianakis
Hearing loss is a relatively common condition in children, occurring in approximately 2 out of every 1,000 births with approximately 50% of reported diagnoses having a primary genetic etiology. Given the prevalence and genetic component of hearing loss, coupled with a trend toward early diagnosis...
Evolution of a gene
We have recently described a newly recognized syndromic form of congenital microcephaly as part of a large cohort of apparently novel dysmorphic syndromes. The reported Saudi Arabian patients have severe primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and renal agenesis....
Evolution of a gene
Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. SRD5A3 codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynthesis...
Evolution of a gene
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Evolution of a gene
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Evolution of a gene
A group of patients who had cancer as a child were previously found to have distinct patterns of morphological abnormalities. In this study, we investigated the added value of 3D shape analysis to characterize their facial morphology. Primarily, we showed in an objective and quantitative manner that...
Evolution of a gene
Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome characterized by an excessive prenatal and postnatal growth, macrosomia, macroglossia, and hemihyperplasia. The molecular basis of this syndrome is complex and heterogeneous, involving genes located at 11p15.5. BWS is correlated with assisted...
Evolution of a gene
Recessive mutations in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome, a phenotype characterized by neonatal microcephaly, hypertonia, and refractory epilepsy with premature death by age 2 years. Recently, attenuated disease variants have been described, suggesting that a wider...
Evolution of a gene
We describe five children with Hereditary Multiple Exostosis (HME) who also had syringomyelia. Of these, four had a tethered cord/fibrolipoma. No spinal osteochondromas were found in these patients. All had antecedent neurological signs or symptoms that prompted spinal imaging with MRI. Of all patients...
Evolution of a gene
Hearing loss is a relatively common condition in children, occurring in approximately 2 out of every 1,000 births with approximately 50% of reported diagnoses having a primary genetic etiology. Given the prevalence and genetic component of hearing loss, coupled with a trend toward early diagnosis...
Evolution of a gene
Chronic histiocytic intervillositis (CHI) is characterized by the presence of histiocytes within the intervillous space of the placenta. The pathogenesis is unclear but available evidence supports an alloimmune mechanism on the basis of the presence in maternal blood of HLA antibodies directed against...
Evolution of a gene
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Evolution of a gene
Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS), and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism,...
Evolution of a gene
Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo-obstruction (CIPO, MIM609629), and multisystemic smooth muscle dysfunction syndrome (MSMDS, MIM613834)....
Κοσμητική ΟδοντοΙατρική
Reduction malarplasty by bidirectional wedge ostectomy or two percutaneous osteotomies according to zygoma protrusion typeReduction malarplasty to correct prominent malar complex is popular in Asians. Despite the popularity of reduction malarplasty, most of the surgical methods applied are not selected...
OroFacial Medicine by Alexandros G.Sfakianakis
AbstractAimThe aim of this study was to evaluate the long-term clinical results around non-submerged implants placed after vertical alveolar ridge augmentation.Material and methodsThe original population consisted of two groups of partially edentulous patients (Clinical Oral Implants Research, 15, 2004,...
Medicine by Alexandros G.Sfakianakis
Abstract Accurate and precise glucose measurements are requisite for ensuring appropriate diagnosis and management of diseases related to hyperglycemia or hypoglycemia. It is necessary to have a higher order method to provide an accuracy base to which routine methods can be compared. We developed and...
Medicine by Alexandros G.Sfakianakis
Abstract A new sample extraction procedure based on micro-solid-phase extraction (μSPE) using a mixture of sorbents of different polarities (polymeric reversed-phase sorbent HLB, silica-based sorbent C18, and multiwalled carbon nanotubes) was applied to extract benzene, toluene, butyraldehyde, benzaldehyde,...
Medicine by Alexandros G.Sfakianakis
Decomposition of plant litter is a key process for the transfer of carbon and nutrients in ecosystems. Carbon contained in the decaying biomass is released to the atmosphere as respired CO2, and may contribute to global warming. Litterbag studies have been used to improve our knowledge of the drivers...
Λοίμωξη
A 54-YEAR-OLD MAN with a history of cirrhosis secondary to hepatitis C virus (HCV) infection has had a progressive decline in kidney function. He was diagnosed with hepatitis C 15 years ago; he tried... from Infection via ola Kala on Inoreader http://ift.tt/2aO4EwS via IFTTT
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TO THE EDITOR: I read... from Infection via ola Kala on Inoreader http://ift.tt/2aM0usQ via IFTTT
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IN REPLY: We thank Dr. Cunha for... from Infection via ola Kala on Inoreader http://ift.tt/2aM0etG via IFTTT
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Tissue Engineering Part A , Vol. 0, No. 0. from Biomedical Engineering via xlomafota13 on Inoreader http://ift.tt/2aNVb91 via IFTTT
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Therapeutic Hypothermia and Temperature Management , Vol. 0, No. 0. from Therapeutics via xlomafota13 on Inoreader http://ift.tt/2aw15tO
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Heat Shock–Related Protein 20 Peptide Decreases Human Airway Constriction Downstream of β2-Adrenergic Receptor: American Journal of Respiratory Cell and Molecular Biology, Volume 55, Issue 2, Page 225-233, August 2016. Alex Banathy, Joyce Cheung-Flynn, Kasia Goleniewska, Kelly L. Boyd, Dawn C. Newcomb, R....
Θεραπεία
Therapeutic Hypothermia and Temperature Management , Vol. 0, No. 0. from Therapeutics via xlomafota13 on Inoreader http://ift.tt/2aw15tO
Physiology by Alexandros G.Sfakianakis
Removing or adding sensory cues from one sensory system during standing balance causes a change in the contribution of the remaining sensory systems, a process referred to as sensory reweighting. While reweighting changes have been described in many studies under steady-state conditions, less is known...
Physiology by Alexandros G.Sfakianakis
Interactions with our environment require curved movements that depend not only on the final position of the hand but also on the path used to achieve it. Current studies in motor control, however, largely focus on point-to-point movements and do not consider how movements with specific desired trajectories...
Physiology by Alexandros G.Sfakianakis
Saccadic adaptation maintains the correct mapping between eye movements and their targets, yet the dynamics of saccadic gain changes in the presence of systematically varying disturbances has not been extensively studied. Here we assessed changes in the gain of saccade amplitudes induced by continuous...
Physiology by Alexandros G.Sfakianakis
After naturalistic odor preference training, Ca2+/calmodulin-dependent protein kinase II (CaMKII) was rapidly phosphorylated in the olfactory bulb, specifically in the odor encoding regions of the glomerular layer and external plexiform layer. Intrabulbar CaMKII antagonist experiments revealed that CaMKII...
Physiology by Alexandros G.Sfakianakis
Oscillations of neuronal activity in different frequency ranges are thought to reflect important aspects of cortical network dynamics. Here we investigate how various mechanisms that contribute to oscillations in neuronal networks may interact. We focus on networks with inhibitory, excitatory, and electrical...
Physiology by Alexandros G.Sfakianakis
Corticostriatal cocultures are utilized to recapitulate the cortex-striatum connection in vitro as a convenient model to investigate the development, function, and regulation of synapses formed between cortical and striatal neurons. However, optimization of this dissociated neuronal system to more closely...
Physiology by Alexandros G.Sfakianakis
Unlike other sensory systems, the cortical organization of the human vestibular system is not well established. A central role is assumed for the region of the posterior Sylvian fissure, close to the posterior insula. At this site, activation during vestibular stimulation has been observed in previous...
Physiology by Alexandros G.Sfakianakis
The rare nerve growth factor-β (NGFB) mutation R221W causes a selective loss of thinly myelinated fibers and especially unmyelinated C-fibers. Carriers of this mutation show altered pain sensation. A subset presents with arthropathic symptoms, with the homozygous most severely affected. The aim of the...
Physiology by Alexandros G.Sfakianakis
Neurophysiology requires an extensive workflow of information analysis routines, which often includes incompatible proprietary software, introducing limitations based on financial costs, transfer of data between platforms, and the ability to share. An ecosystem of free open-source software exists to...
Cancer
Purpose:Adoptive transfer of activated autologous tumor-infiltrating lymphocytes (TIL) can mediate complete, durable regressions in patients with metastatic melanoma (MM). Responding patients generally do not have significant changes in non-cutaneous RECIST targets before 30-60 days following TIL infusion,...
Cancer by Sfakianakis Alexandros
RANK expression is associated with poor prognosis in breast cancer even though its therapeutic potential remains unknown. RANKL and its receptor RANK are downstream effectors of the progesterone signaling pathway. However, RANK expression is enriched in hormone receptor negative adenocarcinomas suggesting...
Cancer by Sfakianakis Alexandros
Purpose:Adoptive transfer of activated autologous tumor-infiltrating lymphocytes (TIL) can mediate complete, durable regressions in patients with metastatic melanoma (MM). Responding patients generally do not have significant changes in non-cutaneous RECIST targets before 30-60 days following TIL infusion,...
Cancer by Sfakianakis Alexandros
Inflammatory myofibroblastic tumors (IMT) harbor mutations in nonsense-mediated RNA decay gene UPF1. from Cancer via ola Kala on Inoreader http://ift.tt/2aYKj7g via IFTTT
Cancer by Sfakianakis Alexandros
A phase I study indicates that the combination of utomilumab, an investigational antibody that binds CD137, plus pembrolizumab is safe and well tolerated, yielding sustained responses in patients with various solid cancers. from Cancer via ola Kala on Inoreader http://ift.tt/2aedINW via IFTTT
Cancer by Sfakianakis Alexandros
CRBN promotes CD147–MCT1-mediated antitumor activity in response to IMiDs. from Cancer via ola Kala on Inoreader http://ift.tt/2aYKek4 via IFTTT
Cancer by Sfakianakis Alexandros
For patients able to have surgery for pancreatic cancer, the adjuvant use of gemcitabine plus capecitabine, instead of gemcitabine alone, leads to a significant improvement in 5-year survival, according to results of the ESPAC-4 trial. The finding will likely change the standard of care for these patients....
Cancer by Sfakianakis Alexandros
Dopamine receptor D4 (DRD4) is a potential therapeutic target in glioblastoma stem cells. from Cancer via ola Kala on Inoreader http://ift.tt/2aYK3Fy via IFTTT
Cancer by Sfakianakis Alexandros
According to a meta-analysis of 351 phase I trials, choosing a therapy based on the abnormalities that drive a tumor yields higher response rates than therapeutic selections that aren't biomarker-driven. from Cancer via ola Kala on Inoreader http://ift.tt/2aee8Uu via IFTTT
Cancer by Sfakianakis Alexandros
TGFβ triggers RASSF1A ubiquitination to drive SMAD2-mediated transcription of TGFβ target genes. from Cancer via ola Kala on Inoreader http://ift.tt/2aYKLCN via IFTTT
Cancer by Sfakianakis Alexandros
Researchers have used mass spectrometry to conduct proteomic analyses of 77 genomically characterized breast tumors. Through this approach, they've uncovered functional consequences of somatic mutations. For instance, EGFR overexpression in basal-like breast cancer is potentially driven by the loss of...
Cancer by Sfakianakis Alexandros
Glioblastomas exhibit highly branched, treatment-specific clonal evolution patterns. from Cancer via ola Kala on Inoreader http://ift.tt/2arSA4V via IFTTT
Cancer by Sfakianakis Alexandros
A phase II study shows that DNA mismatch repair deficiency can render tumors highly sensitive to the PD-1 inhibitor pembrolizumab. Patients with a range of solid tumors, including colorectal and endometrial cancers, with the deficiency responded well and durably to immune checkpoint blockade, with minimal...
Cancer by Sfakianakis Alexandros
MART1-specific CTLs followed by ipilimumab induce durable tumor regression in patients with melanoma. from Cancer via ola Kala on Inoreader http://ift.tt/2aYK8ZO via IFTTT
Cancer by Sfakianakis Alexandros
Results from a phase II study indicate that the PD-L1 inhibitor atezolizumab, recently approved for advanced bladder cancer that's refractory to standard platinum chemotherapy, is effective as first-line therapy for this disease. Durable responses to atezolizumab were seen in nearly a quarter of the...
Cancer by Sfakianakis Alexandros
Calcium metabolism gene GPR68 mediates lenalidomide sensitivity in myelodysplastic syndrome (MDS). from Cancer via ola Kala on Inoreader http://ift.tt/2aqOrLF via IFTTT
Cancer by Sfakianakis Alexandros
Results from a randomized phase II study indicate that adding the experimental antibody IMAB362, which targets the tight junction protein claudin18.2, to standard chemotherapy is more effective than chemotherapy alone in previously untreated patients with advanced gastric cancer. IMAB362 extended progression-free...
Cancer by Sfakianakis Alexandros
A common motif likely promotes binding of substrates, including GSPT1, to cereblon. from Cancer via ola Kala on Inoreader http://ift.tt/2aqOWFg via IFTTT
Cancer by Sfakianakis Alexandros
A comprehensive analysis of data from The Cancer Genome Atlas has shed light on molecular-level differences between men and women with cancer. The study researchers separated 13 cancers into "strong" and "weak" sex-effect groups; cancers in the former showed extensive sex-biased molecular signatures,...
Cancer by Sfakianakis Alexandros
Accumulation of nuclear p62, driven by loss of autophagy, decreases chromatin ubiquitination. from Cancer via ola Kala on Inoreader http://ift.tt/2aqPr2m via IFTTT
Cancer by Sfakianakis Alexandros
Mutant DNMT3A promotes leukemogenesis via aberrant epigenetic induction of stem-cell genes. from Cancer via ola Kala on Inoreader http://ift.tt/2arSH0u via IFTTT
Cancer
Immune checkpoint blockade represents a major breakthrough in cancer therapy; however, responses are not universal. Genomic and immune features in pretreatment tumor biopsies have been reported to correlate with response in patients with melanoma and other cancers, but robust biomarkers have not been...
Cancer
Summary: Robust biomarkers of response that predict which patients will or will not respond to immune checkpoint blockade need to be identified. New data suggest that the presence of an adaptive immune signature in the tumor biopsies of patients with melanoma early on therapy compared to pretreatment...
Cancer
Tumors with elevated neoantigen-specific TILs lose expression of T cell–specific neoantigens. http://ift.tt/2aYKmjz
Cancer
Pembrolizumab is well tolerated and active in patients with melanoma or NSCLC with brain metastases. http://ift.tt/2aedqGF
Cancer
MART1-specific CTLs followed by ipilimumab induce durable tumor regression in patients with melanoma. http://ift.tt/2aYK8ZO
Cancer by Sfakianakis Alexandros
CRISPR/Cas9 has emerged as a powerful new tool to systematically probe gene function. We compared the performance of CRISPR to RNAi-based loss-of-function screens for the identification of cancer dependencies across multiple cancer cell lines. CRISPR dropout screens consistently identified more lethal...
Cancer by Sfakianakis Alexandros
Studying checkpoint blockers and other new immunotherapies is challenging in traditional mouse models because the animals lack B and T cells and have impaired innate immunity. To address these shortcomings, researchers are making progress in reconstituting the human immune system in immunodeficient mouse...
Cancer by Sfakianakis G.Alexandros
BACKGROUNDPatients covered by Medicaid insurance appear to have poorer cancer outcomes. Herein, the authors sought to test whether Medicaid was associated with worse outcomes among patients with head and neck cancer (HNC). METHODSThe records of 1698 patients with squamous cell HNC without distant metastatic...
Cancer by Sfakianakis G.Alexandros
BACKGROUNDAlthough the safety of combination chemotherapy without primary tumor resection (PTR) in patients with stage IV colon cancer has been established, questions remain regarding a potential survival benefit with PTR. The objective of this study was to compare mortality rates in patients who had...
Cancer by Sfakianakis G.Alexandros
BACKGROUNDWhether higher grade cervical intraepithelial neoplasia (CIN grade 2 or greater [CIN ≥ 2]) that develops because of human papillomavirus (HPV) genotypes not included in vaccines may progress to cervical cancer is largely unknown. The objectives of this study were to document expression of the...
Cancer by Sfakianakis G.Alexandros
BACKGROUNDThe clinical efficacy of hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (HCVAD) plus ponatinib has not been compared with that of HCVAD plus dasatinib in patients with Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) in a randomized clinical...
Cancer by Sfakianakis G.Alexandros
Abstract Purpose The aim of this study is to investigate the factors that influence implementation of Survivorship Care Plans (SCPs) in the intervention arm of the ROGY Care trial by (1) assessing the level of SCP receipt in the ROGY Care...
Cancer by Sfakianakis G.Alexandros
Abstract Purpose Data have demonstrated an association between regret and lack of fertility counseling among patients undergoing treatment for non-gynecologic cancers. We sought to determine if fertility-related regret is reduced with pre-treatment...
Cancer by Sfakianakis G.Alexandros
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Cancer by Sfakianakis G.Alexandros
Abstract Krüppel-like factor 8 (KLF8) is highly expressed in hepatocellular carcinoma (HCC) and contributes to tumor initiation and progression by promoting HCC cell proliferation and invasion. However, the role of KLF8 in liver cancer stem cells (LCSCs) is not known. In the current study, we investigated...
Cancer by Sfakianakis G.Alexandros
Abstract Genome-wide association studies have reported more than one hundred independent common loci associated with breast cancer risk. The contribution of low-frequency or rare variants to breast cancer susceptibility has not been well explored. Thus, we applied exome chip to genotype >200,000...
Cancer by Sfakianakis G.Alexandros
Abstract It is unclear if proximal and distal traditional adenomas present with differences in molecular events which contribute to cancer heterogeneity by tumor anatomical subsite. Participants from a colonoscopy-based study (n = 380) were divided into subgroups based on the location of their most...
Cancer by Sfakianakis G.Alexandros
Abstract Background A chronic inflammatory cell infiltrate is commonly seen in response to primary malignant tumours of bone. This is known to contain tumour-associated macrophages (TAMs) and lymphocytes; dendritic cells (DCs) and...
Cancer by Sfakianakis G.Alexandros
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Cancer by Sfakianakis G.Alexandros
Abstract We describe the series of iterative steps used to develop a smoking relapse-prevention intervention customized to the needs of cancer patients. Informed by relevant literature and a series of preliminary studies, an educational tool (DVD) was developed to target the unique...
Cancer by Sfakianakis G.Alexandros
Abstract The impact of oral pathogens onto the generation and variability of oral tumors has only recently been investigated. To get further insights, oral cancer cells were treated with pathogens and additionally, as a result of this bacterial cellular infection, with human defensins,...
Cancer by Sfakianakis G.Alexandros
Abstract Protein kinase C iota (PKCι) has been shown to play an important role in tumorigenesis of many cancers. It was reported that frequent amplification and overexpression of PKCi were correlated with resistance to anoikis in primary esophageal squamous cell carcinomas (ESCC)....
Cancer by Sfakianakis G.Alexandros
Abstract Several trials showed that tumour markers are associated with an impaired prognosis for breast cancer. Whether earlier treatment can improve the course of the disease remains controversial. The SUCCESS Trial compares FEC (500/100/500)-docetaxel (100) vs. FEC (500/100/500)-docetaxel/gemcitabine...
Cancer by Sfakianakis G.Alexandros
Abstract Glioma occurs due to multi-gene abnormalities. Neuropilin-1 (NRP-1), as a transmembrane protein, involves in glioma proliferation, invasion, and migration, as well as tumor angiogenesis. The cytoplasmic protein, GAIP/RGS19-interacting protein (GIPC1), could regulate the clathrin-vesicles...
Cancer by Sfakianakis G.Alexandros
Abstract Mucin-1 (MUC1) affects cancer progression in lung adenocarcinoma, and its aberrant expression pattern has been correlated with poor tumor differentiation and impaired prognosis. In this study, the immunohistochemical expression of MUC1 and Mucin-4 (MUC4) was analyzed in a...
Cancer by Sfakianakis G.Alexandros
Abstract The Rab family GTPases regulate many major biological processes during tumor progression such as cell proliferation, cytoskeleton organization, cell movement, and invasion. The present study aims to examine the clinical significance, biological roles, and molecular mechanism...
Cancer by Sfakianakis G.Alexandros
Abstract Purpose Reduced expression of miR-142-3p has been found to be associated with the development of various subtypes of myeloid leukemia, including acute promyelocytic leukemia (APL). In APL-derived cells, miR-142-3p expression can...
Cancer by Sfakianakis G.Alexandros
Abstract Purpose Activation of AMPK by the tumor suppressor LKB1 represents an essential gatekeeping step for cells under energetic stress to prevent their growth and proliferation by inhibiting mTOR activation, until the energy supply...
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