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https://www.readbyqxmd.com/read/27936181/in-vivo-modelling-of-atp1a3-g316s-induced-ataxia-in-c-elegans-using-crispr-cas9-mediated-homologous-recombination-reveals-dominant-loss-of-function-defects
#1
Altar Sorkaç, Ivan C Alcantara, Anne C Hart
The NIH Undiagnosed Diseases Program admitted a male patient with unclassifiable late-onset ataxia-like symptoms. Exome sequencing revealed a heterozygous de novo mutation converting glycine 316 to serine in ATP1A3, which might cause disease. ATP1A3 encodes the Na+/K+ ATPase pump α3-subunit. Using CRISPR/Cas9-mediated homologous recombination for genome editing, we modelled this putative disease-causing allele in Caenorhabditis elegans, recreating the patient amino acid change in eat-6, the orthologue of ATP1A3...
2016: PloS One
https://www.readbyqxmd.com/read/27935170/ultrasound-of-oral-and-masticatory-muscles-why-every-neuromuscular-swallow-team-should-have-an-ultrasound-machine
#2
Lenie van den Engel-Hoek, Marloes Lagarde, Nens van Alfen
Patients with neuromuscular disorders often present with swallowing difficulties due to oral phase problems and pharyngeal residue after swallow. It is important to assess the underlying pathology and cause of the swallowing disturbance in this patient group, such as dystrophic changes in oral and masticatory muscles. This allows for more patient-tailored recommendations, for example optimal compensation strategies to maintain function for longer. Ultrasound can show structural changes caused by dystrophy or denervation of muscles, detect involuntary movements such as fasciculations, and provide dynamic video images of tongue motion during swallowing attempts...
December 9, 2016: Clinical Anatomy
https://www.readbyqxmd.com/read/27933139/the-neuromuscular-system-of-pycnophyes-kielensis-kinorhyncha-allomalorhagida-investigated-by-confocal-laser-scanning-microscopy
#3
Andreas Altenburger
BACKGROUND: Kinorhynchs are ecdysozoan animals with a phylogenetic position close to priapulids and loriciferans. To understand the nature of segmentation within Kinorhyncha and to infer a probable ancestry of segmentation within the last common ancestor of Ecdysozoa, the musculature and the nervous system of the allomalorhagid kinorhynch Pycnophyes kielensis were investigated by use of immunohistochemistry, confocal laser scanning microscopy, and 3D reconstruction software. RESULTS: The kinorhynch body plan comprises 11 trunk segments...
2016: EvoDevo
https://www.readbyqxmd.com/read/27931212/pdgf-aa-mediates-mesenchymal-stromal-cell-chemotaxis-to-the-head-and-neck-squamous-cell-carcinoma-tumor-microenvironment
#4
Tammara L Watts, Ruwen Cui, Peter Szaniszlo, Vicente A Resto, Don W Powell, Irina V Pinchuk
BACKGROUND: The robust desmoplasia associated with head and neck squamous cell carcinoma (HNSCC) suggests that the tumor microenvironment may be an important component in the pathophysiology of this cancer. Moreover, the high recurrence rate and poor clinical response to chemotherapy and radiation treatment further underscores that the non-cancerous cells of the microenvironment, such as mesenchymal stromal cells (MSCs), cancer associated fibroblasts (CAFs), and pericytes, may be important in the pathophysiology of HNSCC...
December 8, 2016: Journal of Translational Medicine
https://www.readbyqxmd.com/read/27930761/transoral-robotic-surgery-assisted-endoscopy-with-primary-site-detection-and-treatment-in-occult-mucosal-primaries
#5
Kyle M Hatten, Bert W O'Malley, Andres M Bur, Mihir R Patel, Christopher H Rassekh, Jason G Newman, Steven B Cannady, Ara A Chalian, Benjamin L Hodnett, Alexander Lin, John N Lukens, Roger B Cohen, Joshua M Bauml, Kathleen T Montone, Virginia A Livolsi, Gregory S Weinstein
Importance: Management of cervical lymph node metastasis without a known primary tumor is a diagnostic and treatment challenge for head and neck oncologists. Identification of the occult mucosal primary tumor minimizes the morbidity of treatment. Objective: To analyze the role of transoral robotic surgery (TORS) in facilitating the identification of a primary tumor site for patients presenting with squamous cell carcinoma of unknown primary (CUP). In addition, we assessed treatment deintensification by determining the number of patients who did not undergo definitive radiation therapy and chemotherapy...
December 8, 2016: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/27926789/characterization-of-the-oropharynx-anatomy-histology-immunology-squamous-cell-carcinoma-surgical-resection
#6
REVIEW
Croix C Fossum, Ashish V Chintakuntlawar, L Price, Joaquin J Garcia
Understanding the structure and function of the oropharynx is paramount to providing excellent patient care. In clinical oncology, the oropharynx is generally divided into four distinct components: (1) base of tongue, (2) soft palate, (3) palatine tonsillar fossa, and (4) pharyngeal wall. Oropharyngeal mucosa is distinct from other mucosal surfaces in the body since it is comprised of a reticulated epithelium with a discontinuous basement membrane, also known as lymphoepithelium. This review article describes the anatomy, histology, immunology and surgical resection of the oropharynx as it relates to oncologic care...
December 7, 2016: Histopathology
https://www.readbyqxmd.com/read/27925397/both-pharyngeal-and-esophageal-phases-of-swallowing-are-associated-with-recurrent-pneumonia-in-pediatric-patients
#7
Selen Serel Arslan, Numan Demir, Aynur Ayşe Karaduman
INTRODUCTION: One of the underlying causes of recurrent pneumonia in children is swallowing dysfunction, with aspiration syndrome. Swallowing dysfunction should be considered not only a problem of the oropharyngeal phase but also a problem of the esophageal phase. OBJECTIVES: This study aimed to determine the relationship between findings from a swallowing study and a history of recurrent pneumonia in pediatric patients. METHODS: A videofluroscopic swallowing study of 274 pediatric patients who had swallowing dysfunction was conducted...
December 7, 2016: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/27925348/factors-associated-with-efficacy-of-an-ibuprofen-pseudoephedrine-combination-drug-in-pharmacy-customers%C3%A2-with-common-cold-symptoms
#8
Ludger Klimek, Helmut Schumacher, Tanja Schütt, Heidemarie Gräter, Tobias Mueck, Martin C Michel
AIM: The aim of this study was to explore factors affecting efficacy of treatment of common cold symptoms with an over-the-counter ibuprofen/pseudoephedrine combination product. METHODS: Data from an anonymous survey among 1770 pharmacy customers purchasing the combination product for treatment of own common cold symptoms underwent post-hoc descriptive analysis. Scores of symptoms typically responsive to ibuprofen (headache, pharyngeal pain, joint pain and fever), typically responsive to pseudoephedrine (congested nose, congested sinus and runny nose), considered non-specific (sneezing, fatigue, dry cough, cough with expectoration) and comprising all 11 symptoms were analysed...
December 7, 2016: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/27924204/combined-use-of-a-double-lumen-tube-and-fogarty-catheter-to-prevent-the-endobronchial-spread-of-infection-a-case-report
#9
Jaewon Kim, Hyelim Lee, Han Park, Chang-Young Jeong
Huntington's disease is a neurodegenerative disorder with an autosomal dominant inheritance pattern. Patients with Huntington's disease show an increased risk of aspiration pneumonia when the pharyngeal muscle is invaded. We report a case of advanced-stage Huntington's disease in which the patient received right middle lobectomy for a lung abscess caused by repeated aspiration. The best lung isolation technique has not yet been established in these patients. We successfully performed selective lobar isolation of the right lower and middle lobes using a double lumen tube and a Fogarty embolectomy catheter...
December 2016: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/27920580/positive-clinical-outcomes-derived-from-using-streptococcus-salivarius-k12-to-prevent-streptococcal-pharyngotonsillitis-in-children-a-pilot-investigation
#10
Francesco Di Pierro, Maria Colombo, Alberto Zanvit, Amilcare S Rottoli
BACKGROUND: Streptococcus salivarius K12 (BLIS K12(®)) is a probiotic strain producing the bacteriocins salivaricin A2 and salivaricin B, both of which strongly antagonize the growth of Streptococcus pyogenes, the most important bacterial cause of pharyngeal infections in humans. It successfully colonizes and exhibits persistence in the oral cavity and is endowed with an excellent safety profile. Previous observations of a small group of children indicated that the use of BLIS K12 could also reduce the occurrence of viral pharyngitis...
2016: Drug, Healthcare and Patient Safety
https://www.readbyqxmd.com/read/27917295/circulating-human-papillomavirus-dna-detected-using-droplet-digital-pcr-in-the-serum-of-patients-diagnosed-with-early-stage-human-papillomavirus-associated-invasive-carcinoma
#11
Emmanuelle Jeannot, Véronique Becette, Maura Campitelli, Marie-Ange Calméjane, Emmanuelle Lappartient, Evelyne Ruff, Stéphanie Saada, Allyson Holmes, Dominique Bellet, Xavier Sastre-Garau
Specific human papillomavirus genotypes are associated with most ano-genital carcinomas and a large subset of oro-pharyngeal carcinomas. Human papillomavirus DNA is thus a tumour marker that can be detected in the blood of patients for clinical monitoring. However, data concerning circulating human papillomavirus DNA in cervical cancer patients has provided little clinical value, due to insufficient sensitivity of the assays used for the detection of small sized tumours. Here we took advantage of the sensitive droplet digital PCR method to identify circulating human papillomavirus DNA in patients with human papillomavirus-associated carcinomas...
October 2016: Journal of Pathology. Clinical Research
https://www.readbyqxmd.com/read/27913200/pharyngeal-swallowing-mechanics-secondary-to-hemispheric-stroke
#12
Nelson H May, Jessica M Pisegna, Sarah Marchina, Susan E Langmore, Sandeep Kumar, William G Pearson
BACKGROUND: Computational analysis of swallowing mechanics (CASM) is a method that utilizes multivariate shape change analysis to uncover covariant elements of pharyngeal swallowing mechanics associated with impairment using videofluoroscopic swallowing studies. The goals of this preliminary study were to (1) characterize swallowing mechanics underlying stroke-related dysphagia, (2) decipher the impact of left and right hemispheric strokes on pharyngeal swallowing mechanics, and (3) determine pharyngeal swallowing mechanics associated with penetration-aspiration status...
November 29, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27913095/soft-hard-tissues-and-pharyngeal-airway-volume-changes-following-maxillomandibular-transverse-osteodistraction-computed-tomography-and-three-dimensional-laser-scanner-evaluation
#13
Francesca Antonella Bianchi, Giovanni Gerbino, Marina Corsico, Eleonora Schellino, Niccolò Barla, Laura Verzè, Guglielmo Ramieri
INTRODUCTION: Maxillomandibular transverse osteodistraction (MMTOD) is an alternative approach to the traditional treatment for transverse maxillary and mandibular deficiencies and crowding. The aim was to report soft and hard-tissues changes and airway volume variation. METHODS: In this study, skeletally mature, non-syndromic patients with transverse maxillary and mandibular hypoplasia, who underwent a MMTOD between 2010 and 2012, were included. Surgical changes were analysed using clinical evaluation, three-dimensional facial surface data and computed tomography analysis before (T0) and after the completion of post-op orthodontic treatment (T1)...
October 18, 2016: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/27912986/a-phase-iii-observer-blind-randomized-controlled-study-to-evaluate-the-immune-response-and-the-correlation-with-nasopharyngeal-carriage-after-immunization-of-university-students-with-a-quadrivalent-meningococcal-acwy-glycoconjugate-or-serogroup-b-meningococcal
#14
Robert C Read, Peter Dull, Xilian Bai, Kate Nolan, Jamie Findlow, Rohit Bazaz, Annett Kleinschmidt, Maggie McCarthy, Huajun Wang, Daniela Toneatto, Ray Borrow
BACKGROUND: University students have high rates of pharyngeal carriage of Neisseria meningitidis. Interruption of carriage acquisition is an important mechanism of vaccines for inducing herd protection. 4CMenB and MenACWY-CRM vaccines have been shown to be immunogenic against meningococcal serogroups B and ACWY respectively in younger age groups, and also to elicit a modest impact on meningococcal carriage in vaccinated students. However, vaccine responses in university students and the impact of serum bactericidal antibody (SBA) titers on meningococcal carriage are undetermined...
November 29, 2016: Vaccine
https://www.readbyqxmd.com/read/27912214/common-cold-an-umbrella-term-for-acute-infections-of-nose-throat-larynx-and-bronchi
#15
P Kardos, F A Malek
Acute respiratory tract infections, i. e. rhinitis, sinusitis, pharyngitis, laryngitis, bronchitis, belong to the most common medical conditions with a high economic burden. Nonetheless, there is little agreement concerning their differential diagnosis.This paper will discuss to what extent different anatomical sites of acute respiratory tract infections can be uniquely identified or whether the overlap and consecutive development in signs and symptoms renders these distinctions meaningless.Acute respiratory tract infections are variable but definition of diagnostic categories based on the anatomical sites of the dominant complaints shows that signs and symptoms both overlap to a great extent and/or emerge successively...
December 2, 2016: Pneumologie
https://www.readbyqxmd.com/read/27907036/the-characteristic-of-s100a7-induction-by-the-hippo-yap-pathway-in-cervical-and-glossopharyngeal-squamous-cell-carcinoma
#16
Fei Kong, Yunguang Li, Enze Hu, Rui Wang, Junhao Wang, Jin Liu, Jinsan Zhang, Dacheng He, Xueyuan Xiao
S100A7 is expressed in many squamous cell carcinomas (SCCs). Our previous study revealed that S100A7 was dramatically induced in several SCC cells and activation of the Hippo pathway significantly promoted S100A7 in epidermoid carcinoma cells. However, whether the Hippo pathway regulates S100A7 expression in SCCs remains largely unknown. Here, we uncover that S100A7 induction by the Hippo-YAP pathway displays different characteristic in cervical and glossopharyngeal SCC. In well differentiated HCC94 cervical cells and FaDu pharyngeal cells, S100A7 is easily induced by both suspension and dense culture, which is accompanied by an increase in YAP phosphorylation and a decrease in nuclear YAP...
2016: PloS One
https://www.readbyqxmd.com/read/27905200/induced-sputum-to-detect-lung-pathogens-in-young-children-with-cystic-fibrosis
#17
Pamela D'Sylva, Daan Caudri, Nicole Shaw, Lidija Turkovic, Tonia Douglas, Jane Bew, Anthony D Keil, Stephen Stick, André Schultz
INTRODUCTION: Induced sputum sampling holds promise as a method for obtaining samples representative of the lower airways in young children. Collection of induced sputum samples in young children differs from older children and adults' as pharyngeal suctioning is often required. Our aim was to determine the sensitivity and specificity of induced sputum with and without airway clearance techniques to detect lower airway pathogens in children less than age 7 with cystic fibrosis. METHODS: Microbiological culture results were compared between 61 paired induced sputum and bronchoalveolar lavage fluid samples from young children with cystic fibrosis...
November 30, 2016: Pediatric Pulmonology
https://www.readbyqxmd.com/read/27904957/neck-pain-and-acute-dysphagia
#18
João Simões, José Romão, Anita Cunha, Sofia Paiva, António Miguéis
The acute tendinitis of the longus colli muscle is an unusual diagnosis in the cases of acute dysphagia with cervical pain. Is a self-limiting condition caused by abnormal calcium hydroxyapatite deposition in the prevertebral space and can cause pharyngeal swelling with impaired swallow. It is absolutely critical to make the differential diagnosis with deep cervical infections in order to avoid invasive treatments.
November 30, 2016: Dysphagia
https://www.readbyqxmd.com/read/27904911/effect-of-bihemispheric-anodal-transcranial-direct-current-stimulation-for-dysphagia-in-chronic-stroke-patients-a-randomized-clinical-trial
#19
Young Hyun Ahn, Hyun-Joo Sohn, Jin-Sung Park, Tae Gyu Ahn, Yong Beom Shin, Minsu Park, Sung-Hwa Ko, Yong-Il Shin
OBJECTIVE: To investigate whether bihemispheric anodal transcranial direct current stimulation (tDCS) with conventional dysphagia therapy could improve swallowing function in chronic stroke patients with dysphagia. DESIGN: Randomized controlled trial. SUBJECTS: Twenty-six patients with dysphagia for at least 6 months post-stroke were randomly assigned into: (i) bihemispheric anodal tDCS group; or (ii) sham group. METHODS: All patients underwent 10 tDCS sessions with simultaneous conventional swallowing therapy for 2 weeks...
November 30, 2016: Journal of Rehabilitation Medicine
https://www.readbyqxmd.com/read/27904020/is-the-ultimobranchial-body-a-reality-or-myth-a-study-using-serial-sections-of-human-embryos
#20
Yohei Honkura, Masahito Yamamoto, Toshihito Yoshimoto, Jose Francisco Rodriguez-Vazquez, Gen Murakami, Yukio Katori, Shin-Ichi Abe
Reported morphologies of the ultimobranchial body had varied between researchers: a cluster of mitotic cells, a duct-like structure and a rosette-like cell mass. To clarify the true morphology, we studied tilted horizontal sections of 20 human embryos (crown-rump length 5-18 mm; 4-6 weeks). The sections displayed a ladder-like arrangement of the second to fourth endodermal pouches and, in 5 early embryos we found the fifth pouch attached to the fifth ectodermal groove near the fourth pharyngeal arch artery...
2016: Okajimas Folia Anatomica Japonica
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