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https://www.readbyqxmd.com/read/29150892/expanding-the-neurodevelopmental-phenotype-of-pura-syndrome
#1
Bo Hoon Lee, Margot R F Reijnders, Oluwatobi Abubakare, Emily Tuttle, Brynn Lape, Kelly Q Minks, Christopher Stodgell, Loisa Bennetto, Jennifer Kwon, Chin-To Fong, Karen W Gripp, Eric D Marsh, Wendy E Smith, Ahm M Huq, Stephanie A Coury, Wen-Hann Tan, Orestes Solis, Rupal I Mehta, Richard J Leventer, Diana Baralle, David Hunt, Alex R Paciorkowski
PURA syndrome is a recently described developmental encephalopathy presenting with neonatal hypotonia, feeding difficulties, global developmental delay, severe intellectual disability, and frequent apnea and epilepsy. We describe 18 new individuals with heterozygous sequence variations in PURA. A neuromotor disorder starting with neonatal hyptonia, but ultimately allowing delayed progression to walking, was present in nearly all individuals. Congenital apnea was present in 56% during infancy, but all cases in this cohort resolved during the first year of life...
November 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29148256/toward-standardization-of-care-the-feeding-readiness-assessment-after-congenital-cardiac-surgery
#2
Daniel E Ehrmann, Matthew Mulvahill, Shaunda Harendt, Jessica Church, Amy Stimmler, Piyagarnt Vichayavilas, Sanja Batz, Jennifer Rodgers, Michael DiMaria, James Jaggers, Cindy Barrett, Jon Kaufman
BACKGROUND: Feeding practices after neonatal and congenital heart surgery are complicated and variable, which may be associated with prolonged hospitalization length of stay (LOS). Systematic assessment of feeding skills after cardiac surgery may earlier identify those likely to have protracted feeding difficulties, which may promote standardization of care. METHODS: Neonates and infants ≤3 months old admitted for their first cardiac surgery were retrospectively identified during a 1-year period at a single center...
November 17, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/29146179/soft-palate-reconstruction-after-radionecrosis-combined-anterolateral-thigh-adipofascial-and-nasoseptal-flaps
#3
Joseph Zenga, Jeffrey D Sharon, Jennifer Gross, Jay Gantz, Patrik Pipkorn
Although radiation-based treatment for nasopharyngeal cancer may achieve excellent long term oncologic results, late effects of therapy may lead to soft tissue radionecrosis and velopharyngeal insufficiency (VPI). Repair of these oro- and nasopharyngeal defects presents a complex reconstructive challenge. We present a case of a long-term survivor treated with chemoradiotherapy for nasopharyngeal cancer who developed progressive dysphagia, velopharyngeal insufficiency, and radionecrosis of the nasopharynx and soft palate, leading to tracheostomy and gastrostomy tube dependence...
November 13, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/29131450/potential-for-health-care-cost-savings-with-preoperative-gastrostomy-tube-placement-in-the-head-and-neck-cancer-population
#4
Ashley C Mays, Harrison G Bartels, Paul R Wistermayer, Matt L Rohlfing, Christopher M Gentile, Ralph D'Agostino, Joshua D Waltonen
BACKGROUND: The purpose of this study was to examine the cost differences between preoperative and postoperative placement of gastrostomy tubes (G-tubes) in patients with head and neck cancer. METHODS: We conducted a retrospective chart review of patients with aerodigestive tract cancers from 2010 to 2015. Data included inpatient and postdischarge costs, demographics, tumor characteristics, surgical treatment, length of stay (LOS), time spent in the intensive care unit (ICU), and readmissions...
November 13, 2017: Head & Neck
https://www.readbyqxmd.com/read/29129487/-evaluation-of-dysphagia-results-after-one-year-of-incorporating-videofluoroscopy-into-its-study-introduction
#5
Ruth García Romero, Ignacio Ros Arnal, María José Romea Montañés, José Antonio López Calahorra, Cristina Gutiérrez Alonso, Beatriz Izquierdo Hernández, Carlos Martín de Vicente
INTRODUCTION: Dysphagia is very common in children with neurological disabilities. These patients usually suffer from respiratory and nutritional problems. The videofluoroscopic swallowing study (VFSS) is the most recommended test to evaluate dysphagia, as it shows the real situation during swallowing. OBJECTIVES: To analyse the results obtained in our centre after one year of the implementation of VFSS, the clinical improvement after confirmation, and the prescription of an individualised treatment for the patients affected...
November 9, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/29124051/continuation-of-enteral-nutrition-and-relief-from-vomiting-by-administration-of-a-new-formula-a-case-report
#6
Tetsuro Akashi, Kazuhide Matsumoto, Risa Hashimoto
Gastro-esophageal reflux (GER) is a common and serious complication in patients receiving enteral nutrition, making continuation of enteral nutrition difficult. Semi-solid enteral nutrients were developed to prevent feeding-related GER. Semi-solid enteral nutrients have high viscosity and, therefore, are typically administered through a large-diameter percutaneous endoscopic gastrostomy (PEG) tube. Recently, a new formula (Mermed(®), Mermed Plus(®)) was introduced that uses alginate, which behaves like a gelatin in acidic conditions...
October 2017: Clinical Nutrition Research
https://www.readbyqxmd.com/read/29119320/total-or-subtotal-glossectomy-with-laryngeal-preservation-a-national-study-of-29-patients
#7
Harri Keski-Säntti, Leif Bäck, Patrik Lassus, Petri Koivunen, Ilpo Kinnunen, Henry Blomster, Antti A Mäkitie, Katri Aro
Total glossectomy remains a controversial procedure as it often leads to notorious sequalae in swallowing and speaking functions. Disease entities indicating total glossectomy tend to have poor prognosis. We evaluated whether this type of surgery can be concidered justified based on our national series. We reviewed all total and subtotal glossectomies with laryngeal preservation performed in Finland between 2005 and 2014 in terms of overall survival (OS), disease-specific survival (DSS), locoregional control (LRC), and functional outcome as assessed by gastric tube or tracheostomy dependence and ability to produce intelligible speech...
November 8, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29119032/cytomegalovirus-associated-duodenal-ulcer-and-duodenitis-in-a-malnourished-pediatric-patient
#8
Rachel Bernard, Ghanim Aljomah, Emily Klepper, Elizabeth McDonough
Cytomegalovirus (CMV) duodenitis is a rare occurrence, especially in pediatric patients. A thirteen-month-old female presented to the Emergency Department for a febrile seizure. She was incidentally admitted for severe malnutrition with an initial workup remarkable for only a slight elevation in her ALT at 48. The patient was found to have an oral aversion requiring nasogastric tube feeds for adequate caloric intake. She continued to fail to gain weight and underwent an EGD that demonstrated a duodenal ulcer...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29115367/bahng-score-predictive-model-for-detection-of-subjects-with-the-oropharynx-colonized-by-uncommon-microorganisms
#9
J González-Del Castillo, J Teja-Marina, F J Candel, J Barberán, A Moreno-Cuervo, F Chiarella, L López-González, P Ramos-Cordero, F J Martín-Sánchez
OBJECTIVE: Pneumonia is most frequently produced by the microaspiration of flora that colonizes the oropharynx. Etiological diagnosis of pneumonia is infrequent in clinical practise and empirical treatment should be prescribed. The aims of the present study were to determine the factors associated with oropharynx colonization by uncommon microorganisms (UM) and to develop a predictive model. METHODS: A cross-sectional study that included all pa-tients living in one long-term care facilities was developed...
November 6, 2017: Revista Española de Quimioterapia: Publicación Oficial de la Sociedad Española de Quimioterapia
https://www.readbyqxmd.com/read/29113003/-comparison-of-safety-insertion-techniques-of-percutaneous-endoscopic-gastrostomy-in-nurses-and-physicians-a-non-randomized-interventional-pilot-study-on-a-simulation-model
#10
Monika Engelke, Karl-Ernst Grund, Dieter Schilling, Ulrike Beilenhoff, Elisabeth Kern-Waechter, Olaf Engelke, Ferdinand Stebner, Christiane Kugler
Percutaneous endoscopic gastrostomy (PEG) insertion represents a standardized procedure for enteral nutrition in patients with long-term eating difficulties for various reasons. In a clinical setting, delegation of stomach puncture and placement of a PEG tube, within the context of percutaneous endoscopic gastrostomy amongst nurses, occurs. In Germany, there are no studies yet showing the differences between physicians and nurses regarding the safety of percutaneous stomach puncture.In a non-randomized quasi-experimental interventional study on a simulation model, the safety of stomach puncture within the context of percutaneous endoscopic gastrostomy between physicians and nurses with special training was compared...
November 7, 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29110572/tracheostomy-as-a-comfort-measure-in-children-with-life-limiting-conditions
#11
Valerie Marshall, Francesca Holt, Suzanne Crowe
Palliative care for children who can expect only a short life has expanded over the last decade. Greater understanding of the measures required to ensure comfort and acceptable quality of life within the critical care environment has grown in tandem. Some more invasive interventions may be considered a "step too far" by some practitioners, including feeding gastrostomy, contracture release, and tracheostomy. Tracheostomy can facilitate a number of measures, which may enhance the brief life of the child and their family...
January 1, 2017: Journal of Palliative Care
https://www.readbyqxmd.com/read/29107164/subarachnoid-hemorrhage-and-readmissions-national-rates-causes-risk-factors-and-outcomes-in-16-001-hospitalized-patients
#12
Kavelin Rumalla, Kyle A Smith, Paul M Arnold, Manoj K Mittal
INTRODUCTION: The acute complications of aneurysmal subarachnoid hemorrhage (aSAH) often lead to readmissions, which are linked to hospital reimbursement. The national rates, causes, risk factors, and outcomes associated with 30-day and 90-day readmission following aSAH have not previously been reported. METHODS: The Nationwide Readmissions Database was queried from January through September 2013 for all patients (age ≥ 18) with a diagnosis of aSAH. Data points included demographics, comorbidities, complications, and discharge outcomes...
October 26, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29106315/the-paradox-of-end-of-life-hospital-treatment-intensity-among-black-patients-a-retrospective-cohort-study
#13
Amber E Barnato, Chung-Chou H Chang, Judith R Lave, Derek C Angus
OBJECTIVE: Black patients are more likely than white patients to die in the hospital with intensive care and life-sustaining treatments and less likely to use hospice. Regional concentration of high end-of-life (EOL) treatment intensity practice patterns may disproportionately affect black patients. We calculated and compared race-specific hospital-level EOL treatment intensity in Pennsylvania. METHODS: We conducted a retrospective cohort analysis of Pennsylvania acute care hospital admissions, 2001-2007, among black and white admissions ≥21 years old at high probability of dying (HPD) (≥15% predicted probability of dying at admission)...
November 6, 2017: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29106286/duodenal-lengthening-in-an-adult-with-ultra-short-bowel-syndrome-a-case-report
#14
Javier Bueno, Rosa Burgos, Susana Redecillas, Manuel López, Joaquin Balsells
BACKGROUND: We have recently demonstrated the feasibility of lengthening the duodenum in children with short bowel syndrome and a dilated duodenum. This procedure gains additional intestinal length in a challenging area of autologous gut reconstruction. Herein, we report the successful application of this technique in an adult with ultra-short bowel syndrome. METHODS: A 25-year-old man with a history of mid-gut volvulus was referred to our center for intestinal transplant evaluation...
November 6, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29103742/percutaneous-endoscopic-gastrostomy-feeding-of-locally-advanced-oro-pharygo-laryngeal-cancer-patients-blenderized-or-commercial-food
#15
Pyrros Papakostas, Georgia Tsaousi, George Stavrou, Dimitrios Rachovitsas, Gavriil Tsiropoulos, Constantina Rova, Ioannis Konstantinidis, Antonios Michalopoulos, Vasilios Grosomanidis, Katerina Kotzampassi
OBJECTIVES: Head and neck cancer patients commonly suffer from severe malnutrition at the time of tentative diagnosis. Percutaneous Endoscopic Gastrostomy [PEG] feeding is now considered as an efficient tool to reduce nutritional deterioration alongside concurrent treatment. We undertook the challenge to retrospectively evaluate the impact of a commercial, disease-specific, feeding formula [Supportan, Fresenius Kabi, Hellas] versus blenderized family food on nutritional outcome. MATERIALS AND METHODS: This is a retrospective analysis of prospectively collected nutritional and anthropometric data at the time of PEG placement, at the 8th week [after treatment termination] and at 8 months [6mo of recovery from treatment]...
November 2017: Oral Oncology
https://www.readbyqxmd.com/read/29100903/value-of-antibiotic-prophylaxis-for-percutaneous-gastrostomy-a-double-blind-randomized-trial
#16
Christopher R Ingraham, Guy E Johnson, Emily L Albrecht, Siddharth A Padia, Eric J Monroe, Brandon C Perry, Ethan M Dobrow, Daniel S Hippe, Karim Valji
PURPOSE: To compare peristomal infection rates following percutaneous gastrostomy (PG) after a single dose of prophylactic antibiotics versus placebo and evaluate rates of peristomal infection in patients receiving concurrent antibiotics. MATERIALS AND METHODS: This single-center, randomized trial (2012-2016) enrolled 122 patients referred for image-guided PG; all enrolled patients completed the study. Of enrolled patients, 68 were randomly assigned to receive either antibiotics (n = 34) or placebo (n = 34) before PG placement...
November 1, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/29077663/anesthetic-management-of-a-patient-with-de-novo-hereditary-sensory-and-autonomic-neuropathy-type-vii-a-case-report
#17
Lorenzo Rafer, James Mooney
An 18-month-old patient with hereditary sensory and autonomic neuropathy, type VII undergoing general anesthesia for Nissen fundoplication and gastrostomy tube is presented. This is the first reported case of a patient with this particular genetic mutation receiving general anesthesia. We presented the major intraoperative events during the procedure. The anesthetic considerations and implications of caring for a patient with this particular mutation and patients with other variations of hereditary sensory and autonomic neuropathy are also discussed...
October 26, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/29076779/cigarette-smoking-and-outcomes-after-aneurysmal-subarachnoid-hemorrhage-a-nationwide-analysis
#18
Hormuzdiyar H Dasenbrock, Robert F Rudy, Pui Man Rosalind Lai, Timothy R Smith, Kai U Frerichs, William B Gormley, M Ali Aziz-Sultan, Rose Du
OBJECTIVE Although cigarette smoking is one of the strongest risk factors for cerebral aneurysm development and rupture, there are limited data evaluating the impact of smoking on outcomes after aneurysmal subarachnoid hemorrhage (SAH). Additionally, two recent studies suggested that nicotine replacement therapy was associated with improved neurological outcomes among smokers who had sustained an SAH compared with smokers who did not receive nicotine. METHODS Patients who underwent endovascular or microsurgical repair of a ruptured cerebral aneurysm were extracted from the Nationwide Inpatient Sample (NIS, 2009-2011) and stratified by cigarette smoking...
October 27, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29066662/dysphagia-management-in-bilateral-frontal-opercular-syndrome-foix-chavany-marie-syndrome
#19
Thomas Richards, Thomas Tudor Hughes, Jake Moss, Tessa Lomax
An 80-year-old woman was admitted to hospital with acute anarthria and severe dysphagia, characterised by loss of voluntary control of the muscles of facial expression, mastication, bolus manipulation (tongue) and pharyngeal constriction, with relative preservation of involuntary movements. Brain imaging revealed an acute infarct in the left frontal operculum and an area of gliosis consistent with an old infarct in the right frontal operculum. A clinical and radiological diagnosis of bilateral anterior frontal opercular syndrome (Foix-Chavany-Marie-syndrome) was made...
October 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29065369/the-fecal-microbiome-of-als-patients
#20
David Brenner, Andreas Hiergeist, Carolin Adis, Benjamin Mayer, André Gessner, Albert C Ludolph, Jochen H Weishaupt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative motor neuron disease accompanied by both systemic and central nervous system-specific inflammation as well as deregulated energy metabolism. These potential pathogenetic factors have recently been found to mutually interact with the gut microbiota, raising the hypothesis of a link between microbiome alterations and ALS pathogenesis. The aim of our study was to assess whether ALS is associated with an altered composition of the fecal microbiota...
October 3, 2017: Neurobiology of Aging
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