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Simon S Rabinowitz, Neha Ahuja, Jennifer Gottfried
An 11-year-old Caucasian boy, with a microdeletion in the 1q21.1-q21.2 region, had multiple medical conditions including gastroparesis documented initially at the age of 5. The patient had a history of poor feeding since infancy and had been treated for gastro-oesophageal reflux disease (GERD), constipation and multiple food allergies. As a consequence of the GERD and his concurrent immunoglobulin (IgG) subclass deficiency, the patient had multiple otolaryngologic (ENT) infections and required two sinus surgeries...
March 15, 2018: BMJ Case Reports
Shree Pandya, Katherine A James, Christina Westfield, Shiny Thomas, Deborah J Fox, Emma Ciafaloni, Richard T Moxley
INTRODUCTION: As the DMD population ages, it is essential that we understand the late stage health profile and provide appropriate care to this emerging population. METHODS: A descriptive study to document the health profile of a cohort of adults with DMD using data from the Muscular Dystrophy Surveillance Tracking and Research network (MD STARnet). Data included information collected from Arizona, Colorado, Iowa, Georgia and 12 counties in western New York on individuals born since January 1982 and followed through December 2012...
March 15, 2018: Muscle & Nerve
Stephanie Elyse Ambrose, Julina Ongkasuwan, Kavita Dedhia, Gillian Ruth Diercks, Samantha Anne, Subhadra Shashidharan, Nikhila Raol
Importance: Vocal fold motion impairment (VFMI) is a known risk factor following congenital heart surgery (CHS). The impact of this diagnosis on utilization and outcomes is unknown. Objective: To evaluate the cost, postprocedure length of stay (PPLOS), and outcomes for neonates with VFMI after CHS. Design, Setting, and Participants: A cross-sectional analysis of the 2012 Kids' Inpatient Database (KID) of neonates who underwent CHS was carried out...
March 15, 2018: JAMA Otolaryngology—Head & Neck Surgery
Sameen Khalid, Aamer Abbass, Eric Nellis, Shashin Shah, Hiral Shah
Pancreatic pseudocysts and walled-off pancreatic necrosis arise as a complication of pancreatitis. Multiple fluid collections are seen in 5-20% of the patients who have walled-off peripancreatic fluid collections. There is a paucity of data regarding the role of endoscopic transmural drainage in the management of multiple pancreatic fluid collections. In this case report, we present the case of a 72-year-old male with three walled-off pancreatic fluid collections in the setting of acute necrotizing pancreatitis...
January 9, 2018: Curēus
Samuel Enumah, Elizabeth J Lilley, Stephanie Nitzschke, Adil H Haider, Ali Salim, Zara Cooper
BACKGROUND: Hospice improves quality and value of end of life care (EOLC), and enrollment has increased for older patients dying from chronic medical conditions. It remains unknown if the same is true for older patients who die after moderate to severe traumatic brain injury (msTBI). METHODS: Subjects included Medicare beneficiaries (≥65 years) who were hospitalized for msTBI from 2005 to 2011. Outcomes included intensity and quality of EOLC for decedents within 30 days of admission, and 30-day mortality for the entire cohort...
March 1, 2018: American Journal of Surgery
M Boyer, M Sowa, I Di Meo, S Eftekharian, M R Steenari, V Tiranti, J E Abdenur
Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2 S) detoxification. Patients present in infancy with hypotonia, developmental delay, diarrhea, orthostatic acrocyanosis and petechiae. Biochemical findings include elevated C4, C5 acylcarnitines and lactic and ethylmalonic acid (EMA) in body fluids. Current treatment modalities include metronidazole and N-acetylcysteine (NAC) to lower the production and promote detoxification of toxic H2 S...
February 14, 2018: Molecular Genetics and Metabolism
Heather Thomas, Julia Yole, Michael H Livingston, Karen Bailey, Brian H Cameron, Lisa VanHouwelingen
PURPOSE: The "cut and push" technique for removal of percutaneous endoscopic gastrostomy (PEG) tubes with collapsible bumpers offers an alternative to the standard traction method of removal. This study compared the outcomes of these techniques. METHODS: We completed a research ethics board-approved retrospective cohort study, identifying all patients less than 18years of age who underwent PEG tube removal at a children's hospital between December 2013 and December 2016...
February 8, 2018: Journal of Pediatric Surgery
Ana Agudo Tabuenca, Jara Altemir Trallero, José Antonio Gimeno Orna, María Julia Ocón Bretón
BACKGROUND: The percutaneous gastrostomy tube (PG) is an effective and safe way for the delivery of enteral nutrition. The aim of this study was to identify predictive factors for mortality after PG placement. MATERIAL AND METHODS: An observational and analytical cohort study was conducted. All endoscopic or radiological percutaneous gastrostomy tubes placed between January 2009 and July 2016 were evaluated. Mortality was the dependent variable. Initial clinical and analytical patient features and the development of complications during follow-up were recorded...
February 21, 2018: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
Ton Fang, Ahmad Al Khleifat, Jacques-Henri Meurgey, Ashley Jones, P Nigel Leigh, Gilbert Bensimon, Ammar Al-Chalabi
BACKGROUND: Riluzole is the only drug to prolong survival for amyotrophic lateral sclerosis (ALS) and, at a dose of 100 mg, was associated with a 35% reduction in mortality in a clinical trial. A key question is whether the survival benefit occurs at an early stage of disease, late stage, or is spread throughout the course of the disease. To address this question, we used the King's clinical staging system to do a retrospective analysis of data from the original dose-ranging clinical trial of riluzole...
March 7, 2018: Lancet Neurology
Sommer Nurkic, Tarik Nurkic, Christopher G Morris, Robert J Amdur, William M Mendenhall
OBJECTIVES: Examine the utility of pretreatment computed tomography in predicting local control (LC) in squamous cell carcinoma of the supraglottic larynx treated with primary radiotherapy (RT). METHODS: In total, 167 patients treated between 1983 and 2013 were reviewed. Patients had received pretreatment diagnostic computed tomographic imaging of the larynx and neck from which primary tumor volume (PrTV) was delineated. LC, larynx function at last follow-up, and RT complications were recorded...
March 8, 2018: American Journal of Clinical Oncology
Anija Orel, Matjaz Homan, Rok Blagus, Evgen Benedik, Rok Orel, Natasa Fidler Mis
Background: Commercial enteral formulas are generally recommended for gastrostomy feeding in patients with severe neurologic impairment. However, pureed food diets are still widely used and even gaining popularity among certain groups. We tried to compare the effectiveness of gastrostomy feeding for treatment of severe malnutrition with either enteral formulas or pureed feeds. Patients and methods: A 6-month nutritional intervention was made with 37 malnourished children, adolescents and young adults (2-26 years old) with severe neurologic impairment (Gross Motor Function Classification system [GMFCS] grade V)...
March 2018: Radiology and Oncology
Katharina Maria Lex, Firuzan Sari Kundt, Stefan Lorenzl
The inability to achieve adequate nutrition and weight loss are serious problems for patients with advanced Parkinson's disease (PD). To ensure the optimal intake of nutrition and fluids and to administer levodopa-carbidopa intestinal gel (LCIG) (which patients need to increase or maintain their mobility as long as possible), different artificial feeding tubes can be used. Although percutaneous endoscopic gastrostomy (PEG) tubes are frequently used in medical practice, there is little research that addresses key questions, including if and when to administer artificial fluids, nutrition and/or LCIG via tubes...
March 8, 2018: British Journal of Nursing: BJN
Lingli Fan, Jie Li, Miao Xiang, Li Yuan, Yu Zhang, Gang Feng, Xiaobo Du
Objective To investigate the attitudes of radiation oncologists towards using percutaneous endoscopic gastrostomy (PEG) to solve nutritional problems in patients with head and neck cancer (HNC) undergoing radiotherapy. Methods A self-reported questionnaire was developed and used to assess the willingness of radiation oncologists from 26 hospitals throughout several provinces in China to use the nutritional method. Results Of the 433 radiation oncologists who were contacted and returned questionnaires, 361 were completed correctly and used in the study (83...
January 1, 2018: Journal of International Medical Research
Jamil Shah, Tagore Sunkara, Krishna Sowjanya Yarlagadda, Prashanth Rawla, Vinaya Gaduputi
Percutaneous endoscopic gastrostomy (PEG) is a well-recognized procedure for providing enteral feeding and long-term enteral nutritional support. Although it is mostly well tolerated, complications, sometimes mechanical in nature, do occur. Rare, and often initially unrecognized, late complications of PEG tube placement are gastric outlet obstruction and duodenal obstruction. Simple adjustment of the gastrostomy tube will lead to the improvement of the patient's clinical condition and prevent further complications...
February 2018: Gastroenterology Research
K J Low, K Stals, R Caswell, M Wakeling, J Clayton-Smith, A Donaldson, N Foulds, A Norman, M Splitt, K Urankar, K Vijayakumar, A Majumdar, Ddd Study, S Ellard, S F Smithson
CHN is genetically heterogeneous and its genetic basis is difficult to determine on features alone. CNTNAP1 encodes CASPR, integral in the paranodal junction high molecular mass complex. Nineteen individuals with biallelic variants have been described in association with severe congenital hypomyelinating neuropathy, respiratory compromise, profound intellectual disability and death within the first year. We report 7 additional patients ascertained through exome sequencing. We identified 9 novel CNTNAP1 variants in 6 families: three missense variants, four nonsense variants, one frameshift variant and one splice site variant...
March 6, 2018: European Journal of Human Genetics: EJHG
Hisayuki Miyagi, Shohei Honda, Masahi Minato, Tadao Okada, Akinobu Taketomi
Background: Gastrostomy for feeding disorders or swallowing dysfunctions can be complicated by persistent gastrostomy site infection (PGSI). PGSI causes nutrient leakage, with dilated PGSI requiring gastrostomy reconstruction. The purpose of this study was to evaluate the causes, patient characteristics, and perioperative management of PGSI after Nissen fundoplication and gastrostomy for patients with gastro-oesophageal reflux. Patients and Methods: The records of all patients who underwent Nissen fundoplication and gastrostomy for gastro-oesophageal reflux over the past 12 years were retrieved...
April 2017: African Journal of Paediatric Surgery: AJPS
K Dunn, B Hamilton, A Burns
No abstract text is available yet for this article.
March 3, 2018: British Journal of Oral & Maxillofacial Surgery
Alexandru-Dan Sabău, Noor Hassan, Cătălin Gabriel Smarandache, Alin Miheţiu, Ștefan Ţîţu, Dan Sabău
PURPOSE: An original technique using laparoscopic instruments in a gastric endocavitary work chamber with potential for esophagus, stomach and D1 vizualisation. The main purpose of laparagastroscopy is to improve the quality of life of the patient disabling by the esophageal tumor. This method has several advantages: providing physiological feeding, harvesting materials for histopathological examination, solving eso-tracheal fistulas concurrently with the proposed operation and hemostatic role through compression, low energy and plastic consumption, rapid socio-economic reintegration, mental psychological care of the patient...
January 2018: Chirurgia
Rita de Sousa Gameiro, Ana Isabel Alves Reis, Ana Cristina Grilo, Carla Noronha
Mixed connective tissue disease (MCDT) is a rare condition characterised by the presence of high titres of anti-U1 ribonucleoprotein antibodies and selected clinical features of systemic lupus erythematosus, systemic sclerosis and polymyositis/dermatomyositis. Early symptoms are non-specific, including easy fatigability, myalgia, arthralgia and Raynaud's phenomenon. Some reports emphasised the favourable outcome and excellent response to glucocorticoids, but there are contradictory studies reporting worse prognosis...
March 5, 2018: BMJ Case Reports
Etienne St-Louis, Nadia Safa, Elena Guadagno, Robert Baird
BACKGROUND: Gastrostomy tubes are a common adjunct to the care of vulnerable pediatric patients. This study systematically evaluates the epidemiology and risk-factors for gastrocutaneous fistulae (GCF) after gastrostomy removal in children and reviews treatment options focusing on nonoperative management (NOM). METHODS: After protocol registration (CRD-42017059565), multiple databases were searched. Studies describing epidemiology in children and GCF treatment at any age were included...
February 8, 2018: Journal of Pediatric Surgery
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