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https://www.readbyqxmd.com/read/28335020/znhit3-is-defective-in-peho-syndrome-a-severe-encephalopathy-with-cerebellar-granule-neuron-loss
#1
Anna-Kaisa Anttonen, Anni Laari, Maria Kousi, Yawei J Yang, Tiina Jääskeläinen, Mirja Somer, Eija Siintola, Eveliina Jakkula, Mikko Muona, Saara Tegelberg, Tuula Lönnqvist, Helena Pihko, Leena Valanne, Anders Paetau, Melody P Lun, Johanna Hästbacka, Outi Kopra, Tarja Joensuu, Nicholas Katsanis, Maria K Lehtinen, Jorma J Palvimo, Anna-Elina Lehesjoki
Progressive encephalopathy with oedema, hypsarrhythmia, and optic atrophy (PEHO) syndrome is an early childhood onset, severe autosomal recessive encephalopathy characterized by extreme cerebellar atrophy due to almost total granule neuron loss. By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome. ZNHIT3 encodes a nuclear zinc finger protein previously implicated in transcriptional regulation and in small nucleolar ribonucleoprotein particle assembly and thus possibly to pre-ribosomal RNA processing...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28331021/aspergillus-niger-infection-in-an-immunosuppressed-patient-confined-solely-to-the-brain
#2
Lucy Simmonds, Sian Mitchell, Barrie White, Shanika A Crusz, David Denning
A 68-year-old woman with a background of hypertension, stroke and rheumatoid arthritis presented to her local hospital after a 4-week history of gradual deterioration and increasing confusion with new onset right-sided weakness. Her initial CT scan revealed a rim enhancing mass lesion with surrounding oedema in the left parietal lobe for which she underwent CT stealth-guided biopsy. Microbiology culture of the 2 biopsy samples yielded Aspergillus niger and she was started on the antifungal agent voriconazole...
March 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28326192/differences-in-surgical-management-of-corneal-perforations-measured-over-six-years
#3
Katarzyna Krysik, Dariusz Dobrowolski, Anita Lyssek-Boron, Judyta Jankowska-Szmul, Edward A Wylegala
Purpose. To report the surgical approach, anatomical and functional results, and complications in the group of patients with corneal perforation. Materials and Methods. 247 eyes with corneal perforation were operated on between January 2010 and July 2016. The three surgical procedures, dependent on size and location of perforation, were performed: full-sized penetrating keratoplasty, corneoscleral patch graft, and anterior lamellar keratoplasty. The eyes underwent the minimum 6-month follow-up visit. Results...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28320557/study-of-light-scattering-using-c-quant-%C3%A2-in-patients-with-fuchs-endothelial-dystrophy-a-pilot-study
#4
B Castaño-Martín, J Gros-Otero, J Martínez, M Teus
OBJECTIVE: The purpose of this study was to determine the light scattering in patients with Fuchs' endothelial dystrophy without clinically significant corneal oedema, and evaluate its relationship with endothelial cell count, corneal thickness, and corneal biomechanical parameters. MATERIALS AND METHODS: The values of light scattering were measured by C-Quant(®) (Oculus Optikgeräte GmbH, Germany) in 32 eyes of 17 patients diagnosed with Fuchs' endothelial dystrophy without clinically significant corneal oedema...
March 17, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28318537/cardiac-magnetic-resonance-imaging-in-suspected-blunt-cardiac-injury-a-prospective-pilot-cohort-study
#5
Aidan Jc Burrell, David M Kaye, Mark C Fitzgerald, David J Cooper, James L Hare, Benedict T Costello, Andrew J Taylor
INTRODUCTION: The aim of this study was to evaluate the incidence and severity of blunt cardiac injury (BCI) as determined by cardiac magnetic resonance imaging (CMR), and to compare this to currently used diagnostic methods in severely injured patients. MATERIALS AND METHODS: We conducted a prospective, pilot cohort study of 42 major trauma patients from July 2013 to Jan 2015. The cohort underwent CMR within 7 days, enrolling 21 patients with evidence of chest injury and an elevated Troponin I compared to 21 patients without chest injury who acted as controls...
February 27, 2017: Injury
https://www.readbyqxmd.com/read/28318531/national-survey-on-postoperative-care-and-treatment-circuits-in-neurosurgery
#6
R Valero, E Carrero, N Fàbregas, F Iturri, N Saiz-Sapena, L Valencia
INTRODUCTION: The analysis of surgical processes should be a standard of health systems. We describe the circuit of care and postoperative treatment for neurosurgical interventions in the centres of our country. MATERIAL AND METHODS: From June to October 2014, a survey dealing with perioperative treatments and postoperative circuits after neurosurgical procedures was sent to the chiefs of Anaesthesiology of 73 Spanish hospitals with neurosurgery and members of the Neuroscience Section of SEDAR...
March 16, 2017: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/28318453/helicobacter-pylori-in-the-tonsillar-tissue-a-possible-association-with-chronic-tonsillitis-and-laryngopharyngeal-reflux
#7
N Siupsinskiene, I Katutiene, V Jonikiene, D Janciauskas, S Vaitkus
OBJECTIVE: To identify Helicobacter pylori infection in tonsillar tissue samples from patients undergoing tonsillectomy for chronic tonsillitis versus tonsillar hypertrophy, and to assess the possible relationships between H pylori and patients' sociodemographic data and laryngopharyngeal reflux. METHODS: In this prospective study, 97 patients who underwent tonsillectomy were divided into the following 2 groups: patients with chronic tonsillitis (n = 62) and patients with tonsillar hypertrophy (control group; n = 35)...
March 20, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28318344/clinical-outcomes-of-intravitreal-preservative-free-triamcinolone-preparation-triesence%C3%A2-for-cystoid-macular-oedema-and-inflammation-in-patients-with-uveitis
#8
Laura R Steeples, Nitin Anand, Jiten Moraji, Nicholas P Jones
PURPOSE: To assess the outcomes of intravitreal benzyl alcohol-free triamcinolone acetonide suspension in uveitis-related macular oedema. METHODS: Single-center retrospective cohort study of 66 injections to 44 eyes of 40 patients. Uveitis diagnosis, systemic and local therapy, intraocular pressure (IOP), central retinal thickness (CRT), number of injections, time to re-injection and side-effects were noted during 6-months minimum follow-up. RESULTS: Sixty eight percent of eyes received a single injection...
March 20, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28316407/theileria-annulata-induced-brisket-oedema-in-a-bull-and-its-successful-treatment
#9
B Sudhakara Reddy, S Sivajothi
In the present case, jugular vein engorgement and oedema of the brisket region which mimic the signs of pseudopericarditis due to theileriosis in a bull was reported. An adult Ongole crossbred bull with history of weakness, anorexia and oedema at brisket region was referred to Teaching Veterinary Clinical Complex, College of Veterinary Science, Proddatur. Physical examination revealed the presence of ticks over the body, right and left prescapular lymphadenopathy and oedema at brisket region. Blood examination revealed the presence of piroplasms in erythrocytes, schizont in lymphocytes, anaemia and lymphopenia...
March 2017: Journal of Parasitic Diseases: Official Organ of the Indian Society for Parasitology
https://www.readbyqxmd.com/read/28314688/nivolumab-treatment-for-oesophageal-squamous-cell-carcinoma-an-open-label-multicentre-phase-2-trial
#10
Toshihiro Kudo, Yasuo Hamamoto, Ken Kato, Takashi Ura, Takashi Kojima, Takahiro Tsushima, Shuichi Hironaka, Hiroki Hara, Taroh Satoh, Satoru Iwasa, Kei Muro, Hirofumi Yasui, Keiko Minashi, Kensei Yamaguchi, Atsushi Ohtsu, Yuichiro Doki, Yuko Kitagawa
BACKGROUND: Nivolumab is a human monoclonal IgG4 antibody that inhibits programmed cell death protein 1 (PD-1) expressed on activated T cells. We investigated the safety and activity of nivolumab in patients with treatment-refractory oesophageal cancer. METHODS: We did an open-label, single-arm, multicentre phase 2 study. Eligible patients had advanced squamous-cell carcinoma, adenosquamous-cell carcinoma, or adenocarcinoma of the oesophagus refractory or intolerant to fluoropyrimidine-based, platinum-based, and taxane-based chemotherapy...
March 14, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28303988/cystoid-macular-oedema-after-phacoemulsification-with-and-without-type-2-diabetes-mellitus-a-hospital-based-clinical-prospective-trial-in-karachi
#11
Abdul Haleem, Adil Saleem, Saleh Memon, Nasir Memon, Muhammad Faisal Fahim
OBJECTIVE: To know the outcomes of cystoid macular oedema after phacoemulsification in patients with and without type 2 diabetes mellitus using optical coherence tomography. METHODS: This non-concurrent, clinical, prospective study was carried out at Al-Ibrahim Eye Hospital, Karachi, from January to August 2015. After phacoemulsification with injectable posterior chamber intraocular lens implantation, eyes of patients were analysed. The patients were divided into diabetic and non-diabetic groups visual acuity, optical coherence tomography and dilated fundus examination were performed preoperatively (baseline) and post-operative 1st week and 6th week...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28301852/high-fat-diet-in-the-absence-of-obesity-does-not-aggravate-surgically-induced-lymphoedema-in-mice
#12
Epameinondas Gousopoulos, Sinem Karaman, Steven T Proulx, Kristin Leu, Dorina Buschle, Michael Detmar
BACKGROUND: Lymphoedema represents the cardinal manifestation of lymphatic dysfunction and is associated with expansion of the adipose tissue in the affected limb. In mice, high-fat diet (HFD)-induced obesity was associated with impaired collecting lymphatic vessel function, and adiposity aggravated surgery-induced lymphoedema in a mouse model. The aim of the current study was to investigate whether adiposity is necessary to impair lymphatic function or whether increased lipid exposure alone might be sufficient in a surgical lymphoedema model...
March 17, 2017: European Surgical Research. Europäische Chirurgische Forschung. Recherches Chirurgicales Européennes
https://www.readbyqxmd.com/read/28299538/decompressive-surgery-in-malignant-cerebral-venous-sinus-thrombosis-what-predicts-its-outcome
#13
Rohan Mahale, Anish Mehta, Ravi Gopal Varma, Alangar S Hegde, Purushottam T Acharya, Rangasetty Srinivasa
Cerebral venous sinus thrombosis (CVST) is common in Asians, accounting for 15% of all strokes in the young. CVST causing malignant cerebral oedema with brain herniation and death are referred as malignant CVST. This study was aimed at evaluating the outcome of patients and factors predicting the outcome with malignant CVST after decompressive surgery. It was a retrospective, observational, single centre, hospital-based and cross-sectional study. Records of patients with malignant CVST who had decompressive surgery were analysed...
March 16, 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28298792/comparison-of-king-vision-and-truview-laryngoscope-for-postextubation-visualization-of-vocal-cord-mobility-in-patients-undergoing-thyroid-and-major-neck-surgeries-a-randomized-clinical-trial
#14
Anto Sahaya Priyanka, Kusha Nag, V R Hemanth Kumar, Dewan Roshan Singh, Senthil Kumar, T Sivashanmugam
BACKGROUND: Visualization of vocal cords following extubation after thyroid and major neck surgeries is highly desirable for the surgeon as well as the anaesthesiologist to rule out vocal cord palsy or oedema. As the patient is emerging from general anaesthesia, it may be challenging for the anaesthesiologist to optimally visualise and grade vocal cord movement following extubation. SETTING: Randomized clinical trial at a tertiary care centre. METHODOLOGY: After obtaining institutional ethics committee approval, 60 patients posted for thyroid and major neck surgeries under American Society of Anesthesiologists (ASA) grade I and II were recruited for the study...
January 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28298380/oral-sweet-s-syndrome-occurring-in-ulcerative-colitis
#15
Laura Aisling Nestor, Anne-Marie Tobin
A man aged 78 years presented with a 3-week history of tender mouth ulceration associated with arthralgia and weight loss. He had ulcerative colitis that was diagnosed 10 years previously which was well controlled on adalimumab 40 mg fortnightly. Biochemical and haematological investigations showed raised inflammatory markers (CRP 105) and a marked neutrophilia (10). On examination, the patient had severe oral ulceration involving the anterior tongue and lips. In addition, on cutaneous examination had tender erythematous nodules involving the forehead...
March 15, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28296647/intra-and-inter-rater-reliability-of-lower-leg-waterplethysmography-bioelectrical-impedance-and-muscle-twitch-force-for-the-use-in-standing-work-evaluation
#16
Rudolf Wall, Oliwia Lips, Robert Seibt, Monika Rieger, Benjamin Steinhilber
OBJECTIVES: Prolonged standing is associated with multiple risk factors for musculoskeletal and venous disorders. Basic understanding of prolonged standing physiology is lacking. We therefore plan to investigate the influence of multiple hours standing on lower limb oedema measured by waterplethysmography (WP) and bioelectrical impedance (BI) and lower leg musle fatigue using muscle twitch force (MTF). In order to interpret our results, test-retest and inter-rater reliability of these measurement methods was evaluated first...
March 15, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28295826/prevalence-types-and-associations-of-medically-unexplained-symptoms-and-signs-a-cross-sectional-study-of-1023-adults-with-intellectual-disabilities
#17
M Osugo, J Morrison, L Allan, D Kinnear, S-A Cooper
BACKGROUND: Medically unexplained symptoms and signs are common in the general population and can respond to appropriate managements. We aimed to quantify the types and prevalence of unexplained symptoms and signs experienced by adults with ID and to determine the associated factors. METHOD: In a population-based study, 1023 adults with ID aged 16 and over had a detailed health assessment, which systematically considered symptoms and signs. Descriptive data were generated on their symptoms and signs...
March 9, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28286522/assessment-of-105-patients-with-angiotensin-converting-enzyme-inhibitor-induced-angioedema
#18
Eva Rye Rasmussen, Christian von Buchwald, Mia Wadelius, Sumangali Chandra Prasad, Shailajah Kamaleswaran, Kawa Khaled Ajgeiy, Georg Authried, Kristine Appel U Pallesen, Anette Bygum
Objective. To asses a cohort of 105 consecutive patients with angiotensin converting enzyme-inhibitor induced angioedema with regard to demographics, risk factors, family history of angioedema, hospitalization, airway management, outcome, and use of diagnostic codes used for the condition. Study Design. Cohort study. Methods. This was a retrospective cohort study of 105 patients with angiotensin converting enzyme-inhibitor induced angioedema in the period 1995-2014. Results. The cohort consisted of 67 females and 38 males (F : M ratio 1...
2017: International Journal of Otolaryngology
https://www.readbyqxmd.com/read/28284167/albiglutide-for-the-treatment-of-type-2-diabetes-mellitus-an-integrated-safety-analysis-of-the-harmony-phase-3-trials
#19
Bo Ahrén, Molly C Carr, Karen Murphy, Christopher Perkins, Marc Rendell, Jason Mallory, Timothy Wilson, Susan Johnson
AIMS: Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) stimulate the incretin system and lower glycaemic parameters in type 2 diabetes mellitus (T2DM). This analysis of clinical studies of up to 3years evaluated the safety of albiglutide, a GLP-1 RA, in people with T2DM. METHODS: Integrated safety analysis included seven phase-3 T2DM studies of albiglutide compared with placebo and/or active comparators (a dipeptidyl peptidase-4 inhibitor, GLP-1 RA, insulin, sulphonylurea, and thiazolidinedione)...
February 20, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28282065/fundus-autofluorescence-imaging-systematic-review-of-test-accuracy-for-the-diagnosis-and-monitoring-of-retinal-conditions
#20
REVIEW
G K Frampton, N Kalita, L Payne, J L Colquitt, E Loveman, S M Downes, A J Lotery
We conducted a systematic review of the accuracy of fundus autofluorescence (FAF) imaging for diagnosing and monitoring retinal conditions. Searches in November 2014 identified English language references. Sources included MEDLINE, EMBASE, the Cochrane Library, Web of Science, and MEDION databases; reference lists of retrieved studies; and internet pages of relevant organisations, meetings, and trial registries. For inclusion, studies had to report FAF imaging accuracy quantitatively. Studies were critically appraised using QUADAS risk of bias criteria...
March 10, 2017: Eye
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