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https://www.readbyqxmd.com/read/29452367/variant-in-human-pofut1-reduces-enzymatic-activity-and-likely-causes-a-recessive-microcephaly-global-developmental-delay-with-cardiac-and-vascular-features
#1
Hideyuki Takeuchi, Derek Wong, Michael Schneider, Hudson H Freeze, Megumi Takeuchi, Steven J Berardinelli, Atsuko Ito, Hane Lee, Stanley F Nelson, Robert S Haltiwanger
Protein O-fucosyltransferase-1 (POFUT1) adds O-fucose monosaccharides to epidermal growth factor-like (EGF) repeats found on approximately 100 mammalian proteins, including Notch receptors. Haploinsufficiency of POFUT1 has been linked to adult-onset Dowling Degos Disease (DDD) with hyperpigmentation defects. Homozygous deletion of mouse Pofut1 results in embryonic lethality with severe Notch-like phenotypes including defects in somitogenesis, cardiogenesis, vasculogenesis, and neurogenesis, but the extent to which POFUT1 is required for normal human development is not yet understood...
February 14, 2018: Glycobiology
https://www.readbyqxmd.com/read/29452296/development-and-persistence-of-suspected-neuropathic-pain-after-total-knee-arthroplasty-in-individuals-with-osteoarthritis
#2
Matthew Fitzsimmons, Eloise Carr, Linda Woodhouse, Geoff P Bostick
BACKGROUND: Despite the effectiveness of total knee arthroplasty (TKA) for osteoarthritis (OA), up to 20% will report knee pain 1-year after surgery. One possible reason is the development of neuropathic pain before or after TKA. OBJECTIVE: To longitudinally describe suspected neuropathic pain in patients pre- and post-TKA and to explore relationships between pre-TKA suspected neuropathic pain and post-TKA outcomes. DESIGN: Prospective observational study...
February 13, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29452223/grade-guidelines-19-assessing-the-certainty-of-evidence-describing-the-relative-importance-of-outcomes-or-values-and-preferences-risk-of-bias-and-indirectness
#3
Yuan Zhang, Pablo Alonso Coello, Gordon Guyatt, Juan Jose Yepes-Nunez, Elie A Akl, Glen Hazlewood, Hector Pardo-Hernandez, Itziar Etxeandia-Ikobaltzeta, Amir Qaseem, John W Williams, Peter Tugwell, Signe Flottorp, Yaping Chang, Yuqing Zhang, Reem A Mustafa, María Ximena Rojas, Holger J Schünemann
OBJECTIVE: The GRADE working group defines patient values and preferences as the relative importance patients place on the main health outcomes. We provide GRADE guidance for assessing the risk of bias and indirectness domains for certainty of evidence about the relative importance of outcomes. STUDY DESIGN AND SETTING: We applied the GRADE domains to rate the certainty of evidence in the importance of outcomes to several systematic reviews, iteratively reviewed draft guidance and consulted GRADE members and other stakeholders for feedback...
February 13, 2018: Journal of Clinical Epidemiology
https://www.readbyqxmd.com/read/29452069/idiopathic-isolated-unilateral-hypoglossal-nerve-palsy-a-report-of-2-cases-and-review-of-the-literature
#4
Akio Shibata, Masashi Kimura, Kenichiro Ishiabashi, Masahiro Umemura
Hypoglossal nerve palsy (HNP) is a common finding in neurologic diseases when associated with other cranial nerve palsies or further pathology and exhibits characteristic clinical manifestations, including unilateral atrophy of the musculature of the tongue. It occasionally appears as the initial or solitary sign of an intracranial or extracranial space-occupying lesion, head or neck injury, or vascular abnormality of the internal carotid artery. There are few cases of idiopathic isolated unilateral HNP, which should be diagnosed through exclusion...
February 2, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29452031/prehospital-cervical-spine-motion-immobilization-versus-spine-motion-restriction
#5
Erik E Swartz, W Steven Tucker, Matthew Nowak, Jason Roberto, Amy Hollingworth, Laura C Decoster, Thomas W Trimarco, Jason P Mihalik
OBJECTIVE: This study aims to evaluate the efficacy of two different spinal immobilization techniques on cervical spine movement in a simulated prehospital ground transport setting. METHODS: A counterbalanced crossover design was used to evaluate two different spinal immobilization techniques in a standardized environment. Twenty healthy male volunteers (age = 20.9 ± 2.2 yr) underwent ambulance transport from a simulated scene to a simulated emergency department setting in two separate conditions: utilizing traditional spinal immobilization (TSI) and spinal motion restriction (SMR)...
February 16, 2018: Prehospital Emergency Care
https://www.readbyqxmd.com/read/29452026/general-movements-and-motor-outcomes-in-two-infants-exposed-to-zika-virus-brief-report
#6
Daniele de Almeida Soares-Marangoni, Natália Matos Tedesco, Andressa Lagoa Nascimento, Priscila Rimoli De Almeida, Caroline Neder Dos Santos Pereira
OBJECTIVE: We described the general movements (GMs) in the fidgety period and the motor performance of two infants who were exposed to Zika virus (ZIKV) during distinct trimesters of gestation. METHODS: Infants were assessed at 4 and 12 months of age. Prechtl's GM assessment and the Alberta Infant Motor Scale were used. RESULTS: In Case 1, the mother presented confirmed ZIKV infection in the 10th week of gestation and the infant was born full-term with brain abnormalities and microcephaly...
February 16, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29451958/peripartum-cardiomyopathy-status-2018
#7
REVIEW
Divya Gupta, Nanette K Wenger
Peripartum cardiomyopathy is a rare cardiac condition, overall. However, in certain populations can be found frequently enough and the signs, symptoms, and management should be readily understood. Here we provide an updated overview of this topic.
February 16, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29451927/a-retrospective-tomographic-and-histologic-analysis-of-horizontal-bone-augmentation-in-maxillary-atrophic-ridges-using-resorbable-membrane-with-anorganic-bovine-bone-derived-mineral-and-plasma-rich-in-growth-factors
#8
Massimo Lorenzetti, Maurizio Vono, Virginia Lorenzetti
A total of six patients treated from 2010 to 2014, having a knife-edge ridge (Cawood-Howell Class IV resorbed ridges) and requiring an implant-prosthetic rehabilitation, were selected. Tomographic measurement of the edentulous ridges was performed before grafting and after implant placement. At 6 months postgraft, a total of 41 implants had been inserted, 17 in the posterior region, 12 in the central region, and 12 in the anterior region. No surgical or healing complications were recorded, and the prostheses were loaded 6 to 9 months after implant placement...
February 16, 2018: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/29451694/children-with-facial-morphea-managing-everyday-life-a-qualitative-study
#9
E Stasiulis, B Gladstone, K Boydell, C O'Brien, E Pope, R Laxer
BACKGROUND: This study explores the everyday experiences of children with facial morphea by examining the psychosocial impact of living with facial morphea and how children and their families manage its impact. METHODS: We used a qualitative, social constructionist approach involving focus groups, in-depth interviews and drawing activities with 10 children with facial morphea 8-17 years of age and 13 parents. Interpretive thematic analysis was utilized to examine the data...
February 16, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29451646/profile-of-patients-with-fournier-s-gangrene-and-their-clinical-evolution
#10
Djoney Rafael Dos-Santos, Ulisses Luiz Tasca Roman, André Pereira Westphalen, Keli Lovison, Fernando Antonio C Spencer Neto
OBJECTIVE: to analyze the profile of patients with Fournier's gangrene treated in a public tertiary hospital in western Paraná State. METHODS: we conducted a cross-sectional, retrospective and descriptive study of patients with Fournier's gangrene treated between January 2012 and November 2016. RESULTS: there were 40 patients with Fournier's gangrene treated in the period, 29 (72.5%) men and 11 (27.5%) women. The mean age was 51.7±16.3 years...
2018: Revista do Colégio Brasileiro de Cirurgiões
https://www.readbyqxmd.com/read/29451444/survival-and-prognostic-factors-in-cats-with-restrictive-cardiomyopathy-a-review-of-90-cases
#11
Chiara Locatelli, Danitza Pradelli, Giulia Campo, Ilaria Spalla, Alice Savarese, Paola G Brambilla, Claudio Bussadori
Objectives Large studies focusing on restrictive cardiomyopathy (RCM) in the cat are scarce. The aims of this retrospective study were to describe epidemiological characteristics and to analyse prognostic factors affecting survival in cats with RCM. Methods The clinical archives of the Gran Sasso Veterinary Clinic (Milan, Italy) and of the cardiology unit of the Department of Veterinary Medicine (University of Milan, Italy) from 1997-2015 were reviewed for all cats diagnosed with RCM based on an echocardiographic examination (left atrial/bi-atrial enlargement, normal left ventricle wall thickness, normal or mildly decreased systolic function and restrictive left ventricle filling pattern with pulsed Doppler echocardiography)...
February 1, 2018: Journal of Feline Medicine and Surgery
https://www.readbyqxmd.com/read/29451301/intu-related-oral-facial-digital-syndrome-type-vi-a-confirmatory-report
#12
A-L Bruel, J Levy, N Elenga, A Defo, A Favre, H Lucron, Y Capri, L Perrin, S Passemard, Y Vial, A-C Tabet, L Faivre, C Thauvin-Robinet, A Verloes
Oral-facial-digital (OFD) syndromes are a subgroup of ciliopathies distinguished by the co-occurrence of hamartomas and/or multiple frenula of the oral region and digital anomalies. Several clinical forms of OFD are distinguished by their associated anomalies and/or inheritance patterns, and at least 20 genetic types of OFD have been delineated. We describe here a child with preaxial and postaxial polydactyly, lingual hamartoma, a congenital heart defect, delayed development and cerebellar peduncles displaying the molar tooth sign...
February 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29451101/severe-tricuspid-regurgitation-and-seizure-on-postpartum-day-10-case-report-of-late-postpartum-eclampsia
#13
Martin Vanden Eede, Matthew Schroyens
OBJECTIVE AND IMPORTANCE: Late postpartum eclampsia is characterized by pre-eclampsia and tonic-clonic seizures presenting more than 48 hours postpartum. It is a rare, frightening and dangerous complication that requires rapid recognition and adequate treatment. CLINICAL PRESENTATION: We present a case of late postpartum eclampsia, initially diagnosed as right-sided heart failure, 10 days postpartum.Two days after the delivery she developed mild swelling of both feet, progressive shortness of breath on exertion and orthopnea...
February 16, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29451100/ethnographic-analysis-of-communication-and-the-deaf-community-s-rights-in-the-clinical-context
#14
Dolors Rodríguez-Martín, Catalina Rodríguez-García, Anna Marta Falcó-Pegueroles
ABSTRAT Blackground: Communication is a key factor in people's interaction with the health system. In the case of Deaf Community -deaf sign language users- healthcare interactions could be affected by communication in a society that is mainly hearing and consequently, it can also have a negative impact on health and jeopardise some of their health rights. OBJECTIVES: . The aims were (i) to know the communication access difficulties of deaf people in healthcare context and (ii) determine how these difficulties violate their rights...
February 16, 2018: Contemporary Nurse
https://www.readbyqxmd.com/read/29451040/pulmonary-delivery-of-influenza-vaccine-formulations-in-cotton-rats-site-of-deposition-plays-a-minor-role-in-the-protective-efficacy-against-clinical-isolate-of-h1n1pdm-virus
#15
Yoshita Bhide, Jasmine Tomar, Wei Dong, Jacqueline de Vries-Idema, Henderik W Frijlink, Anke Huckriede, Wouter L J Hinrichs
Administration of influenza vaccines to the lungs could be an attractive alternative to conventional parenteral administration. In this study, we investigated the deposition site of pulmonary delivered liquid and powder influenza vaccine formulations and its relation to their immunogenicity and protective efficacy. In vivo deposition studies in cotton rats revealed that, the powder formulation was mainly deposited in the trachea ( ∼ 65%) whereas the liquid was homogenously distributed throughout the lungs ( ∼ 96%)...
November 2018: Drug Delivery
https://www.readbyqxmd.com/read/29451010/assessment-of-mycoplasma-gallisepticum-vaccine-efficacy-in-a-co-infection-challenge-model-with-qx-like-infectious-bronchitis-virus
#16
Dauda G Bwala, Solomon Ponman, Neil Duncan, Daniel B R Wandrag, Celia Abolnik
Mycoplasma gallisepticum (MG) is the primary cause of chronic respiratory disease in poultry. We investigated the protective efficacy of the live attenuated ts-11 and 6/85 MG vaccines against a local MG strain, and in order to enhance symptoms and mimic a typical field situation, we co-infected birds with a virulent strain of QX-like infectious bronchitis virus (IBV). Both vaccines showed similar ability to protect infected chickens from clinical signs, although ts-11 performed slightly better. Despite the lower protection against clinical disease, 6/85-vaccinated birds had significantly (P≤0...
February 16, 2018: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/29450988/salso-bromo-iodine-thermal-water-a-nonpharmacological-alternative-treatment-for-postnasal-drip-related-cough-in-children-with-upper-respiratory-tract-infections
#17
I La Mantia, G Ciprandi, A Varricchio, F Cupido, C Andaloro
Postnasal drip (PND)-related cough is a very common symptom in patients with upper respiratory tract infections (URTIs). At present, there is not a standard treatment for postnasal drip and postnasal drip-related cough. The aim of this pilot study was to evaluate the efficacy of a specific salso-bromo-iodine thermal water containing hyaluronic acid and grapefruit seed extract (SBI-H-GSE) comparing it with a normal saline solution in children with URTIs who refer PND-related symptoms. The study was randomized, single-blind, and controlled...
January 2018: Journal of Biological Regulators and Homeostatic Agents
https://www.readbyqxmd.com/read/29450961/volumetric-based-image-guidance-is-superior-to-marker-based-alignments-for-stereotactic-body-radiotherapy-of-prostate-cancer
#18
Wen Li, Lan Lu, Kevin L Stephans, Naveen Sharma, Andrew Vassil, Zhilei Liu Shen, Abigail Stockham, Toufik Djemil, Rahul D Tendulkar, Ping Xia
PURPOSES: The aim of this study was to evaluate a dual marker-based and soft-tissue based image guidance for inter-fractional corrections in stereotactic body radiotherapy (SBRT) of prostate cancer. METHODS/MATERIALS: We reviewed 18 patients treated with SBRT for prostate cancer. An endorectal balloon was inserted at simulation and each treatment. Planning margins were 3 mm/0 mm posteriorly. Prior to each treatment, a dual image guidance protocol was applied to align three makers using stereoscopic x ray images and then to the soft tissue using kilo-voltage cone beam CT (kV-CBCT)...
February 15, 2018: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/29450869/long-term-observation-of-acute-onset-autoimmune-hepatitis-presenting-clinically-and-radiologically-as-acute-hepatitis
#19
Keiichi Fujiwara, Yoshihiro Fukuda, Katsushi Seza, Masaya Saito, Shin Yasui, Masayuki Nakano, Osamu Yokosuka, Naoya Kato
BACKGROUND: There is yet no gold standard for the diagnosis of acute-onset autoimmune hepatitis (A-AIH), especially histologically acute AIH. As a result, long-term observation of A-AIH has been difficult and the nature is not well known. We retrospectively analyzed the clinicopathological features of A-AIH over a long prospective follow-up period. METHODS: Clinical, biochemical, immunological and pathological features of 30 patients (21 female, mean age 55.1 ± 13...
February 15, 2018: Hepatology International
https://www.readbyqxmd.com/read/29450739/influence-of-operator-skill-level-on-the-clinical-outcome-of-non-surgical-periodontal-treatment-a-retrospective-study
#20
Avital Kozlovsky, Alex Rapaport, Zvi Artzi
OBJECTIVES: The aim of this study is to evaluate the effect of operators experience and skill on treatment results of initial non-surgical periodontal therapy. MATERIALS AND METHODS: Initial periodontal treatment was carried out by either second-year periodontal residents (PR) or last year dental students (DS). From the treatment records of patients in each group, plaque and bleeding indices, and pocket depth (PD) at baseline and at re-evaluation were collected retrospectively on each tooth at six locations...
February 15, 2018: Clinical Oral Investigations
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