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Edward Syndrome

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https://www.readbyqxmd.com/read/27899370/benign-reactive-lymphoid-hyperplasia-of-the-conjunctiva-in-childhood
#1
Adel G AlAkeely, Hind M Alkatan, Adel H Alsuhaibani, Hisham AlKhalidi, Leen Abu Safieh, Sarah E Coupland, Deepak P Edward
BACKGROUND/AIM: Our aim is to the report the clinical and histopathological features of benign reactive lymphoid hyperplasia (BRLH) of the conjunctiva in children and the outcomes of treatment. METHODS: A retrospective chart review was performed for children aged 0-18 years, diagnosed with conjunctival BRLH from January 2000 to December 2013 at two large ophthalmology hospitals in the Middle East. Data were collected on patient demographics, features of the lesions, the site of the lesion, location, adnexal involvement, lymph nodes involvement, local spread, histopathology and molecular genetic studies of the cases (if available), outcomes of treatment and recurrence...
November 29, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27888845/mr-imaging-of-impingement-and-entrapment-syndromes-of-the-foot-and-ankle
#2
REVIEW
Edward Sellon, Philip Robinson
Impingement is a clinical syndrome of chronic pain and restricted range of movement caused by compression of abnormal bone or soft tissue within the ankle joint. It usually occurs following a sprain injury or repetitive microtrauma causing haemorrhage, synovial hyperplasia, and abnormal soft tissue interposition within the joint. MR imaging is particularly valuable in being able to detect not only the soft tissue and osseous abnormalities involved in these syndromes, but also a wide variety of other potential causes of ankle pain and instability that also may need to be addressed clinically...
February 2017: Magnetic Resonance Imaging Clinics of North America
https://www.readbyqxmd.com/read/27881530/menstrual-cups-and-sanitary-pads-to-reduce-school-attrition-and-sexually-transmitted-and-reproductive-tract-infections-a-cluster-randomised-controlled-feasibility-study-in-rural-western-kenya
#3
Penelope A Phillips-Howard, Elizabeth Nyothach, Feiko O Ter Kuile, Jackton Omoto, Duolao Wang, Clement Zeh, Clayton Onyango, Linda Mason, Kelly T Alexander, Frank O Odhiambo, Alie Eleveld, Aisha Mohammed, Anna M van Eijk, Rhiannon Tudor Edwards, John Vulule, Brian Faragher, Kayla F Laserson
OBJECTIVES: Conduct a feasibility study on the effect of menstrual hygiene on schoolgirls' school and health (reproductive/sexual) outcomes. DESIGN: 3-arm single-site open cluster randomised controlled pilot study. SETTING: 30 primary schools in rural western Kenya, within a Health and Demographic Surveillance System. PARTICIPANTS: Primary schoolgirls 14-16 years, experienced 3 menses, no precluding disability, and resident in the study area...
November 23, 2016: BMJ Open
https://www.readbyqxmd.com/read/27876659/surgical-treatment-for-patients-with-moyamoya-syndrome-and-type-1-neurofibromatosis
#4
Jose L Porras, Wuyang Yang, Tomas Garzon-Muvdi, Risheng Xu, Jaishri Blakeley, Allan Belzberg, Justin M Caplan, Syed Khalid, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Edward S Ahn, Judy Huang
INTRODUCTION: The current study describes the impact of surgery in preventing follow-up ipsilateral TIAs/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1). METHODS: We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990-2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected, and compared between a revascularization group (group1) and a conservatively managed group (group2) on a per-hemisphere basis...
November 19, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27876626/life-threatening-nlrc4-associated-hyperinflammation-successfully-treated-with-interleukin-18-inhibition
#5
Scott W Canna, Charlotte Girard, Louise Malle, Adriana de Jesus, Neil Romberg, Judith Kelsen, Lea F Surrey, Pierre Russo, Andrew Sleight, Eduardo Schiffrin, Cem Gabay, Raphaela Goldbach-Mansky, Edward M Behrens
NLRC4-inflammasome hyperactivity causes infantile-onset Macrophage Activation Syndrome and enterocolitis with extraordinary serum IL-18 elevation (NLRC4-MAS). Herein, we report a critically ill infant with severe, refractory NLRC4-MAS who showed sustained response to treatment with experimental IL-18 inhibition.
November 19, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27866447/challenges-in-congenital-central-hypoventilation-syndrome-ondine-s-curse-on-pregnancy-a-case-report
#6
Renato Teixeira Souza, Felipe Favorette Campanharo, Edward Araujo Júnior, Gustavo Antonio Moreira, Diego Robles Mazzotti, Rosiane Mattar, Antonio Fernandes Moron, Fernando Morgadinho Santos Coelho
No abstract text is available yet for this article.
November 21, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27863129/mechanisms-of-obesity-in-prader-willi-syndrome
#7
REVIEW
M J Khan, K Gerasimidis, C A Edwards, M G Shaikh
Obesity is the most common cause of metabolic complications and poor quality of life in Prader-Willi syndrome (PWS). Hyperphagia and obesity develop after an initial phase of poor feeding and failure to thrive. Several mechanisms for the aetiology of obesity in PWS are proposed, which include disruption in hypothalamic pathways of satiety control resulting in hyperphagia, aberration in hormones regulating food intake, reduced energy expenditure because of hypotonia and altered behaviour with features of autism spectrum disorder...
November 10, 2016: Pediatric Obesity
https://www.readbyqxmd.com/read/27862115/pediatric-acute-liver-failure-of-undetermined-cause-a-research-workshop
#8
Estella M Alonso, Simon P Horslen, Edward M Behrens, Edward Doo
: Pediatric Acute liver failure (PALF) is a potentially devastating condition which occurs in previously healthy children of all ages and frequently leads to a rapid clinical deterioration. An identified cause for liver injury is lacking in approximately 30% of cases. Children with undetermined diagnosis have lower spontaneous survival and higher rates of transplantation and death than other diagnostic groups. A single day workshop sponsored by the National Institute of Diabetes and Digestive and Kidney Diseases brought together clinicians and basic scientists to integrate aligned research findings and develop a foundation for new mechanistic studies and future treatment trials...
November 14, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27860277/comparison-of-transradial-and-transfemoral-access-in-patients-undergoing-percutaneous-coronary-intervention-for-complex-coronary-lesions
#9
Edward Koifman, Michael A Gaglia, Ricardo O Escarcega, Nelson L Bernardo, Robert A Lager, Robert A Gallino, Itsik Ben-Dor, Augusto D Pichard, Nevin C Baker, Michael J Lipinski, Sarkis Kiramijyan, Smita I Negi, Rebecca Torguson, Jiaxiang Gai, William O Suddath, Lowell F Satler, Ron Waksman
OBJECTIVE: Comparison of transradial versus transfemoral access for complex percutaneous coronary intervention (PCI) with regard to both complications and long-term outcomes. BACKGROUND: Radial access has been shown to confer superior results in patients undergoing PCI, especially in patients with acute coronary syndromes. However, radial access has limitations of sheath and device size, which may increase procedure time and result in inferior outcomes. METHODS: Patients undergoing PCI for complex lesions, defined as type C according the ACC/AHA classification system, were included in this study...
November 10, 2016: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/27855635/prevalence-and-incidence-of-neurological-disorders-among-adult-ugandans-in-rural-and-urban-mukono-district-a-cross-sectional-study
#10
Mark Kaddumukasa, Leviticus Mugenyi, Martin N Kaddumukasa, Edward Ddumba, Michael Devereaux, Anthony Furlan, Martha Sajatovic, Elly Katabira
BACKGROUND: The burden of neurological diseases is increasing in developing countries. However, there is a prominent scarcity of literature on the incidence of neurological diseases in sub-Saharan Africa. This study was therefore undertaken to determine the prevalence and incidence of neurological diseases in this setting to serve as a baseline for planning and care for neurological disorders in Uganda. METHODS: The study was conducted within rural and urban Mukono district, east of Kampala city of Uganda, central region...
November 17, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27844326/integrated-social-and-neurocognitive-model-of-physical-activity-behavior-in-older-adults-with-metabolic-disease
#11
Erin A Olson, Sean P Mullen, Lauren B Raine, Arthur F Kramer, Charles H Hillman, Edward McAuley
BACKGROUND: Despite the proven benefits of physical activity to treat and prevent metabolic diseases, such as diabetes (T2D) and metabolic syndrome (MetS), most individuals with metabolic disease do not meet physical activity (PA) recommendations. PA is a complex behavior requiring substantial motivational and cognitive resources. The purpose of this study was to examine social cognitive and neuropsychological determinants of PA behavior in older adults with T2D and MetS. The hypothesized model theorized that baseline self-regulatory strategy use and cognitive function would indirectly influence PA through self-efficacy...
November 14, 2016: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
https://www.readbyqxmd.com/read/27843654/anterior-pituitary-aplasia-in-an-infant-with-ring-chromosome-18p-deletion
#12
Edward J Bellfield, Jacqueline Chan, Sarah Durrin, Valerie Lindgren, Zohra Shad, Claudia Boucher-Berry
We present the first reported case of an infant with 18p deletion syndrome with anterior pituitary aplasia secondary to a ring chromosome. Endocrine workup soon after birth was reassuring; however, repeat testing months later confirmed central hypopituitarism. While MRI reading initially indicated no midline defects, subsequent review of the images confirmed anterior pituitary aplasia with ectopic posterior pituitary. This case demonstrates how deletion of genetic material, even if resulting in a chromosomal ring, still results in a severe syndromic phenotype...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/27836900/lethal-h1n1-influenza-a-virus-infection-alters-the-murine-alveolar-type-ii-cell-surfactant-lipidome
#13
Parker S Woods, Lauren May Doolittle, Lucia Elena Rosas, Lisa M Joseph, Edward P Calomeni, Ian Christopher Davis
BACKGROUND: Alveolar type II (ATII) epithelial cells are the primary site of influenza virus replication in the distal lung. Development of acute respiratory distress syndrome (ARDS) in influenza-infected mice correlates with significant alterations in ATII cell function. However, the impact of infection on ATII cell surfactant lipid metabolism has never been explored. METHODS: C57BL/6 mice were inoculated intranasally with 10,000 pfu/mouse of influenza A/WSN/33 (H1N1) or mock-infected with virus diluent...
November 11, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27830362/numeracy-predicts-risk-of-pre-hospital-decision-delay-a-retrospective-study-of-acute-coronary-syndrome-survival
#14
Dafina Petrova, Rocio Garcia-Retamero, Andrés Catena, Edward Cokely, Ana Heredia Carrasco, Antonio Arrebola Moreno, José Antonio Ramírez Hernández
BACKGROUND: Many patients delay seeking medical attention during acute coronary syndromes (ACS), profoundly increasing their risk for death and major disability. Although research has identified several risk factors, efforts to improve patient decision making have generally been unsuccessful, prompting a call for more research into psychological factors. PURPOSE: The purpose of this study is to estimate the relationship between ACS decision delay and numeracy, a factor closely related to general decision making skill and risk literacy...
November 9, 2016: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
https://www.readbyqxmd.com/read/27829137/tumor-induced-il-6-reprograms-host-metabolism-to-suppress-anti-tumor-immunity
#15
Thomas R Flint, Tobias Janowitz, Claire M Connell, Edward W Roberts, Alice E Denton, Anthony P Coll, Duncan I Jodrell, Douglas T Fearon
In patients with cancer, the wasting syndrome, cachexia, is associated with caloric deficiency. Here, we describe tumor-induced alterations of the host metabolic response to caloric deficiency that cause intratumoral immune suppression. In pre-cachectic mice with transplanted colorectal cancer or autochthonous pancreatic ductal adenocarcinoma (PDA), we find that IL-6 reduces the hepatic ketogenic potential through suppression of PPARalpha, the transcriptional master regulator of ketogenesis. When these mice are challenged with caloric deficiency, the resulting relative hypoketonemia triggers a marked rise in glucocorticoid levels...
November 8, 2016: Cell Metabolism
https://www.readbyqxmd.com/read/27825787/-i-swear-it-is-tourette-s-on-functional-coprolalia-and-other-tic-like-vocalizations
#16
Christos Ganos, Mark J Edwards, Kirsten Müller-Vahl
Coprolalia in neuropsychiatry is typically associated with tic disorders, in particular Gilles de la Tourette syndrome. To date, there has been no report of functional coprolalia. Here, we provide the clinical characteristics of 13 adolescent and adult patients with coprolalic and other functional tic-like complex vocalizations who, on the basis of these symptoms, were misdiagnosed with a primary tic disorder, most commonly Gilles de la Tourette syndrome. We describe similarities and highlight the differences from primary tic disorders in order to provide a pragmatic list of clinical clues that will facilitate correct diagnostic labeling and thereby treatment...
October 17, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27812048/management-of-eczema-herpeticum-in-a-burn-unit
#17
Muhammad Sohail, Farid Ahmad Khan, Hussan Birkhez Shami, Muhammad Mustehsan Bashir
OBJECTIVE: To study the clinical features, course and outcome of eczema herpeticum in burn patients. METHODS: This prospective study was conducted at the King Edward Medical University / Mayo Hospital, Lahore, Pakistan, from November 2012 to October 2015, and comprised eczema herpeticum patients. Demographic and clinical features of the patients, treatment protocols and outcomes were noted. SPSS 18 was used for data analysis. RESULTS: Of the 18 patients, 10(56%) were females and 8(44%) were males...
November 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/27805744/clinical-and-molecular-characteristics-of-slc16a2-mct8-mutations-in-three-families-with-the-allan-herndon-dudley-syndrome
#18
Francesca Novara, Stefan Groeneweg, Elena Freri, Margherita Estienne, Paolo Reho, Sara Matricardi, Barbara Castellotti, W Edward Visser, Orsetta Zuffardi, Theo J Visser
Mutations in the thyroid hormone transporter SLC16A2 (MCT8) cause the Allan-Herndon-Dudley Syndrome (AHDS), characterized by severe psychomotor retardation and peripheral thyrotoxicosis. Here, we report three newly identified AHDS patients. Previously documented mutations were identified in probands 1 (p.R271H) and 2 (p.G564R), resulting in a severe clinical phenotype. A novel mutation (p.G564E) was identified in proband 3, affecting the same Gly564 residue, but resulting in a relatively mild clinical phenotype...
November 2, 2016: Human Mutation
https://www.readbyqxmd.com/read/27803958/predicting-the-need-for-neoaortic-arch-intervention-in-infants-with-hypoplastic-left-heart-syndrome-through-the-glenn-procedure
#19
Mamata Eagam, Rohit S Loomba, Andrew N Pelech, James S Tweddell, Edward Kirkpatrick
Neoaortic recoarctation is present in up to over one-third of patients having undergone the Norwood procedure for hypoplastic left heart syndrome. Some of these patients will require reintervention by catheterization or surgery through the time of the Glenn procedure. Echocardiography and catheterization are often utilized in this period to assess hemodynamics although no specific criteria have been identified to predict whether and when neoaortic arch reintervention will be needed. We sought to identify predictors, including but not limited to echocardiographic and catheterization gradients, to predict such intervention...
November 1, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27802220/brain-regions-involved-in-arousal-and-reward-processing-are-associated-with-apathy-in-alzheimer-s-disease-and-frontotemporal-dementia
#20
Edward D Huey, Seonjoo Lee, Gayathri Cheran, Jordan Grafman, Davangere P Devanand
BACKGROUND: Apathy is a common and problematic symptom of several neurodegenerative illnesses, but its neuroanatomical bases are not understood. OBJECTIVE: To determine the regions associated with apathy in subjects with mild Alzheimer's disease (AD) using a method that accounts for the significant co-linearity of regional atrophy and neuropsychiatric symptoms. METHODS: We identified 57 subjects with mild AD (CDR = 1) and neuropsychiatric symptoms in the Alzheimer's Disease Neuroimaging Initiative (ADNI) database...
October 11, 2016: Journal of Alzheimer's Disease: JAD
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