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Florian B Pokorny, Katrin D Bartl-Pokorny, Christa Einspieler, Dajie Zhang, Ralf Vollmann, Sven Bölte, Markus Gugatschka, Björn W Schuller, Peter B Marschik
BACKGROUND: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations. AIMS: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt perception and acoustic vocalisation analysis. METHODS AND PROCEDURES: We extracted N = 363 (pre-)linguistic vocalisations from home video recordings of an infant later diagnosed with RTT...
March 15, 2018: Research in Developmental Disabilities
Andreas Venhorst, Dominic P Micklewright, Timothy D Noakes
INTRODUCTION: A three-dimensional framework of centrally regulated and goal-directed exercise behaviour emphasised the integration of distinct sensory-discriminatory, affective-motivational and cognitive-evaluative dimensions that underpin perceived fatigability. This study aimed to capture the complex interdependencies and temporal dynamics in these processes, their interrelations with observed pacing behaviour, performance and biochemical variables as well as their performance level- and competition outcome-dependent variances...
March 12, 2018: Sports Medicine
T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, E C Bedoukian, E J Bhoj, D Bonneau, E Boudry-Labis, S Bouquillon, O Boute-Benejean, R Caumes, N Chatron, C Colson, C Coubes, C Coutton, F Devillard, A Dieux-Coeslier, M Doco-Fenzy, L J Ewans, L Faivre, E Fassi, M Field, C Fournier, C Francannet, D Genevieve, I Giurgea, A Goldenberg, A K Green, A M Guerrot, D Heron, B Isidor, B A Keena, B L Krock, P Kuentz, E Lapi, N Le Meur, G Lesca, D Li, I Marey, C Mignot, C Nava, A Nesbitt, G Nicolas, C Roche-Lestienne, T Roscioli, V Satre, A Santani, M Stefanova, S Steinwall Larsen, P Saugier-Veber, S Picker-Minh, C Thuillier, A Verloes, G Vieville, M Wenzel, M Willems, S Whalen, Y A Zarate, A Ziegler, S Manouvrier-Hanu, V M Kalscheuer, B Gerard, Jamal Ghoumid
Molecular anomalies in MED13L, leading to haploinsufficiency, have been reported in patients with moderate to severe intellectual disability (ID) and distinct facial features, with or without congenital heart defects. Phenotype of the patients was referred to "MED13L haploinsufficiency syndrome." Missense variants in MED13L were already previously described to cause the MED13L-related syndrome, but only in a limited number of patients. Here we report 36 patients with MED13L molecular anomaly, recruited through an international collaboration between centers of expertise for developmental anomalies...
March 6, 2018: Neurogenetics
Mukesh Kumar, Shilpi Modi, Poonam Rana, Pawan Kumar, Ratnesh Kanwar, Tarun Sekhri, Maria D'souza, Subash Khushu
Subclinical hypothyroidism (SCH) is characterized by mild elevation of thyroid stimulating hormone (TSH) (range 5-10 μIU/ml) and normal free triiodothyronine (FT3) and free thyroxine (FT4). The cognitive function impairment is well known in thyroid disorders such as hypothyroidism and hyperthyroidism, but little is known about deficits in brain functions in SCH subjects. Also, whether hormone-replacement treatment is necessary or not in SCH subjects is still debatable. In order to have an insight into the cognition of SCH subjects, intrinsic and extrinsic functional connectivity (FC) of the resting state networks (RSNs) was studied...
March 5, 2018: Journal of Neuroendocrinology
Shawn M Varney, Crystal A Perez, Allyson A Araña, Katherine R Carey, Victoria J Ganem, Lee A Zarzabal, Rosemarie G Ramos, Vikhyat S Bebarta
Emergency department (ED) providers have limited time to evaluate patients at risk for opioid misuse. A validated tool to assess the risk for aberrant opioid behavior may mitigate adverse sequelae associated with prescription opioid misuse. We sought to determine if SOAPP-R, COMM, and provider gestalt were able to identify patients at risk for prescription opioid misuse as determined by pharmacy records at 12 months. We conducted a prospective observational study of adult patients in a high volume US ED. Patients completed the SOAPP-R and COMM, and treating EM providers evaluated patients' opioid misuse risk...
March 3, 2018: Internal and Emergency Medicine
Lane M Smith, Chadwick D Miller
Acute aortic dissection (AAD) sits at the intersection of rare, deadly, and expensive to diagnose conditions. It is a disease that every emergency physician (EP) considers on a daily basis, but encounters only a handful during a career. Considerable attention has been given to this disease after the American Heart Association, American College of Cardiology, and 10 cosponsoring professional societies published the 2010 thoracic aortic disease guidelines to improve the missed or delayed treatment of AAD (1)...
March 2, 2018: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
Vijay Kata, Matthew B Novitch, Mark R Jones, Best O Anyama, Erik M Helander, Alan D Kaye
PURPOSE OF REVIEW: The primary cause of overdose death in the United States is related to pharmaceutical opioids. A few particular populations that struggle with adverse outcomes related to opioid abuse are those in palliative care, those with chronic pain, and those receiving pain treatments secondary to cancer or chemotherapy. RECENT FINDINGS: There have been massive efforts to decrease the use of opioid abuse in patient care in a gestalt manner, but palliative care provides unique challenges in applying these reduction tactics used by other specialties...
February 19, 2018: Current Opinion in Supportive and Palliative Care
Sofía Catena, Mariana Aracena, Óscar Pizarro, Karena Espinoza, Guillermo Lay-Son
Proximal deletion of 6q is a relatively rare chromosomal abnormality. Reported patients have deletions of different sizes but share partial overlap and present with similar clinical features, and some of them were described prior to the introduction of chromosome microarrays. We describe a male patient with prenatal sonographic findings of nuchal edema, intrauterine growth restriction, renal pelvis dilatation, and oligohydramnios. At birth, facial dysmorphism, retro/micrognathia, a short and wide neck as well as cardiovascular and renal anomalies were noted...
December 2017: Molecular Syndromology
Yonathan Freund, Marine Cachanado, Adeline Aubry, Charlotte Orsini, Pierre-Alexis Raynal, Anne-Laure Féral-Pierssens, Sandrine Charpentier, Florence Dumas, Nacera Baarir, Jennifer Truchot, Thibaut Desmettre, Karim Tazarourte, Sebastien Beaune, Agathe Leleu, Mehdi Khellaf, Mathias Wargon, Ben Bloom, Alexandra Rousseau, Tabassome Simon, Bruno Riou
Importance: The safety of the pulmonary embolism rule-out criteria (PERC), an 8-item block of clinical criteria aimed at ruling out pulmonary embolism (PE), has not been assessed in a randomized clinical trial. Objective: To prospectively validate the safety of a PERC-based strategy to rule out PE. Design, Setting, and Patients: A crossover cluster-randomized clinical noninferiority trial in 14 emergency departments in France. Patients with a low gestalt clinical probability of PE were included from August 2015 to September 2016, and followed up until December 2016...
February 13, 2018: JAMA: the Journal of the American Medical Association
Deborah J Williams, Amy H Kaji
No abstract text is available yet for this article.
February 2018: Annals of Emergency Medicine
Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau, Jacques L Michaud, Myriam Srour
Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype...
February 12, 2018: American Journal of Medical Genetics. Part A
Nicholas Poponea, Mohanad Suede, Mohammad Muhsin Chisti
We report a 74-year-old female who presented to the emergency department complaining of bruising and stroke-like symptoms. She underwent a negative stroke work-up but was found to have profoundly low platelets and splenomegaly on examination. An abdominal CT scan was ordered, showing pelvic lymphadenopathy. Lymphoma was suspected. However, subsequent bone marrow and lymph node biopsies showed no evidence of this. She was treated for immune thrombocytopenia purpura (ITP) to no avail while a lymphoma work-up continued...
September 2017: Case Reports in Oncology
Champica K Bodinayake, L Gayani Tillekeratne, Ajith Nagahawatte, Vasantha Devasiri, Wasantha Kodikara Arachchi, John J Strouse, October M Sessions, Ruvini Kurukulasooriya, Anna Uehara, Shiqin Howe, Xin Mei Ong, Sharon Tan, Angelia Chow, Praveen Tummalapalli, Aruna D De Silva, Truls Østbye, Christopher W Woods, Duane J Gubler, Megan E Reller
BACKGROUND: Dengue is a leading cause of fever and mimics other acute febrile illnesses (AFI). In 2009, the World Health Organization (WHO) revised criteria for clinical diagnosis of dengue. METHODOLOGY/PRINCIPAL FINDINGS: The new WHO 2009 classification of dengue divides suspected cases into three categories: dengue without warning signs, dengue with warning signs and severe dengue. We evaluated the WHO 2009 classification vs physicians' subjective clinical diagnosis (gestalt clinical impression) in a large cohort of patients presenting to a tertiary care center in southern Sri Lanka hospitalized with acute febrile illness...
February 9, 2018: PLoS Neglected Tropical Diseases
Pamela Douglas, Donna Geddes
BACKGROUND: breastfeeding optimises health outcomes for both mothers and infants. Although most women want to breastfeed, they report commencing infant formula because of nipple pain, unsettled infant behaviour, and infant growth concerns. To date, existing approaches to fit and hold ('latch and positioning') have been demonstrated not to help breastfeeding outcomes, and women report widespread dissatisfaction with the quality of support and conflicting advice they receive. Breast and nipple pain, difficulty with latching and sucking, fussing at the breast, back-arching, marathon feeds, excessively frequent feeds, poor weight gain, breast refusal, and crying due to poor satiety often signal suboptimal positional instability and impaired milk transfer, but may be misdiagnosed as medical conditions...
March 2018: Midwifery
Luitgard M Graul-Neumann, Martin A Mensah, Eva Klopocki, Steffen Uebe, Arif B Ekici, Christian T Thiel, André Reis, Christiane Zweier
3MC syndrome is a rare autosomal recessive disorder with characteristic craniofacial dysmorphism and multiple anomalies. It is caused by biallelic mutations in one of three genes, MASP1, COLEC11 and COLEC10, all encoding factors of the lectin complement pathway. In MASP1, either truncating mutations or missense variants in exon 12 encoding the C-terminal serine protease domain specific for isoform MASP-3 are causative. By trio exome sequencing we now identified a novel, homozygous 2kb deletion, partially affecting exon 12 in an adult female with the typical facial gestalt of 3MC syndrome and hearing loss, but without the main feature cleft lip/palate, and without intellectual disability, or short stature...
January 30, 2018: European Journal of Medical Genetics
Ceris I Owen, Ramsay Bowden, Michael J Parker, Jo Patterson, Joan Patterson, Sue Price, Ajoy Sarkar, Bruce Castle, Charulatha Deshpande, Miranda Splitt, Neeti Ghali, John Dean, Andrew J Green, Charlene Crosby, Katrina Tatton-Brown
Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. More recently, through trio-based exome sequencing undertaken by the Deciphering Developmental Disorders Study (DDD study), a further 11 children with de novo CSNK2A1 variants have been identified. We have undertaken detailed phenotyping of these patients. Consistent with previously reported patients, patients in this series had apparent intellectual disability, swallowing difficulties, and hypotonia...
January 31, 2018: American Journal of Medical Genetics. Part A
Brent Thoma, Stefanie S Sebok-Syer, Isabelle Colmers-Gray, Jonathan Sherbino, Felix Ankel, N Seth Trueger, Andrew Grock, Marshall Siemens, Michael Paddock, Eve Purdy, William Kenneth Milne, Teresa M Chan
Construct: We investigated the quality of emergency medicine (EM) blogs as educational resources. PURPOSE: Online medical education resources such as blogs are increasingly used by EM trainees and clinicians. However, quality evaluations of these resources using gestalt are unreliable. We investigated the reliability of two previously derived quality evaluation instruments for blogs. APPROACH: Sixty English-language EM websites that published clinically oriented blog posts between January 1 and February 24, 2016, were identified...
January 30, 2018: Teaching and Learning in Medicine
Sven Bölte, Soheil Mahdi, Petrus J de Vries, Mats Granlund, John E Robison, Cory Shulman, Susan Swedo, Bruce Tonge, Virginia Wong, Lonnie Zwaigenbaum, Wolfgang Segerer, Melissa Selb
Autism spectrum disorder is associated with diverse social, educational, and occupational challenges. To date, no standardized, internationally accepted tools exist to assess autism spectrum disorder-related functioning. World Health Organization's International Classification of Functioning, Disability and Health can serve as foundation for developing such tools. This study aimed to identify a comprehensive, a common brief, and three age-appropriate brief autism spectrum disorder Core Sets. Four international preparatory studies yielded in total 164 second-level International Classification of Functioning, Disability and Health candidate categories...
January 1, 2018: Autism: the International Journal of Research and Practice
Tobias Feldmann-Wüstefeld, Edward K Vogel
In order to efficiently process incoming visual information, selective attention acts as a filter that enhances relevant and suppresses irrelevant information. In this study, we used an event-related potential (ERP) approach with systematic lateralization to investigate enhancement and suppression during encoding of information into visual working memory (WM) separately. We used a change detection task in which observers had to memorize some items while ignoring other items. We found that the to-be-ignored items elicited a PD component in the ERP, suggesting that irrelevant information is actively suppressed from WM...
January 20, 2018: Cerebral Cortex
Michael P Notter, Michael Hanke, Micah M Murray, Eveline Geiser
The perception of an acoustic rhythm is invariant to the absolute temporal intervals constituting a sound sequence. It is unknown where in the brain temporal Gestalt, the percept emerging from the relative temporal proximity between acoustic events, is encoded. Two different relative temporal patterns, each induced by three experimental conditions with different absolute temporal patterns as sensory basis, were presented to participants. A linear support vector machine classifier was trained to differentiate activation patterns in functional magnetic resonance imaging data to the 2 different percepts...
January 20, 2018: Cerebral Cortex
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