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S M Hayen, A M Ehlers, C F den Hartog Jager, J Garssen, E F Knol, A C Knulst, W Suer, L E M Willemsen, H G Otten
BACKGROUND: Screening for specific IgE against 2S albumin proteins Ara h 2 and 6 has good positive predictive value in diagnosing peanut allergy. From the third 2S member Ara h 7, three isoforms have been identified. Their allergenicity has not been elucidated. OBJECTIVE: This study investigated the allergenicity of Ara h 7 isoforms compared to Ara h 2 and 6. METHODS: Sensitization of 15 DBPCFC confirmed peanut allergic patients to recombinant Ara h 2...
March 14, 2018: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
Justis P Ehlers, Kevin Wang, Rishi P Singh, Amy S Babiuch, Andrew P Schachat, Alex Yuan, Jamie L Reese, Laura Stiegel, Sunil K Srivastava
Purpose: To assess the efficacy of ranibizumab for persistent diabetic macular edema (DME) previously treated with bevacizumab and compare monthly vs treat-and-extend (TAE) dosing. Design: 12-month, open-label, prospective randomized comparative dosing study. Participants: 27 participants with persistent foveal-involving DME recently treated with bevacizumab. Methods: All subjects were to receive three initial monthly 0...
March 2018: Ophthalmology Retina
Aline Souza Pagnussat, Ana F R Kleiner, Carlos R M Rieder, Anapaula Frantz, Jaira Ehlers, Camila Pinto, Gilson Dorneles, Carlos Alexandre Netto, Alessandra Peres, Manuela Galli
BACKGROUND: The decrease of Brain-Derived Neurotrophic Factor (BDNF) serum levels has been related to the pathophysiology of several neurodegenerative diseases as well as to neural plasticity and rehabilitation. Automated Mechanical Peripheral Stimulation (AMPS) has been investigated as a complementary therapy for Parkinson Disease (PD). OBJECTIVES: (1) to investigate the effects of AMPS on BDNF and Cortisol serum levels of subjects with PD; (2) to evidence the interplay between BDNF and Cortisol serum levels and the functional mobility improvement after AMPS treatment...
2018: Restorative Neurology and Neuroscience
Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-Ichi Nagai, Kenji Kurosawa
Ehlers-Danlos syndrome classical type (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24-year-old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with cEDS. A copy number variant-calling algorithm from panel sequencing data identified the deletions exons 2-11 and duplications of exons 12-67 within COL5A1...
March 9, 2018: Congenital Anomalies
Maria Roma, Colleen L Marden, Inge De Wandele, Clair A Francomano, Peter C Rowe
OBJECTIVE: To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. METHODS: We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance...
March 5, 2018: Autonomic Neuroscience: Basic & Clinical
S Daens, D Grossin, T Hermanns-Lê, D Peeters, D Manicourt
We report the history of a 15-year old patient with a hypermobile Ehlers-Danlos syndrome (hEDS) (his mother, his two brothers and his sister have the same phenotype as him). He suffers mainly from a severe mast cell activation syndrome (MCAS) with an overreaction of the skin to any kind of contact (water of the shower, clothes, bed sheets) but he has also fatigue, headaches, and rash. This impressive rash is exacerbated after the shower and he has the urge to rest («shower's sign»). We describe the MCAS and its easy, fast and very effective medication management, without any significant side effects as well as its frequent association with the hEDS...
February 2018: Revue Médicale de Liège
Amal Nishantha Vadysinghe, Chatula Usari Wickramashinghe, Dineshi Nadira Nanayakkara, Chandishni Ishara Kaluarachchi
Child abuse is a sensitive topic among many medical practitioners and the diagnosis of this entity requires awareness about conditions which can mimic physical child abuse. Here, the authors present a case of a 13-year-old school non-attendee who was referred due to multiple scars, over areas prone to accidental as well as non-accidental injury, who underwent medicolegal examination due to suspicion of physical child abuse. On further inquiry, it was discovered that she had easy bruising and poor wound healing...
January 2018: Autopsy & Case Reports
Kelli L Hicks, Peter H Byers, Elina Quiroga, Melanie G Pepin, Sherene Shalhub
OBJECTIVE: The contemporary practice of testing for genetically triggered aortic and arterial aneurysms and dissections is not well described. This study aimed to describe this practice at a tertiary care academic center and to ascertain the yield of testing in establishing the diagnosis in patients referred on the basis of clinical suspicion. METHODS: This is a retrospective cohort study of patients referred for vascular genetic testing at an academic medical center between 2010 and 2015...
March 3, 2018: Journal of Vascular Surgery
S Malm, S Maaß, U E Schaible, S Ehlers, S Niemann
LytR-cpsA-Psr (LCP) domain containing proteins fulfil important functions in bacterial cell wall synthesis. In Mycobacterium tuberculosis complex (Mtbc) strains, the causative agents of tuberculosis (TB), the genes Rv3484 and Rv3267 encode for LCP proteins which are putatively involved in arabinogalactan transfer to peptidoglycan. To evaluate the significance of Rv3484 for Mtbc virulence, we generated a deletion mutant in the Mtbc strain H37Rv and studied its survival in mice upon aerosol infection. The deletion mutant failed to establish infection demonstrating that Rv3484 is essential for growth in mice...
March 2, 2018: Scientific Reports
Tímea Kaszás, Anton Ivanov, Marietta Tóth, Peter Ehlers, Peter Langer, László Somsák
Palladium-catalyzed cross-couplings of O-peracylated and O-permethylated 2,6-anhydro-aldose tosylhydrazones with aryl halides were studied under thermic conditions in the presence of LiOtBu and phosphine ligands. The reactions gave the corresponding aryl substituted exo-glycals as mixtures of diastereomers in 11-75% yields. The transformations represent a new access to these types of glycomimetic compounds. The double bond of some aryl substituted exo-glycals was saturated to give good yields of benzylic C-glycosyl derivatives...
February 19, 2018: Carbohydrate Research
Francesca Cortini, Chiara Villa
The Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs), characterised by joint hypermobility, hyperextensibility of the skin and tissue fragility that can induce symptoms from multiple organ systems. The latest EDS nosology distinguished thirteen subtypes with an overlap of phenotypic features, making the clinical diagnosis rather difficult and highlighting the importance of molecular diagnostic confirmation. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been focused on neurological manifestations of EDS...
February 27, 2018: Seizure: the Journal of the British Epilepsy Association
Carolina Baeza-Velasco, Caroline Bourdon, Lucile Montalescot, Cécile de Cazotte, Guillem Pailhez, Antonio Bulbena, Claude Hamonet
Despite the frequent co-ocurrence of hypermobile Ehler-Danlos syndrome (hEDS) and pathological anxiety, little is known about the psychosocial and health implications of such comorbidity. Our aim was to explore the association between high levels of anxiety and psychosocial (catastrophizing, kinesiophobia, somatosensory amplification, social support and functioning), health (pain, fatigue, BMI, tobacco/alcohol use, depression, diagnosis delay, general health), and sociodemographic factors in people with hEDS...
March 1, 2018: Rheumatology International
Kristian Semjonov, Maia Salm, Tiina Lipiäinen, Karin Kogermann, Andres Lust, Ivo Laidmäe, Osmo Antikainen, Clare J Strachan, Henrik Ehlers, Jouko Yliruusi, Jyrki Heinämäki
Solid dispersions (SDs) hold a proven potential in formulating poorly water-soluble drugs. The present paper investigates the interfacial phenomena associated with the bulk powder flow, water sorption, wetting and dissolution of the SDs prepared by a modified melt and quench-cooling (QC) method. Poorly water-soluble indomethacin (IND) was QC molten with solubilizing graft copolymer (Soluplus® ) or polyol sugar alcohol (xylitol, XYL). The interfacial interactions of SDs with air/water were found to be reliant on the type (amorphous/crystalline) and amount of the carrier material used...
February 23, 2018: International Journal of Pharmaceutics
John E Mitakides
No abstract text is available yet for this article.
March 2018: Cranio: the Journal of Craniomandibular Practice
Sabrina Storgaard Sørensen, Morten Berg Jensen, Kjeld Møller Pedersen, Lars Ehlers
OBJECTIVES: To examine the heterogeneity in cost-effectiveness analyses of patient-tailored complex interventions. METHODS: Latent class analysis (LCA) was performed on data from a randomized controlled trial evaluating a patient-tailored case management strategy for patients suffering from chronic obstructive pulmonary disease (COPD). LCA was conducted on detailed process variables representing service variation in the intervention group. Features of the identified latent classes were compared for consistency with baseline demographic, clinical, and economic characteristics for each class...
February 2018: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
Gordon C Weir, Mario R Ehlers, Kristina M Harris, Sai Kanaparthi, Alice Long, Deborah Phippard, Lia J Weiner, Brett Jepson, James G McNamara, Maria Koulmanda, Terry B Strom
OBJECTIVE: To determine the safety and pharmacokinetics of alpha-1 antitrypsin (AAT) in adults and children. RESEARCH DESIGN AND METHODS: Short term AAT treatment restores euglycemia in the non-obese mouse model of type 1 diabetes. A phase I multicenter study in 16 subjects with new-onset type 1 diabetes studied the safety and pharmacokinetics of Aralast NPTM (AAT). This open-label, dose-escalation study enrolled eight adults ages 16-35 and eight children ages 8-15 within 100 days of diagnosis, to receive 12 infusions of AAT: a low dose of 45 mg/kg weekly for six weeks, followed by a higher dose of 90 mg/kg for six weeks...
February 23, 2018: Pediatric Diabetes
Claus-Peter Ernst, Richard B Price, Angelika Callaway, Alissa Masek, Hendrik Schwarm, Inga Rullmann, Brita Willershausen, Vicky Ehlers
PURPOSE: To determine the irradiance delivered by visible-light curing (VLC) units and obtain information about the exposure times and the maintenance protocols used by dentists. MATERIALS AND METHODS: The irradiance (mW/cm2) delivered by 526 VLCs from 302 dental offices from the Rhine- Main area, Germany, was measured using an integrating sphere (IS) and a MARC patient simulator (M-PS); additional information was gathered using a survey. RESULTS: Irradiance was measured from 117 standard quartz-tungsten-halogen (QTH), 5 high-power QTH, 2 LED 1stgeneration, 333 LED 2nd-generation, 61 LED 3rd-generation, and 8 plasma-arc curing (PAC) units...
February 16, 2018: Journal of Adhesive Dentistry
Andrew J Kobets, Daniel Komlos, John K Houten
BACKGROUND: Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children...
February 15, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Daisuke Ieda, Ikumi Hori, Yuji Nakamura, Hironori Ohshita, Yutaka Negishi, Tsutomu Shinohara, Ayako Hattori, Takenori Kato, Sachiko Inukai, Katsumasa Kitamura, Tomoki Kawai, Osamu Ohara, Shinji Kunishima, Shinji Saitoh
INTRODUCTION: Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently been shown to additionally have Ehlers-Danlos-like collagenopathy or macrothrombocytopenia. In an attempt to establish a clearer correlation between clinical symptoms and genotype, we have investigated a phenotype that involves thrombocytopenia in a patient with a truncation of the FLNA gene...
February 12, 2018: Brain & Development
Carolina Baeza-Velasco, Lorenzo Sinibaldi, Marco Castori
Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome...
February 14, 2018: Attention Deficit and Hyperactivity Disorders
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