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https://www.readbyqxmd.com/read/28742517/type-1-rhizomelic-chondrodysplasia-punctata-with-a-homozygous-pex7-mutation
#1
Nursel Muratoğlu Şahin, Meliha Esra Bilici, Erdal Kurnaz, Melek Pala Akdoğan, Serdar Ceylaner, Zehra Aycan
INTRODUCTION: Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type...
July 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28741983/-taking-care-in-the-age-of-aids-older-rural-south-africans-strategies-for-surviving-the-hiv-epidemic
#2
Nicole Angotti, Sanyu A Mojola, Enid Schatz, Jill R Williams, F Xavier Gómez-Olivé
Older adults have been largely overlooked in community studies of HIV in highly endemic African countries. In our rural study site in Mpumalanga Province, South Africa, HIV prevalence among those aged 50 and older is 16.5%, suggesting that older adults are at risk of both acquiring and transmitting HIV. This paper utilises community-based focus-group interviews with older rural South African men and women to better understand the normative environment in which they come to understand and make decisions about their health as they age in an HIV endemic setting...
July 25, 2017: Culture, Health & Sexuality
https://www.readbyqxmd.com/read/28741680/evaluating-social-pragmatic-communication-disorder
#3
William Mandy, Adele Wang, Irene Lee, David Skuse
BACKGROUND: Social (pragmatic) communication disorder (SPCD) is a new diagnosis introduced by DSM-5, characterised by problems with verbal and nonverbal social communication. It is currently unclear whether SPCD is a valid diagnostic category, because little is known about the characteristics of those who meet its criteria. We sought to identify and describe cases of SPCD, to contribute to debates about its validity. We investigated whether the symptoms of SPCD cluster together to form a coherent syndrome that is distinct from autism spectrum disorder (ASD) in terms of its core and associated features...
July 25, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28741654/the-iadpsg-diagnostic-criteria-identify-women-with-increased-risk-of-adverse-pregnancy-outcomes-in-victoria
#4
Sally K Abell, Helena J Teede
Controversy remains surrounding International Association of Diabetes and Pregnancy Study Group (IADPSG) diagnostic criteria for gestational diabetes mellitus (GDM), including perceived improvement in perinatal outcomes and health service implications. We compared perinatal outcomes for untreated women meeting IADPSG-only criteria and women without GDM in Victoria. Women meeting IADPSG-only criteria were characterised according to fasting and one hour glucose thresholds and by region of birth. IADPSG criteria identified women with increased risk of adverse perinatal outcomes, particularly women born in Australia compared to Asian regions...
July 25, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28741386/cloning-expression-and-purification-of-the-%C3%AE-carbonic-anhydrase-from-the-mantle-of-the-mediterranean-mussel-mytilus-galloprovincialis
#5
Rosa Perfetto, Sonia Del Prete, Daniela Vullo, Vincenzo Carginale, Giovanni Sansone, Carmela M A Barone, Mosè Rossi, Fatmah A S Alasmary, Sameh M Osman, Zeid AlOthman, Claudiu T Supuran, Clemente Capasso
We cloned, expressed, purified, and determined the kinetic constants of the recombinant α-carbonic anhydrase (rec-MgaCA) identified in the mantle tissue of the bivalve Mediterranean mussel, Mytilus galloprovincialis. In metazoans, the α-CA family is largely represented and plays a pivotal role in the deposition of calcium carbonate biominerals. Our results demonstrated that rec-MgaCA was a monomer with an apparent molecular weight of about 32 kDa. Moreover, the determined kinetic parameters for the CO2 hydration reaction were kcat =  4...
December 2017: Journal of Enzyme Inhibition and Medicinal Chemistry
https://www.readbyqxmd.com/read/28741233/how-to-identify-high-risk-aps-patients-clinical-utility-and-predictive-values-of-validated-scores
#6
REVIEW
Kenji Oku, Olga Amengual, Shinsuke Yasuda, Tatsuya Atsumi
PURPOSE OF REVIEW: Antiphospholipid syndrome (APS) is a clinical disorder characterised by thrombosis and/or pregnancy morbidity in the persistence of antiphospholipid (aPL) antibodies that are pathogenic and have pro-coagulant activities. Thrombosis in APS tends to recur and require prophylaxis; however, the stereotypical treatment for APS patients is inadequate and stratification of the thrombotic risks is important as aPL are prevalently observed in various diseases or elderly population...
August 2017: Current Rheumatology Reports
https://www.readbyqxmd.com/read/28740754/the-time-course-of-broiler-intestinal-microbiota-development-after-administration-of-cecal-contents-to-incubating-eggs
#7
Erin E Donaldson, Dragana Stanley, Robert J Hughes, Robert J Moore
BACKGROUND: The microbial populations that inhabit the gastrointestinal tract (GIT) are known to influence the health and growth performance of the host. Clean hatcheries and machine-based incubation practices in the commercial poultry industry can lead to the acquisition of aberrant microbiota in the GIT of chickens and a very high level of bird-to-bird variation. The lack of microbial profile flock uniformity presents challenges for harnessing and manipulating intestinal bacteria to better serve the host...
2017: PeerJ
https://www.readbyqxmd.com/read/28739777/establishment-of-a-comprehensive-drug-overdose-fatality-surveillance-system-in-kentucky-to-inform-drug-overdose-prevention-policies-interventions-and-best-practices
#8
Sarah L Hargrove, Terry L Bunn, Svetla Slavova, Dana Quesinberry, Tracey Corey, William Ralston, Michael D Singleton, Van Ingram
BACKGROUND: According to the National Center for Health Statistics, Kentucky had the third highest drug overdose fatality rate in the nation in 2015 at 29.9 drug overdose fatalities per 100 000 population. OBJECTIVE: The elevated drug overdose fatality rate necessitated the development and implementation of a comprehensive multisource drug overdose fatality surveillance system (DOFSS). METHODS: DOFSS stakeholder work group members and data sources were identified, and memorandums of understanding were established...
July 24, 2017: Injury Prevention: Journal of the International Society for Child and Adolescent Injury Prevention
https://www.readbyqxmd.com/read/28739717/potential-implication-of-paxillin-in-cancer-establishment-within-the-bone-environment
#9
Anna D Sobkowicz, Andrew J Sanders, Malcolm D Mason, Wen G Jiang
BACKGROUND: Bone metastases are a common feature of advanced prostatic malignancies. They are characterised by a unique prevalence of osteoblastic phenotype and a poor prognosis. Paxillin is a 68-kDa signal transduction adaptor and scaffold protein that contains motifs involved in the mediation of protein-protein interactions. The state of paxillin phosphorylation is central to determining a cell's ability to adhere, detach and migrate and hence has been linked to processes such as wound repair and tumour metastasis...
August 2017: Anticancer Research
https://www.readbyqxmd.com/read/28739571/splice-variants-of-ph-sensitive-chloride-channel-identify-a-key-determinant-of-ivermectin-sensitivity-in-the-larvae-of-the-silkworm-bombyx-mori
#10
Daiki Okuhara, Shogo Furutani, Katsuhiko Ito, Makoto Ihara Ihara, Kazuhiko Matsuda
The pH-sensitive chloride channels (pHCls) are broadly expressed in insects, but little is known about their physiological role, diversity and sensitivity to insecticides acting on relevant chloride channels. Here we have sequenced 50 transcripts of the pHCl-1 gene from the brain, third thoracic ganglion (T3G) and midgut of larvae of silkworm Bombyx mori. It was found that >50 variants were expressed with distinct splicing in the T3G compared to the brain and midgut. Of the variants detected, variant 9, which was expressed most abundantly in the larvae, was reconstituted in Xenopus laevis oocytes to characterise its pH- and ivermectin sensitivity...
July 24, 2017: Molecular Pharmacology
https://www.readbyqxmd.com/read/28739565/unusual-genitourinary-tract-activity
#11
Eoin MacCraith, Niall F Davis, James Forde
A 23-year-old woman presented to the emergency department after manually inserting foreign bodies into the urinary bladder through her urethra. A plain abdominal film of the kidneys, ureters and bladder confirmed three radio-opaque densities in the urinary bladder. She was taken to the operating room where cystourethroscopy was performed. At cystoscopy 2 'corn-on-the-cob' skewers and 1 battery were identified but were too large to be retrieved safely with a grasper through the protective sheath. The objects were grasped with a 'sponge-holding forceps' (placed alongside the cystoscope) and extracted one at a time...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28739564/silent-tracheobronchial-chondritis-in-a-patient-with-a-delayed-diagnosis-of-relapsing-polychondritis
#12
Faraz Afridi, Seema Frosh
Relapsing polychondritis is a very rare autoimmune disease characterised by a relapsing inflammation of hyaline, elastic and fibrous cartilaginous tissues. The incidence is estimated to be between 3.5 and 4.5 per million people per year. Clinical signs and symptoms can be very subtle, and if left undiagnosed for a prolonged period, airway involvement can cause fibrosis of the tracheobronchial wall, leading to a fixed tracheobronchial stenosis. Eventually, this can progress to life-threatening tracheobronchomalacia due to irreversible damage and loss of tissue integrity...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28739563/efficacy-of-new-low-dose-oral-anticoagulants-in-recalcitrant-livedoid-vasculopathy
#13
Fumina Furukawa, Megumi Mizawa, Teruhiko Makino, Tadamichi Shimizu
Livedoid vasculopathy (LV) is a thrombotic skin disease characterised by recurrent painful ulcerations and irreversible scar formation on the lower legs, which is caused by occlusion of the cutaneous microcirculation. Edoxaban is one of new oral anticoagulants. It directly inhibits factor Xa in the coagulation pathway and prevents thrombus formation. A 17-year-old Japanese male presented with a 1-year history of recalcitrant cutaneous ulcers and livedo racemosa on his lower extremities. Initially, the ulcers were treated with antiplatelets therapies; however, he experienced recurrence of ulcerations during summer time...
July 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28739171/efficacy-of-ultrasound-mammography-and-magnetic-resonance-imaging-in-detecting-breast-implant-rupture-a-retrospective-study-of-175-reconstructive-and-aesthetic-sub-pectoral-breast-augmentation-cases
#14
Alessio Stivala, Kessara Rem, Sara Leuzzi, Vivien Moris, Caroline François, Marc Revol, Sarra Cristofari
To date, the effectiveness of radiological imaging in detecting silicone breast implant rupture is uncertain. The purpose of this study is to retrospectively evaluate the effectiveness of radiological imaging when diagnosing a rupture. In this study, 175 patients with 242 breast implants were included, of which 168 and 74 implants were used for breast reconstruction and aesthetic augmentation, respectively. All patients who underwent revision surgery, between January 2015 and June 2016, following breast augmentation or reconstruction were included, regardless of any pre-operative diagnosis of rupture that had been made...
June 3, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28739022/component-resolved-diagnosis-in-hymenoptera-allergy
#15
REVIEW
D Antolín-Amérigo, B Ruiz-León, E Boni, T Alfaya-Arias, M Álvarez-Mon, J Barbarroja-Escudero, D González-de-Olano, C Moreno-Aguilar, M Rodríguez-Rodríguez, M J Sánchez-González, L Sánchez-Morillas, A Vega-Castro
Component-resolved diagnosis based on the use of well-defined, properly characterised and purified natural and recombinant allergens constitutes a new approach in the diagnosis of venom allergy. Prospective readers may benefit from an up-to-date review on the allergens. The best characterised venom is that of Apis mellifera, whose main allergens are phospholipase A2 (Api m1), hyaluronidase (Api m2) and melittin (Api m4). Additionally, in recent years, new allergens of Vespula vulgaris have been identified and include phospholipase A1 (Ves v1), hyaluronidase (Ves v2) and antigen 5 (Ves v5)...
July 21, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28738858/erythema-nodosum-masking-nephrogenic-systemic-fibrosis-as-initial-skin-manifestation
#16
Kar Wah Fuah, Christopher Thiam Seong Lim
BACKGROUND: Nephrogenic systemic fibrosis (NSF) is a complication of the gadolinium-based contrast agent used in imaging studies. It is typically characterised by hard, erythematous and indurated skin plaques with surrounding subcutaneous oedema. Distinct papules and subcutaneous nodules can also be seen. Fibrocytes in NSF are immunohistochemically positive for CD34. CASE PRESENTATION: We present a case of NSF occurred after gadolinium exposure in which the initial presentation mimics an erythema nodosum (EN)-like picture...
July 24, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28738802/histological-and-transcriptomic-effects-of-17%C3%AE-methyltestosterone-on-zebrafish-gonad-development
#17
Stephanie Ling Jie Lee, Julia A Horsfield, Michael A Black, Kim Rutherford, Amanda Fisher, Neil J Gemmell
BACKGROUND: Sex hormones play important roles in teleost ovarian and testicular development. In zebrafish, ovarian differentiation appears to be dictated by an oocyte-derived signal via Cyp19a1a aromatase-mediated estrogen production. Androgens and aromatase inhibitors can induce female-to-male sex reversal, however, the mechanisms underlying gonadal masculinisation are poorly understood. We used histological analyses together with RNA sequencing to characterise zebrafish gonadal transcriptomes and investigate the effects of 17α-methyltestosterone on gonadal differentiation...
July 24, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28738756/nostalgia-s-place-among-self-relevant-emotions
#18
Wijnand A P van Tilburg, Tim Wildschut, Constantine Sedikides
How is nostalgia positioned among self-relevant emotions? We tested, in six studies, which self-relevant emotions are perceived as most similar versus least similar to nostalgia, and what underlies these similarities/differences. We used multidimensional scaling to chart the perceived similarities/differences among self-relevant emotions, resulting in two-dimensional models. The results were revealing. Nostalgia is positioned among self-relevant emotions characterised by positive valence, an approach orientation, and low arousal...
July 24, 2017: Cognition & Emotion
https://www.readbyqxmd.com/read/28738728/job-task-characteristics-of-australian-emergency-services-volunteers-during-search-and-rescue-operations
#19
Aaron Silk, Gavin Lenton, Robbie Savage, Brad Aisbett
Search and rescue operations are necessary in locating, assisting and recovering individuals lost or in distress. In Australia, land-based search and rescue roles require a range of physically demanding tasks undertaken in dynamic and challenging environments. The aim of the current research was to identify and characterise the physically demanding tasks inherent to search and rescue operation personnel within Australia. These aims were met through a subjective job task analysis approach. In total, 11 criterion tasks were identified by personnel...
July 25, 2017: Ergonomics
https://www.readbyqxmd.com/read/28738644/biosensor-for-the-characterisation-of-hmao-b-inhibitors-and-the-quantification-of-selegiline
#20
Maximilian Aigner, Patricia Preissegger, Kurt Kalcher, Eda Mehmeti, Peter Macheroux, Dale Edmondson, Astrid Ortner
A novel human monoamine oxidase B (hMAO B) based biosensor for inhibitory measurements was developed. It allows both the characterisation of the type of enzyme inhibition and the sensitive and simple determination of inhibitors like selegiline hydrochloride. The sensor consists of a screen printed carbon working electrode modified with 20% manganese dioxide (MnO2) and the enzyme hMAO B, which was immobilised on the electrode via a dialysis membrane (regenerated cellulose, molecular weight cut-off 14000). Inhibition of hMAO B is evaluated by adding different concentrations of the inhibitor selegiline hydrochloride to the enzyme and applying a defined amount of the hMAO B substrate phenylethylamine (PEA)...
November 1, 2017: Talanta
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