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https://www.readbyqxmd.com/read/28636169/a-novel-double-nucleotide-variant-in-the-ferritin-l-iron-responsive-element-in-a-finnish-patient-with-hereditary-hyperferritinaemia-cataract-syndrome
#1
Roosa-Maria Mattila, Annele Sainio, Marketta Järveläinen, Juha Pursiheimo, Hannu Järveläinen
PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS). METHODS: Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5'-untranslated region of the FTL was used in polymerase chain reaction (PCR). Thereafter, Sanger sequencing was performed on the 487-bp and 602-bp PCR amplification products with specific primers to reveal FTL IRE mutations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28636131/state-trait-and-dental-anxiety-in-caregivers-of-individuals-with-disabilities
#2
Roberto Carlos Mourão Pinho, André Cavalcante da Silva Barbosa, Arnaldo de França Caldas-Júnior, Márcia Maria Vendiciano Barbosa Vasconcelos, Renata Cimões, Maria Teresa Botti Rodrigues Dos Santos
PURPOSE: The aim of this study was to compare state anxiety, trait anxiety, and dental anxiety in caregivers of patients with special needs and caregivers of pediatric patients without special needs at dental clinics. MATERIALS AND METHODS: A quantitative, cross-sectional study was conducted. Data were collected using a semistructured questionnaire. All respondents were older than 18 years of age. Individuals with cognitive impairment and those taking anxiolytics, antidepressants, or sleep-inducing medication were excluded from the study...
June 21, 2017: Special Care in Dentistry
https://www.readbyqxmd.com/read/28635620/anomalous-dielectric-response-of-short-hydrogen-bonds-under-pressure-the-case-of-mn-fe-sup-2-sup-alpo-sub-4-sub-oh-sub-2-sub-h-sub-2-sub-o
#3
Benedikt Röska, So-Hyun Park, Yusuke Yoshimori, Kenta Kimura, Tsuyoshi Kimura
An anomalous increase in the real part of dielectric response is observed in Mn<sub>0.5</sub>Fe<sub>0.5</sub>AlPO<sub>4</sub>(OH)<sub>2</sub>H<sub>2</sub>O while cooling to ~70 K. This is addressed to field-induced proton dynamics in a short hydrogen bond of 2.480(3) Å. The absence of discontinuities in heat capacity curves above the Néel temperature (T<sub>N</sub> ≈ 7 K) excludes a paraelectric to antiferroelectric phase transition...
June 21, 2017: Journal of Physics. Condensed Matter: An Institute of Physics Journal
https://www.readbyqxmd.com/read/28635573/-colonic-ischaemia-a-condition-with-an-atypical-clinical-presentation-timely-recognition-and-treatment-improve-prognosis
#4
E J A Rondagh, S A Oei, D Goudkade, A A M Masclee, J W Kruimel
The incidence of colonic ischaemia has risen in recent decades because of the ageing population. Patients with colonic ischaemia present with mild abdominal pain, rectal blood loss and/or diarrhoea. However, no pathognomonic signs have been described. Signs of peritonitis are often absent and serum lactate may be normal. This makes prompt recognition and diagnosis difficult, while early treatment with close monitoring is important to optimise prognosis. Computed tomography may have suggestive findings and exclude other causes of abdominal pain, but endoscopy remains the gold standard for confirming the diagnosis...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28635424/genome-wide-linkage-and-haplotype-sharing-analysis-implicates-the-mcdr3-locus-as-a-candidate-region-for-a-developmental-macular-disorder-in-association-with-digit-abnormalities
#5
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
BACKGROUND: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 (MCDR3) has been implicated in a similar phenotype, but the disease-causing mechanism still remains unknown. METHODS: Two families affected by a dominant developmental macular disorder that closely resembles NCMD in association with digit abnormalities were included in the study...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635374/sepsis-favors-high-on-clopidogrel-platelet-reactivity
#6
Karolina Akinosoglou, Angelos Perperis, Spyridoula Theodoraki, Dimitrios Alexopoulos, Charalambos Gogos
High-on-treatment platelet reactivity (HPR) is associated with ischemic events in patients on antiplatelet therapy with a history of cardiovascular disease. On the other hand, recent data have associated sepsis with adverse cardiovascular events in patients admitted with bacteremia or respiratory infection. We aimed to assess P2Y12-mediated platelet reactivity (PR) during sepsis and recovery in patients under clopidogrel. This was a prospective observational study. Incoming patients presenting with signs/symptoms of sepsis already on a maintenance dose of clopidogrel of 75 mg qd for cardiovascular events were included in this study...
June 21, 2017: Platelets
https://www.readbyqxmd.com/read/28634767/including-people-with-dementia-in-research-an-analysis-of-australian-ethical-and-legal-rules-and-recommendations-for-reform
#7
Nola M Ries, Katie A Thompson, Michael Lowe
Research is crucial to advancing knowledge about dementia, yet the burden of the disease currently outpaces research activity. Research often excludes people with dementia and other cognitive impairments because researchers and ethics committees are concerned about issues related to capacity, consent, and substitute decision-making. In Australia, participation in research by people with cognitive impairment is governed by a national ethics statement and a patchwork of state and territorial laws that have widely varying rules...
June 20, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/28634754/value-of-endometrial-thickness-assessed-by-transvaginal-ultrasound-for-the-prediction-of-endometrial-cancer-in-patients-with-postmenopausal-bleeding
#8
Amelie Schramm, Florian Ebner, Emanuel Bauer, Wolfgang Janni, Ulrike Friebe-Hoffmann, Miriam Pellegrino, Nikolaus De Gregorio, Thomas W P Friedl
PURPOSE: Histological confirmation of endometrial cancer by dilatation/curettage (D/C) in women with postmenopausal bleeding (PMB) can be challenging due to anesthesiological and/or surgical risks. Thus, less invasive methods for diagnostics are required to identify patients with minimal risk for endometrial cancer (EC) to avoid unnecessary surgical intervention. The objective of this single-center cohort study was to assess the diagnostic validity of transvaginal ultrasound (TVUS) measurements of endometrial thickness (ET) in patients with PMB for the detection of EC...
June 20, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28634678/the-iliac-crest-in-forensic-age-estimation-evaluation-of-three-methods-in-pelvis-x-rays
#9
Viola Bartolini, Vilma Pinchi, Barbara Gualco, Stefano Vanin, Giusto Chiaracane, Giovanni D'Elia, Gian-Aristide Norelli, Martina Focardi
Age assessment in children and young adults is a relevant forensic issue. It is requested not only in evaluating criminal responsibility in youths without proper identification documents, often in relation to age thresholds, but also for release of a residency permit, and asylum seekers of minors. The analysis of the Risser sign and the iliac crest ossification process has been proposed as a useful tool for forensic age estimation. We evaluated the applicability of three different age estimation methods on a sample of 497 pelvic radiographs of Italian individuals between 10 and 25 years of age...
June 20, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28634675/wild-capuchin-monkeys-anticipate-the-amount-of-ripe-fruit-in-natural-trees
#10
María Paula Tujague, Charles H Janson
Tropical forests have a high diversity of tree species which have very low densities and vary across time in their seasons of peak fruiting and maturation rates. As evidence of the ability of primates to track or anticipate changes in fruit production at individual trees, researchers have used the increased speed of primate groups toward more rewarding food patches. We analyzed the speed of approach to natural trees of wild capuchin monkeys under the effect of scramble competition, after excluding any plausible visual, olfactory and auditory cues...
June 20, 2017: Animal Cognition
https://www.readbyqxmd.com/read/28634574/reducing-viability-bias-in-analysis-of-gut-microbiota-in-preterm-infants-at-risk-of-nec-and-sepsis
#11
Gregory R Young, Darren L Smith, Nicholas D Embleton, Janet E Berrington, Edward C Schwalbe, Stephen P Cummings, Christopher J van der Gast, Clare Lanyon
Necrotising enterocolitis (NEC) and sepsis are serious diseases of preterm infants that can result in feeding intolerance, the need for bowel resection, impaired physiological and neurological development, and high mortality rates. Neonatal healthcare improvements have allowed greater survival rates in preterm infants leading to increased numbers at risk of developing NEC and sepsis. Gut bacteria play a role in protection from or propensity to these conditions and have therefore, been studied extensively using targeted 16S rRNA gene sequencing methods...
2017: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/28634172/identifying-an-oxygenation-index-threshold-for-increased-mortality-in-acute-respiratory-failure
#12
Brandon G Hammond, Pamela Garcia-Filion, Paul Kang, Mounica Y Rao, Brigham C Willis, Heidi J Dalton
BACKGROUND: The objective of this work was to examine current oxygenation index (OI) data and outcomes using electronic medical record data to identify a specific OI value associated with mortality. METHODS: This study was a retrospective electronic medical record data review from the pediatric ICU of Phoenix Children's Hospital, with data mining for variables to calculate OIs on subjects age 1 month to 20 y mechanically ventilated >24 h, excluding those with known intracardiac shunts or cyanotic heart disease...
June 20, 2017: Respiratory Care
https://www.readbyqxmd.com/read/28634025/impaired-cerebral-autoregulation-in-preoperative-newborn-infants-with-congenital-heart-disease
#13
Jodie K Votava-Smith, Christopher J Statile, Michael D Taylor, Eileen C King, Jesse M Pratt, David P Nelson, Erik C Michelfelder
OBJECTIVES: To characterize cerebral autoregulation (CA) in preoperative newborn infants with congenital heart disease (CHD). METHODS: This was a prospective, pilot study of term newborns with CHD who required intensive care. Continuous mean arterial blood pressure (MAP), cerebral tissue oxygen saturation (SCTO2) via near-infrared spectroscopy, and arterial oxygen saturation (SaO2) were collected. Significant low-frequency coherence between MAP and SCTO2 was used to define impaired CA in 20-minute epochs...
May 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28633779/differences-in-classification-between-mono-and-polytrauma-and-low-%C3%A2-and-high-energy-trauma-patients-with-an-ankle-fracture-a%C3%A2-retrospective-cohort-study
#14
Jan Paul Briet, Roderick Marijn Houwert, Diederik P J Smeeing, Marcel G W Dijkgraaf, Egbert Jan Verleisdonk, Luke P H Leenen, Falco Hietbrink
Although fracture type and treatment options for ankle fractures are well defined, the differences between mono- and polytrauma patients and low- and high-energy trauma have not been addressed. The aim of the present study was to compare the fracture type and trauma mechanism between mono- and polytrauma and low- and high-energy trauma patients with an ankle fracture. We performed a single-center retrospective cohort study. Fractures were classified according to the Lauge-Hansen classification and a descriptive classification...
July 2017: Journal of Foot and Ankle Surgery: Official Publication of the American College of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/28633673/the-influence-of-total-hysterectomy-in-a-cervical-cancer-screening-population-a-register-based-cross-sectional-study
#15
Mette Bach Larsen, Ellen M Mikkelsen, Ulla Jeppesen, Hans Svanholm, Berit Andersen
BACKGROUND: High coverage of a screening program is essential to program success. Many European screening programs cover only 10-80% of their target population. A possible explanation for the low coverage may be that some women in the screening population have had a total hysterectomy, thus they are not at risk of cervical cancer. The aim of this study was to identify the prevalence of hysterectomy in the target population of the Danish National Cervical Cancer Screening Program (NCCSP) and to recalculate coverage after excluding women with total hysterectomy...
June 20, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28633639/fusobacterial-liver-abscess-a-case-report-and-review-of-the-literature
#16
Dilip Jayasimhan, Linus Wu, Paul Huggan
BACKGROUND: Fusobacteriae are facultative anaerobic gram-negative bacilli which cause a range of invasive infections, amongst which pyogenic liver abscesses are rare. We describe a case of Fusobacterium nucleatum liver abscess and review the relevant literature. CASE PRESENTATION: A 51-year-old lady presented with a 4-day history of abdominal pain, diarrhoea, fever, rigors, and lethargy. Imaging revealed an abscess which was drained. Cultures of the blood and abscess aspirate grew Fusobacterium nucleatum and Prevotella pleuritidis respectively...
June 20, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28633585/lipoprotein-a-activated-immunity-insulin-resistance-and-new-onset-diabetes
#17
Ayşem Kaya, Altan Onat, Hüsniye Yüksel, Günay Can, Murat Yüksel, Evin Ademoğlu
OBJECTIVES: Some evidence suggests that serum lipoprotein[Lp](a) may be inversely linked to type-2 diabetes. We aimed to determine in nondiabetic people the relationship of serum [Lp](a) with insulin resistance and new-onset diabetes (NOD). MATERIALS AND METHODS: Population-based middle-aged adults (n=1685) were categorized by fasting glucose and stratified to gender, having excluded prevalent diabetic subjects. NOD (n=90) occurred over a median 5 years' follow-up...
June 21, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28633580/platinum-agents-and-mitomycin-c-specific-complications-in-cytoreductive-surgery-crs-and-hyperthermic-intraperitoneal-chemotherapy-hipec
#18
Grace Hwei Ching Tan, Nicholas B Shannon, Claramae Shulyn Chia, Khee Chee Soo, Melissa Ching Ching Teo
INTRODUCTION: Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) have been found to prolong survival in patients with peritoneal disease but is associated with significant morbidity. We evaluate the perioperative complications and the association with the chemotherapy agent used for HIPEC. METHODS: Retrospective analysis of a prospectively collected database of CRS-HIPEC cases between April 2001 and February 2016 was performed. Patients were stratified by the chemotherapy used, and perioperative complications were compared...
June 20, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28633478/efficacy-of-3d-transoesophageal-echocardiography-for-transcatheter-device-closure-of-atrial-septal-defect-without-balloon-sizing
#19
Jeong Yoon Jang, Ran Heo, Min Soo Cho, Jaeseok Bae, Jung Ae Hong, Sahmin Lee, Jung-Min Ahn, Duk-Woo Park, Dae-Hee Kim, Duk-Hyun Kang, Jae-Kwan Song, Jong-Min Song
Aims: Using balloon sizing to determine device size may cause complications and increase procedure time in performing transcatheter closure of atrial septal defect (ASD). We aimed to validate the clinical utility of a formula using measurements from 3D transoesophageal echocardiography (TOE) images in performing the procedure without balloon sizing. Methods and results: We enrolled 248 consecutive patients with ASD in a prospective registry. In the first tier (n = 53), we determined the device size before the procedure using our formula and performed balloon sizing during the procedure to verify our decision...
June 19, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28633393/outcomes-of-palliative-right-ventricle-to-pulmonary-artery-connection-for-pulmonary-atresia-with-ventricular-septal-defect%C3%A2
#20
Marien Lenoir, Margaux Pontailler, Régis Gaudin, Sébastien Gerelli, Daniel Tamisier, Damien Bonnet, Bari Murtuza, Pascal R Vouhé, Olivier Raisky
OBJECTIVES: To determine the early, intermediate and long-term outcomes of pulmonary atresia with ventricular septal defect (PA/VSD) Types I, II and III initially palliated by a right ventricle to pulmonary artery (RVPA) connection. METHODS: We performed a retrospective study from 2000 to 2014 that included 109 patients with PA/VSD who had undergone an RVPA connection (tetralogy of Fallot and PA/VSD Type IV excluded). The end-points of this strategy were adequate pulmonary artery tree post-palliation, second palliation, biventricular repair, right ventricular pressure post-biventricular repair and late reoperation...
June 15, 2017: European Journal of Cardio-thoracic Surgery
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