bluuebunny/crossref_metadata_2025_split huggingface dataset:
Telehealth in paediatric orthopaedic surgery in Queensland: a 10‐year review
Authors: Rowell Philip D. , Pincus Paul , White Megan , Smith Anthony C. 
Published: July 2014

AbstractBackgroundTelemedicine is a patient consultation method commonly available to patients in rural and remote areas throughout Australia. Its use in paediatric orthopaedics has been rarely described. The primary aim of this study was to identify the patient cohort accessing the orthopaedic paediatric telehealth service through the Royal Children's Hospital Queensland, so as to better allocate this resource. The secondary aims were to identify the orthopaedic conditions the patients utilizing this service suffered and to follow‐up on treatment outcomes to potentially assess clinical benefit.MethodA retrospective review of prospectively collected data of paediatric orthopaedic patients consulted using telehealth at the Royal Children's Hospital, Queensland over a 10‐year period between January 2004 and September 2012 was conducted.ResultsOne hundred and twenty‐six patient records were assessed with a mean age of 6 years. Results showed that 40% of patients seen using telehealth in paediatric orthopaedics had documented cerebral palsy, an intellectual disability or congenital syndrome. Common paediatric orthopaedic conditions were seen, with lower limb malalignment being the most common presenting complaint. About 58% of patients were seen exclusively via telehealth and did not require in‐person consultation or operative therapy.ConclusionWe found that the orthopaedic telepaedriatic consultation service at the Royal Children's Hospital reviewed a large proportion of patients with a known disability. We believe there is a role for telehealth medicine for all patients; however, we propose that even greater benefit can be obtained from telehealth consultation in patients with a disability where the cost and inconvenience of patient transport is considerably increased.
Is recurrent miscarriage a useful clinical concept?
Authors: Vlaanderen Willem 
Published: July 2014

AbstractMany treatments have been used to increase the chances of an ongoing pregnancy after recurrent miscarriage (RM). Yet no clear evidence for an effective intervention has been found. Therefore, the clinical concept RM should be reconsidered. Both the statistical and clinical bases for RM are poor. If the individual risk is taken into account, then simple calculations explain the observed frequency of RM. Most miscarriages, either sporadic or recurrent, are abnormal in construction or development. Although some risk factors for miscarriage have been identified, such as age and number of previous miscarriages, the importance of other factors remains uncertain. RM has a favorable prognosis: the cumulative live birth rate is usually over 90% after two or three more attempts. So maternal systemic pathology does not seem to play a major role in the cause of RM. Little benefit can be expected from any intervention aimed at increasing the chance of a live birth. RM does not appear to be a real pathological entity that requires a special explanation. Moral support should replace medical interventions in most cases.
Refractive, anterior corneal and internal astigmatism in the pseudophakic eye
Authors: Bregnhøj Jesper F. , Mataji Pourang , Næser Kristian 
Published: July 2014

AbstractPurposeTo evaluate the correlation between refractive astigmatism (RA) and anterior corneal astigmatism (ACA), and determine the internal astigmatism (IA) in 184 pseudophakic eyes.MethodsThe study was a prospective non‐masked single‐centre study. Patients were examined 8 weeks after phacoemulsification with implantation of aspheric one‐piece monofocal IOLs. Examination included autokeratometry and subjective refraction. All refractive data were converted to the corneal plane. The corneal refractive index, taken to be 1.376, was used to estimate the ACA. All astigmatisms were converted to net curvital and net torsional powers with the steeper corneal plane as the reference meridian. Curvital power is the force acting along a given meridian, and torsion is the power twisting the astigmatic direction out of that plane. The internal astigmatism (IA) was calculated as the difference between RA and ACA.ResultsFor curvital powers, the refractive astigmatism (KP(Φ)RA) could be described as a function of anterior corneal astigmatic magnitude (KP(Φ)ACA) and direction α by the multiple linear regression equation: KP(Φ)RA = −0.09 + 0.61*KP(Φ)ACA + 0.33*cos2α, (r2 = 0.59, p < 0.0001). The average internal astigmatism amounted to 0.47 D inclined 92° relative to the steeper anterior corneal meridian. The magnitude of internal astigmatism depended on the angle α of the steeper anterior corneal meridian, averaging 0.86 D at 91° for with‐the‐rule, 0.37 D at 95° for oblique and 0.17 D at 97° for against‐the‐rule corneal astigmatisms.ConclusionsThe internal astigmatism varies as a function of the direction of the anterior steeper corneal meridian. In patient candidates to surgical correction of astigmatism, measuring only the curvature of the anterior corneal surface and neglecting that of the posterior corneal surface can lead to inaccurate evaluation of total corneal astigmatism.
Update in intracranial pressure evaluation methods and translaminar pressure gradient role in glaucoma
Authors: Siaudvytyte Lina , Januleviciene Ingrida , Ragauskas Arminas , Bartusis Laimonas , Siesky Brent , Harris Alon 
Published: July 2014

AbstractGlaucoma is one of the leading causes of blindness worldwide. Historically, it has been considered an ocular disease primary caused by pathological intraocular pressure (IOP). Recently, researchers have emphasized intracranial pressure (ICP), as translaminar counter pressure against IOP may play a role in glaucoma development and progression. It remains controversial what is the best way to measure ICP in glaucoma. Currently, the ‘gold standard’ for ICP measurement is invasive measurement of the pressure in the cerebrospinal fluid via lumbar puncture or via implantation of the pressure sensor into the brains ventricle. However, the direct measurements of ICP are not without risk due to its invasiveness and potential risk of intracranial haemorrhage and infection. Therefore, invasive ICP measurements are prohibitive due to safety needs, especially in glaucoma patients. Several approaches have been proposed to estimate ICP non‐invasively, including transcranial Doppler ultrasonography, tympanic membrane displacement, ophthalmodynamometry, measurement of optic nerve sheath diameter and two‐depth transcranial Doppler technology. Special emphasis is put on the two‐depth transcranial Doppler technology, which uses an ophthalmic artery as a natural ICP sensor. It is the only method which accurately and precisely measures absolute ICP values and may provide valuable information in glaucoma.
Evaluation of new guidelines for ROP screening in Sweden using SWEDROP – a national quality register
Authors: Holmström Gerd , Hellström Ann , Jakobsson Peter , Lundgren Pia , Tornqvist Kristina , Wallin Agneta 
Published: July 2014

AbstractPurposeTo investigate whether recent Swedish guidelines for Retinopathy of Prematurity (ROP) screening, that is, a gestational age (GA) at birth of <31 weeks (w), are applicable in a new national cohort of prematurely born infants.MethodsSWEDROP is a national register for ROP, initiated in 2006. The present paper reports on data from the register on various aspects of screening for ROP in infants born between 2010 and 2011 and compares the results with those for a previously published cohort born between 2008 and 2009.ResultsDuring the study period, 1744 infants were screened for ROP. Mean GA was 28.4 w (22–31), and mean birth weight was 1239 g (382–2615). Screening started at postnatal age (PNA) 5.4 w (0.4–13.3) and postmenstrual age (PMA) 33.8 w (24.9–50.1) Mean number of examinations was 5.4 per infant (1–38).Mild (stages 1–2) and severe (≥ stage 3) ROP was found in 15.4% and 8.7%, respectively. Treatment was performed in 4.2% (73/1744) of the infants, but in none with a GA of 30 weeks or more. The first treatment was performed at a mean PNA and PMA of 12.7 w (7.7–25.4) and 37.4 w (32.1–51.4), respectively.ConclusionsRecently introduced new guidelines for ROP screening in Sweden remain applicable. Reassuringly, in infants born between 2010 and 2011, incidence of ROP, frequency and timing of treatment, frequency and timing of examinations and national coverage of ROP screening remained almost identical to those for a previous cohort from 2008 to 2009. The two SWEDROP cohorts provide a basis for discussion among Swedish ophthalmologists and neonatologists on the question of further lowering the upper screening limit with 1 week.
Pharmacokinetics and pharmacodynamics of the cathepsin S inhibitor, LY3000328, in healthy subjects
Authors: Payne Christopher D. , Deeg Mark A. , Chan Melanie , Tan Lai Hock , LaBell Elizabeth Smith , Shen Tong , DeBrota David J. 
Published: July 2014

AimThe aim of this study was to assess the safety and tolerability, pharmacokinetics and pharmacodynamics of LY3000328 when administered as single escalating doses to healthy volunteers.MethodsThis was a phase 1, placebo‐controlled, dose escalation study with LY3000328 in 21 healthy male volunteers. Subjects were administered escalating LY3000328 doses up to 300 mg with food in this single dose study. Blood samples were collected at set times post‐dose for the assessment of LY3000328 pharmacokinetics and the measurement of cathepsin S (CatS) activity, CatS mass and calculated CatS specific activity.ResultsAll doses of LY3000328 were well tolerated, with linear pharmacokinetics up to the 300 mg dose. The pharmacodynamic activity of LY3000328 was measured ex vivo showing a biphasic response to LY3000328, where CatS activity declines, then returns to baseline, and then increases to a level above baseline. CatS mass was also assessed post‐dose which increased in a dose‐dependent manner, and continued to increase after LY3000328 had been cleared from the body. CatS specific activity was additionally calculated to normalize CatS activity for changes in CatS mass. This demonstrated the increase in CatS activity was attributable to the increase in CatS mass detected in plasma.ConclusionA specific inhibitor of CatS which is cleared quickly from plasma may produce a transient decrease in plasma CatS activity which is followed by a more prolonged increase in plasma CatS mass which may have implications for the future clinical development of inhibitors of CatS.
The role of serum erythropoietin level and jak2 v617f allele burden in the diagnosis of polycythaemia vera
Authors: Ancochea Àgueda , Álvarez‐Larrán Alberto , Morales‐Indiano Cristian , García‐Pallarols Francesc , Martínez‐Avilés Luz , Angona Anna , Senín Alicia , Bellosillo Beatriz , Besses Carles 
Published: July 2014

SummaryLow serum erythropoietin (EPO) is a minor criterion of Polycythaemia Vera (PV) but its diagnostic usefulness relies on studies performed before the discovery of JAK2 V617F mutation. The objective of the present study was to evaluate the diagnostic accuracy of serum EPO and JAK2 V617F allele burden as markers of PV as well as the combination of different diagnostic criteria in 287 patients (99 with PV, 137 with Essential Thrombocythaemia and 51 with non‐clonal erythrocytosis). Low EPO showed good diagnostic accuracy as a marker for PV, with the area under the curve (AUC) of the chemiluminescent‐enhanced enzyme immunoassay (CEIA) being better than that of radioimmunoassay (RIA) (0·87 and 0·76 for CEIA and RIA, respectively). JAK2 V617F quantification displayed an excellent diagnostic accuracy, with an AUC of 0·95. A haematocrit >52% (males) or >48% (females) plus the presence of the JAK2 V617F mutation had a sensitivity and specificity of 79% and 97%, respectively. Adding low EPO or the JAK2 V617F allele burden did not improve the diagnostic accuracy for PV whereas the inclusion of both improved the sensitivity up to 83% and maintaining 96% specificity. Haematocrit and qualitative JAK2 V617F mutation allow a reliable diagnosis of PV. Incorporation of EPO and/or JAK2 V617F mutant load does not improve the diagnostic accuracy.
Revisiting TP53 Mutations and Immunohistochemistry—A Comparative Study in 157 Diffuse Gliomas
Authors: Takami Hirokazu , Yoshida Akihiko , Fukushima Shintaro , Arita Hideyuki , Matsushita Yuko , Nakamura Taishi , Ohno Makoto , Miyakita Yasuji , Shibui Soichiro , Narita Yoshitaka , Ichimura Koichi 
Published: July 2014

AbstractThe association between p53 immunohistochemistry and TP53 mutation status has been controversial. The present study aims to re‐evaluate the efficacy of p53 immunohistochemistry to predict the mutational status of TP53. A total of 157 diffuse gliomas (World Health Organization grades II–IV) were assessed by exon‐by‐exon DNA sequencing from exon 4 through 10 of TP53 using frozen tissue samples. Immunohistochemistry with a p53 antibody (DO‐7) on paired formalin‐fixed paraffin‐embedded materials was assessed for the extent and intensity of reactivity in all cases. A total of 72 mutations were detected in 66 samples. They included 60 missense mutations, five nonsense mutations, four deletions and three alterations in the splicing sites. A receiver operating characteristic curve analysis revealed that strong p53 immunoreactivity in more than 10% of cells provided the most accurate prediction of mutation. Using this cutoff value, 52 of 55 immunopositive cases harbored a mutation, whereas only 14 of 102 immunonegative cases showed mutations, sensitivity and specificity being 78.8% and 96.7%. Tumors with frameshift mutations frequently showed negative immunostaining. Staining interpretation by an independent observer yielded comparable accuracy. We thus propose p53 immunohistochemistry as a moderately sensitive and highly specific marker to predict TP53 mutation.
Mouse Models of Intracranial Aneurysm
Authors: Wang Yutang , Emeto Theophilus I. , Lee James , Marshman Laurence , Moran Corey , Seto Sai‐wang , Golledge Jonathan 
Published: July 2014

AbstractSubarachnoid hemorrhage secondary to rupture of an intracranial aneurysm is a highly lethal medical condition. Current management strategies for unruptured intracranial aneurysms involve radiological surveillance and neurosurgical or endovascular interventions. There is no pharmacological treatment available to decrease the risk of aneurysm rupture and subsequent subarachnoid hemorrhage. There is growing interest in the pathogenesis of intracranial aneurysm focused on the development of drug therapies to decrease the incidence of aneurysm rupture. The study of rodent models of intracranial aneurysms has the potential to improve our understanding of intracranial aneurysm development and progression. This review summarizes current mouse models of intact and ruptured intracranial aneurysms and discusses the relevance of these models to human intracranial aneurysms. The article also reviews the importance of these models in investigating the molecular mechanisms involved in the disease. Finally, potential pharmaceutical targets for intracranial aneurysm suggested by previous studies are discussed. Examples of potential drug targets include matrix metalloproteinases, stromal cell‐derived factor‐1, tumor necrosis factor‐α, the renin‐angiotensin system and the β‐estrogen receptor. An agreed clear, precise and reproducible definition of what constitutes an aneurysm in the models would assist in their use to better understand the pathology of intracranial aneurysm and applying findings to patients.
Increased Meningeal T and Plasma Cell Infiltration is Associated with Early Subpial Cortical Demyelination in Common Marmosets with Experimental Autoimmune Encephalomyelitis
Authors: Kramann Nadine , Neid Katharina , Menken Lena , Schlumbohm Christina , Stadelmann Christine , Fuchs Eberhard , Brück Wolfgang , Wegner Christiane 
Published: July 2014

AbstractSubpial cortical demyelination (SCD) accounts for the greatest proportion of demyelinated cortex in multiple sclerosis (MS). SCD is already found in biopsy cases with early MS and in marmosets with experimental autoimmune encephalomyelitis (EAE), but the pathogenesis of SCD is not well understood. The objective of this study was to investigate whether and, if so, which meningeal inflammatory cells were associated with early SCD in marmosets with EAE. Immunohistochemistry was performed to analyze brain samples from eight control animals and eight marmosets immunized with myelin oligodendrocyte glycoprotein. Meningeal T, B and plasma cells were quantified adjacent to SCD, normal‐appearing EAE cortex (NAC) and control marmoset cortex. SCD areas appeared mostly hypocellular with low‐grade microglial activation. In marmosets with EAE, meninges adjacent to SCD showed significantly increased T cells paralleled by elevated plasma cells, but unaltered B cell numbers compared with NAC. The elevation of meningeal T and plasma cells was a specific finding topographically associated with SCD, as the meninges overlying NAC displayed similarly low T, B and plasma cell numbers as control cortex. These findings suggest that local meningeal T and plasma cell infiltration contributes to the pathogenesis of SCD in marmosets with EAE.
Improvement of pontine perfusion with steroid therapy in a patient with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids: A case report
Authors: Togawa Jumpei , Nakaoku Yuriko , Hagiwara Mai , Murakami Gaku , Mitsueda‐Ono Takahiro , Matsui Masaru 
Published: July 2014

AbstractChronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease in the central nervous system characterized by brainstem symptoms and distinctive radiological features, and responds favorably to steroid therapy. To date, only a few case reports pertaining to this condition have been published, and thus single‐photon emission computed tomography findings of CLIPPERS have not been reported. Here, we document our experiences with an 86‐year‐old patient who we diagnosed with CLIPPERS according to her clinical presentation, radiological findings and favorable response to steroid therapy. N‐isopropyl‐p‐[123I]iodoamphetamine single‐photon emission computed tomography showed hypoperfusion in the pons, which was improved by steroid therapy. This case highlights the utility of N‐isopropyl‐p‐[123I]iodoamphetamine single‐photon emission computed tomography for assessing pontine dysfunction in CLIPPERS patients both before and after steroid therapy.
Numerical representations and intuitions of probabilities at 12 months
Authors: Téglás Ernő , Ibanez‐Lillo Alexandra , Costa Albert , Bonatti Luca L. 
Published: July 2014

AbstractRecent research shows that preverbal infants can reason about single‐case probabilities without relying on observed frequencies, adapting their predictions to relevant dynamic parameters of the situation (Téglás, Vul, Girotto, Gonzalez, Tenenbaum & Bonatti, ; Téglás, Girotto, Gonzalez & Bonatti, ). Here we show that intuitions of probabilities may derive from the ability to represent a limited number of possibilities. After watching a scene containing moving objects of two ensembles, 12‐month‐olds looked longer at an unlikely than at a likely single‐case outcome when the objects were within the parallel individuation range. However, they did not do so when the scene contained the same ratio between ensembles but a larger number of objects. At the same time, they could form rational expectations about single‐case outcomes in scenes containing the same large number of objects when they could exploit subtle physical parameters induced by the objects’ movements and their spatial configuration. Our findings demonstrate that at early stages of development the mental representations involved in probability estimations of future individual situations are powerful and sophisticated, but at the same time they depend on infants’ overall cognitive architecture, being constrained by the numerical representations spontaneously induced by the situations.
Fearful faces drive gaze‐cueing and threat bias effects in children on the lookout for danger
Authors: Dawel Amy , Palermo Romina , O'Kearney Richard , Irons Jessica , McKone Elinor 
Published: July 2014

AbstractMost developmental studies of face emotion processing show faces in isolation, in the absence of any broader context. Here we investigate two types of interactions between expression and threat contexts. First, in adults, following of another person's direction of social attention is increased when that person shows fear and the context requires vigilance for danger. We investigate whether this also occurs in children. Using a Posner‐style eye‐gaze cueing paradigm, we tested whether children would show greater gaze‐cueing from fearful than happy expressions when the task was to be vigilant for possible dangerous animals. Testing across the 8–12‐year‐old age range, we found this fear priority effect was absent in the youngest children but developed to reach adult levels in the oldest children. However, even the oldest children were unable to sustain fear‐prioritization when the onset of the target was delayed. Second, we addressed the development of ‘threat bias’ – namely faster identification of dangerous animals than safe animals – in the social context provided by expressive faces. In our non‐anxious samples (i.e. with typical‐population levels of anxiety), adults showed a threat bias regardless of the expression or looking direction of the just‐seen cue face whereas 8–12‐year‐olds only showed a threat bias when the just‐seen cue face displayed fear. Overall, the results argue that some, but not all, aspects of expression–context interactions are mature by 12 years of age.
Accelerating bleaching in vitiligo: balancing benefits versus risks
Authors: Seneschal Julien , Boniface Katia , Ezzedine Khaled , Taieb Alain 
Published: July 2014

AbstractWhile the goal of available treatment in vitiligo is to regain pigmentation, some patients affected by extensive and treatment‐resistant vitiligo, with a major social and emotional impact, may benefit from depigmentation therapy. However, results from such therapy may not always be satisfactory. So to achieve better, faster and complete bleaching, Webb et al. propose a synergistic approach that combines topical application of bleaching phenols which targets melanocytes and initiate local inflammation with immune adjuvants so as to obtain an enhanced immune response against remaining melanocytes. This strategy could be reliable, but should be evaluated cautiously in future studies, in terms of potential side effects and induction of undesired autoimmunity.
Hair type‐specific function of canonical Wnt activity in adult mouse skin
Authors: Niemann Catherin , Schneider Marlon R. 
Published: July 2014

AbstractWnt/β‐catenin signalling is a key regulator of hair follicle (HF) morphogenesis and life‐long HF regeneration. In a recently published issue of Experimental Dermatology, Lei et al. report that sustained WNT10B supply and pathway activation in regenerating mouse HF increased the width of hair bulbs, hair shafts and the dermal papilla (DP), and enlarged the CD34+ HF bulge cell compartment. Notably, WNT10B affected primarily zigzag HFs, while size and morphology of other HF types remained largely unaffected. Thus, these findings raise a number of questions regarding a HF type‐specific function of Wnt/β‐catenin and on the role of the WNT‐stimulated DP in this process.