Αρχειοθήκη ιστολογίου

Σάββατο 1 Ιουλίου 2017

Epinephrine use for anaphylaxis: Too seldom, too late

During the past 20 years, food allergy has dramatically increased, with a concomitant increased risk for anaphylaxis.1 Anaphylaxis is "a serious allergic reaction that is rapid in onset and may cause death."2 Foods are one of the common causes of anaphylaxis3 over medications and insect stings, and food allergy has become a worldwide concern. Anaphylaxis is inadequately treated most of the time4 because of inconsistent signs and symptoms; anaphylaxis can manifest differently in the same person, even when triggered by the same allergen.

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Effects of allergen sensitization on response to therapy in children with eosinophilic esophagitis

In children with eosinophilic esophagitis (EoE) foods are the most common disease triggers, but environmental allergens are also suspected culprits.

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Serum cytokine profile in pediatric Sweet’s syndrome: a case report

Sweet's syndrome is characterized by fever, leukocytosis, and tender erythematous papules or nodules. It is a rare condition, particularly in the pediatric population, and has recently been proposed to be an a...

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Table of Contents

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Publication date: July–August 2017
Source:American Journal of Otolaryngology, Volume 38, Issue 4





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Guidelines for Contributing Authors

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Publication date: July–August 2017
Source:American Journal of Otolaryngology, Volume 38, Issue 4





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Editorial Board

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Publication date: July–August 2017
Source:American Journal of Otolaryngology, Volume 38, Issue 4





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Trends in prescribing behavior of systemic agents used in the treatment of acne among dermatologists and nondermatologists: A retrospective analysis, 2004-2013

Despite recommendations to limit the use of oral antibiotics and increasing support for hormonal agents in the treatment of acne, it is unclear whether there have been any significant changes in practice patterns.

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Anatomic mapping and clinicopathologic analysis of benign acral melanocytic neoplasms: A comparison between adults and children

The clinicopathologic features of benign acral melanocytic neoplasms (BAMNs) remain poorly understood.

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CD8+ mycosis fungoides: A low-grade lymphoproliferative disorder

The prognosis of the CD8+ subtype of mycosis fungoides (MF) is controversial. Although most authors believe that determining the presence of this cell surface antigen has no prognostic value, others have observed a more indolent course for CD8+ MF compared with CD4+ MF.

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Discrepancy between the clinical and histopathologic diagnosis of soft tissue vascular malformations

Soft tissue vascular malformations are generally diagnosed clinically, according to the International Society for the Study of Vascular Anomalies (ISSVA) classification. Diagnostic histopathologic examination is rarely performed.

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Multiple and repeated sampling increases the sensitivity of direct immunofluorescence testing for the diagnosis of mucous membrane pemphigoid

Mucous membrane pemphigoid (MMP) is an autoimmune disease characterized by the predominant blistering of mucosal surfaces and the linear deposition of complement, IgG, or IgA along the basement membrane detected by direct immunofluorescence (DIF) test.

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Urolithiasis secondary to primary obstructive megaureter in an adult: a case report

Primary obstructive megaureter is relatively uncommon in adults. This condition usually regresses spontaneously or is treated during infancy. It can remain asymptomatic for decades until adulthood when symptom...

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Sjogren's syndrome: New paradigms and areas for future research

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Publication date: Available online 30 June 2017
Source:Clinical Immunology
Author(s): Julian L. Ambrus




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Patient preferences for the attributes of a non-invasive treatment for superficial Basal cell carcinoma: a discrete choice experiment

Abstract

To examine which attributes of a non-invasive treatment for superficial BCC (sBCC) are valued by patients, a discrete choice experiment (DCE) was performed alongside a clinical trial in which methylaminolevulinate photodynamic therapy (MAL-PDT), 5-fluorouracil and imiquimod were compared.1

Treatment options were described by the following attributes: effectiveness, cosmetic result, treatment process and side-effects. Effectiveness was defined as the probability that complete tumour clearance is achieved 12 months after treatment with levels of 75%,80%,85% and 90%.2-4

This article is protected by copyright. All rights reserved.



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Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas

Abstract

Breslow thickness is considered to be the most important prognostic tumor feature in melanoma patients and is associated with age, sex, and phenotypic risk factors for melanoma such as number of nevi. However, its association with inherited genetic variants in recently identified melanoma risk loci is largely unknown.

In a Western Australian Melanoma Health Study (WAMHS) study, published in the British Journal of Dermatology, IRF4 rs12203592, OCA2 rs1800401 and TP53 rs1042522 were significantly associated (P < 0.05) with Breslow thickness; however, these associations did not pass false discovery.

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Lack of Response to Intravenous Sodium Thiosulfate in Three Cases of Extensive Connective Tissue Disease-Associated Calcinosis Cutis

Abstract

Dystrophic calcinosis cutis is a debilitating condition of calcium salt deposition in the skin often occurring in association with connective tissue disease (CTD). Available treatments for calcinosis cutis are unsatisfactory, but given the recent use of topical and intralesional sodium thiosulfate (STS) to treat calcifying disorders, we sought to describe the use of intravenous (IV) STS for CTD-associated dystrophic calcinosis cutis. We report three patients with longstanding and extensive CTD-associated calcinosis cutis treated with IV STS after having failed multiple prior therapies. All three patients experienced fatigue and nausea with STS infusions, and none of the patients had notable clinical or symptomatic improvement of calcinosis. It remains to be seen whether the administration of IV STS earlier in the onset of calcinosis might be of benefit given that these patients all had longstanding and refractory CTD-associated calcinosis. Given the small number of patients in this series, further investigation into the use of IV STS in calcinosis cutis is warranted.

This article is protected by copyright. All rights reserved.



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Invasive dermatophyte infection with trichophyton interdigitale is associated with prurigo induced pseudoperforation and a STAT3 mutation

Abstract

Invasive dermatophyte infection, with extention beyond the dermis, in immunocompetent hosts is exceptionally rare. Dermatophytes are keratinophilic and are usually confined to the stratum corneum, hair and nails. Susceptibility to dermatophyte infections is incompletely understood but inherited mutations in key signaling pathways of the innate immune system have been identified.1 We report the first case of an invasive dermatophyte infection associated with abrupt onset of a prurigo induced pseudoperforation and a loss of function mutation in Signal transducer and activator of transcription 3 (STAT 3).

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Experiences of rosacea and its treatment: An interpretative phenomenological analysis

Abstract

Background

Whilst rosacea is a chronic skin condition, the condition can often have a large psychosocial impact on the individual. There is therefore a need to understand the experience of living with rosacea from the patient perspective.

Objectives

To examine the experience of living with rosacea and the experience of seeking and receiving treatment.

Methods

Nine participants took part in semi-structured interviews, which were analysed using interpretative phenomenological analysis.

Results

Three superordinate themes were identified within the data; self-consciousness, which focused on the fear of others' assigning blame to participants for having caused symptoms; avoidance, concealment, and hiding emotions, referring to the coping strategies participants employed in response to rosacea; and inconsistencies in GP treatment and guidance, which focused on the need for medical professionals to assess the psychosocial well-being of patients with rosacea.

Conclusions

Rosacea can have a negative impact on the daily life of people with the condition, contributing to lowered self-esteem, embarrassment, and feelings of shame. Engaging in emotion-focused and behavioural/avoidant-focused coping strategies increased participant's confidence and reduced their avoidance of social situations. However, such strategies might still serve to maintain underlying unhelpful cognitive processes. Consequently, it is important for medical professionals to assess for the presence of cognitive factors that might contribute to maintaining distress in patients with rosacea, and where unhelpful thoughts or beliefs are reported, patients may need to be referred for psychological support.

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Hidradenitis Suppurativa and electrocardiographic changes – a cross-sectional population study

Abstract

Background

Hidradenitis Suppurativa (HS) is a chronic, inflammatory skin disease, recently associated with metabolic syndrome, subclinical atherosclerosis and increased risk of cardiovascular disease.

Objectives

The aim of the study was to investigate the hitherto unknown electrocardiographic changes associated with HS, which recently have been associated with significant cardiovascular burden.

Methods

Data were derived from the cross-sectional population study, The Danish General Population Study (GESUS). HS diagnosis was based on a validated self-reported questionnaire and 404 individuals met the HS diagnosis criteria and 19,001 controls without HS were identified in the population. Severity of HS was staged according to a modified Hurley score. The electrocardiographic parameters, Heart Rate (HR), PR-interval, QRS-duration, JTc-interval and QTc-interval, were obtained from 12-lead resting electrocardiograms. We investigated the difference in means by unpaired t-test or the analysis of variance (ANOVA) test.

Results

Heart rate was significantly higher (mean difference: 2.3 bpm [1.2:3.4] p<0.01) when adjusting for age and gender but when multivariate adjusting, there was no significant difference (0.3 bpm [-0.7:1.4] p=0.52). Severe HS was significantly associated with increased heart rate across all models (2.9 bpm [0.7:5.1] p=0.01). Mean QRS-duration was significantly shorter in the mild HS group, but not in the moderate- and severe HS groups

Conclusion

Mean resting heart rate in severe HS was significantly higher compared to controls. Given that resting heart rate is associated with increased risk of all-cause and cardiovascular mortality, and that HS patients have increased risk of cardiovascular events, this finding is potentially important, easily testable and intervenable.

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A hyaluronic acid-based microneedle patch to treat psoriatic plaques: A pilot open trial

Abstract

Psoriasis, a common, chronic, relapsing, inflammatory skin disease characterised by multiple erythematous papules and plaques with silvery scales, affects 0.5–3% of the world's population. Recently, great advances have been made in the treatment of psoriasis, including the introduction of targeted biological agents.1 However, topical treatment remains important; most patients have mild disease affecting less than 2% of the body surface area.2

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AGREE II assessments of recent acne treatment guidelines: how well do they reveal trustworthiness as defined by the Institute of Medicine (IOM) criteria?

Abstract

Background

Up-to-date, trustworthy guidelines are a widely relied-upon means of promoting excellent patient care.

Objectives

To determine the quality of recently published acne treatment guidelines by utilizing the Appraisal of Guidelines for Research and Evaluation (AGREE) II Reporting Checklist, the US Institute of Medicine's (IOM) criteria of trustworthiness, Lenzer et al's red flags and CheckUp.

Methods

Systematic searches were conducted in bibliographic databases, guideline depositories and using Google to identify acne treatment guidelines published since 2013. Six assessors independently scored each guideline using the AGREE II Reporting Checklist. Guidelines were concomitantly assessed for trustworthiness using the IOM criteria and for Lenzer et al's red flags indicative of potential bias. Updates were screened using CheckUp.

Results

Eight guidelines were identified, two of which were updates. Lowest scoring AGREE II domains across all guidelines were rigour (6/8 poor, one fair, one average) and applicability (4/8 poor, one fair, three average). Two out of the three highest scoring guidelines were developed using AGREE II. No guideline fully met each IOM criterion and all raised at least one red flag indicative of potential bias. One updated guideline did not address seven of 16 items on CheckUp and the other did not address four. Patient involvement in guideline development was minimal.

Conclusions

Use of the AGREE II Instrument during guideline development did not have as great an effect on guideline quality as might be expected. There is considerable room for improvement in acne treatment guidelines in order to satisfy the IOM trustworthiness criteria and avoid bias.

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European Heart SCORE may underestimates cardiovascular risk after assessing cardiovascular disease with carotid ultrasound in Hidradenitis Suppurativa

Abstract

Hidradenitis suppurativa (HS) is chronic recurrent inflammatory disease affecting intertriginous areas, especially the axilla and the groin1. It is characterized by painful, deep-seated, inflamed lesions, including nodules, abscesses, and sinus tracts2. A recent meta-analysis found an association between HS and traditional cardiovascular (CV) risk factors and metabolic syndrome3.

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Peak inspiratory flow as predictor for tracheotomy

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Publication date: Available online 30 June 2017
Source:European Annals of Otorhinolaryngology, Head and Neck Diseases
Author(s): M. Lesnik, J. J. Sanchez-Guerrero, O. De Crouy Chanel, C. Hervé, J. Guerlain, S. Périé
ObjectivesQuantitative evaluation of upper airway obstruction cannot be commonly performed under acute dyspnea, especially in head and neck cancer (HNC); the decision whether or not to perform airway control surgery may be difficult to reach. Peak inspiratory flow (PIF) has been previously demonstrated to be a useful tool to decide on decannulation after HNC surgery. The aim of the present study was to assess the role of PIF as a standardized non-invasive tool in quantifying severe inspiratory dyspnea requiring emergency tracheostomy.Materials and methodsA single-center prospective observational pilot study analyzed PIF measurements in 22 patients exhibiting acute dyspnea due to upper airway obstruction.Main outcome measuresThe decision whether or not to perform tracheotomy was taken prior to PIF measurement. PIF was measured with a hand-held PIF meter (In-Check method), and laryngeal fiberoscopy was then performed. Obstruction severity was defined by PIF values.ResultsPIF could be measured prior to tracheotomy (imminent in 21 cases, postponed in 1) in all cases. PIF values below 53.1 L/min (i.e., 18.3% of theoretic value) correlated with necessity for emergency tracheotomy. This threshold is concordant with that previously found for the feasibility of decannulation (60L/min).ConclusionsPIF is a non-invasive quantitative parameter assessing severity of upper airway obstruction, that may be helpful in decision-making for tracheostomy. Testing is simple, quick and reproducible.



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A pigmented lesion of the nasopharynx

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Publication date: Available online 30 June 2017
Source:European Annals of Otorhinolaryngology, Head and Neck Diseases
Author(s): J.-W. Kim, S.-D. Kim, K.-S. Cho




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L’infection à Zika virus : mise au point

Publication date: Available online 30 June 2017
Source:Annales de Dermatologie et de Vénéréologie
Author(s): A. Guillier, E. Amazan, A. Aoun, E. Baubion, C. Derancourt
Le virus Zika (ZIKV), initialement identifié en 1947, est un Flavivirus ré-émergent, principalement transmis par les piqûres de moustiques du genre Aedes. Jusqu'aux récentes épidémies dans les îles du Pacifique et en Amérique centrale et du sud, il était réputé à l'origine d'une maladie bénigne, asymptomatique dans la majorité des cas, ou avec des symptômes modérés non spécifiques (fièvre, éruption, conjonctivite, arthralgies…). Au cours de l'épidémie actuelle, d'une ampleur inédite, de nouveaux modes de transmission (transfusionnel, périnatal, sexuel) et des complications neurologiques sévères telles que des malformations congénitales chez les fœtus de mères infectées et des syndromes de Guillain-Barré chez l'adulte ont été mis en évidence. Cette situation, dans un contexte de potentielle pandémie mondiale à venir, a amené l'Organisation mondiale de la santé (OMS) à déclarer l'infection à ZIKV urgence de santé publique de portée internationale en février 2016.Zika Virus (ZIKV), originally identified in 1947, is a re-emerging Flavivirus transmitted mainly through bites by Aedes mosquitos. Until the recent outbreaks in the Pacific islands and Central and South America, it was known to cause benign disease, in most cases asymptomatic or with mild and nonspecific symptoms (fever, rash, conjunctivitis, arthralgia, etc.). The unprecedented current epidemic has highlighted new modes of transmission (through blood, perinatally and sexually) as well as serious neurological complications such as congenital defects in the fetuses of infected mothers and Guillain-Barre syndrome in adults. This situation, coupled with the threat of worldwide spread, prompted the WHO to declare the ZIKV a public health emergency of international concern in February 2016.



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When cancer patients suddenly have a positive pregnancy test

We present the case of non-small cell lung cancer (NSCLC) in a 48-year-old woman with an active history of smoking. The patient initially presented to her general practitioner with a progressive swelling on the neck. Further investigations diagnosed a metastatic lung tumour, and palliative chemotherapy was started. After 5 months of treatment, by newly reported amenorrhoea, cautiously before a restaging CT scan of the abdomen, a pregnancy test was performed and was positive. Both the gynaecological examination and the hormonal panel yielded no signs of pregnancy. Immunohistochemically, staining of the tumour was strongly positive for β-subunit of human chorionic gonadotropin (β-hCG) suggesting that the tumour was responsible for high β-hCG levels.

Paraneoplastic β-hCG secretion from adenocarcinomas is rare. In the literature, only a few such cases have been reported. Previous studies suggested that the ability to secrete β-hCG in tumours may correlate to some extent to chemoresistance and thus, to a worse prognosis.



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Review of phase III trial data on IL-23 Inhibitors Tildrakizumab and Guselkumab for psoriasis

Abstract

Background

The development of monoclonal antibodies targeting IL-12 and IL-23 has enhanced the therapeutic options available for psoriasis patients. Recent research suggests that IL-23 alone plays a role in the pathogenesis of psoriasis.

Objective

The objective was to review the phase III clinical trial data for the anti-IL-23 agents in order to evaluate the safety and efficacy profile of each agent.

Methods

We reviewed the results of the phase III clinical trials for the anti-IL-23 agents tildrakizumab and guselkumab. The results of phase III trials on risankizumab have not yet been reported.

Results

By week 12, the proportion of patients reaching Psoriasis Area and Severity Index (PASI 75) was greater than 60% among the most efficacious dose of each agent. The percentage of patients achieving PASI 90 at week 16 was the primary endpoint for the phase III trials for guselkumab, which was above 70%. The safety profiles of the agents were comparable, with the most commonly reported adverse events of nasopharyngitis and upper respiratory tract infections.

Conclusion

The anti-IL-23 agents demonstrated a rapid clinical improvement that is similar or superior to the improvement seen with currently marketed IL-17 inhibitors with a favorable short-term safety profile. The results of the phase III trials support the notion that IL-23 is a potential target in psoriasis treatment.

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Theophylline increases saliva sonic hedgehog and improves taste dysfunction

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Publication date: October 2017
Source:Archives of Oral Biology, Volume 82
Author(s): Robert I. Henkin, Alexandra B. Knöppel, Mona Abdelmeguid, William A. Stateman, Suzanna Hosein
ObjectiveTo determine changes in saliva sonic hedgehog (Shh) and in taste dysfunction before and after oral theophylline treatment.DesignShh was measured in parotid saliva of both normal subjects and patients with taste dysfunction of multiple etiologies by use of a sensitive spectrophotometric ELISA assay. Taste dysfunction was defined clinically by both subjective inhibition of taste function (including acuity loss) and impaired gustometry.ResultsTheophylline treatment increased patient saliva Shh and improved taste dysfunction both subjectively and by gustometry.ConclusionsBy use of these systematic clinical measurements theophylline can be demonstrated to increase saliva Shh and improve taste dysfunction. These results are consistent with saliva Shh acting as a taste bud growth factor which stimulates stem cells of taste buds to initiate development and perpetuation of taste bud receptors. Measurements of saliva Shh provide an important marker for the presence of taste dysfunction and in the improvement by theophylline treatment.



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A lung sound analysis in a child thought to have cough variant asthma: A case report

Publication date: Available online 30 June 2017
Source:Allergology International
Author(s): Eri Imai, Mayumi Enseki, Mariko Nukaga, Hideyuki Tabata, Kota Hirai, Masahiko Kato, Hiroyuki Mochizuki




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Relevance of chromosomal band 11q13 in oral carcinogenesis: An update of current knowledge

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Publication date: September 2017
Source:Oral Oncology, Volume 72
Author(s): Pablo Ramos-García, Isabel Ruiz-Ávila, José Antonio Gil-Montoya, Ángela Ayén, Lucía González-Ruiz, Francisco José Navarro-Triviño, Miguel Ángel González-Moles
An important event in oral carcinogenesis is the amplification of chromosomal band 11q13, in which numerous oncogenes and some tumor-suppressor genes are localized and frequently co-amplified during the malignant transformation of oral epithelium. The objectives of this study were to review published data on the involvement of 11q13 amplification in oral cancer, to provide an update on novel concepts and terminology related to gene amplification, and to explore the composition of the 11q13 amplicon in OSCC, including its most relevant amplicon cores and potential drivers. We report on the critical oncogenes and tumor-suppressor genes in 11q13 that may play a major role in oral cancer, focusing on their functions, on the characteristics acquired by their amplification, and on their clinicopathological implications. Finally, we discuss the possible usefulness of the 11q13 region as a therapeutic target in oral cancer.



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Combination of docetaxel, trastuzumab and pertuzumab or treatment with trastuzumab-emtansine for metastatic salivary duct carcinoma

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Publication date: Available online 30 June 2017
Source:Oral Oncology
Author(s): Wim van Boxtel, Eline Boon, Willem L.J. Weijs, Frank J.A. van den Hoogen, Uta E. Flucke, Carla M.L. van Herpen




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Safety aspects of preoperative high-dose glucocorticoid in primary total knee replacement

Abstract
Background: Preoperative single high-dose glucocorticoid may have early outcome benefits in total hip arthroplasty (THA) and knee arthroplasty (TKA), but long-term safety aspects have not been evaluated.Methods: From October 2013, the departments reporting to the prospective Lundbeck Foundation Database for Fast-track Hip and Knee Replacement introduced preoperative methylprednisolone (MP) 125 mg as part of a multimodal analgesic protocol in TKA. We analysed the risk of length of hospital stay (LOS) >4 days, 30 and 90 day readmissions in patients with MP vs patients having TKA before the use of MP and adjusted for comorbidity and place of surgery. An unadjusted comparison was specifically done to evaluate deep prosthetic infections.Results: Of a total of 3927 TKA procedures, 1442 received MP. Median LOS was 2 days in both groups, but the fraction with LOS >4 days was 6.0% vs 11.5% (P<0.001) in patients with MP vs those without, and with a reduced risk of LOS >4 days in adjusted analysis [odds ratio (OR) 0.51; confidence interval (CI) 0.39–0.68; P<0.001]. Readmission rates were 5.6% (CI 4.5–6.9) vs 4.4% (P=0.095) and 7.8% vs 7.3% (P=0.53) at 30 and 90 days with and without MP, respectively.Adjusted analysis did not identify MP to be associated with 30 day (OR 1.18; CI 0.89–1.56; P=0.25) or 90 day (OR 1.12; CI 0.86–1.46; P=0.39) readmissions. The incidence of deep infections requiring surgical intervention was 0.8% vs 0.7% with MP vs without, respectively (P=0.78).Conclusions: In this detailed prospective cohort study, preoperative high-dose glucocorticoid administration was not associated with LOS >4 days, readmissions or infectious complications in TKA patients without contraindications.Clinical trial registration: NCT01515670.

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Endoscopic versus microscopic type 1 tympanoplasty in the same patients: a prospective randomized controlled trial

Abstract

The aim of this study was to compare the audiologic outcomes of the patients who underwent endoscopy on one ear and microscopic tympanoplasty on the other, and to investigate the operative time, graft success, postoperative pain and health status. This prospective randomized controlled study was carried out in Ege University ENT Department between February 2015 and September 2016. The patients who had bilateral chronic otitis media, normal middle ear mucosa and a hearing loss difference of 10 dB or less between the two ears randomly underwent microscopic tympanoplasty in one ear and endoscopic tympanoplasty in the contralateral ear, with 6-month intervals. 13 patients were included in the study with a mean age of 36.17 ± 3.61 years (range 17–53 years, 7 female, 6 male). The improvement in air–bone gap for groups 1 (endoscopic) and 2 (microscopic) was 9.48 ± 5.23 and 9.89 ± 2.79 dB, respectively. The duration of the surgery in group 1 was significantly lower than that in group 2 (p < 0.01). VAS scores were 2.15 ± 0.37 and 3.76 ± 1.64 cm for groups 1 and 2, respectively (p = 0.006). The endoscopic approach for type 1 tympanoplasty offers shorter surgery time, better health status and lower postoperative pain than microscopic surgery. In addition, endoscopic surgery offers comparable improvement in air–bone gap and similar graft success. The endoscopic approach has comparable audiological and morphological graft outcomes with the microscopic one. The endoscopic approach yielded better health and pain status for the same patients.

Level of evidence This is an individual randomized controlled trial. The level of evidence is 1b.



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Polymorphisms in DENND1B gene are associated with asthma and atopy phenotypes in Brazilian children

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Publication date: October 2017
Source:Molecular Immunology, Volume 90
Author(s): Bianca S.D. Fiuza, Milca de J. Silva, Neuza M. Alcântara-Neves, Maurício L. Barreto, Ryan dos S. Costa, Camila A. Figueiredo
Asthma is a heterogeneous disease associated with a complex basis involving environmental factors and individual variabilities. The DENN Domain Containing 1B (DENND1B) gene has an important role on T cell receptor (TCR) down-regulation on Th2 cells and studies have shown that mutations or loss of this factor can be associated with increased Th2 responses and asthma. The aim of this work is to evaluate the association of polymorphisms in the DENND1B with asthma and allergy markers phenotypes in Brazilian children. Genotyping was performed using a commercial panel from Illumina (2.5 Human Omni bead chip) in 1309 participants of SCAALA (Social Change, Asthma, Allergy in Latin American) program. Logistic regressions for asthma and atopy markers were performed using PLINK software 1.9. The analyzes were adjusted for sex, age, helminth infections and ancestry markers. The DENND1B gene was associated with different phenotypes such as severe asthma and atopic markers (specific IgE production, skin prick test and IL-13 production). Among the 166 SNPs analyzed, 72 were associated with asthma and/or allergy markers. In conclusion, polymorphisms in the DENND1B are significantly associated with development of asthma and atopy and these polymorphisms can influence DENND1B expression and consequently, asthma.



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Movilidad sostenible: alternativa viable para las ciudades cubanas

Morris, EJ; Ortegon Sanchez, A; Warren, JP; (2015) Movilidad sostenible: alternativa viable para las ciudades cubanas. Temas , 83 pp. 36-43.

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Enhancing the contribution and role of practitioner knowledge in the Intergovernmental Panel on Climate Change (IPCC) Working Group (WG) II process: Insights from UK workshops

Howarth, C; Viner, D; Dessai, S; Rapley, C; Jones, A; (2017) Enhancing the contribution and role of practitioner knowledge in the Intergovernmental Panel on Climate Change (IPCC) Working Group (WG) II process: Insights from UK workshops. Climate Services , 5 pp. 3-10. 10.1016/j.cliser.2017.04.003 . (In press). Green open access

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Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation

Castelletti, S; Vischer, AS; Syrris, P; Crotti, L; Spazzolini, C; Ghidoni, A; Parati, G; Castelletti, S; Vischer, AS; Syrris, P; Crotti, L; Spazzolini, C; Ghidoni, A; Parati, G; Jenkins, S; Kotta, M-C; McKenna, WJ; Schwartz, PJ; Pantazis, A; - view fewer (2017) Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. International Journal of Cardiology 10.1016/j.ijcard.2017.05.018 . (In press).

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A new start? Negotiations of age and chrononormativity by older apprentices in England

Leonard, P; Fuller, A; Unwin, L; (2017) A new start? Negotiations of age and chrononormativity by older apprentices in England. Ageing and Society 10.1017/S0144686X17000204 . (In press). Green open access

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Hearing Characteristics of Stroke Patients: Prevalence and Characteristics of Hearing Impairment and Auditory Processing Disorders in Stroke Patients

Koohi, N; Vickers, DA; Lakshmanan, R; Chandrashekar, H; Werring, DJ; Warren, JD; Bamiou, D-E; (2017) Hearing Characteristics of Stroke Patients: Prevalence and Characteristics of Hearing Impairment and Auditory Processing Disorders in Stroke Patients. Journal of the American Academy of Audiology , 28 (6) pp. 491-505. 10.3766/jaaa.15139 .

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A novel prion protein variant in a patient with semantic dementia

Kenny, J; Woollacott, I; Koriath, C; Hosszu, L; Adamson, G; Rudge, P; Rossor, MN; Kenny, J; Woollacott, I; Koriath, C; Hosszu, L; Adamson, G; Rudge, P; Rossor, MN; Collinge, J; Rohrer, JD; Mead, S; - view fewer (2017) A novel prion protein variant in a patient with semantic dementia. [Letter]. Journal of Neurology Neurosurgery and Psychiatry 10.1136/jnnp-2017-315577 . (In press). Green open access

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Grub Street culture: the newspapers of Nathaniel Mist, 1716-1737

Symonds, MT; (2007) Grub Street culture: the newspapers of Nathaniel Mist, 1716-1737. Doctoral thesis, UCL (University College London). Green open access

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Genre and gender disturbance: Male perceptions of the self in Austrian novellen of the 1920s

Willmore, EJ; (2007) Genre and gender disturbance: Male perceptions of the self in Austrian novellen of the 1920s. Doctoral thesis, UCL (University College London). Green open access

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Genetic studies into the origin and transcriptional regulation of midbrain dopaminergic neurons in mice

Yan, HMC; (2006) Genetic studies into the origin and transcriptional regulation of midbrain dopaminergic neurons in mice. Doctoral thesis, UCL (University College London). Green open access

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Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study

Way, MJ; Ali, MA; McQuillin, A; Morgan, MY; (2017) Genetic variants in ALDH1B1 and alcohol dependence risk in a British and Irish population: A bioinformatic and genetic study. PLoS One , 12 (6) , Article e0177009. 10.1371/journal.pone.0177009 . Green open access

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Membranous nephropathy: a retrospective observational study of membranous nephropathy in north east and central London

Gupta, S; Connolly, J; Pepper, RJ; Walsh, SB; Yaqoob, MM; Kleta, R; Ashman, N; (2017) Membranous nephropathy: a retrospective observational study of membranous nephropathy in north east and central London. BMC Nephrology , 18 , Article 201. 10.1186/s12882-017-0615-5 . Green open access

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Genetic and functional studies of lipoprotein-associated phospholipase A2 and secretory phospholipase A2 variants: Their potential role in atherosclerosis

Wootton, PTE; (2006) Genetic and functional studies of lipoprotein-associated phospholipase A2 and secretory phospholipase A2 variants: Their potential role in atherosclerosis. Doctoral thesis, UCL (University College London). Green open access

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Positioning In Macular hole Surgery (PIMS): statistical analysis plan for a randomised controlled trial

Bell, L; Hooper, R; Bunce, C; Pasu, S; Bainbridge, J; (2017) Positioning In Macular hole Surgery (PIMS): statistical analysis plan for a randomised controlled trial. Trials , 18 , Article 274. 10.1186/s13063-017-2020-6 . Green open access

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Functional neuroanatomy of speech signal decoding in primary progressive aphasias.

Hardy, CJD; Agustus, JL; Marshall, CR; Clark, CN; Russell, LL; Brotherhood, EV; Bond, RL; Hardy, CJD; Agustus, JL; Marshall, CR; Clark, CN; Russell, LL; Brotherhood, EV; Bond, RL; Fiford, CM; Ondobaka, S; Thomas, DL; Crutch, SJ; Rohrer, JD; Warren, JD; - view fewer (2017) Functional neuroanatomy of speech signal decoding in primary progressive aphasias. Neurobiology of Aging , 56 pp. 190-201. 10.1016/j.neurobiolaging.2017.04.026 . Green open access

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Genetic and functional analysis of tumourigenesis in hereditary leiomyomatosis and renal cell cancer and hereditary paragangliomatosis syndromes

Pollard, PJ; (2006) Genetic and functional analysis of tumourigenesis in hereditary leiomyomatosis and renal cell cancer and hereditary paragangliomatosis syndromes. Doctoral thesis, UCL (University College London). Green open access

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Functional neuroanatomy of speech signal decoding in primary progressive aphasias

Hardy, C; Marshall, C; Clark, C; Russell, L; Brotherhood, E; Thomas, D; Crutch, S; Hardy, C; Marshall, C; Clark, C; Russell, L; Brotherhood, E; Thomas, D; Crutch, S; Rohrer, J; Agustus, J; Warren, J; - view fewer (2016) Functional neuroanatomy of speech signal decoding in primary progressive aphasias. Presented at: 10th International Conference on Frontotemporal Dementias, Munich, GERMANY.

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How well integrated is the ophthalmic care for children and young people living with diabetes in England?

Ibanez-Bruron, M; Solebo, AL; Cumberland, PM; Rahi, JS; (2017) How well integrated is the ophthalmic care for children and young people living with diabetes in England? Presented at: UNSPECIFIED.

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Influence of combined carbonation and chloride ingress regimes on rate of ingress and redistribution of chlorides in concretes

Wang, Y; Nanukuttan, S; Bai, Y; Basheer, PAM; (2017) Influence of combined carbonation and chloride ingress regimes on rate of ingress and redistribution of chlorides in concretes. Construction and Building Materials , 140 pp. 173-183. 10.1016/j.conbuildmat.2017.02.121 . Green open access

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Methods of ascertainment of children and young people living with diabetes mellitus: a mapping exercise of National Health Service diabetic eye screening programmes

Ibanez-Bruron, MC; Solebo, AL; Cumberland, PM; Rahi, JS; (2016) Methods of ascertainment of children and young people living with diabetes mellitus: a mapping exercise of National Health Service diabetic eye screening programmes. Presented at: National Conference on Public Health Science - Dedicated to New Research in UK Public Health, Glasgow, Scotland.

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Generation of single chain Fv protein a fusion molecules for melanoma therapy

Sharma, V; (2006) Generation of single chain Fv protein a fusion molecules for melanoma therapy. Doctoral thesis, UCL (University College London). Green open access

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