Source:Trends in Cell Biology, Volume 27, Issue 8
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We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c.439C>T (p.R147C) in conjunction with a single nonsense mutation in the FLG gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi–Hunermann–Happle syndrome, illustrate the possibility of co-occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis.
Atopic dermatitis (AD) affects up to 20% of children. Although the majority of patients are adequately controlled using emollients, topical corticosteroids, topical calcineurin inhibitors, or phototherapy, children with moderate to severe AD may require systemic treatment for control. The objective of the current study was to evaluate the efficacy and safety of methotrexate in children with severe AD attending a tertiary referral center.
A retrospective chart review was undertaken of all children who received methotrexate for severe AD at our tertiary referral center from November 2010 to August 2015.
Forty-seven children were started on methotrexate for AD during this period. The mean Investigator Global Assessment (IGA) at the 3- to 5-month follow-up improved from 4.25 to 2.8, with further improvement to 1.9 in the patients that continued therapy beyond 10 months. Changes in the Children's Dermatology Life Quality Index (CDLQI) mirrored changes in the IGA, with improvement in the mean CDLQI from 14.4 at the start of the treatment to 7.5 at the 3- to 5-month follow-up. Further improvement in the CDLQI to 6.6 in patients who continued methotrexate beyond 10 months confirmed continued improvement in disease control beyond medium-term therapy. The treatment was well tolerated.
Methotrexate appears to be an effective, safe treatment for severe pediatric AD. Its therapeutic effects continue beyond the medium-term treatment period, as reflected by further improvement in IGA and CDLQI scores in patients who continued methotrexate therapy beyond 10 months.
Publication date: Available online 20 July 2017
Source:Allergologia et Immunopathologia
Author(s): G. Azizi, H. Abolhassani, F. Kiaee, N. Tavakolinia, H. Rafiemanesh, R. Yazdani, SA. Mahdaviani, S. Mohammadikhajehdehi, M. Tavakol, V. Ziaee, B. Negahdari, J. Mohammadi, A. Mirshafiey, A. Aghamohammadi
BackgroundCommon variable immunodeficiency (CVID) is one of the most prevalent symptomatic primary immunodeficiencies (PIDs), which manifests a wide clinical variability such as autoimmunity, as well as T cell and B cell abnormalities.MethodsA total of 72 patients with CVID were enrolled in this study. Patients were evaluated for clinical manifestations and classified according to the presence or absence of autoimmune disease. We measured regulatory T cells (Tregs) and B-cell subsets using flow cytometry, as well as specific antibody response (SAR) to pneumococcal vaccine, autoantibodies and anti-IgA in patients.ResultsTwenty-nine patients (40.3%) have shown at least one autoimmune manifestation. Autoimmune cytopenias and autoimmune gastrointestinal diseases were the most common. A significant association was detected between autoimmunity and presence of hepatomegaly and splenomegaly. Among CVID patients, 38.5% and 79.3% presented a defect in Tregs and switched memory B-cells, respectively, whereas 69.0% presented CD21low B cell expansion. Among patients with a defect in Treg, switched memory and CD21low B cell, the frequency of autoimmunity was 80.0%, 52.2% and 55.0%, respectively. A negative correlation was observed between the frequency of Tregs and CD21low B cell population. 82.2% of patients had a defective SAR which was associated with the lack of autoantibodies.ConclusionsAutoimmunity may be the first clinical manifestation of CVID, thus routine screening of immunoglobulins is suggested for patients with autoimmunity. Lack of SAR in CVID is associated with the lack of specific autoantibodies in patients with autoimmunity. It is suggested that physicians use alternative diagnostic procedures.
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Publication date: Available online 21 July 2017
Source:Bioactive Carbohydrates and Dietary Fibre
Author(s): Qingbin Guo, H. Douglas Goff, Steve W. Cui
A galacto-oligosaccharide product (VITAGOS™) was prepared by glycoside hydrolases (β-galactosidase from Aspergillus oryzae and Kluyveromyces lactis) using lactose as substrate. Monosaccharide composition analysis indicated that VITAGOS™ contained 40.3% (w/w, dry basis) glucose and 51.1% (w/w, dry basis) galactose. According to high performance size exclusion chromatography (HPSEC) analysis, VITAGOS™ was a sugar mixture with degree of polymerisation (DP) ranging from 1 to 7, with DP2 and DP3 as the dominant fractions (32% and 33%, w/w). In addition, more than three fractions were observed for each DP pool indicated by the oligosaccharides profiles obtained from high performance anion exchange chromatography (HPAEC) analysis. Six sub-fractions (F1-F6, corresponding to DP1 to DP6 rich fraction, respectively) were then collected using biogel P-2 column, followed by structural characterisation through methylation analysis combined with 1D & 2D NMR spectroscopy. The detailed molecular structures of VITAGOS™ with DP up to 4 are provided.
The tendency to develop multiple drug hypersensitivity (MDH), defined as a hypersensitivity to two or more structurally unrelated drugs, occurs in up to 10% of people who have a severe and proven immune-mediated drug hypersensitivity reaction (DHR). There are two subtypes of MDH: in the first type, MDH develops if different drugs are administered simultaneously; in the second, MDH develops if different drugs are administered sequentially, sometimes years apart. MDH presents clinically as immediate and/or non-immediate reactions. The main drugs responsible for MDH are antibiotics, non-steroidal anti-inflammatory drugs (NSAIDs), antiepileptics, hypnotics, antidepressants, corticosteroids, and local anesthetics. There are two pathogenic mechanisms of developing MDH: the first is T cell mediated and the second is IgE mediated. Activated T cells are directed against the culprit drug or its metabolites. MDH can be proven by positive responses to patch tests and/or delayed-reading intradermal tests as well as a positive lymphocyte transformation test. During the first DHR, the immune stimulation may lower the threshold of T cell reactivity to that drug and facilitate the immune response to the second drug, similar to viral infections. The drug-reactive T cells in patients with MDH display an enhanced state of activation. Less frequently, the pathogenic mechanism is IgE mediated. This can be proven by positive responses to an immediate-reading intradermal test and provocation test, as well as with positive specific IgE to culprit drug and a basophil activation test (BAT). A T cell-mediated reaction might be built on the IgE-mediated reaction. It is well-known that the tolerance mechanism to small molecular compounds fails in MDH patients, although the pathogenic mechanisms of this syndrome are still unknown.
Endocrine disrupting compounds (EDCs) are a wide group of contaminants of emerging concern known to be harmful for organisms. The aim of the study was to assess the occurrence and distribution of six EDCs (estrone—E1, ß-estradiol—E2, 17α-ethinylestradiol—EE2, bisphenol A—BPA, perfluooctanoic acid—PFOA, perfluorooctane sulfonate—PFOS) in the Apenninic rivers and groundwaters of the Romagna area (North of Italy). Groundwaters were unaffected by EDC contamination, while all classes of compounds were detected at concentrations above the method quantification limit (MQL) in the majority of the river bodies. In detail, PFOA and PFOS concentrations varied between <MQL and 17.7 ng/l (PFOA) and between <MQL and 5.5 ng/l (PFOS), and their occurrence in the aquatic compartment was related to the discharge of wastewater treatment plant effluents. Concerning estrogens, EE2 was below the MQL in all samples, whereas E1 and E2 reached concentrations up to 39.7 ng/l (E2) and 28 ng/l (E1) in surface waters. The highest estrogen values were registered in those areas where livestock and farming are the main activities, indicating a close relation between these activities and estrogen release into the aquatic compartment. BPA (<MQL–171.3 ng/l) distribution in river waters did not show any correlation with a specific anthropic activity; a mixture of sources of contamination (e.g., industries of food packaging and plastic production) is rather responsible for its detection in river bodies. Overall, the northern part of the Romagna area showed a higher contamination by EDCs, in contrast with the southern part, which was almost unaffected by this kind of microcontamination.
Metabolic Syndrome and Related Disorders , Vol. 0, No. 0.
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Hidradenitis suppurativa (HS) is rare in childhood, with only 2% of cases in patients younger than 11 years. It is a chronic, recurrent, debilitating condition for which no universally effective treatment has been developed. We present five cases of children with HS diagnosed between the ages of 6 and 11 years.
Patients were treated with oral finasteride 1 to 5 mg/day. All had entered puberty at the time of treatment initiation. All had normal laboratory results before starting treatment. The maximum duration of treatment was 24 months.
Four patients were female. Two were overweight. Three had been previously treated with oral antibiotics, and two of these with oral isotretinoin, with partial or no improvement. Overall improvement of the disease was observed in all patients, with a reduction of the frequency and intensity of the flares. No adverse effects were observed or reported during treatment.
Treatment of HS can be challenging. The options available include antimicrobials, immunosuppressants, hormonal therapies, lasers, and surgery. The authors report the largest series of children with HS treated with finasteride. The results support the use of finasteride as monotherapy for the treatment of this disease in children. Further studies are necessary to fully understand the role of this drug in the management of this disease.
Dear Colleagues,
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The Council of EACMFS wishes to ensure that all members of the Association are aware of the current awards and prizes that are available. These are designed to provide educational support and also to allow the opportunity for trainees and those who have recently achieved specialist status to visit units outside their own departments.
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Publication date: Available online 20 July 2017
Source:Journal of Electromyography and Kinesiology
Author(s): Jennie A. Jackson, Svend Erik Mathiassen, Jack P. Callaghan, Patrick G. Dempsey
AimThe object of this study was to quantify the contribution of sub-maximal normalisation to the overall variance of exposure parameters describing erector spinae (ES) activity, and to provide guidelines for task selection which minimize methodological variance.MethodsES EMG was measured from three locations (T9, L1 and L5 levels) on fifteen men performing a manual materials handling task in the laboratory on three separate days. Four repeats of each of eleven sub-maximal normalisation tasks (eight static, three dynamic) were collected, work data were normalised to each task and repeat, and exposure parameters calculated. The unique contribution of normalisation to the overall variance was determined for each task and exposure parameter using variance component analyses. Normalisation tasks were scored according to their relative contributions to the overall variance and coefficients of variation.ResultsA prone task, similar to the Biering-Sørensen test posture, was the most repeatable for all electrode locations and across all exposure parameters. Thoracic level normalisation typically showed poorer repeatability than lumbar normalisation.Discussion: To maximize measurement precision, we recommend that future ES EMG studies employing sub-maximal normalisation utilise said prone task. An alternate normalisation task specific to thoracic level ES muscles may be warranted.
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Amy S McKee | Philippa Marrack
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Klaus Früh | Louis Picker
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Takumi Kumai | Aaron Fan | Yasuaki Harabuchi | Esteban Celis
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Mansi Saxena | Nina Bhardwaj
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Thomas C Mitchell | Carolyn R Casella
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Kristin MS Schroeder | Amanda Agazio | Raul M Torres
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Symmastia is a difficult surgical problem to correct. Symmastia has various etiologies and can occur following reduction mammoplasty. Techniques previously described have been criticized for their limited success due to temporary results, inadequate correction, or creation of secondary deformities. In this study, we present a novel approach to correct symmastia in a patient who developed the deformity following reduction mammoplasty. The technique described uses a buried dermal pennant suture, local advancement flaps, and liposuction to correct the symmastia and improve medial breast contour. We believe this technique provides adequate and long-term correction of symmastia in the breast reduction patient and avoids the shortcomings of previously described approaches.
Level of Evidence: Level V, therapeutic study
Publication date: September 2017
Source:Biomedicine & Pharmacotherapy, Volume 93
Author(s): Yun-Yao Gu, Jian Chen, Zhu-Long Meng, Wan-Yu Ge, Yang-Yang Bian, Shao-Wen Cheng, Chen-Kun Xing, Jiang-Ling Yao, Jian Fu, Lei Peng
Osteoarthritis is a common disease and is frequently encountered in the older population; the incidence rises sharply with age. It is estimated that more than 360 million people suffer from OA. However, the pathogenesis of osteoarthritis remains unclear, and we cannot effectively prevent the progression of OA. The aim of this review was to explore the molecular markers and signaling pathways that induce chondrocyte apoptosis in OA. We searched, using the key words osteoarthritis, chondrocyte apoptosis, autophagy, endoplasmic reticulum stress, molecular targets, and biomarkers, in PubMed, Web of Science, and Google Scholar from 1994 to 2017. We also reviewed the signaling pathways and molecular markers associated with chondrocyte apoptosis and approaches aimed at inhibiting the apoptosis-inducing mechanism to at least delay the progression of cartilage degeneration in OA. This article provides an overview of targeted therapies and the related signaling pathways in OA.
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Publication date: September 2017
Source:Biomedicine & Pharmacotherapy, Volume 93
Author(s): Kevin Ita
Over the last number of years, a significant body of evidence has shown the benefit of using dissolving microneedles (DMNs) for transdermal drug delivery. These devices are prepared from a wide range of materials such as sugars and polymers. DMNs are mainly fabricated by micromolding, photopolymerization, drawing lithography and droplet-airborne blowing. In this review, we have focused on the advances made in the field in recent years using a representative set of studies. Although the list of studies is not exhaustive, they highlight the challenges encountered such as the need to increase mechanical strength as well as medication dose while ensuring fast release of the active ingredient. DMNs can be used to delivery low molecular drugs as well as peptides, proteins and other high molecular weight compounds.
In the oral cavity, genomic instability is caused by long-term exposure to carcinogens. The aim of the present study was to evaluate the relationship between smoking and DNA ploidy
Cytological material was obtained from patients participating in the Outpatient Smoking Treatment Program of the Heart Institute (INCOR-HCFMUSP), and of the Discipline of Oral Medicine (ICT-UNESP). The inclusion criteria for all groups were the absence of a history of malignant tumors, absence of clinical signs of changes in the selected area, and alcohol consumption of less than 3 units per week. Group 1: 30 smokers before smoking cessation treatment; Group 2: 30 non-smokers; Group 3: 30 ex-smokers abstinent for at least one year. Cytological smears were collected from the floor of the mouth and border of the tongue and stained by Feulgen. Aneuploidy was evaluated using the ACIS® III system
The Kruskal-Wallis test showed no statistically significant difference (p = 0.4383) between the groups studied. No association between tobacco consumption and aneuploidy was observed in group 1 (p = 1) or group 2 (p = 0.68) (Fisher's exact test)
Smoking was not associated with changes in DNA content or the incidence of aneuploidy in normal oral mucosa.
This article is protected by copyright. All rights reserved.
RESUMO Objetivo Caracterizar o perfil da fluência da fala de indivíduos com Doença de Parkinson em diferentes tarefas de fala. Método Participaram do estudo 40 indivíduos, de 40 a 80 anos de idade, de ambos os gêneros, divididos em 2 grupos: GP (grupo pesquisa - 20 indivíduos com diagnóstico de Doença de Parkinson); GC (grupo controle - 20 indivíduos sem qualquer alteração de comunicação e/ou neurológica). Para todos os participantes, foram coletadas três amostras de fala envolvendo diferentes tarefas: monólogo, leitura individual e fala automática. Resultados O GP apresentou um número significativamente maior de rupturas, tanto comuns quanto gagas, e maiores porcentagens de descontinuidade de fala e disfluências gagas nas tarefas de monólogo e leitura quando comparado ao GC. Nas tarefas de fala automática, ambos os grupos apresentaram número reduzido de rupturas comuns e gagas, não apresentando diferença significante entre os grupos para esta tarefa. Em relação à velocidade de fala, tanto em palavras quanto em sílabas por minuto, os indivíduos com Doença de Parkinson apresentaram velocidade reduzida em relação ao grupo controle em todas as tarefas de fala. Conclusão O GP apresentou alteração em todos os parâmetros da fluência avaliados no presente estudo quando comparado ao grupo controle, porém esta alteração da fluência não se configura como um quadro de gagueira.
RESUMO Objetivo Elaborar um instrumento para verificar a percepção dos contrastes mínimos, mediante a utilização de pares de sinais, os quais apresentam oposições em relação a um dos parâmetros: configuração de mão, locação de mão, movimento de mão e orientação de mão. Método Realizou-se um levantamento dos pares mínimos e foram confeccionadas figuras por um profissional das artes visuais, essas foram dispostas em três colunas, podendo ser iguais ou diferentes. Realizou-se a gravação de um vídeo contendo uma intérprete que realizava dois sinais por vez, para que o sujeito que fosse avaliado pudesse visualizá-los e apontar, nas figuras, quais sinais foram solicitados. Os julgadores analisaram os pares, referindo se estavam adequados, podendo realizar modificações ou solicitar que o par mínimo fosse retirado. Os julgadores verificaram ainda se as figuras estavam claras e se eram do vocabulário de crianças. Resultados A análise de concordância realizada entre os avaliadores mostrou resultado significativo para o critério julgado como 'não é par mínimo'. Foram retirados do instrumento 13 itens, pois variavam em mais de um parâmetro, configurando, dessa forma, pares análogos e não pares mínimos. Foram modificados 16 pares e acrescentados sete que variavam quanto ao parâmetro orientação, configurando um total de 35 pares mínimos na versão final do instrumento. Conclusão O objetivo de elaborar um instrumento de percepção de contrastes mínimos foi alcançado, sendo realizados alguns ajustes necessários durante a avaliação de seu conteúdo pelos juízes. O instrumento final foi composto por 35 pares, os quais diferem em somente um parâmetro.
RESUMO Objetivo conhecer as características orofaciais de idosos funcionalmente independentes e analisar a associação com a idade, gênero, nível socioeconômico e estado dentário. Método estudo observacional, transversal de caráter analítico com amostra não probabilística. Foi aplicado o instrumento validado "Protocolo de Avaliação Miofuncional Orofacial com Escalas para Idoso" em sujeitos funcionalmente independentes com idade igual ou acima de 60 anos, em boas condições de saúde segundo avaliação geriátrica padronizada, intitulada Protocolo de Avaliação Multidimensional do Idoso. Resultados os idosos apresentaram padrões de normalidade acima de 60% nos parâmetros de aspecto e mobilidade das estruturas. As alterações significantes foram: sulco nasolabial acentuado; bochechas flácidas ou arqueadas; vedamento labial com tensão ou ausência de vedamento e comissuras labiais deprimidas. As alterações de mobilidade foram pequenas, entre 20,6% e 33,8%, com maior prevalência na elevação da língua e lateralização do ar em bochechas infladas e da mandíbula. Não houve relação destes achados perante a progressão da idade e as classes socioeconômicas. As mulheres apresentaram maior chance de exibirem aspecto normal dos lábios e alguma alteração da mobilidade. O número de dentes associou-se com o volume e a configuração dos lábios e a mobilidade da mandíbula. Além disso, o uso de prótese dentária associou-se significativamente com o aspecto do sulco nasolabial e a tensão/configuração das bochechas. Conclusão este trabalho sugere que o sistema oromiofacial encontra-se dentro dos padrões de normalidade na maioria dos idosos funcionalmente independentes. O que ampara a atuação multiprofissional na prevenção, promoção e tratamento da saúde oromiofuncional dos idosos.
Almost half of asthmatic patients do not respond well to standard treatment. We proposed a network approach to identify key transcription factors and their target genes that may determine differential drug response in asthmatic patients.
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Journal Name: Journal of Pediatric Endocrinology and Metabolism
Issue: Ahead of print
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Allergen immunotherapy (AIT) is the only disease-modifying treatment available for allergic rhinitis (AR). Dosing considerations, efficacy, and safety of subcutaneous (SCIT), sublingual (SLIT), and intralymphatic (ILIT) immunotherapy are discussed.
Patients with AR who cannot tolerate or do not wish to continue indefinite pharmacotherapy may be candidates for AIT. SCIT is the gold standard formulation but requires repeat injections over several years and may place the patient at risk for systemic allergic reactions such as anaphylaxis. SLIT has been developed as an alternative formulation by which the patient can avoid multiple injections and physician visits as it is dosed at home. SLIT has been proven to be very safe but still requires prolonged treatment, and efficacy compared to SCIT has been questioned. ILIT is currently being developed with the goal of shortening length of treatment while maintaining the efficacy and safety of SCIT and SLIT.
SCIT and SLIT are current options for patients wishing to undergo AIT. Further studies are required to determine if ILIT may become an effective option for patients who do not wish to undergo long-term treatments.
After the "never" event framework was introduced, a core list of examples was drawn up in 2009 that included operations on the wrong site,1 and a further revision after April 2015 included extraction of the wrong tooth.2,3 We read with interest the article by Pemberton et al3 who found that extraction of the wrong tooth accounted for about a quarter of all procedures at the wrong site, and up to 10% of "never" events in total, all in hospital. As most dental extractions were done in primary care, this raises questions because, as far as we are aware, no data are available from this sector.
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I read with interest the recent paper by Chen et al1 and commend them on their original work. However, I would like to raise some important points.
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The correct orientation of specimens is important for histopathological diagnosis. Occasionally, after a resected specimen has been inspected, it may be necessary to remove a further section because of concern about involved margins. It is important to orient the second sample correctly with the first, or the potential for error is increased. The use of sutures to bind the specimens can cause artefacts, which can compromise histopathological evaluation. We describe a method to help orientate these specimens accurately.
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Our aim was to describe our experience of retrieval of accidental displacements of upper and lower molars into neighbouring anatomical spaces. Thirteen patients were evaluated retrospectively in terms of age, sex, affected side, jaw (mandible or maxilla), surgeon's experience, whether the extracted teeth had erupted, which portion of the tooth or teeth was displaced, the anatomical space into which the fragment was displaced, postoperative complaints, timing of the retrieval, type of anaesthesia, and surgical approach.
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We aimed to identify and evaluate the clinical challenges involved in microvascular flap reconstructions of defects caused by resection of head and neck cancer among patients aged 85 and over. We designed a retrospective study of patients who were treated in the head and neck department of a tertiary referral centre from 2005 to 2015, and all patients aged 85 years and over who had reconstructions with microvascular flaps for head and neck cancer were entered into the study. A total of 24 patients fulfilled the criteria, of whom 15 were men and nine were women.
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We describe what is to our knowledge the first reported intraosseous spindle cell lipoma of the mandible. It is the first spindle cell lipoma we have seen that shows dental resorption, and the largest that we have seen published (60×30×20mm).
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Titanium mesh implants have proved their effectiveness in the reconstruction of fractures of the orbital wall, and their compromise between stiffness and elasticity allows for optimal support of the orbital contents. However, after recurrent orbital trauma, these implants (even when properly positioned) can become a potential "penetrating object" that threatens the critical adjacent anatomical structures. We report the case of a patient with recurrent facial trauma whose orbit had previously been reconstructed with a titanium implant, and which resulted in severe deformation.
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A sagittal fracture of the mandibular condyle is routinely fixed with screws because they can provide stability, functional restoration, and anatomical reduction.1,2 Plates and screws (and other materials used for osteosynthesis) are not routinely removed unless the patients has particular symptoms or complications,3 but it is a common procedure in the craniomaxillofacial region.3,4 When larger devices are removed we often reopen the original incisions, but because screws are so small it is better to use a different, minimal incision.
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Little is known about biosecurity measures and toxic effects during pesticide application in the province of Jujuy, Argentina, particularly concerning the protective measures and mixture of pesticides used by rural workers. We carried out an observational study of agricultural workers from Jujuy (76 exposed subjects and 53 controls) to investigate the prevalence of chromosomal aberrations (CAs) in human lymphocytes as well as the activity level of acetylcholinesterase (AChE) in red blood cell erythrocytes. Whole blood samples (5 mL) were collected in heparinized Vacutainer tubes for cytogenetic analysis and erythrocyte cholinesterase activity determination according to Ellman's method. Cytogenetic results showed a significant CA increase in pesticide-exposed individuals as compared with controls (4.20 ± 0.15 vs. 1.00 ± 0.05, respectively; p < 0.001), suggesting that pesticides are clastogenic agents causing DNA damage. Erythrocyte cholinesterase activity was significantly lower in exposed individuals, evidencing the possible occurrence of perturbations in blood as well as neurotoxicity in pesticide sprayers. These results suggest the need for periodic biomonitoring of these biomarkers together with education and training of occupational workers for the safe application of potentially harmful pesticides.
Systemic allergic reactions to stinging insects occur in approximately 1% of children and 3% of adults.1 Immunoglobulin E (IgE)-mediated reactions can present as systemic reactions or large local reactions.1 Systemic reactions present with symptoms related to urticaria, angioedema, airway obstruction, and hypotension (and sometimes abdominal pain, bronchospasm, or cardiac abnormalities) within 5 to 30 minutes after an insect sting.2 Large local reactions present as swelling of at least 10 cm in diameter that is contiguous with the sting site, increases in size for 1 to 2 days, and resolves over 5 to 10 days.
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Publication date: Available online 20 July 2017
Source:Auris Nasus Larynx
Author(s): Mohammad Kamal Mobashir, Waleed M. Basha, Abd ElRaof Said Mohamed, Mohammed Elsayed Elmaghawry
ObjectiveThe main goal of surgery in acquired middle ear cholesteatomas is the complete eradication of the disease with an ear free of discharge. This can be performed either by open or closed techniques with their benefits and drawbacks. We present the technique of reposition of the posterior canal wall for the management of cholesteatoma cases and its results and outcome.Patients and methodsThis study included 31 patients with primary acquired middle ear cholesteatoma. The surgical technique included complete cortical mastoidectomy, wide posterior tympanotomy, dividing the bony posterior meatal wall with a micro-sagittal saw and its removal, dissection and eradication of cholesteatoma, and repositioning the canal wall segment in its anatomical site.ResultsNo significant intraoperative complication occurred. An injury to the dura occurred in one patient. Damage of the bony posterior canal wall occurred in two patients during saw cutting. Residual cholesteatoma was found in two patients. No dislocation or necrosis of the reconstructed posterior canal wall was noted and the new reconstructed external ear canal appeared to be of near normal size, shape, and contour.ConclusionThis technique provides optimal surgical exposure and access to areas that are difficult to reach by CWU approach, allows removal of the cholesteatoma without intraoperative complications, decreases the rate of residual cholesteatoma, restores near-normal anatomy of the external auditory canal, and avoids the sequelae of the open mastoid cavity. Therefore, it would be a feasible alternative to the standard CWU and CWD procedures.
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Publication date: Available online 19 July 2017
Source:Auris Nasus Larynx
Author(s): Holger H. Sudhoff, Stefan Mueller
Eustachian tube dysfuntion intends to describe a variety of signs, symptoms, and physical findings that result from the impairment of ET function. A large variety of methods have been employed to assess ET function in the literature. Due to the lack of high level evidence, it is difficult to draw conclusions on the effectiveness of medical and surgical treatments. There are various medical and surgical interventions available for chronic obstructive ET dysfunction including balloon Eustachian tuboplasty (BET) and laser or microdebrider tuboplasty. Consensus on diagnostic criteria for ETD is required to define inclusion criteria of future trials. There is however emerging work with reassuring, but preliminary, results that suggest evidence for safety in the surgical management of ETD. Like many newly introduced techniques the current data remains limited to non-controlled case-series, with heterogeneous data collection methods and lacking substantial long-term outcomes. Nevertheless, short-term data provide favorable results. Current treatment options comprising BET and patulous ET surgery may be offered as a treatment possibility to selected patients.
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Obstructive sleep apnoea (OSA) is a sleep-related breathing disorder, characterized by repetitive airway obstructions, causing disruptive snoring and daytime sleepiness. Maxillomandibular advancement (MMA), which enlarges the upper airway, is a therapeutic surgical approach. However, no study has performed an upper airway sub-region analysis using validated three-dimensional (3D) anatomical and technical limits on cone beam computed tomography (CBCT). Hence, this prospective, observational trial was performed to evaluate 3D volumetric changes in the upper airway according to validated 3D cephalometric landmarks, before and after MMA, for all patients with a polysomnography diagnosis of OSA (apnoea–hypopnoea index (AHI) ≥5).
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Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted.
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The authors regret that an error was present within the reference list – the names of the authors and the year of publication were incorrectly listed for reference number 68. The corrected reference is shown below:
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The main goal of surgery in acquired middle ear cholesteatomas is the complete eradication of the disease with an ear free of discharge. This can be performed either by open or closed techniques with their benefits and drawbacks. We present the technique of reposition of the posterior canal wall for the management of cholesteatoma cases and its results and outcome.
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There is a group of lesions in the head and neck region derived from branchial arches and related structures which, when inflamed, are characterized by the formation of cysts lined by squamous or glandular epithelium and surrounded by a heavy inflammatory infiltrate rich in germinal centers. In the thyroid, the main source of various structures which may cause diagnostic dilemma is the ultimobranchial body. To investigate the spectrum of such thyroid lesions, the consultation files were reviewed for thyroid samples containing pathological structures regarded to arise from the ultimobranchial body. Positive reaction with antibodies against CK5/6, p63, galectin 3, and CEA, and negative reaction with antibodies against thyroglobulin, TTF-1, and calcitonin were used to confirm the diagnosis. The specific subtype of the ultimobranchial body-derived lesion was then determined based on histological examination of H&E-stained slides. Twenty-one cases of ultimobranchial body-derived lesions were retrieved from the consultation files, 20 of them along with clinical information (M/F = 6/14, mean age 55 years, range 36–68 years). Lesions derived from the ultimobranchial body were classified as follows: (hyperplastic) solid cell nests (nine cases), solid cell nests with focal cystic change (five cases), cystic solid cell nests (two cases), branchial cleft-like cyst (four cases), and finally a peculiar Warthin tumor-like lesion (one case). We suggest that the common denominator of these structures is that they all arise due to activation of inflammatory cells around the vestigial structures, which leads to cystic dilatation and proliferation of the epithelial component.
J reconstr Microsurg
DOI: 10.1055/s-0037-1603735
Background When mobilizing free flaps, postoperative monitoring of perfusion is crucial to detect ischemia. Continuous monitoring may be feasible by applying a combination of tissue spectrophotometry and laser Doppler flowmetry (oxygen-2-see [O2C]). Material and Methods On 10 pigs, two symmetrical myocutaneous flaps were mobilized on each side of the abdomen based on the deep inferior epigastric vessels. Flaps were randomized to clamp either the artery or the vein and measurements using O2C were performed before, during, and after the intervention yielding information on blood flow, saturation (sat), and relative tissue hemoglobin (rHgb) concentration. Results Baseline values were similar in all groups. Introduction of ischemia caused a rapid decline in arterial ischemic flaps which all reached threshold levels in 3 minutes, whereas that was only the case for three of six venous ischemic flaps. Venous clamping resulted in a decline in sat, while the response to arterial clamping was an initial decline followed by an increase in sat. In all arterial ischemic flaps, rHgb concentration either decreased or remained at baseline levels but increased in all venous ischemic flaps. The median time to a 30% rise was 1 minute at an 8-mm depth. The rate of decreasing flow along with the rHgb measurements made it possible to distinguish the arterial ischemia (AI) from the venous ischemia (VI) within the first few minutes. Conclusion In this animal experimental model, O2C measurements of blood flow reliably detected ischemia. By adding information about rHgb, it was possible to distinguish between AI and VI.
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Semin Hear 2017; 38: 225-262
DOI: 10.1055/s-0037-1603726
Noise levels are truly continuous in relatively few occupations, with some degree of intermittency the most common condition. The sound levels of intermittent noise are often referred to as non-Gaussian in that they are not normally distributed in the time domain. In some conditions, intermittent noise affects the ear differently from continuous noise, and it is this assumption that underlies the selection of the 5-dB exchange rate (ER). The scientific and professional communities have debated this assumption over recent decades. This monograph explores the effect of non-Gaussian noise on the auditory system. It begins by summarizing an earlier report by the same author concentrating on the subject of the ER. The conclusions of the earlier report supported the more conservative 3-dB ER with possible adjustments to the permissible exposure limit for certain working conditions. The current document has expanded on the earlier report in light of the relevant research accomplished in the intervening decades. Although some of the animal research has supported the mitigating effect of intermittency, a closer look at many of these studies reveals certain weaknesses, along with the fact that these noise exposures were not usually representative of the conditions under which people actually work. The more recent animal research on complex noise shows that intermittencies do not protect the cochlea and that many of the previous assumptions about the ameliorative effect of intermittencies are no longer valid, lending further support to the 3-dB ER. The neurologic effects of noise on hearing have gained increasing attention in recent years because of improvements in microscopy and immunostaining techniques. Animal experiments showing damage to auditory synapses from noise exposures previously considered harmless may signify the need for a more conservative approach to the assessment of noise-induced hearing loss and consequently the practice of hearing conservation programs.
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Cranial Maxillofac Trauma Reconstruction
DOI: 10.1055/s-0037-1604426
The aim of this article is to identify the prevalence of posttraumatic psychological symptoms following maxillofacial trauma among an Indian population sample and assess changes in these symptoms over a period of time. Forty-eight adult patients were assessed within 2 weeks of injury with two follow-up visits (4–6 weeks and 12–14 weeks). Patients were administered three self-reporting questionnaires in local language (GHQ-12; HADS; TSQ) on all occasions. Relevant sociodemographic and clinical data were obtained. Forty patients were included in the final analysis. Emotional distress was present in nine participants and five participants satisfied the TSQ criteria for a diagnosis of stress disorder. Anxiety and depression were observed in 10 and 4 patients, respectively. Characteristics associated with abnormal high scores included substance abuse, low education and income levels, facial scars, and complications needing additional intervention. These findings reveal the abnormal psychological response to maxillofacial trauma in immediate and follow-up periods. The use of such screening tools can be considered by the maxillofacial surgeon for early identification of psychological symptoms and referral to the psychiatrist.
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Publication date: Available online 20 July 2017
Source:Journal of Allergy and Clinical Immunology
Author(s): Weiliang Qiu, Feng Guo, Kimberly Glass, Guo Cheng Yuan, John Quackenbush, Xiaobo Zhou, Kelan G. Tantisira
BackgroundVariations in drug response between individuals have prevented us from achieving high drug efficacy in treating many complex diseases, including asthma. Genetics plays an important role in accounting for such inter-individual variations in drug response. However, systematic approaches for addressing how genetic factors and their regulators determine variations in drug response in asthma treatment are lacking.MethodsWe used PANDA (Passing Attributes between Networks for Data Assimilations) to construct the gene regulatory networks associated with good responders and poor responders to inhaled corticosteroids based on a subset of 145 Caucasian asthmatic children who participated in the Childhood Asthma Management Cohort (CAMP). PANDA utilizes gene expression profiles and published relationships among genes, transcription factors (TFs), and proteins to construct the directed networks of TFs and genes. We assessed the differential connectivity between the gene regulatory network of good responders vs. that of poor responders.ResultsWhen compared to poor responders, the network of good responders has differential connectivity and distinct ontologies (e.g., pro-apoptosis enriched in network of good responders and anti-apoptosis enriched in network of poor responders). Many of the key hubs identified in conjunction with clinical response are also cellular response hubs. Functional validation demonstrated abrogation of differences in corticosteroid treated cell viability following siRNA knockdown of two TFs and differential downstream expression between good-responders and poor-responders.ConclusionsWe have identified and validated multiple transcription factors influencing asthma treatment response. Our results show that differential connectivity analysis can provide new insights into the heterogeneity of drug treatment effects.
Although evidence of mosquito coils' impact on disease epidemiology is limited, they are popularized as mosquito-borne disease prevention devices. Their usage affects the environment, human and mosquito health. This study investigated the perception, usage pattern and efficacy of coils in a predominantly poor malaria-endemic Ghanaian peri-urban area. Information on protection methods, perception and usage pattern was garnered using questionnaires. The efficacy of commonly used coils in the area was then assessed on the malaria vector, Anopheles gambiae, in a glass chamber. Sole or co-application of mosquito control methods and risky usage practices were reported. Coils were deemed harmful to humans and mosquitoes, and their perceived effectiveness varied, with several factors influencing their purchase. High d-allethrin concentration coils induced quicker mosquito knockdown; however, mortality was less than 85%. The coil usage pattern compromises users' health and can enhance mosquito tolerance to d-allethrin. The coils were ineffective against the vector, outlining a dichotomy between the users' perception of efficacy and the observed efficacy. Hence, the usage of other safer and more effective vector control methods should be encouraged to protect households.
Several fMRI studies in migraine assessed resting state functional connectivity in different networks suggesting that this neurological condition was associated with brain functional alteration. The aim of pre...
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Hemicrania continua (HC), paroxysmal hemicrania (PH) and short lasting neuralgiform headache attacks (SUNCT and SUNA) are rare syndromes with a difficult therapeutic approach. The aim of this review is to summ...
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Publication date: Available online 20 July 2017
Source:Clinical Imaging
Author(s): Derek M. Biederman, Raghuram Posham, Raisa J. Durrani, Joseph J. Titano, Rahul S. Patel, Nora E. Tabori, Francis S. Nowakowski, Aaron M. Fischman, Robert A. Lookstein, Edward Kim
PurposeTo evaluate the outcomes of radioembolization (RE) as a therapy for unresectable hepatocellular carcinoma (HCC) in patients with marginal functional hepatic reserve.MethodsA retrospective review of 471 patients (1/2010–7/2015) treated with RE (Therasphere, BTG, UK) was performed. A total of 36 patients (mean age: 66.1±9.3, male: 86.1%) underwent therapy for HCC with a MELD≥15 (median: 16, range: 15–22). Baseline demographics of the study cohort were as follows: etiology (HCV: 26, 72.2%), cirrhosis (n=32, 88.9%), ECOG 0 (n=16, 44.4%), Child-Pugh class (A=15, B=19, C=2), unilobar distribution (n=27, 75%), AFP>200 (n=11, 30.6%), portal vein thrombosis (PVT, n=7, 19.4%), metastasis (n=3, 8.3%). Outcomes analyzed included CTCAEv4.03 laboratory toxicities (120-day), imaging response (mRECIST), progression-free survival (PFS), and overall survival (OS).ResultsA total of 42 treatments were performed with mean dose of 2.02±1.23GBq. The cumulative grade 3/4 toxicity was 28% overall and 21% for bilirubin at 120-days. The objective response and disease control rates were 48.3% (14/29) and 69% (20/29) respectively. The median (95% CI) PFS was 5.9 (4.4–7.7) months. Ten (27.8%) patients received additional locoregional therapy at a median (IQR) of 138 (102–243) days post RE. The mean (95% CI) OS was 21.9 (14.8–29.0) months. The absence of PVT was associated with improved OS (p=0.005) Disease control at 90-days was also associated with an OS benefit (p=0.037).ConclusionsPatients with unresectable HCC and marginal functional hepatic reserve treated with RE had favorable objective response and disease control rates, both predictive of overall survival.
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Oral cancer; the sixth most common malignancy in the world has one of the lowest 5 year survival rates. This can be attributed mainly to the delay in diagnosis. The purpose of this study was to evaluate the efficacy of vital staining with toluidine blue dye as an adjunct to standard clinical examination to facilitate early detection of malignant lesions of oral cavity and oropharynx. A hospital based diagnostic test accuracy study was carried out on 55 subjects with oral mucosal disorders that included clinically suspicious premalignant or malignant lesions, in the Department of ENT, Academy of Medical Sciences, Pariyaram, Kannur, Kerala over a period of 2 years. All lesions were subjected to detailed clinical examination and toluidine blue staining; and dye retention was recorded with photographs. The results of staining were compared with findings on histopathological examination. The Sensitivity and specificity of toluidine blue test for the detection of malignancy was 92.6 and 67.9% respectively; and the overall diagnostic accuracy was 80%. The result was highly significant with a 'p value' <0.001. The results indicate that toluidine blue staining is a simple, non-invasive technique which can be a valuable adjunct in the diagnostic process of oral and oropharyngeal cancers.
Oral cancer; the sixth most common malignancy in the world has one of the lowest 5 year survival rates. This can be attributed mainly to the delay in diagnosis. The purpose of this study was to evaluate the efficacy of vital staining with toluidine blue dye as an adjunct to standard clinical examination to facilitate early detection of malignant lesions of oral cavity and oropharynx. A hospital based diagnostic test accuracy study was carried out on 55 subjects with oral mucosal disorders that included clinically suspicious premalignant or malignant lesions, in the Department of ENT, Academy of Medical Sciences, Pariyaram, Kannur, Kerala over a period of 2 years. All lesions were subjected to detailed clinical examination and toluidine blue staining; and dye retention was recorded with photographs. The results of staining were compared with findings on histopathological examination. The Sensitivity and specificity of toluidine blue test for the detection of malignancy was 92.6 and 67.9% respectively; and the overall diagnostic accuracy was 80%. The result was highly significant with a 'p value' <0.001. The results indicate that toluidine blue staining is a simple, non-invasive technique which can be a valuable adjunct in the diagnostic process of oral and oropharyngeal cancers.
Biochar is a potential candidate for the remediation of metal(loid)-contaminated soils. However, the mechanisms of contaminant-biochar retention and release depend on the amount of soil contaminants and physicochemical characteristics, as well as the durability of the biochar contaminant complex, which may be related to the pyrolysis process parameters. The objective of the present study was to evaluate, in a former contaminated smelting site, the impact of two doses of wood biochar (2 and 5% w/w) on metal immobilization and/or phytoavailability and their effectiveness in promoting plant growth in mesocosm experiments. Different soil mixtures were investigated. The main physicochemical parameters and the Cd, Pb, and Zn contents were determined in soil and in soil pore water. Additionally, the growth, dry weight, and metal concentrations were analyzed in the different dwarf bean plant (Phaseolus vulgaris L.) organs tested. Results showed that the addition of biochar at two doses (2 and 5%) improved soil conditions by increasing soil pH, electrical conductivity, and water holding capacity. Furthermore, the application of biochar (5%) to metal-contaminated soil reduced Cd, Pb, and Zn mobility and availability, and hence their accumulation in the different P. vulgaris L. organs. In conclusion, the data clearly demonstrated that biochar application can be effectively used for Cd, Pb, and Zn immobilization, thereby reducing their bioavailability and phytotoxicity.