May the year be brighter than the one gone by; enveloped in goodness, well being, bliss and wealth. Happy New Year!

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com

Gradenigo syndrome and primitive sphenoid sinus cancer

Publication date: Available online 31 December 2016
Source:Egyptian Journal of Ear, Nose, Throat and Allied Sciences
Author(s): Jbali Souheil, Dhaha Mohamed, Dhambri Sawssen, Kedous Skander, Hedhili Farah, Yazid Delia, Abidi Rim, Attia Zied, Touati Slim, Gritli Said
First described in 1907, Gradenigo's syndrome associates the following triad: acute otitis media as a causative infection of petrous apicitis, ipsilateral abducens nerve palsy and trigeminal neuralgia. This entity is becoming rare because of the wide use of antibiotics. The above definition can be extended as the fifth and sixth cranial nerves are intimately related near the apex of the petrous bone. Thus, any adjacent process may cause petrositis and palsies of these nerves.Paranasal sinus adenocarcinomas are common. But primitive sphenoid bone localization is exceptional and manifest usually with a deep retro orbital headache.¹Gardenigo's syndrome is a rare revelation mode of sphenoid tumors.We report the case of a 55-years old female with a history of Budd Chiari syndrome, who presented with a typical Gradenigo's Syndrome. The imaging showed an invasive process of sphenoid sinus. trans-sphenoidal biopsy concluded to adenocarcinoma. As the patient was inoperable, palliative radiotherapy was indicated.



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Neonatal Sacrococcygeal Neuroblastoma Mimicking a Teratoma

We reported the first case of a congenital intrapelvic presacral neuroblastoma in Puerto Rico managed in the early neonatal period. The preoperative diagnosis was a sacrococcygeal teratoma Altman stage IV classification. This case confirms the importance of a comprehensive physical examination and observation of low-risk newborn infants with a history of adequate prenatal care and an unremarkable fetal ultrasonogram during pregnancy.

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Mixed Botryoid and Spindle Cell Bladder Rhabdomyosarcoma: An Outstanding Pediatric Case

We report a case of a 3-year-old North African child, initially assessed for nonspecific urinary symptoms such as haematuria and burning urination. The ultrasound evaluation showed a vegetating mass occupying the lumen with weak vascular signs at the Colour-Doppler evaluation. An explorative cystoscopy was performed and it revealed a nonbleeding lesion, white in colour, pedunculated, projecting into the lumen, and associated with a brown satellite formation. Histological examination showed a mixed Botryoid and Spindle Cell Rhabdomyosarcoma. This mixed histology has not been described before and no statistical data are reported in literature so far. Despite the Embryonal Rhabdomyosarcoma variant being the most common, the association characterized by two histological Rhabdomyosarcoma subtypes such as Botryoid and Spindle Cell is rarely observed and it is important to get an accurate histological diagnosis in order to immediately start the correct treatment protocol.

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IL-1 and IL-36 are dominant cytokines in generalized pustular psoriasis

Publication date: Available online 31 December 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): Andrew Johnston, Xianying Xing, Liza Wolterink, Drew H. Barnes, ZhiQiang Yin, Laura Reingold, J. Michelle Kahlenberg, Paul W. Harms, Johann E. Gudjonsson
BackgroundGeneralized pustular psoriasis (GPP) is a rare, debilitating, and often life-threatening inflammatory disease characterized by episodic infiltration of neutrophils into the skin, pustule development, and systemic inflammation, which can manifest in the presence or absence of chronic plaque psoriasis (PV). Current treatments are unsatisfactory warranting a better understanding of GPP pathogenesis.ObjectiveTo understand better the disease mechanism of GPP to allow improved targeted therapies.MethodsWe performed a gene expression study on formalin-fixed paraffin-embedded GPP (n=28) and PV (n=12) lesional biopsies and healthy control (n=20) skin. Differential gene expression was analyzed using gene ontology and enrichment analysis. Gene expression was validated with qRT-PCR and immunohistochemistry, and a potential disease mechanism investigated using primary human cell culture.ResultsCompared with healthy skin, GPP lesions yielded 479 and PV 854 differentially expressed genes respectively, with 184 upregulated in both diseases. We detected significant contributions of IL-17A, TNF, IL-1, IL-36 and interferons in both diseases; although GPP lesions furnished higher IL-1 and IL-36 and lower IL-17A and interferon-γ mRNA expression than PV. We detected prominent IL-36 expression by keratinocytes proximal to neutrophilic pustules and show that both neutrophils and neutrophil proteases activate IL-36. Suggesting another mechanism regulating IL-36 activity, the protease inhibitors serpin A1 and A3, which inhibit elastase and cathepsin G respectively, were upregulated in both diseases and inhibited activation of IL-36.ConclusionsOur data indicate sustained activation of IL-1 and IL-36 in GPP, inducing neutrophil chemokine expression, infiltration and pustule formation, suggesting that the IL-1/IL-36 inflammatory axis is a potent driver of disease pathology in GPP.

Graphical abstract

Teaser

Current treatments for generalized pustular psoriasis are unsatisfactory. We applied recently-developed techniques for transcriptomic analysis of archived FFPE biopsies revealing pro-inflammatory IL-1, IL-17, TNF and IL-36 activity, which provides a rationale for biologic targeting of these cytokines.


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Bcl-2 Inhibitors Reduce Steroid-insensitive Airway Inflammation

Publication date: Available online 31 December 2016
Source:Journal of Allergy and Clinical Immunology
Author(s): Bao-ping Tian, Li-xia Xia, Zheng-qiang Bao, Hao Zhang, Zhi-wei Xu, Yuan-yuan Mao, Chao Cao, Luan-qing Che, Jin-kai Liu, Wen Li, Zhi-hua Chen, Songmin Ying, Hua-hao Shen
BackgroundAsthmatic inflammation is dominated either by eosinophil and/or neutrophil accumulation in airways. Disposal of these inflammatory cells is the key to disease control. Eosinophilic airway inflammation is responsive to corticosteroid treatment, while neutrophilic inflammation is resistant and increases the burden of global health care. Corticosteroid resistant neutrophilic asthma remains mechanistically poorly understood and requires novel effective therapeutic strategies.ObjectiveWe thought to explore the underlying mechanisms of airway inflammation persistence as well as corticosteroid resistance, and to investigate a new strategy of effective treatment against corticosteroid-insensitive neutrophilic asthma.MethodsMouse models of either eosinophils-dominated or neutrophils-dominated airway inflammation were used in this study to test corticosteroid sensitivity in vivo and in vitro. We also used vav-Bcl-2 transgenic mice to confirm the importance of granulocytes apoptosis in the clearance of airway inflammation. Finally, Bcl-2 inhibitors ABT-737 or ABT-199 –were tested for their therapeutic effects against eosinophilic or neutrophilic airway inflammation and airway hyperresponsiveness.ResultsOverexpression of Bcl-2 protein was found to be responsible for persistence of granulocytes in bronchoalveolar lavage fluid following allergic challenge. This was important as allergen-induced airway inflammation aggravated and persisted in vav-Bcl-2 transgenic mice, where nucleated hematopoietic cells were over-expressed with Bcl-2 and resistant to apoptosis. Bcl-2 inhibitors, ABT-737 or ABT-199, play efficient roles in alleviation of either eosinophilic or corticosteroid resistant-neutrophilic airway inflammation, by inducing apoptosis of immune cell, such as eosinophils, neutrophils, Th2, Th17 and dendritic cells. Moreover, these inhibitors were found to be more efficient than steroid to induce granulocytes apoptosis ex vivo from severe asthma patients.ConclusionApoptosis of inflammatory cells is essential for the clearance of allergen-induced airway inflammation. Bcl-2 inhibitors ABT-737 or ABT-199 may be promising drugs for the treatment against airway inflammation, especially for corticosteroid-insensitive neutrophilic airway inflammation.

Teaser

Bcl-2 inhibitors may be promising drugs for the treatment against corticosteroid-insensitive neutrophilic airway inflammation.


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The fate of the free flap pedicle after free tissue transfer to the head and neck area

Publication date: February 2017
Source:Oral Oncology, Volume 65
Author(s): Maarten L.V. Van Genechten, Martin D. Batstone
ObjectivesLittle is understood about what happens to the vascular pedicle following free tissue transfer in the head and neck region. The viability of a free flap completely depends on the vascular supply by its vascular pedicle until neovascularization occurs from surrounding tissues. The aim of this study is to find out how long a vascular pedicle lasts following free tissue transfer in the head and neck region.Materials and methodsPatients were recruited from the Maxillofacial Unit at the Royal Brisbane & Women's Hospital. A Doppler ultrasound was used to map the vascular pedicle immediately postoperatively, at 2weeks, 6weeks, 3months and 6months.ResultsFifty-seven consecutive free flaps underwent colour Doppler ultrasonography at the timepoints described demonstrating the status of the vascular pedicle. All the patients underwent reconstructive head and neck surgery with a wide variety of soft tissue and composite free flaps.ConclusionThis study is the first to document the fate of the vascular pedicle over a long time period for a wide variety of head and neck free flaps. This information is important when undertaking revision surgery to the free flap, or planning the vascular supply for a second or third free flap to the head and neck region.



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Smoking status regulates a novel panel of PIWI-interacting RNAs in head and neck squamous cell carcinoma

Publication date: February 2017
Source:Oral Oncology, Volume 65
Author(s): Aswini R. Krishnan, Avinaash Korrapati, Angela E. Zou, Yuanhao Qu, Xiao Qi Wang, Joseph A. Califano, Jessica Wang-Rodriguez, Scott M. Lippman, Melbourne F. Hovell, Weg M. Ongkeko
ObjectiveSmoking remains a primary etiological factor in head and neck squamous cell carcinoma (HNSCC). Given that non-coding RNAs (ncRNAs), including PIWI-interacting RNAs (piRNAs), have emerged as mediators of initiation and progression in head and neck malignancies, we undertook a global study of piRNA expression patterns in smoking-associated HNSCC.Materials and methodsUsing RNA-sequencing data from 256 current smoker and lifelong nonsmoker samples in The Cancer Genome Atlas (TCGA), we analyzed the differential expression patterns of 27,127 piRNAs across patient cohorts stratified by tobacco use, with HPV16 status and tumor status taken into account. We correlated their expression to clinical characteristics and to smoking-induced alterations of PIWI proteins, the functional counterparts of piRNAs. Finally, we correlated our identified piRNAs and PIWI proteins to known chromosomal aberrations in HNSCC to understand their wider-ranging genomic effects.Results and conclusionOur analyses implicated a 13-member piRNA panel in smoking-related HNSCC, among which NONHSAT123636 and NONHSAT113708 associated with tumor stage, NONHSAT067200 with patient survival, and NONHSAT081250 with smoking-altered PIWIL1 protein expression. 6 piRNAs as well as PIWIL1 correlated with genomic alterations common to HNSCC, including TP53 mutation, TP53-3p co-occurrence, and 3q26, 8q24, and 11q13 amplification. Collectively, our findings provide novel insights into the etiology-specific piRNA landscape of smoking-induced HNSCC.



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Determinants of stimulated salivary flow among haematopoietic stem cell transplantation recipients

Abstract

Objectives

The aetiology of hyposalivation in haematopoietic stem cell transplantation (HSCT) recipients is not fully understood. This study examined the effects of treatment-related aetiological factors, particularly medications, on stimulated salivary flow in HSCT recipients.

Subjects and methods

Adult HSCT recipients (N = 118, 66 males, 27 autologous and 91 allogeneic transplants) were examined. Stimulated whole salivary flow rates (SWSFR) were measured before HSCT and at 6 and 12 months post-HSCT. Linear regression models were used to analyse the associations of medications and transplant-related factors with salivary flow rates, which were compared to salivary flow rates of generally healthy controls (N = 247).

Results

The SWSFR of recipients were lower pre-HSCT (mean ± standard deviation, 0.88 ± 0.56 ml/min; P < 0.001), 6 months post-HSCT (0.84 ± 0.61; P < 0.001) and 12 months post-HSCT (1.08 ± 0.67; P = 0.005) than the SWSFR of controls (1.31 ± 0.65). In addition, hyposalivation (<0.7 ml/min) was more frequent among HSCT recipients pre-HSCT (P < 0.001), 6 months post-HSCT (P < 0.001) and 12 months post-HSCT (P = 0.01) than among controls. The SWSFR was observed to improve over time being significantly higher 12 months post-HSCT compared to pre-HSCT (P < 0.001). The observed decrease of salivary flow could not be explained by the examined transplant-related factors and medications.

Conclusions

Decreased stimulated salivary flow rates could not be explained by the examined factors alone; these findings indicate that hyposalivation in HSCT recipients exhibits a multifactorial aetiology.

Clinical relevance

All HSCT recipients should be considered to be at high risk of hyposalivation and consequent oral diseases, and they should be treated accordingly.

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Bonding effectiveness and multi-interfacial characterization of two direct buildup resin core systems bonded to post-space dentin

Abstract

Objectives

The aim of the present study was to evaluate the bonding effectiveness of two resin core buildup systems using conventional methods in the field of adhesive dentistry and a new non-destructive method.

Materials and methods

Twenty-four single-rooted human teeth were built up with dual-cure one-step self-etch adhesive and composite systems (SY1: Clearfil DC bond and Clearfil DC core automix, SY2: Clearfil bond SE one and Clearfil DC core automix one). The prepared samples were sectioned into approximately 1 × 1-mm-thick beams and subjected to micro-tensile bond strength (μTBS) testing (n = 24). The fractured beams after μTBS testing were analyzed by SEM and energy-dispersive X-ray (EDX) spectrometry. The three teeth filled with each resin core system were sectioned and embedded in epoxy resin to observe the dentin–bonding interface under TEM (n = 6). Moreover, three of each resin core-filled teeth without any processing were examined using μCT (n = 6).

Results

Two-way ANOVA revealed that the two factors "root region" (p < 0.001, F = 15.22) and "system" (SY1 < SY2; p < 0.001, F = 22.52) had a significant influence. The μTBS gradually decreased from the coronal side to the apical side of the root canal. Morphological evaluation revealed that SY2 was superior in terms of resin curing at the apical side. μCT non-destructive evaluation clearly revealed gap formation in SY1.

Conclusion

SY2, which included a new light-independent catalyst, showed better bonding effectiveness and adhesive interface to dentin compared to that of SY1.

Clinical relevance

The new catalyst, which is activated by contact with adhesive and resin composite, can be used for resin core buildup restorations.

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Short-term changes on C-reactive protein (CRP) levels after non-surgical periodontal treatment in systemically healthy individuals

Abstract

Objectives

The aim of the present study was to evaluate serum C-reactive protein (CRP) levels in chronic periodontitis patients and periodontally healthy individuals and to assess the effect of non-surgical periodontal treatment on the CRP levels.

Materials and methods

Twenty-two patients with chronic periodontitis (test group) and 22 periodontally healthy individuals (control group), both groups without any systemic disorder or potential confounding factors, were included in the study. At baseline, periodontal clinical variables and CRP levels were obtained in both groups. In the test group, oral hygiene instruction and scaling and root planning were carried out; then, after 60 days, periodontal clinical variables and CRP levels were reevaluated.

Results

The baseline CRP level in the test group was significantly higher than the corresponding value in the control group (1.98 ± 1.55 vs. 1.26 ± 1.05 mg/L; p < 0.05). After periodontal treatment in the test group, there were improvements in all periodontal clinical variables (p < 0.05). The CRP level decreased significantly in those patients with higher baseline levels of CRP (>3 mg/L).

Conclusions

Chronic periodontitis seemed to promote elevated levels of CRP. Furthermore, non-surgical periodontal treatment significantly decreased the levels of CRP only in patients with high baseline levels of such pro-inflammatory cytokine.

Clinical relevance

Periodontitis may be a potential factor to change the risk of CVD. Thus, the control of periodontal infection performed by health professionals may improve cardiovascular health.

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The use of conventional transcutaneous electrical nerve stimulation in chronic facial myalgia patients

Abstract

Objectives

The aim of this study was to evaluate the efficacy of conventional TENS in women affected by chronic facial myalgia.

Materials and methods

The study was performed on 49 women affected by chronic facial myalgia randomly allocated in the TENS group (34 women) and the control group (15 women). The subjective level of pain was assessed by the Visual Analogue Scale indicating the mean (VAS MEAN), the maximum (VAS MAX) and the current intensity of pain (VAS NOW). The level of pain at the muscular palpation sites was assessed by the Pericranial Muscle Tenderness Score (PTS) and the Cervical Muscle Tenderness Score (CTS).

The TENS therapy lasted for 10 weeks, and data were collected at baseline, after 5, 10, 15 and 25 weeks. The differences between groups before and after treatment were compared with the Mann-Whitney and the Kolmogorov-Smirnov tests. The intra-group differences were compared with the one-way ANOVA test.

Results

The results showed that the VAS MEAN, VAS MAX, PTS and CTS were significantly reduced in the TENS group compared to the control group after 10 weeks of TENS (p < 0.05). The intra-group analysis revealed a decreasing tendency of VAS MEAN, VAS MAX, VAS NOW, PTS and CTS in the TENS group in a 25-week period (p < 0.05).

Conclusions

The study demonstrated the efficacy of conventional TENS in patients with chronic facial myalgia and the decrease in both subjective and objective pain.

Clinical relevance

Conventional TENS is a safe, non-invasive, easy-to-administer therapy for chronic facial myalgia.

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Comparison of anesthetic efficacy of 2 and 4 % articaine in inferior alveolar nerve block for tooth extraction—a double-blinded randomized clinical trial

Abstract

Objectives

The purpose of this clinical prospective, randomized, double-blind trial was to compare the anesthetic efficacy of 2 % articaine and 4 % articaine in inferior alveolar nerve block anesthesia for extraction of mandibular teeth.

Materials and methods

In 95 patients, 105 lower molar and premolar teeth were extracted after intraoral inferior alveolar nerve block. In 53 cases, 2 % articaine (group I) and, in 52 cases, 4 % articaine (group II) was administered. The primary objective was to analyze the differences of anesthetic effects between the two groups (complete/sufficient vs. insufficient/none). Furthermore, differences in pulpal anesthesia (onset and depth, examined with pulp vitality tester (min)), as well as in length of soft tissue anesthesia (min), were evaluated. Additionally, the need of a second injection, pain while injecting (numeric rating scale (NRS)), pain during treatment (NRS), pain after treatment (NRS), and other possible complications (excessive pain, bleeding events, prolonged deafness) were analyzed.

Results

Anesthesia was sufficient for dental extractions in both groups without significant differences (p = 0.201). The onset of anesthesia did not differ significantly (p = 0.297). A significantly shorter duration of soft tissue anesthesia was seen in group I (2.9 vs. 4 h; p < 0.001). There was no significant difference in the need for a second injection (p = 0.359), in injection pain (p = 0.386), as well as in pain during (p = 0.287) or after treatment (p = 0.121). In both groups, no complications were seen.

Conclusions

The local anesthetic effect of the 4 % articaine solution is not significantly better when compared to 2 % articaine.

Clinical relevance

For mandibular tooth extraction, articaine 2 % may be used as alternative as well.

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Primary wound closure after tooth extraction for prevention of medication-related osteonecrosis of the jaw in patients under denosumab

Abstract

Objectives

Some recent reports have indicated that local infection causes osteonecrosis of the jaw and described that tooth extraction may not be a direct cause of developing medication-related osteonecrosis of the jaw (MRONJ) in patients receiving antiresorptive medications. Tooth extraction and elimination of the source of infection are expected to reduce the risk of developing MRONJ. However, there is no data regarding prevention for developing osteonecrosis of the jaw in patients receiving denosumab. Therefore, the aim of this study was to investigate the outcome of tooth extractions with proper wound closure in patients receiving denosumab.

Patients and methods

Forty teeth in 19 patients treated with denosumab therapy were extracted under preoperative intravenous antibiotics. Patients who had already developed MRONJ in the extraction sites or who had a history of radiation therapy were excluded. During surgery, bone edges were smoothed and all wounds were closed using the double-layered technique.

Results

Thirty-seven extraction sites (92.5 %) in 17 out of 19 patients (89.5 %) were healed. However, three extraction sites in two patients had complications; one patient had exposed bone and developed MRONJ (stage 1) and the other developed a mucosa fistula. Additional surgical procedures were performed and all wounds were completely healed.

Conclusions

Tooth extractions in patients receiving denosumab can be performed in an appropriate manner and result in good outcomes.

Clinical relevance

This study indicated that tooth extraction with proper wound closure to avoid secondary infection may be effective for the prevention of MRONJ even in high-risk patients.

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Electrical stimulation enhances tissue reorganization during orthodontic tooth movement in rats

Abstract

Objective

This study evaluated the effects of a low-intensity electric current on tissue reorganization during experimental orthodontic tooth movement.

Materials and methods

Thirty-two animals were divided into two groups evaluated on days 3 and 7: OTM—orthodontic tooth movement and OTM + MC—orthodontic tooth movement and microcurrent application (10 μA/5 min). The samples were processed for histological, morphometric, and Western blotting analysis.

Results

Analysis of the periodontal ligament (PL) showed a significantly smaller number of granulocytes in the OTM + MC group on day 7.The number of fibroblasts was significantly higher in the OTM + MC group on days 3 and 7. The area of birefringent collagen fibers was more organized in the OTM + MC group on days 3 and 7. The number of blood vessels was significantly higher in the OTM + MC group on day 7. Microcurrent application significantly increased the number of osteoclasts in the compression region of the PL. In the OTM + MC group on day 7 of tooth movement, the expression of TGF-β1 and VEGF was significantly reduced whereas the expression of bFGF was increased in PL.

Conclusions

Electrical stimulation enhances tissue responses, reducing the number of granulocytes and increasing the number of fibroblasts, blood vessels, and osteoclasts and modulates the expression of TGF-β1, VEFG, and bFGF.

Clinical relevance

This technique is used in many areas of medicine, but poorly explored in dentistry and orthodontics. This treatment is cheap and non-invasive and can be applied by own orthodontist, and it can improve the treatment with a faster and safe tooth movement, without pain.

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Reliability of a Fluorescence-aided Identification Technique (FIT) for detecting tooth-colored restorations: an ex vivo comparative study

Abstract

Objective

The aim of the study was to compare the diagnostic predictive values of a Fluorescence-aided Identification Technique (FIT) with those of the conventional diagnostic method regarding the identification of resin composite restorations.

Materials and methods

Twenty examiners, 10 students, and 10 dentists were asked to identify composite restorations in a full-mouth model using both the FIT (405-nm light source) and the conventional method in combination with a common diagnostic light source. Each dental examination was repeated three times to calculate inter-/intra-operator agreement, repeatability, and reproducibility using kappa statistics. Predictive values were calculated using a filling prevalence of 42 % and the sensitivity and specificity of each method. Pearson's test and the 99 % confidence interval (CI) were used for comparison.

Results

The sensitivity (97 %, CI 94–99 %) and specificity (100 %, CI 98–100 %) of the FIT were significantly higher than those of the conventional method (27 %, CI 21–31 %, and 65 %, CI 58–72 %, respectively). Consequently, the positive (100 %) and negative (98 %) predictive values of the FIT were significantly higher than those of the conventional method (35 and 55 %, respectively). As expressed by the kappa statistics, the repeatability (0.96) and reproducibility (0.95) of the FIT were significantly better than those of the conventional method (0.49, CI 0.42–0.56, and 0.34, CI 0.26–0.43, respectively).

Conclusion

Compared to the conventional technique, the FIT was significantly more reliable as shown by higher sensitivity, specificity, repeatability, and reproducibility values.

Clinical relevance

The FIT should be considered as a reliable and practicable alternative in contrast to the conventional method, which was hardly sufficient as a diagnostic procedure.

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Evaluation of genetic factors involved in nocturnal electromyographic activity of masticatory muscles in twins

Abstract

Objectives

The objectives of this study were to assess sleep bruxism events by directly recording electromyographic activity during sleep and to reveal the relative importance of genetic and environmental factors involved in sleep bruxism in twins.

Material and methods

The subjects consisted of 108 twins (mean age 22.2 ± 6.4 years). Electromyographic activity of temporalis muscles during sleep was evaluated using a portable automatic sleep bruxism analyzer (Grindcare 3.0, Medotech A/S), and recordings were carried out for at least three consecutive nights. Quantitative genetic statistics based on structural equation modeling was utilized to estimate variance components.

Results

Monozygotic twin-pair correlation for the number of nocturnal electromyographic activities recorded in this study (r = 0.463, P = 0.009) was higher than dizygotic twin-pair correlation (r = 0.103, P = 0.725). The proportion of total phenotypic variance in the liability of sleep bruxism to attribute to genetic influences, related to the electromyographic activities, was 48 % (95 % CI 17–95 %) and to unique environmental influences was 52 % (95 % CI 28–82 %).

Conclusions

Additive genetic effects may be a contributing factor to the occurrence of nocturnal EMG activity associated with sleep bruxism.

Clinical relevance

A greater understanding of the contribution of genetic factors could have beneficial uses, including enhanced accuracy of sleep bruxism diagnosis, management of sleep bruxism, and enhanced estimation of the prognosis for patients suffering from sleep bruxism. In addition, it could be also important to adequately evaluate the environmental factors in patients with sleep bruxism.

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The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus

Publication date: Available online 31 December 2016
Source:Clinical Immunology
Author(s): Robert J. Ragotte, Anita Dhanrajani, Julian Pleydell-Pearce, Kate L. Del Bel, Maja Tarailo-Graovac, Clara van Karnebeek, Jefferson Terry, Christof Senger, Margaret L. McKinnon, Michael Seear, Julie S. Prendiville, Lori B. Tucker, Kristin Houghton, David A. Cabral, Jaime Guzman, Ross E. Petty, Kelly L. Brown, Jenny Tekano, John Wu, Kimberly A. Morishita, Stuart E. Turvey
ObjectivesClinicians need to be aware of the growing list of defined monogenic etiologies of autoimmune diseases. This is particularly relevant when evaluating children, as these rare monogenic forms of autoimmunity tend to present very early in life.Methods and resultsBy harnessing the transformative power of next generation sequencing, we made the unifying diagnosis of RAS-associated autoimmune leukoproliferative disease (RALD), caused by the somatic gain-of-function p.G13C KRAS mutation, in a boy with the seemingly unrelated immune dysregulatory conditions of Rosai-Dorfman and systemic lupus erythematosis (SLE).ConclusionsThis case expands our understanding of the clinical phenotypes associated with the extremely rare condition of RALD, and emphasizes the importance of always considering the possibility of a monogenic cause for autoimmunity, particularly when the disease manifestations begin early in life and do not follow a typical clinical course.



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