Search results for: anterior maxillary distraction

Authors: Camille Alexis-Garsee, Nicola Payne

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One consequence of the pandemic has been the debilitating health impact that some people experience over a longer period of time, known as long-COVID. This has been predominately researched in adults; however, there is emerging evidence on the effects of long-COVID in children. Research has indicated over half of children who contracted COVID-19 experienced persistent symptoms four months after a confirmed diagnosis. There is little research on the impact of this on children and their families. This study aimed to explore the experiences of children with long-COVID, to enable further understanding of the impacts and needs within this group. Semi-structured interviews, facilitated by children’s drawings, were conducted with 15 children (aged 9-16, 9 females). Inductive thematic analysis was used to analyze the data. The findings tell a story of loss, change and of resilience. Many children were unable to engage in normal daily activities and were unable to attend school, however, all employed self-management techniques to cope with symptoms and were positive for the future. Four main themes were identified: (1) Education challenges: although some schools tried to accommodate the child’s new limitations with provision of flexi-attendance, online classes and a reduced timetable, children struggled to keep up with their schoolwork and needed more support; (2) Disrupted relationships: children felt socially isolated; they were forced to give up co and extra-curricular activities, were no longer in contact with friendship groups and missed out on key experiences with friends and family; (3) Diverse health-related challenges: children’s symptoms affected daily functioning but were also triggers for changes in thoughts and mood; (4) Coping and resilience: children actively engaged in symptom management and were able to ‘self-pace’ and/or employ distraction activities to cope. They were also focused on living a ‘normal’ life and looked to the future with great positivity. A key challenge of the long-term effects of COVID is recognizing and treating the illness in children and the subsequent impact on multiple aspects of their lives. Even though children described feeling disconnected in many ways, their life goals were still important. A multi-faceted approach is needed for management of this illness, with a focus on helping these children successfully reintegrate into society and achieve their dreams.

Keywords: children’s illness experience, COVID-19, long-COVID in children, long-COVID kids, qualitative research

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Authors: Ana Ferreira, Ines Costa, Patricia Polónia, Josué Pereira, Olinda Faria, Pedro Alberto Silva

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Introduction: Optical coherence tomography (OCT) and visual field tools are pivotal in evaluating neurological deficits and predicting potential visual improvement following surgical decompression in neurosurgical patients. Despite their clinical significance, a comprehensive understanding of their utility in this context is lacking in the literature. This study aims to elucidate the applications of OCT and visual field assessment, delineating distinct patterns of visual deficit presentations within the studied cohort. Methods: This retrospective analysis considered all adult patients who underwent a single surgery for pituitary adenoma or anterior skull base meningioma with optic nerve involvement, coupled with neuro-ophthalmology evaluation, between July 2020 and January 2023. A minimum follow-up period of 6 months was deemed essential. Results: A total of 24 patients, with a median age of 61, were included in the analysis. Three primary patterns emerged: 1) Low visual field involvement with compromised OCT, 2) High visual field involvement with relatively unaffected OCT, and 3) Significant compromise observed in both OCT and visual fields. Conclusion: This study delineates various findings in OCT and visual field assessments with illustrative examples. Based on the current findings, a prospective cohort will be systematically collected to further investigate and validate these patterns and their prognostic significance, enhancing our understanding of the utility of OCT and visual fields in neurosurgical patients.

Keywords: OCT, neurosurgery, visual field, optic nerve

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Authors: Norazlin Mohamad, Saiful Adli Bukry, Zarina Zahari, Haidzir Manaf, Hanafi Sawalludin

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Background: Deficit in neuromuscular recruitment and decrease force distribution were the common problems among ankle instability patients due to altered joint kinematics that lead to recurrent ankle injuries. Rigid Tape and KT Tape had widely been used as therapeutic and performance enhancement tools in ankle stability. However the difference effect between this two tapes is still controversial. Objective: To investigate the different effect between Rigid Tape and KT Tape on force distribution and muscle activation among ankle instability patients while standing. Study design: Crossover trial. Participants: 27 patients, age between 18 to 30 years old participated in this study. All the subjects were applied with KT Tape & Rigid Tape on their affected ankle with 3 days of interval for each intervention. The subjects were tested with their barefoot (without tape) first to act as a baseline before proceeding with KT Tape, and then with Rigid Tape. Result: There were no significant difference on force distribution at forefoot and back-foot for both tapes while standing. However the mean data shows that Rigid Tape has the highest force distribution at back-foot rather than forefoot when compared with KT Tape that had more force distribution at forefoot while standing. Regarding muscle activation (Peroneus Longus), results showed significant difference between Rigid Tape and KT Tape (p= 0.048). However, there was no significant difference on Tibialis Anterior muscle activation between both tapes while standing. Conclusion: The results indicated that Peroneus longus muscle was more active when applied Rigid Tape rather than KT Tape in ankle instability patients while standing.

Keywords: ankle instability, kinematic, muscle activation, force distribution, Rigid Tape, KT tape

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Authors: Chengcao Sun, Cuili Yang, Shujun Li, Ruilin Xue, Yongyong Xi, Liang Wang, Dejia Li

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Backgrounds: A few lines of evidence show that Sulforaphane (SFN) has anti-fibrosis effect in liver tissue via Nrf2-mediated inhibition of TGF-β/Smad signaling. However, its effects on muscular dystrophic fibrosis remain unknown. This work was undertaken to evaluate the effects of SFN on fibrosis in dystrophic muscle. Methods: 3-month-old male mdx mice were treated with SFN by gavage (2 mg/kg body weight per day) for 3 months. Gastrocnemius, tibial anterior and triceps brachii muscles were collected for related analysis. Fibrosis in skeletal muscles was analyzed by Sirius red staining. Histology and morphology of skeletal muscles were investigated by H&E staining. Moreover, the expressions of Nrf2, NQO1, HO-1, and TGF-β/Smad signaling pathway were detected by western blot, qRT-PCR, immunohistochemistry and immunofluorescence assays. Results: Our results demonstrated that SFN treatment significantly decreased and improved morphological features in mdx muscles. Moreover, SFN increased the expression of muscle phase II enzymes NQO1 and HO-1 and significantly decreased the expression of TGF-β1，p-smad2, p-smad3, α-SMA, fibronectin, collagen I, PAI-1, and TIMP-1 in Nrf2 dependent manner. Additionally, SFN significantly decreased the expression of CD45 and TNF-α. Conclusions: Collectively, these results show that SFN can ameliorate muscle fibrosis in mdx mice by Nrf2-induced inhibition of TGF-β/Smad signaling pathway, which indicate Nrf2 may be useful for the treatment of muscular dystrophy.

Keywords: sulforaphane, Nrf2, TGF-β/smad signaling, duchenne muscular dystrophy, fibrosis

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Authors: Salahud Din, Saima Masood, Hafsa Zaneb, Habib Ur Rehman, Saima Ashraf, Imad Khan, Muqader Shah

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The objective of this study was (1) to study gross morphological, osteometric and clinical important landmarks in the skull of adult Chinkara to obtain baseline data and (2) to study sexual dimorphism in male and female adult Chinkara through osteometry. For this purpose, after performing postmortem examination, the carcass of adult Chinkara of known sex and age was buried in the locality of the Manglot Wildlife Park and Ungulate Breeding Centre, Nizampur, Pakistan; after a specific period of time, the bones were unearthed. Gross morphological features and various osteometric parameters of the skull were studied in the University of Veterinary and Animal Sciences, Lahore, Pakistan. The shape of the Chinkara skull was elongated and had thirty-two bones. The skull was comprised of the cranial and the facial part. The facial region of the skull was formed by maxilla, incisive, palatine, vomar, pterygoid, frontal, parietal, nasal, incisive, turbinates, mandible and hyoid apparatus. The bony region of the cranium of Chinkara was comprised of occipital, ethmoid, sphenoid, interparietal, parietal, temporal, and frontal bone. The foramina identified in the facial region of the skull of Chinkara were infraorbital, supraorbital foramen, lacrimal, sphenopalatine, maxillary and caudal palatine foramina. The foramina of the cranium of the skull of the Chinkara were the internal acoustic meatus, external acoustic meatus, hypoglossal canal, transverse canal, sphenorbital fissure, carotid canal, foramen magnum, stylomastoid foramen, foramen rotundum, foramen ovale and jugular foramen, and the rostral and the caudal foramina that formed the pterygoid canal. The measured craniometric parameters did not show statistically significant differences (p > 0.05) between male and female adult Chinkara except Palatine bone, OI, DO, IOCDE, OCT, ICW, IPCW, and PCPL were significantly higher (p > 0.05) in male than female Chinkara and mean values of the mandibular parameters except b and h were significantly (p < 0.5) higher in male Chinkara than female Chinkara. Sexual dimorphism exists in some of the orbital and foramen magnum parameters, while high levels of sexual dimorphism identified in mandible. In conclusion, morphocraniometric studies of Chinkara skull made it possible to identify species-specific skull and use clinical measurements during practical application.

Keywords: Chinkara, skull, morphology, morphometrics, sexual dimorphism

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Authors: Min Jee Lee, Young Sun Park, Shin Ahn, Chang Hwan Sohn, Dong Woo Seo, Jae Ho Lee, Yoon Seon Lee, Kyung Soo Lim, Won Young Kim

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Background: Acute myocardial infarction (AMI) concomitant with acute aortic syndrome (AAS) is rare but prompt recognition of concomitant AAS is crucial, especially in patients with ST-segment elevation myocardial infarction (STEMI) because misdiagnosis with early thrombolytic or anticoagulant treatment may result in catastrophic consequences. Objectives: This study investigated the clinical features of patients of STEMI concomitant with AAS that may lead to the diagnostic clue. Method: Between 1 January 2010 and 31 December 2014, 22 patients who were the initial diagnosis of acute coronary syndrome (AMI and unstable angina) and AAS (aortic dissection, intramural hematoma and ruptured thoracic aneurysm) in our emergency department were reviewed. Among these, we excluded 10 patients who were transferred from other hospital and 4 patients with non-STEMI, leaving a total of 8 patients of STEMI concomitant with AAS for analysis. Result: The mean age of study patients was 57.5±16.31 years and five patients were Standford type A and three patients were type B aortic dissection. Six patients had ST-segment elevation in anterior leads and two patients had in inferior leads. Most of the patients had acute onset, severe chest pain but no patients had dissecting nature chest pain. Serum troponin I was elevated in three patients but all patients had D-dimer elevation. Aortic regurgitation or regional wall motion abnormality was founded in four patients. However, widened mediastinum was seen in all study patients. Conclusion: When patients with STEMI have elevated D-dimer and widened mediastinum, concomitant AAS may have to be suspected.

Keywords: aortic dissection, myocardial infarction, ST-segment, d-dimer

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Authors: B. Kenny, M. Dixon, A. Boshell

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The use of alcoholic surgical prep was recently introduced into the Royal Newcastle Center for elective procedures. In the past 3 months there have been a significant number of burns believed to be related to ‘pooling’ of this surgical prep in patients undergoing procedures where they are placed in the lateral position with hip bolsters. The aim of the audit was to determine the reason for the burns, analyze what pre-existing factors may contribute to the development of the burns and what can be changed to prevent further burns occurring. All patients undergoing a procedure performed on the hip who were placed in the lateral position with sacral and anterior, superior iliac spine (ASIS) support with ‘bolsters’ were included in the audit. Patients who developed a ‘burn’ were recorded, details of the surgery, demographics, surgical prep used and length of surgery were obtained as well as photographs taken to document the burn. Measures were then taken to prevent further burns and the efficacy was documented. Overall 14 patients developed burns over the ipsilateral ASIS. Of these, 13 were Total Hip Arthroplasty (THA) and 1 was a removal of femoral nail. All patients had Chlorhexidine 0.5% in Alcohol 70% Tinted Red surgical preparation or Betadine Alcoholic Skin Prep (70% etoh). Patients were set up in the standard lateral decubitus position with sacral and bilateral ASIS bolsters with a valband covering. 86% of patients were found to have pre-existing hypersensitivities to various substances. There is very little literature besides a few case reports on surgical prep-related burns. The case reports that do exist are related to the use of tourniquet-related burns and there is no mention in the literature examining ‘bolster’ related burns. The burns are hypothesized to be caused by pooling of the alcoholic solution which is amplified by the use of Valband.

Keywords: arthroplasty, chemical burns, wounds, rehabilitation

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Authors: Radwa E. Sweif, Amira A. A. Abdallah

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Background: Evaluation of gait efficiency is used to examine energy consumption especially in patients with movement disorders. Hypothesis/Purpose: This study compared the physiological and mechanical measures of gait efficiency between patients with ACL reconstruction (ACLR) and healthy controls and correlated among these measures. Methods: Seventeen patients with ACLR and sixteen healthy controls with mean ± SD age 23.06±4.76 vs 24.85±6.47 years, height 173.93±6.54 vs 175.64±7.37cm, and weight 74.25±12.1 vs 76.52±10.14 kg, respectively, participated in the study. The patients were operated on six months prior to testing. They should have completed their accelerated rehabilitation program during this period. A 3D motion analysis system was used for collecting the mechanical measures (Biomechanical Efficiency Quotient (BEQ), the maximum degree of knee internal rotation during stance phase and speed of walking). The physiological measures (Physiological Cost Index (PCI) and Rate of Perceived Exertion (RPE)) were collected after performing the 6- minute walking test. Results: MANOVA showed that the maximum degree of knee internal rotation, PCI, and RPE increased and the speed decreased significantly (p<0.05) in the patients compared with the controls with no significant difference for the BEQ. Finally, there were significant (p<0.05) positive correlations between each of the PCI & RPE and each of the BEQ, speed of walking and the maximum degree of knee internal rotation in each group. Conclusion: It was concluded that there are alterations in both mechanical and physiological measures of gait efficiency in patients with ACLR after being rehabilitated, clarifying the need for performing additional endurance as well as knee stability training programs. Moreover, the positive correlations indicate that using either of the mechanical or physiological measures for evaluating gait efficiency is acceptable.

Keywords: ACL reconstruction, mechanical, physiological, gait efficiency

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Authors: Manikandan S. P., Sharmila N.

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Pain in the neck, intermediate and anterior, and even low back may occur in one or more locations. Numerous factors can lead to back discomfort, which can manifest into sensations in the other parts of your body. Up to 80% of people will have low back problems at a certain stage of their lives, making spine-related pain a highly prevalent ailment. Roughly twice as commonly as neck pain, low back discomfort also happens about as often as knee pain. According to current studies, using digital devices for extended periods of time and poor sitting posture are the main causes of neck and low back pain. There are numerous monitoring techniques provided to enhance the sitting posture for the aforementioned problems. A sophisticated technique to monitor the extended sitting position is suggested in this research based on this problem. The system is made up of an inertial measurement unit, a T-shirt, an Arduino board, a buzzer, and a mobile app with cloud services. Based on the anatomical position of the spinal cord, the inertial measurement unit was positioned on the inner back side of the T-shirt. The IMU (inertial measurement unit) sensor will evaluate the hip position, imbalanced shoulder, and bending angle. Based on the output provided by the IMU, the data will be analyzed by Arduino, supplied through the cloud, and shared with a mobile app for continuous monitoring. The buzzer will sound if the measured data is mismatched with the human body's natural position. The implementation and data prediction with design to identify balanced and unbalanced posture using a posture monitoring t-shirt will be further discussed in this research article.

Keywords: IMU, posture, IOT, textile

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Authors: Hanna Schübel, Ivo Wallimann-Helmer

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In order to reach the goal of the Paris Agreement to not overshoot 1.5°C of warming above pre-industrial levels, various countries including the UK and Switzerland have committed themselves to net zero emissions by 2050. The employment of negative emission technologies (NETs) is very likely going to be necessary for meeting these national objectives as well as other internationally agreed climate targets. NETs are methods of removing carbon from the atmosphere and are thus a means for addressing climate change. They range from afforestation to technological measures such as direct air capture and carbon storage (DACCS), where CO2 is captured from the air and stored underground. As all so-called geoengineering technologies, the development and deployment of NETs are often subject to moral hazard arguments. As these technologies could be perceived as an alternative to mitigation efforts, so the argument goes, they are potentially a dangerous distraction from the main target of mitigating emissions. We think that this is a dangerous argument to make as it may hinder the development of NETs which are an essential element of net zero emission targets. In this paper we argue that the moral hazard argument is only problematic if we do not reflect upon which levels of emissions are at stake in order to meet net zero emissions. In response to the moral hazard argument we develop an account of which levels of emissions in given societies should be mitigated and not be the target of NETs and which levels of emissions can legitimately be a target of NETs. For this purpose, we define four different levels of emissions: the current level of individual emissions, the level individuals emit in order to appear in public without shame, the level of a fair share of individual emissions in the global budget, and finally the baseline of net zero emissions. At each level of emissions there are different subjects to be assigned responsibilities if societies and/or individuals are committed to the target of net zero emissions. We argue that all emissions within one’s fair share do not demand individual mitigation efforts. The same holds with regard to individuals and the baseline level of emissions necessary to appear in public in their societies without shame. Individuals are only under duty to reduce their emissions if they exceed this baseline level. This is different for whole societies. Societies demanding more emissions to appear in public without shame than the individual fair share are under duty to foster emission reductions and are not legitimate to reduce by introducing NETs. NETs are legitimate for reducing emissions only below the level of fair shares and for reaching net zero emissions. Since access to NETs to achieve net zero emissions demands technology not affordable to individuals there are also no full individual responsibilities to achieve net zero emissions. This is mainly a responsibility of societies as a whole.

Keywords: climate change, mitigation, moral hazard, negative emission technologies, responsibility

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Authors: Mohammad Naeem Lakanwall

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Background:The thyroid gland, located just below the vocal cord on each side of and anterior to the trachea, is one of the main endocrine glands. Its normal weight is 15 to 20 grams in adults. The thyroid secretes two most important hormones, thyroxine and triiodothyronine, usually called T4 and T3, respectively. These hormones greatly increase the metabolic rate of the body. In addition to T3 and T4, the thyroid gland secrets calcitonin as well which is a significant hormone for calcium metabolism. Objective: The aim of this study is to estimate the proportion of and to identify factors associated with thyroid dysfunction among individuals coming to a tertiary care facility in Kabul, Afghanistan. Material and Methods: An analytical cross-sectional study design was conducted from July to Sep 2018. Blood samples were obtained, serum TSH levels were measured, and the patients were divided into three diagnostic categories according to their serum TSH concentrations. 1) Hypothyroidism 2) Hyperthyroidism 3) Normal thyroid Results: A total of 127 individuals were part of the sample for the final analysis. The majority of study participants (77%) were females. A large number of the participants (92%) did not have a family history of thyroid dysfunction and the majority of the female participants, (85%) were not pregnant in the last two years. Furthermore, 98% of participants, were non-smokers. Conclusion: The findings of the current study showed a high prevalence of thyroid dysfunctions in individuals coming to FMIC for thyroid functions tests. The findings also indicated that aging and smoking are the factors associated with thyroid dysfunctions. Further studies are needed to find out the prevalence of and factors associated with thyroid dysfunctions.

Keywords: Afghanistan, Kabul, hypothyroidism, hyperthyroidism, triiodothyronine, thyroxine

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Authors: Noor Ismael, Somaya Malkawi, Sherin Al Awady, Taleb Ismael

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Background/Significance: Cancer is a serious health condition that affects individuals’ quality of life during and after the course of this condition. Children who have survived cancer and their caregivers may deal with residual physical, cognitive or social disabilities. There is little research on caregivers’ health and wellbeing after cancer. To the authors’ best knowledge; there is no specific research about how caregivers cope with everyday stressors after cancer. Therefore, this study aimed to explore the coping strategies that caregivers of children who have survived cancer utilize to overcome everyday stressors. Methods: This study utilized a descriptive survey design. The sample consisted of 103 caregivers, who visited the health and wellness clinic at a national cancer center (additional demographics are presented in the results). The sample included caregivers of children who were off cancer treatments for at least two years from the beginning of data collection. The institution’s internal review board approved this study. Caregivers who agreed to participate completed the survey. The survey collected caregiver reported demographic information and the Brief COPE which measures caregivers' frequency of engaging in certain coping strategies. The Brief COPE consisted of 14 coping sub-scales, which are self-distraction, active coping, denial, substance use, use of emotional support, use of instrumental support, behavioral disengagement, venting, positive reframing, planning, humor, acceptance, religion, and self-blame. Data analyses included calculating sub-scales’ scores for the fourteen coping strategies and analysis of frequencies of demographics and coping strategies. Results: The 103 caregivers who participated in this study were 62% mothers, 80% married, 45% finished high school, 50% do not work outside the house, and 60% have low family income. Result showed that religious coping (66%) and acceptance (60%) were the most utilized coping strategies, followed by positive reframing (45%), active coping (44%) and planning (43%). The least utilized coping strategies in our sample were humor (5%), behavioral disengagement (8%), and substance-use (10%). Conclusions: Caregivers of children who have survived cancer mostly utilize religious coping and acceptance in dealing with everyday stressors. Because these coping strategies do not directly solve stressors like active coping and planning coping strategies, it is important to support caregivers in choosing and implementing effective coping strategies. Knowing from our results that some caregivers may utilize substance use as a coping strategy, which has negative health effects on caregivers and their children, there must be direct interventions that target these caregivers and their families.

Keywords: caregivers, cancer, stress, coping

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Authors: Yasuyuki Takahashi, Hirotaka Shimada, Takao Kanzaki

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A Dual-detector SPECT system is widely by use of myocardial SPECT studies. With 180-degree (180°) acquisition, reconstructed images are distorted in the posterior wall of myocardium due to the lack of sufficient data of posterior projection. We hypothesized that quality of myocardial SPECT images can be improved by the addition of data acquisition of only a few posterior projections to ordinary 180° acquisition. The proposed acquisition method (180° plus acquisition methods) uses the dual-detector SPECT system with a pair of detector arranged in 90° perpendicular. Sampling angle was 5°, and the acquisition range was 180° from 45° right anterior oblique to 45° left posterior oblique. After the acquisition of 180°, the detector moved to additional acquisition position of reverse side once for 2 projections, twice for 4 projections, or 3 times for 6 projections. Since these acquisition methods cannot be done in the present system, actual data acquisition was done by 360° with a sampling angle of 5°, and projection data corresponding to above acquisition position were extracted for reconstruction. We underwent the phantom studies and a clinical study. SPECT images were compared by profile curve analysis and also quantitatively by contrast ratio. The distortion was improved by 180° plus method. Profile curve analysis showed increased of cardiac cavity. Analysis with contrast ratio revealed that SPECT images of the phantoms and the clinical study were improved from 180° acquisition by the present methods. The difference in the contrast was not clearly recognized between 180° plus 2 projections, 180° plus 4 projections, and 180° plus 6 projections. 180° plus 2 projections method may be feasible for myocardial SPECT because distortion of the image and the contrast were improved.

Keywords: 180° plus acquisition method, a few posterior projections, dual-detector SPECT system, myocardial SPECT

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Authors: Mehdi Razeghi

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Background: The purpose of this case series was to quantify gait to study muscular dystrophy disease. In this research, the quantitative differences between normal and waddling gaits were assessed by force plate analysis. Methods: Nineteen myopathy patients and twenty normal subjects serving as the control group participated in this research. In this study, quantitative analyses of gait have been used to investigate the differences between the mobility of normal subjects and myopathy patients. This study was carried out at the Iranian Muscular Dystrophy Association in Boali Hospital, Tehran, Iran, from October 2015 to July 2020. Patient data were collected from Iranian Muscular Dystrophy Association members. individuals signed an informed consent form approved by the ethics committee of the Azad University. All of the gait tests were performed using a Kistler force platform. Participants walked at a self-selected speed, barefoot, independently, and without assistive devices. Results: Our findings indicate that there were no significant differences between the patients and the control group in the anterior-posterior components of the ground reaction forces; however, there were considerable differences in the force components between the groups in the medial-lateral and vertical directions of the ground reaction force. In addition, there were significant differences in the time parameters between the groups in the vertical and medial-lateral directions.

Keywords: biomechanics, force plate analysis, gait disorder, ground reaction force, kinetic analysis, myopathy disease, rehabilitation engineering

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Authors: Allyne Topaz

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Intraoral dehiscence compromises free fibula flaps following mandibular reconstruction. Salivary contamination risks thrombosis of microvascular anastomosis and hardware infection. The superficial temporal artery islandized flap (STAIF) offers an efficient, non-microsurgical reconstructive option for regaining intraoral competency for a time sensitive complication. Methods: The STAIF flap is based on the superficial temporal artery coursing along the anterior hairline. The flap is mapped with assistance of the doppler probe. The width of the skin paddle is taken based on the ability to close the donor site. The flap is taken down to the level of the zygomatic arch and tunneled into the mouth. Results: We present a case of a patient who underwent mandibular reconstruction with a free fibula flap after a traumatic shotgun wound. The patient developed repeated intraoral dehiscence following failed local buccal and floor of mouth flaps leading to salivary contamination of the flap and hardware. The intraoral dehiscence was successfully salvaged on the third attempt with a STAIF flap. Conclusions: Intraoral dehiscence creates a complication requiring urgent attention to prevent loss of free fibula flap after mandibular reconstruction. The STAIF is a non-microsurgical option for restoring intraoral competency. This robust, axially vascularized skin paddle may be split for intra- and extra-oral coverage, as needed and can be an important tool in the reconstructive armamentarium.

Keywords: free fibula flap, intraoral dehiscence, mandibular reconstruction, superficial temporal artery islandized flap

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Authors: Anna Ghosh, Dominic Shields, Ceri McIntosh, Stephen Crank

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A 29-year-old male was a referral to the maxillofacial unit following a referral from his general dental practitioner via a routine pathway regarding a large periapical lesion on the LR4 with root resorption. The patient was asymptomatic, the LR4 vital and unrestored, and this was an incidental finding at a routine check-up. The patient's past medical history was unremarkable. Examination revealed no extra or intra-oral pathology and non-mobile teeth. No focal neurology was detected. An orthopantogram demonstrated a well-defined unilocular corticated radiolucency associated with the LR4. The root appeared shortened with the radiolucency between the root and a radio-opacity, possibly representing the displacement of the apical tip of the tooth. It was recommended that the referring general practitioner should proceed with orthograde root canal therapy, after which time exploration, enucleation, and retrograde root filling of the LR4 would be carried out by a maxillofacial unit. The patient was reviewed six months later where, due to the COVID-19 pandemic, the patient had been unable to access general dental services for the root canal treatment. He was still entirely asymptomatic. A one-year review was planned in the hope this would allow time for the orthograde root canal therapy to be completed. At this review, the orthograde root canal therapy had still not been completed. Interestingly, a repeat orthopantogram revealed a significant reduction in size with good bony infill and a significant reduction in the size of the lesion. Due to the ongoing delays with primary care dental therapy, the patient was subsequently internally referred to the restorative dentistry department for care. The patient was seen again by oral and maxillo-facial surgery in mid-2022 where he still reports this tooth as asymptomatic with no focal neurology. The patient's history was fully reviewed, and noted that 15 years previously, the patient underwent open reduction and internal fixation of a left angle of mandible fracture. Temporary IMF involving IMF screws and fixation wires were employed to maintain occlusion during plating and subsequently removed post-operatively. It is proposed that the radiolucency was, as a result of the IMF screw placement, penetrating the LR4 root resulting in resorption of the tooth root and development of a radiolucency. This case highlights the importance of careful screw size and physical site location, and placement of IMF screws, as there can be permeant damage to a patient’s dentition.

Keywords: facial trauma, inter-maxillary fixation, mandibular radiolucency, oral and maxillo-facial surgery

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Authors: Alexander N. Savostyanov, Tatiana A. Dolgorukova, Elena A. Esipenko, Mikhail S. Zaleshin, Margherita Malanchini, Anna V. Budakova, Alexander E. Saprygin, Tatiana A. Golovko, Yulia V. Kovas

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EEG correlates of mathematical and trait anxiety level were studied in 52 healthy Russian-speakers during execution of error-recognition tasks with lexical, arithmetic and algebraic conditions. Event-related spectral perturbations were used as a measure of brain activity. The ERSP plots revealed alpha/beta desynchronizations within a 500-3000 ms interval after task onset and slow-wave synchronization within an interval of 150-350 ms. Amplitudes of these intervals reflected the accuracy of error recognition, and were differently associated with the three conditions. The correlates of anxiety were found in theta (4-8 Hz) and beta2 (16-20 Hz) frequency bands. In theta band the effects of mathematical anxiety were stronger expressed in lexical, than in arithmetic and algebraic condition. The mathematical anxiety effects in theta band were associated with differences between anterior and posterior cortical areas, whereas the effects of trait anxiety were associated with inter-hemispherical differences. In beta1 and beta2 bands effects of trait and mathematical anxiety were directed oppositely. The trait anxiety was associated with increase of amplitude of desynchronization, whereas the mathematical anxiety was associated with decrease of this amplitude. The effect of mathematical anxiety in beta2 band was insignificant for lexical condition but was the strongest in algebraic condition. EEG correlates of anxiety in theta band could be interpreted as indexes of task emotionality, whereas the reaction in beta2 band is related to tension of intellectual resources.

Keywords: EEG, brain activity, lexical and numerical error-recognition tasks, mathematical and trait anxiety

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Authors: Fedili Benamar, Beloulou Mohamed Lamine, Ouahes Hassane, Ghattas Samir

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 Background and aims: Peripheral regional anesthesia has been integrated into most analgesia protocols for total knee arthroplasty which considered among the most painful surgeries with a huge potential for chronicization. The adductor canal block (ACB) has gained popularity. Similarly, the IPACK block has been described to provide analgesia of the posterior knee capsule. This study aimed to evaluate the analgesic efficacy of this block in patients undergoing primary PTG. Methods: 90 patients were randomized to receive either an IPACK, an anterior sciatic block, or a sham block (30 patients in each group + multimodal analgesia and a catheter in the KCA adductor canal). GROUP 1 KCA GROUP 2 KCA+BSA GROUP 3 KCA+IPACK The analgesic blocks were done under echo-guidance preoperatively respecting the safety rules, the dose administered was 20 cc of ropivacaine 0.25% was used. We were to assess posterior knee pain 6 hours after surgery. Other endpoints included quality of recovery after surgery, pain scores, opioid requirements (PCA morphine)(EPI info 7.2 analysis). Results: -groups were matched -A predominance of women (4F/1H). -average age: 68 +/-7 years -the average BMI =31.75 kg/m2 +/- 4. -70% of patients ASA2 ,20% ASA3. -The average duration of the intervention: 89 +/- 19 minutes. -Morphine consumption (PCA) significantly higher in group 1 (16mg) & group 2 (8mg) group 3 (4mg) - The groups were matched . -There was a correlation between the use of the ipack block and postoperative pain Conclusions :In a multimodal analgesic protocol, the addition of IPACK block decreased pain scores and morphine consumption ,

Keywords: regional anesthesia, analgesia, total knee arthroplasty, the adductor canal block (acb), the ipack block, pain

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Authors: L. C. Prasanna, Antony Sylvan D’Souza, Kumar M. R. Bhat

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Although life as a conjoined twin would seem intolerable, there has recently been an increased interest in this subject because of the increasing number of cases where attempts have been made to separate them surgically. We have reviewed articles on cardiovascular anomalies in conjoined twins and presenting rarest anomaly in dicephalus parapagus fetus having two heads attached to one body from the neck or upper chest downwards, with a pair of limbs and a set of reproductive organs. Both the twins shared a common thoracic cavity with a single sternum. When the thoracic cavity was opened, a common anterior mediastinum was found. On opening the pericardium, two separate, closely apposed hearts were exposed. The two cardia are placed side by side. The left heart was slightly larger than the right and were joined at the atrial levels. Four atrial appendages were present, two for each twin. The atrial complex was a common chamber posterior to the ventricles. A single large tributary which could be taken as inferior vena cava drains into the common atrial chamber. In this case, the heart could not be assigned to either twin and therefore, it is referred to as the shared heart within a common pericardial sac. The right and left descending thoracic aorta have joined with each other just above the diaphragm to form a common descending thoracic aorta which has an opening in the diaphragm to be continued as common abdominal aorta which has a normal branching pattern. Upon an interior dissection, it is observed that the two atria have a wide communication which could be a wide patent foramen ovale and this common atrial cavity has a communication with a remnant of a possible common sinus venosus.

Keywords: atrium, congenital anomaly, conjoined twin, sinus venosus

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Authors: Matjaž Šraml, Marko Renčelj, Tomaž Tollazzi, Chiara Gruden

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Road safety is a worldwide issue with numerous and heterogeneous factors influencing it. On the side, driver state – comprising distraction/inattention, fatigue, drowsiness, extreme emotions, and socio-cultural factors highly affect road safety. On the other side, the vehicle state has an important role in mitigating (or not) the road risk. Finally, the road environment is still one of the main determinants of road safety, defining driving task complexity. At the same time, thanks to technological development, a lot of detailed data is easily available, creating opportunities for the detection of driver state, vehicle characteristics and road conditions and, consequently, for the design of ad hoc interventions aimed at improving driver performance, increase awareness and mitigate road risks. This is the challenge faced by the i-DREAMS project. i-DREAMS, which stands for a smart Driver and Road Environment Assessment and Monitoring System, is a 3-year project funded by the European Union’s Horizon 2020 research and innovation program. It aims to set up a platform to define, develop, test and validate a ‘Safety Tolerance Zone’ to prevent drivers from getting too close to the boundaries of unsafe operation by mitigating risks in real-time and after the trip. After the definition and development of the Safety Tolerance Zone concept and the concretization of the same in an Advanced driver-assistance system (ADAS) platform, the system was tested firstly for 2 months in a driving simulator environment in 5 different countries. After that, naturalistic driving studies started for a 10-month period (comprising a 1-month pilot study, 3-month baseline study and 6 months study implementing interventions). Currently, the project team has approved a common evaluation approach, and it is developing the assessment of the usage and outcomes of the i-DREAMS system, which is turning positive insights. The i-DREAMS consortium consists of 13 partners, 7 engineering universities and research groups, 4 industry partners and 2 partners (European Transport Safety Council - ETSC - and POLIS cities and regions for transport innovation) closely linked to transport safety stakeholders, covering 8 different countries altogether.

Keywords: advanced driver assistant systems, driving simulator, safety tolerance zone, traffic safety

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Authors: Muhsin Kizhisseri, Jorg Schluter, Saleh Gharie

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Atherosclerosis is the main reason of stroke, which is one of the deadliest diseases in the world. The carotid artery in the brain is the prominent location for atherosclerotic progression, which hinders the blood flow into the brain. The inclusion of computational fluid dynamics (CFD) into the diagnosis cycle to understand the hemodynamics of the patient-specific carotid artery can give insights into stroke prediction. Realistic outlet boundary conditions are an inevitable part of the numerical simulations, which is one of the major factors in determining the accuracy of the CFD results. The Windkessel model-based outlet boundary conditions can give more realistic characteristics of the distal vascular branches of the carotid artery, such as the resistance to the blood flow and compliance of the distal arterial walls. This study aims to find the most influential distal branches of the carotid artery by using the Windkessel model parameters in the outlet boundary conditions. The parametric study approach to Windkessel model parameters can include the geometrical features of the distal branches, such as radius and length. The incorporation of the variations of the geometrical features of the major distal branches such as the middle cerebral artery, anterior cerebral artery, and ophthalmic artery through the Windkessel model can aid in identifying the most influential distal branch in the carotid artery. The results from this study can help physicians and stroke neurologists to have a more detailed and accurate judgment of the patient's condition.

Keywords: stroke, carotid artery, computational fluid dynamics, patient-specific, Windkessel model, distal vascular branches

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Authors: Lalita Panchal, Zulfiya Sheikh

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Fluoride is essential for teeth and bones development not only for human beings but also for animals. But excess intake of fluoride causes harmful effects on health. Fluorosis is a worldwide health hazard and India is also one of the endemic countries. Udaipur district of Rajasthan is also prone to fluorosis and superphosphate industries are aggravating fluoride toxicity in this area. Grazing fields for animals in the close vicinity of the industries, fodder and water are fluoride contaminated. Fluoride toxicity in the form of dental fluorosis was observed in domestic animals, inhabiting industrial area near Udaipur, where superphosphate fertilizer plants are functioning and releasing fluoride and fumes and effluents into the surroundings. These fumes and gases directly affect the vegetation of grazing field, thus allowing entry of fluoride into the food chain. A survey was conducted in this area to assess the severity of fluorosis, in 2015-16. It was a house to house survey and animal owners were asked for their fodder and water supply. Anterior teeth of the animal were observed. Domestic animals exhibited mild to severe signs of dental fluorosis. Teeth showed deep brown staining, patches, lines and abrasions. Even immature animals were affected badly. Most of the domestic animals were affected, but goats of this area showed chronic symptoms of fluorosis. Due to abrasion of teeth and paining teeth their chewing or grazing capacity and appetite reduced. Eventually, it reduced the life span of animals and increased the mortality rate.

Keywords: domestic animals, fluoride toxicity, industrial fluorosis, superphosphate fertilizers

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Authors: Lalit Tejwani, Reetika Sharma, Arun Singhvi, Himanshu Shekhar

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Purpose: To assess the efficacy of collagen matrix implant (Ologen) in phacotrabeculectomy augmented with mitomycin C (MMC). Methods: A biodegradable collagen matrix (Ologen) was placed in the subconjunctival and subscleral space in twenty-two eyes of 22 patients with glaucoma and cataract who underwent combined phacoemulsification and trabeculectomy augmented with MMC. All of them were examined preoperatively and on the first postoperative day. They were followed for twelve months after surgery. Any intervention needed in follow-up period was noted. Any complication was recorded. The primary outcome measure was postoperative intraocular pressure at one year follow-up. Any additional postoperative treatments needed and adverse events were noted. Results: The mean age of patients included in the study was 57.77 ± 9.68 years (range=36 to 70 years). All the patients were followed for at least one year. Three patients had history of failed trabeculectomy. Fifteen patients had chronic angle closure glaucoma with cataract, five had primary open angle glaucoma with cataract, one had uveitic glaucoma with cataract, and one had juvenile open angle glaucoma with cataract. Mean preoperative IOP was 32.63 ± 8.29 mm Hg, eighteen patients were on oral antiglaucoma medicines. The mean postoperative IOP was 10.09 ± 2.65 mm Hg at three months, 10.36 ± 2.19 mm Hg at six months and 11.36 ± 2.72 mm Hg at one year follow up. No adverse effect related to Ologen was seen. Anterior chamber reformation was done in five patients, and three needed needling of bleb. Four patients needed additional antiglaucoma medications in the follow-up period. Conclusions: Combined phacotrabeculectomy with MMC with Ologen implantation appears to be a safe and effective option in glaucoma patients needing trabeculectomy with significant cataract. Comparative studies with longer duration of follow-up in larger number of patients are needed.

Keywords: combined surgery, ologen, phacotrabeculectomy, success

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Authors: Ervin Meqikukiqi

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It is difficult to assess how athletes can best modify their movements to prevent non contact ACL injuries. Speaking with an athletic trainer, physical therapist, or sports medicine specialist is a good place to start. Recent research has allowed therapists and clinicians to easily identify and target weak muscle areas (e.g., weak hips, which leads to knock-kneed landing positions) and identify ways to improve strength and thus help prevent injury. In addition, other risk factors such as reduced hamstring strength and increased joint range of motion can be further assessed by a physical therapist or athletic trainer to improve performance-or rehabilitation efforts after an injury has occurred. Current studies also demonstrate that specific types of training, such as jump routines and learning to pivot properly, help athletes prevent ACL injuries. These types of exercises and training programs are more beneficial if athletes start when they are young. It may be optimal to integrate prevention programs during early adolescence, prior to when young athletes develop certain habits that increase the risk of an ACL injury. This is a 20 minute program designed to reduce the risk of tears of the Anterior Cruciate Ligament. It should be started at least four and preferably six weeks prior to start of competition.Ideally it is done five times per week preseason and three times per week in season.The coach or trainer must constantly observe athletes during these exercises to correct and maintain proper technique. Once the athletes understand the principles, they can monitor and coach each other. Four phases: Warm-up, Strengthening, Plyometrics, Agility and Balance.

Keywords: athletes, acl, prevention, injuries, plyoemtric, proprioception, agillity

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Authors: Chengcao Sun, Cuili Yang, Shujun Li, Ruilin Xue, Yongyong Xi, Liang Wang, Dejia Li

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Backgrounds: Inflammation is widely distributed in patients with Duchenne muscular dystrophy (DMD), and ultimately leads to progressive deterioration of muscle function with the co-effects of chronic muscle damage, oxidative stress, and reduced oxidative capacity. NF-E2-related factor 2 (Nrf2) plays a critical role in defending against inflammation in different tissues via activation of phase II enzymes, heme oxygenase-1 (HO-1). However, whether Nrf2/HO-1 pathway can attenuate muscle inflammation on DMD remains unknown. The purpose of this study was to determine the anti-inflammatory effects of Sulforaphane (SFN) on DMD. Methods: 4-week-old male mdx mice were treated with SFN by gavage (2 mg/kg body weight per day) for 4 weeks. Gastrocnemius, tibial anterior and triceps brachii muscles were collected for related analysis. Immune cell infiltration in skeletal muscles was analyzed by H&E staining and immuno-histochemistry. Moreover, the expressions of inflammatory cytokines,pro-inflammatory cytokines and Nrf2/HO-1 pathway were detected by western blot, qRT-PCR, immunohistochemistry and immunofluorescence assays. Results: Our results demonstrated that SFN treatment increased the expression of muscle phase II enzymes HO-1 in Nrf2 dependent manner. Inflammation in mdx skeletal muscles was reduced by SFN treatment as indicated by decreased immune cell infiltration and lower expressions of the inflammatory cytokines CD45, pro-inflammatory cytokines tumour necrosis factor-α and interleukin-6 in the skeletal muscles of mdx mice. Conclusions: Collectively, these results show that SFN can ameliorate muscle inflammation in mdx mice by Nrf2/HO-1 pathway, which indicates Nrf2/HO-1 pathway may represent a new therapeutic target for DMD.

Keywords: sulforaphane, Nrf2, HO-1, inflammation

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Authors: Hana Aljumayi, Mohammed Issa

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The aim of this study was to investigate the effect of the training program for professional athletes at the Saudi Archery Federation on the electrical activity of the muscles involved in pulling the bowstring, maximum muscle strength (MVC) and to identify the relationship between the electrical activity of these muscles and accuracy in shooting among female archers. The researcher used a descriptive approach that was suitable for the nature of the study, and a sample of nine female archers was selected using purposive sampling. An EMG device was used to measure signal amplitude, signal frequency, spectral energy signal, and MVC. The results showed statistically significant differences in signal amplitude among muscles, with F(8,1)=5.91 and a significance level of 0.02. There were also statistically significant differences between muscles in terms of signal frequency, with F(8,1)=8.23 and a significance level of 0.02. Bonferroni test results indicated statistically significant differences between measurements at a significance level of 0.05, with anterior measurements showing an average difference of 16.4 compared to other measurements. Furthermore, there was a significant negative correlation between signal amplitude in the calf muscle and accuracy in shooting (r=-0.78) at a significance level of 0.02. There was also a significant positive correlation between signal frequency in the calf muscle and accuracy in shooting (r=0.72) at a significance level of 0.04. In conclusion, it appears that the training program for archery athletes focused more on skill development than physical aspects such as muscle activity and strength development. However, it did have a statistically significant effect on signal amplitude but not on signal frequency or MVC development in muscles involved in pulling the bowstring.

Keywords: electrical activity of muscles, archery sport, shooting accuracy, muscles

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Authors: Syed Dawood M. Taimur

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Background: Peripheral arterial disease (PAD) is under diagnosed in primary care practices, yet the extent of unrecognized PAD in patients with coronary artery disease (CAD) is unknown. Objective: To assess the prevalence of previously unrecognized PAD in patients undergoing coronary angiogram and to determine the relationship between the presence of PAD and severity of CAD. Material & Methods: This five years retrospective study was conducted at an invasive lab of the department of Cardiology, Ibrahim Cardiac Hospital & Research Institute from January 2010 to December 2014. Total 77 patients were included in this study. Study variables were age, sex, risk factors like hypertension, diabetes mellitus, dyslipidaemia, smoking habit and positive family history for ischemic heart disease, coronary artery and peripheral artery profile. Results: Mean age was 56.83±13.64 years, Male mean age was 53.98±15.08 years and female mean age was 54.5±1.73years. Hypertension was detected in 55.8%, diabetes in 87%, dyslipidaemia in 81.8%, smoking habits in 79.2% and 58.4% had a positive family history. After catheterization 88.3% had peripheral arterial disease and 71.4% had coronary artery disease. Out of 77 patients, 52 had both coronary and peripheral arterial disease which was statistically significant (p < .014). Coronary angiogram revealed 28.6% (22) patients had triple vessel disease, 23.3% (18) had single vessel disease, 19.5% (15) had double vessel disease and 28.6% (22) were normal coronary arteries. The peripheral angiogram revealed 54.5% had superficial femoral artery disease, 26% had anterior tibial artery disease, 27.3% had posterior tibial artery disease, 20.8% had common iliac artery disease, 15.6% had common femoral artery disease and 2.6% had renal artery disease. Conclusion: There is a strong and definite correlation between coronary and peripheral arterial disease. We found that cardiovascular risk factors were in fact risk factors for both PAD and CAD.

Keywords: coronary artery disease (CAD), peripheral artery disease(PVD), risk, factors, correlation, cathetarization

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Authors: Takeshi Sato, Mizuki Nakajima, Macky Kato, Shoji Igawa

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The purpose of study was to investigate the effect of varying pole weights on energy expenditure, upper limb and lower limb muscle activity as Electromyogram during Nordic walking (NW). Four healthy men [age = 22.5 (±1.0) years, body mass = 61.4 (±3.6) kg, height = 170.3 (±4.3) cm] and three healthy women [age = 22.7 (±2.9) years, body mass = 53.0 (±1.7) kg, height = 156.7 (±4.5) cm] participated in the experiments after informed consent. Seven healthy subjects were tested on the treadmill, walking, walking (W) with Nordic Poles (NW) and walking with 1kg weight Nordic Poles (NW+1). Walking speed was 6 km per hours in all trials. Eight EMG activities were recorded by bipolar surface methods in biceps brachii, triceps brachii, trapezius, deltoideus, tibialis anterior, medial gastrocnemius, rectus femoris and biceps femoris muscles. And heart rate (HR), oxygen uptake (VO₂), and rate of perceived exertion (RPE) were measured. The level of significance was set at a = 0.05, with p < 0.05 regarded as statistically significant. Our results confirmed that use of NW poles increased HR at a given upper arm muscle activity but decreased lower limb EMGs in comparison with W. Moreover NW was able to increase more step lengths with hip joint extension during NW rather than W. Also, EMG revealed higher activation of upper limb for almost all NW and 1kgNW tests plus added masses compared to W (p < 0.05). Therefore, it was thought either of NW and 1kgNW were to have benefit as a physical exercise for safe, feasible, and readily training for a wide range of aged people in the quality of daily life. However, there was no significant effected in leg muscles activity by using 1kgNW except for upper arm muscle activity during Nordic pole walking.

Keywords: Nordic walking, electromyogram, heart rate, RPE

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Authors: Martyna Ekiert, Andrzej Mlyniec

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Tendons are the biological structures, which primary function is to transfer force generated by muscles to the bones. Unfortunately, damages of tendons are also one of the most common injuries of the human musculoskeletal system. For the most severe cases of tendon rupture, such as the tear of calcaneus tendon or anterior cruciate ligament of the knee, a surgical procedure is the only possible way of full recovery. Tendons used as biological grafts are usually subjected to the process of deep freezing and subsequent thawing. This, in particular for multiple freezing/thawing cycles, may result in changes of tendon internal structure causing deterioration of mechanical properties of the tissue. Therefore, studies on the influence of freezing on tendons biomechanics, including internal water content in soft tissue, seems to be greatly needed. An experimental study of the influence of freezing on mechanical properties of the tendon was performed on fascicles samples dissected form bovine flexor tendons. The preparation procedure was performed with the presence of 0.9% saline solution in order to prevent an excessive tissue drying. All prepared samples were subjected to the different number of freezing/thawing cycles. For freezing part of the protocol we used -80°C temperature while for slow thawing we used fridge temperature (4°C) combined with equalizing temperatures in the standard state (25°C). After final thawing, the mechanical properties of each sample was examined using cyclic loading test. Our results may contribute for better understanding of negative effects of soft tissues freezing, resulting from abnormal thermal expansion of water. This also may help to determine the limit of freezing/thawing cycles disqualifying tissue for surgical purposes and thus help optimize tissues storage conditions.

Keywords: freezing, soft tissue, tendon, bovine fascicles

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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