Search results for: Hooman Kaabi
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 22

Search results for: Hooman Kaabi

22 Design and Simulation a Low Phase Noise CMOS LC VCO for IEEE802.11a WLAN Applications

Authors: Hooman Kaabi, Raziyeh Karkoub

Abstract:

This work proposes a structure of AMOS-varactors. A 5GHz LC-VCO designed in TSMC 0.18μm CMOS to improve phase noise and tuning range performance. The tuning range is from 5.05GHZ to 5.88GHz.The phase noise is -154.9dBc/Hz at 1MHz offset from the carrier. It meets the requirements for IEEE 802.11a WLAN standard.

Keywords: CMOS LC VCO, spiral inductor, varactor, phase noise, tuning range

Procedia PDF Downloads 498
21 Towards a Business Process Model Deriving from an Intentional Perspective

Authors: Omnia Saidani Neffati, Rim Samia Kaabi, Naoufel Kraiem

Abstract:

In this paper, we propose an approach aiming at (i) representing services at two levels: the intentional level and the organizational level, and (ii) establishing mechanisms allowing to make a transition from the first level to the second one in order to execute intentional services. An example is used to validate our approach.

Keywords: intentional service, business process, BPMN, MDE, intentional service execution

Procedia PDF Downloads 355
20 A Genetic Algorithm to Schedule the Flow Shop Problem under Preventive Maintenance Activities

Authors: J. Kaabi, Y. Harrath

Abstract:

This paper studied the flow shop scheduling problem under machine availability constraints. The machines are subject to flexible preventive maintenance activities. The nonresumable scenario for the jobs was considered. That is, when a job is interrupted by an unavailability period of a machine it should be restarted from the beginning. The objective is to minimize the total tardiness time for the jobs and the advance/tardiness for the maintenance activities. To solve the problem, a genetic algorithm was developed and successfully tested and validated on many problem instances. The computational results showed that the new genetic algorithm outperforms another earlier proposed algorithm.

Keywords: flow shop scheduling, genetic algorithm, maintenance, priority rules

Procedia PDF Downloads 440
19 Water Injection in order to Enhanced Oil Recovery

Authors: Hooman Fallah, Fatemeh Karampour

Abstract:

Low salinity water (LSW) has been proved to be efficacious because of low cost and ability to change properties of reservoir rock and fluids and their interactions toward desired condition. These include change in capillary pressure, interfacial tension, wettability tendency, permeability and pore sizing. This enhanced oil recovery (EOR) method has been studied so far for evaluating capability of inducing recent mentioned parameters and the mechanisms of its operation and applicabi-lity in different fields. This study investigates the effect of three types of salts (including Ca2+, Mg2+, and SO42-) on wettability and final oil recovery in labratory.

Keywords: low salinity water, smart water, wettability alteration, carbonated reservoir

Procedia PDF Downloads 267
18 Field Scale Simulation Study of Miscible Water Alternating CO2 Injection Process in Fractured Reservoirs

Authors: Hooman Fallah

Abstract:

Vast amounts of world oil reservoirs are in natural fractured reservoirs. There are different methods for increasing recovery from fractured reservoirs. Miscible injection of water alternating CO2 is a good choice among this methods. In this method, water and CO2 slugs are injected alternatively in reservoir as miscible agent into reservoir. This paper studies water injection scenario and miscible injection of water and CO2 in a two dimensional, inhomogeneous fractured reservoir. The results show that miscible water alternating CO2¬ gas injection leads to 3.95% increase in final oil recovery and total water production decrease of 3.89% comparing to water injection scenario.

Keywords: simulation study, CO2, water alternating gas injection, fractured reservoirs

Procedia PDF Downloads 253
17 Mobile Application for Construction Sites Management

Authors: A. Khelifi, M. Al Kaabi, B. Al Rawashdeh

Abstract:

The infrastructure is one of the most important pillars of the UAE, where it spends millions of dollars for investments in the construction sectors. The research done by Kuwait Finance House (KFH) Research showed clearly that the UAE investments in the construction sectors have exceeded 30 billion dollars in 2013. There are many construction companies in the UAE and each one of them is taking the responsibilities to build different infrastructures. The large scale construction projects consist of multi human activities which can affect the efficiency and productivity of the running projects. The Construction Administration System is developed to increase the efficiency and productivity at the construction sites. It runs on two platforms: web server and mobile phone and supports two main users: mobile user and institution employee. With Construction Administration Mobile Application the user can manage and control several projects, create several reports and send these reports in Portable Document Format (PDF) formats through emails, view the physical location of each project, capturing and save photos. An institution employee can use the system to view all existing workers and projects, send emails and view the progress of each project.

Keywords: construction sites, management, mobile application, Portable Document Format (PDF)

Procedia PDF Downloads 343
16 Improvement Image Summarization using Image Processing and Particle swarm optimization Algorithm

Authors: Hooman Torabifard

Abstract:

In the last few years, with the progress of technology and computers and artificial intelligence entry into all kinds of scientific and industrial fields, the lifestyles of human life have changed and in general, the way of humans live on earth has many changes and development. Until now, some of the changes has occurred in the context of digital images and image processing and still continues. However, besides all the benefits, there have been disadvantages. One of these disadvantages is the multiplicity of images with high volume and data; the focus of this paper is on improving and developing a method for summarizing and enhancing the productivity of these images. The general method used for this purpose in this paper consists of a set of methods based on data obtained from image processing and using the PSO (Particle swarm optimization) algorithm. In the remainder of this paper, the method used is elaborated in detail.

Keywords: image summarization, particle swarm optimization, image threshold, image processing

Procedia PDF Downloads 99
15 Water Injection in One of the Southern Iranian Oil Field, a Case Study

Authors: Hooman Fallah

Abstract:

Seawater injection and produced water re-injection are presently the most commonly used approach to enhanced recovery. The dominant factors for total oil recovery are the reservoir temperature, reservoir pressure, crude oil and water composition. In this study, the production under water injection in Soroosh, one of the southern Iranian heavy oil field has been simulated (the fluid properties are focused). In order to reveal the dominant factors in this production process, the sensitivity analysis has been done for the following effective factors, fluid viscosity, initial water saturation, gravity force and injection well strategy. It is crystal clear that the study of the dominant factors in production processes will help the engineers to design the best production mechanisms in our numerous hydrocarbon reservoirs.

Keywords: water injection, initial water saturation, oil viscosity, gravity force, injection well strategy

Procedia PDF Downloads 374
14 Preparation and Characterization of Nanocrystalline Cellulose from Acacia mangium

Authors: Samira Gharehkhani, Seyed Farid Seyed Shirazi, Abdolreza Gharehkhani, Hooman Yarmand, Ahmad Badarudin, Rushdan Ibrahim, Salim Newaz Kazi

Abstract:

Nanocrystalline cellulose (NCC) were prepared by acid hydrolysis and ultrasound treatment of bleached Acacia mangium fibers. The obtained rod-shaped nanocrystals showed a uniform size. The results showed that NCC with high crystallinity can be obtained using 64 wt% sulfuric acid. The effect of synthesis condition was investigated. Different reaction times were examined to produce the NCC and the results revealed that an optimum reaction time has to be used for preparing the NCC. Morphological investigation was performed using the transmission electron microscopy (TEM). Fourier transform infrared (FTIR) spectroscopy and thermogravimetric analysis (TGA) were performed. X-ray diffraction (XRD) analysis revealed that the crystallinity increased with successive treatments. The NCC suspension was homogeneous and stable and no sedimentation was observed for a long time.

Keywords: acid hydrolysis, nanocrystalline cellulose, nano material, reaction time

Procedia PDF Downloads 473
13 FEM Study of Different Methods of Fiber Reinforcement Polymer Strengthening of a High Strength Concrete Beam-Column Connection

Authors: Talebi Aliasghar, Ebrahimpour Komeleh Hooman, Maghsoudi Ali Akbar

Abstract:

In reinforced concrete (RC) structures, beam-column connection region has a considerable effect on the behavior of structures. Using fiber reinforcement polymer (FRP) for the strengthening of connections in RC structures can be one of the solutions to retrofitting this zone which result in the enhanced behavior of structure. In this paper, these changes in behavior by using FRP for high strength concrete beam-column connection have been studied by finite element modeling. The concrete damage plasticity (CDP) model has been used to analyze the RC. The results illustrated a considerable development in load-bearing capacity but also a noticeable reduction in ductility. The study also assesses these qualities for several modes of strengthening and suggests the most effective mode of strengthening. Using FRP in flexural zone and FRP with 45-degree oriented fibers in shear zone of joint showed the most significant change in behavior.

Keywords: HSC, beam-column connection, Fiber Reinforcement Polymer, FRP, Finite Element Modeling, FEM

Procedia PDF Downloads 119
12 Influence of Recombination of Free and Trapped Charge Carriers on the Efficiency of Conventional and Inverted Organic Solar Cells

Authors: Hooman Mehdizadeh Rad, Jai Singh

Abstract:

Organic solar cells (OSCs) have been actively investigated in the last two decades due to their several merits such as simple fabrication process, low-cost manufacturing, and lightweight. In this paper, using the optical transfer matrix method (OTMM) and solving the drift-diffusion equations processes of recombination are studied in inverted and conventional bulk heterojunction (BHJ) OSCs. Two types of recombination processes are investigated: 1) recombination of free charge carriers using the Langevin theory and 2) of trapped charge carriers in the tail states with exponential energy distribution. These recombination processes are incorporated in simulating the current- voltage characteristics of both conventional and inverted BHJ OSCs. The results of this simulation produces a higher power conversion efficiency in the inverted structure in comparison with conventional structure, which agrees well with the experimental results.

Keywords: conventional organic solar cells, exponential tail state recombination, inverted organic solar cells, Langevin recombination

Procedia PDF Downloads 149
11 The Role of Smartphones on Iranian Couples' Relationship: An Analysis

Authors: Niloofar Hooman

Abstract:

The present study aims at investigating the positive and negative effects of using Smartphones on couples committed relationships. Despite the fact that many couples may benefit from the positive aspects of Smartphones, it is not clear how their feeling of trust, intimacy and connection in their relationships get affected by Smartphones. This is important as it highlights the ambivalent influences of Smartphones on couple’s relationships. On the one hand, Smartphones can enhance their social and emotional interactions and on the other hand, they can cause mistrust and isolation between them. Trust, intimacy and honesty are of important factors through which a stable relationship can be constructed. Nevertheless, some characteristics of Smartphones such as being fluid and personalized can harm the relationship and consequently destroy it. Thus, it is necessary to investigate how Iranian couples in committed relationships use Smartphone to manage their relationship and how couples feel Smartphone have enhanced or detracted a sense of trust, intimacy and connection with their partner? In the first phase of the study, in-depth-interview will be conducted with 30 couples and data will be analyzed using NVIVO software. In the next phase of the study, 1500 participants aged 20 and above will be selected based on cluster sampling. Data will be analyzed both qualitatively and quantitatively.

Keywords: couple, family, internet, intimacy, Smartphone, trust

Procedia PDF Downloads 353
10 Drought Stress and the Importance of Osmotic Adjustment

Authors: Hooman Rowshanaie

Abstract:

The majority of green plants have 70%-90% water, this amount depend on age of plants, species, tissues of plants and also the environmental conditions that plants growth and development on it. Because of intense plant demanding to achieve the available water for growing and developing, always plants need a water sources and also mechanisms to retention the water and reduction water loss under critical situation and water deficit conditions otherwise the yield of plants would be decreased. Decreasing the yield depend on genotypes, intense of water deficit and also growth stage. Recently the mechanisms and also compound that have major role to water stress adaption of plants would be consideration. Osmotic adjustment is one of the most important mechanisms in terms of this field that many valuable researches focused on it because the majority of organic and inorganic solutes directly or even indirectly have pivotal role in this phenomenon. The contribution of OA to prevent water loss in response to water deficit and resistance to water stress taken to consideration recently and also the organic and inorganic compounds to OA tended has a high rate of significant.

Keywords: water deficit, drought stress, osmotic adjustment, organic compound, inorganic compound, solute

Procedia PDF Downloads 380
9 Numerical Modeling to Validate Theoretical Models of Toppling Failure in Rock Slopes

Authors: Hooman Dabirmanesh, Attila M. Zsaki

Abstract:

Traditionally, rock slope stability is carried out using limit equilibrium analysis when investigating toppling failure. In these equilibrium methods, internal forces exerted between columns are not clearly defined, and to the authors’ best knowledge, there is no consensus in literature with respect to the results of analysis. A discrete element method-based numerical model was developed and applied to simulate the behavior of rock layers subjected to toppling failure. Based on this calibrated numerical model, a study of the location and distribution of internal forces that result in equilibrium was carried out. The sum of side forces was applied at a point on a block which properly represents the force to determine the inter-column force distribution. In terms of the side force distribution coefficient, the result was compared to those obtained from laboratory centrifuge tests. The results of the simulation show the suitable criteria to select the correct position for the internal exerted force between rock layers. In addition, the numerical method demonstrates how a theoretical method could be reliable by considering the interaction between the rock layers.

Keywords: contact bond, discrete element, force distribution, limit equilibrium, tensile stress

Procedia PDF Downloads 114
8 Numerical Analysis of Bearing Capacity of Caissons Subjected to Inclined Loads

Authors: Hooman Dabirmanesh, Mahmoud Ghazavi, Kazem Barkhordari

Abstract:

A finite element modeling for determination of the bearing capacity of caissons subjected to inclined loads is presented in this paper. The model investigates the uplift capacity of the caisson with varying cross sectional area. To this aim, the behavior of the soil is assumed to be elasto-plastic, and its failure is controlled by Modified Cam-Clay failure criterion. The simulation takes into account the couple analysis. The approach is verified using available data from other research work especially centrifuge data. Parametric studies are subsequently performed to investigate the effect of contributing parameters such as aspect ratio of the caisson, the loading rate, the loading direction angle, and points where the external load is applied. In addition, the influence of the caisson geometry is taken into account. The results show the bearing capacity of the caisson increases with increasing the taper angle. Hence, the pullout capacity will increase using the same material. In addition, the bearing capacity of caissons strongly depends on the suction that is generated at tip and in sealed surface on top of caisson. Other results concerning the influencing factors will be presented.

Keywords: aspect ratio, finite element method, inclined load, modified Cam clay, taper angle, undrained condition

Procedia PDF Downloads 224
7 Altered Lower Extremity Biomechanical Risk Factor Related to Anterior Cruciate Ligament Injury in Athlete with Functional Ankle Instability

Authors: Mohammad Karimizadehardakani, Hooman Minoonejad, Reza Rajabi, Ali Sharifnejad

Abstract:

Background: Ankle sprain is one of the most important risk factor of anterior cruciate ligament (ACL) injury. Also, functional ankle instability (FAI) population has alterations in lower extremity sagittal plane biomechanics during landing task. We want to examine whether biomechanical alterations demonstrated by FAI patients are associated with the mechanism of ACL injury during high risk and sport related tasks. Methods: Sixteen basketball player with FAI and 16 non-injured control performed a single-leg cross drop landing. Knee sagittal and frontal (ATSF) was calculated. Independent t-tests, multiple linear regression, and Pearson correlation were used for analysis data. Result: Subject with FAI showed more peak ATFS, posterior ground reaction force (GRF) and less knee flexion, compared to the controls (P= 0.001, P= 0.004, P= 0.011). Knee flexion (r= −0.824, P = 0.011) and posterior GRF (r= 0.901, P = .001) were correlated with ATSF; Posterior GRF was factor that most explained the variance in ATSF (R2= 0.645; P = .001) in the FAI group. Conclusions: Result of our study showed there is a potential biomechanical relationship between the presence of FAI and risk factors associated with ACL injury mechanism.

Keywords: functional ankle instability, anterior cruciate ligament, biomechanics, risk factor

Procedia PDF Downloads 186
6 A Discrete Element Method-Based Simulation of Toppling Failure Considering Block Interaction

Authors: Hooman Dabirmanesh, Attila M. Zsaki

Abstract:

The toppling failure mode in a rock mass is considerably different from the most common sliding failure type along an existing or an induced slip plane. Block toppling is observed in a rock mass which consists of both a widely-spaced basal cross-joint set and a closely-spaced discontinuity set dipping into the slope. For this case, failure occurs when the structure cannot bear the tensile portion of bending stress, and the columns or blocks overturn by their own weight. This paper presents a particle-based discrete element model of rock blocks subjected to a toppling failure where geometric conditions and interaction among blocks are investigated. A series of parametric studies have been conducted on particles’ size, arrangement and bond contact among of particles which are made the blocks. Firstly, a numerical investigation on a one-block system was verified. Afterward, a slope consisting of multi-blocks was developed to study toppling failure and interaction forces between blocks. The results show that the formation of blocks, especially between the block and basal plane surface, can change the process of failure. The results also demonstrate that the initial configuration of particles used to form the blocks has a significant role in achieving accurate simulation results. The size of particles and bond contacts have a considerable influence to change the progress of toppling failure.

Keywords: block toppling failure, contact interaction, discrete element, particle size, random generation

Procedia PDF Downloads 148
5 An Interesting Case of Management of Life Threatening Calcium Disequilibrium in a Patient with Parathyroid Tumor

Authors: Rajish Shil, Mohammad Ali Houri, Mohammad Milad Ismail, Fatimah Al Kaabi

Abstract:

The clinical presentation of Primary hyperparathyroidism can vary from simple asymptomatic hypercalcemia to severe life-threatening hypercalcemic crisis with multi-organ dysfunction, which can be due to parathyroid adenoma or sometimes with malignant cancer. This cascade of clinical presentation can lead to a diagnostic and therapeutic challenge for treating the disease. We are presenting a case of severe hypercalcemic crisis due to parathyroid adenoma with an emphasis on early management, diagnosis, and interventions to prevent any lifelong complications and any permanent organ dysfunction. A 30 years old female with a history of primary Infertility, admitted to Al Ain Hospital critical care unit with Acute Severe Necrotizing Pancreatitis. She initially had a 1-month history of abdominal pain on and off, for which she was treated conservatively with no much improvement, and later on, she developed life-threatening severe pancreatitis, which required her to be admitted to the critical care unit. She was transferred from a private healthcare facility, where she was found to have a very high level of calcium up to 15mmol/L. She received systemic Zoledronic Acid, which lowered her calcium level transiently and later was increased again. She went on to develop multiple end-organ damages along with multiple electrolytes disturbances. She was found to have high levels of Parathyroid hormone, which was correlated with a parathyroid mass on the neck via radiological imaging. After a long course of medical treatment to lower the calcium to a near-normal level, parathyroidectomy was done, which showed parathyroid adenoma on histology. She developed hungry bone syndrome after the surgery and pancreatic pseudocyst after resolving of pancreatitis. She required aggressive treatment with Intravenous calcium for her hypocalcemia as she received zoledronic acid at the beginning of the disease. Later on, she was discharged on long term calcium and other electrolytes supplements. In patients presenting with hypercalcemia, it is prudent to investigate and start treatment early to prevent complications and end-organ damage from hypercalcemia and also to treat the primary cause of the hypercalcemia, with conscious follow up to prevent hypocalcemic complications after treatment. It is important to follow up patients with parathyroid adenomas for a long period in order to detect any recurrence of the tumor or to make sure if the primary tumor is either benign or malignant.

Keywords: hypercalcemia, pancreatitis, hypocalcemia, hyperparathyroidism

Procedia PDF Downloads 86
4 A Study on Eliteathletes and Coaches' Attitude towards Sport Psychologyi the Areas of Sports

Authors: Mahdi PourAsghar, Abbas Mas'udzadeh, Abdulhakim Tirgari, Saeed Dabiri Roushan, Hooman Rashidi, Fariba Salehi

Abstract:

Objective: One of the major objectives in sports areas is to achieve maximum athletic performance. Physical and psychological preparations are the basic factors for achieving maximum performance in athletes. Unfortunately, in the field of physical preparation, we can see maximum attention and planning of trainers and sports officials. But despite the importance of psychological preparation of athletes and its serious and profound effect on athletic performance, the results of sports competitions show that less attention is paid to this topic, and it is less under the control of counselors and psychologists in different areas of our sport. Therefore, this study aimed to evaluate the attitude of athletes and coaches to sport psychology. Materials and methods: A descriptive study with a sample size of 234 elite athletes and 216 skilled coaches was conducted in different areas of sports, in Sari, Mazandaran in 2015.The instrument was a questionnaire consisting of two parts of demographic data and Martin questionnaire, assessing the attitude to sport psychology. The data from this study were analyzed using Spss version 18, descriptive statistics tests, and Chi-square test. Results: In this study, positive attitudes of participants in need and confidence towards sport psychology consultation in athletes and coaches group were 55/1 and 56/5 percent, respectively. The positive attitude of female athletes in belief to psychology consultation was more than male athletes. Athletes with higher education had more positive attitude towards the presence of psychologists and psychiatrists in fields of sports. Conclusion: According to the findings based on the need to the psychology consultation in different areas of sports, it is recommended that through training of specialists in the field of sport psychology and review of sports programs in different fields of sports, the presence of these counselors to maintain the psychological preparation of athletes to achieve maximum athletic performance and reduce anxiety and stress be used.

Keywords: Keywords: Athletes, Eliteathletes, Coaches, Attitude, Sport psychology.

Procedia PDF Downloads 306
3 Characteristics of the Wake behind a Heated Cylinder in Relatively High Reynolds Number

Authors: Morteza Khashehchi, Kamel Hooman

Abstract:

Thermal effects on the dynamics and stability of the flow past a circular cylinder operating in the mixed convection regime is studied experimentally for Reynolds number (ReD) between 1000 and 4000, and different cylinder wall temperatures (Tw) between 25 and 75°C by means of Particle Image Velocimetry (PIV). The experiments were conducted in a horizontal wind tunnel with the heated cylinder placed horizontally. With such assumptions, the direction of the thermally induced buoyancy force acting on the fluid surrounding the heated cylinder would be perpendicular to the flow direction. In each experiment, to acquire 3000 PIV image pairs, the temperature and Reynolds number of the approach flow were held constant. By adjusting different temperatures in different Reynolds numbers, the corresponding Richardson number (RiD = Gr/Re^2) was varied between 0:0 (unheated) and 10, resulting in a change in the heat transfer process from forced convection to mixed convection. With increasing temperature of the wall cylinder, significant modifications of the wake flow pattern and wake vortex shedding process were clearly revealed. For cylinder at low wall temperature, the size of the wake and the vortex shedding process are found to be quite similar to those of an unheated cylinder. With high wall temperature, however, the high temperature gradient in the wake shear layer creates a type of vorticity with opposite sign to that of the shear layer vorticity. This temperature gradient vorticity weakens the strength of the shear layer vorticity, causing delay in reaching the recreation point. In addition to the wake characteristics, the shedding frequency for the heated cylinder is determined for all aforementioned cases. It is found that, as the cylinder wall is heated, the organization of the vortex shedding is altered and the relative position of the first detached vortices with respect to the second one is changed. This movement of the first detached vortex toward the second one increases the frequency of the shedding process. It is also found that the wake closure length decreases with increasing the Richardson number.

Keywords: heated cylinder, PIV, wake, Reynolds number

Procedia PDF Downloads 363
2 Glenoid Osteotomy with Various Tendon Transfers for Brachial Plexus Birth Palsy: Clinical Outcomes

Authors: Ramin Zargarbashi, Hamid Rabie, Behnam Panjavi, Hooman Kamran, Seyedarad Mosalamiaghili, Zohre Erfani, Seyed Peyman Mirghaderi, Maryam Salimi

Abstract:

Background: Posterior shoulder dislocation is one of the disabling complications of brachial plexus birth injury (BPBI), and various treatment options, including capsule and surrounding muscles release for open reduction, humeral derotational osteotomy, and tendon transfers, have been recommended to manage it. In the present study, we aimed to determine the clinical outcome of open reduction with soft tissue release, tendon transfer, and glenoid osteotomy inpatients with BPBI and posterior shoulder dislocation or subluxation. Methods: From 2018 to 2020, 33 patients that underwent open reduction, glenoid osteotomy, and tendon transfer were included. The glenohumeral deformity was classified according to the Waters radiographic classification. Functional assessment was performed using the Mallet grading system before and at least two years after the surgery. Results: The patients were monitored for 26.88± 5.47 months. Their average age was 27.5±14 months. Significant improvement was seen in the overall Mallet score (from 13.5 to 18.91 points) and its segments, including hand to mouth, hand to the neck, global abduction, global external rotation, abduction degree, and external rotation degree. Hand-to-back score and the presence of trumpet sign were significantly decreased in the post-operation phase (all p values<0.001). The above-mentioned variables significantly changed for both infantile and non-infantile dislocations. Conclusion: Our study demonstrated that open reduction along with glenoid osteotomy improves retroversion, and muscle strengthening with different muscle transfers is an effective technique for BPBI.

Keywords: birth injuries, nerve injury, brachial plexus birth palsy, Erb palsy, tendon transfer

Procedia PDF Downloads 63
1 Germline Mutations of Mitogen-Activated Protein Kinases Pathway Signaling Pathway Genes in Children

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

Abstract:

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

Procedia PDF Downloads 111