Search results for: congenital limb deformities

Authors: Frazer Kirk, Rohen Skiba, Pankaj Saxena

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The natural history of the QAV is poorly understood due to the exceeding rarity of the condition. Incidence rates vary between 0.00028-1%. Classically patients present with Aortic Regurgitation (AR) between 40-60 years of age experiencing palpitations, chest pain, or heart failure. (1, 2) Echocardiography is the mainstay of diagnosis for this condition; however, given the rarity of this condition, it can easily be overlooked, as demonstrated here. The case report that follows serves as a reminder of the condition to reduce the innate cognitive bias to overlook the diagnosis due to the availability heuristic. Intraoperative photography, echocardiographic and magnetic resonance imaging from this case for reference to demonstrate that while the diagnosis of Aortic regurgitation was recognized early, the valve morphology was underappreciated.

Keywords: quadricuspid aortic valve, cardiac surgery, echocardiography, congenital

Procedia PDF Downloads 143

Authors: H. Chenine, D. Ouinas, Z. Bennaceur

Abstract:

The thin shell structures like metal are particularly susceptible to buckling or geometric instability. Their sizing is performed by resorting to simplified rules, this approach is generally conservative. Indeed, these structures are very sensitive to the slightest imperfection shape (initial geometrical defects). The design is usually based on the knowledge of the real or perceived initial state. Now this configuration evolves over time, there is usually the addition of new deformities due to operation (accidental loads, creep), but also to loss of material located in the corroded areas. Taking into account these various damage generally led to a loss of bearing capacity. In order to preserve the charge potential of the structure, it is then necessary to find a different material. In our study, we plan to replace the material used for reservoirs found in the company Sonatrach with a composite material made from carbon fiber or glass. 6 to 12 layers of composite are simply stuck. Research is devoted to the study of the buckling of multilayer shells subjected to an imposed displacement, allowed us to identify the key parameters and those whose effect is less. For all results, we find that the carbon epoxy T700E is the strongest, increasing the number of layers increases the strength of the shell.

Keywords: finite element analysis, circular notches, buckling, tank made composite materials

Procedia PDF Downloads 196

Authors: H. Chenine, D. Ouinas, Z. Bennaceur

Abstract:

The thin shell structures like metal are particularly susceptible to buckling or geometric instability. Their sizing is performed by resorting to simplified rules, this approach is generally conservative. Indeed, these structures are very sensitive to the slightest imperfection shape (initial geometrical defects). The design is usually based on the knowledge of the real or perceived initial state. Now this configuration evolves over time, there is usually the addition of new deformities due to operation (accidental loads, creep), but also to loss of material located in the corroded areas. Taking into account these various damage generally led to a loss of bearing capacity. In order to preserve the charge potential of the structure, it is then necessary to find a different material. In our study we plan to replace the material used for reservoirs found in the company Sonatrach with a composite material made from carbon fiber or glass. 6 to 12 layers of composite are simply stuck. Research is devoted to the study of the buckling of multilayer shells subjected to an imposed displacement, allowed us to identify the key parameters and those whose effect is less. For all results, we find that the carbon epoxy T700E is the strongest, increasing the number of layers increases the strength of the shell.

Keywords: Finite Element Analysis, circular notches, buckling, tank made composite materials

Procedia PDF Downloads 340

Authors: Rida Ahmad, Areej S. Habib, Sohail A. Dogar, Saqib H. Qazi

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Transverse testicular ectopia is a rare congenital disorder involving mal descent and mal-positioning of the testes, reported in the medical literature about 300 times. Many theories attempt to explain the failure of the testes to migrate to their correct location. While the age at presentation can vary; most cases present in early adolescents or late adulthood. It is often an incidental discovery made during an operative intervention, most commonly during hernia exploration. It can be isolated or present with a plethora of anomalies. We present the case of a 2-year-old male with transverse testicular ectopia who presented with vague abdominal pain. He was managed successfully with the Modified Ombredanne procedure and good outcome 6 months after the procedure.

Keywords: cryptorchidism, persistent Mullerian duct syndrome, transverse testicular ectopia, testicular mal-descent

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Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

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We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

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Authors: Neerja Meena, Paresh Sukhani

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Dandy walker malformation is a generalised disorder of mesenchymal development that affect both the cerebellum and overlying meninges. Classically dandy-walker malformation consists of a triad of- 1:vermian and hemispheric cerebellar hypoplasia 2:cystic dilatation of 4th ventricle 3: enlarged posterior fossa with the upward migration of tentorium(lambdoid- torcular inversion). Clinical presentation: four months old female child with hydrocephalus and neurological symptoms. Generally- early death is common in classic dandy walker malformation. However, if it is relatively mild and uncomplicated by other CNS anomalies, intelligence can be normal and neurologic deficits minimal. Usually, VP shunting is the treatment of choice for this hydrocephalus. Conclusion: MRI is the modality of choice to diagnose posterior fossa malformation. However, it can be ruled out through using during the antenatal check as the prognosis of this malformation is not good; it's better to diagnose it inutero.

Keywords: Dandy Walker, Mri, Earlydaignosis, Treatment

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Authors: Mirabbos Mirkamalov, Zavkiddin Mirtoshev

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The M 1.6 class flare occurred on 6^th of September 2012. Our observations correspond to the active region NOAA 11560 with the heliographic coordinates N04W71. The event took place between 04:00 UT and 04:45 UT, and was close to the solar limb at the western region. The flare temperature correlates with flux peak, increases for a short period (between 04:08 UT and 04:12 UT), rises impulsively, attains a maximum value of about 17 MK at 04:12 UT and gradually decreases after peak value. Around the peak we observe significant emissions of X-ray sources. Flux profiles of the X-ray emission exhibit a progressively faster raise and decline as the higher energy channels are considered.

Keywords: magnetic reconnection, solar atmosphere, solar flare, X-ray emission

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Authors: M. Haruna, O. O. Onafowokan, G. Holt, K. Anderson, R. G. Middleton

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Background: Requirements for satisfactory outcomes following total hip arthroplasty (THA) include restoration of femoral offset, version, and leg length. Various techniques have been described for restoring these biomechanical parameters, with leg length restoration being the most predominantly described. We describe a “quartered head technique” (QHT) which uses a stepwise series of femoral head osteotomies to identify and preserve the centre of rotation of the femoral head during THA in order to ensure reconstruction of leg length, offset and stem version, such that hip biomechanics are restored as near to normal as possible. This study aims to identify whether using the QHT during hip arthroplasty effectively restores leg length and femoral offset to within acceptable parameters. Methods: A retrospective review of 206 hips was carried out, leaving 124 hips in the final analysis. Power analysis indicated a minimum of 37 patients required. All operations were performed using an anterolateral approach by a single surgeon. All femoral implants were cemented, collarless, polished double taper CPT® stems (Zimmer, Swindon, UK). Both cemented, and uncemented acetabular components were used (Zimmer, Swindon, UK). Leg length, version, and offset were assessed intra-operatively and reproduced using the QHT. Post-operative leg length and femoral offset were determined and compared with the contralateral native hip, and the difference was then calculated. For the determination of leg length discrepancy (LLD), we used the method described by Williamson & Reckling, which has been shown to be reproducible with a measurement error of ±1mm. As a reference, the inferior margin of the acetabular teardrop and the most prominent point of the lesser trochanter were used. A discrepancy of less than 6mm LLD was chosen as acceptable. All peri-operative radiographs were assessed by two independent observers. Results: The mean absolute post-operative difference in leg length from the contralateral leg was +3.58mm. 84% of patients (104/124) had LLD within ±6mm of the contralateral limb. The mean absolute post-operative difference in offset from contralateral leg was +3.88mm (range -15 to +9mm, median 3mm). 90% of patients (112/124) were within ±6mm offset of the contralateral limb. There was no statistical difference noted between observer measurements. Conclusion: The QHT provides a simple, inexpensive yet effective method of maintaining femoral leg length and offset during total hip arthroplasty. Combining this technique with pre-operative templating or other techniques described may enable surgeons to reduce even further the discrepancies between pre-operative state and post-operative outcome.

Keywords: leg length discrepancy, technical tip, total hip arthroplasty, operative technique

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Authors: Cláudia Patrocínio, Beatriz Fernandes, Ana Filipa Pires

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Background: Mirror therapy (MT) is used to improve motor function after stroke. During MT, a mirror is placed between the two upper limbs (UL), thus reflecting movements of the non- affected side as if it were the affected side. Objectives: The aim of this review is to analyze the evidence on the effec.tiveness of MT in the recovery of UL function in population with post chronic stroke. Methods: The literature search was carried out in PubMed, ISI Web of Science, and PEDro database. Inclusion criteria: a) studies that include individuals diagnosed with stroke for at least 6 months; b) intervention with MT in UL or comparing it with other interventions; c) articles published until 2023; d) articles published in English or Portuguese; e) randomized controlled studies. Exclusion criteria: a) animal studies; b) studies that do not provide a detailed description of the intervention; c) Studies using central electrical stimulation. The methodological quality of the included studies was assessed using the Physiotherapy Evidence Database (PEDro) scale. Studies with < 4 on PEDro scale were excluded. Eighteen studies met all the inclusion criteria. Main results and conclusions: The quality of the studies varies between 5 and 8. One article compared muscular strength training (MST) with MT vs without MT and four articles compared the use of MT vs conventional therapy (CT), one study compared extracorporeal shock therapy (EST) with and without MT and another study compared functional electrical stimulation (FES), MT and biofeedback, three studies compared MT with Mesh Glove (MG) or Sham Therapy, five articles compared performing bimanual exercises with and without MT and three studies compared MT with virtual reality (VR) or robot training (RT). The assessment of changes in function and structure (International Classification of Functioning, Disability and Health parameter) was carried out, in each article, mainly using the Fugl Meyer Assessment-Upper Limb scale, activity and participation (International Classification of Functioning, Disability and Health parameter) were evaluated using different scales, in each study. The positive results were seen in these parameters, globally. Results suggest that MT is more effective than other therapies in motor recovery and function of the affected UL, than these techniques alone, although the results have been modest in most of the included studies. There is also a more significant improvement in the distal movements of the affected hand than in the rest of the UL.

Keywords: physical therapy, mirror therapy, chronic stroke, upper limb, hemiplegia

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Authors: Dhivyalakshmi Gnanasekaran, Sonali Adole Prasante, Raveendranath Veeramamani, H. Y. Suma

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A rare case of intestinal malrotation with midline descending colon and right sided sigmoid colon was observed in an adult male cadaver aged around 55 years during routine dissection. The descending colon began from the splenic flexure and gradually descended downwards to occupy the midline position and turned to the right side to be continued as sigmoid colon at the level of the fifth lumbar vertebra. In the right iliac fossa some part of loop of sigmoid colon displaced into the right lumbar region before entering into the true pelvis to continue as rectum. This anomalous descending and sigmoid colon was supplied by varying branching pattern of inferior mesenteric artery. It is extremely important to consider this embryological anomaly before any interventional diagnostic procedures like colonoscopy and to enhance the safety of colonic surgery.

Keywords: sigmoid colon, descending colon, hindgut, malrotation

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Authors: Y. Z. Gad

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Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

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Authors: Hansraj Riteesh Bookun, Cassandra Monique Hidajat

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This pilot study investigated the efficacy of a newly designed shoe which will act as an intermittent pneumatic compression device to augment venous flow in the lower limb. The aim was to assess the degree with which a wearable intermittent compression device can increase the venous flow in the popliteal vein. Background: Deep venous thrombosis and chronic venous insufficiency are relatively common problems with significant morbidity and mortality. While mechanical and chemical thromboprophylaxis measures are in place in hospital environments (in the form of TED stockings, intermittent pneumatic compression devices, analgesia, antiplatelet and anticoagulant agents), there are limited options in a community setting. Additionally, many individuals are poorly tolerant of graduated compression stockings due to the difficulty in putting them on, their constant tightness and increased associated discomfort in warm weather. These factors may hinder the management of their chronic venous insufficiency. Method: The device is lightweight, easy to wear and comfortable, with a self-contained power source. It features a Bluetooth transmitter and can be controlled with a smartphone. It is externally almost indistinguishable from a normal shoe. During activation, two bladders are inflated -one overlying the metatarsal heads and the second at the pedal arch. The resulting cyclical increase in pressure squeezes blood into the deep venous system. This will decrease periods of stasis and potentially reduce the risk of deep venous thrombosis. The shoe was fitted to 2 healthy participants and the peak systolic velocity of flow in the popliteal vein was measured during and prior to intermittent compression phases. Assessments of total flow volume were also performed. All haemodynamic assessments were performed with ultrasound by a licensed sonographer. Results: Mean peak systolic velocity of 3.5 cm/s with standard deviation of 1.3 cm/s were obtained. There was a three fold increase in mean peak systolic velocity and five fold increase in total flow volume. Conclusion: The device augments venous flow in the leg significantly. This may contribute to lowered thromboembolic risk during periods of prolonged travel or immobility. This device may also serve as an adjunct in the treatment of chronic venous insufficiency. The study will be replicated on a larger scale in a multi—centre trial.

Keywords: venous, intermittent compression, shoe, wearable device

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Authors: Bilal Ahmed

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Rehabilitation of congenital and acquired maxillofacial defects is always a challenging clinical scenario. These defects pose major physiological and psychological threat not only to the patient but to the entire family. There has been an enormous scientific development in maxillofacial rehabilitation with the advent of CAD CAM, 3-D scanning, Osseo-integrated implants and improved restorative materials. There are also specialized centers with latest diagnostic and treatment facilities in the developed countries. However, in certain clinical case scenarios, conventional prosthodontic principles are still the gold standards. Similarly in a less developed world, financial and technical constraints are factors affecting treatment planning and final outcomes. However, we can do a lot of benefits to the affected human beings, even with use of simple and cost-effective conventional prosthodontic techniques and materials. These treatment strategies may sometimes be considered as intermediate or temporary options, but with regular follow-up maintenance these can be used on a definitive basis.

Keywords: maxillofacial defects, obturators, prosthodontics, medical and health sciences

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Authors: Mohammad Alqattan, Tala Alkhunani, Reema Al, Aldawish, Felwa Almurshard, Abdullah Alzahrani

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: Poland’s Syndrome is a congenital anomaly with two clinical features : unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. Case presentation: We report a rare case of bilateral Poland’s syndrome with several unique features. Discussion: Poland’s syndrome is thought to be due to a vascular insult to the subclavian axis around the 6th week of gestation. Our patient has multiple rare and unique features of Poland’s syndrome. Conclusion: To our best knowledge, for the first time in the literature we associate Poland’s syndrome with cone-shaped epiphysis of the metacarpals of all fingers. Bilaterality, cleft hand deformity, and dextrocardia, were also rare features in our patient.

Keywords: Poland's syndrome, cleft hand deformity, bilaterality, dextrocardia, cone-shaped epiphysis

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Authors: Nawaf Al Khashram, Graham Arnold, Weijie Wang

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Background—Gait classifying allows clinicians to differentiate gait patterns into clinically important categories that help in clinical decision making. Reliable comparison of gait data between normal and patients requires knowledge of the gait parameters of normal children's specific age group. However, there is still a lack of the gait database for normal children of different ages. Objectives—The aim of this study is to investigate the kinematics of the lower limb joints during gait for normal children in different age groups. Methods—Fifty-three normal children (34 boys, 19 girls) were recruited in this study. All the children were aged between 5 to 16 years old. Age groups were defined as three types: young child aged (5-7), child (8-11), and adolescent (12-16). When a participant agreed to take part in the project, their parents signed a consent form. Vicon® motion capture system was used to collect gait data. Participants were asked to walk at their comfortable speed along a 10-meter walkway. Each participant walked up to 20 trials. Three good trials were analyzed using the Vicon Plug-in-Gait model to obtain parameters of the gait, e.g., walking speed, cadence, stride length, and joint parameters, e.g. joint angle, force, moments, etc. Moreover, each gait cycle was divided into 8 phases. The range of motion (ROM) angle of pelvis, hip, knee, and ankle joints in three planes of both limbs were calculated using an in-house program. Results—The temporal-spatial variables of three age groups of normal children were compared between each other; it was found that there was a significant difference (p < 0.05) between the groups. The step length and walking speed were gradually increasing from young child to adolescent, while cadence was gradually decreasing from young child to adolescent group. The mean and standard deviation (SD) of the step length of young child, child and adolescent groups were 0.502 ± 0.067 m, 0.566 ± 0.061 m and 0.672 ± 0.053 m, respectively. The mean and SD of the cadence of the young child, child and adolescent groups were 140.11±15.79 step/min, 129±11.84 step/min, and a 115.96±6.47 step/min, respectively. Moreover, it was observed that there were significant differences in kinematic parameters, either whole gait cycle or each phase. For example, RoM of knee angle in the sagittal plane in whole cycle of young child group is (65.03±0.52 deg) larger than child group (63.47±0.47 deg). Conclusion—Our result showed that there are significant differences between each age group in the gait phases and thus children walking performance changes with ages. Therefore, it is important for the clinician to consider age group when analyzing the patients with lower limb disorders before any clinical treatment.

Keywords: age group, gait analysis, kinematics, normal children

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Authors: Hanene Sahli, Aymen Mouelhi, Marwa Hajji, Amine Ben Slama, Mounir Sayadi, Farhat Fnaiech, Radhwane Rachdi

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Fetal abnormality is still a public health problem of interest to both mother and baby. Head defect is one of the most high-risk fetal deformities. Fetal head categorization is a sensitive task that needs a massive attention from neurological experts. In this sense, biometrical measurements can be extracted by gynecologist doctors and compared with ground truth charts to identify normal or abnormal growth. The fetal head biometric measurements such as Biparietal Diameter (BPD), Occipito-Frontal Diameter (OFD) and Head Circumference (HC) needs to be monitored, and expert should carry out its manual delineations. This work proposes a new approach to automatically compute BPD, OFD and HC based on morphological characteristics extracted from head shape. Hence, the studied data selected at the same Gestational Age (GA) from the fetal Ultrasound images (US) are classified into two categories: Normal and abnormal. The abnormal subjects include hydrocephalus, microcephaly and dolichocephaly anomalies. By the use of a support vector machines (SVM) method, this study achieved high classification for automated detection of anomalies. The proposed method is promising although it doesn't need expert interventions.

Keywords: biometric measurements, fetal head malformations, machine learning methods, US images

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Authors: Boonyarat Chaleephay

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The purpose of this research paper was to describe the relationship of acupressure points on the anterior surface of the upper limb in accordance with Applied Thai Traditional Massage (ATTM) and the deep structures located at those acupressure points. There were 2 population groups; normal subjects and cadaver specimens. Eighteen males with age ranging from 20-40 years old and seventeen females with ages ranging from 30-97 years old were studies. This study was able to obtain a fundamental knowledge concerning acupressure point and the deep structures that related to those acupressure points. It might be used as the basic knowledge for clinically applying and planning treatment as well as teaching in ATTM.

Keywords: acupressure point (AP), applie Thai traditional medicine (ATTM), paresthesia, numbness

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Authors: Pushpavathi M., Kavya V., Akshatha V.

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Introduction: Cleft lip and palate (CLP) is a congenital condition which hinders effectual communication due to associated speech and language difficulties. Expressive language delay (ELD) is a feature seen in this population which is influenced by factors such as type and severity of CLP, age at surgical and linguistic intervention and also the type and intensity of speech and language therapy (SLT). Since CLP is the most common congenital abnormality seen in Indian children, early intervention is a necessity which plays a critical role in enhancing their speech and language skills. The interaction between the timing of intervention and factors which contribute to effective intervention by caregivers is an area which needs to be explored. Objectives: The present study attempts to determine the effect of timing of intervention on the contributing maternal factors for effective linguistic intervention in toddlers with repaired CLP with respect to the awareness, home training patterns, speech and non-speech behaviors of the mothers. Participants: Thirty six toddlers in the age range of 1 to 4 years diagnosed as ELD secondary to repaired CLP, along with their mothers served as participants. Group I (Early Intervention Group, EIG) included 19 mother-child pairs who came to seek SLT soon after corrective surgery and group II (Delayed Intervention Group, DIG) included 16 mother-child pairs who received SLT after the age of 3 years. Further, the groups were divided into group A, and group B. Group ‘A’ received SLT for 60 sessions by Speech Language Pathologist (SLP), while Group B received SLT for 30 sessions by SLP and 30 sessions only by mother without supervision of SLP. Method: The mothers were enrolled for the Early Language Intervention Program and following this, their awareness about CLP was assessed through the Parental awareness questionnaire. The quality of home training was assessed through Mohite’s Inventory. Subsequently, the speech and non-speech behaviors of the mothers were assessed using a Mother’s behavioral checklist. Detailed counseling and orientation was done to the mothers, and SLT was initiated for toddlers. After 60 sessions of intensive SLT, the questionnaire and checklists were re-administered to find out the changes in scores between the pre- and posttest measurements. Results: The scores obtained under different domains in the awareness questionnaire, Mohite’s inventory and Mothers behavior checklist were tabulated and subjected to statistical analysis. Since the data did not follow normal distribution (i.e. p > 0.05), Mann-Whitney U test was conducted which revealed that there was no significant difference between groups I and II as well as groups A and B. Further, Wilcoxon Signed Rank test revealed that mothers had better awareness regarding issues related to CLP and improved home-training abilities post-orientation (p ≤ 0.05). A statistically significant difference was also noted for speech and non-speech behaviors of the mothers (p ≤ 0.05). Conclusions: Extensive orientation and counseling helped mothers of both EI and DI groups to improve their knowledge about CLP. Intensive SLT using focused stimulation and a parent-implemented approach enabled them to carry out the intervention in an effectual manner.

Keywords: awareness, cleft lip and palate, early language intervention program, home training, orientation, timing of intervention

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Authors: Nasreen Abdulmannan

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Fetal abnormalities are categorized as a structural abnormality, non-structural abnormality, or a combination of both. Fetal structural abnormalities (FSA) include, but are not limited, to Down syndrome, congenital diaphragmatic hernia, and cleft lip and palate. These abnormalities can be detected in the first weeks of pregnancy, which is almost around 9 - 20 weeks gestational. Etiological factors for FSA are unknown; however, transmitted genetic risk can be one of these factors. Consanguineous marriage often referred to as inbreeding, represents a significant risk factor for FSA due to the increased likelihood of deleterious genetic traits shared by both biological parents. In a country such as the Kingdom of Saudi Arabia (KSA), consanguineous marriage is high, which creates a significant risk of children being born with congenital abnormalities. Historically, the practice of consanguinity occurred commonly among European royalty. For example, Great Britain’s Queen Victoria married her German first cousin, Prince Albert of Coburg. Although a distant blood relationship, the United Kingdom’s Queen Elizabeth II married her cousin, Prince Philip of Greece and Denmark—both of them direct descendants of Queen Victoria. In Middle Eastern countries, a high incidence of consanguineous unions still exists, including in the KSA. Previous studies indicated that a significant gap exists in understanding the lived experiences of Saudi women dealing with an FSA-complicated pregnancy. Eleven participants were interviewed using a semi-structured interview format for this qualitative phenomenological study investigating the lived experiences of pregnant Saudi women carrying a child with FSA. This study explored the gaps in current literature regarding the lived experiences of pregnant Saudi women whose pregnancies were complicated by FSA. In addition, the researcher acquired knowledge about the available support and resources as well as the Saudi cultural perspective on FSA. This research explored the lived experiences of pregnant Saudi women utilizing Giorgi’s (2009) approach to data collection and data management. Findings for this study cover five major themes: (1) initial maternal reaction to the FSA diagnosis per ultrasound screening; (2) strengthening of the maternal relationship with God; (3) maternal concern for their child’s future; (4) feeling supported by their loved ones; and (5) lack of healthcare provider support and guidance. Future research in the KSA is needed to explore the network support for these mothers. This study recommended further clinical nursing research, nursing education, clinical practice, and healthcare policy/procedures to provide opportunities for improvement in nursing care and increase awareness in KSA society.

Keywords: fetal structural abnormalities, psychological distress, health provider, health care

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Authors: Sakshi Gupta, Anupam Agrawal, Ekta Singla

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An exoskeleton design for rehabilitation purpose encounters many challenges, including ergonomically acceptable wearing technology, architectural design human-motion compatibility, actuation type, human-robot interaction, etc. In this paper, a passive architecture for upper limb exoskeleton is proposed for assisting in rehabilitation tasks. Kinematic modelling is detailed for task-based kinematic synthesis of the wearable exoskeleton for self-feeding tasks. The exoskeleton architecture possesses expansion and torsional springs which are able to store and redistribute energy over the human arm joints. The elastic characteristics of the springs have been optimized to minimize the mechanical work of the human arm joints. The concept of hybrid combination of a 4-bar parallelogram linkage and a serial linkage were chosen, where the 4-bar parallelogram linkage with expansion spring acts as a rigid structure which is used to provide the rotational degree-of-freedom (DOF) required for lowering and raising of the arm. The single linkage with torsional spring allows for the rotational DOF required for elbow movement. The focus of the paper is kinematic modelling, analysis and task-based synthesis framework for the proposed architecture, keeping in considerations the essential tasks of self-feeding and self-exercising during rehabilitation of partially healthy person. Rehabilitation of primary functional movements (activities of daily life, i.e., ADL) is routine activities that people tend to every day such as cleaning, dressing, feeding. We are focusing on the feeding process to make people independent in respect of the feeding tasks. The tasks are focused to post-surgery patients under rehabilitation with less than 40% weakness. The challenges addressed in work are ensuring to emulate the natural movement of the human arm. Human motion data is extracted through motion-sensors for targeted tasks of feeding and specific exercises. Task-based synthesis procedure framework will be discussed for the proposed architecture. The results include the simulation of the architectural concept for tracking the human-arm movements while displaying the kinematic and static study parameters for standard human weight. D-H parameters are used for kinematic modelling of the hybrid-mechanism, and the model is used while performing task-based optimal synthesis utilizing evolutionary algorithm.

Keywords: passive mechanism, task-based synthesis, emulating human-motion, exoskeleton

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Authors: Fiona Lourenco, William Allen

Abstract:

Dentofacial deformities are primarily surgically treated via orthognathic surgery. Health-related quality of life is concerned with aspects of quality of life that relate specifically to an individual’s health. Design and Setting: Retrospective analysis of patients who had orthognathic surgery from January 2018 - December 2022 at the trust using the previously validated Orthognathic Quality of Life questionnaire (OQoL). Materials and Methods: 32 Patient questionnaires (which included pre-operative and post-operative separate sections) were obtained via telephone survey. The data was analysed using the two-tailed paired t-test and Wilcoxon signed-rank test. Results: The change in perception post-surgery was highly significant (both tests resulted in p<0.001 for overall analysis as well as for each domain). Overall, a 74% improvement in QoL was seen following orthognathic surgery. Reports of improvement in each domain were as follows: 71% in the social aspect of the deformity domain, 76% in facial aesthetics, 60% in function, and 57% improvement in awareness of facial deformity. Conclusion: The assessment of QoL is becoming progressively imperative in clinical research. The above data shows that orthognathic surgery has a significant improvement in the QoL of patients post-operatively. The results demonstrate improvement in all domains, with perceptions in facial aesthetics seeing the highest change post-operatively.

Keywords: dentofacial, oral, facial asymmetry, orthognathic surgery, quality of life

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Authors: Aran Abd Al Rahman

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Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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Authors: Aftab Ahmed, Farhan Saeed, Muhammad Afzaal, Shinawar Waseem Ali, Ali Imran, Sadaf Munir

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Malnutrition is a globally increasing public health concern among children; it affects number of school children influencing their growth, development and academic performance. The tenet of the current cross sectional study was to assess the nutritional biomarkers of school going children of age 12-15 years resulting in stunting, underweight, overweight, bone deformities and other health disparities in nutritionally deprived urban and rural populations of Pakistan. A sample size comprising of 180 school going children was stipulated from the targeted urban and rural populations. The fallouts of investigation unveiled that both rural and urban populations were experiencing nutritional challenges however; on account of awareness paucity the rustic population was nutritionally more compromised. Hematological tests elucidated 16.7% and 7.8% cases for high glucose level, 35.6% and 27.8% cases for low hemoglobin levels, 14.4% and 15.6% cases for low calcium indices, 12.2% and 4.4% high white blood cell count (WBC), 20% and 14.4% low red blood cell count, 76.7% and 74.4% low hematocrit (HCT) values, among the rural and urban populations respectively. The above mentioned outcomes can serve as a way forward for policy and law maker institutions to curb the possible barricades in the way of healthy nutritional status in these areas

Keywords: malnutrition, hematological study, child nutrition, bone mineral density, calcium, RBC

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Authors: Osk Dagsdottir

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Background—Gait classifying allows clinicians to differentiate gait patterns into clinically important categories that help in clinical decision making. Reliable comparison of gait data between normal and patients requires knowledge of the gait parameters of normal children's specific age group. However, there is still a lack of the gait database for normal children of different ages. Objectives—This study aims to investigate the kinematics of the lower limb joints during gait for normal children in different age groups. Methods—Fifty-three normal children (34 boys, 19 girls) were recruited in this study. All the children were aged between 5 to 16 years old. Age groups were defined as three types: young child aged (5-7), child (8-11), and adolescent (12-16). When a participant agreed to take part in the project, their parents signed a consent form. Vicon® motion capture system was used to collect gait data. Participants were asked to walk at their comfortable speed along a 10-meter walkway. Each participant walked up to 20 trials. Three good trials were analyzed using the Vicon Plug-in-Gait model to obtain parameters of the gait, e.g., walking speed, cadence, stride length, and joint parameters, e.g., joint angle, force, moments, etc. Moreover, each gait cycle was divided into 8 phases. The range of motion (ROM) angle of pelvis, hip, knee, and ankle joints in three planes of both limbs were calculated using an in-house program. Results—The temporal-spatial variables of three age groups of normal children were compared between each other; it was found that there was a significant difference (p < 0.05) between the groups. The step length and walking speed were gradually increasing from young child to adolescent, while cadence was gradually decreasing from young child to adolescent group. The mean and standard deviation (SD) of the step length of young child, child and adolescent groups were 0.502 ± 0.067 m, 0.566 ± 0.061 m and 0.672 ± 0.053 m, respectively. The mean and SD of the cadence of the young child, child and adolescent groups were 140.11±15.79 step/min, 129±11.84 step/min, and a 115.96±6.47 step/min, respectively. Moreover, it was observed that there were significant differences in kinematic parameters, either whole gait cycle or each phase. For example, RoM of knee angle in the sagittal plane in the whole cycle of young child group is (65.03±0.52 deg) larger than child group (63.47±0.47 deg). Conclusion—Our result showed that there are significant differences between each age group in the gait phases and thus children walking performance changes with ages. Therefore, it is important for the clinician to consider the age group when analyzing the patients with lower limb disorders before any clinical treatment.

Keywords: action research, creative learning, mathematics education, professional development

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Authors: Ayat E. Ali, Christeen R. Aziz, Merna A. Helmy, Mohammed M. Malek, Sherif H. El-Gohary

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Goal: Purpose of the project was to make a plastic surgery prediction by using pre-operative images for the plastic surgeries’ patients and to show this prediction on a screen to compare between the current case and the appearance after the surgery. Methods: To this aim, we implemented a software which used data from the internet for facial skin diseases, skin burns, pre-and post-images for plastic surgeries then the post- surgical prediction is done by using K-nearest neighbor (KNN). So we designed and fabricated a smart mirror divided into two parts a screen and a reflective mirror so patient's pre- and post-appearance will be showed at the same time. Results: We worked on some skin diseases like vitiligo, skin burns and wrinkles. We classified the three degrees of burns using KNN classifier with accuracy 60%. We also succeeded in segmenting the area of vitiligo. Our future work will include working on more skin diseases, classify them and give a prediction for the look after the surgery. Also we will go deeper into facial deformities and plastic surgeries like nose reshaping and face slim down. Conclusion: Our project will give a prediction relates strongly to the real look after surgery and decrease different diagnoses among doctors. Significance: The mirror may have broad societal appeal as it will make the distance between patient's satisfaction and the medical standards smaller.

Keywords: k-nearest neighbor (knn), face detection, vitiligo, bone deformity

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Authors: Ayad Asaad Ibrahim

Abstract:

Myoelectrically controlled prostheses are becoming more and more popular, for below-elbow amputation, the wrist flexor and extensor muscle group, while for above-elbow biceps and triceps brachii muscles are used for control of the prosthesis. A two site multi-function controller is presented. Two stainless steel bipolar electrode pairs are used to monitor the activities in both muscles. The detected signals are processed by new pre-whitening technique to identify the accurate tension estimation in these muscles. These estimates will activate the relevant prosthesis control signal, with a time constant of 200 msec. It is ensured that the tension states in the control muscle to activate a particular prosthesis function are similar to those used to activate normal functions in the natural hand. This facilitates easier training.

Keywords: prosthesis, biosignal processing, pre-whitening, myoelectric controller

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Authors: Munirah Ismail, Joon Hock Yeo

Abstract:

Babies born with Tetralogy of Fallot, a congenital heart defect, are required to undergo reconstruction surgery to create a valved conduit. As the child matures, the partially reconstructed pulmonary conduit increases in diameter, while the size of the reconstructed valve remains the same. As a result, follow up surgery is required to replace the undersized valve. Thus, in this project, we evaluated the in-vitro performance of a bi-leaflet valve design in terms of percentage regurgitation with increasing artery (conduit) diameters. Results revealed percentage regurgitations ranging from 13% to 34% for conduits tested. It was observed that percentage of regurgitation increased exponentially with increasing diameters. While the amount of regurgitation may seem severe, it is deemed acceptable, and this valve could potentially reduce the frequency of re-operation in the lifetime of pediatric patients.

Keywords: pulmonary heart valve, tetralogy of fallot, expanded polytetrafluoroethylene valve, pediatric heart valve replacement

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Authors: Adrian Bostan, Nicolae Tapus, Adriana Tapus

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The purpose of this research paper is to study and develop a system that is able to help identify problems and improve human rehabilitation after traumatic injuries. Traumatic injuries in human’s lower limbs can occur over a life time and can have serious side effects if they are not treated correctly. In this paper, we developed an intelligent cane (IntelliCane) so as to help individuals in their rehabilitation process and provide feedback to the users. The first stage of the paper involves an analysis of the existing systems on the market and what can be improved. The second stage presents the design of the system. The third part, which is still under development is the validation of the system in real world setups with people in need. This paper presents mainly stages one and two.

Keywords: IntelliCane, 3D printing, microprocessor, weight measurement, rehabilitation tool

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Authors: Shirin Jalili, Ramin Ghasemi Shayan

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Coarctation of the aorta (CoA) may be a common (CHD), which is the seventh most common sort of CHD. Still, this is often likely a think little off since the determination may be deferred, indeed within the pediatric populace. The choice for surgical repair incorporates resection of the contracted section with end-to-end or end-to-side anastomosis, subclavian fold aortoplasty, resection, and join the intervention, or prosthetic fix aortoplasty. Drastically expanded end-to-end repair or switched subclavian fold aortoplasty can be utilized when the coarctation expands to the distal arch. Swell angioplasty can be a palliative choice sometime recently the conclusive redress. Its objective is to stabilize high-risk patients that cannot be submitted to quick surgical intercession, such as untimely newborns. For disconnected and discrete coarctations, it can, as a rule, be drawn nearer and repaired by means of cleared out thoracotomy, extraction of the infected aorta (coarctectomy), and remaking, ordinarily by amplified end-to-end anastomosis. In this article, we need to supply a diagram of current proposals and strategies utilized to picture coarctations of the aorta.

Keywords: coarctation of the aorta, congenital heart disease, strategies, surgical repair

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Authors: M. K. Mohd Safee, W. A. B. Wan Abas, F. Ibrahim, N. A. Abu Osman, N. A Abdul Malik

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This paper investigates the activity of the rectus femoris (RF) and biceps femoris (BF) in healthy subjects during salat (prostration) and specific exercise (squat exercise) using electromyography (EMG). A group of undergraduates aged between 19 to 25 years voluntarily participated in this study. The myoelectric activity of the muscles were recorded and analyzed. The finding indicated that there were contractions of the muscles during the salat and exercise with almost same EMG’s level. From the result, Wilcoxon’s Rank Sum test showed significant difference between prostration and squat exercise (p<0.05) but the differences was very small; RF (8.63%MVC) and BF (11.43%MVC). Therefore, salat may be useful in strengthening exercise and also in rehabilitation programs for lower limb activities. This pilot study conducted initial research into the biomechanical responses of human muscles in various positions of salat.

Keywords: electromyography, exercise, muscle, salat

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