Search results for: congenital defects

Authors: Hady Atef, Zinab Helmy, Heba Abdeen, Mostafa Fadel

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Background and purpose: After the success of the first trials of this experiment which were done on rabbits, a new study were conducted on dogs to ensure the past results; in a step forward to use low-level LASER therapy in the treatment of congenital septal defects in infants. The aim of this study was to investigate the effect of low-level LASER irradiation on congenital septal defects in dogs. Subjects and Methodology: six male dogs who have congenital septal defects in their hearts -with age ranged 6-10 months- enrolled in this study for one and half months. They were assigned into two groups: Group (A): The study group consisted of 3 canine hearts who received routine animal care associated with LASER irradiation. Group (B): The control group consisted of 3 canine hearts who received only routine animal care. Sizes of the septal defects were measured for both groups at the beginning and after the end of the study. Results: There was a significant decrease in the size of the diameter of the congenital septal defect with the study group (percentage of improvement was 42.19%) when compared with control group. Conclusion: It was concluded that low-level LASER therapy can be considered as a promising therapy for congenital heart defects in animals and to be examined on children with similar congenital lesions after then.

Keywords: laser, congenital septal defects, dogs, infants

Procedia PDF Downloads 249

Authors: Hady Atef Labib

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Pediatric cardiac rehabilitation has the potential to benefit many children with congenital heart defects (CHD). Instead of excellent surgical results most of children usually present with a depression of physical condition so early rehabilitation program is recommended to avoid that decline in physical tolerance and prevent any post surgical complications. Unfortunately, the limited experience with and availability of these programs has caused the benefits of cardiac rehabilitation to be unavailable to most children with CHD. Therefore, it is recommended to study that field in more detail and apply it on wider scale.

Keywords: pediatric cardiac rehabilitation, congenital heart disease, quality of life, pediatric

Procedia PDF Downloads 342

Authors: S. P. Singh, Shweta Gupta, Kshama Dwivedi, Shivangi Singh

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Aim: To compare the postoperative pupil cosmesis, mydriasis, and anterior chamber depth (ACD) in traumatic and congenital iris defects after Single-Pass Four-Throw pupilloplasty (SFTP). Method: SFTP was performed along with cataract surgery in 6 patients, each of congenital and traumatic iris defects and pupil size, mydriasis, and ACD was compared after three months. Results: SFTP was successful in repairing congenital and traumatic cases except in 1 traumatic case with a large iris defect. Horizontal pupil diameter decreased while ACD increased in both groups and was comparable between the two groups. The traumatic group showed a significant decrease in pupil diameter while there was an insignificant change in the horizontal pupil diameter in the congenital group. Mydriasis was adequate for fundus examination and was comparable between the two groups. The effect of SFTP on ACD was inconclusive due to the confounding effect of cataract surgery. The incidence of iris atrophy was equal in both groups. Conclusion: SFTP results in anatomical and functional restoration in cases of iris defects with no inadvertent effect on mydriasis.

Keywords: anterior chamber depth, mydriasis, pupil cosmesis, single-pass four-throw pupilloplasty

Procedia PDF Downloads 91

Authors: Kan Yu, Khui Hung Lee, Eben Afrifa-Yamoah, Jing Guo, Katrina Harrison, Jack Goldblatt, Nicholas Pachter, Jitian Xiao, Guicheng Brad Zhang

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Background and Significance of the Study: Congenital Heart Defects (CHDs) are the most common malformation at birth and one of the leading causes of infant death. Although the exact etiology remains a significant challenge, epigenetic modifications, such as DNA methylation, are thought to contribute to the pathogenesis of congenital heart defects. At present, no existing DNA methylation biomarkers are used for early detection of CHDs. The existing CHD diagnostic techniques are time-consuming and costly and can only be used to diagnose CHDs after an infant was born. The present study employed a machine learning technique to analyse genome-wide methylation data in children with and without CHDs with the aim to find methylation biomarkers for CHDs. Methods: The Illumina Human Methylation EPIC BeadChip was used to screen the genome‐wide DNA methylation profiles of 24 infants diagnosed with congenital heart defects and 24 healthy infants without congenital heart defects. Primary pre-processing was conducted by using RnBeads and limma packages. The methylation levels of top 600 genes with the lowest p-value were selected and further investigated by using a random forest approach. ROC curves were used to analyse the sensitivity and specificity of each biomarker in both training and test sample sets. The functionalities of selected genes with high sensitivity and specificity were then assessed in molecular processes. Major Findings of the Study: Three genes (MIR663, FGF3, and FAM64A) were identified from both training and validating data by random forests with an average sensitivity and specificity of 85% and 95%. GO analyses for the top 600 genes showed that these putative differentially methylated genes were primarily associated with regulation of lipid metabolic process, protein-containing complex localization, and Notch signalling pathway. The present findings highlight that aberrant DNA methylation may play a significant role in the pathogenesis of congenital heart defects.

Keywords: biomarker, congenital heart defects, DNA methylation, random forest

Procedia PDF Downloads 128

Authors: Seyed Mazyar Mortazavi, Masod Memari, Hasan Ali Ahmadi, Zhaleh Abed

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Introduction: VACTERL association is a rare disorder with various congenital malformations. The aetiology remains unknown. Combination of at least three congenital anomalies of the following criteria is required for diagnosis: vertebral defects, anal atresia, cardiac anomalies, tracheo-esophageal fistula, renal anomalies, and limb defects. Case presentation: The first case was 1-day old male neonate with multiple congenital anomalies was bore from 28 years old mother. The mother had history of pregnancy with lymphocyte therapy. His anomalies included: defects in thoracic and lumbar vertebral, anal atresia, bilateral hydronephrosis, atrial septal defect, and lower limb abnormality. Other anomalies were cryptorchidism and nasal canal narrowing. The second case was born with 32 weeks gestational age from mother with history of pregnancy with lymphocyte therapy. He had thoracic vertebral defect, cardiac anomalies and renal defect. Conclusion: diagnosis based on clinical finding is VACTERL association. Early diagnosis is very important to investigation and treatment of other coexistence anomalies. VACTERL association in mothers with history of pregnancy with lymphocyte therapy has suggested possibly of relationship between VACTERL association and this method of pregnancy.

Keywords: anal atresia, tracheo-esophageal fistula, atrial septal defect, lymphocyte therapy

Procedia PDF Downloads 414

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: Alfred Hasanaj , Ardit Gjeta, Miranda Kullolli

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The approach in analyzing defects on different pipe lines is conducted through Failure Assessment Diagram (FAD). These methods of analyses have further extended in recent years. This approach is used to identify and stress out a solution for the defects which randomly occur with gas pipes such are corrosion defects, gauge defects, and combination of defects where gauge and dents are included. Few of the defects are to be analyzed in this paper where our main focus will be the fracture of cast Iron pipes, elastic-plastic failure and plastic collapse of X52 steel pipes for gas transport. We need to conduct a calculation of probability of the defects in order to predict and avoid such costly defects.

Keywords: defects, failure assessment diagrams, steel pipes, safety factor

Procedia PDF Downloads 414

Authors: Felipe H. Sanders, Bryan A. Edwards, Matthew Fusco, Rod J. Oskouian, R. Shane Tubbs

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Introduction: Sinus pericranii is a rare vascular malformation that connects the intracranial dural sinuses to the extracranial venous drainage system and is caused by either trauma or congenital defects. Although the majority of these vascular structures are due to trauma, some are congenital. Case report: Herein, we report a 5-month-old patient with a very large and fluctuating subcutaneous mass over the occiput and the diagnosis of Crouzon’s syndrome. The child presented with a large midline mass that on imaging, connected to the underlying torcular and was diagnosed as a sinus pericranii. At long-term follow up and without operative intervention, the sinus pericranii resolved. This uncommon relationship is reviewed. Conclusion: Premature closure of posterior fossa sutures as part of Crouzon syndrome can present with large sinus pericranii. Such subcutaneous swellings might resolve spontaneously.

Keywords: congenital, craniosynostosis, pediatric, vascular malformation

Procedia PDF Downloads 175

Authors: Maryam Borjali

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Introduction. Mortality due to noncommunicable diseases has increased in the world today with the advent of demographic shifts, growing age, and lifestyle patterns in the world, which have been affected by economic and social crises. Congenital heart defects are one of the forms of diseases that have raised infant mortality worldwide. e objective of present study was to identify nonmedical determinants related to this abnormality from the mother’s perspectives. Methods. is research was a qualitative study and the data collection method was a semistructured interview with mothers who had children with congenital heart diseases referring to the Shahid Rajaei Heart Hospital in Tehran, Iran. A thematic analysis approach was employed to analyze transcribed documents assisted by MAXQDA Plus version 12. Results. Four general themes and ten subthemes including social contexts (social harms, social interactions, and social necessities), psychological contexts (mood disorders and mental well-being), cultural contexts (unhealthy lifestyle, family culture, and poor parental health behaviors), and environmental contexts (living area and polluted air) were extracted from interviews with mothers of children with congenital heart diseases. Conclusions. Results suggest that factors such as childhood poverty, lack of parental awareness of congenital diseases, lack of proper nutrition and health facilities, education, and lack of medical supervision during pregnancy were most related with the birth of children with congenital heart disease from mothers’ prospective. In this regard, targeted and intersectorial collaborations are proposed to address nonmedical determinants related to the incidence of congenital heart diseases.

Keywords: congenital_cou, cultural, social, platform

Procedia PDF Downloads 66

Authors: W. Wang, Y. Zhang, J. Shuai, Z. Lv

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The interaction between defects has an essential influence on the bearing capacity of pipelines. This work developed the finite element model of pipelines containing adjacent defects, which includes longitudinally aligned, circumferentially aligned, and diagonally aligned defects. The relationships between spacing and geometries of defects and the failure pressure of pipelines, and the interaction between defects are investigated. The results show that the orientation of defects is an influential factor in the failure pressure of the pipeline. The influence of defect spacing on the failure pressure of the pipeline is non-linear, and the relationship presents different trends depending on the orientation of defects. The increase of defect geometry will weaken the failure pressure of the pipeline, and for the interaction between defects, the increase of defect depth will enhance it, and the increase of defect length will weaken it. According to the research on the interaction rule between defects with different orientations, the interacting coefficients under different orientations of defects are compared. It is determined that the diagonally aligned defects with the overlap of longitudinal projections are the most obvious arrangement of interaction between defects, and the limited distance of interaction between defects is proposed.

Keywords: pipeline, adjacent defects, interaction between defects, failure pressure

Procedia PDF Downloads 154

Authors: Maria Lopez-Ibarra, Ana Velazquez-Wong, Lucelli Yañez-Gutierrez, Maria Araujo-Solis, Fabio Salamanca-Gomez, Alfonso Mendez-Tenorio, Haydeé Rosas-Vargas

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Congenital heart diseases (CHD) are the most common congenital abnormalities. These conditions can occur as both an element of distinct chromosomal malformation syndromes or as non-syndromic forms. Their etiology is not fully understood. Genetic variants such copy number variants have been associated with CHD. The aim of our study was to analyze these genomic variants in peripheral blood from Mexican children diagnosed with non-syndromic CHD. We included 16 children with atrial and ventricular septal defects and 5 healthy subjects without heart malformations as controls. To exclude the most common heart disease-associated syndrome alteration, we performed a fluorescence in situ hybridization test to identify the 22q11.2, responsible for congenital heart abnormalities associated with Di-George Syndrome. Then, a microarray based comparative genomic hybridization was used to identify global copy number variants. The identification of copy number variants resulted from the comparison and analysis between our results and data from main genetic variation databases. We identified copy number variants gain in three chromosomes regions from pediatric patients, 4q13.2 (31.25%), 9q34.3 (25%) and 20q13.33 (50%), where several genes associated with cellular, biosynthetic, and metabolic processes are located, UGT2B15, UGT2B17, SNAPC4, SDCCAG3, PMPCA, INPP6E, C9orf163, NOTCH1, C20orf166, and SLCO4A1. In addition, after a hierarchical cluster analysis based on the fluorescence intensity ratios from the comparative genomic hybridization, two congenital heart disease groups were generated corresponding to children with atrial or ventricular septal defects. Further analysis with a larger sample size is needed to corroborate these copy number variants as possible biomarkers to differentiate between heart abnormalities. Interestingly, the 20q13.33 gain was present in 50% of children with these CHD which could suggest that alterations in both coding and non-coding elements within this chromosomal region may play an important role in distinct heart conditions.

Keywords: aCGH, bioinformatics, congenital heart diseases, copy number variants, fluorescence in situ hybridization

Procedia PDF Downloads 258

Authors: Dmitriy Syssoyev, Aslan Seitkamzin, Natalya Lim, Kamilla Mussina, Abduzhappar Gaipov, Dimitri Poddighe, Dinara Galiyeva

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Background: Data on the epidemiology of congenital heart defects (CHD) in Kazakhstan is scarce. Therefore, the aim of this study was to describe the incidence, prevalence and all-cause mortality of patients with CHD in Kazakhstan, using national large-scale registry data from the Unified National Electronic Healthcare System (UNEHS) for the period of 2014-2020. Methods: In this retrospective cohort study, the included data pertained to all patients diagnosed with CHD in Kazakhstan and registered in UNEHS between January 2014 and December 2020. CHD was defined based on International Classification of Diseases 10th Revision (ICD-10) codes Q20-Q26. Incidence, prevalence, and all-cause mortality rates were calculated per 100,000 population. Survival analysis was performed using Cox proportional hazards regression modeling and the Kaplan-Meier method. Results: In total, 66,512 patients were identified. Among them, 59,534 (89.5%) were diagnosed with a single CHD, while 6,978 (10.5%) had more than two CHDs. The median age at diagnosis was 0.08 years (interquartile range (IQR) 0.01 – 0.66) for people with multiple CHD types and 0.39 years (IQR 0.04 – 8.38) for those with a single CHD type. The most common CHD types were atrial septal defect (ASD) and ventricular septal defect (VSD), accounting for 25.8% and 21.2% of single CHD cases, respectively. The most common multiple types of CHD were ASD with VSD (23.4%), ASD with patent ductus arteriosus (PDA) (19.5%), and VSD with PDA (17.7%). The incidence rate of CHD decreased from 64.6 to 47.1 cases per 100,000 population among men and from 68.7 to 42.4 among women. The prevalence rose from 66.1 to 334.1 cases per 100,000 population among men and from 70.8 to 328.7 among women. Mortality rates showed a slight increase from 3.5 to 4.7 deaths per 100,000 in men and from 2.9 to 3.7 in women. Median follow-up was 5.21 years (IQR 2.47 – 11.69). Male sex (HR 1.60, 95% CI 1.45 - 1.77), having multiple CHDs (HR 2.45, 95% CI 2.01 - 2.97), and living in a rural area (HR 1.32, 95% CI 1.19 - 1.47) were associated with a higher risk of all-cause mortality. Conclusion: The incidence of CHD in Kazakhstan has shown a moderate decrease between 2014 and 2020, while prevalence and mortality have increased. Male sex, multiple CHD types, and rural residence were significantly associated with a higher risk of all-cause mortality.

Keywords: congenital heart defects (CHD), epidemiology, incidence, Kazakhstan, mortality, prevalence

Procedia PDF Downloads 46

Authors: Maria Lucia G. Lourenco, Keylla H. N. P. Pereira, Viviane Y. Hibaru, Fabiana F. Souza, Joao C. P. Ferreira, Simone B. Chiacchio, Luiz H. A. Machado

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Congenital malformations are organ defects due to genetic or teratogenic causes, which can lead to high mortality in dog litters. This study assessed and described the congenital malformations in newborn dogs. The study included litters attend in the São Paulo State University (UNESP) Veterinary Hospital, Botucatu, Sao Paulo, Brazil. One hundred seventy-eight litters and 803 newborns were evaluated. The occurrence of litters with malformations was 24.7%, and of newborns was 6.7%. Twenty-seven different malformations were registered: anasarca, anal atresia, cleft lip, cleft palate, duplicated right ribcage, equinovarus, exencephaly, gastroschisis, hydrocephaly, lissencephaly, macroglossia, microphthalmia, mitral valve dysplasia, omphalocele, eyelid agenesis, persistent urachus, polydactyly, pulmonary hypoplasia, pulmonary valve stenosis, rectovaginal fistula, agenesis of abdominal muscles, rib hypoplasia, scoliosis, segmental aplasia of the intestines, tricuspid valve dysplasia, unilateral kidney agenesis, and vaginal atresia. 68.7% of newborns died as a result of malformations. The pure breeds with the highest chances of manifesting malformations in contrast with mixed breeds were French Bulldog, Pug, English Bulldog, Rottweiler, German Spitz, Pinscher, Pitbull, Yorkshire Terrier, and Shih-Tzu. Significant values (P<0.05) occurred in races French Bulldogs and Pugs. The causes of congenital disabilities are possibly related to hereditary genetic factors considering that the highest incidence of malformations was observed among purebreds. There as one case of exposure to a teratogenic agent, but no other mothers were exposed to such agents during pregnancy. Two cases of consanguineal breeding between siblings were reported. The mortality rate was high. Genetic breeding programs for reproduction, avoiding consanguineous mating, care in choosing parents, and avoiding maternal exposure to teratogenic agents are of utmost importance in reducing dog malformations and consequent mortality.

Keywords: congenital defects, teratogenesis, canine neonatology, newborn puppy

Procedia PDF Downloads 105

Authors: Waseem Al Talalwah, Shorok Al Dorazi, Roger Soames

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Persistent sciatic artery is a rare anatomical vascular variation resulting from a lack of regression of the embryonic dorsal axial artery. The axial artery is the main artery supplying the lower limb during development in the first trimester. The current research includes 206 sciatic artery cases in 171 patients between 1864 and 2012. It aims to identify the risk factor of sciatic artery aneurysm in congenital limb anomalies. Sciatic artery aneurysm was diagnosed incidentally in amniotic band syndrome (ABS) existing with no congenital anomaly in 0.7% or with double knee in 0.7%, with the tibia in 0.7% and with hemihypertrophy or soft tissue hypertrophy in 1.4%. Therefore, the current study indicates a relationship the same gene responsible for the congenital limb deformities may be responsible for non-regression of the sciatic artery. Furthermore, pediatricians should refer cases of congenital limb anomalies for vascular evaluation prior to corrective surgical intervention.

Keywords: amniotic band syndrome, congenital limb deformities, double knee, sciatic artery, sciatic artery aneurysm , soft tissue hypertrophy

Procedia PDF Downloads 336

Authors: Priscilla Akua Agyapong

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Background: In a country of nearly 34 million people, Ghana suffers from rapidly growing pediatric CHD cases and not enough pediatric specialists to attend to the burgeoning needs of these children. Most of the cases are either missed or diagnosed late, resulting in increased mortality. According to the National Cardiothoracic Centre, 1 in every 100,000 births in Ghana has CHD; however, there is limited data on the clinical presentation and its management, one of the many reasons I decided to do this case study coupled with the loss my 2 month old niece to multiple Ventricular Septal Defect 3 years ago due late diagnoses. Method: A retrospective cohort study was performed at the child health clinic of one of Ghana’s public tertiary Institutions using data from their electronic health record (EHR) from February 2021 to April 2022. All suspected or provisionally diagnosed cases were included in the analysis. Results: Records of over 3000 children were reviewed with an approximate male to female ratio of 1:1.53 cases diagnosed during the period of study, most of whom were less than 5 years of age. 25 cases had complete clinical records, with acyanotic septal defects being the most diagnosed. 62.5% of the cases were ventricular septal defects, followed by Patent Ductus Arteriosus (23%) and Atrial Septal Defects (4.5%). Tetralogy of Fallot was the most predominant and complex cyanotic CHD with 10%. Conclusion: The indeterminate coronary anatomy of infants makes it difficult to use only echocardiography and other conventional clinical methods in screening for CHDs. There are rising modernizations and new innovative ways that can be employed in Ghana for early detection, hence preventing the delay of a potential surgical repair. It is, therefore, imperative to create the needed awareness about these “SILENT CRISES” and help save the Ghanaian child’s life.

Keywords: congenital heart defect(CHD), ventricular septal defect(VSD), atrial septal defect(ASD), patent ductus arteriosus(PDA)

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Authors: Maria C. Proença, Marco Aniceto, Pedro N. Santos, José C. Freitas

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A methodology based on wavelets is proposed for the automatic location and delimitation of defects in limestone plates. Natural defects include dark colored spots, crystal zones trapped in the stone, areas of abnormal contrast colors, cracks or fracture lines, and fossil patterns. Although some of these may or may not be considered as defects according to the intended use of the plate, the goal is to pair each stone with a map of defects that can be overlaid on a computer display. These layers of defects constitute a database that will allow the preliminary selection of matching tiles of a particular variety, with specific dimensions, for a requirement of N square meters, to be done on a desktop computer rather than by a two-hour search in the storage park, with human operators manipulating stone plates as large as 3 m x 2 m, weighing about one ton. Accident risks and work times are reduced, with a consequent increase in productivity. The base for the algorithm is wavelet decomposition executed in two instances of the original image, to detect both hypotheses – dark and clear defects. The existence and/or size of these defects are the gauge to classify the quality grade of the stone products. The tuning of parameters that are possible in the framework of the wavelets corresponds to different levels of accuracy in the drawing of the contours and selection of the defects size, which allows for the use of the map of defects to cut a selected stone into tiles with minimum waste, according the dimension of defects allowed.

Keywords: automatic detection, defects, fracture lines, wavelets

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Authors: Rafael Ricieri, Rogerio Barros, Francisco Clovis

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Objective– The Objective of this is study is to report a rare case of dermoid cyst, with a sublingual location and cutaneous fistula in a 4 year-old child.Methods: This study is a case report. The main study instrument was the medical record and the radiological and intraoperative image bank. Results: Infants with congenital cervical lesions eventually need tomography for diagnostic elucidation, and health services should be structured to perform sedation and thin tomographic sections in order to reduce morbidity.

Keywords: congenital, sublingual dermoid cyst, fistula, pediatric surgery, head and kneck surgery

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Authors: Abdul Sattar Jamali, Imdad Ali Memon, Maqsood Ahmed Memon

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Quality of production near to zero defects is an objective of every manufacturing and service organization. In order to maintain and improve the quality by reduction in defects, Statistical tools are being used by any organizations. There are many statistical tools are available to assess the quality. Keeping in view the importance of many statistical tools, traditional 7QC tools has been used in any manufacturing and automobile Industry. Therefore, the 7QC tools have been successfully applied at one of the Automobile Company Pakistan. Preliminary survey has been done for the implementation of 7QC tool in the assembly line of Automobile Industry. During preliminary survey two inspection points were decided to collect the data, which are Chassis line and trim line. The data for defects at Chassis line and trim line were collected for reduction in defects which ultimately improve productivity. Every 7QC tools has its benefits observed from the results. The flow charts developed for better understanding about inspection point for data collection. The check sheets developed for helps for defects data collection. Histogram represents the severity level of defects. Pareto charts show the cumulative effect of defects. The Cause and Effect diagrams developed for finding the root causes of each defects. Scatter diagram developed the relation of defects increasing or decreasing. The P-Control charts developed for showing out of control points beyond the limits for corrective actions. The successful implementation of 7QC tools at the inspection points at Automobile Industry concluded that the considerable amount of reduction on defects level, as in Chassis line from 132 defects to 13 defects. The total 90% defects were reduced in Chassis Line. In Trim line defects were reduced from 157 defects to 28 defects. The total 82% defects were reduced in Trim Line. As the Automobile Company exercised only few of the 7 QC tools, not fully getting the fruits by the application of 7 QC tools. Therefore, it is suggested the company may need to manage a mechanism for the application of 7 QC tools at every section.

Keywords: check sheet, cause and effect diagram, control chart, histogram

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Authors: Vallejo Michael, Acuña Edgar, Roa Juan David, Peñuela Rosa, Parra Alejandra, Casallas Daniela, Rodriguez Sheyla

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Congenital Zika Virus Syndrome is an entity composed by a variety of birth defects presented in newborns that have been exposed to the Zika Virus during pregnancy. The syndrome characteristic features are severe microcephaly, cerebral tissue abnormalities, ophthalmological abnormalities such as uveitis and chorioretinitis, arthrogryposis, clubfoot deformity and muscular tone abnormalities. The confirmatory test is the Reverse transcription polymerase chain reaction (RT-PCR) associated to the physical findings. Here we present the case of a newborn with microcephaly whose mother presented a confirmed Zika Virus infection during the third trimester of pregnancy, despite of the evident findings and the history of Zika infection the RT-PCR in amniotic and cerebrospinal fluid of the newborn was negative. RT-PCR has demonstrated a low sensibility in samples with low viral loads, reason why, we propose a clinical diagnosis in patients with clinical history of Zika Virus infection during pregnancy accompanied by evident clinical manifestations of the child.

Keywords: congenital, Zika virus, microcephaly, reverse transcriptase polymerase chain reaction

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Authors: Adel El-Hadidy

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For any industry, the production and quality management or wastages reductions have major impingement on overall factory economy. This work discusses the quality improvement of garment industry by applying Pareto analysis, cause and effect diagram and Taguchi experimental design. The main purpose of the work is to reduce the stitching defects, which will also minimize the rejection and reworks rate. Application of Pareto chart, fish bone diagram and Process Sigma Level/and or Performance Level tools helps solving those problems on priority basis. Among all, only sewing, defects are responsible form 69.3% to 97.3 % of total defects. Process Sigma level has been improved from 0.79 to 1.3 and performance rate improved, from F to D level. The results showed that the new set of sewing parameters was superior to the original one. It can be seen that fabric size has the largest effect on the sewing defects and that needle size has the smallest effect on the stitching defects.

Keywords: garment, sewing defects, cost of rework, DMAIC, sigma level, cause and effect diagram, Pareto analysis

Procedia PDF Downloads 138

Authors: Koteswara Rao Pagolu, Raghava Rao Tamanam

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The present study was aimed to find out the prevalence of DD's in Visakhapatnam, one of the north coastal districts of Andhra Pradesh, India during a span of five years. A cross-sectional investigation was held at District early intervention center (DEIC), Visakhapatnam from 2016 to 2020. To identify the pattern and trend of different DD's including seasonal variations, a retrospective analysis of the health center's inpatient database for the past 5 years was done. Male and female children aged 2 months-18 years are included in the study with the prior permission of the concerned medical officer. The screening tool developed by the Ministry of health and family welfare, India, was used for the study. Among 26,423 cases, children with birth defects are 962, 2229 with deficiencies, 7516 with diseases, and 15716 with disabilities were admitted during the study period. From birth defects, congenital deafness occurred in large numbers with 22.66%, and neural tube defect observed in a small number of cases with 0.83% during the period. From the side of deficiencies, severe acute malnutrition has mostly occurred (66.80 %) and a small number of children were affected with goiter (1.70%). Among the diseases, dental carriers (67.97%) are mostly found and these cases were at peak during the years 2016 and 2019. From disabilities, children with vision impairment (20.55%) have mostly approached the center. Over the past 5 years, the admission rate of down's syndrome and congenital deafness cases showed a rising trend up to 2019 and then declined. Hearing impairment, motor delay, and learning disorder showed a steep rise and gradual decline trend, whereas severe anemia, vitamin-D deficiency, otitis media, reactive airway disease, and attention deficit hyperactivity disorder showed a declining trend. However, congenital heart diseases, dental caries, and vision impairment admission rates showed a zigzag pattern over the past 5 years. This center had inadequate diagnostic facilities related to genetic disease management. For advanced confirmation, the cases are referred to a district government hospital or private diagnostic laboratories in the city for genetic tests. Information regarding the overall burden and pattern of admissions in the health center is obtained by the review of DEIC records. Through this study, it is observed that the incidence of birth defects, as well as genetic disease burden, is high in the Visakhapatnam district. Hence there is a need for strengthening of management services for these diseases in this region.

Keywords: child health screening, developmental delays, district early intervention center, genetic disease management, infrastructural facility, Visakhapatnam district

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Authors: Abdullah Almusharraf, Andrew Whyte

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The sub-task pattern in terms of the deviations and defects should be identified and understand in order to improve the quality practices in construction projects. Therefore, the sub-task susceptibility to exposure to deviations and defects have been evaluated and classified via six classifications that have proposed in this study. 34 case studies on specific sub-task (from compression member in construction concrete structure) have been collected from seven construction projects in order to examined study’s classifications. The study revealed that the sub-task has high sensitive to deviation where (91%) of the cases recorded as deviations, however, only (19%) of cases recorded as defects. Another findings were that the actual work during the execution process has high source of deviation for this sub-task (74%) while only (26%) of the deviation source was due to both design documentations with the actual work. These findings significantly imply that it could be used the study’s classifications to determine the pattern of each sub-task and develop the proactive actions to overcome issues of the sub-task deviations and defects.

Keywords: sub-tasks, deviations, defects, quality, construction projects

Procedia PDF Downloads 404

Authors: Judith Correa-Gomez, Cristina Garcia-De la Pena, Veronica Avila-Rodriguez, David R. Aguillon-Gutierrez

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Kemp's ridley (Lepidochelys kempii) is the smallest species of sea turtle. It nests on the beaches of the Gulf of Mexico during summer. To date, there is no information about congenital anomalies in this species, which could be an important factor to be considered as a survival threat. The aim of this study was to determine congenital anomalies in dead embryos and hatchlings of Kemp's ridley sea turtle during 2020 nesting season. Fieldwork was conducted at the 'Campamento Tortugero Barra Norte', on the shores of Tuxpan, Veracruz, Mexico. A total of 95 nests were evaluated, from which 223 dead embryos and hatchlings were collected. Anomalies were detected by detailed physical examinations. Photographs of each anomaly were taken. From the 223 dead turtles, 213 (95%) showed a congenital anomaly. A total of 53 types of congenital anomalies were found: 22 types on the head region, 21 on the carapace region, 6 on the flipper region, and 4 regarding the entire body. The most prevalent anomaly in the head region was the presence of prefrontal supernumerary scales (42%, 93 occurrences). On the carapace region, the most common anomaly was the presence of supernumerary gular scales (59%, 131 occurrences). The two most common anomalies on the flipper region were amelia in fore flippers and rear bifurcation of flippers (0.9%, 2 occurrences each). The most common anomaly involving the entire body was hypomelanism (35%, 79 occurrences). These results agree with the recent studies on congenital malformations on sea turtles, being the head and the carapace regions the ones with the highest number of congenital anomalies. It is unknown whether the reported anomalies can be related to the death of these individuals. However, it is necessary to develop embryological studies in this species. To our best knowledge, this is the first worldwide report on Kemp’s ridley sea turtle anomalies.

Keywords: Amelia, hypomelanism, morphology, supernumerary scales

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Authors: Bachir Kacimi, Fatiha Teklal, Arezki Djebbar

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Forming processes induce residual deformations on the reinforcement and sometimes lead to mesoscopic defects, which are more recurrent than macroscopic defects during the manufacture of complex structural parts. This study deals with the influence of the fabric shear and buckles defects, which appear during draping processes of composite, on the impact behavior of a glass fiber reinforced polymer. To achieve this aim, we produced several specimens with different amplitude of deformations (shear) and defects on the fabric using a specific bench. The specimens were manufactured using the contact molding and tested with several impact energies. The results and measurements made on tested specimens were compared to those of the healthy material. The results showed that the buckle defects have a negative effect on elastic parameters and revealed a larger damage with significant out-of-plane mode relatively to the healthy composite material. This effect is the consequence of a local fiber impoverishment and a disorganization of the fibrous network, with a reorientation of the fibers following the out-of-plane buckling of the yarns, in the area where the defects are located. For the material with calibrated shear of the reinforcement, the increased local fiber rate due to the shear deformations and the contribution to stiffness of the transverse yarns led to an increase in mechanical properties.

Keywords: Defects, Forming, Impact, Induced properties, Textiles

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Authors: Habib Onsori, Somayeh Akrami, Mohammad Rahmati

Abstract:

Deafness is the most common sensory disorder with the frequency of 1/1000 in many populations. Mutations in the GJB2 (CX26) gene at the DFNB1 locus on chromosome 13q12 are associated with congenital hearing loss. Approximately 80% of congenital hearing loss cases are recessively inherited and 15% dominantly inherited. Mutations of the GJB2 gene, encoding gap junction protein Connexin 26 (Cx26), are the most common cause of hereditary congenital hearing loss in many countries. This report presents two cases of different mutations from Iranian patients with bilateral hearing loss. DNA studies were performed for the GJB2 gene by PCR and sequencing methods. In one of them, direct sequencing of the gene showed a heterozygous T→C transition at nucleotide 604 resulting in a cysteine to arginine amino acid substitution at codon 202 (C202R) in the fourth extracellular domain (TM4) of the protein. The analyses indicate that the C202R mutation appeared de novo in the proband with a possible dominant effect (GenBank: KF 638275). In the other one, DNA sequencing revealed a compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL). So screening the mutations for hearing loss individuals referring to genetics counseling centers before marriage and or pregnancy is recommended.

Keywords: CX26, deafness, GJB2, mutation

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Authors: A. Albar, D. B. Granato, U. Schwingenschlogl

Abstract:

Tin monoxide (SnO) has promising properties to be applied as a p-type semiconductor in transparent electronics. To this end, it is necessary to understand the behavior of defects in order to control them. We use density functional theory to study native defects of SnO under tensile and compressive strain. We show that Sn vacancies are more stable under tension and less stable under compression, irrespectively of the charge state. In contrast, O vacancies behave differently for different charge. It turns out that the most stable defect under compression is the +1 charged O vacancy in a Sn-rich environment and the charge neutral O interstitial in an O-rich environment. Therefore, compression can be used to transform SnO from an n-type into un-doped semiconductor.

Keywords: native defects, ab-initio, point defect, tension, compression, semiconductor

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Authors: P. Selyshchev

Abstract:

We consider fluctuations of defects density taking into account their interaction. Stochastic field of displacement generation rate gives random defect distribution. We determinate statistical characteristics (mean and dispersion) of random field of point defect distribution as function of defect generation parameters, temperature and properties of irradiated crystal.

Keywords: irradiation, primary defects, interaction, fluctuations

Procedia PDF Downloads 298

Authors: D. Estrella, A. Silva, R. Zapata, H. Rubio

Abstract:

A total of 100 primary caregivers (mothers, fathers, grandparents) with at least one child or grandchild with a diagnosis of congenital bilateral profound deafness were assessed in order to evaluate the functionality of families with a deaf member, who was evaluated by specialists in audiology, molecular biology, genetics and psychology. After confirmation of the clinical diagnosis, DNA from the patients and parents were analyzed in search of the 35delG deletion of the GJB2 gene to determine who possessed the mutation. All primary caregivers were provided psychological support, regardless of whether or not they had the mutation, and prior and subsequent, the family APGAR test was applied. All parents, grandparents were informed of the results of the genetic analysis during the psychological intervention. The family APGAR, after psychological and genetic counseling, showed that 14% perceived their families as functional, 62% moderately functional and 24% dysfunctional. This shows the importance of psychological support in family functionality that has a direct impact on the quality of life of these families.

Keywords: deafness, psychological support, family, adaptation to disability

Procedia PDF Downloads 395

Authors: T. Hopkin, S. Lu, P. Rogers, M. Sexton

Abstract:

Housing Associations (HAs) contribute circa 20% of the UK’s housing supply. HAs are however under increasing pressure as a result of funding cuts and rent reductions. Due to the increased pressure, a number of processes are currently being reviewed by HAs, especially how they manage and learn from defects. Learning from defects is considered a useful approach to achieving defect reduction within the UK housebuilding industry. This paper contributes to our understanding of how HAs learn from defects by undertaking an initial round table discussion with key HA stakeholders as part of an ongoing collaborative research project with the National House Building Council (NHBC) to better understand how house builders and HAs learn from defects to reduce their prevalence. The initial discussion shows that defect information runs through a number of groups, both internal and external of a HA during both the defects management process and organizational learning (OL) process. Furthermore, HAs are reliant on capturing and recording defect data as the foundation for the OL process. During the OL process defect data analysis is the primary enabler to recognizing a need for a change to organizational routines. When a need for change has been recognized, new options are typically pursued to design out defects via updates to a HAs Employer’s Requirements. Proposed solutions are selected by a review board and committed to organizational routine. After implementing a change, both structured and unstructured feedback is sought to establish the change’s success. The findings from the HA discussion demonstrates that OL can achieve defect reduction within the house building sector in the UK. The paper concludes by outlining a potential ‘learning from defects model’ for the housebuilding industry as well as describing future work.

Keywords: defects, new homes, housing association, organizational learning

Procedia PDF Downloads 288

Authors: S. Shankar Bharathi

Abstract:

Inspection of surface defects on metallic components has always been challenging due to its specular property. Occurrences of defects such as scratches, rust, pitting are very common in metallic surfaces during the manufacturing process. These defects if unchecked can hamper the performance and reduce the life time of such component. Many of the conventional image processing algorithms in detecting the surface defects generally involve segmentation techniques, based on thresholding, edge detection, watershed segmentation and textural segmentation. They later employ other suitable algorithms based on morphology, region growing, shape analysis, neural networks for classification purpose. In this paper the work has been focused only towards detecting scratches. Global and other thresholding techniques were used to extract the defects, but it proved to be inaccurate in extracting the defects alone. However, this paper does not focus on comparison of different segmentation techniques, but rather describes a novel approach towards segmentation combined with hausdorff dilation distance. The proposed algorithm is based on the distribution of the intensity levels, that is, whether a certain gray level is concentrated or evenly distributed. The algorithm is based on extraction of such concentrated pixels. Defective images showed higher level of concentration of some gray level, whereas in non-defective image, there seemed to be no concentration, but were evenly distributed. This formed the basis in detecting the defects in the proposed algorithm. Hausdorff dilation distance based on mathematical morphology was used to strengthen the segmentation of the defects.

Keywords: metallic surface, scratches, segmentation, hausdorff dilation distance, machine vision

Procedia PDF Downloads 384