Search results for: congenital diaphragmatic hernia study group

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

Procedia PDF Downloads 459

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

Abstract:

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 177

Authors: Aniruddha Kulkarni

Abstract:

In very few cases of external hernias we require imaging modalities as on most occasions clinical examination tests are good enough. Ultrasound will help in chronic abdominal or groin pain, equivocal clinical results & complicated hernias. Ultrasound is useful in assessment of cause of raised intrabdominal pressure. In certain cases will comment about etiology, complications and chronicicty of lesion. Screening of rest of abdominal organs too is important advantage being real time modality. Cost effectiveness, no radiation allows modality be used repeatedly in indicated cases. Sonography is better accepted by patients too as it is cost effective. Best advanced tissue harmonic equipment and increasing expertise making it popular. Ultrasound can define surgical anatomy, rent size, contents, etiological /recurrence factors in great detail and with authority hence accidental findings in a planned surgical procedure can be easily avoided. Clinical dynamic valselva and reducibility test can better documented by real time ultrasound study. In case of recurrence, Sonography will help in assessing the hernia details better as being dynamic real time investigation. Ultrasound signs in case of internal hernias are well comparable with CT findings.

Keywords: laparoscopic repair, Hernia, CT findings, chronic pain

Procedia PDF Downloads 471

Authors: Mustafa Gulsen, Mitat Koz

Abstract:

The aim of this study is to investigate the effect of lumbar stabilisation and proprioceptive neuromuscular facilitation (PNF) training on muscle strength and muscle endurance. The participants were 64 between the ages of 15-69 (53.04 ± 14.59), who were graded protrusion and bulging lumbar herniation according to 'Macnab Classification'. The participants were divided into four groups as each group had 16 participants: lumbar stabilitation training, PNF training, physical therapy and control groups. Sociodemographic features were recorded. Then their muscle strength tests (by isokinetic dynamometer (Cybex 770 Norm Lumex Inc, Ronkonkoma, NY, USA) were recorded. Before and after applications; visual analogue scale (VAS), Oswestry Disability İndex were applied by a physical therapist. The participants in lumbar stabilisation group performed 45 minutes, 5 days in a week for 4 weeks strength training with a physical therapist observation. The participants in PNF group performed 5 days in a week for 4 weeks with pelvic patterns of PNF by a physiotherapist. The participants in physical therapy group underwent Hotpack, Tens and Ultrasound therapy 5 days in a week for 4 weeks. The participants in control group didn’t take any training programme. After 4 weeks, the evaluations were repeated. There were significant increases in muscle strength and muscle endurance in lumbar stabilization training group. Also in pain intensity at rest and during activity in this group and in Oswestry disability index of patients, there were significant improvements (p < 0.05). In PNF training group likewise, there were significant improvements in muscle strength, muscle endurance, pain intensity at rest and with activity and in Oswestry disability index (p < 0.05). But improvements in the Lumbar Stabilization group was better than PNF Group. We found significant differences only in pain intensity at rest and with activity and in Oswestry disability index (p < 0.05). in the patients in Physical Therapy group. We think that appropriate physiotherapy and rehabilitation program which will be prepared for patients, to protect the waist circumference of patients with low muscle strength and low muscle endurance will increase muscle strength and muscle endurance. And it is expected that will reduce pain and will provide advances toward correcting functional disability of the patients.

Keywords: disc herniation, endurance, lumbar stabilitation exercises, PNF, strength

Procedia PDF Downloads 252

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 400

Authors: Teagan Fink, Lynn Chong, Michael Hii, Brett Knowles

Abstract:

Background: Telemedicine is a rapidly advancing field providing healthcare to patients at a distance from their treating clinician. There is a paucity of high-quality evidence detailing the safety and acceptability of telemedicine for postoperative outpatient follow-up. This randomized controlled trial – conducted prior to the COVID 19 pandemic – aimed to assess patient satisfaction and safety (as determined by readmission, reoperation and complication rates) of telephone compared to face-to-face clinic follow-up after uncomplicated general surgical procedures. Methods: Patients following uncomplicated laparoscopic appendicectomy or cholecystectomy and laparoscopic or open umbilical or inguinal hernia repairs were randomized to a telephone or face-to-face outpatient clinic follow-up. Data points including patient demographics, perioperative details and postoperative outcomes (eg. wound healing complications, pain scores, unplanned readmission to hospital and return to daily activities) were compared between groups. Patients also completed a Likert patient satisfaction survey following their consultation. Results: 103 patients were recruited over a 12-month period (21 laparoscopic appendicectomies, 65 laparoscopic cholecystectomies, nine open umbilical hernia repairs, six laparoscopic inguinal hernia repairs and two laparoscopic umbilical hernia repairs). Baseline patient demographics and operative interventions were the same in both groups. Patient or clinician-reported concerns on postoperative pain, use of analgesia, wound healing complications and return to daily activities at clinic follow-up were not significantly different between the two groups. Of the 58 patients randomized to the telemedicine arm, 40% reported high and 60% reported very high patient satisfaction. Telemedicine clinic mean consultation times were significantly shorter than face-to-face consultation times (telemedicine 10.3 +/- 7.2 minutes, face-to-face 19.2 +/- 23.8 minutes, p-value = 0.014). Rates of failing to attend clinic were not significantly different (telemedicine 3%, control 6%). There was no increased rate of postoperative complications in patients followed up by telemedicine compared to in-person. There were no unplanned readmissions, return to theatre, or mortalities in this study. Conclusion: Telemedicine follow-up of patients undergoing uncomplicated general surgery is safe and does not result in any missed diagnosis or higher rates of complications. Telemedicine provides high patient satisfaction and steps to implement this modality in inpatient care should be undertaken.

Keywords: general surgery, telemedicine, patient satisfaction, patient safety

Procedia PDF Downloads 96

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

Abstract:

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 261

Authors: A. Uludağ, F. G. Tufekci, N. Ceviz

Abstract:

Aim: The research has been carried out in order to evaluate caregiver burden, life satisfaction and received social support level of the parents whose children have congenital heart disease; to examine the relationship between the social supports received by them and caregiver burden and life satisfaction. Material and Method: The research which is descriptive and which is searching a relationship has been carried out between the dates June 7, 2012- June 30, 2014, in Erzurum Ataturk University Research and Application Hospital, Department of Pediatrics and Children Cardiology Polyclinic. In the research, it was collaborated with the parents (N = 157) who accepted to participate in, of children who were between the ages of 3 months- 12 years. While gathering the data, a questionnaire, Zarit Caregiver Burden, Life Satisfaction and Social Support Scales have been used. The statistics of the data acquired has been produced by using percentage distribution, mean, and variance and correlation analysis. Ethical principles are followed in the research. Results: In the research, caregiver burden, life satisfaction and social support level received from family (p < 0.05), have been determined higher in the parents whose children have serious congenital heart disease than that of parents whose children have slight disease and social support received from friends has been found lower. It has been determined that there is a strong relation (p < 0.001) through negative direction between both social support levels and caregiver burden of parents; and that there is a strong relation (p < 0.001) through positive direction between both support levels and life satisfaction. Conclusion: That Social Support is in a strong relation with Caregiver Burden through a negative direction and a strong relation with Life Satisfaction through positive direction in parents of all the children who have congenital heart disease requires social support systems to be reinforced. Parents can be led or guided so as to prompt social support systems more.

Keywords: congenital heart disease, child, parents, caregiver burden, life satisfaction, social support

Procedia PDF Downloads 274

Authors: Marta Kozuń, Krystian Toczewski, Sylwester Gerus, Justyna Wolicka, Kamila Boberek, Jarosław Filipiak, Dariusz Patkowski

Abstract:

Long gap esophageal atresia is a congenital defect and is a challenge for pediatric surgeons all over the world. There are different surgical techniques in use to treat atresia. One of them is esophageal elongation but the optimal suture placement technique to achieve maximum elongation with low-risk complications is still unknown. The aim of the study was to characterize the process of esophageal elongation from the biomechanical point of view. Esophagi of white Pekin Duck was used as a model based on the size of this animal which is similar to a newborn (2.5-4kg). The specimens were divided into two groups: the control group (CG) and the group with sutures (SG). The esophagi of the control group were mounted in the grips of the MTS Tytron 250 testing machine and tensile test until rupture was performed. The loading speed during the test was 10mm/min. Then the SG group was tested. Each esophagus was cut into two equal parts and that were fused together using surgical sutures. The distance between both esophagus parts was 20mm. Ten both ends were mounted on the same testing machine and the tensile test with the same parameters was conducted. For all specimens, force and elongation were recorded. The biomechanical properties, i.e., the maximal force and maximal elongation, were determined on the basis of force-elongation curves. The maximal elongation was determined at the point of maximal force. The force achieved with the suture group was 10.1N±1.9N and 50.3N±11.6N for the control group. The highest elongation was also obtained for the control group: 18mm±3mm vs. 13.5mm ±2.4mm for the suture group. The presented study expands the knowledge of elongation of esophagi. It is worth emphasizing that the duck esophagus differs from the esophagus of a newborn, i.e., its wall lacks striated muscle cells. This is why the parts of animal esophagi used in the research are may characterized by different biomechanical properties in comparison with newborn tissue.

Keywords: long gap atresia treatment, esophageal elongation, biomechanical properties, soft tissue

Procedia PDF Downloads 72

Authors: Ardiana Murtezani, Ilirijana Dallku, Teuta Osmani Vllasolli, Sabit Sllamniku

Abstract:

Background: The use of foot orthoses are always indicated when there are alterations of the optimal biomechanics' position of the foot. Orthotics are very effective and very suitable for the majority of patients with pain due to overload which can be related to biomechanical disorders. Aim: To assess the frequency of patients requiring foot orthoses, type of orthoses and analysis of their disease leading to the use of foot orthoses. Material and Methods: Our study included 128 patients with various foot pathologies, treated at the outpatient department of the Ortho-Prosthetic Center of Kosovo (OPCK) in Prishtina. Prospective-descriptive clinical method was used during this study. Functional status of patients was examined, and the following parameters are noted: range of motion measurements for the affected joints/lower extremities, manual test for muscular strength below the knee and foot of the affected extremity, perimeter measurements of the lower extremities, measurements of lower extremities, foot length measurement, foot width measurements and size. In order to complete the measurements the following instruments are used: plantogram, pedogram, meter and cork shoe lift appliances. Results: The majority of subjects in this study are male (60.2% vs. 39.8%), and the dominant age group was 0-9 (47.7%), 61 subjects respectively. Most frequent foot disorders were: congenital disease 60.1%, trauma cases 13.3%, consequences from rheumatologic disease 12.5%, neurologic dysfunctions 11.7%, and the less frequented are the infectious cases 1.6%. Congenital anomalies were the most frequent cases, and from this group majority of cases suffered from pes planovalgus (37.5%), eqinovarus (15.6%) and discrepancies between extremities (6.3%). Furthermore, traumatic amputations (2.3%) and arthritis (0.8%). As far as neurologic disease, subjects with cerebral palsy are represented with (3.1%), peroneal nerve palsy (2.3%) and hemiparesis (1.6%). Infectious disease osteomyelitis sequels are represented with (1.6%). Conclusion: Based on our study results, we have concluded that the use of foot orthoses for patients suffering from rheumatoid arthritis and nonspecific arthropaty was effective treatment choice, leading to decrease of pain, less deformities and improves the quality of life.

Keywords: orthoses, epidemiological analysis, rheumatoid arthritis, rehabilitation

Procedia PDF Downloads 205

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

Abstract:

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 108

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

Abstract:

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

Procedia PDF Downloads 100

Authors: Saidasanov Saidazal Shokhmurodovich, Topolnickiy Orest Zinovyevich, Afaunova Olga Arturovna

Abstract:

Relevance: Bilateral congenital cleft is one of the most complex forms of all clefts, which makes it difficult to choose a surgical method of treatment. During primary operations to close the hard and soft palate, there is a shortage of soft tissues and their lack during standard uranoplasty, and these factors aggravate the period of rehabilitation of patients. Materials and methods: The results of surgical treatment of children with bilateral cleft, who underwent uranoplasty using a flap from the tongue, were analyzed. The study used methods: clinical and statistical, which allowed us to solve the tasks, based on the principles of evidence-based medicine. Results and discussion: in our study, 15 patients were studied, who underwent surgical treatment in the following volume: uranoplasty using a flap from the tongue in two stages. Of these, 9 boys and 6 girls aged 2.5 to 6 years. The first stage was surgical treatment in the volume: veloplasty. The second stage was a surgical intervention in volume: uranoplasty using a flap from the tongue. In all patients, the width of the cleft ranged from 1.6-2.8 cm. All patients in this group were orthodontically prepared. Using this method, the surgeon can achieve the following results: maximum narrowing of the palatopharyngeal ring, long soft palate, complete closure of the hard palate, alveolar process, and the mucous membrane of the nasal cavity is also sutured, which creates good conditions for the next stage of osteoplastic surgery. Based on the result obtained, patients have positive results of working with a speech therapist. In all patients, the dynamics were positive without complications. Conclusions: Based on our observation, tongue flap uranoplasty is one of the effective techniques for patients with wide clefts of the hard and soft palate. The use of a flap from the tongue makes it possible to reduce the number of repeated reoperations and improve the quality of social adaptation of this group of patients, which is one of the important stages of rehabilitation. Upon completion of the stages of rehabilitation, all patients had the maximum improvement in functional, anatomical and social indicators.

Keywords: congenital cleft lips and palate, bilateral cleft, child surgery, maxillofacial surgery

Procedia PDF Downloads 92

Authors: Siyu Wang, Anthony Ward

Abstract:

Emotional intelligence (EI) is a well-established personal characteristic. It has been viewed as a critical factor which can influence an individual's academic achievement, ability to work and potential to succeed. When working in a group, EI is fundamentally connected to the group members' interaction and ability to work as a team. The ability of a group member to intelligently perceive and understand own emotions (Intrapersonal EI), to intelligently perceive and understand other members' emotions (Interpersonal EI), and to intelligently perceive and understand emotions between different groups (Cross-boundary EI) can be considered as Group emotional intelligence (Group EI). In this research, a more representative Group EI measurement approach, which incorporates the information of the composition of a group and an individual’s role in that group, is proposed. To demonstrate the claim of being more representative Group EI measurement approach, this study adopts a multi-method research design, involving a combination of both qualitative and quantitative techniques to establish a metric of Group EI. From the results, it can be concluded that by introducing the weight coefficient of each group member on group work into the measurement of Group EI, Group EI will be more representative and more capable of understanding what happens during teamwork than previous approaches.

Keywords: case study, emotional intelligence, group EI, multi-method research

Procedia PDF Downloads 103

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

Abstract:

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 418

Authors: Chia-Ching Tsai

Abstract:

The study examined the control illusion of conditioned superstition by using Taiwanese subjects. The study had a three-group experimental design, that is, conditioning group and a control group, and the conditioning group was further separated into superstitious and unsuperstitious groups. The results showed that conditioned superstition can significantly influence the control illusion. Further analysis showed that the control illusion in the superstitious conditioning group was significantly greater than in the control group or in the unsuperstitious conditioning group. Besides, there was no significant difference between the control group and the unsuperstitious conditioning group.

Keywords: Control illusion, Conditioned superstition, experimental design

Procedia PDF Downloads 585

Authors: Sahabettin Mete, Abdullah C. Hocagil, Hilal Hocagil, Volkan Ulker, Hasan C. Taskin

Abstract:

Objectives and Goals: An emergency department is a place where people can come for a multitude of reasons 24 hours a day. As it is an easy, accessible place, thanks to self-sacrificing people who work in emergency departments. But the workload and overcrowding of emergency departments are increasing day by day. Under these circumstances, it is important to choose a quick, easily accessible and effective test for diagnosis. This results in laboratory and imaging tests being more than 40% of all emergency department costs. Despite all of the technological advances in imaging methods and available computerized tomography (CT), chest X-ray, the older imaging method, has not lost its appeal and effectiveness for nearly all emergency physicians. Progress in imaging methods are very convenient, but physicians should consider the radiation dose, cost, and effectiveness, as well as imaging methods to be carefully selected and used. The aim of the study was to investigate the effectiveness of chest X-ray in immediate diagnosis against the advancing technology by comparing chest X-ray and chest CT scan results of the patients in the emergency department. Methods: Patients who applied to Bulent Ecevit University Faculty of Medicine’s emergency department were investigated retrospectively in between 1 September 2014 and 28 February 2015. Data were obtained via MIAMED (Clear Canvas Image Server v6.2, Toronto, Canada), information management system which patients’ files are saved electronically in the clinic, and were retrospectively scanned. The study included 199 patients who were 18 or older, had both chest X-ray and chest CT imaging. Chest X-ray images were evaluated by the emergency medicine senior assistant in the emergency department, and the findings were saved to the study form. CT findings were obtained from already reported data by radiology department in the clinic. Chest X-ray was evaluated with seven questions in terms of technique and dose adequacy. Patients’ age, gender, application complaints, comorbid diseases, vital signs, physical examination findings, diagnosis, chest X-ray findings and chest CT findings were evaluated. Data saved and statistical analyses have made via using SPSS 19.0 for Windows. And the value of p < 0.05 were accepted statistically significant. Results: 199 patients were included in the study. In 38,2% (n=76) of all patients were diagnosed with pneumonia and it was the most common diagnosis. The chest X-ray imaging technique was appropriate in patients with the rate of 31% (n=62) of all patients. There was not any statistically significant difference (p > 0.05) between both imaging methods (chest X-ray and chest CT) in terms of determining the rates of displacement of the trachea, pneumothorax, parenchymal consolidation, increased cardiothoracic ratio, lymphadenopathy, diaphragmatic hernia, free air levels in the abdomen (in sections including the image), pleural thickening, parenchymal cyst, parenchymal mass, parenchymal cavity, parenchymal atelectasis and bone fractures. Conclusions: When imaging findings, showing cases that needed to be quickly diagnosed, were investigated, chest X-ray and chest CT findings were matched at a high rate in patients with an appropriate imaging technique. However, chest X-rays, evaluated in the emergency department, were frequently taken with an inappropriate technique.

Keywords: chest x-ray, chest computerized tomography, chest imaging, emergency department

Procedia PDF Downloads 158

Authors: Rim Frikha, Nouha Bouayed Abdelmoula, Afifa Sellami, Salima Daoud, Tarek Rebai

Abstract:

Klippel-Feil Syndrome (KFS) is characterized by congenital vertebral fusion of the cervical spine resulting from faulty segmentation along the embryo's developing axis. A wide spectrum of associated anomalies may be present. This heterogeneity has complicated elucidation of the genetic etiology and management of the syndrome. We report a case of an isolated Klippel-Feil Syndrome with C5-C6 fusion on the cervical spine. It‘s the rarest form of congenital fused cervical vertebrae which is predisposed to the risk of spinal cord injury and neurologic problems. The aim of this paper was to review clinical heterogeneity; radiographic abnormalities and genetic etiology in Klippel-Feil Syndrome. We insist in comprehensive evaluation and delineation of diagnostic and prognostic classes.

Keywords: Klippel–Feil anomaly, genetic, clinical heterogeneity, radiographic abnormalities

Procedia PDF Downloads 458

Authors: Sharmila Rathee

Abstract:

Individuals with disability/ies often face negative attitudes, discrimination, exclusion, and inequality of treatment due to stigmatization and stigmatized treatment. While a significant number of studies in field of stigma suggest that group-identification has positive consequences for stigmatized individuals, ironically very miniscule empirical work in sight has attempted to investigate in-group identification as a coping measure against stigma, humiliation and related experiences among disability group. In view of death of empirical research on in-group identification among disability group, through present work, an attempt has been made to examine the experiences of stigma, humiliation, and in-group identification among disability group. Results of the study suggest that use of in-group identification as a coping strategy is not uniform across members of disability group and degree of in-group identification differs across different sub-groups of disability groups. Further, in-group identification among members of disability group depends on variables like degree and impact of disability, factors like onset of disability, nature, and visibility of disability, educational experiences and resources available to deal with disabling conditions.

Keywords: disability, stigma, in-group identification, social identity

Procedia PDF Downloads 288

Authors: Ashish Kumar Agrahari, Amit Kumar

Abstract:

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal blood disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The disease is caused by the deficiency of two glycosylphosphatidylinositols (GPI)-anchored proteins (CD55 and CD59) in the hemopoietic stem cells. The deficiency of GPI-anchored proteins has been associated with the somatic mutations in phosphatidylinositol glycan class A (PIGA). However, the mutations that do not cause PNH is associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2). To best of our knowledge, no computational study has been performed to explore the atomistic level impact of PIGA mutations on the structure and dynamics of the protein. In the current work, we are mainly interested to get insights into the molecular mechanism of PIGA mutations. In the initial step, we screened the most pathogenic mutations from the pool of publicly available mutations. Further, to get a better understanding, pathogenic mutations were mapped to the modeled structure and subjected to 50ns molecular dynamics simulation. Our computational study suggests that four mutations are highly vulnerable to altering the structural conformation and stability of the PIGA protein, which illustrates its association with PNH and MCAHS2 phenotype.

Keywords: homology modeling, molecular dynamics simulation, missense mutations PNH, MCAHS2, PIGA

Procedia PDF Downloads 121

Authors: Victoria Eugenia Garnacho-Garnacho, Elena Sonsoles Rodriguez-Lopez, Raquel Delgado-Delgado, Alvaro Otero-Campos, Jesus Guodemar-Perez, Angelo Michelle Vagali, Juan Pablo Hervas-Perez

Abstract:

Asthma is a heterogeneous disease which has always had a drug treatment. Osteopathic treatment that we propose is aimed, seen through a dorsal manipulation (Dog Technic D1-D4) and a technique for diaphragm (Longitudinal Stroke) forced expiratory flow in spirometry changes there are in particular that there is an increase in the volumes of the Peak Flow and Post intervention and effort and that the application of these two techniques together is more powerful if we applied only a Longitudinal (Stroke). Also rating if this type of treatment will have repercussions on breathlessness, a very common symptom in asthma. And finally to investigate if provided vertebra pain decreased after a manipulation. Methods—Participants were recruited between students and professors of the University, aged 18-65, patients (n = 18) were assigned randomly to one of the two groups, group 1 (longitudinal Stroke and manipulation dorsal Dog Technic) and group 2 (diaphragmatic technique, Longitudinal Stroke). The statistical analysis is characterized by the comparison of the main indicator of obstruction of via area PEF (peak expiratory flow) in various situations through the peak flow meter Datospir Peak-10. The measurements were carried out in four phases: at rest, after the stress test, after the treatment, after treatment and the stress test. After each stress test was evaluated, through the Borg scale, the level of Dyspnea on each patient, regardless of the group. In Group 1 in addition to these parameters was calculated using an algometer spinous pain before and after the manipulation. All data were taken at the minute. Results—12 Group 1 (Dog Technic and Longitudinal Stroke) patients responded positively to treatment, there was an increase of 5.1% and 6.1% of the post-treatment PEF and post-treatment, and effort. The results of the scale of Borg by which we measure the level of Dyspnea were positive, a 54.95%, patients noted an improvement in breathing. In addition was confirmed through the means of both groups group 1 in which two techniques were applied was 34.05% more effective than group 2 in which applied only a. After handling pain fell by 38% of the cases. Conclusions—The impact of the technique of Dog-Technic for D1-D4 and the Longitudinal Stroke technique for diaphragm in the volumes of peak expiratory flow (PEF) in asthmatic patients were positive, there was a change of the PEF Post intervention and post-treatment, and effort and showed the most effective group in which only a technique was applied. Furthermore this type of treatment decreased facilitated vertebrae pain and was efficient in the improvement of Dyspnea and the general well-being of the patient.

Keywords: ANS, asthma, manipulation, manual therapy, osteopathic

Procedia PDF Downloads 261

Authors: Darshana Rathod, Kirtikumar Rathod, Kamlesh Kumari, Abhilasha Motghare

Abstract:

Background and Aims: Hypospadias is one of the common congenital anomalies in males. Various modalities are used for pain management, including caudal, penile, pudendal, ring blocks, and systemic analgesics. There has yet to be a consensus regarding the most effective and safe analgesic method for controlling pain in these children. We planned this study to determine our institute's pain management practices for hypospadias surgeries. Material and Methods: This retrospective cohort study reviewed 150 children with hypospadias undergoing surgery from January 2020 to December 2023. Data regarding the mode of pain management, postoperative opioid requirement, PACU discharge, and complications was collected from the records. Results: For postoperative pain, 33 (22%) children received caudal block, 60 (40%) penile block, and 57 (38%) were managed by intravenous analgesics. A significant difference was found in the three groups, with the IV analgesic group requiring significantly higher opioid boluses in PACU [43 (75.4%) required two boluses (p < 0.05)]. The difference in PACU discharge time among the three groups was statistically significant (p< 0.05), with IV analgesics groups having the highest (55 mins [47, 60]), the Caudal group at 35mins (30, 40), and the dorsal penile block group at 35mins (25, 40). There was no significant difference in complications like edema, meatal stenosis, urethra-cutaneous fistula, or wound dehiscence among all three groups. Conclusion: Intravenous analgesics and regional blocks like caudal and penile blocks are the common pain management modalities in our institute. The regional blocks are effective in managing pain in the postoperative period and are not significantly associated with complications.

Keywords: caudal block, hypospadias, pain management, penile block

Procedia PDF Downloads 15

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

Abstract:

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 53

Authors: Marzieh Amiri, Zahra Iranpour Mobarakeh, Fatemeh Mehrbakhsh, Mehran Amiri

Abstract:

Introduction: Early diagnosis and intervention of congenital hearing loss is necessary to minimize the adverse effects of hearing loss. The aim of the present study was to report the results of newborn hearing screening in a centerin the south part of Iran, Fasa. Material and methods: In this study, the data related to 6,144 newbornsduring September 2018 up to September2021, was analyzed. Hearing screening was performed using transient evoked otoacoustic emissions (TEOAEs) and automated auditory brainstem response (AABR) tests. Results: From all 6144 newborns,3752 and 2392referred to the center from urban and rural part of Fasa, respectively. There were 2958 female and 3186 male in this study. Of 6144 newborns, 6098 ones passed the screening tests, and 46 neonates were referred to a diagnostic audiology clinic. Finally, nine neonates were diagnosed with congenital hearing loss (seven with sensorineural hearing loss and two with conductive hearing loss). The severity of all the hearing impaired neonates was moderate and above. The most important risk factors were family history of hearing loss, low gestational age, NICU hospitalization, and hyperbilirubinemia. Conclusion: Our results showed that the prevalence of hearing loss was 1.46 per 1000 infants. Boosting public knowledge by providing families with proper education appears to be helpful in preventing the negative effects of delayed implementation of health screening programs.

Keywords: newborn hearing screening, hearing loss, risk factor, prevalence

Procedia PDF Downloads 125

Authors: Piyanud Chompookard

Abstract:

This research aims to study the effect of self-compassion techniques for individuals with depression (A pilot study). A quasi-experimental research with pretest-posttest is used to design this work. The research includes 30 participants, divided into the experimental group (ten samples) and the control group (twenty samples). The experimental group received a self-compassion techniques with an appropriate treatment for a total six times. The control group received an appropriate treatment. The measurement of this study using the Hamilton Rating Scale for Depression (Thai version). There are significant differences in levels of depression after received a self-compassion techniques with an appropriate treatment (p<.01). And there are significant differences in levels of depression between the experimental group and the control group (p<.01).

Keywords: depression, self compassion techniques, psychotherapy, pilot study

Procedia PDF Downloads 111

Authors: F. Kovács, K. Kádár, G. Hosszú, Á. T. Balogh, T. Zsedrovits, N. Kersner, A. Nagy, Gy. Jeney

Abstract:

The paper presents a novel screening method to indicate congenital heart diseases (CHD), which otherwise could remain undetected because of their low level. Therefore, not belonging to the high-risk population, the pregnancies are not subject to the regular fetal monitoring with ultrasound echocardiography. Based on the fact that CHD is a morphological defect of the heart causing turbulent blood flow, the turbulence appears as a murmur, which can be detected by fetal phonocardiography (fPCG). The proposed method applies measurements on the maternal abdomen and from the recorded sound signal a sophisticated processing determines the fetal heart murmur. The paper describes the problems and the additional advantages of the fPCG method including the possibility of measurements at home and its combination with the prescribed regular cardiotocographic (CTG) monitoring. The proposed screening process implemented on a telemedicine system provides an enhanced safety against hidden cardiac diseases.

Keywords: cardiac murmurs, fetal phonocardiography, screening of CHDs, telemedicine system

Procedia PDF Downloads 309

Authors: Burra Vijitha

Abstract:

A prospective randomized comparative study for the prevention of postoperative nausea and vomiting in the patients undergoing general anesthesia ,for elective laparoscopic surgeries with respect to efficacy and side effects of granisetron and palonosetron. Sixty adult patients of class ASA 1,2 of either sex in age group between 20-70 yrs,scheduled for elective laparoscopic surgeries were selected for the study.Patients were randomly divided into two groups 30 each. Group G: Granisetron group (n=30), 40µg/kg; Group P: Palonosetron group (n=30), 0.075 mg. at end of surgery before extubation group G patients 40 µg/kg of inj.granisetron and group P patients received 0.075 mg of inj.palonosetron slow iv over 30 sec.In post anesthesia care unit, episodes of nausea and vomiting experienced by each patient was recorded by direct questioning the patient .study medication was assessed in terms of incidence of nausea and vomiting during periods of 0-4 hrs,4-12 hrs,12-24 hrs,24-48hrs.our study demonstrated that complete response for those patients who received granisetron were 86.66%,80% and 66.66% ,while those received palonosetron were 100%,86.6%,90% between 0-4hrs,4-12hrs,12-24 hrs. It shows no statistically signidficant differences between the baseline values of hemodynamic variables beween two groups during study. Keywords: Granisetron, nausea, palonosetron, vomiting.

Keywords: granisetron, palonosetron, nausea, vomiting

Procedia PDF Downloads 215

Authors: Elias Bensalem

Abstract:

This study investigates the effect of two types of captioning (full and keyword captioning) on listening comprehension. Thirty-six university-level EFL students participated in the study. They were randomly assigned to watch three video clips under three conditions. The first group watched the video clips with full captions. The second group watched the same video clips with keyword captions. The control group watched the video clips without captions. After watching each clip, participants took a listening comprehension test. At the end of the experiment, participants completed a questionnaire to measure their perceptions about the use of captions and the video clips they watched. Results indicated that the full captioning group significantly outperformed both the keyword captioning and the no captioning group on the listening comprehension tests. However, this study did not find any significant difference between the keyword captioning group and the no captioning group. Results of the survey suggest that keyword captioning were a source of distraction for participants.

Keywords: captions, EFL, listening comprehension, video

Procedia PDF Downloads 235

Authors: Suteera Pradubwong, Darawan Augsornwan, Pornpen Pathumwiwathana, Benjamas Prathanee, Bowornsilp Chowchuen

Abstract:

Background: Cleft lip and palate (CLP) congenital anomalies have a high prevalence in the Northeast of Thailand. A care team’s understand of treatment plan would help to guide the family of patients with CLP to achieve the treatment. Objectives: To examine the impact of the empowering volunteer project, established in the northeast Thailand. Materials and Methods: The Empowering Volunteer project was conducted in 2008 under the Tawanchai Royal Granted project. The patients and family’s general information, treatment, the group brainstorming, and satisfaction with the project were analyzed. Results: Participants were 12 children with CLP, their families and five volunteers with CLP; the participating patients were predominantly females and the mean, age was 12.2 years. The treatment comprised of speech training, dental hygiene care, bone graft and orthodontic treatment. Four issues were addressed including: problems in taking care of breast feeding; instructions’ needs for care at birth; difficulty in access information and society impact; and needs in having a network of volunteers. Conclusions: Empowering volunteer is important for holistic care of patients with CLP which provides easy access and multiple channels for patients and their families. It should be developed as part of the self-help and family support group, the development of community based team and comprehensive CLP care program.

Keywords: self-help and family support group, community based model, volunteer, cleft lip-cleft palate

Procedia PDF Downloads 258

Authors: Lien-Fa Lin, Yung-Ming Li, Fu-Shun Hsieh

Abstract:

With the advancement of information technology and development of group commerce, people have obviously changed in their lifestyle. However, group commerce faces some challenging problems. The products or services provided by vendors do not satisfactorily reflect customers’ opinions, so that the sale and revenue of group commerce gradually become lower. On the other hand, the process for a formed customer group to reach group-purchasing consensus is time-consuming and the final decision is not the best choice for each group members. In this paper, we design a social decision support mechanism, by using group discussion message to recommend suitable options for group members and we consider social influence and personal preference to generate option ranking list. The proposed mechanism can enhance the group purchasing decision making efficiently and effectively and venders can provide group products or services according to the group option ranking list.

Keywords: social network, group decision, text mining, group commerce

Procedia PDF Downloads 461