Search results for: family intervention

Authors: Miriam Itzkowitz, Katie Olson

Abstract:

Through an interdisciplinary and trauma-responsive lens, this article reviews the legal and social history of mandated reporting laws and family separation, examines the ethical conundrum of mandated reporting as it relates to evidence-based practice, and discusses alternatives to mandated reporting as a primary prevention strategy. Using existing and emerging data, the authors argue that mandated reporting as a universal strategy contributes to racial disproportionality in the child welfare system and that anti-racist practices should begin with an examination of our reliance on mandated reporting.

Keywords: child welfare, education, mandated reporting, racial disproportionality, trauma

Procedia PDF Downloads 353

Authors: Annelyn Fatima Lopez, Ermenilda Avendano, Aileen Marie Vargas, Lara Baylon, Rorilee Angeles

Abstract:

BACKGROUND: The COVID-19 resulted in a public health emergency and quarantine measures which may negatively impact psychosocial and environmental aspects of vulnerable populations. OBJECTIVES: This study intended to determine the quality of life, situations and emerging concerns of parents of children with neurodevelopmental disorders during the ongoing coronavirus pandemic. METHODOLOGY: Parents of patients seen in the PCMC Neurodevelopmental Pediatrics OPD clinic were recruited to fill out questionnaires on parent and child characteristics, survey on situations and emerging concerns during the coronavirus pandemic and WHOQOL-BREF (Filipino version) for parental quality of life. RESULTS: Data from 115 respondents showed a lower score in the environmental domain. The child characteristics that are statistically comparable with the QoL scores include sex, severity of ID and ADHD while the parent characteristics that are statistically comparable with the QoL scores include educational attainment, monthly family income, father’s employment status and family structure (P-value <0.05). Most respondents reported physical distancing (82.61%) and curfew (80.87%) as measures implemented due to the pandemic. Inability to access essential services (43.48-74.48%) were further compounded by limited financial resources (51.30%) and public transport (60%). Government responses received include quarantine pass (90.43%), food allowance or relief package (86.09%), disinfection (60.87%), DSWD-SAP (42.61%) and cash distribution (41.74%). Concerns encountered include socio-environmental issues (i.e. no available transportation, effect on the ability to earn, inadequate food/medicine rations, disruptions in basic social services) and patient concerns (i.e. access to education, medical, developmental and behavioral services, nutrition and sleep). RECOMMENDATIONS: Programs and policies should be planned accordingly to provide improvement of quality of life for both parents and the child with a neurodevelopmental disorder.

Keywords: covid-19, neurodevelopmental disorder, parental quality of life, whoqol-bref

Procedia PDF Downloads 210

Authors: Asikhia Olubusayo Aduke

Abstract:

Students’ inability to set data-based (specific, measurable, attainable, reliable, and time-bound) personal improvement goals threatens their academic success. Hence, the study aimed to investigate year-one students’ academic goal-setting practices at Lagos State University of Education, Nigeria. Descriptive survey research was used in carrying out this study. The study population consisted of 3,101 year-one students of the University. A sample size of five hundred (501) participants was selected through a proportional and simple random sampling technique. The Formative Goal Setting Questionnaire (FGSQ) developed by Research Collaboration (2015) was adapted and used as an instrument for the study. Two main research questions were answered, while two null hypotheses were formulated and tested for the study. The study revealed higher data-based goals for all students than personal improvement goals. Nevertheless, data-based and personal improvement goal-setting for female students was higher than for male students. One sample test statistic and Anova used to analyse data for the two hypotheses also revealed that the mean difference between male and female year one students’ data-based and personal improvement goal-setting formation was statistically significant (p < 0.05). This means year one students’ data-based and personal improvement goals showed significant gender differences. Based on the findings of this study, it was recommended, among others, that therapeutic techniques that can help to change students’ faulty thinking and challenge their lack of desire for personal improvement should be sought to treat students who have problems with setting high personal improvement goals. Counsellors also need to advocate continued research into how to increase the goal-setting ability of male students and should focus more on counselling male students’ goal-setting ability. The main contributions of the study are higher institutions must prioritize early intervention in first-year students' academic goal setting. Researching gender differences in this practice reveals a crucial insight: male students often lag behind in setting meaningful goals, impacting their motivation and performance. Focusing on this demographic with data-driven personal improvement goals can be transformative. By promoting goal setting that is specific, measurable, and focused on self-growth (rather than competition), male students can unlock their full potential. Researchers and counselors play a vital role in detecting and supporting students with lower goal-setting tendencies. By prioritizing this intervention, we can empower all students to set ambitious, personalized goals that ignite their passion for learning and pave the way for academic success.

Keywords: academic goal setting, counselling, practice, university, year one students

Procedia PDF Downloads 62

Authors: M. Fry, L. Fitzpatrick, Julie Considine, R. Z. Shaban, Kate Curtis

Abstract:

Introduction: The vast majority of older Australians lives independently and are self-managing at home, despite a growing number living with a chronic illness that requires health intervention. Evidence shows that between 50% and 80% of people presenting to the emergency department (ED) are in pain. Australian EDs manage 7.2 million attendances every year and 1.4 million of these are people aged 65 years or more. Research shows that 28% of ED patients aged 65 years or more have Cognitive impairment (CI) associated with dementia, delirium and neurological conditions. Background: Traditional ED service delivery may not be suitable for older people who present with multiple, complex and ongoing illnesses. Likewise, ED clinical staff often perceive that their role should be focused more on immediate and potential lifethreatening illness and conditions which are episodic in nature. Therefore, the needs of older people and their family/carers may not be adequately addressed in the context of an ED presentation. Aim: We aimed to explore the utilisation and characteristics of older people presenting to four metropolitan EDs. Method: The findings being presented are part of a program of research exploring pain management practices for older persons with long bone fractures. The study was conducted across four metropolitan emergency departments of older patients (65years and over) and involved a 12-month randomised medical record audit (n=255). Results: ED presentations across four ED sites in 2012 numbered 168021, with 44778 (26.6%) patients aged 65 and over. Of the 44778 patients, the average age was 79.1 years (SD 8.54). There were more females 23932 (53.5%). The majority (26925: 85.0%) of older persons self-referred to the ED and lived independently. The majority arrived by ambulance (n=18553: 41.4%) and were allocated triage category was 3 (n=19,507:43.65%) or Triage category 4 at (n=15,389: 34.43%). The top five triage symptom presentations involved pain (n=8088; 18.25%), dyspnoea (n=4735; 10.7%), falls (n=4032; 9.1%), other (n=3984; 9.0%), cardiac (n=2987; 6.7%). The top five system based diagnostic presentations involved musculoskeletal (n=8902; 20.1%), cardiac (n=6704:15.0%), respiratory (n=4933; 11.0%), neurological (n=4909; 11.0%), gastroenterology (n=4321; 9.7%). On review of one tertiary hospital database the vital signs on average at time triage: Systolic Blood Pressure 143.6mmHg. Heart Rate 83.4 beats/minute; Respiratory Rate 18.5 breaths/ minute; Oxygen saturation 97.0% and Tympanic temperature 36.7 and Blood Glucose Level 7.4mmols/litre. The majority presented with a Glasgow Coma Score of 14 or higher. On average the older person stayed in the ED 4:56 (SD 3:28minutes).The average time to be seen was 39 minutes (SD 48 minutes). The majority of older persons were admitted (n=27562: 61.5%), did not wait for treatment (n= 8879: 0.02%) discharged home (n=16256: 36.0%). Conclusion: The vast majority of older persons are living independently, although many require admission on arrival to the ED. Many arrived in pain and with musculoskeletal injuries and or conditions. New models of care need to be considered, which may better support self-management and independent living of the older person and the National Emergency Access Targets.

Keywords: chronic, older person, aged care, emergency department

Procedia PDF Downloads 236

Authors: Jesse Silas Mshelia, Michael Mamman Degri, Akeweta Emmanuel Samaila

Abstract:

This review was conducted in the North-Eastern part of Nigeria where there are a lot of challenges of poverty and low level of productivity of farmlands as a result of dwindling soil fertility and dependence on crops that are not so much adopted to the soil and climatic condition and the prevailing farming systems of the area which is predominantly mixed cropping. The crops that are neglected are well fitted into this system of production and yield better with the low level of input and management and give a higher profit margin. These crops, the farmers have mastered the production techniques, but do not have the scientific knowledge to improve the quality of the seed and the products hence need the intervention of modern technologies to benefit maximally from the full potentials of these crops.

Keywords: farming systems, neglected crops, potentials, underutilised

Procedia PDF Downloads 375

Authors: Jin Liang, James H. Liu, Ti-Jun Xiao

Abstract:

It is known that there exist many physical phenomena where abrupt or impulsive changes occur either in the system dynamics, for example, ad-hoc network, or in the input forces containing impacts, for example, the bombardment of space antenna by micrometeorites. There are many other examples such as ultra high-speed optical signals over communication networks, the collision of particles, inventory control, government decisions, interest changes, changes in stock price, etc. These are impulsive phenomena. Hence, as a combination of the traditional initial value problems and the short-term perturbations whose duration can be negligible in comparison with the duration of the process, the systems with impulsive conditions (i.e., impulsive systems) are more realistic models for describing the impulsive phenomenon. Such a situation is also suitable for the delay systems, which include some of the past states of the system. So far, there have been a lot of research results in the study of impulsive systems with delay both in finite and infinite dimensional spaces. In this paper, we investigate the periodicity of solutions to the nonautonomous impulsive evolution equations with infinite delay in Banach spaces, where the coefficient operators (possibly unbounded) in the linear part depend on the time, which are impulsive systems in infinite dimensional spaces and come from the optimal control theory. It was indicated that the study of periodic solutions for these impulsive evolution equations with infinite delay was challenging because the fixed point theorems requiring some compactness conditions are not applicable to them due to the impulsive condition and the infinite delay. We are happy to report that after detailed analysis, we are able to combine the techniques developed in our previous papers, and some new ideas in this paper, to attack these impulsive evolution equations and derive periodic solutions. More specifically, by virtue of the related transition operator family (evolution family), we present a Poincaré operator given by the nonautonomous impulsive evolution system with infinite delay, and then show that the operator is a condensing operator with respect to Kuratowski's measure of non-compactness in a phase space by using an Amann's lemma. Finally, we derive periodic solutions from bounded solutions in view of the Sadovskii fixed point theorem. We also present a relationship between the boundedness and the periodicity of the solutions of the nonautonomous impulsive evolution system. The new results obtained here extend some earlier results in this area for evolution equations without impulsive conditions or without infinite delay.

Keywords: impulsive, nonautonomous evolution equation, optimal control, periodic solution

Procedia PDF Downloads 253

Authors: Dosun Shin, Assegid Kidane, Pavan Turaga

Abstract:

According to the National Institute of Health, living a sedentary lifestyle leads to a number of health issues, including increased risk of cardiovascular dis-ease, type 2 diabetes, obesity, and certain types of cancers. This project brings together experts in multiple disciplines to bring product design, sensor design, algorithms, and health intervention studies to develop a product and system that helps reduce the amount of time sitting at the workplace. This paper illustrates ongoing improvements to prototypes the research team developed in initial research; including working prototypes with a software application, which were developed and demonstrated for users. Additional modifications were made to improve functionality, aesthetics, and ease of use, which will be discussed in this paper. Extending on the foundations created in the initial phase, our approach sought to further improve the product by conducting additional human factor research, studying deficiencies in competitive products, testing various materials/forms, developing working prototypes, and obtaining feedback from additional potential users. The solution consisted of an aesthetically pleasing seat cover cushion that easily attaches to common office chairs found in most workplaces, ensuring a wide variety of people can use the product. The product discreetly contains sensors that track when the user sits on their chair, sending information to a phone app that triggers reminders for users to stand up and move around after sitting for a set amount of time. This paper also presents the analyzed typical office aesthetics and selected materials, colors, and forms that complimented the working environment. Comfort and ease of use remained a high priority as the design team sought to provide a product and system that integrated into the workplace. As the research team continues to test, improve, and implement this solution for the sedentary workplace, the team seeks to create a viable product that acts as an impetus for a more active workday and lifestyle, further decreasing the proliferation of chronic disease and health issues for sedentary working people. This paper illustrates in detail the processes of engineering, product design, methodology, and testing results.

Keywords: anti-sedentary work behavior, new product development, sensor design, health intervention studies

Procedia PDF Downloads 158

Authors: Anthonia Emmanuel Inaja

Abstract:

The role of the counseling services by Special Educators, Guidance Counsellors and psychologists alike to Families and Parents of children with special needs cannot be over-emphasized. This paper examined the vital role of counseling services and its impact on the emotional and physical readiness of parents to initiate and support the education and rehabilitation needs of their children. The paper considered the importance of counseling, when counseling services are best required preparing the mindset of parents and family members as well as the immediate community of the social needs child.

Keywords: counseling, families, special, needs, children, problems, prospect

Procedia PDF Downloads 514

Authors: Rangika Perera, Shyamani Hettiarachchi, Fran Hagstrom

Abstract:

Dyslexia is the most common reading reading-related difficulty among the school school-aged population and currently, 5-10% are showing the features of dyslexia in Sri Lanka. As there is an insufficient number of speech and language pathologists in the country and few speech and language pathologists working in government mainstream school settings, these children who are at risk of dyslexia are not receiving enough quality early intervention services to develop their reading skills. As teachers are the key professionals who are directly working with these children, using them as the primary facilitators to improve their reading skills will be the most effective approach. This study aimed to identify the efficacy of a two and half a day of intensive training provided to fifteen mainstream government school teachers of grade two classes. The goal of the training was to enhance their knowledge of dyslexia and provide full classroom skills training that could be used to support the development of the students’ reading competencies. A closed closed-ended multiple choice questionnaire was given to these teachers pre and -post-training to measure teachers’ knowledge of dyslexia, the areas in which these children needed additional support, and the best strategies to facilitate reading competencies. The data revealed that the teachers’ knowledge in all areas was significantly poorer prior to the training and that there was a clear improvement in all areas after the training. The gain in target areas of teaching skills selected to improve the reading skills of children was evaluated through peer feedback. Teachers were assigned to three groups and expected to model how they were going to introduce the skills in recommended areas using researcher developed, validated and reliability reliability-tested materials and the strategies which were introduced during the training within the given tasks. Peers and the primary investigator rated teachers’ performances and gave feedback on organizational skills, presentation skills of materials, clarity of instruction, and appropriateness of vocabulary. After modifying their skills according to the feedback the teachers received, they were expected to modify and represent the same tasks to the group the following day. Their skills were re-evaluated by the peers and primary investigator using the same rubrics to measure the improvement. The findings revealed a significant improvement in their teaching skills development. The data analysis of both knowledge and skills gains of the teachers was carried out using quantitative descriptive data analysis. The overall findings of the study yielded promising results that support intensive training as a method for improving teachers’ knowledge and teaching skill development for use with children in a whole class intervention setting who are at risk of dyslexia.

Keywords: Dyslexia, knowledge, teaching skills, training program

Procedia PDF Downloads 73

Authors: Anjana Rajput, Sandeep Chouksey, Bhaskar Bhandari, Shimpi Chourasia

Abstract:

Ecologically, grassland is any plant community dominated by grasses, whether they exist naturally or because of management practices. Most forest grasslands are anthropogenic and established plant communities planted for forage production, though some are established for soil and water conservation and wildlife habitat. In Satpura Tiger Reserve, Madhya Pradesh, India, most of the grasslands have been established on evacuated village sites. Total of 42 villages evacuated, and study was carried out in 23 sites to evaluate habitat improvement. Grasslands were classified into three categories, i.e., evacuated sites, established sites, and controlled sites. During the present study impact of various management interventions on grassland health was assessed. Grasslands assessment was done for its composition, status of palatable and non-palatable grasses, the status of herbs and legumes, status of weeds species, and carrying capacity of particular grassland. Presence of wild herbivore species in the grasslands with their abundance, availability of water resources was also assessed. Grassland productivity is dependent mainly on the biotic and abiotic components of the area, but management interventions may also play an important role in grassland composition and productivity. Variation in the status of palatable and non-palatable grasses, legumes, and weeds was recorded and found effected by management intervention practices. Overall in all the studied grasslands, the most dominant grasses recorded are Themeda quadrivalvis, Dichanthium annulatum, Ischaemum indicum, Oplismenus burmanii, Setaria pumilla, Cynodon dactylon, Heteropogon contortus, and Eragrostis tenella. Presence of wild herbivores, i.e., Chital, Sambar, Bison, Bluebull, Chinkara, Barking deer in the grassland area has been recorded through the installation of camera traps and estimated their abundance. Assessment of developed grasslands was done in terms of habitat suitability for Chital (Axis axis) and Sambar (Rusa unicolor). The parameters considered for suitability modeling are biotic and abiotic life requisite components existing in the area, i.e., density of grasses, density of legumes, availability of water, site elevation, site distance from human habitation. Findings of the present study would be useful for further grassland management and animal translocation programmes.

Keywords: carrying capacity, dominant grasses, grassland, habitat suitability, management intervention, wild herbivore

Procedia PDF Downloads 127

Authors: Hamid Abchir, Mohammed Sabak2

Abstract:

We construct an infinite family of links which are both almost alternating and quasi-alternating from a given either almost alternating diagram representing a quasi-alternating link, or connected and reduced alternating tangle diagram. To do that we use what we call a dealternator extension which consists in replacing the dealternator by a rational tangle extending it. We note that all non-alternating and quasi-alternating Montesinos links can be obtained in that way. We check that all the obtained quasi-alternating links satisfy Conjecture 3.1 of Qazaqzeh et al. (JKTR 22 (6), 2013), that is the crossing number of a quasi-alternating link is less than or equal to its determinant. We also prove that the converse of Theorem 3.3 of Qazaqzeh et al. (JKTR 24 (1), 2015) is false.

Keywords: quasi-alternating links, almost alternating links, tangles, determinants

Procedia PDF Downloads 160

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

Abstract:

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

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

Procedia PDF Downloads 341

Authors: Wayde Veldman, Ozlem T. Bishop, Igor Polikarpov

Abstract:

In bacteria, mono and disaccharides are phosphorylated during uptake into the cell via the widely used phosphoenolpyruvate (PEP)-dependent phosphotransferase transport system. As an initial step in the phosphorylated disaccharide metabolism pathway, certain glycoside hydrolase family 1 (GH1) enzymes play a crucial role in releasing phosphorylated and non-phosphorylated monosaccharides. However, structural determinants for the specificity of these enzymes still need to be clarified. GH1 enzymes are known to have a wide array of functions. According to the CAZy database, there are twenty-one different enzymatic activities in the GH1 family. Here, the structure and substrate specificity of a GH1 enzyme from Bacillus licheniformis, hereafter known as BlBglH, was investigated. The sequence of the enzyme BlBglH was compared to the sequences of other characterized GH1 enzymes using sequence alignment, sequence identity calculations, phylogenetic analysis, and motif discovery. Through these various analyses, BlBglH was found to have sequence features characteristic of the 6-phospho-β-glucosidase activity enzymes. Additionally, motif and structure comparisons of the three most commonly studied GH1 enzyme-activities revealed a shared loop amongst the different structures that consist of different sequence motifs – this loop is thought to guide specific substrates (depending on activity) towards the active-site. To further affirm BlBglH enzyme activity, molecular docking and molecular dynamics simulations were performed. Docking was carried out using 6-phospho-β-glucosidase enzyme-activity positive (p-Nitrophenyl-beta-D-glucoside-6-phosphate) and negative (p-Nitrophenyl-beta-D-galactoside-6-phosphate) control ligands, followed by 400 ns molecular dynamics simulations. The positive-control ligand maintained favourable interactions within the active site until the end of the simulation. The negative-control ligand was observed exiting the enzyme at 287 ns. Binding free energy calculations showed that the positive-control complex had a substantially more favourable binding energy compared to the negative-control complex. Jointly, the findings of this study suggest that the BlBglH enzyme possesses 6-phospho-β-glucosidase enzymatic activity.

Keywords: 6-P-β-glucosidase, glycoside hydrolase 1, molecular dynamics, sequence analysis, substrate specificity

Procedia PDF Downloads 130

Authors: Calvin Rong, Regina Agassian, Joel Hernandez, Mindy Engle-Friedman

Abstract:

This study assessed strategies to stimulate engagement with future environmental needs. 32 participants were randomly assigned to one of three conditions which involved imagining and drawing: 1) a generic person in current life, 2) one’s self in current life or 3) one’s self in the future. Participants before and after the intervention indicated connectedness to their selves 50 years in the future on an adapted Future Self-Continuity Scale. A significant interaction (p = .03) showed no difference in connectedness into one’s future self in the control group, a decrease in connectedness in those who imagined themselves in the present and an increase in connectedness in those who imagined themselves in the future. Results suggest attention to one’s present life circumstances may interfere with one’s connection with future environmental issues but imagining one’s future life may stimulate actions that result in future environmental protection.

Keywords: environmental psychology, future priming, climate change, global warming

Procedia PDF Downloads 209

Authors: D. Y. Fong, C. Y. Kuo, Y. T. Chiang, W. C. Lin

Abstract:

Objectives: Qigong is an ancient Chinese practice in pursuit of a healthier body and a more peaceful mindset. It emphasizes on the restoration of vital energy (Qi) in body, mind, and spirit. The practice is the combination of gentle movements and mild breathing which help the doers reach the condition of tranquility. On account of the features of Qigong, first, we use cross-sectional methodology to compare the differences among the varied levels of Qigong practitioners on cognitive function with event-related potential (ERP) and electroencephalography (EEG). Second, we use the longitudinal methodology to explore the effects on the Qigong trainees for pretest and posttest on ERP and EEG. Current study adopts Attentional Network Test (ANT) task to examine the participants’ cognitive function, and aging-related researches demonstrated a declined tread on the cognition in older adults and exercise might ameliorate the deterioration. Qigong exercise integrates physical posture (muscle strength), breathing technique (aerobic ability) and focused intention (attention) that researchers hypothesize it might improve the cognitive function in aging adults. Method: Sixty participants were involved in this study, including 20 young adults (21.65±2.41 y) with normal physical activity (YA), 20 Qigong experts (60.69 ± 12.42 y) with over 7 years Qigong practice experience (QE), and 20 normal and healthy adults (52.90±12.37 y) with no Qigong practice experience as experimental group (EG). The EG participants took Qigong classes 2 times a week and 2 hours per time for 24 weeks with the purpose of examining the effect of Qigong intervention on cognitive function. ANT tasks (alert network, orient network, and executive control) were adopted to evaluate participants’ cognitive function via ERP’s P300 components and P300 amplitude topography. Results: Behavioral data: 1.The reaction time (RT) of YA is faster than the other two groups, and EG was faster than QE in the cue and flanker conditions of ANT task. 2. The RT of posttest was faster than pretest in EG in the cue and flanker conditions. 3. No difference among the three groups on orient, alert, and execute control networks. ERP data: 1. P300 amplitude detection in QE was larger than EG at Fz electrode in orient, alert, and execute control networks. 2. P300 amplitude in EG was larger at pretest than posttest on the orient network. 3. P300 Latency revealed no difference among the three groups in the three networks. Conclusion: Taken together these findings, they provide neuro-electrical evidence that older adults involved in Qigong practice may develop a more overall compensatory mechanism and also benefit the performance of behavior.

Keywords: Qigong, cognitive function, aging, event-related potential (ERP)

Procedia PDF Downloads 393

Authors: Omaymah Al-Otoom, Rajesh Mehta

Abstract:

Introduction: Migration is an established risk factor in the development of schizophrenia and other forms of psychosis. The exposure to different social adversities, including social isolation, discrimination, and economic stress, is thought to contribute to elevated rates of psychosis in immigrants and their children. We present a case of resistant schizophrenia in an immigrant adolescent. Case: The patient is a 15-year-old male immigrant. In October 2021, the patient was admitted for irritability, suicidal ideations, and hallucinations. He was treated with Fluoxetine 10 mg daily for irritability. In November 2021, he presented with similar manifestations. Fluoxetine was discontinued, and Risperidone 1 mg at bedtime was started for psychotic symptoms. In March 2022, he presented with commanding auditory hallucinations (voices telling him that people were going to kill his father). Risperidone was gradually increased to 2.5 mg twice daily for hallucinations. The outpatient provider discontinued Risperidone and started Olanzapine 7.5 mg and Lurasidone 40 mg daily. In August 2022, he presented with worsening paranoia due to medication non-adherence. The patient had limited improvement on medications. In October 2022, the patient presented to the ED for visual hallucinations and aggression towards the family. His medications were Olanzapine 10 mg daily, Lurasidone 60 mg daily, and Haloperidol 2.5 mg twice daily. In the ED, he received multiple as-needed medications and was placed in seclusion for his aggressive behavior. The patient showed a positive response to a higher dose of Olanzapine and decreased dose of Lurasidone. The patient was discharged home in stable condition. Two days after discharge, he was brought for bizarre behavior, visual hallucinations, and homicidal ideations at school. Due to concerns for potential antipsychotic side effects and poor response, Lurasidone and Olanzapine were discontinued, and he was discharged home on Haloperidol 5 mg in the morning and 15 mg in the evening. Clozapine treatment was recommended on an outpatient basis. He has no family history of psychotic disorders. He has no history of substance use. A medical workup was done, the electroencephalogram was normal, and the urine toxicology was negative. Discussion: Our patient was on three antipsychotics at some point with no improvement in his psychotic symptoms, which qualifies as treatment-resistant schizophrenia (TRP). It is well recognized that migrants are at higher risk of different psychiatric disorders, including posttraumatic stress disorder, affective disorders, schizophrenia, and psychosis. This is thought to be related to higher exposure to traumatic life events compared to the general population. In addition, migrants are more likely to experience poverty, separation from family members, and discrimination which could contribute to mental health issues. In one study, they found that people who migrated before the age of 18 had twice the risk of psychotic disorders compared to the native-born population. It is unclear whether migration increases the risk of treatment resistance. In a Canadian study, neither ethnicity nor migrant status was associated with treatment resistance; however, this study was limited by its small sample size. There is a need to implement psychiatric prevention strategies and outreach programs through research to mitigate the risk of mental health disorders among immigrants.

Keywords: psychosis, immigrant, adolescent, treatment resistant schizophrenia

Procedia PDF Downloads 117

Authors: Robi Lou Logarta, Meliz Ann Marilag, Kristyl Lee Nisnisan, Felipe Lula Jr.

Abstract:

Nowadays, alcohol is consumed widely around the globe for plenty of reasons. College years are the time that the students really decide if whether they will or will not engage into alcohol, although alcohol drinking begins before students arrive at college. The reasons on why college students consume alcohol vary in many categories. The norms on alcohol drinking are addiction, emotional pain reliever, popularity purposes, socialization, and a medium of euphoria for most students; college students in particular are most likely to feel this need. After tons of requirements to be complied and courses to be reviewed, they felt a need for celebration and relaxation which ends up in drinking with college mates and a few old friends. A lot of reasons consist the consumption of alcohol and this research determined the reasons behind the students’ onset for alcohol consumption; the main reason for such action and the experiences they encountered after in-take, furthermore, the correlation of alcohol drinking to the average allowance of the involved participants; Mindanao State University-Iligan Institute of Technology Students whether it affects their spending towards alcohol or not. This study assumes that alcohol drinking for MSU-IIT students’ is done to relieve emotional pain caused by flunking in particular subjects as well as dealing with romance, as part of the student body, these acts are noticeable enough which made this hypothesis be formulated. Selected MSU-IIT students were asked about their opinions regarding reasons of alcohol consumption. There were 100 respondents consisting of first year to fifth-year students aging 17-23 years old. Choices were given to the students to mark their most favorable reason for drinking that is adult influence, curiosity, family/personal problems, peer pressure, stress. Using the bar and pie chart illustrations, the collected data was then analyzed and among the given choices, the result has invalidated the hypothesis. The outcome shows that curiosity is the topmost reason why students start to drink and not due to emotional pain. With this, another hypothesis is formulated stating that millennial is a curious generation; this generation has changed the norm of drinking. One of the characteristics of the Y generation is being adventurous which correlates to how they get curious about things and the same goes for alcohol consumption, compared to the latter, this generation can be considered early drinkers in this manner. Therefore, it is concluded that MSU-IIT students which are part of the generation Y are adventurous enough to try unfamiliar beverages to satisfy their curious minds.

Keywords: adult influence, curiosity, family/personal problems, peer pressure, stress

Procedia PDF Downloads 261

Authors: Pei-Shan Liang

Abstract:

Objective: This article explores the care experience of a terminal lung cancer patient who developed lower limb paralysis after surgery for aortic dissection. The patient, diagnosed with aortic dissection during chemotherapy for lung cancer, faced post-surgical lower limb paralysis, leading to feelings of helplessness and hopelessness as they approached death with reduced mobility. Methods: The nursing period was from July 19 to July 27, during which the author, alongside the intensive care team and palliative care specialists, conducted a comprehensive assessment through observation, direct care, conversations, physical assessments, and medical record review. Gordon's eleven functional health patterns were used for a holistic evaluation, identifying four nursing health issues: "pain related to terminal lung cancer and invasive procedures," "decreased cardiac tissue perfusion due to hemodynamic instability," "impaired physical mobility related to lower limb paralysis," and "hopelessness due to the unpredictable prognosis of terminal lung cancer." Results: The medical team initially focused on symptom relief, administering Morphine 5mg in 0.9% N/S 50ml IVD q6h for pain management and continuing chemotherapy as prescribed. Open communication was employed to address the patient's physical, psychological, and spiritual concerns. Non-pharmacological interventions, including listening, caring, companionship, opioid medication, and distraction techniques like comfortable positioning and warm foot baths, were used to alleviate pain, reducing the pain score to 3 on the numeric rating scale and easing respiratory discomfort. The palliative care team was also involved, guiding the patient and family through the "Four Paths of Life," helping the patient achieve a good end-of-life experience and the family to experience a peaceful life. This process also served to promote the concept of palliative care, enabling more patients and families to receive high-quality and dignified care. The patient was encouraged to express inner anxiety through drawing or writing, which helped reduce the hopelessness caused by psychological distress and uncertainty about the disease's prognosis, as assessed by the Hospital Anxiety and Depression Scale, reaching a level of mild anxiety but acceptable without affecting sleep. Conclusion: What left a deep impression during the care process was the need for intensive care providers to consider the patient's psychological state, not just their physical condition, when the patient's situation changes. Family support and involvement often provide the greatest solace for the patient, emphasizing the importance of comfort and dignity. This includes oral care to maintain cleanliness and comfort, frequent repositioning to alleviate pressure and discomfort, and timely removal of invasive devices and unnecessary medications to avoid unnecessary suffering. The nursing process should also address the patient's psychological needs, offering comfort and support to ensure that they can face the end of life with peace and dignity.

Keywords: intensive care, lung cancer, aortic dissection, lower limb paralysis

Procedia PDF Downloads 26

Authors: Georgios A. Fragkiadakis, Antonia Psaroudaki, Theodora Mouratidou, Eirini Sfakianaki

Abstract:

Research: The nutritional benefits of eating carob are many and important for the human organism, as it is a food rich in carbohydrates and low in fat and contains multiple nutrients, making it a "superfood". Within the framework of the project "Actions for the optimal utilization of the potential of carob in the Region of Crete" which is financed-supervised by the Region of Crete, a second-grade local self-government authority, with the collaboration of the University of Crete and of the Hellenic Mediterranean University, an online survey was carried out with the aim of evaluating dietary habits and views related to the consumption of carob and its products in a sample of local residents. Results and Conclusions: Of the 351 participants, 259 (73.8%) stated that they consume carob products, and 26.2% stated that they do not. Difficult access and limited availability of carob-food products (33.7%), high price (20.7%), and difficulties of use and preparation (15.2%) were cited as the main reasons for non-consumption. Other reasons, to a lesser extent, concern the taste, especially the sweet aftertaste of some products. Concerning the behavior and eating habits related to the consumption of carob products (n=259), 57.9% of the sample report that they buy carob products "sometimes"; 21.2% report "often"; 19.7% report "rarely", and a very small percentage of 1.2% report "constantly". With reference to the reasons for choosing carob products, the participants mention the main reason for their high nutritional value (51.7%), followed by 32.4% of nutritional claims and health claims, and the organoleptic characteristics (10.8%). Other positive factors are the final price of the product, the ease of use, and the respect for the local environment and producers. Some bakery products show the highest percentage of consumption among carob-food consumers, mainly in the form of rusks (86.1%) and breadsticks (70.3%). They are followed, in descending order, by bread (63.3%), toast (52.1%), and flour (50.6%). More specifically: 40.5% consume carob rusks less than once a month; 22% consume less than once a week; up to twice a week 12.4%; 6.6%, consume rusks 3 to 4 times a week, and daily 3.9%. It is worth mentioning that a high percentage of consumers of carob products recommend the consumption to their family and friends. Only a small percentage, in the range of 5%, does not recommend the consumption of carob products in their close family/social circle. The main motivating factors for the consumption of carob products are the expected effects they may have on health (74.1%) and the organoleptic characteristics with a percentage of 21.6%.

Keywords: food, consumer, preferences, carob, Crete, Greece

Procedia PDF Downloads 65

Authors: F. Nameni, H. Poursadra

Abstract:

The present study investigated resistance and progressive training alters the expression of chaperone proteins. These proteins function to maintain homeostasis, facilitate repair from injury, and provide protection. Nineteen training female in 2 groups taking part in the intervention volunteered to give blood samples. Levels of chaperone proteins were measured in response to resistance and progressive training. Hsp 70 levels were increased immediately after 2 h progressive training but decreased after resistance training. The data showed that human skeletal muscle responds to the stress of a single period of progressive training by up-regulating and resistance training by down-regulating expression of HSP70. Physical exercise can elevate core temperature and muscle temperatures and the expression pattern of HSP70 due to training status may be attributed to adaptive mechanisms.

Keywords: resistance training, heat shock proteins, leukocytes, Hsp 70

Procedia PDF Downloads 458

Authors: Andrea Zielke-Nadkarni

Abstract:

Pain management is a question of quality of life and an indicator for nursing quality. Chronic pain which is predominant in oncology and palliative nursing situations is perceived today as a multifactorial, individual emotional experience with specific characteristics including the sociocultural dimension when dealing with migrant patients. This dimension of chronic pain is of major importance in professional nursing of migrant patients in hospices or palliative care units. Objectives of the study are: 1. To find out more about the sociocultural views on pain and nursing care, on customs and nursing practices connected with pain of both Turkish Muslim and German Christian women, 2. To improve individual and family oriented nursing practice with view to sociocultural needs of patients in severe pain in palliative care. In a qualitative-explorative comparative study 4 groups of women, Turkish Muslims immigrants (4 from the first generation, 5 from the second generation) and German Christian women of two generations (5 of each age group) of the same age groups as the Turkish women and with similar educational backgrounds were interviewed (semistructured ethnographic interviews using Spradley, 1979) on their perceptions and experiences of pain and nursing care within their families. For both target groups the presentation will demonstrate the following results in detail: Utterance of pain as well as “private” and “public” pain vary within different societies and cultures. Permitted forms of pain utterance are learned in childhood and determine attitudes and expectations in adulthood. Language, especially when metaphors and symbols are used, plays a major role for misunderstandings. The sociocultural context of illness may include specific beliefs that are important to the patients and yet seem more than far-fetched from a biomedical perspective. Pain can be an influential factor in family relationships where respect or hierarchies do not allow the direct utterance of individual needs. Specific resources are often, although not exclusively, linked to religious convictions and are significantly helpful in reducing pain. The discussion will evaluate the results of the study with view to the relevant literature and present nursing interventions and instruments beyond medication that are helpful when dealing with patients from various socio-cultural backgrounds in painful end-oflife situations.

Keywords: pain management, migrants, sociocultural context, palliative care

Procedia PDF Downloads 363

Authors: Yuhui Liu, Lydia Speyer, Jasmin Wertz, Ingrid Obsuth

Abstract:

Childhood adversities refer to situations where a child's basic needs for safety and support are compromised, leading to substantial disruptions in their emotional, cognitive, social, or neurobiological development. Given the prevalence of adversities (8%-39%), their impact on developmental outcomes is challenging to completely avoid. Delinquency is an important consequence of childhood adversities, given its potential causing violence and other forms of victimisation, influencing victims, delinquents, their families, and the whole of society. Studying mediators helps explain the link between childhood adversity and delinquency, which aids in designing effective intervention programs that target explanatory variables to disrupt the path and mitigate the effects of childhood adversities on delinquency. The Dimensional Model of Adversity and Psychopathology suggests that threat-based adversities influence outcomes through emotion processing, while deprivation-based adversities do so through cognitive mechanisms. Thus, considering a wide range of threat-based and deprivation-based adversities and their co-occurrence and their associations with delinquency through cognitive and emotional mechanisms is essential. This study employs the Millennium Cohort Study, tracking the development of approximately 19,000 individuals born across England, Scotland, Wales and Northern Ireland, representing a nationally representative sample. Parallel mediation models compare the mediating roles of self-esteem (cognitive) and depression (affective) in the associations between childhood adversities and delinquency. Eleven types of childhood adversities were assessed both individually and through latent class analysis, considering adversity experiences from birth to early adolescence. This approach aimed to capture how threat-based, deprived-based, or combined threat and deprived-based adversities are associated with delinquency. Eight latent classes were identified: three classes (low adversity, especially direct and indirect violence; low childhood and moderate adolescent adversities; and persistent poverty with declining bullying victimisation) were negatively associated with delinquency. In contrast, three classes (high parental alcohol misuse, overall high adversities, especially regarding household instability, and high adversity) were positively associated with delinquency. When mediators were included, all classes showed a significant association with delinquency through depression, but not through self-esteem. Among the eleven single adversities, seven were positively associated with delinquency, with five linked through depression and none through self-esteem. The results imply the importance of affective variables, not just for threat-based but also deprivation-based adversities. Academically, this suggests exploring other mechanisms linking adversities and delinquency since some adversities are linked through neither depression nor self-esteem. Clinically, intervention programs should focus on affective variables like depression to mitigate the effects of childhood adversities on delinquency.

Keywords: childhood adversity, delinquency, depression, self-esteem

Procedia PDF Downloads 32

Authors: N. Tarai, S. Seighi, S. Doumandji

Abstract:

The date palm trees Phoenix dactylifera L. are subject to infestation with a variety of insect pests and mite associated, the Carob moth Ectomyelois ceatoniae (Zeller)(Lepidoptera, Pyralidae) is a key pest. Survey of the insect and mite pests associated with date palm trees in the seven stations at Biskra Oasis, throughout two successive years, from October 2011 until September 2012 revealed twelve insect pests belonging to ten families and six orders in addition to one mite belonging to one family from order Acari.

Keywords: date palm, insect, pests, infestation, mit, Biskra, Oasis

Procedia PDF Downloads 455

Authors: Abdel Hadi Ebraheim

Abstract:

This paper introduces a new extension of the Inverse Pareto distribution in the framework of Marshal-Olkin (1997) family of distributions. This model is capable of modeling various shapes of aging and failure data. The statistical properties of the new model are discussed. Several methods are used to estimate the parameters involved. Explicit expressions are derived for different types of moments of value in reliability analysis are obtained. Besides, the order statistics of samples from the new proposed model have been studied. Finally, the usefulness of the new model for modeling reliability data is illustrated using two real data sets with simulation study.

Keywords: pareto distribution, marshal-Olkin, reliability, hazard functions, moments, estimation

Procedia PDF Downloads 82

Authors: Amiel Satvedi, Richard Pyne

Abstract:

Injuries in professional sports occur on a regular basis. Some may be minor, while others can cause huge impact on a player's career and earning potential. In soccer, there is a high risk of players picking up injuries during game time. This research work seeks to help soccer players reduce the risk of getting injured by predicting the likelihood of injury while playing in the near future and then providing recommendations for intervention. The injury prediction tool will use a soccer player's number of minutes played on the field, number of appearances, distance covered and performance data for the current and previous seasons as variables to conduct statistical analysis and provide injury predictive results using a machine learning linear regression model.

Keywords: injury predictor, soccer injury prevention, machine learning in soccer, big data in soccer

Procedia PDF Downloads 182

Authors: Haruka Ando

Abstract:

Undernutrition of children is a critical issue, especially for people in the remote areas of the Republic of Djibouti, since household food insecurity, inadequate child caring and feeding, unhealthy environment and lack of clean water, as well as insufficient maternal and child healthcare, are underlying causes which affect. Nomadic pastoralists living in the Dikhil region (Dikhil) are socio-economically and geographically more vulnerable due to displacement, which in turn worsens the situation of child stunting. A high prevalence of inappropriate complementary feeding among pastoral mothers might be a significant barrier to child growth. This study aims to identify health promotion intervention strategies that would support an increase in optimal complementary feeding among pastoral mothers of children aged 6-23 months in Dikhil. There are four objectives; to explore and to understand the existing practice of complementary feeding among pastoral mothers in Dikhil; to identify the barriers in appropriate complementary feeding among the mothers; to critically explore and analyse the strategies for an increase in complementary feeding among the mothers; to make pragmatic recommendations to address the barriers in Djibouti. This is an in-depth study utilizing a conceptual framework, the behaviour change wheel, to analyse the determinants of complementary feeding and categorize health promotion interventions for increasing optimal complementary feeding among pastoral mothers living in Dikhil. The analytical tool was utilized to appraise the strategies to mitigate the selected barriers against optimal complementary feeding. The data sources were secondary literature from both published and unpublished sources. The literature was systematically collected. The findings of the determinants including the barriers of optimal complementary feeding were identified: heavy household workload, caring for multiple children under five, lack of education, cultural norms and traditional eating habits, lack of husbands' support, poverty and food insecurity, lack of clean water, low media coverage, insufficient health services on complementary feeding, fear, poor personal hygiene, and mothers' low decision-making ability and lack of motivation for food choice. To mitigate selected barriers of optimal complementary feeding, four intervention strategies based on interpersonal communication at the community-level were chosen: scaling up mothers' support groups, nutrition education, grandmother-inclusive approach, and training for complementary feeding counseling. The strategies were appraised through the criteria of effectiveness and feasibility. Scaling up mothers' support groups could be the best approach. Mid-term and long-term recommendations are suggested based on the situation analysis and appraisal of intervention strategies. Mid-term recommendations include complementary feeding promotion interventions are integrated into the healthcare service providing system in Dikhil, and donor agencies advocate and lobby the Ministry of Health Djibouti (MoHD) to increase budgetary allocation on complementary feeding promotion to implement interventions at a community level. Moreover, the recommendations include a community health management team in Dikhil training healthcare workers and mother support groups by using complementary feeding communication guidelines and monitors behaviour change of pastoral mothers and health outcome of their children. Long-term recommendations are the MoHD develops complementary feeding guidelines to cover sector-wide collaboration for multi-sectoral related barriers.

Keywords: Afar, child food, child nutrition, complementary feeding, complementary food, developing countries, Djibouti, East Africa, hard-to-reach areas, Horn of Africa, nomad, pastoral, rural area, Somali, Sub-Saharan Africa

Procedia PDF Downloads 125

Authors: Cory B. Lord

Abstract:

Falls among the elderly population has become an area of concern in healthcare today. The negative impacts of falls lead to increased morbidity, mortality, and financial burdens for both patients and healthcare systems. Falls in the United States is reported at an annual rate of 36 million in those aged 65 and older. Each year, one out of four people in this age group will suffer a fall, with 20% of these falls causing injury. The setting for this Doctor of Nursing Practice (DNP) project was a memory care unit in an assisted living community, as these facilities house cognitively impaired older adults. These communities lack fall prevention programs; therefore, the need exists to add to the body of knowledge to positively impact this population. The objective of this project was to reduce fall rates through the implementation of the Center for Disease Control and Prevention (CDC) STEADI (stopping elderly accidents, deaths, and injuries) program. The DNP project performed was a quality improvement pilot study with a pre and post-test design. This program was implemented in the memory care setting over 12 weeks. The project included an educational session for staff and a fall risk assessment with appropriate resident referrals. The three aims of the DNP project were to reduce fall rates among the elderly aged 65 and older who reside in the memory care unit, increase staff knowledge of STEADI fall prevention measures after an educational session, and assess the willingness of memory care unit staff to adopt an evidence-based a fall prevention program. The Donabedian model was used as a guiding conceptual framework for this quality improvement pilot study. The fall rate data for 12 months before the intervention was evaluated and compared to post-intervention fall rates. The educational session comprised of a pre and post-test to assess staff knowledge of the fall prevention program and the willingness of staff to adopt the fall prevention program. The overarching goal was to reduce falls in the elderly population who live in memory care units. The results of the study showed, on average that the fall rate during the implementation period of STEADI (μ=6.79) was significantly lower when compared to the prior 12 months (μ= 9.50) (p=0.02, α = 0.05). The mean staff knowledge scores improved from pretest (μ=77.74%) to post-test (μ=87.42%) (p=0.00, α= 0.05) after the education session. The results of the willingness to adopt a fall prevention program were scored at 100%. In summation, implementing the STEADI fall prevention program can assist in reducing fall rates for residents aged 65 and older who reside in a memory care setting.

Keywords: dementia, elderly, falls, STEADI

Procedia PDF Downloads 129

Authors: Sabrina Servot, Annick St-Amand, Michel Rousseau, Valerie Simard, Evelyne Touchette

Abstract:

Child maltreatment has a profound impact on children’s development. In its victims, internalizing and externalizing problems are highly prevalent, and sleep problems are common. Furthermore, the environment they live in is often disorganized, lacking routine and consistency. In non-maltreated children, several studies documented the important role of sleep regulation and sleep ecology. A poor sleep ecology (e.g., lack of sleep hygiene and bedtime routine, inappropriate sleeping location) may lead to sleep regulation problems (e.g., short sleep duration, nocturnal awakenings), and sleep regulation problems may increase the risk of behavior problems. Therefore, this scoping review aims to map evidence about sleep ecology and sleep regulation and the associations between sleep ecology, sleep regulation, and behavior problems in maltreated preschoolers. Literature from 1993 was searched in PsycInfo, Pubmed, Medline, Eric, and Proquest Dissertations and Theses. Articles and thesis were comprehensively reviewed based upon inclusion/exclusion criteria: 1) it concerns maltreated children aged 1-5 years, and 2) it addresses at least one of the following: sleep ecology, sleep regulation, and/or their associations with behavior problems in maltreated preschoolers. From the 650 studies screened, nine of them were included. Data were charted according to study characteristics, nature of variable documented, measures, analyses performed, and results of each study, then synthesized in a narrative summary. The main results show all included articles were quantitative. Foster children samples were used in four studies, children experienced different types of maltreatment in six studies, while one was specifically about sexually abused children. Regarding sleep ecology, only one study describing maltreated preschoolers’ sleep ecology was found, while seven studies documented sleep regulation. Among these seven studies, 17 different sleep variables (e.g., parasomnia, dyssomnia, total 24-h sleep duration) were used, each study documenting from one to nine of them. Actigraphic measures were employed in three studies, the others used parent-reported questionnaires or sleep diaries. Maltreated children’s sleep was described and/or compared to non-maltreated children’s sleep, or an intervention group, showing mild differences. As for associations between sleep regulation and behavior problems, five studies investigated it and performed correlational or linear regression analyses between sleep and behavior problems, revealing some significant associations. No study was found about associations between sleep ecology and sleep regulation, between sleep ecology and behavior problems, or between these three variables. In conclusion, literature about sleep ecology, sleep regulation, and their associations with behavior problems are far more scarce in maltreated preschoolers than in non-maltreated ones. At present, there is especially a paucity of research about sleep ecology and the association between sleep ecology and sleep regulation in maltreated preschoolers, while studies on non-maltreated children showed sleep ecology plays a major role in sleep regulation. In addition, as sleep regulation is measured in many different ways among the studies, it is difficult to compare their findings. Finally, it seems necessary that research fill these gaps, as recommendations could be made to clinicians working with maltreated preschoolers regarding the use of sleep ecology and sleep regulation as intervention tools.

Keywords: maltreated preschoolers, sleep ecology, sleep regulation, behavior problems

Procedia PDF Downloads 152

Authors: Artem Kim, Clara Savary, Christele Dubourg, Wilfrid Carre, Houda Hamdi-Roze, Valerie Dupé, Sylvie Odent, Marie De Tayrac, Veronique David

Abstract:

Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from the incomplete separation of the two cerebral hemispheres. It is characterized by a wide phenotypic spectrum and a high degree of locus heterogeneity. Genetic defects in 16 genes have already been implicated in HPE, but account for only 30% of cases, suggesting that a large part of genetic factors remains to be discovered. HPE has been recently redefined as a complex multigenic disorder, requiring the joint effect of multiple mutational events in genes belonging to one or several developmental pathways. The onset of HPE may result from accumulation of the effects of multiple rare variants in functionally-related genes, each conferring a moderate increase in the risk of HPE onset. In order to decipher the genetic basis of HPE, unconventional patterns of inheritance involving multiple genetic factors need to be considered. The primary objective of this study was to uncover possible disease causing combinations of multiple rare variants underlying HPE by performing trio-based Whole Exome Sequencing (WES) of familial cases where no molecular diagnosis could be established. 39 families were selected with no fully-penetrant causal mutation in known HPE gene, no chromosomic aberrations/copy number variants and without any implication of environmental factors. As the main challenge was to identify disease-related variants among a large number of nonpathogenic polymorphisms detected by WES classical scheme, a novel variant prioritization approach was established. It combined WES filtering with complementary gene-level approaches: transcriptome-driven (RNA-Seq data) and clinically-driven (public clinical data) strategies. Briefly, a filtering approach was performed to select variants compatible with disease segregation, population frequency and pathogenicity prediction to identify an exhaustive list of rare deleterious variants. The exome search space was then reduced by restricting the analysis to candidate genes identified by either transcriptome-driven strategy (genes sharing highly similar expression patterns with known HPE genes during cerebral development) or clinically-driven strategy (genes associated to phenotypes of interest overlapping with HPE). Deeper analyses of candidate variants were then performed on a family-by-family basis. These included the exploration of clinical information, expression studies, variant characteristics, recurrence of mutated genes and available biological knowledge. A novel bioinformatics pipeline was designed. Applied to the 39 families, this final integrated workflow identified an average of 11 candidate variants per family. Most of candidate variants were inherited from asymptomatic parents suggesting a multigenic inheritance pattern requiring the association of multiple mutational events. The manual analysis highlighted 5 new strong HPE candidate genes showing recurrences in distinct families. Functional validations of these genes are foreseen.

Keywords: complex genetic disorder, holoprosencephaly, multiple rare variants, whole exome sequencing

Procedia PDF Downloads 203

Authors: May Zaw, Amber Latif, William Lim

Abstract:

Postpartum dyspnea can be due to many causes, such as pulmonary embolism, amniotic fluid embolism, and peripartum cardiomyopathy, but less frequently due to acute pulmonary edema. The incidence of acute pulmonary edema during pregnancy and in the postpartum period has been estimated to be around 0.08%. About half of the cases are attributed to tocolytic therapy. Herein, we present a case of a young woman presenting with acute hypoxia after induction of labor with oxytocin and found to have acute pulmonary edema. This case aims to illustrate and add to a growing body of literature regarding oxytocin-induced acute pulmonary edema and highlights the importance of recognizing the rare complication of oxytocin and necessary interventions to avoid complications. Oxytocin-induced pulmonary edema is a relatively uncommon condition, but physicians should have a high index of suspicion to initiate timely intervention and avoid fetal complications.

Keywords: pulmonary, pregnancy, oxytocin, postpartum

Procedia PDF Downloads 90