Search results for: familial

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: Elena Even-Simkin

Abstract:

Attention Deficit Hyperactivity Disorder (ADHD) is one of the most frequently diagnosed disorders in children, but in many cases, the diagnosis is not provided until adulthood. Diagnosing adults with ADHD faces different obstacles due to numerous factors, such as educational or under-resourced familial environment, high intelligence compensating for stress-inducing difficulties, and additional comorbidities. Undiagnosed children and adolescents with ADHD may become undiagnosed adults with ADHD, who miss out on the early treatment and may experience significant social and pragmatic difficulties, leading to functional problems that subsequently affect their lifestyle, education, and occupational functioning. The proposed study presents a cost-effective and unique consideration of the pragmatic aspect among adults with ADHD. It provides a systematic and standardized evaluation of the pragmatic level in adults with ADHD, based on a comprehensive approach introduced by Arcara & Bambini (2016) for the assessment of pragmatic abilities in neuro-typical individuals. This assessment tool can promote the inclusion of pragmatic skills in the cognitive profile in the diagnostic practice of ADHD, and, thus, the proposed instrument can help not only identify the pragmatic difficulties in the ADHD population but also advance effective intervention programs that specifically focus on pragmatic skills in the targeted population.

Keywords: ADHD, adults, assessment, pragmatics

Procedia PDF Downloads 75

Authors: Sabahattin Comertpay, Sandra Pastorino, Rosanna Mezzapelle, Mika Tanji, Oriana Strianese, Andrea Napolitano, Tracey Weigel, Joseph Friedberg, Paul Sugarbaker, Thomas Krausz, Ena Wang, Amy Powers, Giovanni Gaudino, Harvey I. Pass, Fatmagul Ozcelik, Barbara L. Parsons, Haining Yang, Michele Carbone

Abstract:

Tumors are thought to be monoclonal in origin. This paradigm arose decades ago, primarily from the study of hematopoietic malignancies and sarcomas. The clonal origin of malignant mesothelioma (MM), a deadly cancer resistant to the current therapies, has not been investigated. Examination of the pleura from patients with MM shows often the presence of multiple pleural nodules, raising the question of whether they represent independent or metastatic growth processes. To investigate the clonality patterns of MM, we used the HUMARA (Human Androgen Receptor) assay to examine 14 sporadic and 2 familial Malignant Mesotheliomas (MM). Of 16 specimens studied, 15 were informative and 14/15 revealed two electrophoretically distinct methylated HUMARA alleles, indicating a polyclonal origin for these tumors. This discovery has important clinical implications, because an accurate assessment of tumor clonality is key to the design of novel molecular strategies for the treatment of MM.

Keywords: malignant mesothelioma, clonal origin, HUMARA, sarcomas

Procedia PDF Downloads 458

Authors: Ghoul Rachid Brahim

Abstract:

Introduction: Degenerative disc disease is a process of premature and accelerated deterioration of the intervertebral disc; it is of multifactorial origin and is responsible for chronic low back pain. Objectives: Determine an epidemiological profile of patients with painful lumbar degenerative disc disease. Patients and methods: We performed a prospective study of 104 patients operated on for degenerative painful lumbar disc disease over a period of 25 months. The parameters analyzed were: age, sex, Body Mass Index (BMI), comorbidities, family history of low back pain, and difficulty with professional activity. Results: The average age was 43.3 years, with a clear predominance of men: 72 men for 32 women, the average BMI was 26.80Kg / m2, and 63.5% of the patients were overweight. The occurrence of disc degeneration in pathological conditions was noted in 14.4% of cases. The notion of familial low back pain was found in 49% of cases. The majority of patients perform more or less arduous work (51%) in the cases. Conclusion: In our series, degenerative painful lumbar disc disease predominates in the male subject, active obese who performs more or less painful work, in whom we find a family history of low back pain.

Keywords: degenerative disc disease, low back pain, body mass index, disque intervertebrale

Procedia PDF Downloads 92

Authors: Noah Erskine, Jaime Barratt, John Cairney

Abstract:

The current study aims to provide an in-depth analysis and extension of the Environmental Stress Hypothesis (ESH) framework, focusing on the complex interplay between poor motor skills and internalising problems like anxiety and depression. Using an integrative research review methodology, this study synthesizes findings from 38 articles, both empirical and theoretical, building upon the foundational work of the model. The hypothesis posits that poor motor skills serve as a primary stressor, leading to internalising problems through various secondary stressors. A rigorous comparison of data was conducted, considering study design, findings, and methodologies - while giving special attention to variables such as age, sex, and comorbidities. The study also enhances the ESH framework by introducing resource buffers, including optimism and familial support, as additional influencing factors. This multi-level approach yields a more nuanced and comprehensive ESH framework, highlighting the need for future studies to consider intersectional variables and how they may vary across various life stages.

Keywords: motor coordination, mental health, developmental coordination disorders, paediatric comorbidities, obesity, peer problems

Procedia PDF Downloads 75

Authors: Sze Wai Veera Fung, Peter W. Ferretto

Abstract:

Since the economic reform in 1980s, many men and women of the southern dialect Dong minority have migrated to coastal cities for employment. Responding to the outgoing providers of the families, women, especially those at the middle age, resort to the informal home-based services and goods production for income generation. Homework, therefore, becomes a key economic strategy in supporting the household expenses in rural China, where formal employment is often inadequate for local women. This paper seeks to examine the intersection between gender and household strategy in the broader economic context of rural China. Based on the interviews and site survey in Tongdao Dong Autonomous County, the study analyses the variety of the home-based production activities, the experience of women in the production process, and the impact on familial relation and gender division of labor at home. The objective of this research is to advance the understanding of the informal economic landscape in the contemporary rural China, through which an alternative and possibly a more appropriate mode of development can be investigated.

Keywords: gender relation, home-based production, household strategy, informal economy, rural China, dong minority

Procedia PDF Downloads 128

Authors: Marcus Smith

Abstract:

DNA profiling has made a valuable contribution to criminal investigations over the past thirty years. Direct matching DNA profiles from a crime scene and suspect, or between a suspect and a database remain of great importance to crimes such as murder, assault, and property theft. As scientific and technological advancement continues, a wide range of new DNA profiling applications has been developed. The application of new techniques involves an interesting balancing act between admitting probative evidence in a criminal trial, evaluating its degree of relevance and validity, and limiting its prejudicial impact. The impact of new DNA profiling applications that have significant implications for law enforcement and the legal system can be evaluated through a review of relevant case law, legislation and the latest empirical evidence from jurisdictions around the world including the United States, United Kingdom, and Australia. There are benefits in further examining the implications of these new developments, including how the criminal law can best be adapted to ensure that new technology is used to enhance criminal investigation and prosecution while ensuring it is applied in a measured way that respects individual rights and maintains principles of fairness enshrined in the legal system.

Keywords: criminal procedure, forensic evidence, DNA profiling, familial searching, phenotyping

Procedia PDF Downloads 132

Authors: Farzad Jalilian, Mehdi Mirzaei Alavijeh

Abstract:

Background: Substance addiction is one of the major worldwide problems that destroys economy, familial relationships, and the abuser’s career and has several side effects; in the meantime drug injection due to the possibility of shared use of syringes among drug users could have multiple complications to be followed. The purpose of this study was to determine the prevalence of drug injection among male prisoners in Kermanshah city, the west of Iran. Methods: In this cross-sectional study 615 male prisoners were randomly selected to participate voluntarily in the study. Participants filled out a writing self-report questionnaire. Data were analyzed by the SPSS software (ver. 21.0) at 95% significant level. Results: The mean age of respondents was 31.13 years [SD: 7.76]. Mean initiation age for drug use was 14.36 years (range, 9-34 years). Almost, 39.4 % reported a history of drug use before prison. Opium (33.2%) and crystal (27.1%) was the most used drug among prisoners. Furthermore, 9.3 % had a history of injection addiction. There was a significant correlation between age, crime type, marital status, economic status, unprotected sex and drug injection (P < 0.05). Conclusion: The low age of drug abuse and the prevalence of drug injection among offenders can be as a warning for responsible; in this regard, implementation of prevention programs to risky behavior and harm reduction among high-risk groups can follow useful results.

Keywords: substance abuse, drug injection, prison, Iran

Procedia PDF Downloads 485

Authors: Adaku Thelma Olatise

Abstract:

Mental health disparities among women from diverse ethnic, cultural, and religious backgrounds remain a pressing concern, particularly as current psychotherapeutic models often fail to address the unique challenges these groups face. This is of particular concern since epidemiological studies across various countries and cultures consistently demonstrate higher prevalence rates of common mental disorders amongst these groups of women because of a lack of access to culturally oriented psychotherapeutic services. This literature review aims to examine how CCAs in psychotherapy can address the specific ethnic, cultural, and religious challenges women encounter in accessing mental health care. A search of relevant articles was conducted through PsycARTICLES and PubMed databases, using terms such as ‘mental health’, ‘women’, ‘culture’, and ‘ethnic minorities’. Supplementary searches on Google Scholar were also performed to capture literature not covered by traditional databases. While the importance of cross-cultural approaches in psychotherapy has become more apparent because people from diverse ethnic backgrounds inevitably perceive the world through different lenses, influencing their interpretations of human behavior and norms, there is a notable gap in the literature in understanding the influences of using of CCAs in psychotherapy amongst women of an ethnic minority. This gap not only reflects a poor understanding of the complex stressors faced by these women—such as familial, communal, and societal expectations—but also highlights the lack of support and culturally adapted interventions available to them. Even though scholars have posited that aligning treatment approaches with patients' cultural backgrounds is important to enhance therapeutic effectiveness, and the acknowledgment of culture is crucial in psychotherapy theory and practice. As well as the increasing global focus on psychotherapy applications that integrate non-Western practices, such as spiritual healing and community-based interventions, the adaptation of these approaches in mainstream mental health care has remained limited. This review found that the expectations and experiences of ethnic minority women were heavily influenced by family and community pressures. However, there were limited evidence-based, culturally oriented psychotherapeutic interventions tailored to ethnic minority women. This gap extends to inadequate representation of minority groups in clinical research, as well as a lack of culturally validated mental health outcome measures. Furthermore, studies have shown that psychotherapeutic models have largely been Western-oriented and Euro-centric because of socially constructed hierarchies. The origin of psychology from the Western world has predominantly reflected Western cultural traditions, shaped by historical, linguistic, and sociopolitical influences. These factors have led to a lack of recognition of therapeutic approaches from minority ethnic groups and the biases that emanate from hegemonic cultural beliefs and power dynamics influence the decisions about which psychotherapeutic modalities to integrate and practice. Therefore, this plethora of factors adds to the challenges women from ethnically and culturally diverse backgrounds face in accessing mental health services at the individual, familial, community, and societal levels. In conclusion, a cross-cultural approach is urgently needed within psychotherapy to address these challenges, ensuring that treatment frameworks are both culturally sensitive and gender responsive. Only by considering the lived experiences of minority women, particularly in relation to their cultural and religious contexts, can mental health services provide the appropriate care necessary to support their well-being.

Keywords: mental health, women, culture, ethnicity

Procedia PDF Downloads 24

Authors: Norasmah Othman, Suzana Mohamed, Salpiah Suradi

Abstract:

Copreneurship is a term used to describe the business pattern of operations run by married couples who share commitment, goals, and responsibilities in handling a business. Research conducted overseas showed that copreneurship business activities grew quickly and played a role in elevating families’ and nations’ socio-economic standards. In Malaysia, copreneurship has long been cultivated by spouses. Thus, this study aimed to explore the factors that motivate married partners to start a copreneurship business, and who is the dominant partner in the management of this business. The study participants are four entrepreneurial couples who are SME business operators selected through purposive sampling. In-depth interviews and direct observation were used as methods of measurement for triangulation of qualitative data in this study. The findings of the interviews were administered using NVivo 8.0 software. The result shows that freedom is a key factor that drives entrepreneurs to set up copreneurship businesses, and that the husband dominates the management aspects of the business. The study gives an overview of the parties involved in entrepreneurship to provide understanding of the copreneurship concept as it is practiced. This study provides academic value by creating understanding of the importance of a harmonious family institution specifically for forming entrepreneurs in the familial environment in Malaysia.

Keywords: copreneurs, copreneurship, business management, enterprise

Procedia PDF Downloads 302

Authors: Louisa Browne Kirk

Abstract:

In recent press interviews to promote Portrait de la jeune fille en feu (2019, translated to Portrait of a Lady on Fire in English), director and screenwriter Céline Sciamma and actors Adèle Haenel and Noémie Merlant repeatedly state that they understand the film as (if not uniquely, then unusually) produced via and supportive of ‘the female gaze’. Such a way of seeing stands in opposition to ‘the male gaze’, first theorised by Laura Mulvey as the way in which the female figure is a bearer, not maker, of meaning, a silent signifier through and against whom the male creator/viewer produces his fantasies and obsessions. What, then, is the female gaze? How does a woman produce meaning in and through film? Portrait de la jeune fille en feu and another very recent film, Little Women (2019, directed by Greta Gerwig), are unlikely companion films that understand the female gaze to be the act of one woman looking at another woman, a looking that is mediated through the production of art. In Sciamma’s film this looking is sexual and mediated through painting and in Gerwig’s film looking is familial and mediated through writing. In the schema of these films, art, love, looking and meaning are produced through collaboration. The painted and the painter, the written and the writer, are no longer rendered as subject and object but as dual creators, both always seeing and seen. The gaze of the cinematic woman, mediated through shared artistic practice, is ‘the desire-that-gives’.

Keywords: female gaze, Gerwig, Sciamma, shared artistic practice

Procedia PDF Downloads 182

Authors: Kathie Records, R. Jeanne Ruiz, Kimberly Ayers, Rebecca Pasillas

Abstract:

Background: Preterm births of less than 37 weeks gestation occur disproportionately to Hispanics living along the U.S.-Mexico border. Prematurity has devastating and costly effects on children, families and the health care system. Few preventive interventions have been tested for this vulnerable group. Objectives: To present the modeling and pilot testing of the theory-based Mastery Lifestyle Intervention (MLI), designed to reduce and prevent PTB among Mexican American women (the terms Hispanics or Latinas will also be used to represent this group) living in the United States. Design and Methods: The conceptualization of the problem of preterm births and the available literature underpinning the mastery lifestyle intervention will be reviewed. The lifestyle intervention includes foundational components of problem solving therapy and acceptance and commitment therapy. Findings from implementation of a one-group pilot test and focus group evaluated the feasibility and acceptability of the MLI. Summary: Participants found the MLI to be feasible and acceptable, and reported perceiving improved health status and familial relationships. Suggestions were provided for modifications prior to efficacy testing. The MLI appears to be a theoretically and empirically grounded intervention that holds promise for preventing preterm births among Latinas.

Keywords: birth, Hispanic, intervention, stress

Procedia PDF Downloads 369

Authors: Bhavini Patel, Aslihan Ugun-Klusek, Ellen Billet

Abstract:

The two main contributing factors to familial and idiopathic form of Parkinson’s disease (PD) are oxidative stress and altered proteolysis. Monoamine oxidase-A (MAO-A) plays a significant role in redox homeostasis by producing reactive oxygen species (ROS) via deamination of for example, dopamine. The ROS generated induces chemical modification of proteins resulting in altered biological function. The ubiquitin-proteasome system, which consists of three different types or proteolytic activity, namely “chymotrypsin-like” activity (CLA), “trypsin-like” activity (TLA) and “post acidic-like” activity (PLA), is responsible for the degradation of ubiquitinated proteins. Defects in UPS are known to be strongly correlated to PD. Herein, the effect of ROS generated by MAO-A on proteasome activity and the effects of proteasome inhibition on MAO-A protein levels in WT, mock and MAO-A overexpressed (MAO-A+) SHSY5Y neuroblastoma cell lines were investigated. The data in this study report increased proteolytic activity when MAO-A protein levels are significantly increased, in particular CLA and PLA. Additionally, 20S proteasome inhibition induced a decrease in MAO-A levels in WT and mock cells in comparison to MAO-A+ cells in which 20S proteasome inhibition induced increased MAO-A levels to be further increased at 48 hours of inhibition. This study supports the fact that MAO-A could be a potential pharmaceutical target for neuronal protection as data suggests that endogenous MAO-A levels may be essential for modulating cell death and survival.

Keywords: monoamine oxidase, neurodegeneration, Parkinson's disease, proteasome

Procedia PDF Downloads 135

Authors: Hyunsik Park

Abstract:

Objective: To provide information of charged nursing care facility for helping to establish geriatric health care policy, and to figure out which factors would be the main determinants for the choice of it. Method: 46 males and 53 females, and the same number of their caregivers admitted into the charged nursing care facility were recruited for intensive interview including personal information, disease information, and economic, familial, marital and emotional statuses. This is a cross-sectional study and we analyzed the data qualitatively. Results: Patients had 3.2 diseases and a hospitalization for 2.3 years on average. They were consists of 46 singles (46.9%), 8 unmarried (8.2%), 5 divorced (5.1%) and 32 married (32.7%). More than two third (70.1%) were supported by their eldest son or daughter. Mostly, the family caregivers decided to admit into the facilities by the doctor’s recommendation (68.4%). When they made a choice for a facility, most of them (42.9%) considered environmental and sanitary conditions. According to their expectation for management in nursing care facility, most caregivers (59.2%) wanted simple-staying for the duration, but most patients (61.3%) expected to be home after taking comprehensive rehabilitation. Three-quarter of the caregivers would agree to use nursing care facilities in the future, if they would be the same situation. Conclusion: Life style and environment are rapidly changing. In the near future, we need lots of the charged nursing care facilities for the old, thus this study can be the good reference for the preparing upcoming aged and super-aged society.

Keywords: nursing care facility, aged society, qualitative analysis, health

Procedia PDF Downloads 474

Authors: Marta Tryzna, Shahd Al Shammari

Abstract:

Though Modern Standard Arabic (MSA) is the only official language in GCC states, including Kuwait, and traditionally the preferred vehicle for literacy in the Arab countries, recent studies in Qatar and the UAE observe a growing role of English, particularly in literacy and knowledge transmission contexts. The present study examines the attitudes to Arabic and English and the use of both languages in literacy-related domains based on a sample of bilingual Arabic-English undergraduates (N=522) at a private university with EMI in Kuwait. The results indicate that Arabic (Kuwaiti dialect) is associated with familial interactions, Arabic-English bilingualism predominates in interactions with classmates, friends, on social media and at work, while English is prevalent in literacy-related contexts such as reading books, magazines, or online material, domains traditionally associated with MSA. Attitudes towards Arabic and English are equally positive according to the majority of the respondents, who report being comfortable expressing themselves and projecting their identity in both languages. No statistically significant differences were found comparing the importance of Arabic and English in the sample. Future trends were identified based on high agreement on the importance of speaking English with children and low agreement on speaking only Arabic at home. The study corroborates recently observed trends in the GCC favoring bilingualism across personal, academic and professional domains, with English becoming the preferred language of literacy among young bilingual Kuwaitis.

Keywords: bilingual, English, Arabic, EMI, identity

Procedia PDF Downloads 140

Authors: Ebtissam Saleh Al-Meghaiseeb, Abdulaziz Al Masood, Abdulrahman Al-Robayan, Reem Al-Amro, Misbahul Arfin, Abdulrahman Al Asmari

Abstract:

Objective: The objective of this study was to evaluate the role of apolipoprotein E (APOE) polymorphism on the onset of inflammatory bowel disease (IBD) in Saudi patients. Methods: APOE gene was genotyped to evaluate the frequencies of the alleles and genotypes in Saudi subjects, including IBD patients (n=200) and matched controls (n=200), using APOE StripAssayTM kit (ViennaLab Labordiagnostika GmbH, Vienna, Austria). Results: The frequencies of alleles and genotypes of APOE differed in patients and controls. The APOE allele ε2 and ε4, genotype ε2/ε3 and ε2/ε4 were significantly higher in the IBD patients than the healthy controls. The frequencies of ε3 allele and ε3/ε3 genotype were higher in the control group as compared to patients. The higher prevalence of allele ε2 and ε4 allele in patients compared to that in controls suggested that ε2 and ε4 alleles may increase the risk of IBD. Results also indicated that APOE ε4 allele was associated with early age at onset of IBD. On the other hand, the decreased frequencies of ε3 allele and ε3/ε3 genotype in patients as compared to those in the controls suggested a protective effect of APOE ε3 for IBD susceptibility. In this study, the frequency distribution of APOE alleles and genotypes was not affected by the gender or type of IBD (familial or sporadic). Conclusion: This study indicates that APOE polymorphism plays a significant role in developing IBD and early age of onset in Saudi patients. However, further studies with large-size sample are warranted to confirm this relationship.

Keywords: APOE, polymorphism, IBD, saudis

Procedia PDF Downloads 112

Authors: Annisa Siu, Ping Zou

Abstract:

Background: Existent literature addressing Asian American children and adolescents reveals that this population is experiencing rates of depression comparable to those of European American and other ethnic minority youths. Within the last decade, increased attention has been given to Asian American adolescent mental health. Methods: 44 articles were extracted from Pubmed, PsycINFO, EMBASE, and Proquest CINAHL. Data were subject to thematic analyses and categorized into factors under individual, familial, and community levels. Results: Of all the individual factors, age and gender were the most supported in their relationship with depressive symptoms. Likewise, living situations, parent-child relations, peer relations, and broader environmental factors were strongly evidenced. The remaining psychosocial factors faced contrary evidence or were insubstantially addressed in the empirical literature. Discussion: The identified psychosocial factors within this study offer a starting point for future research to examine what factors should be included in formal or informal methods of screening/consultations. Clinicians should aim to understand the cultural influences specific to Asian American adolescents, particularly the central role that family relations may have on their depressive symptoms. Conclusion: Low awareness of culturally linked expressions of psychological distress can lead to misdiagnosis or under-diagnosis of depression in Asian American youth. Further evidence is needed to clarify the relationship of psychosocial factors linked to Asian American adolescent depressive symptoms.

Keywords: adolescent, Asian American, depression, psychosocial factors

Procedia PDF Downloads 121

Authors: Mrunmayee Das

Abstract:

This study aims to explore the film 'Pyasa' directed by actor-director Guru Dutt, filmed during the 1950’s golden age of Hindi cinema. 'Pyasa' was filmed after a decade of India being a new nation and narrates the world-view of a poet dressed in western ideals, tasting modernity, uprooted from his familial and social moorings causing friction of being between survival and self- expression. The research is based on literature review to study the attitudes, particularly the post-colonial, informing the film. In terms of the structure, the relational study of the film and the historical background of that time came first. Further explorations deal with the use of image making, dialogue, and poetry in the form of songs facilitating the central theme of the human plight of poverty, not of material but of thought. The literature review establishes Dutt’s style of expressing melodic melodrama through a dance between light and shadow majorly in the form of song sequences signifying the greys of the society. It was found in this research that melodrama is created by the changing contrasts and use of close-ups. The song sequences convey the tensions of being a contemporary liberal educated youth and having to deal with the societal-ills of this world, which highlights the theme of compulsion towards self-destruction. It is concluded that Dutt’s 'Pyasa' is a autobiographical commentary on the state of a nation doing away with a borrowed identity and refashioning its own.

Keywords: cinema, Guru Dutt, post-colonial India, self-expression

Procedia PDF Downloads 115

Authors: Mariam Shah

Abstract:

‘Honour’ crime has commonly been perceived in the UK as being a ‘domestic violence’ related issue due to incidents perceived to take place within a domestic context, and commonly by familial perpetrators. The lack of differentiation between domestic violence and ‘honour’ related incidents has several negative implications. Firstly, the prevalence and extent of ‘honour’ related crime within the UK cannot be accurately quantified due to ‘honour’ incidents being classed statistically as domestic violence incidents. Secondly, lack of differentiation means that the negative stereotypical attitudes ascribed to domestic violence which has resulted in lower criminal conviction rates that are also impacting the conviction of perpetrators of ‘honour’ crime. Thirdly, ‘honour’ related crime is innately distinct from domestic violence due to the perpetrator’s resolute intent of cleansing perceived ‘shame’ in any way possible, often with the involvement and collusion of multiple perpetrators from within the family and/or community. Domestic violence is typically restricted to the ‘home’, but ‘honour’ crime can operate between national and international boundaries. This paper critically examines the current academic literature and concludes that the few similarities between domestic violence and ‘honour’ related crime are not sufficient to warrant identical treatment under UK criminal law. ‘Honour’ related crime is a distinct and stand-alone offence which should be recognised as such. The appropriate identification and treatment of ‘honour’ crime are crucial, particularly in light of the UK’s first ‘white’ honour killing which saw a young English woman murdered after being deemed to have brought ‘shame’ on her ex-boyfriend’s family. This incident highlights the possibility of ‘honour’ crime extending beyond its perceived ‘ethnic minority’ roots and becoming more of a ‘mainstream’ issue for the multi-cultural and multi-racial UK.

Keywords: differentiation, domestic violence, honour crime, United Kingdom

Procedia PDF Downloads 234

Authors: Samhani Ismail, Tahamina Begum, Faruque Reza, Zamzuri Idris, Hafizan Juahir, Jafri Malin Abdullah

Abstract:

Holy Quran, a rhymed prosed scripture has a complete literary structure that exemplifies the peak of literary beauty. Memorizing of its verses could enhance one’s memory capacity and cognition while those who are listening to its recitation it is also believed that the Holy Quran alter brainwave producing neuronal excitation engaging with cognitive processes. 28 normal healthy subjects (male =14 & female = 14) were recruited and EEG recording was done using 128-electrode sensor net (Electrical Geosics, Inc.) with the impedance of ≤ 50kΩ. They listened to Sura Fatiha recited by Sheikh Qari Abdul Basit bin Abdus Samad. Arabic news and no sound were chosen as positive and negative control, respectively. The waveform was analysed by Fast Fourier Transform (FFT) to get the power in frequency bands. Bilateral frontal (F7, F8) and temporal region (T7, T8) showed decreased power significantly in alpha wave band in respondent stimulated by Sura Fatihah recitation reflects acoustic attention processing. However, decreased in alpha power in selective attention to memorized, and in familial but not memorized language, reveals the memorial processing in long-term memory. As a conclusion, Quranic recitation relates both cognitive element of memory and language in its listeners and memorizers.

Keywords: auditory stimulation, cognition, EEG, linguistic, memory, Quranic recitation

Procedia PDF Downloads 341

Authors: Tracey Estriplet-Adams

Abstract:

This paper focuses on the influence of maternal-fetal bonding by examining attachment theory, psycho-social-cultural influences/adaptations, and maternal well-being. A systematic review methodology was used to synthesize research results to summarize current evidence that can contribute to evidence-based practices. It explores the relationship between attachment styles, prenatal attachment, and perceptions of maternal-infant bonding/attachment six weeks postpartum. It also examines the protective factors of maternal-fetal attachment development. The research explores Bowlby's attachment theory and its relevance to maternal-fetal bonding with a Black Feminist Theory lens. Additionally, it discusses the impact of perceived stress, social support, and ecological models on maternal-fetal attachment. The relationship between maternal well-being, maternal-fetal attachment, and early postpartum bonding is reviewed. Moreover, the paper specifically addresses black mothers and maternal-fetal bonding, exploring the intersectionality of race, ethnicity, class, geographic location, cultural identities, and immigration status. It considers the role of familial and partner support, as well as the relationship between maternal attachment style and maternal-fetal bonding, within the framework of attachment theory and black feminist theory. Therefore, it is imperative to center Black women's voices in research, policy, and healthcare practices. Black women are experts in their own experiences and advocate for their autonomy in decision-making regarding maternal-fetal health. By amplifying their voices, we can ensure that interventions are grounded in their lived experiences.

Keywords: maternal-fetal bonding, infant well-being, maternal-infant attachment, black mothers

Procedia PDF Downloads 75

Authors: Aisha M. Memon, Arabella Bhutto, Zahid A. Memon, Adnan Pitafi

Abstract:

This study aims to identify the existing and non-existing elements in the entrepreneurial ecosystem which include finance, institutions, laws and regulations, human capital, culture, and markets, to measure the level of effectiveness of existing elements and to develop recommendations for improving the ecosystem to facilitate the women entrepreneurs in Jamshoro, Pakistan. The nature of this study is qualitative. Data were drawn from 25 in-depth, semi-structured interviews and a focus group discussion with women entrepreneurs in rural Jamshoro, Pakistan. The findings show the lack of awareness and knowledge among women entrepreneurs about available financial resources, lack of knowledge about laws, an absence of familial and societal support for women in accessing the entrepreneurial ecosystem, the absence of business and innovation enablers in rural areas, communication gaps, and unskilled human capital. The study found that institutions like non-for-profit organizations are playing an active role in the growth of women entrepreneurs. The existing entrepreneurial ecosystem in Jamshoro can be improved through culturally sensitive coordinated approach, interventions aimed at increasing awareness about the resources, promoting an understanding about the laws and regulations, making business enablers more effective, establishing public-private partnerships, and providing the women entrepreneurs easy access to market and financial resources.

Keywords: entrepreneurship, entrepreneurship ecosystem, Pakistan, women entrepreneurs

Procedia PDF Downloads 193

Authors: Joanna Apps, Elena Markova

Abstract:

Concepts of the ideal mother and ideal mothering are disseminated through familial experiences, religious and cultural depictions of mothers and the national media. In recent years social media can also be added to the channels by which mothers and motherhood are socially constructed. However, the gulf between these depictions, -or in the case of social media ‘self-curations’ - of motherhood and lived experience has never been wider, particularly for women in disadvantaged or difficult circumstances. We report on a study of four lone mothers who were living with one or more of the following: limiting long term illness, large families, in temporary accommodation and on low incomes. The mothers were interviewed 3 times and invited to take a series of photos reflecting their lives in between each of the interviews. These photographs were used to ground the interviews in lived experience and as stimuli to discuss how the images within them compared to portrayals of mothers and motherhood that participants were exposed to on social media. The objectives of the study were to explore how mothers construct their identity in challenging and disadvantaged circumstances; to consider what their photographs of everyday life tell us about their experiences and understand the impact idealised images of motherhood have on real mothers in difficult circumstances. The results suggested that the mothers both strived to adhere to certain ideals of motherhood and acknowledged elements of these as partially or wholly impossible to achieve. The lack of depictions, in both national and social media, of motherhood that corresponded with their lived experience inhibited the mothers’ use of social media. Other themes included: lack of control, frustration and strain; and parental pride, love, humour, resilience, and hope.

Keywords: motherhood, social media, photography, poverty

Procedia PDF Downloads 158

Authors: Eriberto R. Astorga Jr., Herbert D. Vertucio, Evelyn M. Polison

Abstract:

This study was conducted in order to determine the analysis with regards to the Characterization of Self-Esteem of EARIST Students according to their origin of self-esteem and low self-esteem as well as its causes. The respondents of this study are three thousand three hundred twenty three (3,323) randomly selected students from eight colleges of EARIST such as Arts and Sciences, Education, Public Administration and Criminology, Business Administration, Hospitality Management, Architecture and Fine Arts, Engineering, and Industrial Technology. A survey was conducted by using a validated questionnaire for information gathering about respondents profile and different factors relating to self-esteem of students such as self-origin, familial and social relationship, financial situation and education. Frequency, percentage, ranking and standards deviation, standard t-test and ANOVA were applied to investigate the differences of the answers of the respondents to the origin of their self-esteem and the reasons for low self-esteem. The results revealed that there are no significant differences in the origin of their self-esteem and the reasons of low esteem as to the eight group of respondent’s. Moreover, most causes of low esteem are caused by hearing a comment or experiencing an incident that has a negative impact student mentally and emotionally, poor health, being bullied, lack of support from family, friends, and job loss, experiencing verbal and sexual abuse and are in a violent relationship, feelings of isolation, divorce, dysfunctional family, death and lack of achievement at work and at school, trying to conform to stereotypes and prove our independence from our parents.

Keywords: characterization, plan of action, profile, self-esteem

Procedia PDF Downloads 175

Authors: Ha T. T. Ly, Truc B. Truc, Hai N. Truong, Mai P. T. Nguyen, Ngoc D. Ngo, Khanh V. Tran, Hai T. Le

Abstract:

Beta thalassemia is one of the most common inherited blood disorders, which is characterized by decreased or absent in beta globin expression. Patients with Beta thalassemia whose anemia is not so severe as to necessitate transfusions are said to have thalassemia intermedia. Objective: The goal of this study is prenatal diagnosis for pregnancy woman with Beta thalassemia intermedia and her husband with Beta thalassemia carrier at high risk of Beta thalassemia major in Northern of Vietnam. Material and method: The family has a 6 years-old compound heterozygous thalassemia major for CD71/72(+A) and Hbb:c. -78A>G/nt-28(A>G) male child. The father was heterozygous for CD71/72(+A) mutation which is Beta plus type and the mother was compound heterozygosity of two different variants, namely, Hbb: c. -78A>G/nt-28(A>G) and CD26(A-G) HbE. Prenatal Beta thalassemia mutation detection in fetal DNA was carried out using multiplex Amplification-refractory mutation system ARMS-PCR and confirmed by direct Sanger-sequencing Hbb gene. Prenatal diagnoses were perfomed by amniotic fluid sampling from pregnant woman in the 16-18th week of pregnancy after the genotypes of parents of the probands were identified. Result: When amniotic fluid sample was analyzed for Beta globin gene (Hbb), we found that the genotype is heterozygous for CD71/72(+A) and CD26(A-G) HbE. This genotype is different from the 1st child of this family. Conclusion: Prenatal diagnosis helps the parents to know the genotype and the thalassemia status of the fetus, so they can have early decision on their pregnancy. Genetic diagnosis provided a useful method in diagnosis for familial members in pedigree, genetic counseling and prenatal diagnosis.

Keywords: beta thalassemia intermedia, Hbb gene, pedigree, prenatal diagnosis

Procedia PDF Downloads 383

Authors: Atousa Mirzapour Kouhdasht

Abstract:

The Great Gatsby is a 1925 novel set in the Jazz Age on Long Island by American writer F. Scott Fitzgerald. The novel depicts interactions between the first-person narrator, Nick Carraway, and his mysterious millionaire neighbor, Jay Gatsby, and his obsession to reunite with his former lover, Daisy Buchanan. During World War II, the Council on Books in Wartime sent free copies to American soldiers, so the novel experienced an unanticipated wave in popularity. This newfound popularity brought up critical literary re-examination. The work soon became a part of most American high school curricula and, as a result, a part of American popular culture. Multiple adaptations, on stage and screen, followed in the succeeding decades. The novel's treatment of social class, old money versus those who do not have familial wealth, gender, race, and its cynical attitude towards the American Dream is now a matter of discussion. The old money does not allow the new money to present itself due to its fear of changes. Although Gatsby is now a wealthy man who throws many parties, he is not considered equal to Thomas Buchanan, Daisy's husband, a millionaire who lives in East Egg. Even Gatsby feels shame when it comes to the history of his family, who was not actually from the bourgeoisie. Furthermore, the patriarchal system restrains women's behavior in society and puts them in the second position after men to follow what men ask them to do. The female characters are not able to make decisions for themselves. So the researcher uses The Great Gatsby, patriarchal theory, and Marxist feminist perspective to investigate the influence of gender and social status on women's position in a patriarchal society.

Keywords: Marxist, feminist, class status, gender, the American dream, The Great Gatsby, Fitzgerald

Procedia PDF Downloads 121

Authors: L. Lamola, E. Manolas, A. Krause

Abstract:

Background: The incidence of childhood cancer incidence is increasing gradually in low-middle income countries, such as South Africa. Globally, there is an extensive range of familial- and hereditary-cancer syndromes, where underlying germline variants increase the likelihood of developing cancer in childhood. Next-Generation Sequencing (NGS) technologies have been key in determining the occurrence and genetic contribution of germline variants to paediatric cancer development. We aimed to design and evaluate a candidate gene panel specific to inherited cancer-predisposing genes to provide a comprehensive insight into the contribution of germline variants to childhood cancer. Methods: 32 paediatric patients (aged 0-18 years) diagnosed with a malignant tumour were recruited, and biological samples were obtained. After quality control, DNA was sequenced using an ion Ampliseq 50 candidate gene panel design and Ion Torrent S5 technologies. Sequencing variants were called using Ion Torrent Suite software and were subsequently annotated using Ion Reporter and Ensembl's VEP. High priority variants were manually analysed using tools such as MutationTaster, SIFT-INDEL and VarSome. Putative identified candidates were validated via Sanger Sequencing. Results: The patients studied had a variety of cancers, the most common being nephroblastoma (13), followed by osteosarcoma (4) and astrocytoma (3). We identified 10 pathogenic / likely pathogenic variants in 10 patients, most of which were novel. Conclusions: According to the literature, we expected ~10% of our patient population to harbour pathogenic or likely pathogenic germline variants, however, we reported about 3 times (~30%) more than we expected. Majority of the identified variants are novel; this may be because this is the first study of its kind in an understudied South African population.

Keywords: Africa, genetics, germline-variants, paediatric-cancer

Procedia PDF Downloads 138

Authors: Huong M. T. Nguyen, Hoa A. P. Nguyen, Mai P. T. Nguyen, Ngoc D. Ngo, Van T. Ta, Hai T. Le, Chi V. Phan

Abstract:

Wilson’s disease (WD) is an autosomal recessive disorder of the copper metabolism, which is caused by a mutation in the copper-transporting P-type ATPase (ATP7B). The mechanism of this disease is the failure of hepatic excretion of copper to bile, and leads to copper deposits in the liver and other organs. The ATP7B gene is located on the long arm of chromosome 13 (13q14.3). This study aimed to investigate the gene mutation in the Vietnamese patients with WD, and make a presymptomatic diagnosis for their familial members. Forty-three WD patients and their 65 siblings were identified as having ATP7B gene mutations. Genomic DNA was extracted from peripheral blood samples; 21 exons and exon-intron boundaries of the ATP7B gene were analyzed by direct sequencing. We recognized four mutations ([R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G) in the sum of 20 detectable mutations, accounting for 87.2% of the total. Mutation S105* was determined to have a high rate (32.6%) in this study. The hotspot regions of ATP7B were found at exons 2, 16, and 8, and intron 14, in 39.6 %, 11.6 %, 9.3%, and 7 % of patients, respectively. Among nine homozygote/compound heterozygote siblings of the patients with WD, three individuals were determined as asymptomatic by screening mutations of the probands. They would begin treatment after diagnosis. In conclusion, 20 different mutations were detected in 43 WD patients. Of this number, four novel mutations were explored, including [R723=; H724Tfs*34], V1042Cfs*79, D1027H, and IVS6+3A>G. The mutation S105* is the most prevalent and has been considered as a biomarker that can be used in a rapid detection assay for diagnosis of WD patients. Exons 2, 8, and 16, and intron 14 should be screened initially for WD patients in Vietnam. Based on risk profile for WD, genetic testing for presymptomatic patients is also useful in diagnosis and treatment.

Keywords: ATP7B gene, mutation detection, presymptomatic diagnosis, Vietnamese Wilson’s disease

Procedia PDF Downloads 380

Authors: Nicole Banton

Abstract:

The maternal and infant mortality rate of Blacks is three times that of Whites in the US. Research indicates that breastfeeding lowers both. In this paper, the researcher examines how the ideas that Black/African American mothers had about breastfeeding before, during, and after pregnancy (postpartum) affected whether or not they initiated breastfeeding. The researcher used snowball sampling to recruit thirty African-American mothers from the Orlando area. At the time of her interview, each mother had at least one child who was at least three years old. Through in-depth face-to-face interviews, the researcher investigated how mothers’ healthcare providers affected their decision-making about infant feeding, as well as how the type of birth that she had (e.g., preterm, vaginal, c-section, full term) affected her actual versus idealized infant feeding practice. Through our discussions, we explored how pre-pregnancy perceptions, birth and postpartum experiences, social support, and the discourses surrounding motherhood within an African-American context affected the perceptions and experiences that the mothers in the study had with their infant feeding practice(s). Findings suggest that the pregnancy and birth experiences of the mothers in the study influenced whether or not they breastfed exclusively, combined breastfeeding and infant formula use, or used infant formula exclusively. Specifically, the interplay of invocation of agency (the ability to control their bodies before, during, and after birth), birth outcomes, and the interaction that the mothers in this study had with resources, human and material, had the highest impact on the initiation, duration, and attitude toward breastfeeding.

Keywords: African American mothers, maternal health, breastfeeding, birth, midwives, obstetricians, hospital birth, breast pumps, formula use, infant feeding, lactation consultant, postpartum, vaginal birth, c-section, familial support, social support, work, pregnancy

Procedia PDF Downloads 82

Authors: N. Haj Salem, M. Belhadj, S. Ben Jomâa, S. Saadi, R. Dhouieb, A. Chadly

Abstract:

Introduction: Sudden death in young is seen as a dramatic phenomenon requiring knowledge of its impact and determining their causes. Aim: We aim to study the epidemiological characteristics of sudden death in young, and to discuss the mechanism and the importance of autopsy in these situations. Material and methods: We performed a retrospective cohort study using autopsy data from the department of forensic medicine at the University Hospital of Fattouma Bourguiba, Monastir-Tunisia. A review of all autopsies performed during 23 years was done. In each case, clinical information and circumstances of death were obtained. We have included all sudden death in persons aged between 1 year and 35 years for the male and from one year to 45 years for female. We collected 312 cases of sudden death during the studied period. The collected data were processed using SPSS 20. The significance level was set at 0.05. Results: Thirty-two cases of cardiac ischemic sudden death have been collected. Myocardial infarction was the second cause of sudden death in young patients. There was a male predominance. The most affected subjects were aged between 25-45 years. The death occurred more frequently at rest. Coronary artery disease has been discovered in twenty-four cases (75%). A severe coronary artery disease was observed in two children with medical history of familial hypercholesterolemia. The myocardial infarction occurred in healthy coronary arteries in eight cases. An anomalous course of coronary arteries, in particular, myocardial bridging, was found in eight cases (25%). Toxicological screening was negative in all cases. Second cause of death was hypertrophic cardiomyopathy. Neurological and respiratory causes of death were implicated respectively in 10% and 15%. Conclusion: Identifying epidemiological characteristics of sudden death in this population is important for guiding approaches to prevention that must be based on dietary hygienic measures and the control of cardiovascular risk factors.

Keywords: autopsy, cardiac death, sudden death, young

Procedia PDF Downloads 239