Search results for: familial

Authors: Mohsen Amiri

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This study aimed at investigating the relationship between familial functioning, child characteristics, demographic variables and parenting stress and mental health among parents of children with mental disabilities. 200 parents (130 mothers and 70 fathers) were studied and they completed the Parenting Stress Index, General Health Questionnaire, Family Assessment Device and demographic questionnaires for parents and children. Data were analyzed using correlation and regression analysis. Regression analysis showed that child characteristics, familial functioning and parents demographic factors could predict 8, 4 and 17 percent of variance in parental stress and 3.6, 16 and 10 percent of variance in mental health, respectively. Familial functioning, child characteristics and parental demographic variables correlated with mental health and parental stress and could predict them.

Keywords: parenting stress, mental health, mentally disabled children, familial functioning, demographic variables

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Authors: Seraj Makkawi, Abdulaziz A. Alqarni, Himyan Alghaythee, Suzan Y. Alharbi, Anmar Fatani, Reem Adas, Ahmad R. Abuzinadah

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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that involves both the upper and lower motor neurons. Familial ALS, including superoxide dismutase 1 (SOD1) mutation, accounts for 5-10% of all cases of ALS. Typically, the symptoms of ALS are purely motor, though coexistent sensory symptoms have been reported in rare cases. In this report, we describe the case of a 47- year-old man who presented with progressive bilateral lower limb weakness and numbness for the last four years. A nerve conduction study (NCS) showed evidence of coexistent axonal sensorimotor polyneuropathy in addition to the typical findings of ALS in needle electromyography. Genetic testing confirmed the diagnosis of familial ALS secondary to the SOD1 genetic mutation. This report highlights that the presence of sensory symptoms should not exclude the possibility of ALS in an appropriate clinical setting.

Keywords: Saudi Arabia, polyneuropathy, SOD1 gene mutation, familial amyotrophic lateral sclerosis, amyotrophic lateral sclerosis

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Authors: Mehravar Javid, Katherine Marshall Woods, Joseph Kosowsky, Anna Missner

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In this paper, "Life and a Day" is analyzed psychoanalytically with an emphasis on the ways by which addiction is influenced by personal psychology and familial ties. It explores the influence of parenting on one's sense of self and the function of therapeutic alliances in the treatment of addiction. The analysis also observes the main characters, with a special emphasis on Somayeh, who represents the continuation of her father's role in the family and faces identity and autonomy issues in the face of familial responsibilities. In addressing addiction, the document emphasizes the significance of comprehending family dynamics and individual psychological factors, emphasizing the interaction between personal trauma, family roles, and recovery.

Keywords: addiction, autonomy, family dynamics, identity, life and a day, psychoanalytic

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Authors: Andrew D. Henshaw

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The research examines the influence of familial and kinship based leadership on the resilience of politically violent organizations. Organizations of this type frequently fight in the same conflicts though are called 'terrorist' or 'insurgent' depending on political foci of the time, and thus different approaches are used to combat them. The research considers them correlated phenomena with significant overlap and identifies strengths and vulnerabilities in resilience processes. The research employs paired case studies to examine resilience in organizations under significant external pressure, and achieves this by measuring three variables. 1: Organizational robustness in terms of leadership and governance. 2. Bounce-back response efficiency to external pressures and adaptation to endogenous and exogenous shock. 3. Perpetuity of operational and attack capability, and political legitimacy. The research makes three hypotheses. First, familial/kinship leadership groups have a significant effect on organizational resilience in terms of informal operations. Second, non-familial/kinship organizations suffer in terms of heightened security transaction costs and social economics surrounding recruitment, retention, and replacement. Third, resilience in non-familial organizations likely stems from critical external supports like state sponsorship or powerful patrons, rather than organic resilience dynamics. The case studies pair familial organizations with non-familial organizations. Set 1: The Haqqani Network (HQN) - Pair: Lashkar-e-Toiba (LeT). Set 2: Jemaah Islamiyah (JI) - Pair: The Abu Sayyaf Group (ASG). Case studies were selected based on three requirements, being: contrasting governance types, exposure to significant external pressures and, geographical similarity. The case study sets were examined over 24 months following periods of significantly heightened operational activities. This enabled empirical measurement of the variables as substantial external pressures came into force. The rationale for the research is obvious. Nearly all organizations have some nexus of familial interconnectedness. Examining familial leadership networks does not provide further understanding of how terrorism and insurgency originate, however, the central focus of the research does address how they persist. The sparse attention to this in existing literature presents an unexplored yet important area of security studies. Furthermore, social capital in familial systems is largely automatic and organic, given at birth or through kinship. It reduces security vetting cost for recruits, fighters and supporters which lowers liabilities and entry costs, while raising organizational efficiency and exit costs. Better understanding of these process is needed to exploit strengths into weaknesses. Outcomes and implications of the research have critical relevance to future operational policy development. Increased clarity of internal trust dynamics, social capital and power flows are essential to fracturing and manipulating kinship nexus. This is highly valuable to external pressure mechanisms such as counter-terrorism, counterinsurgency, and strategic intelligence methods to penetrate, manipulate, degrade or destroy the resilience of politically violent organizations.

Keywords: Counterinsurgency (COIN), counter-terrorism, familial influence, insurgency, intelligence, kinship, resilience, terrorism

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Authors: Yalda Zarnegarnia, Shari Messinger

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Receiver operating characteristic (ROC) curves have been widely used in medical research to illustrate the performance of the biomarker in correctly distinguishing the diseased and non-diseased groups. Correlated biomarker data arises in study designs that include subjects that contain same genetic or environmental factors. The information about correlation might help to identify family members at increased risk of disease development, and may lead to initiating treatment to slow or stop the progression to disease. Approaches appropriate to a case-control design matched by family identification, must be able to accommodate both the correlation inherent in the design in correctly estimating the biomarker’s ability to differentiate between cases and controls, as well as to handle estimation from a matched case control design. This talk will review some developed methods for ROC curve estimation in settings with correlated data from case control design and will discuss the limitations of current methods for analyzing correlated familial paired data. An alternative approach using Conditional ROC curves will be demonstrated, to provide appropriate ROC curves for correlated paired data. The proposed approach will use the information about the correlation among biomarker values, producing conditional ROC curves that evaluate the ability of a biomarker to discriminate between diseased and non-diseased subjects in a familial paired design.

Keywords: biomarker, correlation, familial paired design, ROC curve

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Authors: S. Salah, S. A. El-Masry, H. F. Sheba, R. A. El-Banna, W. Saad

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Background: Familial Mediterranean fever (FMF) has episodic or subclinical inflammation that may lead to a decrease in bone mineral density (BMD). Objective: To assess BMD in Egyptian children with FMF on genetic basis. Subjects and Methods: A cross sectional study included 45 FMF patients and 25 control children of both sexes, with age range between 3-16 years old. The patients were reclassified into 2 groups: Group I (A) 23 cases used colchicines for 1 month or less, and Group I (B) 22 cases used colchicines for more than 6 months. For both patients and control, MEFV mutations were defined using molecular genetics technique and BMD was measured by DXA at 2 sites: proximal femur and the lumber spines. Results: four frequent gene mutations were found in the patient group: E148Q (35.6%), V726A (33.3%), M680I (28.9.0%) and M694V (2.2%). There were also 4 heterozygous gene mutations in 40% of control children. Patients received colchicines treatment for less than 1 month had highly significant lower values of BMD at femur and lumber spines than control children (p<0.05). Patients received colchicines treatment for more than 6 months had improved values of BMD at femur compared to control, but there were still significant differences between them at lumbar spine (p>0.05). There are insignificant effect of type of gene mutation on BMD and the risk of osteopenia among the patients. Conclusion: FMF had significant effect on BMD. However, regular use of colchicines treatment improves this effect mainly at femur.

Keywords: familial mediterranean fever, bone mineral density, genes, children

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Authors: N. C. van der Merwe, J. Oosthuizen, M. F. Makhetha, J. Adams, B. K. Dajee, S-R. Schneider

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Women representing high-risk breast cancer families, who tested negative for pathogenic mutations in BRCA1 and BRCA2, are four times more likely to develop breast cancer compared to women in the general population. Sequencing of genes involved in genomic stability and DNA repair led to the identification of novel contributors to familial breast cancer risk. These include BLM and PALB2. Bloom's syndrome is a rare homozygous autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia and is associated with breast cancer when in a heterozygous state. PALB2, on the other hand, binds to BRCA2 and together, they partake actively in DNA damage repair. Archived DNA samples of 66 BRCA1/2 negative high-risk breast cancer patients were retrospectively selected based on the presence of an extensive family history of the disease ( > 3 affecteds per family). All coding regions and splice-site boundaries of both genes were screened using High-Resolution Melting Analysis. Samples exhibiting variation were bi-directionally automated Sanger sequenced. The clinical significance of each variant was assessed using various in silico and splice site prediction algorithms. Comprehensive screening identified a total of 11 BLM and 26 PALB2 variants. The variants detected ranged from global to rare and included three novel mutations. Three BLM and two PALB2 likely pathogenic mutations were identified that could account for the disease in these extensive breast cancer families in the absence of BRCA mutations (BLM c.11T > A, p.V4D; BLM c.2603C > T, p.P868L; BLM c.3961G > A, p.V1321I; PALB2 c.421C > T, p.Gln141Ter; PALB2 c.508A > T, p.Arg170Ter). Conclusion: The study confirmed the contribution of pathogenic mutations in BLM and PALB2 to the familial breast cancer burden in South Africa. It explained the presence of the disease in 7.5% of the BRCA1/2 negative families with an extensive family history of breast cancer. Segregation analysis will be performed to confirm the clinical impact of these mutations for each of these families. These results justify the inclusion of both these genes in a comprehensive breast and ovarian next generation sequencing cancer panel and should be screened simultaneously with BRCA1 and BRCA2 as it might explain a significant percentage of familial breast and ovarian cancer in South Africa.

Keywords: Bloom Syndrome, familial breast cancer, PALB2, South Africa

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Authors: Lida Landicho, Analiza R. Adarlo, Janine Mae V. Corpuz, Joan C. Villanueva

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Testing the idea that the process of forgiveness is intrinsically different across diverse relationships, this study examined whether forgiveness can already be facilitated by children ages 4-6. Two different intervention sessions which consists of 40 children (half heard stories about unfair blame and half heard stories about a double standard (between subjects variable) was completed. Investigators performed experimental analyses to examine the role of forgiveness in social and familial context. Results indicated that forgiveness can already be facilitated by children. Children see scenarios on double standard to be more unfair than normal scenarios (Scenario 2 (double standard) (M=7.54) Scenario 1 (unfair blame) (M=4.50), Scenario 4 (double standard) (M=7.) Scenario 3 (getting blamed for something the friend did) (M=6.80)p <.05.The findings confirmed that children were generally willing to grant forgiveness to a mother even though she was unfair, but less so to a friend. Correlations between sex, age and forgiveness were analyzed. Significant relationships was found on scenarios presented and caring task scores (rxy= -.314).Their tendency to forgive was related to dispositional and situational factors.

Keywords: forgiveness, situational and dispositional factors, familial context, social context

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Authors: Fatemeh Yazdani

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This paper explores the student intake policies in high-performing private schools in Iran by studying both sides involved in the school choice processes, parents and the school leaders. It is based on in-depth interviews with 27 parents and private schools’ staff and principals supplemented by ethnographic observation in two private schools in Tehran. From the Bourdieusian point of view, this paper argues that the school leadership engineers the composition of private schools’ students via different gatekeeping strategies, and these strategies represent and reconstruct the school’s institutional habitus. It further explores the ways that parents who look for quality education among non-state education providers deal with the school's institutional habitus based on their familial habitus and possessed economic, social, and cultural capital. The conclusion highlights that investigating school choice as a reciprocal process between family and school leadership can shed more light on the ways that an exclusive environment has been created in some high-performing private schools for certain class strata maintaining a distance that needs to be kept from ‘others.’ In a broader sense, this paper engages into an exploration of social inequality reproduction through private education.

Keywords: institutional habitus, private education, school choice, social inequality, student intake

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Authors: Ian Campbell, Gillian Mitchell, Paul James, Na Li, Ella Thompson

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The genetic cause of the majority of multiple-case breast cancer families remains unresolved. Next generation sequencing has emerged as an efficient strategy for identifying predisposing mutations in individuals with inherited cancer. We are conducting whole exome sequence analysis of germ line DNA from multiple affected relatives from breast cancer families, with the aim of identifying rare protein truncating and non-synonymous variants that are likely to include novel cancer predisposing mutations. Data from more than 200 exomes show that on average each individual carries 30-50 protein truncating mutations and 300-400 rare non-synonymous variants. Heterogeneity among our exome data strongly suggest that numerous moderate penetrance genes remain to be discovered, with each gene individually accounting for only a small fraction of families (~0.5%). This scenario marks validation of candidate breast cancer predisposing genes in large case-control studies as the rate-limiting step in resolving the missing heritability of breast cancer. The aim of this study is to screen genes that are recurrently mutated among our exome data in a larger cohort of cases and controls to assess the prevalence of inactivating mutations that may be associated with breast cancer risk. We are using the Agilent HaloPlex Target Enrichment System to screen the coding regions of 168 genes in 1,000 BRCA1/2 mutation-negative familial breast cancer cases and 1,000 cancer-naive controls. To date, our interim analysis has identified 21 genes which carry an excess of truncating mutations in multiple breast cancer families versus controls. Established breast cancer susceptibility gene PALB2 is the most frequently mutated gene (13/998 cases versus 0/1009 controls), but other interesting candidates include NPSR1, GSN, POLD2, and TOX3. These and other genes are being validated in a second cohort of 1,000 cases and controls. Our experience demonstrates that beyond PALB2, the prevalence of mutations in the remaining breast cancer predisposition genes is likely to be very low making definitive validation exceptionally challenging.

Keywords: predisposition, familial, exome sequencing, breast cancer

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Authors: Nafisa Komilova, Plamena Angelova, Andrey Abramov, Ulugbek Mirkhodjaev

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Parkinson’s disease (PD) is a progressive neurodegenerative disorder which is induced by the loss of dopaminergic neurons in the midbrain. The mechanism of neurodegeneration is associated with the aggregation of misfolded proteins, oxidative stress, and mitochondrial disfunction. Considering this, the process of removal of unwanted organelles or proteins by autophagy is vitally important in neurons, and activation of these processes could be protective in PD. Short-time acidification of cytosol can activate mitophagy and autophagy, and here we used sodium pyruvate and sodium lactate in human fibroblasts with PD mutations (Pink1, Pink1/Park2, α-syn triplication, A53T) to induce changes in intracellular pH. We have found that both lactate and pyruvate in millimolar concentrations can induce short-time acidification of cytosol in these cells. It induced activation of mitophagy and autophagy in control and PD fibroblasts and protected against cell death. Importantly, the application of lactate to acute brain slices of control and Pink1 knockout mice also induced a reduction of pH in neurons and astrocytes that increase the level of mitophagy. Thus, acidification of cytosol by compounds which play important role in cell metabolism also can activate mitophagy and autophagy and protect cells in the familial form of PD.

Keywords: Parkinson's disease, mutations, mitophagy, autophagy

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Authors: Arab M., Ait Abdallah M., Zeraoulia N., Boumaza H., Aoutia M., Griene L., Ait Abdelkader B.,

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breast and ovarian cancer are respectively the first and fourth leading causes of cancer among women in Algeria. A family story of cancer in the most important risk factor, and in most cases of families with breast and /or ovarian cancer, the pattern of cancer family can be attributed to mutation in BRCA1/2genes. objectibes: the aim of our study in to investigate the spectrum of BRCA1/2 germiline mutation in familial breast and /or ovarian cancer and to determine the prevalence and the nature of BRCA1/2mutation in Algeria methods: we deremined the prevalence of BRCA1/2 mutation within a cohort of 161 probands selected according the eisinger score double stranded sanger sequencing of all coding exons of BRCA1/2including flanking intronic region were performed results: we identified a total of 23 distinct deleterious mutations (class5) 12 differents mutations in BRCA1(52%) and 11 in BRCA2(48%). 78% (18/23) were protein truncating and 22%(5/23) missens mutations.3 novel deleterious mutations have been identified, which have not been described in public mutation database. one new mutation were found in two unrelated patients. the overall mutation detection rate in our study is 28,5%(46/161).more over, an UVS c7783 located in BRCA2 is found in two unrelated probands and segregate in the 02 families/ conclusion: our results sugget of large spectrum of BRCA1/2 mutation in Algerian breast/ovarian cancer family. The nature and prevalence of BRCA1/2mutation in algerian families are ongoing in a larger study, 80 probands are to day under investigation. This study which may therefore identify the genetic particularity of Algerian breast /ovarian cancer.

Keywords: BRCA1/2 mutations, hereditary breast cancer, algerian women, prvalence

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Authors: Selen Demirtas Zorbaz, Ozlem Ulas

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Examining the reasons of child behaviour problems has been one of the focus of psychology and related disciplines for so long. It can be said there is a lot of reasons of child behaviour problems and familial factors might be the leading ones. When taking into account the prevalence of the children having behaviour problems in Turkey, it can be said that it is important to carry out studies putting forward the reasons of behaviour problems. From this point of view, the aim of this study is to examine dissertations and thesis putting forward the relationship between problem behaviour of the children (12-year-old and younger) and teenagers (12-18 years old), and familial factors. For that purpose, 46 dissertations that were chosen according to the study criteria out of 141 dissertations scanned by using the keywords of ‘behaviour problems’ and ‘behaviour disorder’ at Higher Education Thesis Centre between the years of 1989 and 2016 have been taken into the scope of the study. ‘Thesis Examination Draft Form’ has been prepared for the purpose of being used for data collecting tool. For the analysis of the data, percentage, and frequency analysis methods have been used. When the results of these studies are evaluated on the whole, it is seen that all the dissertations and thesis done are descriptive study, and it was not encountered any studies designed as experimental. When looked at the distribution of dissertations by years, it is seen that the first thesis was done in 1989 and the most number of dissertations were done in the years of 2014 and 2016. When looked at the department in which the dissertations were done, it can be said that dissertations and thesis were done in many different fields of disciplines ranging from psychology and special education. In addition to this, when investigated the group taken into the scope of dissertations and thesis research, it is seen that the children mostly worked with are below the age of 12 and types of studies are master’s thesis. When the dissertations and thesis are examined by means of topics, it is seen that mostly-studied topics are demographic variables such as gender, whether the family is fragmented or not, education level of the family and the parents’ attitude. Obtained findings have been examined in the light of literature.

Keywords: family, child behaviour problem, dissertations, thesis

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Authors: Irina S. Kolesnikova, Alexander A. Dolskiy, Natalya A. Lemskaya, Yulia V. Maksimova, Asia R. Shorina, Alena S. Telepova, Alexander S. Graphodatsky, Dmitry V. Yudkin

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A cytogenetic and molecular genetic study of the family with a male child who had mental retardation and autistic features revealed an abnormal chromosome 13 bearing an enlarged p-arm with amplified ribosomal DNA (rDNA) in a boy and his father. Cytogenetic analysis using standard G-banding and FISH with labeled rDNA probes revealed an abnormal chromosome 13 with an enlarged p-arms due to rDNA amplification in a male child, who had clinically confirmed mental retardation and an autistic behavior. This chromosome is evidently inherited from the father, who has morphologically the same chromosome, but is healthy. The karyotype of the mother was normal. Ag-NOR staining showed brightly stained large whole-p-arm nucleolus organizer regions (NORs) in a child and normal-sized NORs in his father with 13p+-NOR-amount mosaicism. qRT-PCR with specific primers showed highly increased levels of 18S, 28S and 5,8 S ribosomal RNA (rRNA) in the patient’s blood samples compared to a normal healthy control donor. Both patient’s father and mother had no elevated levels of rRNAs expression. Thus, in this case, rRNA level seems to correlate with mental retardation in familial individuals with 13p+. Our findings of rRNA overexpression in a patient with mental retardation and his parents may show a possible link between the karyotype (p-arm enlargement due to rDNA amplification), rDNA functionality (rRNA overexpression), functional changes in the brain and mental retardation. The study is supported by Russian Science Foundation Grant 15-15-10001.

Keywords: mental retardation, ribosomal DNA–rDNA, ribosomal RNA–rRNA, nucleolus organizer region–NOR, chromosome 13

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Authors: Christelle Navarro, Sébastien Viaud, Carole Gard, Bruno Jahier

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Background: Idiopathic or familial nasal hyperkeratosis (NHK) may be considered a cosmetic issue in its uncomplicated form. Nevertheless, prevention of secondary lesions such as fissures or infections could be advised by proper management. The objective of this open-field study is to evaluate the benefits of a moisturizing balm in privately owned dogs with NHK, using an original validation grid for both investigator and owner assessments. Methods: Dogs with idiopathic or familial NHK received a vegetable-based ointment (Sensiderm® Balm, MP Labo, France) BID for 60 days. A global dermatological score (GDS) was defined using the sum of 4 criteria (“dryness,” “lichenification”, “crusts,” and “affected area”) on a 0 (no) to 3 (severe or > 2/3 extension) scale. Evaluation of this GDS (0-12) on D0, D30, and D60, by owners and investigators was the main outcome. The score’s percentage decrease versus D0, the evolution of each individual score, the correlation between observers, and the evaluation of clinical improvement and animal discomfort on VAS (0-10) during follow-up were analysed. Results: The global dermatological score significantly decreased over time (p<0.0001) for all observers. The decrease reached 44.9% and 54.3% at D30 and 54.5% and 62.3% at D60, for investigators and owners, respectively. “Dryness”, “Lichenification,” and “Affected area scores” decreased significantly and steadily over time compared to Day 0 for both investigators and owners (p < 0.001 and p = 0.001 for investigator assessment of dryness). All but one score (lichenification) were correlated at all times between observers (only at D60 for crusts). Whoever the observer, clinical improvement was always above 7. At D30 and until D60, “animal discomfort” was more than halved. Owner satisfaction was high as soon as D30 (8.1/10). No adverse effects were reported. Conclusion and clinical importance: The positive results confirm the benefits and safety of a moisturizing balm when used in dogs with uncomplicated NHK.

Keywords: hyperkeratosis, nose, dog, moisturizer

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Authors: Irene Carter, Roy Hanes, Judy MacDonald

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Considering that disability is universal and people with disabilities are part of all societies; that there is a connection between the disabled individual and the societal; and that it is society and social arrangements that disable people with impairments, contemporary disability discourse emphasizes the social model of disability to counter medical and rehabilitative models of disability. However, the social model does not go far enough in addressing the issues of oppression and inclusion. The authors indicate that the social model does not specifically or adequately denote the oppression of persons with disabilities, which is a central component of progressive social work practice with people with disabilities. The social model of disability does not go far enough in deconstructing disability and offering social workers, as well as people with disabilities a way of moving forward in terms of practice anchored in individual, familial and societal change. The social model of disability is expanded by incorporating principles of anti-oppression social work practice. Although the contextual analysis of the social model of disability is an important component there remains a need for social workers to provide service to individuals and their families, which will be illustrated through anti-oppressive practice (AOP). By applying an anti-oppressive model of practice to the above definitions, the authors not only deconstruct disability paradigms but illustrate how AOP offers a framework for social workers to engage with people with disabilities at the individual, familial and community levels of practice, promoting an emancipatory focus in working with people with disabilities. An anti- social- oppression social work model of disability connects the day-to-day hardships of people with disabilities to the direct consequence of oppression in the form of ableism. AOP theory finds many of its basic concepts within social-oppression theory and the social model of disability. It is often the case that practitioners, including social workers and psychologists, define people with disabilities’ as having or being a problem with the focus placed upon adjustment and coping. A case example will be used to illustrate how an AOP paradigm offers social work a more comprehensive and critical analysis and practice model for social work practice with and for people with disabilities than the traditional medical model, rehabilitative and social model approaches.

Keywords: anti-oppressive practice, disability, people with disabilities, social model of disability

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Authors: Noor Attar

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The paper provides an overview of the current situation of HIV/AIDS patients in the Kingdom of Saudi Arabia (KSA) and a literature review of the concepts of stigma communication, communication of social support. These concepts provide the basis for the proposed methods, which will include conducting a textual analysis of materials that are currently distributed to family members of persons living with HIV/AIDS (PLWHIV/A) in KSA and creating an educational brochure. The brochure will aim to help families of PLWHIV/A in KSA (1) understand how stigma shapes the experience of PLWHIV/A, (2) realize the role of positive communication as a helpful social support, and (3) develop the ability to provide positive social support for their loved ones.

Keywords:

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Authors: Chettou Souhaila, Soufi Omar, Roumia Mohammed Ammar

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Protecting the environment is to preserve the survival and future of humanity. Indeed, the environment is our source of food and drinking water, the air is our source of oxygen, the climate allows our survival and biodiversity are a potential drug reservoir. Preserving the environment is, therefore, a matter of survival. The objective of this project is to familiarize the general public with environmental problems not only with the theme of environmental protection, but also with the concept of biodiversity in different ecosystems. For it, the aim of our project was to create the Ecorium which is a place that preserves many species of plants of different ecosystems, schools, malls, buildings, offices, ecological transports, gardens, and many familial activities that participated in the ecosystems development, strategic biodiversity and sustainable development.

Keywords: ecological system, ecorium, environment, sustainable development

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Authors: Noor Attar

Abstract:

This paper provides an overview of the current situation of HIV/AIDS patients in the Kingdom of Saudi Arabia (KSA) and a literature review of the concepts of stigma communication, communication of social support. These concepts provide the basis for the proposed methods, which will include conducting a textual analysis of materials that are currently distributed to family members of people living with HIV/AIDS (PLWHIV/A) in KSA and creating an educational brochure. The brochure will aim to help families of PLWHIV/A in KSA (1) understand how stigma shapes the experience of PLWHIV/A, (2) realize the role of positive communication as a helpful social support, and (3) develop the ability to provide positive social support for their loved ones.

Keywords: HIV/AIDS, Saudi Arabia, social support, stigma communication

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Authors: Nouha Bouayed Abdelmoula, Rim Louati, Nawel Abdellaoui, Balkiss Abdelmoula, Oldez Kaabi, Walid Smaoui, Samir Aloulou

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Background and Aims: Cardiofaciocutaneous syndrome (CFC) is an autosomal dominant disorder with the vast majority of cases arising by a new mutation of BRAF, MEK1, MEK2, or rarely, KRAS genes. Here, we report a rare Tunisian case of CFC syndrome for whom we identify SOS1 mutation. Methods: Genomic DNA was obtained from peripheral blood collected in an EDTA tube and extracted from leukocytes using the phenol/chloroform method according to standard protocols. High resolution melting (HRM) analysis for screening of mutations in the entire coding sequence of PTPN11 was conducted first. Then, HRM assays to look for hot spot mutations coding regions of the other genes of the RAS-MAPK pathway (RAt Sarcoma viral oncogene homolog Mitogen-Activated Protein Kinases Pathway): SOS1, SHOC2, KRAS, RAF1, KRAS, NRAS, CBL, BRAF, MEK1, MEK2, HRAS, and RIT1, were applied. Results: Heterozygous SOS1 point mutation clustered in exon 10, which encodes for the PH domain of SOS1, was identified: c.1655 G > A. The patient was a 9-year-old female born from a consanguineous couple. She exhibited pulmonic valvular stenosis as congenital heart disease. She had facial features and other malformations of Noonan syndrome, including macrocephaly, hypertelorism, ptosis, downslanting palpebral fissures, sparse eyebrows, a short and broad nose with upturned tip, low-set ears, high forehead commonly associated with bitemporal narrowing and prominent supraorbital ridges, short and/or webbed neck and short stature. However, the phenotype is also suggestive of CFC syndrome with the presence of more severe ectodermal abnormalities, including curly hair, keloid scars, hyperkeratotic skin, deep plantar creases, and delayed permanent dentition with agenesis of the right maxillary first molar. Moreover, the familial history of the patient revealed recurrent brain malignancies in the paternal family and epileptic disease in the maternal family. Conclusions: This case report of an overlapping RASopathy associated with SOS1 mutation and familial history of brain tumorigenesis is exceptional. The evidence suggests that RASopathies are truly cancer-prone syndromes, but the magnitude of the cancer risk and the types of cancer partially overlap.

Keywords: cardiofaciocutaneous syndrome, CFC, SOS1, brain cancer, germline mutation

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Authors: Paula I. Buonfiglio, Carlos David Bruque, Lucia Salatino, Vanesa Lotersztein, Sebastián Menazzi, Paola Plazas, Ana Belén Elgoyhen, Viviana Dalamón

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Hearing loss (HL) is the most prevalent sensorineural disorder affecting about 10% of the global population, with more than half due to genetic causes. About 1 in 500-1000 newborns present congenital HL. Most of the patients are non-syndromic with an autosomal recessive mode of inheritance. To date, more than 100 genes are related to HL. Therefore, the Whole-exome sequencing (WES) technique has become a cost-effective alternative approach for molecular diagnosis. Nevertheless, new challenges arise from the detection of novel variants, in particular missense changes, which can lead to a spectrum of genotype-to-phenotype correlations, which is not always straightforward. In this work, we aimed to identify the genetic causes of HL in isolated and familial cases by designing a multistep approach to analyze target genes related to hearing impairment. Moreover, we performed in silico and in vivo analyses in order to further study the effect of some of the novel variants identified in the hair cell function using the zebrafish model. A total of 650 patients were studied by Sanger Sequencing and Gap-PCR in GJB2 and GJB6 genes, respectively, diagnosing 15.5% of sporadic cases and 36% of familial ones. Overall, 50 different sequence variants were detected. Fifty of the undiagnosed patients with moderate HL were tested for deletions in STRC gene by Multiplex ligation-dependent probe amplification technique (MLPA), leading to 6% of diagnosis. After this initial screening, 50 families were selected to be analyzed by WES, achieving diagnosis in 44% of them. Half of the identified variants were novel. A missense variant in MYO6 gene detected in a family with postlingual HL was selected to be further analyzed. A protein modeling with AlphaFold2 software was performed, proving its pathogenic effect. In order to functionally validate this novel variant, a knockdown phenotype rescue assay in zebrafish was carried out. Injection of wild-type MYO6 mRNA in embryos rescued the phenotype, whereas using the mutant MYO6 mRNA (carrying c.2782C>A variant) had no effect. These results strongly suggest the deleterious effect of this variant on the mobility of stereocilia in zebrafish neuromasts, and hence on the auditory system. In the present work, we demonstrated that our algorithm is suitable for the sequential multigenic approach to HL in our cohort. These results highlight the importance of a combined strategy in order to identify candidate variants as well as the in silico and in vivo studies to analyze and prove their pathogenicity and accomplish a better understanding of the mechanisms underlying the physiopathology of the hearing impairment.

Keywords: diagnosis, genetics, hearing loss, in silico analysis, in vivo analysis, WES, zebrafish

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Authors: Nicola Harrison

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Familial childhood sexual abuse (FCSA) prevalence rates in Aotearoa, New Zealand, are amongst the highest globally, particularly in indigenous communities. However, such statistics seem incongruent with indigenous paradigms of unity, care, and connection. The inability of policymakers and mainstream service providers to acknowledge the direct links between the social contexts created by colonisation for indigenous families in Aotearoa and intergenerational FCSA has meant there has been little meaningful success in combatting this significant social problem. This research traces the conditions of intergenerational FCSA to the systemic inequalities created by colonization. Kaupapa Māori methodologies were applied to this qualitative piece of empirical research wherein 17 indigenous contributors shared their stories of FCSA. From these stories and existing literature, we can identify how the machinations of colonisation are mirrored by techniques used to perpetrate abuse. Once identified, we are then able to recommend actions for halting FCSA for future generations.

Keywords: indigenity, family violence, childhood sexual abuse, colonization

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Authors: Lucille Lok-Sun Ngan

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There are significant gaps in both the migration and family literatures regarding the gendered parenting of Chinese migrants. Evidence from the literature informs us that the child-focused parenting style of the West has altered, with positive consequences, parent–child relationships in migrant families. In particular, second-generation migrants have developed hybrid identities distinct from those of their overseas-born parents and the locals. On returning to their place of origin, they may undergo yet another process of change in values, and in behaviour, in order to adapt to the local culture. As migration changes values, personality and practice at personal, interpersonal and familial levels, the cross-cultural experiences of returnees inevitably affect their own fatherhood journeys in their country of origin. This paper reviews current literature on fatherhood and migration and identifies the gaps and limitations that pertain to understanding the paternal experiences of Chinese return migrants.

Keywords: Chinese returnees, cross-cultural experiences, fatherhood, hybridity, migration

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Authors: Vanessa Do, Lauren Smith, Leslie Carver

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It is widely known that individuals with autism spectrum disorder (ASD) may exhibit sensitivity to stimuli. Even at a young age, they tend to display stimuli-related discomfort in their behavior during play. Play serves a crucial role in a child’s early years as it helps support healthy brain development, socio-emotional skills, and adaptation to their environment There is research dedicated to studying infant preferences for toys, especially in regard to: gender preferences, the advantages of promoting play, and the caregiver’s role in their child’s play routines. However, there is a disproportionate amount of literature examining how play patterns may differ in children with sensory sensitivity, such as children diagnosed with ASD. Prior literature has studied and found supporting evidence that individuals with ASD have deficits in social communication and have increased presence of repetitive behaviors and/or restricted interests, which also display in early childhood play patterns. This study aims to examine potential differences in toy preference between infants with (FH+) and without (FH-) a familial history of ASD ages 6. 9, and 12 months old. More specifically, this study will address the question, “do FH+ infants tend to play more with toys that require less social engagement compared to FH- infants?” Infants and their caregivers were recruited and asked to engage in a free-play session in their homes that lasted approximately 5 minutes. The sessions were recorded and later coded offline for engagement behaviors categorized by toy; each toy that the infants interacted with was coded as belonging to one of 6 categories: sensory (designed to stimulate one or more senses such as light-up toys or musical toys) , construction (e.g., building blocks, rubber suction cups), vehicles (e.g., toy cars), instructional (require steps to accomplish a goal such as flip phones or books), imaginative (e.g., dolls, stuffed animals), and miscellaneous (toys that do not fit into these categories). Toy engagement was defined as the infant looking and touching the toy (ILT) or looking at the toy while their caregiver was holding it (IL-CT). Results reported include/will include the proportion of time the infant was actively engaged with the toy out of the total usable video time per subject — distractions observed during the session were excluded from analysis. Data collection is still ongoing; however, the prediction is that FH+ infants will have higher engagement with sensory and construction toys as they require the least amount of social effort. Furthermore, FH+ infants will have the least engagement with the imaginative toys as prior literature has supported the claim that individuals with ASD have a decreased likelihood to engage in play that requires pretend play and other social skills. Looking at what toys are more or less engaging to FH+ infants is important as it provides significant contributions to their healthy cognitive, social, and emotional development. As play is one of the first ways for a child to understand the complexities of the larger world, the findings of this study may help guide further research into encouraging play with toys that are more engaging and sensory-sensitive for children with ASD.

Keywords: autism engagement, children’s play, early development, free-play, infants, toy

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Authors: Joanna Marie A. Paulino-Morente, Vaneza Valentina L. Penolio, Grace Sabado

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Ovarian cancer is extremely hard to diagnose in its early stages, and those afflicted at the time of diagnosis are typically asymptomatic and in the late stages of the disease, with metastasis to other organs. Ovarian cancers often occur sporadically, with only 5% associated with hereditary mutations. Mutations in the BRCA1 and BRCA2 tumor suppressor genes have been found to be responsible for the majority of hereditary ovarian cancers. One type of ovarian tumor is Malignant Mixed Mullerian Tumor (MMMT), which is a very rare and aggressive type, accounting for only 1% of all ovarian cancers. Reported is a case of a 43-year-old G3P3 (3003), who came into our institution due to a 2-month history of difficulty of breathing. Family history reveals that her eldest and younger sisters both died of ovarian malignancy, with her younger sister having a histopathology report of endometrioid ovarian carcinoma, left ovary stage IIIb. She still has 2 asymptomatic sisters. Physical examination pointed to pleural effusion of right lung, and presence of bilateral ovarian new growth, which had a Sassone score of 13. Admitting Diagnosis was G3P3 (3003), Ovarian New Growth, bilateral, Malignant; Pleural effusion secondary to malignancy. BRCA was requested to establish a hereditary mutation; however, the patient had no funds. Once the patient was stabilized, TAHBSO with surgical staging was performed. Intraoperatively, the pelvic cavity was occupied by firm, irregularly shaped ovaries, with a colorectal metastasis. Microscopic sections from both ovaries and the colorectal metastasis had pleomorphic tumor cells lined by cuboidal to columnar epithelium exhibiting glandular complexity, displaying nuclear atypia and increased nuclear-cytoplasmic ratio, which are infiltrating the stroma, consistent with the features of Malignant Mixed Mullerian Tumor, since MMMT is composed histologically of malignant epithelial and sarcomatous elements. In conclusion, discussed is the clinic-pathological feature of a patient with primary ovarian Malignant Mixed Mullerian Tumor, a rare malignancy comprising only 1% of all ovarian neoplasms. Also, by understanding the hereditary ovarian cancer syndromes and its relation to this patient, it cannot be overemphasized that a comprehensive family history is really fundamental for early diagnosis. The familial association of the disease, given that the patient has two sisters who were diagnosed with an advanced stage of ovarian cancer and succumbed to the disease at a much earlier age than what is reported in the general population, points to a possible hereditary syndrome which occurs in only 5% of ovarian neoplasms. In a low-resource setting, being in a third world country, the following will be recommended for monitoring and/or screening women who are at high risk for developing ovarian cancer, such as the remaining sisters of the patient: 1) Physical examination focusing on the breast, abdomen, and rectal area every 6 months. 2) Transvaginal sonography every 6 months. 3) Mammography annually. 4) CA125 for postmenopausal women. 5) Genetic testing for BRCA1 and BRCA2 will be reserved for those who are financially capable.

Keywords: BRCA, hereditary breast-ovarian cancer syndrome, malignant mixed mullerian tumor, ovarian cancer

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Authors: Shan Jiang

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Child aggression represents a significant global issue, with its familial determinants being crucial. Family is a vital context for child development, but prior research on the impact of parental assortative mating on child aggression is limited. This study investigates the effects of assortative mating on child aggression, elucidating the mediating mechanisms involved and examining gender-specific responses, within a substantial sample of 10,570 parents and their children, grades 1-6, in Hangzhou City, Zhejiang Province, China. The findings indicate that children exhibit a significant increase in aggressive behaviors when maternal income surpasses paternal income, contrasted with families where the father's income is higher. The study identifies family communication, co-parenting quality, and parental problem-solving strategies as significant mediators in the relationship between parental income/education differences and child aggression. This research contributes to understanding the parental influence on child behavior within the family system and offers valuable implications for child protection policy and intervention strategies.

Keywords: assortative mating, aggression, children, family

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Authors: Jaco Oosthuizen, Nerina C. Van Der Merwe

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The National Health Laboratory Services in Bloemfontien has been the diagnostic testing facility for 1830 patients for familial breast cancer since 1997. From the cohort, 540 were comprehensively screened using High-Resolution Melting Analysis or Next Generation Sequencing for the presence of point mutations and/or indels. Approximately 90% of these patients stil remain undiagnosed as they are BRCA1/2 negative. Multiplex ligation-dependent probe amplification was initially added to screen for copy number variation detection, but with the introduction of next generation sequencing in 2017, was substituted and is currently used as a confirmation assay. The aim was to investigate the viability of utilizing internationally designed copy number variation detection assays based on mostly European/Caucasian genomic data for use within a South African context. The multiplex ligation-dependent probe amplification technique is based on the hybridization and subsequent ligation of multiple probes to a targeted exon. The ligated probes are amplified using conventional polymerase chain reaction, followed by fragment analysis by means of capillary electrophoresis. The experimental design of the assay was performed according to the guidelines of MRC-Holland. For BRCA1 (P002-D1) and BRCA2 (P045-B3), both multiplex assays were validated, and results were confirmed using a secondary probe set for each gene. The next generation sequencing technique is based on target amplification via multiplex polymerase chain reaction, where after the amplicons are sequenced parallel on a semiconductor chip. Amplified read counts are visualized as relative copy numbers to determine the median of the absolute values of all pairwise differences. Various experimental parameters such as DNA quality, quantity, and signal intensity or read depth were verified using positive and negative patients previously tested internationally. DNA quality and quantity proved to be the critical factors during the verification of both assays. The quantity influenced the relative copy number frequency directly whereas the quality of the DNA and its salt concentration influenced denaturation consistency in both assays. Multiplex ligation-dependent probe amplification produced false positives due to ligation failure when ligation was inhibited due to a variant present within the ligation site. Next generation sequencing produced false positives due to read dropout when primer sequences did not meet optimal multiplex binding kinetics due to population variants in the primer binding site. The analytical sensitivity and specificity for the South African population have been proven. Verification resulted in repeatable reactions with regards to the detection of relative copy number differences. Both multiplex ligation-dependent probe amplification and next generation sequencing multiplex panels need to be optimized to accommodate South African polymorphisms present within the genetically diverse ethnic groups to reduce the false copy number variation positive rate and increase performance efficiency.

Keywords: familial breast cancer, multiplex ligation-dependent probe amplification, next generation sequencing, South Africa

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Authors: Eman Tadros, Natasha Finney

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The following case study involving a high-conflict, Children’s Services Bureau (CSB) referred couple is analyzed and reviewed through an integrated lens of structural family therapy and dialectical behavior therapy. In structural family therapy, normal family development is not characterized by a lack of problems, but instead by families’ having developed a functional structure for dealing with their problems. Whereas, in dialectical behavioral therapy normal family development can be characterized by having a supportive and validating environment, where all family members feel a sense of acceptance and validation for who they are and where they are in life. The clinical case conceptualization highlights the importance of conceptualizing how change occurs within a therapeutic setting. In the current case study, the couple did not only experience high-conflict, but there were also issues of substance use, health issues, and other complicating factors. Clinicians should view their clients holistically and tailor their treatment to fit their unique needs. In this framework, change occurs within the family unit, by accepting each member as they are, while at the same time working together to change maladaptive familial structures.

Keywords: couples, dialectical behavior therapy, high-conflict, structural family therapy

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

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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

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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

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