Search results for: familial mediterranean fever

Authors: P. Tsarouhas, Ch. Achillas, D. Aidonis, D. Folinas, V. Maslis, N. Moussiopoulos

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Agricultural production is a sector with high socioeconomic significance and key implications on employment and nutritional security. However, the impacts of agrifood production and consumption patterns on the environment are considerable, mainly due to the demand of large inputs of resources. This paper presents a case study of olive oil production in Greece, an important agri-product especially for countries in the Mediterranean basin. Life Cycle Analysis has been used to quantify the environmental performance of olive oil production. All key parameters that are associated with the life cycle of olive oil production are studied and environmental “hotspots” are diagnosed.

Keywords: LCA, olive oil production, environmental impact, case study, Greece

Procedia PDF Downloads 433

Authors: Hacer Kobya Bulut, Ilknur Kahriman, Birsel C. Demirbag

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Introduction and Purpose: The lives of children with cancer are affected by long term hospitalizations in a negative way due to complications arising from diagnosis or treatment. However, the children's parents are known to have difficulties in meeting their children’s needs and providing home care after cancer treatment or during remission process. Supporting these children and their parents by giving a planned discharge training starting from the hospital and home care leads to reducing hospital applications, hospitalizations, hospital costs, shortening the length of hospital stay and increasing the satisfaction of the children with cancer and their families. This study was conducted to investigate the status of children and their parents' unplanned application to hospital and re-hospitalization. Methods: The study was carried out with 65 children with hematological malignancy in 0-17 age group and their families in a hematology clinic and polyclinic of a university hospital in Trabzon. Data were collected with survey methodology between August-November, 2015 through face to face interview using numbers, percentage and chi-square test in the evaluation. Findings: Most of the children were leukemia (90.8%) and 49.2% had been ill over 13 months. Few of the parents (32.3%) stated that they had received discharge and home care training (24.6%) but most of them (69.2%) found themselves enough in providing home care. Very few parents (6.2%) received home care training after their children being discharged and the majority of parents (61.5%) faced difficulties in home care and had no one to call around them. The parents expressed that in providing care to their children with hematological malignance, they faced difficulty in feeding them (74.6%), explaining their disease (50.0%), giving their oral medication (47.5%), providing hygiene (43.5%) and providing oral care (39.3%). The question ‘What are the emergency situations in which you have to bring your children to a doctor immediately?' was replied as fever (89.2%), severe nausea and vomiting (87.7%), hemorrhage (86.2%) and pain (81.5%). The study showed that 50.8% of the children had unplanned applications to hospitals and 33.8% of them identified as unplanned hospitalization and the first causes of this were fever and pain. The study showed that the frequency of applications (%78.8) and hospitalizations (%81.8) was higher for boys and a statistically significant difference was found between gender and unplanned applications (X=4.779; p=0.02). Applications (48.5%) and hospitalizations (40.9%) were found lower for the parents who had received hospital discharge training, and a significant difference was determined between receiving training and unplanned hospitalizations (X=8.021; p=0.00). Similarly, applications (30.3%) and hospitalizations (40.9%) was found lower for the ones who had received home care training, and a significant difference was determined between receiving home care training and unplanned hospitalizations (X=4.758; p=0.02). Conclusion: It was found out that caregivers of children with cancer did not receive training related to home care and complications about treatment after discharging from hospital, so they faced difficulties in providing home care and this led to an increase in unplanned hospital applications and hospitalizations.

Keywords: cancer, children, unplanned application, unplanned hospitalization

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Authors: Ayşen Melda Çolak, Volkan Okatan, Ercan Yıldız

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In our country, fruit production was determined as 17.2 million tons in 2011 according to official data. Turkey fig, apricot, cherry and quince production ranks first in the world. Almost all the regions of our country, despite the growing of fruit 54% of the total fruit production occur in the Mediterranean and the Aegean Region. However, fruit production in the country is consumed in the domestic market and export rates are often very low. In this study, a questionnaire to 100 farmers face-to-face interview. According to the survey, 40% of those in fruit and 7 da of 7 hectares land are small. 30% of soil testing for manufacturers, testing for 20% of the water. Manufacturers who deliberately fertilization rate of only 10%.

Keywords: fruit, generation, potential, Sivasli survey

Procedia PDF Downloads 261

Authors: Abdelkader Soumaya, Noureddine Ben Ayed, Mojtaba Rajabi, Mustapha Meghraoui, Damien Delvaux, Ali Kadri, Moritz Ziegler, Said Maouche, Ahmed Braham, Aymen Arfaoui

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The northern Maghreb region (Western Mediterranean) is a key area to study the seismotectonic deformations across the Africa-Eurasia convergent plate boundary. On the basis of young geologic fault slip data and stress inversion of focal mechanisms, we defined a first-order transpression-compatible stress field and a second-order spatial variation of tectonic regime across the Maghreb region, with a relatively stable SHmax orientation from east to west. Therefore, the present-day active contraction of the western Africa-Eurasia plate boundary is accommodated by (1) E-W strike-slip faulting with a reverse component along the Eastern Tell and Saharan-Tunisian Atlas, (2) a predominantly NE trending thrust faulting with strike-slip component in the Western Tell part, and (3) a conjugate strike-slip faulting regime with a normal component in the Alboran/Rif domain. This spatial variation of the active stress field and the tectonic regime is relatively in agreement with the inferred stress information from neotectonic features. According to newly suggested structural models, we highlight the role of main geometrically complex shear zones in the present-day stress pattern of the Maghreb region. Then, different geometries of these major preexisting strike-slip faults and related fractures (V-shaped conjugate fractures, horsetail splays faults, and Riedel fractures) impose their component on the second- and third-order stress regimes. Smoothed present-day and Neotectonic stress maps (mean SHmax orientation) reveal that plate boundary forces acting on the Africa-Eurasia collisional plates control the long wavelength of the stress field pattern in the Maghreb. The seismotectonic deformations and the upper crustal stress field in the study area are governed by the interplay of the oblique plate convergence (i.e., Africa-Eurasia), lithosphere-mantle interaction, and preexisting tectonic weakness zones.

Keywords: Maghreb, strike-slip fault, seismotectonic, focal mechanism, inversion

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Authors: Magdalena Barbara Kaziuk

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Introduction: In December 2019, the first case of an acute infectious disease of the respiratory system caused by the SARS-CoV-2 virus was recorded in Wuhan in Central China. On March 11, 2020, the World Health Organization restrictions, among others, in the travel industry. Aim: The aim of the study was the assessment of the preparedness of European cultural institutions and catering establishments within the sanitary and epidemiological dimension during the COVID-19 pandemic by Polish tourists and their sense of safety in selected destinations. Material and methods: The study involved 300 Polish tourists (125 females, 175 males, age 46.5+/-12.9 years) who traveled during the COVID-19 pandemic to Southern European countries. 5 most popular travel destinations were selected: Italy, Austria, Greece, Croatia, and Mediterranean islands. The tourists assessed cultural institutions and catering establishments with the use of a proprietary questionnaire which concerned the preparedness regarding the sanitary and epidemiological requirements and the tourists' sense of safety. The number of respondents was deliberate - 60 persons per each country. Results: The more stringent sanitary regimes, the higher the sense of safety in the study group of females aged 45-50 (p<0.005), while the more stringent sanitary and epidemiological issues are implemented, the shorter the stay (p<0.001). Less stringent restrictions resulted in increased sense of freedom and mental rest in the group of studied males (p<0.005). Conclusions: The respondents' opinions revealed that the highest level of safety with regard to sanitary and epidemiological requirements (masks covering mouth and nose worn by both personnel and society, the necessity to present the COVID passport, the possibility to disinfect hands) was observed in Austria and Italy, while shorter length of the stay in these countries resulted from high prices, particularly in catering establishments. According to the respondents, less stringent restrictions, among others lack of the necessity to own the COVID passport, were linked to Croatia and Mediterranean islands. The sense of safety was satisfying, while the sense of freedom and mental rest was high. declared a string of COVID-19 cases a pandemic. Most countries implemented numerous sanitary and epidemiological

Keywords: sanitary and epidemiological regimes, tourist facilities, COVID-19 pandemic, sense of safety

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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: Esra Ipekci, Murad Aydin Sanda

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The flora of Bozdağ (Konya) and its surroundings were investigated between 2003 and 2005 years; 700 herbarium specimens belonging to 482 taxa, 257 genera and 62 families were collected and identified from the area. The families which have the most taxa in research area are Asteraceae 67 (14.0%), Fabaceae 60 (12.6%), Lamiaceae 57 (11.9%), Brassicaceae 34 (7.1%), Poaceae 30 (6.3%), Rosaceae 24 (5.0%), Caryophyllaceae 23 (4.8%), Liliaceae 19 (4.0%), Boraginaceae 17 (3.6%), Apiaceae 13 (2.7%). The research area is in the district of Konya and is in the B4 square according to the Grid System. The phytogeographic elements are represented in the study area as follows; Mediterranean 72 (14.9%), Irano-Turanian 91 (18.9%), Euro-Siberian 21 (4.3%). The phytogeographic regions of 273 (56.6%) taxa are either multi regional or unknown. The number of endemic taxa is 79 (16.3%).

Keywords: Sizma, Bozdağ, Flora, Konya, Turkey

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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: Pedro Batista, André Vinha, Filipe Castelo, Bárbara Costa, Ricardo Sousa, Raquel Ricardo, André Pinto

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Background: Septic arthritis is a diagnosis that must be considered in any patient presenting with acute joint swelling and fever. Among the several risk factors for septic arthritis, such as age, rheumatoid arthritis, recent surgery, or skin infection, diabetes mellitus can sometimes be the main risk factor. Staphylococcus aureus is the most common pathogen isolated in septic arthritis; however, it is uncommon in monomicrobial necrotizing fasciitis. Objectives: A case report of concomitant septic arthritis and necrotizing fasciitis in a patient with undiagnosed diabetes based on clinical history. Study Design & Methods: We report a case of a 58-year-old Portuguese previously healthy man who presented to the emergency department with fever and left knee swelling and pain for two days. The blood work revealed ketonemia of 6.7 mmol/L and glycemia of 496 mg/dL. The vital signs were significant for a temperature of 38.5 ºC and 123 bpm of heart rate. The left knee had edema and inflammatory signs. Computed tomography of the left knee showed diffuse edema of the subcutaneous cellular tissue and soft tissue air bubbles. A diagnosis of septic arthritis and necrotising fasciitis was made. He was taken to the operating room for surgical debridement. The samples collected intraoperatively were sent for microbiological analysis, revealing infection by multi-sensitive Staphylococcus aureus. Given this result, the empiric flucloxacillin (500 mg IV) and clindamycin (1000 mg IV) were maintained for 3 weeks. On the seventh day of hospitalization, there was a significant improvement in subcutaneous and musculoskeletal tissues. After two weeks of hospitalization, there was no purulent content and partial closure of the wounds was possible. After 3 weeks, he was switched to oral antibiotics (flucloxacillin 500 mg). A week later, a urinary infection by Pseudomonas aeruginosa was diagnosed and ciprofloxacin 500 mg was administered for 7 days without complications. After 30 days of hospital admission, the patient was discharged home and recovered. Results: The final diagnosis of concomitant septic arthritis and necrotizing fasciitis was made based on the imaging findings, surgical exploration and microbiological tests results. Conclusions: Early antibiotic administration and surgical debridement are key in the management of septic arthritis and necrotizing fasciitis. Furthermore, risk factors control (euglycemic blood glucose levels) must always be taken into account given the crucial role in the patient's recovery.

Keywords: septic arthritis, Necrotizing fasciitis, diabetes, Staphylococcus Aureus

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Authors: Arash Imani Fooladi

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In recent years, with the growing population and decrease in the amount of non-renewable energy supplies, which is caused by the uncontrolled energy use, the world witnesses air pollution and destruction of the natural resources. Most of the buildings which are constructed in order to inhabit this great amount of population have minimum facilities. With the passing time researchers began to feel anxious about increase in the amount of energy which people are continuously using and they tried to find some ways to solve it. One of the methods, which human being has used all during the history, was considering the orientation, size, form and shape of the building during design process and trying to take advantage of the methods which his ancestors used in order to make buildings thermally comfortable. In the last forty years with the development of building materials a new way of conserving energy, called insulation, was invented. In North Cyprus, with its adverse weather condition (hot and dry summers and rainy winters) no method was used to make buildings thermally comfortable. This fact leads to wasting a noticeable amount of energy for heating and cooling the buildings. The main aim of this article is to evaluate the defects of insulation in North Cyprus and to introduce some suggestions to improve the current defects of insulation. Therefore, this paper focuses on the Toros dormitory and the construction firms in TRNC. Toros Dormitory is situated in North Cyprus and it is one of the dormitories of Eastern Mediterranean University. Lots of problems are observed with its insulation. Forty students who inhabit in this dormitory are selected randomly in order to study these defects. Close ended questionnaires are used to find out the level of satisfaction of these students on the subject. Furthermore, eight constructors in North Cyprus are selected to study their level of satisfaction, the most important factors for choosing an insulation type and the material they often use as insulation. The results demonstrated that most of the students in the dormitory are not satisfied with the thermal conditions. Constructors are also unsatisfied with the insulating conditions in TRNC. They claimed that polystyrene which is commonly used is not the proper material for insulation in this area. Finally ICF system is evaluated, it is a new system of construction which also works as an insulation and recently it is being used all over the world. The material is suggested as a proper insulation type for North Cyprus.

Keywords: thermal comfort, insulation, building envelop, hot and humid climate, ICF system

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Authors: Allagui Mohamed

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The study of the concentrations of atmospheric pollutants is analyzed during two days of sea breeze (April 26, 2010, and January 11, 2008) on the Mediterranean coasts, just in front of Gabès (33 ° 53 'N, 10 ° 07' E), Tunisia. During these two cases, we found that Gabès was contaminated by a coastal sea breeze. On April 26, 2010, the terrestrial synoptic wind admitted a maximum speed of about 6 m / s and was approximately perpendicular to the coast and making the breeze easier. On January 11, 2008, the terrestrial wind was local. Under these conditions, O3 and, therefore, the concentrations were multiplied by the factors 0.1 and 2, respectively. The episodes of ozone concentrations faithfully follow the sea breeze circulation. These sea breeze events can be responsible for high concentrations of NO, NO2, and SO2 as air pollutants in this area.

Keywords: sea breeze, O3, cost town, air quality

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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: A. Lubis, S. S. Pasulu, Z. Hikmah, A. Endaryanto, A. Harsono

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Infection by group A streptococci (GAS) can trigger an autoantibody that cause a poststreptococcal reactive arthritis (PSRA). Four patients with PSRA aged 10 years to 14 years old with the main complaint of joint pain for five days to 10 days after suffering a fever and sore throat. The joint pain was persistent, additive, and non migratory. All patients revealed an increase in erythrocyte sedimentation rate (ESR) and anti-streptolysin O (ASLO), but the chest x-ray, electrocardiography, and echocardiography were normal. Bone imaging showed no destruction on the affected joint. Jones Criteria were not fulfilled in all patients. Erythromycin and ibuprofen were given in all patients and an improvement was shown. Erythromycin was continued for one year and routine controls were conducted for cardiac evaluation. The prognosis of all the patients was good.

Keywords: arthritis, group a streptococcus, autoantibody, Jones criteria

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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: Gianmaria Califano, Júlio Augusto Lucena Maciel, Olfa Zarrouk, Miguel Damasio, Jose Silvestre, Ana Margarida Fortes

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Global warming, with rapid and sudden changes in meteorological conditions, is one of the major constraints to ensuring agricultural and crop resilience in the Mediterranean regions. Several strategies are being adopted to reduce the pressure of drought stress on grapevines at regional and local scales: improvements in the irrigation systems, adoption of interline cover crops, and adaptation of pruning techniques. However, still, more can be achieved if also microbial compartments associated with plants are considered in crop management. It is known that the microbial community change according to several factors such as latitude, plant variety, age, rootstock, soil composition and agricultural management system. Considering the increasing pressure of the biotic and abiotic stresses, it is of utmost necessity to also evaluate the effects of drought on the microbiome associated with the grapevine, which is a commercially important crop worldwide. In this study, we characterize the diversity and the structure of the microbial community under three long-term irrigation levels (100% ETc, 50% ETc and rain-fed) in a drought-tolerant grapevine cultivar present worldwide, Syrah. To avoid the limitations of culture-dependent methods, amplicon sequencing with target primers for bacteria and fungi was applied to the same soil samples. The use of the DNeasy PowerSoil (Qiagen) extraction kit required further optimization with the use of lytic enzymes and heating steps to improve DNA yield and quality systematically across biological treatments. Target regions (16S rRNA and ITS genes) of our samples are being sequenced with Illumina technology. With bioinformatic pipelines, it will be possible to obtain a characterization of the bacterial and fungal diversity, structure and composition. Further, the microbial communities will be assessed for their functional activity, which remains an important metric considering the strong inter-kingdom interactions existing between plants and their associated microbiome. The results of this study will lay the basis for biotechnological applications: in combination with the establishment of a bacterial library, it will be possible to explore the possibility of testing synthetic microbial communities to support plant resistance to water scarcity.

Keywords: microbiome, metabarcoding, soil, vinegrape, syrah, global warming, crop sustainability

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Authors: H. Kadi-Hanifi, F. Amghar

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Steppes of arid Mediterranean zones are deeply threatened by desertification. To stop or alleviate ecological and economic problems associated with this desertification, management actions have been implemented since the last three decades. The struggle against desertification has become a national priority in many countries. In Algeria, several management techniques have been used to cope with desertification. This study aims at investigating the effect of exclosure on floristic diversity and chemical soil proprieties after four years of implementation. 167 phyto-ecological samples have been studied, 122 inside the exclosure and 45 outside. Results showed that plant diversity, composition, vegetation cover, pastoral value and soil fertility were significantly higher in protected areas.

Keywords: Algeria, arid, desertification, pastoral management, soil fertility

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Authors: Elena Even-Simkin

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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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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

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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

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Authors: Raif Parlakkaya, Huseyin Cetin, Halil Akmese, Mesut Murat Adabali

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As the economies of other countries in the Mediterranean Basin, the tourism sector in our country has a high denominator in economics. Tourism businesses, which are building blocks of tourism, sector faces with a variety of problems during their activities. These problems faced make business efficiency and competition conditions of the businesses difficult. Most of the problems faced by the tourism businesses and the information of consumers about consumers’ rights were used in this study, which is conducted to determine the problems of tourism businesses in the Central Anatolia Region. It is aimed to contribute the awareness of staff and executives working at tourism sector and to attract attention of businesses active concurrently with tourism sector and legislators.

Keywords: financial problems, the problems of tourism businesses, tourism businesses, tourism sector in Turkey

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Authors: Ghoul Rachid Brahim

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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

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Authors: Noah Erskine, Jaime Barratt, John Cairney

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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

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Authors: Sze Wai Veera Fung, Peter W. Ferretto

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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

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Authors: Siddhant Yadav, Rylea Ranum, Hannah Alberts, Abdul Kalaiger, Brent Bauer, Ryan Hurt, Ann Vincent, Loren Toussaint, Sanjeev Nanda

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Background and significance: Fibromyalgia (FM) is a chronic pain disorder also characterized by chronic fatigue, morning stiffness, sleep, and cognitive symptoms, psychological disturbances (anxiety, depression), and is comorbid with multiple medical and psychiatric conditions. It has an incidence of 2-4% in the general population and is reported more commonly in women. Oxidative stress and inflammation are thought to contribute to pain in patients with FM, and the adoption of an antioxidant/anti-inflammatory diet has been suggested as a modality to alleviate symptoms. The aim of this systematic review was to evaluate the efficacy of specialized diets (ketogenic, gluten free, Mediterranean, and low carbohydrate) in improving FM symptoms. Methodology: A comprehensive search of the following databases from inception to July 15th, 2021, was conducted: Ovid MEDLINE and Epub ahead of print, in-process and other non-indexed citations and daily, Ovid Embase, Ovid EBM reviews, Cochrane central register of controlled trials, EBSCO host CINAHL with full text, Elsevier Scopus, website and citation index, web of science emerging sources citation and clinicaltrials.gov. We included randomized controlled trials, non-randomized experimental studies, cross-sectional studies, cohort studies, case series, and case reports in adults with fibromyalgia. The risk of bias was assessed with the Agency for Health Care Research and Quality designed, specific recommended criteria (AHRQ). Results: Thirteen studies were eligible for inclusion. This included a total of 761 participants. Twelve out of the 13 studies reported improvement in widespread body pain, joint stiffness, sleeping pattern, mood, and gastrointestinal symptoms, and one study reported no changes in symptomatology in patients with FM on specialized diets. None of the studies showed the worsening of symptoms associated with a specific diet. Most of the patient population was female, with the mean age at which fibromyalgia was diagnosed being 48.12 years. Improvement in symptoms was reported by the patient's adhering to a gluten-free diet, raw vegan diet, tryptophan- and magnesium-enriched Mediterranean diet, aspartame- and msg- elimination diet, and specifically a Khorasan wheat diet. Risk of bias assessment noted that 6 studies had a low risk of bias (5 clinical trials and 1 case series), four studies had a moderate risk of bias, and 3 had a high risk of bias. In many of the studies, the allocation of treatment (diets) was not adequately concealed, and the researchers did not rule out any potential impact from a concurrent intervention or an unintended exposure that might have biased the results. On the other hand, there was a low risk of attrition bias in all the trials; all were conducted with an intention-to-treat, and the inclusion/exclusion criteria, exposures/interventions, and primary outcomes were valid, reliable, and implemented consistently across all study participants. Concluding statement: Patients with fibromyalgia who followed specialized diets experienced a variable degree of improvement in their widespread body pain. Improvement was also seen in stiffness, fatigue, moods, sleeping patterns, and gastrointestinal symptoms. Additionally, the majority of the patients also reported improvement in overall quality of life.

Keywords: fibromyalgia, specialized diet, vegan, gluten free, Mediterranean, systematic review

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Authors: Marcus Smith

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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

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Authors: Murad Aydin Şanda, Mustafa Küçüködük

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The flora and it’s plants ethnobotanical features of Oyukludag were investigated between 2003 and 2006 years; 780 herbarium specimens belonging to 448 taxa, 292 genera and 62 families were collected and identified from the area. The families which have the most taxa in research area are Compositae (Asteraceae) 78 (17%), Leguminosae (Fabaceae) 58 (13%), Cruciferae (Brassicaceae) 34 (8%), Labiatae (Lamiaceae) 33 (7%), Gramineae (Poaceae) 29 (6%), Caryophyllaceae 19 (4%), Umbelliferae (Apiaceae) 18 (4%), Boraginaceae 17 (4%), Liliaceae 16 (4%). The number of cultivated plants are 17. The research area is in the district of Konya and is in the C4 square according to the Grid System. The phytogeographic elements are represented in the study area as follows; Iranian-Turanian (18%), Mediterranean (17%) and Euro-Siberian (2%). The phytogeographic regions of 268 (60%) taxa are either multi-regional or unknown. The number of endemic taxa is 56 (12%).

Keywords: flora, Oyukludag, Yellibel, Karaman, Turkey

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Authors: N. Perko, N. Kavran, M. Bukljas, I. Berbic

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This paper is a result of implemented research on proposed introduced methodology for nautical ports capacity planning by introducing a multi-criteria approach of defined criteria and impacts at the Adriatic Sea. The purpose was analysing the determinants -characteristics of infrastructure and services of nautical ports capacity allocated, especially nowadays due to COVID-19 pandemic, as crucial for the successful operation of nautical ports. Giving the importance of the defined priorities for short-term and long-term planning is essential not only in terms of the development of nautical tourism but also in terms of developing the maritime system, but unfortunately, this is not always carried out. Evaluation of the use of resources should follow from a detailed analysis of all aspects of resources bearing in mind that nautical tourism used resources in a sustainable manner and generate effects in the tourism and maritime sectors. Consequently, the identified multiplier effect of nautical tourism, which should be defined and quantified in detail, should be one of the major competitive products on the Croatian Adriatic and the Mediterranean. Research of nautical tourism is necessary to quantify the effects and required planning system development. In the future, the greatest threat to the long-term sustainable development of nautical tourism can be its further uncontrolled or unlimited and undirected development, especially under pressure markedly higher demand than supply for new moorings in the Mediterranean. Results of this implemented research are applicable to nautical ports management and decision-makers of maritime transport system development. This paper will present implemented research and obtained result-developed methodology for nautical port capacity planning -port capacity planning multi-criteria decision-making. A proposed methodological approach of multi-criteria capacity planning includes four criteria (spatial - transport, cost - infrastructure, ecological and organizational criteria, and additional services). The importance of the criteria and sub-criteria is evaluated and carried out as the basis for sensitivity analysis of the importance of the criteria and sub-criteria. Based on the analysis of the identified and quantified importance of certain criteria and sub-criteria, as well as sensitivity analysis and analysis of changes of the quantified importance, scientific and applicable results will be presented. These obtained results have practical applicability by management of nautical ports in the planning of increasing capacity and further development and for the adaptation of existing nautical ports. Obtained research is applicable and replicable in other seas, and results are especially important and useful in this COVID-19 pandemic challenging maritime development framework.

Keywords: Adriatic Sea, capacity, infrastructures, maritime system, methodology, nautical ports, nautical tourism, service

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Authors: Mohamed El-Bady

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The Northern Egyptian Lagoons are (from east to west) Bardawil Lagoon, Manzala Lagoon, Burullus Lagoon, Edku Lagoons and Mariute Lagoon. These lagoons have been received the bulk of drainage water from the lands of Delta and from the other coastal areas. Where, the heavy metals can occur in Lagoons environments through a variety of sources, including industries, wastewaters and domestic effluents. The potential ecological risk index (RI) calculation of the bottom sediments of the northern lagoons depends on contamination factor (CF), potential ecological risk factor and proposed toxic response factor (Tr). Each lagoon with special indices according to its conditions.

Keywords: Northern Lagoons, Nile Delta, ecological risk index, contamination factor

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Authors: Farzad Jalilian, Mehdi Mirzaei Alavijeh

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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

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Authors: Adaku Thelma Olatise

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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

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