Search Results (72)

Background/Objectives: Contiguous Xq26.2 deletions involving FRMD7 and IGSF1 are rare and incompletely characterized. FRMD7 loss causes X-linked idiopathic infantile nystagmus (IIN), whereas IGSF1 loss causes central hypothyroidism and other pituitary-related abnormalities. We aimed to define the clinical and molecular spectrum of an Xq26.2 contiguous gene deletion in a large Bedouin kindred with infantile nystagmus. Methods: We clinically evaluated ten family members (3 males and 7 females); genomic analyses included chromosomal microarrays, whole-exome and whole-genome sequencing, breakpoint PCR, and Sanger sequencing. Results: We identified a novel 1.44-Mb Xq26.1-q26.2 deletion, NC_000023.11:g.130756102_132199443del (GRCh38), encompassing complete loss of FRMD7, IGSF1, ARHGAP36, OR13H1, and STK26 and partial deletion of the 5′ end of ENOX2. The deletion was molecularly confirmed in six family members. The kindred exhibited a broad phenotypic spectrum, from an asymptomatic confirmed female carrier to isolated nystagmus and combined ocular–endocrine manifestations. Nystagmus was highly penetrant, whereas endocrine abnormalities were less frequent and variable. Hypoprolactinemia occurred in one confirmed female carrier, and a confirmed hemizygous boy had low-normal free T4 without overt central hypothyroidism. The only relative with overt central hypothyroidism was not genotyped; therefore, co-segregation could not be established. Conclusions: These findings further delineate the clinical spectrum of Xq26.2 deletions, highlight marked intrafamilial variability, and support structural variant analysis in unexplained IIN and/or endocrine abnormalities. Longitudinal endocrine assessment of individuals with Xq26.2 deletions and at-risk relatives in affected families may enable early detection and treatment of hypothyroidism. Full article

Bedouin society in the Negev/Naqab has experienced rapid social, spatial, and economic transformation, including expanded access to higher education and paid employment alongside enduring kinship obligations and gendered expectations. Guided by an ecological perspective on family life, this qualitative descriptive study examined how married, educated, and employed Bedouin women and men described their experiences at the intersection of social change, family relationships, parenting, gendered work, and place. Twenty-four participants (12 women and 12 men), aged 28–60, participated in semi-structured interviews. Data underwent reflexive thematic analysis. Four interconnected patterns were identified: (1) negotiating household-level autonomy within extended-family belonging; (2) pursuing marital partnership while unequal care and public authority persisted; (3) treating children’s education as both an intergenerational resource and a present-day strain; and (4) experiencing locality and planning status as conditions that shaped family security and everyday coordination. Rather than presenting a linear movement from “tradition” to “modernity”, participants’ accounts suggest that family change is an ecological process: everyday marital and parental arrangements are negotiated within kin networks, work demands, community expectations, and their location’s material conditions. The study contributes to family science by showing how dual-earner family processes in a collectivist, Indigenous-minority context are shaped not only by household-level role negotiation, but also by spatial governance and collective belonging. Full article

This study examined how social and cultural contexts influence coping resources of Druze and Bedouin in the Iron Swords War in Israel. The two Arab minority groups exposed to similar existential threats but with different cultural backgrounds and relations with the Israeli state were studied. A total of 210 adolescents (115 Druze, 95 Bedouin) aged 15–18 years filled out validated questionnaires on sense of coherence, social support, institutional trust, and post-traumatic growth. Findings indicated that compared to Bedouin adolescents, Druze adolescents demonstrated a higher sense of coherence and institutional trust. Family support served as a universal resource for both groups. Bedouin adolescents displayed stronger relationships between external resources and post-traumatic growth, while Druze adolescents seemed to benefit from internal processes of meaning-making. These findings reveal two distinct pathways to post-traumatic growth shaped by structural position: an externally driven pathway for marginalized populations involving resource mobilization against barriers and an internally driven pathway for integrated populations emphasizing meaning-making. The study demonstrates that resilience is not only individual achievement but a social product, requiring both psychological intervention and structural inclusion to support adolescents during wartime. Full article

This cross-sectional study examined identity, belonging, perceived discrimination, and psychological well-being among 348 Bedouin young adults in Israel (ages 18–30; M = 20.8, SD = 3.7). The survey assessed identity endorsement and centrality, belonging to the Bedouin community, perceived discrimination, perceived identity threats, and psychological well-being. Latent class analysis identified three descriptive identity profiles: (1) Ambivalent/Moderate Bedouin (mixed identities with moderate endorsement; n = 158), (2) Bedouin-Centered (near-exclusive endorsement of Bedouin identity with limited endorsement of the other measured categories; n = 74), and (3) Integrated Religious-National Bedouin (high Bedouin, Arab, and Muslim endorsement; n = 116). The Integrated profile reported somewhat lower well-being, higher perceived discrimination, and more perceived identity threats in descriptive comparisons. In hierarchical regression, stronger belonging was associated with higher well-being and greater perceived discrimination with lower well-being after adjustment for demographics; identity profiles did not significantly improve prediction once these social experiences were included. The findings underscore that psychological well-being among Indigenous minority young adults is associated not only with identity configuration but also with the social conditions that enable belonging and reduce discrimination. Full article

Background/Objectives: Prediabetes significantly increases the risk of type 2 diabetes and related complications. Limited data exist for prediabetes among minority groups in Israel, particularly Bedouins. In the Negev region, Jewish and Bedouin populations differ markedly in culture and socioeconomic status. This study aimed to identify gender- and ethnicity-specific predictors of prediabetes. Methods: This retrospective, population-based observational exploratory study used data from 28,754 adults aged 20–65 years insured by Clalit Health Services in Southern Israel (2010–2020). Individuals with prediabetes were matched 1:1 with controls by age, gender, ethnicity, and year of diagnosis. Multivariate logistic regression models stratified by gender and ethnicity identified independent predictors. Results: Prediabetes was identified at significantly younger ages among Bedouins than Jews (6.8 years in men, 11.3 in women). The strongest predictor across all subgroups was metabolic syndrome (OR 2.0–4.0). Gestational diabetes was a major risk factor in women, particularly Jewish (OR 3.6). Cardiovascular disease and the use of statins or thiazide diuretics were independently associated with increased odds of prediabetes. Triglyceride-to-HDL cholesterol ratio was consistently elevated among prediabetes patients. Conclusions: Metabolic and medication-related factors contribute significantly to prediabetes-associated risk, with distinct gender and ethnic patterns. Culturally tailored early interventions and individualized risk profiling may enhance diabetes prevention in Southern Israel. Full article

This study examines communal and motivational mechanisms associated with well-being and ill-being among teacher education students during wartime. Drawing on self-determination theory and resilience frameworks, it focuses on environments that support autonomy, competence, and relatedness, as well as communal resilience. Participants included 332 Jewish and Arab-Bedouin students (Mean age = 26.24, SD = 6.38; 93.7% female), who completed an online questionnaire. Jewish students reported higher well-being indicators (autonomous motivation, resilience, hope, and engagement) and lower ill-being indicators (anxiety, depression, and PTSD) than Arab-Bedouin students. Structural equation modeling was used with a mediation model in which community resilience was associated with need satisfaction and need frustration, which, in turn, were associated with well-being and ill-being. Community resilience was positively associated with need satisfaction, which, in turn, was linked to resilience, hope, engagement, and autonomous motivation in both groups, and to lower ill-being among Arab-Bedouin students. It was also negatively associated with need frustration, which was linked to lower resilience among Jewish students and higher ill-being in both groups. These findings highlight SDT as a resilience theory characterized by cultural specificity during wartime and the role of communal resilience as a resource associated with well-being and ill-being among students. They emphasize educational settings as environments that promote resilience. Full article

Carbonic anhydrase VA (CA5A) deficiency (OMIM 615751) is an ultra-rare inborn error of metabolism, presenting in newborns, infants, and young children with a pentad of encephalopathy, hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia. We present two cases: a case of a healthy Bedouin infant admitted with hyperammonemic encephalopathy that required urgent hemodialysis, and her younger sibling, who presented with a milder episode. Molecular analysis confirmed the diagnosis of CA5A deficiency due to a homozygous missense variant in the CA5A gene. Both patients had a favorable outcome with continued normal development. These were the first identified cases of CA5A deficiency in the Bedouin population, emphasizing the importance of a high index of suspicion, early genetic consultation and diagnosis, and prompt treatment at the earliest possible stage of a hyperammonemic crisis. Full article

Background: Women in polygamous marriages are known to experience higher levels of psychological distress. However, less is known about how physicians perceive and interpret their complaints and how these perceptions shape the patient–physician relationship. Aim: This study aimed to examine physicians’ perceptions of somatic complaints among Bedouin Arab women in polygamous versus monogamous marriages and to explore differences in the patient–physician relationship. Methods: This quantitative study included 126 participants—75 women in monogamous marriages and 51 in polygamous marriages—along with their treating physicians. Women completed self-report measures assessing psychological distress, self-esteem, marital satisfaction, and family functioning. Physicians provided information regarding clinic utilization patterns, symptom characteristics, and their interpretations of patients’ complaints. Results: Women in polygamous marriages reported significantly higher psychological distress, greater somatization, poorer family functioning, and reduced marital satisfaction compared to women in monogamous marriages, consistent with previous research. Physicians reported more frequent unscheduled clinic visits among women in polygamous marriages and were more likely to interpret their complaints as having psychological rather than purely physical origins. These patterns reflected differences in clinical perceptions and patient–physician interactions between the groups. Conclusions: The findings highlight differences in how physicians perceive and respond to complaints presented by women in polygamous versus monogamous marriages. These results underscore the importance of culturally informed clinical approaches and increased awareness of potential biases in primary healthcare settings. Full article

Background/Objectives: The Bedouins (nomads) and the Fellahin (farmers) of Jordan represent two distinct subpopulations, characterized by unique lifestyles, settlement patterns, and linguistic features. This study aims to estimate the frequency of 27 Y-STRs in these two Jordanian subpopulations, along with various forensic parameters and paternal lineage comparisons with neighboring populations. Methods: Twenty-seven Y-STRs were typed in two major Jordanian subpopulations: Bedouin nomads (n = 101) and Fellahin farmers (n = 98). The forensic and paternal genetic lineage parameters and Y-haplogroup predictions were estimated. In addition, we conducted multidimensional scaling (MDS) and centroid analyses based on the Fst distance matrix to compare the sampled communities with neighboring populations from the MENA region, East Africa, Southeast Europe, and South Asia. Results: The Y-haplogroup predictions revealed differences in the predicted lineage composition based on the Y-STR profiles. The predicted J1a2a1a2 haplogroup predominated among the Bedouins (74.3%), whereas the Fellahin displayed a more heterogeneous profile, with notable frequencies of J1 (40%) and J2 (17.3%). Furthermore, the Fellahin exhibited remarkable genetic diversity and significant gene flow, providing plausible evidence of kinship with neighboring Levantine and Arabian groups. In contrast, the Bedouins showed consistently lower diversity across multiple loci, indicating long-term tribal isolation and, therefore, the potential effects of genetic drift. The MDS and centroid analyses positioned the Fellahin among the genetically interconnected Middle Eastern populations, while the Bedouins were clustered with the Arabian Peninsula populations. Conclusions: Overall, the contrasting genetic signatures of the two Jordanian subpopulations reflect their settlement patterns and sociocultural practices. In addition, the Y-STR dataset generated in this study enhances the Jordanian forensic database and to extends our understanding of paternal lineage structures in the West Asian/Levantine region. Full article

Background: Nasopharyngeal carcinoma (NPC) is an uncommon malignancy with a distinct geographical distribution. However, data from non-endemic areas are limited. This study aims to evaluate oncological outcomes and identify prognostic factors in a large cohort of non-metastatic NPC patients treated at a tertiary center in Israel. Methods: This single-institution, retrospective study included 181 patients diagnosed with non-metastatic NPC and treated with radiotherapy between 2005 and 2022. Data were collected from electronic medical records and included demographics, disease characteristics, treatment details, and outcomes. Recurrence-free survival (RFS) and overall survival (OS) were estimated using Kaplan–Meier analysis. Cox proportional hazards models were used to assess prognostic factors. Results: The median follow-up was 57 months. The cohort was predominantly male (82%), with a mean age of 51.7 years. Most patients had non-keratinizing histology, 75%presented with stage III–IV disease, and 86% received concurrent chemoradiotherapy. Induction chemotherapy was administered to 71%, though only 6.5% received the full three-cycle regimen. Nearly 90% were treated using modern radiotherapy techniques (VMAT), and 75% received concurrent chemotherapy. The 3-year RFS and OS were 82.6% and 91.2%, respectively; the 5-year RFS and OS were 77.7% and 84.7%. Age threshold analysis demonstrated that younger age predicted improved RFS (HR range, 3–5; p < 0.05). In the multivariate analysis, patients aged > 50 years had a significantly higher risk of recurrence (HR 6.02, 95% CI 1.30–27.85), while stage IV disease showed a borderline association with poorer RFS (HR 2.81, 95% CI 0.96–8.27), reaching statistical significance in the 30–50 years age group (HR = 7.06, 95% CI 1.14–43.76, p = 0.036). Smoking demonstrated a non-significant trend toward increased recurrence risk (HR 1.61, 95% CI 0.85–3.04). Similar patterns were seen for OS, with age >50 showing elevated but non-significant risk (HR 3.43, 95% CI 0.73–16.06), partly due to limited events. Bedouin ethnicity was associated with higher prevalence and a significantly younger age at diagnosis (39.4 ± 16.0 vs. 52.7 ± 16.9 years, p = 0.004), with a non-significantly better outcome. Conclusions: In this non-endemic cohort, favorable oncologic outcomes were observed. The age at diagnosis is a key prognostic factor. The higher incidence, younger age and better outcomes among the Bedouin ethnicity warrant further investigation calling for improved risk stratification and personalized treatment strategies. Full article

Background/Objectives: There is a growing need for programs addressing perinatal mental health, particularly for new mothers. Postpartum depression (PPD) may occur during pregnancy or within the first year postpartum, with both short- and long-term negative consequences for both mothers and their infants. This study describes the cultural adaptation, implementation, and one-year follow-up of the Mom-to-Mom (M2M) program for minority Bedouin women in Southern Israel. Methods: We conducted a community-based intervention (M2M) emphasizing cultural adaptation. Outreach efforts were conducted in collaboration with healthcare professionals to encourage referral to the M2M program. A total of 111 mothers completed a self-administered questionnaire that included socio-demographic characteristics and PPD symptoms (PPDs) at two time points: prior to the intervention (Time-1) and one year after participating in the program (Time-2). PPD was measured using the Edinburgh Postnatal Depression Scale (EPDS), using a score cutoff of ≥10. Results: There was a significant decrease in PPDs (EPDS ≥ 13) between Time-1 and Time-2 after one year of follow-up in the M2M program (from 45% to 19.8%). Of the participants, 75% were referred to the program by healthcare professionals. Among those with EPDS ≥ 10, 30% were referred to mental health services. This program provided education, professional support, and led to the establishment of the first M2M center within a Bedouin community, located in the Negev (Naqab). Conclusions: The results emphasize the importance of culturally sensitive approaches to increase awareness, early diagnosis, and professional support in addressing PPD, tailored to a cultural context. Culturally adapted programs can be effective in minority populations and contribute to reducing disparities in maternal mental health care. Full article

Before the Anthropocene, Bedouin communities in Southern Israel were based on a clan structure—a kin-based social network; clans were culturally and socially homogenous communities with a strong authority structure. Work consisted of subsistence activities necessary for physical survival. Group-based authority and cooperative problem solving were adaptive in this ecology. Throughout the Anthropocene, the Bedouin of Southern Israel have had to adapt to diverse urban environments, expanded educational opportunity, and exposure to media emanating from different cultures. Our study explored the implications of these ecological shifts for epistemic thinking by comparing three generations of 60 Bedouin families: adolescent girls, their mothers, and their grandmothers (N = 180). Families were evenly divided among three residence types differing in degree of urbanization and degree of population homogeneity: unrecognized Bedouin villages consisting of single clans; recognized Bedouin villages, towns, or cities, consisting of multiple clans; and ethnically diverse cities. Results: Across the generations, media exposure and formally educated parents have weakened the epistemic authority of family elders, in turn weakening clan identity. Ethnically diverse cities have weakened extended family identity. At the same time, personal knowledge and professional expertise have gained new cultural importance. These changes in epistemology and identity are adaptive in the ecological environments that have multiplied in the Anthropocene era. Local identity was strongest both in diverse cities, with their many attractions, and in unrecognized villages, where the population continues to occupy ancestral lands. Full article

Genomics plays a crucial role in addressing health disparities, yet most studies rely on the hg38 linear reference genome, limiting the potential of pangenomic approaches, particularly for underrepresented populations. In this study, we focus on characterising East African populations, particularly Somalis, by constructing a variation graph using Mozabites from the Human Genome Diversity Project (HGDP) given their ancestral affinity with Somalis. We evaluated the effectiveness of this graph-based reference in estimating effective population sizes (Ne) in Bedouins compared to the hg38 reference and examined its impact on allele frequencies and genome-wide association studies (GWAS). Applying a coalescent model to the graph-based reference produced a Ne estimate of approximately 17 for the Bedouin population, which was significantly lower than the estimate from the hg38 reference (approximately 79,000). Only the graph-based estimate fell within the 95% confidence interval in simulations, indicating improved accuracy. Moreover, graph variants exhibited significantly lower allele frequencies (p-value < 2.2 × 10⁻¹⁶), suggesting potential effects on the interpretation and power of GWAS. Notably, GWAS variants specific to Bedouins derived from the graph showed lower frequencies (p = 0.023) than those obtained from the linear reference. These findings suggest that a pangenomic approach, informed by populations with ancestral affinities such as the Mozabites, provides more accurate estimates of Ne and allele frequencies. This highlights the importance of pangenomic strategies to better capture genetic diversity in underrepresented populations, a critical step towards improving population genetics studies, personalised medicine, and equitable healthcare. Full article

Background: Fever of Unknown Origin (FUO) is a diagnostic challenge in pediatrics, often stemming from zoonotic infections. In southern Israel, brucellosis and rickettsiosis are endemic and share overlapping clinical features, making diagnosis difficult. We compared the demographic, clinical, and laboratory characteristics of pediatric brucellosis and rickettsiosis to aid in distinguishing between these diseases and guide early empirical treatment. Methods: We performed a retrospective cohort study, conducted between 2005 and 2020, on children who tested positive for either rickettsia or brucella. Data on demographic, clinical, laboratory, treatment, and outcome parameters were analyzed using descriptive, univariate, and multivariate statistical methods. Results: Overall, 775 patients were included, 440 with brucellosis and 335 with rickettsiosis. The majority of patients were of Bedouin ethnicity (99.5% and 90.7%, respectively). In univariate analysis, brucellosis was associated with male gender, young age, limping, anemia, and prolonged hospitalization duration. Rickettsiosis was characterized by high-grade fever, rash, headache, thrombocytopenia, elevated C-reactive protein (CRP), and gastrointestinal, respiratory, and neurological symptoms. Mortality rates were low in both groups (≤0.5%). In multivariate analysis, brucellosis was associated with limping (odds ratio = 7.27; with 95% confidence interval of 5.15–10.38), hemoglobin <10 mg/dL (2.01; 1.14–3.64), age <5 years (1.95; 1.25–3.07), warm season (1.84; 1.31–2.59), and male gender (1.57; 1.10–2.25). Rickettsiosis was associated with a rash (9.06; 3.91–24.9), CRP ≥5 mg/dL (4.03; 1.86–9.81), headache (3.01; 1.75–5.30), thrombocytopenia (2.61; 1.23–6.06), leukopenia (1.88; 1.19–2.98), and temperature ≥39.0 °C (1.66; 1.03–2.68). Conclusions: Brucellosis and rickettsiosis differ demographically and clinically in FUO cases. These findings highlight the importance of distinguishing between the two diseases for early diagnosis and targeted management, ultimately improving patient outcomes. Full article

The arid mountainous region of Hail in Saudi Arabia has a variety of desert vegetation, some of which are conventionally used in Bedouin traditional medicine. These plants need scientific examination. This research seeks to examine Blepharis ciliaris using a thorough multi-analytical methodology that includes antibacterial and antioxidant assessments as well as computational modeling. GC–MS analysis of the methanolic extract revealed 17 organic compounds, including pentadecanoic acid, ethyl methyl ester (2.63%); hexadecanoic acid, methyl ester (1.00%); 9,12-octadecadienoic acid (Z,Z)-, methyl ester (2.74%); 9-octadecenoic acid, methyl ester (E) (2.78%); octadecanoic acid (5.88%); 9-tetradecenoic acid (Z) (3.22%); and undec-10-enoic acid, undec-2-n-1-yl ester (5.67%). The DPPH test evaluated antioxidant activity, revealing a notable increase with higher concentrations of the methanolic extract, achieving maximum inhibition of 81.54% at 1000 µg/mL. The methanolic extract exhibited moderate antibacterial activity, with average inhibition zones of 10.33 ± 1.53 mm, 13.33 ± 1.53 mm, 10.67 ± 1.53 mm, and 10.00 ± 2.00 mm against Staphylococcus aureus, Bacillus subtilis, Escherichia coli, and Serratia marcescens, respectively, as determined by the disk diffusion method. The minimum inhibitory concentration (MIC) values were 500 µg/mL for S. aureus and B. subtilis, whereas E. coli and S. marcescens showed susceptibility at 1000 µg/mL. Computational simulations were employed to assess the toxicity, drug-likeness, and ADMET profiles of compounds derived from Blepharis ciliaris. Thirteen bioactive compounds were assessed in silico against Staphylococcus aureus sortase A (PDB: 1T2O), Bacillus subtilis BsFabHb (PDB: 8VDB), Escherichia coli LPS assembly protein (LptD) (PDB: 4RHB), and a modeled Serratia marcescens outer-membrane protein TolC, focusing on cell wall and membrane structures. Compound 3, (+)-Ascorbic acid 2,6-dihexadecanoate, shown significant binding affinities to B. subtilis BsFabHb, E. coli LPS assembly protein, and S. marcescens TolC. Full article