Molecular evaluation of Eimeria spp. Infection in the Volga-Ural Saiga antelope population of the Republic of Kazakhstan.

Saiga antelope (Saiga tatarica) is a protected species in Kazakhstan. Little is known about the parasitofauna of these mammals. Therefore, the focus of this study was to evaluate the prevalence and species diversity of Eimeria spp. infection in the Volga-Ural Saiga antelope population. In June 2023, 104 Saiga antelope fecal samples collected from the district of Zhanibek, located in the province of West Kazakhstan were evaluated using microscopic and molecular techniques. Based on coprovoscopy results, Eimeria spp. Oocysts were present in 22 samples (21%). The four fecal samples containing the largest numbers of Eimeria spp. Oocysts per 10x field were selected for further genetic analysis. DNA extraction, nested PCR amplification, and sequencing were performed on 91 clones, with 80 clones forming a distinct clade and exhibiting genetic similarity to MT801034 Eimeria sp. Voucher HY3. These clones possibly represent an Eimeria specific to Saiga antelopes and gazelle that has previously been morphologically described as Eimeria elegans (Svanbaev, 1979), underscoring the importance of further research into parasitic infections in this protected species.

Calculating the fatigue strength of load-bearing structures of special self-propelled rolling stock.

This research primarily focuses on the strength indicators of the bearing structures of ADM-1 special self-propelled rolling stock. The special self-propelled rolling stock used by Uzbek railroads reaching the end of their functional life is a pertinent problem as Uzbekistan's railway system is growing rapidly, but there is a lack of enough funds to buy new special self-propelled rolling stock. Hence, it is vital to fix the issues with ADM-1 special self-propelled rolling stock by overhauling them. At the outset, the researchers divided the frame of a special a self-propelled rolling stock into multiple sections. Subsequently, these individual sections were analyzed closely to spot out issues. The precise location of the fatigue defect occurrence on the longitudinal beams was determined by the analysis of the individual sections of the special self-propelled rolling stock. During the motor carriage's modernization, which is an approach to extend the service life and improve the durability of special self-propelled rolling stock, this analysis helped in pinpointing exactly the location on the frame where the stress measurements had to be calculated. Pre- and post-modernization calculations were carried out on the vehicle to determine the optimal placement of the reinforcing plates. Additionally, normative calculations were also conducted and a new design mode distinct from the repair loads was implemented. The computation results revealed that the fatigue resistance reserve coefficient and service life value prior to the bearing structure's modernization in section 1 were below the required values of n = 1.5 and 1.49, respectively. All the sections of the load-bearing structure fulfilled the fatigue resistance reserve coefficient standards after the modernization. The computational model of the motor carriage's structural strength was created in the ANSYS Workbench platform. This research intends to enhance the strength determination procedures and provides recommendations for design and restoration of modern structures of special self-propelled rolling stock.

3D-printed neck phantoms with detailed anatomy for ultrasound-guided procedure and device testing.

Objectives: With rapid advances in ultrasound-guided procedures, there is an unmet need for echogenic phantoms with sufficient anatomical details for artificial intelligence and ultrasound-guided device testing. We developed a method for creating neck phantoms for novel otolaryngology-related device testing. To achieve accurate representation of the anatomy, we utilized CT scans and 3D printing technology to create customized agar molds, thus providing high-fidelity yet cost-effective tools. Methods: Based on previous studies, the key components in our neck phantom include the cervical vertebrae, trachea, common carotid arteries, internal jugular veins, thyroid gland, and surrounding soft tissue. Open-source image analysis software were employed to process CT data to generate high fidelity 3D models of the target structures. Resin molds were 3D printed and filled with various agar mixtures to mimic anatomical echogenicity. Results: Following the method proposed, we successfully assembled the neck phantom which provided a detailed representation of the target structures. To evaluate the results, ultrasound data was collected on the phantom and living tissue and analyzed with ImageJ. We were able to demonstrate echogenicity comparable to that of living tissue. Conclusion: The proposed method for building neck phantoms with detailed anatomical features offers a valuable, detailed, low-cost tool for medical training and device testing in otolaryngology, particularly for novel devices that involve artificial intelligence (AI) guidance and robotic-based needle insertion. Additional anatomical refinements and validation studies could further enhance the consistency and accuracy, thus paving the way for future advancements in ultrasound training and research, and ultimately benefiting patient care and safety.

scEpiAge: an age predictor highlighting single-cell ageing heterogeneity in mouse blood.

Ageing is the accumulation of changes and decline of function of organisms over time. The concept and biomarkers of biological age have been established, notably DNA methylation-based clocks. The emergence of single-cell DNA methylation profiling methods opens the possibility of studying the biological age of individual cells. Here, we generate a large single-cell DNA methylation and transcriptome dataset from mouse peripheral blood samples, spanning a broad range of ages. The number of genes expressed increases with age, but gene-specific changes are small. We next develop scEpiAge, a single-cell DNA methylation age predictor, which can accurately predict age in (very sparse) publicly available datasets, and also in single cells. DNA methylation age distribution is wider than technically expected, indicating epigenetic age heterogeneity and functional differences. Our work provides a foundation for single-cell and sparse data epigenetic age predictors, validates their functionality and highlights epigenetic heterogeneity during ageing.

Assessing the Use of Radiographs Alone to Determine Air Force Dental Readiness Classification.

INTRODUCTION: The Air Force Dental Service is responsible for ensuring that airmen are dentally ready to support military operations worldwide by delivering top-tier dental care. As the military healthcare landscape undergoes significant changes, the Air Force Dental Service has explored innovative approaches to dental care delivery. One consideration involves the potential use of radiographs as the primary tool for assessing service members' dental conditions, specifically focusing on identifying nondeployable conditions and periodontal health. MATERIALS AND METHODS: Providers who previously participated as examiners in the 2018 Air Force Recruit Oral Health Study were recruited to re-evaluate randomly selected de-identified records, this time making assessments exclusively based on radiographs. Their evaluations included Dental Readiness Classification (DRC) determinations, total caries counts, and Periodontal Screening and Recording (PSR) index scores, providers also rated their confidence in these conclusions using a 5-point Likert scale. The study then computed sensitivity and specificity to assess the diagnostic performance of providers using radiographs only compared to the original study results that use the gold standard of radiographs with a clinical examination. RESULTS: Providers exceled at ruling out most DRC 3 conditions, with specificities surpassing 70%. Positively identifying those with DRC 3, particularly radiographically identifying periodontal conditions posed challenges with computed sensitivity rates as low as 8%. Discrepancies in PSR scores also accentuated limitations in relying solely on radiographs, where provider's radiographically determined PSR scores that matched less than one third of the time. In general, providers had low to very low confidence in their assessments. CONCLUSIONS: The study strongly cautions against relying solely on radiographs for determining the dental health of U.S. Air Force personnel. While providers effectively ruled out the absence of certain conditions, the challenge of positively identifying DRC 3 conditions poses significant risks to oral health if such a workflow was utilized. Particularly, the high probability of false negatives would be detrimental to the operational readiness of military personnel. Therefore, results support the continued use of radiographic and clinical examinations for comprehensive dental exams.

The analysis of asthma control using Markov models: MOSAR study (Multicenter Observational Study of Asthma in Rabat-Morocco).

BACKGROUND: This study aimed to analyze the probabilities of transitioning between controlled, uncontrolled, and partially controlled states of asthma patients and investigate the influence of age, smoking, dust allergy, and obesity on these probabilities. METHODS: This study aimed to analyze the probabilities of transitioning between controlled, uncontrolled, and partially controlled states of asthma patients and investigate the influence of age, smoking, dust allergy, and obesity on these probabilities. RESULTS: Results showed that controlled patients were more likely to remain in that state, with approximately 79 out of 100 patients expected to stay in optimal control in the long term. A discrete nonhomogeneous time Markov Model with the stationarity criterion was used to examine the factors affecting patient states and transitions. Patients seen during the spring and summer seasons were more likely to move into a controlled state compared with those seen in the fall and winter seasons. Patients with dust allergies and obesity significantly impacted asthma exacerbation, with overweight patients more likely to transition into a controlled state. The study estimated the transition intensities matrix under certain conditions, assuming the regularity of patients. In the long term, the probability of an asthmatic patient being in a controlled state was approximately 0.8. CONCLUSION: This study provided insights into the probabilities and factors influencing asthma progression in Morocco. Dust allergy and obesity were identified as significant contributors to asthma exacerbation, emphasizing the need for effective management strategies.

Ancient Loss of Catalytic Selenocysteine Spurred Convergent Adaptation in a Mammalian Oxidoreductase.

Selenocysteine, the 21st amino acid specified by the genetic code, is a rare selenium-containing residue found in the catalytic site of selenoprotein oxidoreductases. Selenocysteine is analogous to the common cysteine amino acid, but its selenium atom offers physical-chemical properties not provided by the corresponding sulfur atom in cysteine. Catalytic sites with selenocysteine in selenoproteins of vertebrates are under strong purifying selection, but one enzyme, glutathione peroxidase 6 (GPX6), independently exchanged selenocysteine for cysteine <100 million years ago in several mammalian lineages. We reconstructed and assayed these ancient enzymes before and after selenocysteine was lost and up to today and found them to have lost their classic ability to reduce hydroperoxides using glutathione. This loss of function, however, was accompanied by additional amino acid changes in the catalytic domain, with protein sites concertedly changing under positive selection across distant lineages abandoning selenocysteine in glutathione peroxidase 6. This demonstrates a narrow evolutionary range in maintaining fitness when sulfur in cysteine impairs the catalytic activity of this protein, with pleiotropy and epistasis likely driving the observed convergent evolution. We propose that the mutations shared across distinct lineages may trigger enzymatic properties beyond those in classic glutathione peroxidases, rather than simply recovering catalytic rate. These findings are an unusual example of adaptive convergence across mammalian selenoproteins, with the evolutionary signatures possibly representing the evolution of novel oxidoreductase functions.

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated in various pathways and mechanisms. We retrospectively studied the clinical and genetic data of patients with genetic DEE who presented at two tertiary centers in Egypt over a 10-year period. Exome sequencing was used for genetic testing. We report 74 patients from 63 unrelated Egyptian families, with a high rate of consanguinity (58%). The most common seizure type was generalized tonic-clonic (58%) and multiple seizure types were common (55%). The most common epilepsy syndrome was early infantile DEE (50%). All patients showed variable degrees of developmental impairment. Microcephaly, hypotonia, ophthalmological involvement and neuroimaging abnormalities were common. Eighteen novel variants were identified and the phenotypes of five DEE genes were expanded with novel phenotype-genotype associations. Obtaining a genetic diagnosis had implications on epilepsy management in 17 patients with variants in 12 genes. In this study, we expand the phenotype and genotype spectrum of DEE in a large single ethnic cohort of patients. Reaching a genetic diagnosis guided precision management of epilepsy in a significant proportion of patients.

Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.

Syndromic constitutive thrombocytopenia encompasses a heterogeneous group of disorders characterised by quantitative and qualitative defects of platelets while featuring other malformations. Recently, heterozygous, de novo variants in RAP1B were reported in three cases of syndromic thrombocytopenia. Here, we report two additional, unrelated individuals identified retrospectively in our data repository with heterozygous variants in RAP1B: NM_001010942.2(RAP1B):c.35G>A, p.(Gly12Glu) (de novo) and NM_001010942.2(RAP1B):c.178G>A, p.(Gly60Arg). Both individuals had thrombocytopenia, as well as congenital malformations, and neurological, behavioural, and dysmorphic features, in line with previous reports. Our data supports the causal role of monoallelic RAP1B variants that disrupt RAP1B GTPase activity in syndromic congenital thrombocytopenia.

Quantification of cyclin D1 and D2 proteins in multiple myeloma identifies different expression patterns from those revealed by gene expression profiling.

Upregulation of a cyclin D gene determined by expression microarrays is an almost universal event in multiple myeloma (MM), but this finding has not been properly confirmed at the protein level. For this reason, we carried out a quantitative analysis of cyclin D proteins using a capillary electrophoresis nanoimmunoassay in newly diagnosed MM patients. Exclusive expression of cyclin D1 and D2 proteins was detected in 54 of 165 (33%) and 30 of 165 (18%) of the MM patients, respectively. Of note, cyclin D1 or D2 proteins were undetectable in 41% of the samples. High levels of cyclin D1 protein were strongly associated with the presence of t(11;14) or 11q gains. Cyclin D2 protein was detected in all the cases bearing t(14;16), but in only 24% of patients with t(4;14). The presence of cyclin D2 was associated with shorter overall survival (hazard ratio =2.14; P=0.017), although patients expressing cyclin D2 protein, but without 1q gains, had a favorable prognosis. In conclusion, although one of the cyclins D is overexpressed at the mRNA level in almost all MM patients, in approximately half of the patients this does not translate into detectable protein. This suggests that cyclins D could not play an oncogenic role in a proportion of patients with MM (clinicaltrials gov. identifier: NCT01916252).

The effect of a mindfulness-based intervention on stress overload, depression, and mindfulness among nurses: A randomized controlled trial.

BACKGROUND: Nurses experience various health-related issues due to the nature of their work. AIM: This study aimed to examine the effect of a mindfulness-based intervention on stress overload, depression and mindfulness among nurses. A secondary objective was to examine the role of the setting (i.e., in and out of the hospital as a natural setting) on mindfulness-based intervention effectiveness. METHODS: A randomized controlled trial with three groups' pretest-posttest design was used in this study. A total of 195 nurses were recruited-65 intervention-inside hospital, 60 intervention-outside hospital, and 63 control. The mindfulness-based intervention was delivered by a certified mindfulness practitioner over 4 weeks in Jordan. Data were collected using a demographics questionnaire, the Stress Overload Scale Short, the Center for Epidemiologic Studies Depression Scale-Revised, and the Five Facet Mindfulness Questionnaire. RESULTS: Multivariate analysis showed a statistically significant effect of the intervention on the linear combination of the dependent variables V = 0.44, F[6, 368] = 17.56, p < .001. Follow-up analyses showed that a mindfulness-based intervention significantly decreased stress overload, depression, and increased mindfulness levels among nurses in intervention groups compared with the control group. In addition, conducting a mindfulness-based intervention outside the hospital has a better effect on mindfulness levels than the inside hospital. LINKING EVIDENCE TO ACTION: The effect of a mindfulness-based intervention on stress overload, depression, and mindfulness should be considered when planning for nurses' well-being and the quality of care provided. Nurse managers are encouraged to use the study's findings to promote nurses' well-being.

The Effect of a Mindfulness-Based Intervention on Family-Work and Work-Family Conflicts Among Nurses: A Randomized Controlled Trial.

Purpose: Nurses' working environment poses various challenges that lead to conflict between work- and family-related roles. Work-family and family-work conflicts (WFCs and FWCs) negatively affect nurses' well-being and patient outcomes. Thus, the current study examined the effectiveness of a mindfulness-based intervention on WFC and FWC among nurses. Method: A randomized controlled trial, pre-post-test design was used in the current study. A total of 123 nurses were recruited and randomly assigned to the intervention (n = 60) and control (n = 63) groups. Findings: Multivariate analysis showed that there was a statistically significant effect of the intervention on the linear combination of the dependent variables V = 0.1, F (2, 120) = 6.61, p < .01. The analyses showed that the mean difference of the WFCs and FWCs scores was significant with the intervention group showing lower mean scores than the control group. In addition, both groups showed higher work-family conflict mean scores compared to the FWC. Discussion: The findings of this study showed that the mindfulness-based intervention significantly improved nurses' WFCs and FWCs. The results should be considered when planning for nurses' well-being and the quality of care being provided to promote holistic nursing care.

The Baveno Classification as a Predictor of CPAP Titration Pressure in Obstructive Sleep Apnea Syndrome.

INTRODUCTION: Obstructive sleep apnea syndrome (OSAS) is a clinical condition characterised by repeated periods of partial or full obstruction of airflow throughout sleep, with impairment of the quality of life and increased mortality with socioeconomic impacts. CPAP therapy is a simple and effective treatment option for OSAS patients. To overcome the clinical and prognostic limitations of AHI-as a sole index of OSAS-the Baveno classification was recently set out and introduced into clinical practice. This study aims to analyse the effect of the Baveno classification on the optimum CPAP titration pressure. METHODS: A retrospective analysis of the records of sleep studies in two centres between 2018 and 2021 was carried out. Patients diagnosed with OSAS and recruited for CPAP titration were included. Based on the Baveno classification, the patients were categorised into four groups (A, B, C, and D). RESULTS: Consequently, 700 patients were analysed and 427 patients were included. A significant positive correlation was detected between the CPAP optimum titration pressure and OSAS severity, neck circumference, the oxygen desaturation index (ODI), mean oxygen saturation, the AHI, the BMI, and cumulative sleep time when the SpO2 was <90% (T90) on the other side (p: <0.0001). A non-significant correlation was seen between the Epworth Sleepiness Scale (ESS), symptom severity, end organ impact, and Baveno classification of the CPAP optimum titration pressure (p: 0.8, 0.4, 0.5, and 0.7, respectively). CONCLUSIONS: The Baveno classification is not useful in the prediction of CPAP optimum titration pressure. However, the ODI and neck circumference were significant independent predictors of a higher CPAP titration pressure.

Validación de la escala de gravedad percibida de la violencia de pareja contra la mujer en población ecuatoriana

Introducción: La violencia de pareja contra la mujer (VPM) es un problema de salud pública a nivel global cuya prevalencia en Ecuador es de las más elevadas de Latinoamérica. La gravedad percibida de la VPM influye en las actitudes públicas hacia la VPM, como la aceptabilidad, el sentido de responsabilidad personal o la disposición a intervenir en casos de VPM. Método: En este estudio se presenta la adaptación de la escala española de gravedad percibida de la VPM (PS-IPVAW) al contexto cultural ecuatoriano, en una muestra de 652 participantes. Resultados: Los resultados mostraron que la escala PS-IPVAW tiene una buena consistencia interna, que sus ítems tienen una baja carga de deseabilidad social, que es invariante entre géneros y que se relaciona con la culpabilidad a la víctima, la aceptabilidad de la VPM y el sexismo hostil. Discusión: La escala PS-IPVAW es un instrumento con suficientes evidencias de fiabilidad y validez para evaluar la gravedad percibida de la VPM en Ecuador y representa un importante aporte para mejorar las estrategias de prevención, intervención y erradicación de este tipo de violencia en el contexto ecuatoriano.

Introduction: Intimate partner violence against women (IPVAW) is a global public health problem whose prevalence in Ecuador is among the highest in Latin America. The perceived severity of IPV influences public attitudes toward IPVAW, such as acceptability, sense of personal responsibility, or willingness to intervene in cases of IPV. Method: This study presents the adaptation of the Spanish scale of perceived severity of IPVAW (PS-IPVAW) to the Ecuadorian cultural context, in a sample of 652 participants. Results: Our results showed that the PS-IPVAW scale has good internal consistency, its items presented low loadings of social desirability, that it is invariant across genders and that it is related to victim blaming, acceptability of IPV and hostile sexism. Discussion: The PS-IPVAW scale showed adequate evidence.

Metabolomics insights into the polyketide-lactones produced by Diaporthe caliensis sp. nov., an endophyte of the medicinal plant Otoba gracilipes.

IMPORTANCE: The integration of metabolomics-based approaches into the discovery pipeline has enabled improved mining and prioritization of prolific secondary metabolite producers such as endophytic fungi. However, relying on automated untargeted analysis tools might lead to misestimation of the chemical complexity harbored in these organisms. Our study emphasizes the importance of isolation and structure elucidation of the respective metabolites in addition to deep metabolome analysis for the correct interpretation of untargeted metabolomics approaches such as molecular networking. Additionally, it encourages the further exploration of endophytic fungi from traditional medicinal plants for the discovery of natural products.

Connecting the multiple dimensions of global soil fungal diversity.

How the multiple facets of soil fungal diversity vary worldwide remains virtually unknown, hindering the management of this essential species-rich group. By sequencing high-resolution DNA markers in over 4000 topsoil samples from natural and human-altered ecosystems across all continents, we illustrate the distributions and drivers of different levels of taxonomic and phylogenetic diversity of fungi and their ecological groups. We show the impact of precipitation and temperature interactions on local fungal species richness (alpha diversity) across different climates. Our findings reveal how temperature drives fungal compositional turnover (beta diversity) and phylogenetic diversity, linking them with regional species richness (gamma diversity). We integrate fungi into the principles of global biodiversity distribution and present detailed maps for biodiversity conservation and modeling of global ecological processes.

Attitudes Toward Intimate Partner Violence Against Women in Latin America: A Systematic Review.

Attitudes toward intimate partner violence against women (IPVAW) are being increasingly recognized as a central issue for comprehensively understanding this complex phenomenon. While IPVAW remains widespread in Latin America, knowledge about it and research on attitudes toward IPVAW are limited. This systematic review synthesized quantitative peer-reviewed studies that address attitudes toward IPVAW in Latin America. The review was conducted between April 2020 and July 2022 in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses recommendations using the Web of Science, Scopus, and PsycINFO databases. In total, 52 of the 149 eligible articles were selected based on the inclusion criteria. Four sets of attitudes toward IPVAW were identified: legitimacy, acceptability, attitudes toward the intervention, and perceived severity. Attitude correlates were the most common research topic in more than half of the studies but were generally focused on a single country. Among the few multi-country studies, the sample of Latin American countries was small. The remaining studies were divided into three research themes: attitude as a predictor, interventions for attitude change, and scale validation. Our study aims to motivate future research on the identified knowledge gaps and may be useful for the implementation of appropriate prevention policies and intervention programs to counter IPVAW on a regional scale.

Prevalence and risk factors of disabilities among Egyptian preschool children: a community-based population study.

BACKGROUND: Child disability has significant implications on their well-being and healthcare systems. AIM: This survey aimed to assess the magnitude of seven types of disability among Egyptian children aged 1 < 6 years and their socio-demographic, epidemiological, and perinatal predictors. METHODS: A national population-based cross-sectional household survey targeting 21,316 children from eight governorates was conducted. The screening questionnaire was derived from the WHO ten-question survey tool validated for identifying seven disability categories. RESULTS: The percentage of children with at least one disability was 8.1% as follows: speech/communication (4.4%), Mobility/physical (2.5%), Seizures (2.2%), Comprehension (1.7%), Intellectual impairment (1.4%), Visual (0.3%) and Hearing (0.2%). Age was not found to affect the odds of disability except for visual disability (significantly increased with age (AOR = 1.4, 95% CI:1.1-1.7). Male sex also increased the odds of all disabilities except visual, hearing, and seizures. Convulsions after birth significantly increased the odds of disability as follows: hearing (AOR = 8.1, 95% CI: 2.2-30.5), intellectual impairment (AOR = 4.2, 95% CI: 2.5-6.9), and mobility/physical (AOR = 3.4, 95% CI: 2.3-5.0). Preterm delivery and being kept in an incubator for more than two days after birth increased the odds for visual disability (AOR = 3.7, 95% CI: 1.1-12.1 & AOR = 3.7, 95% CI: 1.7-7.9 respectively). Cyanosis increased the odds of seizures (AOR = 4.7, 95% CI: 2.2-10.3). Low birth weight also increased the odds for all disability domains except for visual and hearing. Maternal health problems during pregnancy increased the odds for all types of disability except hearing and seizures. Higher paternal education decreased the odds for all disabilities by at least 30% except for vision and hearing. CONCLUSION: The study found a high prevalence of disability among Egyptian children aged 1-6 years. It identified a number of modifiable risk factors for disability. The practice of early screening for disability is encouraged to provide early interventions when needed.

Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

BACKGROUND: Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are associated with three Mendelian disorders: autosomal dominant (AD) Stargardt-like macular dystrophy type 3, AD spinocerebellar ataxia, and autosomal recessive disorder congenital ichthyosis, spastic quadriplegia and impaired intellectual development (ISQMR). Only seven subjects from five unrelated families with ISQMR have been described, all of which have biallelic single-nucleotide variants. METHODS: We performed clinical exome sequencing on probands from four unrelated families with neuro-ichthyosis. RESULTS: We identified three novel homozygous ELOVL4 variants. Two of the families originated from the same Saudi tribe and had the exact homozygous exonic deletion in ELOVL4, while the third and fourth probands had two different novel homozygous missense variants. Seven out of the eight affected subjects had profound developmental delay, epilepsy, axial hypotonia, peripheral hypertonia, and ichthyosis. Delayed myelination and corpus callosum hypoplasia were seen in two of five subjects with brain magnetic rosonance imaging and cerebral atrophy in three. CONCLUSION: Our study expands the allelic spectrum of ELOVL4-related ISQMR. The detection of the same exonic deletion in two unrelated Saudi family from same tribe suggests a tribal founder mutation.