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This study aimed to understand the new management challenges related to the impact of climate change on biodiversity, deterioration of agricultural productivity, food security, and increasing rates of desertification. This constitutes an important indicator for studying Land Degradation Neutrality (SDGs Target 15.3), which is considered a significant target in achieving the Sustainable Development Goals 2030. The present study is concerned with assessing and monitoring land management and land degradation in Wadi El Farigh from 2000 to 2019. Soil quality is a major part of the chain that leads to understanding sustainable land management of natural resources (land, groundwater, and natural vegetation). A geopedological approach produced the studied area’s physiographic and soil map. The study of changes in land degradation level in Wadi El Farigh over 20 years with a period of every five years shows a very high improvement in the study area from the year 2000 up to 2014. From 2015 to 2019, this class was reduced due to the effects of land degradation reflected by the use of saline water for irrigating crops. Using remote sensing and geostatistical analyses within the GIS environment illustrated that the soils were classified as Entisols, representing 79.45 of the total studied area, and Aridisols representing 20.55% of the total studied area. [ABSTRACT FROM AUTHOR]

The objective of this study was to improve the survival of lactic acid bacteria (LAB) in Tarhana soup as a non-dairy matrix. Lactobacillus delbrueckii subsp. bulgaricus and Streptococcus thermophiles were encapsulated in electrospun nanofiber mats fabricated from corn starch (CS) and sodium alginate (SA) and the protective effect of the nanofibers were investigated on the cells during the preparation of Tarhana and in the gastrointestinal tract. The moisture content of the control and nanofiber- loaded dried Tarhana samples was 8.75 and 8.71%, respectively; therefore, using nanofiber mats in the formulation had no significant effect on the moisture content of the samples. A negative zeta potential value of -15.1 mV was found for LAB- loaded nanofibers. The nanofibers mats prepared from SA and CS mix showed a bead- free and clean structure with uniformity in size. The diameter size of most of the fibers ranged from 175- 338 with an average of 265 nm. Loading nanofiber mats with L. delbrueckii subsp. bulgaricus and S. thermophilus cells led to a uniform distributed beaded structure and the average diameter enhanced to approximately 763 nm. The viability of L. delbrueckii and S. thermophilus at the end of the electrospinning process was 92.82% and 95.83%, respectively, which indicating a slight loss in their population. Survival of nanoencapsulated S. thermophilus and L. delbrueckii was 93.50% and 89.16% respectively, while for free cells it was 85.3 and 76.4% that showed considerable protective effect of CS/SA fibers on the cells against dehydration of Tarhana medium. Nanofiber mats improved the stability of the cells against ordinary heat treatment used in preparing Tarhana soup. The survival rate of S. thermophilus was higher than L. delbrueckii subsp. bulgaricus and a significant difference was observed between the viability of free and nanoencapsulated bacteria. The survival of CS/SA nanoencapsulated S. thermophilus and L. delbrueckii subsp. bulgaricus was 83.25% and 80.21%, respectively, which is indicative of the significant protective effect of fibers on the cells against the heating process. The nanofibers also provided good stability for the cells in the gastrointestinal tract as 106 to 107 CFUg-1 of the cells were survived which is within the recommended level of potential probiotic dose to be effective. There was no significant difference in the color of all samples. Nanoencapsulation in CS/ SA nanofiber mats improved the protection of both LAB strains in simulated fluids of the stomach and intestine (Table 4). After continuous exposure to simulated gastrointestinal fluid, a significant loss of viable free LAB cells (higher than 4 log CFU/ml) was found while the population of S. thermophilus and L. delbrueckii subsp. bulgaricus encapsulated in CS/ SA nanofibers decreased only 0.45 and 0.37 log CFU after 120 min (p> 0.01), 0.93 and 0.80 log CFU after 180 min (p< 0.01), respectively. Tarhana soup prepared with probiotic– loaded nanofibers gained higher scores in terms of consistency, mouth feel, odor, taste, flavor, and overall acceptability attributes. Tarhana soup with nanofibers possessed much sour taste and flavor than samples prepared with free cells of probiotics. The results of the present study indicated that the protection obtained from CS/ SA capsules secured around106 to 107 CFU/g of the probiotic cells which are within the recommended level of probiotic dose to be functional in consumers’ body. Therefore, this product can be used by the consumers like vegetarians and lactose or milk peptide intolerants who do not consume dairy products but need potential fermented probiotic food.

Background & Purpose: Today, human resources is one of the most important assets in the organization, and many solutions are made to use its practices optimally and effectively. Blockchain technology has the potential to fundamentally change the perspective of human resources. Thus, in order to better understand the efficiency of this technology in human resource management, the present study reviews the results of studies conducted on this subject.Methodology: This research is qualitative, applied, and descriptive. Sources of information from articles published on blockchain technology in human resource management were searched three two scientific databases: Scopus (Elsevier), Web of Science and Google Scholar.Findings: After reviewing the extracted studies, their results were described generally in three separate sections of applications, opportunities and challenges of blockchain technology in human resource management. The highest function was in employment-related practices by creating opportunities such as preventing fraud, maintaining a secure record, and reducing costs.Conclusion: These findings can provide an overview of the blockchain for human resource management that provides the opportunities and applications it creates. More attention should be paid to its establishment to have optimal and effective practices in human resource management.

This paper describes the ability of wild plants to be investigated as feedstock in biogas production. Anaerobic degradation of four wild halophytes and salt-tolerant plants (Avicennia marina, Tamarix nilotica, Zygophyllum album, and Zygophyllum coccineum) collected from the Red Sea coast in Egypt was studied. Lab-scale reactors were fed with dried and milled plant biomass. Obtained results showed that the highest biogas production result from A. marina 487.862 ml/VS (403.385 ml/TS) followed by T. nilotica 441.30 ml/VS (333.278 ml/TS) while 291.28 ml/VS (206.21ml/TS) and 127.923 ml/VS (81.272 ml/TS) for Z. album and Z. coccineum respectively. The chemical structure of these plants was the main factor controlling the variation in biogas production especially cations (Ca2+, Na+, K+, Mg2+) and organic fractions (volatile solids, crude fiber, crude protein). At high volatile solids with high protein content and low salt content, there was the highest biogas production in A. marina. on the other hand, increasing salt content decreasing biogas as in Z. coccineum. This indicates that the wild plants can represent a promising source for renewable energy and their solid digestate fraction can be used as biofertilizer.

Introduction: Childbirth is a physiological process that must be accomplished without any interventions. The main objective of this study was to evaluate the effects of prenatal preparation classes on the duration of labor and delivery type in primiparous women. Methods: This clinical trial was conducted on 100 primiparous women referring to the Sabalan Hospital in Ardabil, Iran, for prenatal care and delivery in 2017. The subjects were randomly assigned into two groups of intervention (n=50) and control (n=50). The intervention group participated in childbirth preparation classes (from 20th to 37th weeks of gestation) for eight 2-hour sessions implemented biweekly by a midwife. The control group received only usual pregnancy care. Trainings in the intervention group included the anatomy and physiology of women's genital organ, modifiable activity during pregnancy, personal health, abdominal breathing, nutrition, high-risk pregnancy, mental health, types of delivery, postpartum problems, newborn, and breastfeeding. After the initiation of labor, the duration of active phase, second stage of labor, and method of delivery were recorded by the researcher for both groups. The data were analyzed in SPSS software (version 18) using t-test, Chi-square, and Fisher’s exact test. P-value less than 0.05 was considered statistically significant. Results: The results of the study showed that the prenatal preparation classes reduced the duration of delivery (P

The development of new, safe, and effective methods of managing fungal pathogens is required. This study was conducted to perform an initial in vitro assessment of the antifungal activity of water-based plant extracts from three plants which are invasive in Egypt: Prosopis juliflora, Ipomoea carnea, and Leucaena leucocephala. These extracts were tested against three pathogenic fungi species that cause high crop losses in Egypt: Fusarium solani, Alternaria solani, and Colletotrichum circinans. Three extract concentrations, 10%, 20%, and 30%, were tested using a completely randomized design, with three replicates per treatment. Antifungal activity was determined based on the effects of plant extracts on fungal radial growth inhibition, average daily growth of fungi, spore formation, spore germination, and total biomass. Inhibition of the growth of fungal strains increased with increasing plant extract concentration, with the highest inhibitory rate at the 30% extract concentration. In addition, spore density, spore germination, and total biomass decreased significantly with increasing extract concentration. The three fungal pathogens differed in their inhibition and their response to these plant extracts. Prosopis juliflora had the highest inhibitory effect on the three fungal pathogens, compared to the extracts from the other two invasive plants. The results of this feasibility study indicate that P. juliflora extracts have high antifungal activity and follow-up in vivo assays should be conducted to determine their efficacy in the safe and sustainable management of these and other fungal pathogens.

Introduction: Period of menopause is known as a time of disorders or changes in such women’s bodies. However, these women don't know what these changes exactly are and how they can decrease this changes and disorders. This study mainly aimed at evaluating the effect of education on life style in menopausal women. Materials & Methods: This is a quasi-experimental study accomplished on 75 menopausal women of 50-60 years old referred to Sabalan hospital in Ardabil (easren Iran). A questionnaire of two parts was used to gather the necessary data. At first, the researcher invited menopausal women, and filled out their questionnaires through hearing their answers, then divided them into 5 groups of 15 members, and finally completed the pretest. Afterwards, the researcher trained every group in 8 sessions of one hour and a half for 8 weeks. After 8 weeks from finishing of training sessions, the researcher performed the posttest using the same questionnaire by interviewing. At the end, the data were analyzed by SPSS software (12 version), T kandal, and Mc Namar tests. Range of P value was less than 0/05. Findings: The results of this study showed that education is positively effective on the habits of nutrition, exercise, walking, and exposure to sun light, leisure time, and sleeping. Discussion & Conclusions: Education affect women manner to improve life style in menopausal period and it can cause promotion of women’s health.

Background & Objectives: Delivery is one of the most important events in a woman's life, and pain is an inevitable part of childbirth. The non-controlled pain leads to prolonged labor and multiple injuries to mother and fetus. This research was done to determine the effect of acupressure at the SP6 and LI4 points on the duration and pain of the labor in nulliparous women. Methods: This randomized controlled clinical trial was conducted on 84 nulliparous women who were attended hospital in Ardabil. The participants were divided into two intervention and control groups using randomized blocking. Pressure has been done on SP6- LI4 points in intervention group. Pain intensity was measured before and after the intervention using visual analog scales and length of active phase and second stage were recorded through vaginal exam in the checklist. Determination of the effect of pressure on the intensity of labor pain and delivery length performed using paired t-test, Student’s t-test and chi-square by SPSS v.16. Results: After the intervention the mean level of pain intensity in the intervention group was decreased. Also, there was a significant decrease in mean intensity of pain after each intervention in the intervention group with different dilations (4, 6, 8, and 10 cm) (p

Introduction:Most women have experienced child birth and its pain, which is inevitable. If this pain is not controlled it leads to prolonged labor and injury to the mother and fetus. This study was conducted to identify the effect of acupressure on sanyinjiao and hugo points on delivery pain in nulliparous women. Methods:This was a randomized controlled clinical trial on 84 nulliparous women in hospitals of Ardebil, Iran. The participants were divided by randomized blocks of 4 and 6 into two groups. The intervention was in the form of applying pressure at sanyinjiao and hugo points based on different dilatations. The intensity of the pain before and after the intervention was recorded by visual scale of pain assessment. To determine the effect of pressure on the intensity of labor pain, analytical descriptive test was conducted in SPSS (version 13). Results:There was a significant decrease in mean intensity of pain after each intervention in the experimental group with different dilatations (4, 6, 8, and 10 cm). Moreover, the Student’s independent t-test results indicated that the mean intensity of pain in the experimental group after the intervention in all four dilatations was significantly lower than the control group. Repeated measures ANOVA test indicated that in both experimental and control groups in four time periods, there was a statistically significant difference. Conclusion:Acupressure on sanyinjiao and hugo points decreases the labor pain. Therefore, this method can be used effectively in the labor process.

Collagen VI-related dystrophies (COL6-RD) display a wide spectrum of disease severity and genetic variability ranging from mild Bethlem myopathy (BM) to severe Ullrich congenital muscular dystrophy (UCMD) and the intermediate severities in between with dual modes of inheritance, dominant and recessive. In the current study, next-generation sequencing demonstrated potential variants in the genes coding for the three alpha chains of collagen VI (COL6A1, COL6A2, or COL6A3) in a cohort of Egyptian patients with progressive muscle weakness (n = 23). Based on the age of disease onset and the patient clinical course, subjects were diagnosed as follows: 12 with UCMD, 8 with BM, and 3 with intermediate disease form. Fourteen pathogenic variants, including 5 novel alterations, were reported in the enrolled subjects. They included 3 missense, 3 frameshift, and 6 splicing variants in 4, 3, and 6 families, respectively. In addition, a nonsense variant in a single family and an inframe variant in 3 different families were also detected. Recessive and dominant modes of inheritance were recorded in 9 and 8 families, respectively. According to ACMG guidelines, variants were classified as pathogenic (n = 7), likely pathogenic (n = 4), or VUS (n = 3) with significant pathogenic potential. To our knowledge, the study provided the first report of the clinical and genetic findings of a cohort of Egyptian patients with collagen VI deficiency. Inter- and intra-familial clinical variability was evident among the study cohort., (© 2024. The Author(s).)

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., (© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species., Competing Interests: Declaration of interests The authors declare no competing interests., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)

Introduction: We report on a 4-year-old female patient who presented with severe intellectual disability, autistic features, hyperlaxity of joints, and progressive scoliosis. Whole-exome sequencing identified a de novo missense variant (c.976C>T; p.Arg326Cys) in DDX3X ., Case Presentation: The girl was born with congenital diaphragmatic hernia a finding which had not previously been associated with variants in DDX3X . Her brain MRI showed hypogenesis of corpus callosum, ventriculomegaly, frontal and perisylvian polymicrogyria, and hypoplastic pons in addition to Dandy-Walker malformation., Conclusion: Our results confirmed the phenotype and genotype correlation of missense variants and the polymicrogyria. Moreover, it further expands the knowledge of the phenotypic and molecular features of DDX3X- related intellectual disability., Competing Interests: The authors have no conflicts of interest to declare., (© 2023 S. Karger AG, Basel.)

Pathogenic biallelic variants in LSS are associated with three Mendelian rare disease traits including congenital cataract type 44, autosomal recessive hypotrichosis type 14, and alopecia-intellectual disability syndrome type 4 (APMR4). We performed trio research exome sequencing on a family with a four-year-old male with global developmental delay, epilepsy and striking alopecia, and identified novel compound heterozygous LSS splice site (c.14+2T>C) and missense (c.1357 G>A; p.V453L) variant alleles. Rare features associated with APMR4 such as cryptorchidism, micropenis, mild cortical brain atrophy and thin corpus callosum were detected. Previously unreported APMR4 findings including cerebellar involvement in the form of unsteady ataxic gait, small vermis with prominent folia, were noted. A review of all reported variants to date in 29 families with LSS-related phenotypes showed an emerging genotype-phenotype correlation. Our report potentially expands LSS-related phenotypic spectrum and highlights the importance of performing brain imaging in LSS-related conditions., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

This study presents 46 patients from 23 unrelated Egyptian families with ALS2-related disorders without evidence of lower motor neuron involvement. Age at onset ranged from 10 months to 2.5 years, featuring progressive upper motor neuron signs. Detailed clinical phenotypes demonstrated inter- and intrafamilial variability. We identified 16 homozygous disease-causing ALS2 variants; sorted as splice-site, missense, frameshift, nonsense and in-frame in eight, seven, four, three, and one families, respectively. Seven of these variants were novel, expanding the mutational spectrum of the ALS2 gene. As expected, clinical severity was positively correlated with disease onset (p = 0.004). This work provides clinical and molecular profiles of a large single ethnic cohort of patients with ALS2 mutations, and suggests that infantile ascending hereditary spastic paralysis (IAHSP) and juvenile primary lateral sclerosis (JPLS) are belonged to one entity with no phenotype-genotype correlation., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Deep learning techniques have recently demonstrated remarkable success in numerous domains. Typically, the success of these deep learning models is measured in terms of performance metrics such as accuracy and mean average precision (mAP). Generally, a model's high performance is highly valued, but it frequently comes at the expense of substantial energy costs and carbon footprint emissions during the model building step. Massive emission of CO2 has a deleterious impact on life on earth in general and is a serious ethical concern that is largely ignored in deep learning research. In this article, we mainly focus on environmental costs and the means of mitigating carbon footprints in deep learning models, with a particular focus on models created using knowledge distillation (KD). Deep learning models typically contain a large number of parameters, resulting in a 'heavy' model. A heavy model scores high on performance metrics but is incompatible with mobile and edge computing devices. Model compression techniques such as knowledge distillation enable the creation of lightweight, deployable models for these low-resource devices. KD generates lighter models and typically performs with slightly less accuracy than the heavier teacher model (model accuracy by the teacher model on CIFAR 10, CIFAR 100, and TinyImageNet is 95.04%, 76.03%, and 63.39%; model accuracy by KD is 91.78%, 69.7%, and 60.49%). Although the distillation process makes models deployable on low-resource devices, they were found to consume an exorbitant amount of energy and have a substantial carbon footprint (15.8, 17.9, and 13.5 times more carbon compared to the corresponding teacher model). The enormous environmental cost is primarily attributable to the tuning of the hyperparameter, Temperature (τ). In this article, we propose measuring the environmental costs of deep learning work (in terms of GFLOPS in millions, energy consumption in kWh, and CO2 equivalent in grams). In order to create lightweight models with low environmental costs, we propose a straightforward yet effective method for selecting a hyperparameter (τ) using a stochastic approach for each training batch fed into the models. We applied knowledge distillation (including its data-free variant) to problems involving image classification and object detection. To evaluate the robustness of our method, we ran experiments on various datasets (CIFAR 10, CIFAR 100, Tiny ImageNet, and PASCAL VOC) and models (ResNet18, MobileNetV2, Wrn-40-2). Our novel approach reduces the environmental costs by a large margin by eliminating the requirement of expensive hyperparameter tuning without sacrificing performance. Empirical results on the CIFAR 10 dataset show that the stochastic technique achieves an accuracy of 91.67%, whereas tuning achieves an accuracy of 91.78%-however, the stochastic approach reduces the energy consumption and CO2 equivalent each by a factor of 19. Similar results have been obtained with CIFAR 100 and TinyImageNet dataset. This pattern is also observed in object detection classification on the PASCAL VOC dataset, where the tuning technique performs similarly to the stochastic technique, with a difference of 0.03% mAP favoring the stochastic technique while reducing the energy consumptions and CO2 emission each by a factor of 18.5., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Rafat et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Spondyloenchondrodysplasia (SPENCD) is an immune-osseous disorder caused by biallelic variants in ACP5 gene and is less commonly associated with neurological abnormalities such as global developmental delay, spasticity and seizures. Herein, we describe five new patients from four unrelated Egyptian families with complex clinical presentations including predominant neurological presentations masking the skeletal and immunological manifestations. All our patients had spasticity with variable associations of motor and mental delay or epilepsy. All except for one patient had bilateral calcification in the basal ganglia. One patient had an associated growth hormone deficiency with fair response to growth hormone therapy (GH) where the height improved from -3.0 SD before GH therapy to -2.35 SD at presentation. Patients had different forms of immune dysregulation. All patients except for one had either cellular immunodeficiency (3 patients) or combined immunodeficiency (1 patient). Whole exome sequencing was performed and revealed four ACP5 variants: c.629C > T (p.Ser210Phe), c.526C > T (p.Arg176Ter), c.742dupC (p.Gln248ProfsTer3) and c.775G > A (p.Gly259Arg). Of them, three variants were not described before. Our study reinforces the striking phenotypic variability associated with SPENCD and expands the mutational spectrum of this rare disorder. Further, it documents the positive response to growth hormone therapy in the studied patient., (© 2023. The Author(s).)

Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family. To date, only 6 variants have been reported. In this study, we evaluated genotype-phenotype correlations in individuals with biallelic SLC18A2 variants., Methods: A total of 42 affected individuals with homozygous SLC18A2 variant alleles were identified. We evaluated genotype-phenotype correlations and the missense variants in the affected individuals based on the structural modeling of rat VMAT2 encoded by Slc18a2, with cytoplasm- and lumen-facing conformations. A Caenorhabditis elegans model was created for functional studies., Results: A total of 19 homozygous SLC18A2 variants, including 3 recurrent variants, were identified using exome sequencing. The affected individuals typically showed global developmental delay, hypotonia, dystonia, oculogyric crisis, and autonomic nervous system involvement (temperature dysregulation/sweating, hypersalivation, and gastrointestinal dysmotility). Among the 58 affected individuals described to date, 16 (28%) died before the age of 13 years. Of the 17 patients with p.Pro237His, 9 died, whereas all 14 patients with p.Pro387Leu survived. Although a dopamine agonist mildly improved the disease symptoms in 18 of 21 patients (86%), some affected individuals with p.Ile43Phe and p.Pro387Leu showed milder phenotypes and presented prolonged survival even without treatment. The C. elegans model showed behavioral abnormalities., Conclusion: These data expand the phenotypic and genotypic spectra of SLC18A2-related disorders., (Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

At least 14 distinctive PEX genes function in the biogenesis of peroxisomes. Biallelic alterations in the peroxisomal biogenesis factor 12 (PEX12) gene lead to Zellweger syndrome spectrum (ZSS) with variable clinical expressivity ranging from early lethality to mildly affected with long-term survival. Herein, we define 20 patients derived from 14 unrelated Egyptian families, 19 of which show a homozygous PEX12 in-frame (c.1047&#95;1049del p.(Gln349del)) deletion. This founder mutation, reported rarely outside of Egypt, was associated with a uniformly severe phenotype. Patients showed developmental delay in early life followed by motor and mental regression, progressive hypotonia, unsteadiness, and lack of speech. Seventeen patients had sparse hair or partial alopecia, a striking feature that was not noted previously in PEX12. Neonatal cholestasis was manifested in 2 siblings. Neurodiagnostics showed consistent cerebellar atrophy and variable white matter demyelination, axonal neuropathy in about half, and cardiomyopathy in 10% of patients. A single patient with a compound heterozygous PEX12 mutation exhibited milder features with late childhood onset with gait disturbance and learning disability. Thus, the PEX12 relatively common founder mutation accounts for the majority of PEX12-related disease in Egypt and delineates a uniform clinical and radiographic phenotype.

Background: The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is very important. The aim of this study is to evaluate the frequency and types of congenital ocular anomalies among patients with genetic disorders., Patients and Methods: This is a retrospective study that was conducted in the National Research Center, Egypt at the Clinical Genetics Department over a 4-year period. Out of 2500 patients attending the outpatient clinics, a total of 61 patients with congenital ocular malformations (2.44%) were included in this study. They underwent clinical and genetic assessments., Results and Conclusions: Isolated ocular malformations were found in 70.5% while complex ocular anomalies were found in 29.5%. A total of 37.7% of the patients had a known recognizable syndrome, 24.6% of the patients were classified as having metabolic disorders and 37.7% of the patients were classified as having isolated disorders. Chromosomal abnormalities were found in 4.9% of the patients. Congenital cataract was the most frequent feature in syndromic, metabolic, and isolated disorders. Our study elucidates the significance of the early detection of ocular anomalies for appropriate diagnosis of genetic disorders.

Background: In 1990, the Iranian Ministry of Health implemented a health plan to increase mothers' knowledge of infant feeding using health workers and health volunteers. This study evaluates the effects of nutrition education on mothers' knowledge and whether increase in mothers' knowledge was associated with increase in growth of their children in Ardabil, Iran., Methods: A quasi-experimental study of the impact of written nutritional education and in-person nutritional education given to the participants (mothers) from urban health centers by health workers and health volunteers. Sixteen urban health centers located in Ardabil, Iran, were selected randomly for nutritional education. A group of 303 mothers with infants younger than 6 months of age from 16 health centers participated in this study. Height-for-age Z scores and weight-for age Z scores were calculated based on the National Center for Health Statistics reference values., Results: There were signifi cant differences between maternal nutritional knowledge before and after the intervention in all groups. However, the in-person method of instruction given by health workers was more effective in increasing mothers' knowledge than those in non-health worker volunteers intervention group. There were also significant differences between the growth rates of infants' heights and weights before and after the intervention., Conclusions and Global Health Implications: In line with the aims of the government's plan, the education given by health volunteers from non-governmental organizations was effective. However, it was less effective than the one given by professional health workers.