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1.
Cell ; 173(5): 1098-1110.e18, 2018 05 17.
Artículo en Inglés | MEDLINE | ID: mdl-29706541

RESUMEN

Bats harbor many viruses asymptomatically, including several notorious for causing extreme virulence in humans. To identify differences between antiviral mechanisms in humans and bats, we sequenced, assembled, and analyzed the genome of Rousettus aegyptiacus, a natural reservoir of Marburg virus and the only known reservoir for any filovirus. We found an expanded and diversified KLRC/KLRD family of natural killer cell receptors, MHC class I genes, and type I interferons, which dramatically differ from their functional counterparts in other mammals. Such concerted evolution of key components of bat immunity is strongly suggestive of novel modes of antiviral defense. An evaluation of the theoretical function of these genes suggests that an inhibitory immune state may exist in bats. Based on our findings, we hypothesize that tolerance of viral infection, rather than enhanced potency of antiviral defenses, may be a key mechanism by which bats asymptomatically host viruses that are pathogenic in humans.


Asunto(s)
Quirópteros/genética , Genoma , Inmunidad Innata/genética , Secuencia de Aminoácidos , Animales , Línea Celular , Quirópteros/clasificación , Quirópteros/inmunología , Mapeo Cromosómico , Reservorios de Enfermedades/virología , Egipto , Evolución Molecular , Variación Genética , Antígenos de Histocompatibilidad Clase I/clasificación , Antígenos de Histocompatibilidad Clase I/genética , Humanos , Interferón Tipo I/clasificación , Interferón Tipo I/genética , Enfermedad del Virus de Marburg/inmunología , Enfermedad del Virus de Marburg/patología , Marburgvirus/fisiología , Subfamília C de Receptores Similares a Lectina de Células NK/química , Subfamília C de Receptores Similares a Lectina de Células NK/clasificación , Subfamília C de Receptores Similares a Lectina de Células NK/genética , Subfamília D de Receptores Similares a Lectina de las Células NK/química , Subfamília D de Receptores Similares a Lectina de las Células NK/clasificación , Subfamília D de Receptores Similares a Lectina de las Células NK/genética , Filogenia , Alineación de Secuencia
2.
Genome Res ; 34(6): 877-887, 2024 Jul 23.
Artículo en Inglés | MEDLINE | ID: mdl-38977307

RESUMEN

The zoonotic parasite Cryptosporidium parvum is a global cause of gastrointestinal disease in humans and ruminants. Sequence analysis of the highly polymorphic gp60 gene enabled the classification of C. parvum isolates into multiple groups (e.g., IIa, IIc, Id) and a large number of subtypes. In Europe, subtype IIaA15G2R1 is largely predominant and has been associated with many water- and food-borne outbreaks. In this study, we generated new whole-genome sequence (WGS) data from 123 human- and ruminant-derived isolates collected in 13 European countries and included other available WGS data from Europe, Egypt, China, and the United States (n = 72) in the largest comparative genomics study to date. We applied rigorous filters to exclude mixed infections and analyzed a data set from 141 isolates from the zoonotic groups IIa (n = 119) and IId (n = 22). Based on 28,047 high-quality, biallelic genomic SNPs, we identified three distinct and strongly supported populations: Isolates from China (IId) and Egypt (IIa and IId) formed population 1; a minority of European isolates (IIa and IId) formed population 2; and the majority of European (IIa, including all IIaA15G2R1 isolates) and all isolates from the United States (IIa) clustered in population 3. Based on analyses of the population structure, population genetics, and recombination, we show that population 3 has recently emerged and expanded throughout Europe to then, possibly from the United Kingdom, reach the United States, where it also expanded. The reason(s) for the successful spread of population 3 remain elusive, although genes under selective pressure uniquely in this population were identified.


Asunto(s)
Criptosporidiosis , Cryptosporidium parvum , Brotes de Enfermedades , Cryptosporidium parvum/genética , Estados Unidos/epidemiología , Europa (Continente)/epidemiología , Humanos , Criptosporidiosis/parasitología , Criptosporidiosis/epidemiología , Animales , Genómica/métodos , Polimorfismo de Nucleótido Simple , Filogenia , Secuenciación Completa del Genoma/métodos , Genoma de Protozoos , China/epidemiología , Egipto/epidemiología
3.
Immunity ; 48(6): 1074-1076, 2018 06 19.
Artículo en Inglés | MEDLINE | ID: mdl-29924972

RESUMEN

Bats are reservoir hosts of numerous viruses that cause severe pathology in humans. How bats cope with such pathogens remains elusive. In a recent issue of Cell, Pavlovich et al. (2018) describe several key adaptations in innate immune-related genes that suggest that the Egyptian rousette fruit bat relies on immune tolerance mechanisms to manage viral infections.


Asunto(s)
Antivirales , Quirópteros , Animales , Egipto , Humanos , Tolerancia Inmunológica , Inmunidad
4.
Hum Genomics ; 18(1): 105, 2024 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-39313801

RESUMEN

BACKGROUND: We aimed to study, for the first time in the Egyptian population, the relationship between the serum adiponectin level in knee osteoarthritis (KOA) patients and its correlation with clinical, radiological, and ultrasonographic characteristics. Additionally, investigate the relationship between the adiponectin (ADIPOQ) gene rs1501299 (+ 276G/T) polymorphism and KOA susceptibility and severity. METHODS: This case-control study enrolled 40 patients with primary KOA and 40 matched controls. All patients underwent physical examination of the knee, pain assessment using the visual analogue scale (VAS), and functional evaluation by Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). Severity of KOA was assessed by Kellgren Lawrence (KL) grading scale and ultrasonography grading systems. Serum adiponectin levels and adiponectin (ADIPOQ) gene single nucleotide polymorphism (SNP) (rs1501299) genotyping were done for all patients and controls. RESULTS: The study included 40 patients with primary symptomatic KOA and 40 controls with comparable age, sex, and body mass index. The genotype of the rs1501299 (+ 276G/T) polymorphism of the ADIPOQ gene was determined using TaqMan allelic discrimination. An enzyme-linked immunosorbent test was used to measure the level of serum adiponectin. The Western Ontario and McMaster Universities Osteoarthritis (WOMAC) score was used to assess functional capability, while the visual analogue scale was utilised to assess knee pain. Using the Kellgren-Lawrence (KL) grading method and global femoral cartilage (GFC) ultrasound grading, the severity of KOA was assessed. No significant differences between patients and controls as regards the genotype distributions and allele frequencies (p = 0.400, p = 0.507, respectively) of ADIPOQ gene rs1501299 (+ 276G/T) polymorphism. Furthermore, serum adiponectin level was significantly higher in the patients compared to healthy subjects (p < 0.001). Additionally, adiponectin level had a significant negative correlation with disease severity as evaluated by KL and GFC grading (r=-0.351, p = 0.027 and r=-0.397, p = 0.011, respectively). CONCLUSIONS: The ADIPOQ gene rs1501299 (+ 276G/T) polymorphism was not associated with KOA severity or vulnerability. The level of adiponectin considerably reduced as the severity of KOA rose, indicating that adiponectin may have a preventive effect in KOA.


Asunto(s)
Adiponectina , Predisposición Genética a la Enfermedad , Osteoartritis de la Rodilla , Polimorfismo de Nucleótido Simple , Humanos , Osteoartritis de la Rodilla/genética , Osteoartritis de la Rodilla/sangre , Adiponectina/sangre , Adiponectina/genética , Masculino , Femenino , Polimorfismo de Nucleótido Simple/genética , Persona de Mediana Edad , Estudios de Casos y Controles , Genotipo , Anciano , Alelos , Índice de Severidad de la Enfermedad , Adulto , Frecuencia de los Genes/genética , Egipto
5.
Nature ; 632(8025): 479, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39112589
6.
Proc Natl Acad Sci U S A ; 119(37): e2202530119, 2022 09 13.
Artículo en Inglés | MEDLINE | ID: mdl-36037388

RESUMEN

The pyramids of Giza originally overlooked a now defunct arm of the Nile. This fluvial channel, the Khufu branch, enabled navigation to the Pyramid Harbor complex but its precise environmental history is unclear. To fill this knowledge gap, we use pollen-derived vegetation patterns to reconstruct 8,000 y of fluvial variations on the Giza floodplain. After a high-stand level concomitant with the African Humid Period, our results show that Giza's waterscapes responded to a gradual insolation-driven aridification of East Africa, with the lowest Nile levels recorded at the end of the Dynastic Period. The Khufu branch remained at a high-water level (∼40% of its Holocene maximum) during the reigns of Khufu, Khafre, and Menkaure, facilitating the transportation of construction materials to the Giza Pyramid Complex.


Asunto(s)
Industria de la Construcción , Ríos , Industria de la Construcción/historia , Egipto , Historia Antigua
7.
BMC Genomics ; 25(1): 844, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39251934

RESUMEN

BACKGROUND: Oculocutaneous albinism type1 (OCA1) is caused by the TYR gene's homozygous and compound heterozygous variants. TKFC gene variants cause triokinase & FMN cyclase deficiency syndrome with variable multisystemic disorders. OBJECTIVES: To determine the potential disease-causing variants in two deceased patients presenting atypical OCA1 features by demonstrating three generations for a single family. The two deceased neonates had severe skeletal abnormalities and fatal hypertrophic cardiomyopathy. We also explored the potential mechanisms for the causative relationship between TKFC and multisystem disorders. PATIENTS AND METHODS: Due to the new emerging symptoms that weren't reported before with the TYR gene, the following methods were performed: Sanger sequencing for the TYR gene, followed by whole exome sequencing, co-segregation, and computational analyses. RESULTS: Extensive parental consanguinity was found, and consequently an autosomal recessive mode of inheritance was prioritized. Upon performing sequencing and segregation data, the following has been confirmed: positive co-segregation of nonsense homozygous NM_000372.5:c.346C > T p.(Arg116*) variant in TYR gene and multisystem disease-missense homozygous NM_015533.4:c.598G > A p.(Val200Ile) variant in TKFC gene in the two affected index patients who deceased due to hypertrophic cardiomyopathy. Using computational analysis, we found that c.598G > A p.(Val200Ile) pathogenicity has led to the failure of L2-K1 active site closure due to the potential differential fluctuation between valine and isoleucine residues. Subsequently, disruption of endogenous DHA phosphorylation was found. Two potential mechanisms exploring the causative relationship between TKFC gene and multisystem disorders have been suggested. CONCLUSIONS: This study presented a first family with the co-existence of biallelic variants in TYR and TKFC genes associating severe skeletal abnormalities and lethal hypertrophic cardiomyopathy. Neither of these genes would have been pursued in the standard genetic counseling. Such discovery is paving the way for more efficient genetic counseling. Comparing TKFC results with literature data showed that our relevant expanded TKFC variant is the 3rd worldwide.


Asunto(s)
Linaje , Humanos , Masculino , Femenino , Egipto , Alelos , Recién Nacido , Homocigoto , Cardiomiopatía Hipertrófica/genética , Mutación , Consanguinidad
8.
BMC Genomics ; 25(1): 644, 2024 Jun 28.
Artículo en Inglés | MEDLINE | ID: mdl-38943067

RESUMEN

Faba bean is an important legume crop. The genetic diversity among faba bean genotypes is very important for the genetic improvement of target traits. A set of 128 fab bean genotypes that are originally from Egypt were used in this study to investigate the genetic diversity and population structure. The 128 genotypes were genotyped using the Single Primer Enrichment Technology (SPET) by which a set of 6759 SNP markers were generated after filtration. The SNP markers were distributed on all chromosomes with a range extending from 822 (Chr. 6) to 1872 (Chr.1). The SNP markers had wide ranges of polymorphic information content (PIC), gene diversity (GD), and minor allele frequency. The analysis of population structure divided the Egyptian faba bean population into five subpopulations. Considerable genetic distance was found among all genotypes, ranging from 0.1 to 0.4. The highly divergent genotype was highlighted in this study and the genetic distance among genotypes ranged from 0.1 and 0.6. Moreover, the structure of linkage disequilibrium was studied, and the analysis revealed a low level of LD in the Egyptian faba bean population. A slow LD decay at the genomic and chromosomal levels was observed. Interestingly, the distribution of haplotype blocks was presented in each chromosome and the number of haplotype block ranged from 65 (Chr. 4) to 156 (Chr. 1). Migration and genetic drift are the main reasons for the low LD in the Egyptian faba bean population. The results of this study shed light on the possibility of the genetic improvement of faba bean crop in Egypt and conducting genetic association analyses to identify candidate genes associated with target traits (e.g. protein content, grain yield, etc.) in this panel.


Asunto(s)
Desequilibrio de Ligamiento , Polimorfismo de Nucleótido Simple , Vicia faba , Vicia faba/genética , Egipto , Variación Genética , Genotipo , Haplotipos , Cromosomas de las Plantas/genética
9.
BMC Genomics ; 25(1): 983, 2024 Oct 21.
Artículo en Inglés | MEDLINE | ID: mdl-39434011

RESUMEN

Klebsiella pneumoniae is a common pathogen capable of causing a wide range of infections. Antibiotic resistance complicates treatment of these infections significantly. We are comparing resistance levels and genotypes among two collections of K. pneumoniae clinical isolates from Alexandria Main University Hospital (AMUH). We used disc diffusion and Minimum Inhibitory Concentration (MIC) by microbroth dilution to assess resistance levels and performed whole genome sequencing (WGS) to describe multilocus sequence types (MLST) and resistance gene presence. Among a collection of 56 K. pneumoniae clinical isolates (19 from 2019 to 37 from 2021), multidrug resistance (MDR) was 33% and 10%, extended drug resistance (XDR) was 24% and 46% and pan-drug resistance (PDR) was 43% and 43%, respectively. We identified 15 MLST STs including two novel types (ST-6118 and ST-6119 ). ST-101 and ST-383 were common between the two collections; ST-101 was the most common genotype in 2019 (28.6%) and ST-147 was most common in 2021 (25%). Ampicillin/sulbactam, amikacin, cefepime, ceftriaxone and ertapenem MICs were significantly higher in 2021. Prevalence of aph(3') - Ia, aph(3')-VI, mphA was significantly higher in 2021. The increasing resistance levels and the persistence of some MDR/XDR genotypes is concerning. Understanding mechanisms of resistance will inform infection control and antimicrobial stewardship plans to prevent evolution and spread of XDR and PDR strains.


Asunto(s)
Antibacterianos , COVID-19 , Genotipo , Klebsiella pneumoniae , Pruebas de Sensibilidad Microbiana , Klebsiella pneumoniae/genética , Klebsiella pneumoniae/efectos de los fármacos , Klebsiella pneumoniae/aislamiento & purificación , Egipto/epidemiología , Humanos , COVID-19/epidemiología , Antibacterianos/farmacología , Infecciones por Klebsiella/microbiología , Infecciones por Klebsiella/epidemiología , Infecciones por Klebsiella/tratamiento farmacológico , Farmacorresistencia Bacteriana Múltiple/genética , Tipificación de Secuencias Multilocus , SARS-CoV-2/genética , SARS-CoV-2/efectos de los fármacos , Secuenciación Completa del Genoma/métodos , Pandemias , Farmacorresistencia Bacteriana/genética
10.
Neurogenetics ; 25(2): 93-102, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38296890

RESUMEN

Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and motor developmental delay associated with brain malformations with or without eye anomalies in the most severe cases. In this study, we aimed to uncover the genetic basis of severe CMD in Egypt and to determine the efficacy of whole exome sequencing (WES)-based genetic diagnosis in this population. We recruited twelve individuals from eleven families with a clinical diagnosis of CMD with brain malformations that fell into two groups: seven patients with suspected dystroglycanopathy and five patients with suspected merosin-deficient CMD. WES was analyzed by variant filtering using multiple approaches including splicing and copy number variant (CNV) analysis. We identified likely pathogenic variants in FKRP in two cases and variants in POMT1, POMK, and B3GALNT2 in three individuals. All individuals with merosin-deficient CMD had truncating variants in LAMA2. Further analysis in one of the two unsolved cases showed a homozygous protein-truncating variant in Feline Leukemia Virus subgroup C Receptor 1 (FLVCR1). FLVCR1 loss of function has never been previously reported. Yet, loss of function of its paralog, FLVCR2, causes lethal hydranencephaly-hydrocephaly syndrome (Fowler Syndrome) which should be considered in the differential diagnosis for dystroglycanopathy. Overall, we reached a diagnostic rate of 86% (6/7) for dystroglycanopathies and 100% (5/5) for merosinopathy. In conclusion, our results provide further evidence that WES is an important diagnostic method in CMD in developing countries to improve the diagnostic rate, management plan, and genetic counseling for these disorders.


Asunto(s)
Encéfalo , Secuenciación del Exoma , Distrofias Musculares , N-Acetilglucosaminiltransferasas , Humanos , Masculino , Egipto , Femenino , Distrofias Musculares/genética , Distrofias Musculares/diagnóstico , Preescolar , Encéfalo/anomalías , Encéfalo/patología , Niño , Lactante , Laminina/genética , Receptores Virales/genética , Manosiltransferasas/genética , Linaje , Pentosiltransferasa/genética , Variaciones en el Número de Copia de ADN , Mutación , Adolescente , Malformaciones del Sistema Nervioso/genética
11.
PLoS Med ; 21(9): e1004460, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39250521

RESUMEN

BACKGROUND: Digital mental health interventions for smartphones, such as the World Health Organization (WHO) Step-by-Step (SbS) program, are potentially scalable solutions to improve access to mental health and psychosocial support in refugee populations. Our study objective was to evaluate the effectiveness of SbS as self-guided intervention with optional message-based contact-on-demand (COD) support on reducing psychological distress, functional impairment, symptoms of posttraumatic stress disorder (PTSD), and self-identified problems in a sample of Syrian refugees residing in Egypt. METHODS AND FINDINGS: We conducted a 2-arm pragmatic randomized controlled trial. A total of 538 Syrians residing in Egypt with elevated levels of psychological distress (Kessler Psychological Distress Scale; K10 > 15) and reduced psychosocial functioning (WHODAS 2.0 > 16) were randomized into SbS + CAU (N = 266) or CAU only (N = 272). Primary outcomes were psychological distress (Hopkins Symptom Checklist 25) and impaired functioning (WHO Disability Assessment Schedule 2.0) at 3-month follow-up. Secondary outcomes were symptoms of PTSD (PTSD Checklist for DSM-5 short form, PCL-5 short) and self-identified problems (Psychological Outcomes Profiles Scale, PSYCHLOPS). Intention-to-treat (ITT) analyses showed significant but small effects of condition on psychological distress (mean difference: -0.15; 95% CI: -0.28, -0.02; p = .02) and functioning (mean difference: -2.04; 95% CI: -3.87, -0.22; p = .02) at 3-month follow-up. There were no significant differences between groups on symptoms of PTSD and self-identified problems. Remission rates did not differ between conditions on any of the outcomes. COD was used by 9.4% of participants for a median of 1 contact per person. The main limitations are high intervention dropout and low utilization of COD support. CONCLUSIONS: The trial provides a real-world implementation case, showing small positive effects of a digital, potentially scalable and self-guided mental health intervention for Syrian refugees in Egypt in reducing psychological distress and improving overall functioning. Further user-centered adaptations are required to improve adherence and effectiveness while maintaining scalability. TRIAL REGISTRATION: German Register for Clinical Studies DRKS00023505.


Asunto(s)
Salud Mental , Refugiados , Trastornos por Estrés Postraumático , Humanos , Egipto , Refugiados/psicología , Siria/etnología , Femenino , Masculino , Adulto , Trastornos por Estrés Postraumático/terapia , Trastornos por Estrés Postraumático/psicología , Persona de Mediana Edad , Adulto Joven , Teléfono Inteligente , Resultado del Tratamiento , Autocuidado/métodos , Distrés Psicológico
12.
J Mol Evol ; 92(3): 338-357, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38809331

RESUMEN

Brucellosis is a notifiable disease induced by a facultative intracellular Brucella pathogen. In this study, eight Brucella abortus and eighteen Brucella melitensis strains from Egypt were annotated and compared with RB51 and REV1 vaccines respectively. RAST toolkit in the BV-BRC server was used for annotation, revealing genome length of 3,250,377 bp and 3,285,803 bp, 3289 and 3323 CDS, 48 and 49 tRNA genes, the same number of rRNA (3) genes, 583 and 586 hypothetical proteins, 2697 and 2726 functional proteins for B. abortus and B. melitensis respectively. B. abortus strains exhibit a similar number of candidate genes, while B. melitensis strains showed some differences, especially in the SRR19520422 Faiyum strain. Also, B. melitensis clarified differences in antimicrobial resistance genes (KatG, FabL, MtrA, MtrB, OxyR, and VanO-type) in SRR19520319 Faiyum and (Erm C and Tet K) in SRR19520422 Faiyum strain. Additionally, the whole genome phylogeny analysis proved that all B. abortus strains were related to vaccinated animals and all B. melitensis strains of Menoufia clustered together and closely related to Gharbia, Dameitta, and Kafr Elshiek. The Bowtie2 tool identified 338 (eight B. abortus) and 4271 (eighteen B. melitensis) single nucleotide polymorphisms (SNPs) along the genomes. These variants had been annotated according to type and impact. Moreover, thirty candidate genes were predicted and submitted at GenBank (24 in B. abortus) and (6 in B. melitensis). This study contributes significant insights into genetic variation, virulence factors, and vaccine-related associations of Brucella pathogens, enhancing our knowledge of brucellosis epidemiology and evolution in Egypt.


Asunto(s)
Brucella abortus , Brucella melitensis , Genoma Bacteriano , Genómica , Filogenia , Brucella melitensis/genética , Brucella abortus/genética , Egipto , Genómica/métodos , Animales , Brucelosis/microbiología , Vacuna contra la Brucelosis/genética , Vacunas Bacterianas
13.
J Clin Immunol ; 44(4): 92, 2024 Apr 05.
Artículo en Inglés | MEDLINE | ID: mdl-38578558

RESUMEN

PURPOSE: Leukocyte adhesion deficiency (LAD) represents a rare group of inherited inborn errors of immunity (IEI) characterized by bacterial infections, delayed umbilical stump separation, and autoimmunity. This single-center study aimed at describing the clinical, immunological, and molecular characterizations of 34 LAD-I Egyptian pediatric patients. METHODS: Details of 34 patients' personal medical history, clinical and laboratory findings were recorded; Genetic material from 28 patients was studied. Mutational analysis was done by Sanger sequencing. RESULTS: Omphalitis, skin and soft tissue infections with poorly healing ulcers, delayed falling of the umbilical stump, and recurrent or un-resolving pneumonia were the most common presentations, followed by chronic otitis media, enteropathy, periodontitis; and recurrent oral thrush. Persistent leukocytosis and neutrophilia were reported in all patients, as well as CD18 and CD11b deficiency. CD18 expression was < 2% in around 90% of patients. Sixteen different pathological gene variants were detected in 28 patients who underwent ITGß2 gene sequencing, of those, ten were novel and six were previously reported. Three families received a prenatal diagnosis. Patients were on antimicrobials according to culture's results whenever available, and on prophylactic Trimethoprim-Sulfamethoxazole 5 mg/kg once daily, with regular clinical follow up. Hematopoietic stem cell transplantation (HSCT) was offered for 4 patients. However due to severity of the disease and delay in diagnosis, 58% of the patients passed away in the first 2 years of life. CONCLUSION: This study highlights the importance of early diagnosis and distribution of ITGß2 gene mutation in Egyptian children. Further molecular studies, however, remain a challenging necessity for better disease characterization in the region.


Asunto(s)
Antígenos CD18 , Síndrome de Deficiencia de Adhesión del Leucocito , Humanos , Niño , Antígenos CD18/genética , Antígenos CD18/metabolismo , Egipto/epidemiología , Síndrome de Deficiencia de Adhesión del Leucocito/diagnóstico , Síndrome de Deficiencia de Adhesión del Leucocito/genética , Síndrome de Deficiencia de Adhesión del Leucocito/terapia , Leucocitos/metabolismo
14.
Immunogenetics ; 76(4): 243-260, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38904751

RESUMEN

HLA alleles are representative of ethnicities and may play important roles in predisposition to hematological disorders. We analyzed DNA samples for HLA-A, -B, -C, -DRB1, and -DQB1 loci, from 1550 patients and 4450 potential related donors by PCR-SSO (Polymerase chain reaction sequence-specific oligonucleotides) and estimated allele frequencies in donors and patients from 1550 families who underwent bone marrow transplantation (BMT) in Egypt. We also studied the association between HLA allele frequencies and incidence of acute myeloid leukemia, acute lymphoblastic leukemia, and severe aplastic anemia. The most frequently observed HLA class I alleles were HLA- A*01:01 (16.9%), A*02:01 (16.1%), B*41:01 (8.7%), B*49:01 (7.3%), C*06:02 (25.1%), and C*07:01 (25.1%), and the most frequently observed class II alleles were HLA-DRB1*11:01 (11.8%), DRB1*03:01 (11.6%), DQB1*03:01 (27.5%), and DQB1*05:01 (18.9%). The most frequently observed haplotypes were A*33:01~B*14:02 ~ DRB1*01:02 (2.35%) and A*01:01~B*52:01~DRB1*15:01 (2.11%). HLA-DRB1*07:01 was associated with higher AML odds (OR, 1.26; 95% CI, 1.02-1.55; p = 0.030). Only HLA-B38 antigen showed a trend towards increased odds of ALL (OR, 1.52; 95% CI, 1.00-2.30; p = 0.049) HLA-A*02:01, -B*14:02, and -DRB1*15:01 were associated with higher odds of SAA (A*02:01: OR, 1.35; 95% CI, 1.07-1.70; p = 0.010; B*14:02: OR, 1.43; 95% CI, 1.06-1.93; p = 0.020; DRB1*15:01: OR, 1.32; 95% CI, 1.07-1.64; p = 0.011). This study provides estimates of HLA allele and haplotype frequencies and their association with hematological disorders in an Egyptian population.


Asunto(s)
Alelos , Trasplante de Médula Ósea , Frecuencia de los Genes , Haplotipos , Enfermedades Hematológicas , Humanos , Egipto , Masculino , Femenino , Adolescente , Adulto , Niño , Enfermedades Hematológicas/genética , Preescolar , Trasplante Homólogo , Leucemia Mieloide Aguda/genética , Adulto Joven , Antígenos HLA/genética , Persona de Mediana Edad , Predisposición Genética a la Enfermedad , Lactante , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Anemia Aplásica/genética
15.
BMC Plant Biol ; 24(1): 148, 2024 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-38418955

RESUMEN

BACKGROUND: During a field survey of urban flora in Alexandria city in 2019-2022, an interesting species belonging to the Solanaceae was collected from a newly archaeological excavation site and identified as Nicotiana glutinosa L. Many visits were made to the herbaria of Egypt to confirm the species records, but no single record was found. Reviewing the available literature revealed that this tropical American taxon was never recorded in the flora of Egypt. AIMS: The present study was focused on N. glutinosa growth structure and plant macro- and micromorphology. METHODS: Ten sampling sites were covered for N. glutinosa size structure. Plant samples were examined for stem anatomy, leaf, seed, and pollen morphology. RESULTS: The species size structure reveals that the individual size index ranges from 1.33 to 150 cm, while its density ranges from 4 to 273 individuals /100 m-2. N. glutinosa has successfully established itself in one of the archaeological sites in Egypt, showing a "healthy" population with a high degree of size inequality, characterized by a relative majority of the juvenile individuals. Voucher specimens were deposited in the Herbarium of Alexandria University (ALEX) Faculty of Science, another specimen is processed to make herbarium specimens at the Herbarium of the Botanic Garden (Heneidy et al. collection, deposition number. 5502). CONCLUSIONS: From our observations, N. glutinosa seems to have invasive potential, as it shows characteristics shared by most invasive species that are thought to help in their successful establishment in new habitats. This article emphasizes the importance of monitoring and regularly reporting the threats of alien invasive species to avoid any possible negative impacts on indigenous biodiversity in the future.


Asunto(s)
Ecosistema , Nicotiana , Humanos , Egipto , Plantas , Especies Introducidas , Biología
16.
BMC Plant Biol ; 24(1): 403, 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38750434

RESUMEN

Cotton (Gossypium barbadense L.) is a leading fiber and oilseed crop globally, but genetic diversity among breeding materials is often limited. This study analyzed genetic variability in 14 cotton genotypes from Egypt and other countries, including both cultivated varieties and wild types, using agro-morphological traits and genomic SSR markers. Field experiments were conducted over two seasons to evaluate 12 key traits related to plant growth, yield components, and fiber quality. Molecular diversity analysis utilized 10 SSR primers to generate DNA profiles. The Molecular diversity analysis utilized 10 SSR primers to generate DNA profiles. Data showed wide variation for the morphological traits, with Egyptian genotypes generally exhibiting higher means for vegetative growth and yield parameters. The top-performing genotypes for yield were Giza 96, Giza 94, and Big Black Boll genotypes, while Giza 96, Giza 92, and Giza 70 ranked highest for fiber length, strength, and fineness. In contrast, molecular profiles were highly polymorphic across all genotypes, including 82.5% polymorphic bands out of 212. Polymorphism information content was high for the SSR markers, ranging from 0.76 to 0.86. Genetic similarity coefficients based on the SSR data varied extensively from 0.58 to 0.91, and cluster analysis separated genotypes into two major groups according to geographical origin. The cotton genotypes displayed high diversity in morphology and genetics, indicating sufficient variability in the germplasm. The combined use of physical traits and molecular markers gave a thorough understanding of the genetic diversity and relationships between Egyptian and global cotton varieties. The SSR markers effectively profiled the genotypes and can help select ideal parents for enhancing cotton through hybridization and marker-assisted breeding.


Asunto(s)
Fibra de Algodón , Variación Genética , Genotipo , Gossypium , Gossypium/genética , Gossypium/anatomía & histología , Gossypium/crecimiento & desarrollo , Repeticiones de Microsatélite , Egipto , Fenotipo
17.
BMC Plant Biol ; 24(1): 248, 2024 Apr 05.
Artículo en Inglés | MEDLINE | ID: mdl-38580955

RESUMEN

BACKGROUND: Wheat is one of the world's most important cereal crops. However, the fungal pathogen Zymoseptoria tritici can cause disease epidemics, leading to reduced yields. With climate change and development of new agricultural areas with suitable environments, Z. tritici may advance into geographical areas previously unaffected by this pathogen. It is currently unknown how Egyptian wheat will perform in the face of this incoming threat. This project aimed to assess the resistance of Egyptian wheat germplasm to Z. tritici, to identify cultivars with high levels of resistance and characterise the mechanism(s) of resistance present in these cultivars. RESULTS: Eighteen Egyptian wheat cultivars were screened against two Z. tritici model isolates and exhibited a wide spectrum of responses. This ranged from resistance to complete susceptibility to one or both isolates tested. The most highly resistant cultivars from the initial screen were then tested under two environmental conditions against modern UK field isolates. Disease levels under UK-like conditions were higher, however, symptom development on the cultivar Gemmeiza-12 was noticeably slower than on other Egyptian wheats. The robustness of the resistance shown by Gemmeiza-12 was confirmed in experiments mimicking Egyptian environmental conditions, where degree of Z. tritici infection was lower. The Kompetitive allele-specific PCR (KASP) diagnostic assay suggested the presence of an Stb6 resistant allele in several Egyptian wheats including Gemmeiza-12. Infection assays using the IPO323 WT and IPO323ΔAvrStb6 mutant confirmed the presence of Stb6 in several Egyptian cultivars including Gemmeiza-12. Confocal fluorescence microscopy demonstrated that growth of the IPO323 strain is blocked at the point of stomatal penetration on Gemmeiza-12, consistent with previous reports of Stb gene mediated resistance. In addition to this R-gene mediated resistance, IPO323 spores showed lower adherence to leaves of Gemmeiza-12 compared to UK wheat varieties, suggesting other aspects of leaf physiology may also contribute to the resistance phenotype of this cultivar. CONCLUSION: These results indicate that Gemmeiza-12 will be useful in future breeding programs where improved resistance to Z. tritici is a priority.


Asunto(s)
Ascomicetos , Triticum , Triticum/genética , Triticum/microbiología , Egipto , Fitomejoramiento , Ascomicetos/fisiología , Enfermedades de las Plantas/genética , Enfermedades de las Plantas/microbiología
18.
BMC Plant Biol ; 24(1): 924, 2024 Oct 04.
Artículo en Inglés | MEDLINE | ID: mdl-39363295

RESUMEN

BACKGROUND: Peace lily (Spathiphyllum wallisii Regel) is an ornamental indoor plant with promising cut flower market, as well as antiviral, pharmacological and ecological potentials. Water deficiency can have sound effects on the growth performance and aesthetic quality of such plant. The aim of this study was to investigate the consequences of zeolite, biochar, and zeo-char loaded nano-nitrogen application on the growth performance and biochemical components of peace lily under water shortage conditions. An experiment was conducted over two consecutive seasons (2021-2022) at the experimental nursery of Ornamental Horticulture Department, Faculty of Agriculture, Cairo University, Giza, Egypt. Soil amendments; zeolite, biochar, and zeo-char loaded nano-nitrogen were prepared and applied to soil before cultivation. RESULTS: Our results revealed that the new combination treatment (zeo-char loaded nano-N) had an exceeding significant effect on most of the studied parameters. Vegetative traits such as plant height (35.7 and 35.9%), leaf number per plant (73.3 and 52.6%), leaf area (40.2 and 36.4%), stem diameter (28.7 and 27.1%), root number (100 and 43.5%) and length (105.7 and 101.9%) per plant, and fresh weight of leaves (23.2 and 21.6%) were significantly higher than control (commercially recommended dose of NPK) with the application of zeo-char loaded nano-N during the two growing seasons, respectively. Similar significant increments were obtained for some macro- (N, P, K, Mg, Ca) and micro- (Fe, Zn, Mn) elements with the same treatment relative to control. Chlorophyll (18.4%) and total carotenoids (82.9 and 32.6%), total carbohydrates (53.3 and 37.4%), phenolics (54.4 and 86.9%), flavonoids (31.7% and 41.8%) and tannins (69.2 and 50%), in addition to the phytohormone gibberellic acid (GA3) followed the same trend with the application of zeo-char loaded nano-N, increasing significantly over control. Leaf histological parameters and anatomical structure were enhanced with the new combination treatment in comparison with control. Antioxidant enzymes (catalase and peroxidase), proline and abscisic acid (ABA) exhibited significant declines with zeo-char loaded nano-N treatment relative to control. CONCLUSION: These findings suggest that incorporating soil amendments with nano- nutrients could provide a promising approach towards improving growth performance and quality of ornamental, medicinal and aromatic species under water deficiency conditions.


Asunto(s)
Carbón Orgánico , Nitrógeno , Zeolitas , Zeolitas/química , Zeolitas/farmacología , Carbón Orgánico/química , Carbón Orgánico/farmacología , Nitrógeno/metabolismo , Agua , Suelo/química , Fertilizantes/análisis , Egipto
19.
Breast Cancer Res Treat ; 208(1): 57-66, 2024 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38916819

RESUMEN

PURPOSE: Macrophage migration inhibitory factor (MIF) is an integral cytokine for the modulation of both innate and adaptive immunity and is involved in the pathogenesis of various cancers. However, conflicting findings on the relationship between MIF polymorphisms and breast cancer (BC) have been reported in earlier research. We investigated the clinical value of serum MIF levels and the association between MIF rs1049829 and rs755622 variants with their serum levels and propensity to develop BC. METHODS: A total of 133 treatment-naïve Egyptian BC females and 126 apparently healthy controls were matriculated in this case-control study. The serum MIF protein levels were quantified by ELISA, whereas the genotyping was executed utilizing the TaqMan® allelic discrimination assay. RESULTS: A significant increase in the serum MIF level in BC cases was observed in comparison to control subjects (P < 0.0001), with a diagnostic potential to discriminate BC with 92.5% sensitivity and 73.7% specificity at a cut-off value > 9.47 ng/mL. Besides, a significant difference in serum MIF level was observed in BC cases with progesterone receptor (PR) negativity compared to those with PR positivity (P = 0.046). Moreover, a significant association was depicted between the rs1049829 variant of MIF gene and the protective effect against BC meanwhile the rs755622 variant demonstrated no significant link with BC risk. CONCLUSIONS: This study revealed that serum MIF levels may be regarded as a promising serum tumor marker for BC. Also, the rs1049829 variant of the MIF gene is considered a protective candidate against BC.


Asunto(s)
Biomarcadores de Tumor , Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Oxidorreductasas Intramoleculares , Factores Inhibidores de la Migración de Macrófagos , Polimorfismo de Nucleótido Simple , Humanos , Factores Inhibidores de la Migración de Macrófagos/sangre , Factores Inhibidores de la Migración de Macrófagos/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/sangre , Femenino , Persona de Mediana Edad , Egipto/epidemiología , Estudios de Casos y Controles , Oxidorreductasas Intramoleculares/genética , Oxidorreductasas Intramoleculares/sangre , Adulto , Biomarcadores de Tumor/sangre , Biomarcadores de Tumor/genética , Genotipo , Alelos , Anciano , Curva ROC
20.
Mol Genet Genomics ; 299(1): 56, 2024 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-38787424

RESUMEN

Breast cancer (BC) is a heterogenous disease with multiple pathways implicated in its development, progression, and drug resistance. Autophagy, a cellular process responsible for self-digestion of damaged organelles, had been recognized as eminent player in cancer progression and chemotherapeutic resistance. The haploinsufficiency of Beclin 1 (BECN1), autophagy protein, is believed to contribute to cancer pathogenesis and progression. In our study, we investigated the expression of BECN1 in a BC female Egyptian patient cohort, as well as its prognostic role through evaluating its association with disease free survival (DFS) after 2 years follow up and association of tumor clinicopathological features. Twenty frozen female BC tissue samples and 17 adjacent normal tissue were included and examined for the expression levels of BECN1. Although the tumor tissues showed lower expression 0.73 (0-8.95) than their corresponding normal tissues 1.02 (0.04-19.59), it was not statistically significant, p: 0.463. BECN1 expression was not associated with stage, nodal metastasis or tumor size, p:0.435, 0.541, 0.296, respectively. However, statistically significant negative correlation was found between grade and BECN1 mRNA expression in the studied cases, p:0.028. BECN1 expression had no statistically significant association with DFS, P = 0.944. However, we observed that triple negative (TNBC) cases had significantly lower DFS rate than luminal BC patients, p: 0.022, with mean DFS 19.0 months, while luminal BC patients had mean DFS of 23.41 months. Our study highlights the potential role of BECN1 in BC pathogenesis, showing that BECN1 expression correlates with poorer differentiation of BC, indicating its probable link with disease aggressiveness. DFS two years follow up showed that TNBC subtype remains associated with less favorable prognosis.


Asunto(s)
Beclina-1 , Neoplasias de la Mama , Clasificación del Tumor , ARN Mensajero , Humanos , Femenino , Beclina-1/genética , Beclina-1/metabolismo , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Persona de Mediana Edad , Adulto , ARN Mensajero/genética , ARN Mensajero/metabolismo , Pronóstico , Regulación Neoplásica de la Expresión Génica , Supervivencia sin Enfermedad , Biomarcadores de Tumor/genética , Anciano , Egipto
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