Publications by authors named "Amal Bouzid"

Diagnosis of Behçet's disease (BD) has always been a challenging task due to the heterogeneity and complexity of the disease, while available literature on BD biomarkers is largely inconclusive. The aim of this study was to evaluate the expression of a panel of salivary biomarkers in a group of BD patients and test their association with BD. The study population comprised 23 BD patients (12 females and 11 males) and a control group of age and gender-matched healthy individuals.

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Prostate cancer (PCa) is considered one of the most common cancers worldwide. Despite advances in patient diagnosis, management, and risk stratification, 10%-20% of patients progress to castration-resistant disease. Our previous report highlighted a protective role of Dickkopf-3 (DKK3) in PCa stroma.

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  • The COVID-19 pandemic posed significant challenges for researchers and healthcare providers, with genetic factors like Single nucleotide variants (SNVs) in ACE2 and TMPRSS2 genes potentially influencing disease severity.
  • The study examined gene variants in Emirati patients, finding that they lacked previously identified variants linked to COVID-19 severity, but identified a new variant associated with worse outcomes specifically in female patients.
  • Results indicated that this new genetic variant affected gene transcription and was correlated with increased levels of certain cytokines and chemokines, highlighting the role of genetic factors in COVID-19 susceptibility and severity across different populations.
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The aim of this study was to evaluate the effects of two forms of tobacco smoking, cigarettes and water pipe smoking (WPS), on the expression of a panel of salivary proteins in healthy adults. Three groups of age and gender-matched participants were enrolled in the study: never-smokers, cigarette smokers and WPS (N = 55 per group). Expression of epidermal growth factor (EGF), vascular endothelial growth factor (VEGF), endothelin and transferrin in unstimulated whole saliva was estimated using enzyme-linked immunosorbent assays.

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Aims: In this study, we investigated the role of the FTO gene in pancreatic β-cell biology and its association with type 2 diabetes (T2D). To address this issue, human pancreatic islets and rat INS-1 (832/13) cells were used to perform gene silencing, overexpression, and functional analysis of FTO expression; levels of FTO were also measured in serum samples obtained from diabetic and obese individuals.

Results: The findings revealed that FTO expression was reduced in islets from hyperglycemic/diabetic donors compared to normal donors.

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  • * A study with 20 Emirati participants revealed that those with both vitamin D deficiency and obesity had significantly higher arterial stiffness compared to healthy controls, indicating potential biological underpinnings at play.
  • * Differential gene expression analysis showed activation of pathways related to inflammation and oxidative stress, suggesting these could be targeted for future preventive strategies against CVDs among affected individuals.
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Major depressive disorder (MDD) is a common mental disorder and is amongst the most prevalent psychiatric disorders. MDD remains challenging to diagnose and predict its onset due to its heterogeneous phenotype and complex etiology. Hence, early detection using diagnostic biomarkers is critical for rapid intervention.

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Titanium dental implants are one of the modalities to replace missing teeth. The release of titanium particles from the implant's surface may modulate the immune cells, resulting in implant failure. However, little is known about the immune microenvironment that plays a role in peri-implant inflammation as a consequence of titanium particles.

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Otosclerosis (OTSC) is a focal and diffuse bone disorder of the human middle ear characterized by abnormal bone growth and deposition at the stapes' footplate. This hinders the transmission of acoustic waves to the inner ear leading to subsequent conductive hearing loss. The plausible convections for the disease are genetic and environmental factors with yet an unraveled root cause.

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Background: The osteoclastogenesis RANKL gene plays a key role in bone remodeling. The hypomethylation of its promoter region may cause osteoporosis. The present study aimed to elucidate the influence of physical activity on DNA methylation changes of RANKL promoter cytosine-phosphate-guanine (CpG)-rich region in active and sedentary adults and to assess the effect of aerobic and strength training on RANKL DNA methylation changes among Tunisian-North African adults.

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Introduction: Head and neck cancer (HNC) is a highly prevalent and heterogeneous malignancy. Although extensive efforts have been made to advance its treatment, the prognosis remained poor with increased mortality. Human papillomaviruses (HPV) have been associated with high risk in HNC.

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Pathogenic germline variants in the gene are associated with the "multiple congenital anomalies-hypotonia-seizures syndrome 3" (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epilepsy. Recently, a comprehensive analysis of a cohort of 26 patients with variants has broadened the phenotypical spectrum and indicated that both p.

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Vitamin D3 deficiency, obesity, and diabetes mellitus (DM) have been shown to increase the risk of cardiovascular diseases (CVDs). However, the early detection of vascular damage in those patients is still difficult to ascertain. MicroRNAs (miRNAs) are recognized to play a critical role in initiation and pathogenesis of vascular dysfunction.

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  • * A study of 2,479 individuals indicated that T allele carriers had a significantly higher presence among chess players and PhD holders in STEM fields compared to controls, suggesting a genetic association with cognitive performance in these domains.
  • * Notably, all international chess grandmasters in the study did not carry the CC genotype, indicating a strong correlation between carrying the T allele and high-level achievement in chess and science.
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Colorectal cancer (CRC) remains the third most common cause of cancer mortality worldwide. Precision medicine using OMICs guided by transcriptomic profiling has improved disease diagnosis and prognosis by identifying many CRC targets. One such target that has been actively pursued is an erbb2 receptor tyrosine kinase 2 () (Human Epidermal Growth Factor Receptor 2 (HER2)), which is overexpressed in around 3-5% of patients with CRC worldwide.

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A strong association between obesity and COVID-19 complications and a lack of prognostic factors that explain the unpredictable severity among these patients still exist despite the various vaccination programs. The expression of angiotensin converting enzyme 2 (ACE2), the main receptor for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), is enhanced in obese individuals. The occurrence of frequent genetic single nucleotide polymorphisms (SNPs) in ACE2 is suggested to increase COVID-19 severity.

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  • Glomerulonephritis (GN) is a complicated kidney disease linked to issues with the immune system, and its relationship with complement dysregulation needs more research, especially in autoimmune and infection cases.
  • A study focused on lupus nephritis (LN) and post-infectious GN (PIGN), identifying several pathogenic and likely pathogenic gene variants in complement regulating genes, particularly noting a novel variant found prominently in patients from the Egyptian population.
  • The discovery of these variations suggests that minor genetic mutations may worsen GN disease progression, highlighting the need for additional research on how these gene variants influence patient outcomes and disease severity.
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  • A lot of money has been spent on studying the COVID-19 virus in Africa, leading to over 100,000 virus samples being analyzed to understand the spread of the disease.
  • *More countries in Africa are now able to do these studies themselves, which helps them get results faster and keep a close watch on the virus.
  • *To keep fighting COVID and other diseases, more funding and support for testing and research in Africa is really important for the future.
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Otosclerosis (OTSC) is the primary form of conductive hearing loss characterized by abnormal bone remodelling within the otic capsule of the human middle ear. A genetic association of the RELN SNP rs3914132 with OTSC has been identified in European population. Previously, we showed a trend towards association of this polymorphism with OTSC and identified a rare variant rs74503667 in a familial case.

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Otosclerosis (OTSC) is a complex bone disorder of the otic capsule, which causes conductive hearing impairment in human adults. The dysregulation of the signaling axis mediated by the receptor activator of nuclear factor-kappa-B (RANK), RANK ligand (RANKL), and osteoprotegerin has been widely attributed to the context of metabolic bone disorders. While genetic associations and epigenetic alterations in the gene (RANKL) have been well-linked to metabolic bone diseases of the skeleton, particularly osteoporosis, they have never been addressed in OTSC.

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Background: Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and is characterized by substantial intellectual difficulties as well as difficulties in conceptual, social, and practical areas of living. Several genetic and nongenetic factors contribute to its development; however, its most severe forms are generally attributed to single-gene defects. High-throughput technologies and data sharing contributed to the diagnosis of hundreds of single-gene intellectual disability subtypes.

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Intellectual disability (ID) often co-occurs with other neurologic phenotypes making molecular diagnosis more challenging particularly in consanguineous populations with the co-segregation of more than one ID-related gene in some cases. In this study, we investigated the phenotype of three patients from a large Tunisian family with significant ID phenotypic variability and microcephaly and performed a clinical exome sequencing in two cases. We identified, within the first branch, a homozygous variant in the TRAPPC9 gene (p.

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Background: 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, a variable degree of intellectual disability and ocular, cardiac and hand/feet abnormalities. To date, ZFHX4 is the only candidate gene implicated in the ocular findings.

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Introduction: Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis.

Objectives: In this study, we investigated genetic causes in 22 individuals with non- HI.

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