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  1. Article ; Online: Targeted Gene Panel Sequencing Unveiled New Pathogenic Mutations in Patients With Breast Cancer

    Souad Kartti / El Mehdi Bouricha / Oumaima Zarrik / Youssef Aghlallou / Chaimaa Mounjid / Rachid ELJaoudi / Lahcen Belyamani / Azeddine Ibrahimi / Basma EL khannoussi

    Bioinformatics and Biology Insights, Vol

    2023  Volume 17

    Abstract: The increasing commercialization of new gene panels based on next-generation sequencing for clinical research has significantly improved our understanding of breast cancer genetics and has led to the discovery of new mutation variants. The study included ...

    Abstract The increasing commercialization of new gene panels based on next-generation sequencing for clinical research has significantly improved our understanding of breast cancer genetics and has led to the discovery of new mutation variants. The study included 16 unselected Moroccan breast cancer patients tested with multi-gene panel (HEVA screen panel) using Illumina Miseq, followed by Sanger sequencing to validate the most relevant mutation. Mutational analysis revealed the presence of 13 mutations (11 single-nucleotide polymorphisms [SNPs] and 2 indels), and 6 of 11 identified SNPs were predicted as pathogenic. One of the 6 pathogenic mutations was c.7874G>C, a heterozygous SNP in HD-OB domain of BRCA2 gene, which led to the arginine to threonine change at codon 2625 of the protein. This work describes the first case of a patient with breast cancer harboring this pathogenic variant and analyzes its functional impact using molecular docking and molecular dynamics simulation. Further experimental investigations are needed to validate its pathogenicity and to verify its association with breast cancer.
    Keywords Biology (General) ; QH301-705.5
    Subject code 616
    Language English
    Publishing date 2023-06-01T00:00:00Z
    Publisher SAGE Publishing
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Significant Association of Polymorphisms in the TCF7L2 Gene with a Higher Risk of Type 2 Diabetes in a Moroccan Population

    Sarah Elhourch / Housna Arrouchi / Nour Mekkaoui / Younes Allou / Fatima Ghrifi / Loubna Allam / Naima Elhafidi / Lahcen Belyamani / Azeddine Ibrahimi / Naoual Elomri / Rachid Eljaoudi

    Journal of Personalized Medicine, Vol 11, Iss 461, p

    2021  Volume 461

    Abstract: Background and aims: Several studies have shown that genetic polymorphisms of the transcription factor 7-like 2 (TCF7L2) are highly associated with the development of type 2 diabetes mellitus (T2DM) and its associated complications in several populations. ...

    Abstract Background and aims: Several studies have shown that genetic polymorphisms of the transcription factor 7-like 2 (TCF7L2) are highly associated with the development of type 2 diabetes mellitus (T2DM) and its associated complications in several populations. The aim of our study was to investigate the association of the rs7903146 (C/T) and rs12255372 (G/T) polymorphism in the TCF7L2 gene with the risk of developing T2DM in the Moroccan population. Material and methods: A total of 150 T2DM patients and 100 healthy controls were recruited for various anthropometric, biochemical and genetic parameters. Genotyping was performed by using Real Time-PCR. The frequency of genotypes, alleles, anthropometric measures, glycemia, glycated hemoglobin (HbA1c) were evaluated in patients and control, while lipid profile was available only for T2DM group. Results: Glycemia, HbA1c and body mass index (BMI) were significantly higher in T2DM group than control. Analysis of the distribution of the TCF7L2 rs7903146 genotype and allele revealed that the TT genotype was more frequent in T2DM group (24.0%) than in healthy controls (5%) (OR = 4.08, 95% confidence interval (CI = 1.95–11.80, p < 0.0001). The T allele was more frequent in diabetic patients (45.2%) than healthy control (34.5%) and it was associated with high risk of diabetes (OR = 2.13, 95% CI = 1.12–7.31, p = 0.005). The same results were found regarding rs12255372, TT genotype frequencies were 18,7% and 6.0% in T2DM and control group, respectively (OR = 3.11, 95% CI = 1.33–7.24, p = 0.004). The T allele was over-presented in diabetics compared to controls (45.3% and 38.0%, respectively) and increases the risk of T2DM (OR = 2.01, 95% CI = 1.04–3.10, p = 0.01). However, there was no significant difference between the three genotypes of rs7903146 and rs12255372 regarding age, BMI, glycemia, HbA1c and lipid profile. Conclusion: The present study confirmed a significant association of the TCF7L2 gene (rs7903146 (C/T) and rs12255372 (G/T) polymorphisms with a higher risk to T2DM ...
    Keywords type 2 diabetes ; genetic association ; transcription factor 7-like 2 (TCF7L2) ; polymorphism ; rs7903146(C/T) ; rs12255372(G/T) ; Medicine ; R
    Subject code 616
    Language English
    Publishing date 2021-05-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Serum levels of Selenium and C-reactive protein in comatose patients with severe traumatic brain injury during the first week of hospitalization

    Bahia Belatar / Fatna Laidi / Abdelah El Abidi / Rachid Eljaoudi / Fouzia Mamouch / Saad Kabbaj / Wajdi Maazouzi

    The Pan African Medical Journal, Vol 29, Iss

    case-control study

    2018  Volume 36

    Abstract: INTRODUCTION: mortality and morbidity related to traumatic brain injuries still remain high in patients. Many authors reported the importance of Selenium in maintaining the integrity of brain functions. This fact is supported by clinical evidence that ... ...

    Abstract INTRODUCTION: mortality and morbidity related to traumatic brain injuries still remain high in patients. Many authors reported the importance of Selenium in maintaining the integrity of brain functions. This fact is supported by clinical evidence that therapy with selenium supplementation could help patients suffering from brain disorders like neurodegenerative diseases. The aim of our study was to assess the relationship between Selenium concentration in serum and evolution of comatose patients with severe traumatic brain injury, in the first week of admission, and the correlation between selenium and C-reactive protein. METHODS: this case-control study was conducted with 64 comatose patients with TBI,in the Department of Anesthesiology and Reanimation, IbnSina University Hospital and Hospital of specialties in Rabat-Morocco, and healthy volunteers recruited in Blood transfusion center of Rabat. Blood sampling was collected from TBI patients, in the first week (3h after admission and each 48h during one week), and from healthy volunteers one time. Concentration of Se in serum was determined by electrochemical atomic absorption spectrometry. Statistical analysis was performed using Statistical software (SPSS) and the cases and controls were compared using the Mann,Whitney U test. A P-value 0.05 was considered to be statistically significant. RESULTS: comparison selenium concentration in the first day (D0), third day (D2) and fifth day according to the death and survival statue in patients did not show statistical significance (p[0.05). Selenium concentration of D0 in patients and Selenium concentration in control group also did not show statistical significance (p=0.05). Similarly, we did not report a correlation between selenium and C-reactive protein. CONCLUSION: according to our data selenium and CRP may not play a role in progression of coma state in patients with severe traumatic brain injury.
    Keywords severe brain injury ; selenium ; coma ; c-reactive protein ; comatose patients ; serum selenium ; serum c-reactive protein ; Medicine ; R
    Subject code 616 ; 610
    Language English
    Publishing date 2018-01-01T00:00:00Z
    Publisher The Pan African Medical Journal
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Copper, zinc and selenium imbalance in Moroccan haemodialysis patients and its correlation to lipid peroxidation

    Rachid Eljaoudi / Mourad Errasfa / Mohammed Benyahia / Abdelali Bahadi / Yahia Cherrah / Azeddine Ibrahimi / Driss Elkabbaj

    International Journal of Research in Medical Sciences, Vol 3, Iss 8, Pp 2079-

    2015  Volume 2085

    Abstract: Background: Haemodialysis patients are at risk of developing trace elements imbalance and lipid peroxidation. The present study was aimed to assess plasma levels of copper (Cu), zinc (Zn), selenium (Se) and malondialdehyde (MDA) of haemodialysis patients ...

    Abstract Background: Haemodialysis patients are at risk of developing trace elements imbalance and lipid peroxidation. The present study was aimed to assess plasma levels of copper (Cu), zinc (Zn), selenium (Se) and malondialdehyde (MDA) of haemodialysis patients and to investigate the possible effect of haemodialysis on these trace elements and MDA imbalance. Methods: Blood samples of fifty hemodialysis patients and forty healthy controls subjects were analyzed for determination of hemoglobin, albumin, creatinine, urea and high-sensitivity C-reactive protein (hs-CRP). Cu, Zn and Se were determined in plasma (before and after hemodialysis) and erythrocytes and MDA in plasma before and after hemodialysis. Results: The study showed that, plasma Zn and Se concentrations were lower in haemodialysis patients compared to that of healthy controls, while plasma Cu, MDA and Cu/Zn ratio were higher. Plasma Cu/Zn ratios were positively correlated to MDA and weakly correlated to hs-CRP levels whereas plasma Se concentrations were inversely correlated to MDA. In addition, MDA levels increased after haemodialysis session. Conclusions: Based on the results of the present study regarding the imbalance of trace elements in haemodialysis patients, it seems reasonable to periodically assess the trace elements status and consider possible correctional therapy in case of deficiency. [Int J Res Med Sci 2015; 3(8.000): 2079-2085]
    Keywords Trace element ; Oxidative stress ; Haemodialysis ; Lipid peroxidation ; Medicine (General) ; R5-920 ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2015-08-01T00:00:00Z
    Publisher Medip Academy
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: Silent Cocaine Poisoning

    Rachid El-Jaoudi / Luc Humbert / Frederique Grisel / Yahya Cherrah / Daniel Mathieu / Michelle Lhermitte

    Asia Pacific Journal of Medical Toxicology , Vol 3, Iss 2, Pp 87-

    2014  Volume 89

    Abstract: Background: Cocaine poisoning is known for causing severe clinical effects such as tachycardia, hypertension, agitation and confusion. Absence of clinical manifestations in cocaine poisoning is unusual. Case report: A 26-year old man, known to be a ... ...

    Abstract Background: Cocaine poisoning is known for causing severe clinical effects such as tachycardia, hypertension, agitation and confusion. Absence of clinical manifestations in cocaine poisoning is unusual. Case report: A 26-year old man, known to be a cocaine addict, declared that he was forced by cocaine dealers to swallow many tablets of cocaine, six hours prior to admission to emergency department. Clinical examination, cardiac, hematological and biochemical checkups were unremarkable. The patient was clinically stable and left the hospital seven hours after admission by self-discharge. Blood and urine toxicological screening tests for benzodiazepines, barbiturates, tricyclic antidepressants and ethanol were negative. Patient’s blood sample was not sufficient for analysis of cocaine and its metabolites. Using high-performance liquid chromatography, urine and gastric lavage samples were positive for cocaine. Quantification of cocaine and its metabolites including benzoylecgonine (BZE) and ecgonine methyl ester (EME) in urine was done using gas chromatography-mass spectrometry. Results revealed high levels of cocaine and its metabolites (cocaine: 360 mg/L, BZE: 1350 mg/L, EME: 780 mg/L). Discussion: Cocaine poisoning is generally accompanied by various clinical effects. In our case, despite the confirmed poisoning, no clinical sign was noticed. Fatal poisonings were reported with cocaine urinary concentrations of lower than that found in our patient. Conclusion: Asymptomatic cocaine poisoning with high cocaine levels in urine is of note.
    Keywords Cocaine ; benzoylecgonine ; ecgonine methyl ester ; Gas Chromatography-Mass Spectrometry ; Poisoning ; Toxicology. Poisons ; RA1190-1270 ; Public aspects of medicine ; RA1-1270 ; Medicine ; R
    Subject code 610
    Language English
    Publishing date 2014-06-01T00:00:00Z
    Publisher Mashhad University of Medical Sciences
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Evaluation of the Lethal Potency of Scorpion and Snake Venoms and Comparison between Intraperitoneal and Intravenous Injection Routes

    Naoual Oukkache / Rachid Eljaoudi / Noreddine Ghalim / Fatima Chgoury / Balkiss Bouhaouala / Naima Elmdaghri / Jean-Marc Sabatier

    Toxins, Vol 6, Iss 6, Pp 1873-

    2014  Volume 1881

    Abstract: Scorpion stings and snake bites are major health hazards that lead to suffering of victims and high mortality. Thousands of injuries associated with such stings and bites of venomous animals occur every year worldwide. In North Africa, more than 100,000 ... ...

    Abstract Scorpion stings and snake bites are major health hazards that lead to suffering of victims and high mortality. Thousands of injuries associated with such stings and bites of venomous animals occur every year worldwide. In North Africa, more than 100,000 scorpion stings and snake bites are reported annually. An appropriate determination of the 50% lethal doses (LD50) of scorpion and snake venoms appears to be an important step to assess (and compare) venom toxic activity. Such LD50 values are also commonly used to evaluate the neutralizing capacity of specific anti-venom batches. In the present work, we determined experimentally the LD50 values of reference scorpion and snake venoms in Swiss mice, and evaluated the influence of two main venom injection routes (i.e., intraperitoneal (IP) versus intravenous (IV)). The analysis of experimental LD50 values obtained with three collected scorpion venoms indicates that Androctonus mauretanicus (Am) is intrinsically more toxic than Androctonus australis hector (Aah) species, whereas the latter is more toxic than Buthus occitanus (Bo). Similar analysis of three representative snake venoms of the Viperidae family shows that Cerastes cerastes (Cc) is more toxic than either Bitis arietans (Ba) or Macrovipera lebetina (Ml) species. Interestingly, the venom of Elapidae cobra snake Naja haje (Nh) is far more toxic than viper venoms Cc, Ml and Ba, in agreement with the known severity of cobra-related envenomation. Also, our data showed that viper venoms are about three-times less toxic when injected IP as compared to IV, distinct from cobra venom Nh which exhibited a similar toxicity when injected IP or IV. Overall, this study clearly highlights the usefulness of procedure standardization, especially regarding the administration route, for evaluating the relative toxicity of individual animal venoms. It also evidenced a marked difference in lethal activity between venoms of cobra and vipers, which, apart from the nature of toxins, might be attributed to the rich composition of ...
    Keywords scorpion ; snake ; venoms ; animal toxins ; lethal activity ; toxicity ; Medicine ; R
    Subject code 590
    Language English
    Publishing date 2014-06-01T00:00:00Z
    Publisher MDPI AG
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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