Stress is a common health problem among medical students. Higher stress among students leads to change in food preference. This study was aimed to assess the relationship between perceived stress and food pattern among final-year MBBS... more
Stress is a common health problem among medical students. Higher stress among students leads to change in food preference. This study was aimed to assess the relationship between perceived stress and food pattern among final-year MBBS student of Rawalpindi Medical University. This cross descriptive cross-sectional study was conducted among final-year MBBS students of Rawalpindi Medical University in January 2020.Data was collected through Perceived stress scale and self-structured questionnaire about demographic details and dietary habit details. Students with irregular dietary habits were excluded. Because of non-parametric nature of data, non-parametric statistical tests including Mann–Whitney test, Kruskal–Wallis test and Multinomial logistic regression were applied to assess the variables. Statistically significant differences of perceived stress were observed across gender (p=0.000) and boarding status (p=0.004). Significant differences of perceived stress were also found acros...
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Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population
Analysis of common PTPN1 gene variants in type 2 diabetes, obesity and associated phenotypes in the French population.. BMC Medicine Genet, 2006, 7, pp.44. <10.1186/1471-2350-7-44>. <inserm-00090000>
Molecular analysis of mucopolysaccharidosis type
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Unleavened flat bread (chapatti) was prepared from wheat (Tritium aestivum) and maize (Zea mays) composite flour. The wheat flours from mill and grindstone were collected from local market and blended with maize flour in 100:0, 90:10,... more
Unleavened flat bread (chapatti) was prepared from wheat (Tritium aestivum) and maize (Zea mays) composite flour. The wheat flours from mill and grindstone were collected from local market and blended with maize flour in 100:0, 90:10, 80:20 proportions. Technological and rheological studies revealed that gluten, falling number and water absorption values decreased with increased maize proportion. Increased dough development time by addition of 20% maize flour for either flour types was observed. Decrease in dough stability was observed by increased maize proportion in grindstone flour but in mill flour decrease with 10% maize and increase with 20% maize is noted. Overall Farinographic quality was highest in 20% blend of maize in grindstone flour. Chapatties were prepared and subjected to organoleptic tests by a panel of trained judges and 20% blend get maximum acceptability.
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BACKGROUND Thalassemia is one of the most prevalent worldwide autosomal recessive disorders characterized by a great molecular and clinical expression heterogeneity. Alpha and beta-thalassemia are the main two types observed in case of... more
BACKGROUND Thalassemia is one of the most prevalent worldwide autosomal recessive disorders characterized by a great molecular and clinical expression heterogeneity. Alpha and beta-thalassemia are the main two types observed in case of mutations affecting alpha and beta-globin genes respectively. Delta-thalassemia is noted when mutations occur on the delta-globin gene. In Tunisia, β-thalassemia prevalence is estimated at 2.21% of carriers. However, few reports investigated the delta-globin gene. OBJECTIVES In this work, we aimed to perform a molecular study to help define the molecular spectrum of δ-thalassemia mutations in Tunisia. PATIENTS AND METHODS The study involved 7558 patients among whom we selected 179 individuals with abnormal HbA2 values or fractions. Hemoglobin analysis was performed using Capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). DNA sequencing was performed on ABI prism 310 Genetic Analyzer Applied Biosystems. CUPSAT (Cologne Un...
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The study was conducted to prepare supplemented biscuits which could be used as nutritive snacks for malnourished children. Biscuits were prepared by supplementing chickpea and oat in patent flour (fine flour) with different ratio (5%,... more
The study was conducted to prepare supplemented biscuits which could be used as nutritive snacks for malnourished children. Biscuits were prepared by supplementing chickpea and oat in patent flour (fine flour) with different ratio (5%, 10%, 15% and 20 %). Biscuits with no supplementation were kept as control treatment. Chemical and sensory evaluation of supplemented biscuits was carried out. An increase in nutritive values have been observed with an increase in supplementation level. Proximate analysis shows that T and T get the highest values for protein, zinc and iron. Results of all treatments were in acceptable range regarding sensory evaluation. These results indicate that biscuits can be successfully supplemented with chickpea and oat. According to sensory evaluation, biscuits containing 20% chickpea and 15% oat were found to be the best among all treatments and could be a potential composition for preparing high energy biscuits for malnourished areas of Pakistan. 78
Purpose: Imports and exports play a vital role for the economic prosperity of the any country. Pakistan is a developing country and facing the trade deficit. In this paper we are trying to find the time series behavior of import and... more
Purpose: Imports and exports play a vital role for the economic prosperity of the any country. Pakistan is a developing country and facing the trade deficit. In this paper we are trying to find the time series behavior of import and export of Pakistan. Methodology: Unit root test show that data is non stationary. Johansen co-integration indicate that only one co-integration in imports and exports, exist the long run relationship between the both variables (expo, impo). Findings: The bidirectional causality existing in long- run but there is unstable situation in short run of Pakistan import and export. Recommendations: The finding of this paper show that Pakistan is not in violation of its international budget constraints.
Vitamin D (VD) cannot be considered as a true vitamin, but rather as a hormone, which exerts its action via a vitamin D receptor (VDR). Many genes have been shown to be involved in the evolution of diabetes in various populations, such as... more
Vitamin D (VD) cannot be considered as a true vitamin, but rather as a hormone, which exerts its action via a vitamin D receptor (VDR). Many genes have been shown to be involved in the evolution of diabetes in various populations, such as the vitamin D receptor gene. The aim of our study was to investigate if BsmI, TaqI, ApaI, FokI, and Tru9I, polymorphisms of VDR gene have an impact on MODY diabetes and its clinical aspects in a Tunisian population. A total of 95 patients and 153 controls were genotyped using PCR-RFLP. The comparison of the allelic and genotypic frequencies of the five polymorphisms between MODY subjects and control groups revealed the association of MODY diabetes with TaqI, Tru9I and BsmI polymorphisms and no significant differences were observed in the distributions for the ApaI and FokI polymorphisms. After stratification with biochemical and clinical parameters and TaqI, Tru9I and BsmI polymorphisms, we found an association between the three SNPs and different ...
Objective: To determine the prevalence and association of prenatal depression with socioeconomic, demographic and personal factors among pregnant women living in Kallar Syedan, Rawalpindi, Pakistan.Methods: Five hundred women in the... more
Objective: To determine the prevalence and association of prenatal depression with socioeconomic, demographic and personal factors among pregnant women living in Kallar Syedan, Rawalpindi, Pakistan.Methods: Five hundred women in the second and third trimester of pregnancy, living in Kallar Syedan, a rural area of district Rawalpindi Pakistan, were included in the study. Depression was assessed using “Patient health questionnaire” (PHQ9) in Urdu, with a cut-off score of 10. Multi-dimensional scale of perceived social support (MSPSS) was used to assess perceived social support. Life Events and Difficulties Schedule (LEDS) were used to measure stressful life events in past 1 year. Tool to assess intimate partner violence (IPV) was based on WHO Multi Country Study on “Women's Health and Domestic Violence against Women.”Results: Prevalence of prenatal depression was found to be 27%. Number of pregnancies was significantly associated with prenatal depression (p < 0.01). Women livin...
Patients with adrenal insufficiency have difficulties in fasting during the month of Ramadan with an increased risk of complications. Cortisol levels are unknown in these patients. The objective of this study was to assess the daily... more
Patients with adrenal insufficiency have difficulties in fasting during the month of Ramadan with an increased risk of complications. Cortisol levels are unknown in these patients. The objective of this study was to assess the daily cortisol profile in hydrocortisone-treated patients with secondary adrenal insufficiency (SAI) and healthy controls during a fasting day. A cross-sectional matched case-control study on 50 hydrocortisone-treated SAI patients and 69 controls who are used to fast. Clinical and therapeutic data were collected. Five salivary samples for cortisol measurement were collected throughout a fasting day of the third week of Ramadan 2019. Salivary cortisol levels were significantly higher on awakening, at midnight and before the predawn meal in patients compared with controls. The circadian cortisol rhythm was disrupted in patients. The area under the salivary cortisol level versus time curve (AUC) was lower than the 2.5th percentile of the controls in one patient (2.5%) and higher than the 97.5th percentile in 23 patients (59%) who were considered overtreated. Age ≥ 35 years was independently associated with overtreatment (adjusted odds ratio = 12.0; 95% CI (2.0–70.4); p = 0.006). Seven patients broke their fasting for a complication compared with no one of the controls (p = 0.001). No factor was associated with this risk. Salivary cortisol levels were high in fasting hydrocortisone-treated SAI patients with a disruption of the circadian rhythm.
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Rapid and accurate identification of pathogens involved in urinary tract infections helps to guide antimicrobial therapy. Chromogenic agars provide presumptive identification directly from primary isolation media. They have been intended... more
Rapid and accurate identification of pathogens involved in urinary tract infections helps to guide antimicrobial therapy. Chromogenic agars provide presumptive identification directly from primary isolation media. They have been intended to make the bacterial isolation and identification process easier and faster. Our study aimed to compare the performance and the cost of the CPS ID3® and the Uriselect4® chromogenic agars with the conventional method for the isolation and identification of urinary tract infections bacteria. We included 301 urinary samples in a prospective study conducted in May 2018 in the clinical laboratory of the National institute of nutrition and food technology of Tunis. Isolates from routine media were identified using API® system while isolates from chromogenic media were directly identified by colony color with reference to the manufacturer's recommendations. Chromogenic media yielded more pure positive cultures and allowed better isolation of Escherichia coli, Klebsiella pneumoniae, Citrobacter koseri, Morganella morganii and Streptococcus agalactiae. Sensitivity and specificity of the presumptive identification of most commonly isolated uropathogens were higher with the Uriselect4® medium than with the CPS ID3® medium. Chromogenic media yielded the identification of pathogenic organisms 24 hours sooner than the conventional method in approximately 63 % of cases with the CPS ID3® medium and in 77.7% of cases with the Uriselect4® medium. Chromogenic media allowed a much better isolation of bacteria commonly involved in urinary tract infections with a quick, easy and accurate presumptive identification especially with the Uriselect4® medium.
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The South Asian region, including Pakistan, reports one of the highest rates of perinatal depression. Effective task-shifting perinatal mental health interventions exist and are gaining attention of policy makers, as a potential solution... more
The South Asian region, including Pakistan, reports one of the highest rates of perinatal depression. Effective task-shifting perinatal mental health interventions exist and are gaining attention of policy makers, as a potential solution to bridge the existing treatment gap. However, no specific indicators are available to gauge the level of implementation for such interventions in the South Asian region. The Thinking Healthy Programme Peer-delivered (THPP) is a perinatal mental health intervention delivered, at scale, by peer volunteers (PVs). An effectiveness trial for THPP based on 570 depressed pregnant women was conducted in rural Rawalpindi, Pakistan. In addition, we also examined the implementation processes of THPP in order to develop an index to gauge implementation strength of this intervention. The key components of this index are based on four important intervention processes related to service provision which include; i) the competence of PVs, ii) supervisions attended by PVs and iii) number and iv) duration of THPP sessions. We attempt to inform an implementation strength index which best correlates with reduced perinatal depression and disability at 6 months post childbirth. Knowledge of such an implementation strength index for a task-shifted perinatal depression intervention carries implications for scale up strategies.
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Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in... more
Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the 18th patient in the reported data. The patient was referred to our hospital to explore a severe hypochromic and microcytic anemia. The laboratory evaluation including hematological and biochemical examination was performed in the proband and her parents. All exons of the transferrin gene were PCR amplified. The products were screened for mutations by direct sequencing. Based on laboratory and clinical findings, diagnosis of congenital atransferrinemia was confirmed. DNA sequencing revealed the presence of a novel homozygous deletion (c.293-63del) in the intron 13. This mutation is predicted to generate a higher score cryptic branch point leading to the production of an altered mRNA molecule. The second previously reported missense mutation p.Arg609Trp. Crystallographic structure analyzes demonstrate that the mutation would probably lead to significant conformational change not allowing the expression of transferrin protein. Current molecular characterization of this novel transferrin abnormality puts to the proof the variability in onset, first blood transfusion, and phenotypic expression in atransferrinemic patients.
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BACKGROUND The Thinking Healthy Programme (THP) is recommended to treat perinatal depression in resource-limited settings, but scale-up is hampered by a paucity of community health workers. THP was adapted for peer-delivery (THPP) and... more
BACKGROUND The Thinking Healthy Programme (THP) is recommended to treat perinatal depression in resource-limited settings, but scale-up is hampered by a paucity of community health workers. THP was adapted for peer-delivery (THPP) and evaluated in two randomized controlled trials in India and Pakistan. Our aim was to estimate the effectiveness of THPP on maternal outcomes across these two settings, and evaluate effect-modification by country and other pre-defined covariates. METHODS Participants were pregnant women aged≥18 years with depression (Patient Health Questionnaire (PHQ-9) score≥10), randomized to THPP plus enhanced usual care (EUC) or EUC-only. Primary outcomes were symptom severity and remission (PHQ-9 score<5) 6 months post-childbirth. Secondary outcomes included further measures of depression, disability and social support at 3 and 6 months post-childbirth. RESULTS Among 850 women (280 India; 570 Pakistan), 704 (83%) attended 6-month follow-up. Participants in the intervention arm had lower symptom severity (PHQ-9 score adjusted mean difference -0.78 (95% confidence interval -1.47,-0.09)) and higher odds of remission (adjusted odds ratio 1.35 (1.02,1.78)) versus EUC-only. There was a greater intervention effect on remission among women with short chronicity of depression, and those primiparous. There were beneficial intervention effects across multiple secondary outcomes. LIMITATIONS The trials were not powered to assess effect-modifications. 10-20% of participants were missing outcome data. CONCLUSIONS This pooled analysis demonstrates the effectiveness, acceptability and feasibility of THPP, which can be scaled-up within a stepped-care approach by engaging with the existing health care systems and the communities to address the treatment gap for perinatal depression in resource-limited settings.
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Background: Preoperative anxiety is challenging concept in preoperative patients. It could reduce by various methods; one of them is informed consent in which information is provided to patients regarding anesthesia and surgical... more
Background: Preoperative anxiety is challenging concept in preoperative patients. It could reduce by various methods; one of them is informed consent in which information is provided to patients regarding anesthesia and surgical procedure, it also helps patients to make autonomous decision. Objective: The aim this study was to identify the role of informed consent in preoperative anxiety, in surgical patients of both public and private tertiary care hospital Peshawar. Method: A quasi experimental study design was carried out among preoperative patients of surgical units. The sample of 65 participants was selected through convenient sampling technique. First, the preoperative anxiety was measured with valid adopted questionnaire APAIS. Second, the informed consent was explained to patients and after this again preoperative anxiety was measured to see the effect of informed consent on preoperative anxiety. Results: Among 65 participants 41 (63.1%) were males and 24 (36.9%) were female...
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Free thyroxine (FT4) quantification is continuing to be a concern. The purpose of the following study was to evaluate the analytical performance of Tosoh AIA900 based on a one-step technique and its comparison to Access 2 (two-step... more
Free thyroxine (FT4) quantification is continuing to be a concern. The purpose of the following study was to evaluate the analytical performance of Tosoh AIA900 based on a one-step technique and its comparison to Access 2 (two-step technique) over different clinical contexts (euthyroid, thyroid disorders, uncontrolled diabetes, renal failure and pregnancy). The protocol established by the French society of Clinical Biology was used to evaluate: imprecision, limit of detection, trueness, linearity, interferences and method comparisons. Within-run variation of 3.1%, 5.7% and 4.4% were found for the low, medium and high controls, respectively. Between-run was 5.8% for low control, 5.7% for medium control and 7.1% for high control. Common interferences did not affect one-step immunoassay FT4 results. The linearity was checked up to 86 pmol/L. The limit of detection was 5.5 pmol/L. The concordance correlation coefficient (CCC) showed a low agreement (0.6) between both methods. Bland-Altm...
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HbA is used for monitoring diabetic balance. In this paper we report an assessment of the analytical performances of Capillarys 2 Flex Piercing (C2FP) for HbA measurement using CE (Capillary Electrophoresis). CLSI (Clinical and Laboratory... more
HbA is used for monitoring diabetic balance. In this paper we report an assessment of the analytical performances of Capillarys 2 Flex Piercing (C2FP) for HbA measurement using CE (Capillary Electrophoresis). CLSI (Clinical and Laboratory Standard Institute) protocols are used for the evaluation of apparatus performances: precision, linearity, method comparison, trueness and common interferences. HbA CVs average in intra-assay was 1.6% between run imprecision CV ranged from 0.1 to 1.8%. The linearity was demonstrated between 4.7 and 15.0%. The comparison study revealed that Bland Altman plot mean difference was equal to -0.03 (CI 95% (-0.05 to -0.0003)) and Passing-Bablok regression intercept was -0.05, CI95%(-0.13 - -0.05); slope: 1.00, CI95%[1.00-1.01]. A strong correlation (r &amp;amp;gt; 0.99) was proved. No significant effects of hemoglobin variants were seen with CE on HbA measurement. No problem related to sample-to-sample carry over was noted. No interferences of LA and cHb were observed. CE allowed quantification of HbA even at low level of total hemoglobin (40 g/L) in contrast to HPLC. Furthermore, this analyzer offered the opportunity of quantifying the HbA simultaneously with HbA . This evaluation showed that C2FP is a convenient system for the control of diabetes and the detection of hemoglobinopathies.
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Background:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. The incidence depends essentially on the methods used for the assessment. In this respect, we attempted in this study to set cut-off... more
Background:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest enzymopathy worldwide. The incidence depends essentially on the methods used for the assessment. In this respect, we attempted in this study to set cut-off values of G6PD activity to discriminate among normal, heterozygous, and deficient individuals using the World Health Organization (WHO) classification and the receiver operating characteristics (ROC) curve analysis.Methods:Blood samples from 250 female and 302 male subjects were enrolled in this study. The G6PD activity was determined using a quantitative assay. The common G6PD mutations in Tunisia were determined using the amplification refractory mutation system (ARMS-PCR) method. The ROC curve was used to choice the best cut-off.Results:Normal G6PD values were 7.69±2.37, 7.86±2.39, and 7.51±2.35 U/g Hb for the entire, male, and female groups, respectively. Cut-off values for the total, male, and female were determined using the WHO classification a...
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The C/EBPE gene, located in 14q11.2, encodes for a B/zip-type transcription factor. The C/EBPɛ is involved in terminal differentiation and functional maturity of granulocyte progenitor cells and in cell apoptosis during myeloid... more
The C/EBPE gene, located in 14q11.2, encodes for a B/zip-type transcription factor. The C/EBPɛ is involved in terminal differentiation and functional maturity of granulocyte progenitor cells and in cell apoptosis during myeloid differentiation. A C/EBPE gene has recently been described as a candidate gene involved in clinical variability of β-thalassemia (β-thal). In this study, the C/EBPE gene was sequenced in 146 subjects divided into the severe type of β-thal major (β-TM) and moderate type of β-thal intermedia (β-TI), and a control group. The analysis identified the rs45496295 (C &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;gt; T) polymorphism in the heterozygous state in 73.9% β-TI patients, which was not the case in the β-TM patients or in the control group. Thus, the T allele is consequently associated with the β-TI group (p = 10(-3)). According to the Human Splicing Finder (version 3.0, Marseille, France), the presence of the rs45496295 polymorphism leads the creation of a new intronic exotic splicing enhancer (ESE) site. Moreover, the T allele of rs45496295 is associated with a lower transfusion regimen (p = 10(-3)) and a higher pretransfusion hemoglobin (Hb) rate (p = .006). The comparison of several factors concerning T allele carriers and non-carriers showed that the T allele does not act on the Hb F rate. The T allele of rs45496295, associated with moderate type of β-thal, seems to modify the C/EBPɛ action, thereby preventing the hemolysis.
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational... more
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy. More than 200 mutations in the G6PD gene have been described. In Tunisia, the A-African and the B-Mediterranean mutations predominate the mutational spectrum. The purpose of this study was to apply the amplification refractory mutation system (ARMS-PCR) to the identification of Gd A+, Gd A- and Gd B- variants in a cohort of deficient individuals and to establish a phenotype/genotype association. 90 subjects were screened for enzymatic deficiency by spectrophotometric assay. The molecular analyses were performed in a group of 50 unrelated patients. Of the 54 altered chromosomes examined, 60% had the Gd A- mutation, 18% showed the Gd B- mutation and in 20% of cases, no mutations have been identified. The ARMS-PCR showed complete concordance with the endonuclease cleavage reference method and agreed perfectly with previous Tunisian studies where Gd A- and Gd B- were the most encountered. Also, similarit...
Research Interests: Biology, Adolescent, Medicine, Biological Sciences, Humans, and 15 moreChild, Tunisia, Female, Male, Polymerase Chain Reaction, Genetic Association Studies, Young Adult, Middle Aged, Adult, Amino Acid Substitution Rates, DNA mutational analysis, Child preschool, Glucosephosphate dehydrogenase deficiency, Gene frequency, and Medical and Health Sciences
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ABSTRACT The contamination of agriculture soils with heavy metals is increasing due to both natural and anthropogenic activities. This has resulted in lowering the yield and quality of agriculture crops. The aim of the present... more
ABSTRACT The contamination of agriculture soils with heavy metals is increasing due to both natural and anthropogenic activities. This has resulted in lowering the yield and quality of agriculture crops. The aim of the present investigation was to determine the effect of Moringa oleifera (M. oleifera) aqueous leaf extract (MALE) on growth and Hg phytoextraction potential of maize cv. Azam under mercuric chloride (HgCl2)-induced stress. Soil was contaminated with different concentrations of HgCl2 (1 and 0.5 mg/kg). The MALE was applied at 5% and 2.5% as seed soaking prior to sowing of seeds in the pots. The M. oleifera leaf was a good source of macronutrients (Na, K, Ca and Mg) and micronutrients (Fe, Zn, Mn, Co and Ni) as well as natural phenolics. The induced HgCl2 stress significantly reduced seed germination (%), shoot dry weight, root dry weight, chlorophyll content and carotenoids content. The HgCl2-induced stress was associated with accumulation of phenolics and Hg in roots. The accumulation of Hg in roots was significantly correlated with phenolics content (r = .8007, p = .000). The exogenous application of MALE significantly ameliorated adverse effects of HgCl2 stress on maize plants. The accumulation of Hg in roots was significantly increased by MALE. It is inferred from findings of the present investigation that MALE served as bioregulator and can be applied to reduce adverse effects of HgCl2 on maize. Moreover, MALE can enhance the Hg phytoremediation potential of maize.
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β-Thalassemia is one of the most prevalent worldwide autosomal recessive disorders. It presents a great molecular heterogeneity resulting from more than 200 causative mutations in the β-globin gene. In Tunisia, β-thalassemia represents... more
β-Thalassemia is one of the most prevalent worldwide autosomal recessive disorders. It presents a great molecular heterogeneity resulting from more than 200 causative mutations in the β-globin gene. In Tunisia, β-thalassemia represents the most prevalent monogenic hemoglobin disorder with 2.21% of carriers. Efficient and reliable mutation-screening methods are essential in order to establish appropriate prevention programs for at risk couples. The aim of the present study is to develop an efficient method based on the denaturing high-performance liquid chromatography (DHPLC) in which the whole β-globin gene (HBB) is screened for mutations covering about 90% of the spectrum. We have performed the validation of a DHPLC assay for direct genotyping of 11 known β-thalassemia mutations in the Tunisian population. DHPLC assay was established based on the analysis of 62 archival β-thalassemia samples previously genotyped then validated with full concordance on 50 tests with blind randomized...
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To study the disturbances of biochemical parameters which make it possible to evaluate the nutritional state during the cystic fibrosis. Prospective study about 13 cases hospitalized over a 7 months period, whose age varies between 2... more
To study the disturbances of biochemical parameters which make it possible to evaluate the nutritional state during the cystic fibrosis. Prospective study about 13 cases hospitalized over a 7 months period, whose age varies between 2 months and 12 years and addressed for a suspicion of cystic fibrosis. For all the patients we made a clinical collection of the data and a biochemical study. Hypoprotidemia (protidemia < 60 g/l) was noted in 6 cases. Three cases presented a hypocalcaemia (calcemia < 2.20 mmol/l). A hypomagnesaemia (magnesemia < 0.70 mmol/L) was observed in 2 cases. The totality of the patients presented zinc concentrations lower than the normal value. Iron concentrations lower than the normal (11- 24 mmol/l) was noted in 5 cases. Four patients (4/13) presented a concentration of iron between 11.2 and 20 mmol/l, whereas a high concentration (32.3 mmol/l) was noted in only one case (7.7%). The study of the biochemical parameters allowed to evaluate the variation ...
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Microbial contamination of herbal materials can cause the spoilage of pharmaceuticals to a great extent. Evaluation of microbial loads of plant materials to assure quality is therefore significant investigation. In the present study,... more
Microbial contamination of herbal materials can cause the spoilage of pharmaceuticals to a great extent. Evaluation of microbial loads of plant materials to assure quality is therefore significant investigation. In the present study, eight commercially available medicinal plants were evaluated for bacterial and fungal contamination. The results of present study revealed very high microbial loads and also the presence of some pathogenic bacteria in herbal materials. The bacterial strains identified in the investigation were Staphylococcus epidermydis, E.coli, Pseudomonas, Enterobactar aerogenosa, Staphylococcus aureus and Klebsiella. The fungal isolates were Rhizopus oryzae, Aspergillus Niger, Aspergillus flavus, Aspergillus fumigates, Cladosporium herbarum, Mucor hiemalis and Penicillium chrysogenum. It was concluded that commercially available plants in Mansehra may be at high risk of microbial contamination and not suitable for medicinal use.
To study the disturbances of biochemical parameters which make it possible to evaluate the nutritional state during the cystic fibrosis. Prospective study about 13 cases hospitalized over a 7 months period, whose age varies between 2... more
To study the disturbances of biochemical parameters which make it possible to evaluate the nutritional state during the cystic fibrosis. Prospective study about 13 cases hospitalized over a 7 months period, whose age varies between 2 months and 12 years and addressed for a suspicion of cystic fibrosis. For all the patients we made a clinical collection of the data and a biochemical study. Hypoprotidemia (protidemia < 60 g/l) was noted in 6 cases. Three cases presented a hypocalcaemia (calcemia < 2.20 mmol/l). A hypomagnesaemia (magnesemia < 0.70 mmol/L) was observed in 2 cases. The totality of the patients presented zinc concentrations lower than the normal value. Iron concentrations lower than the normal (11- 24 mmol/l) was noted in 5 cases. Four patients (4/13) presented a concentration of iron between 11.2 and 20 mmol/l, whereas a high concentration (32.3 mmol/l) was noted in only one case (7.7%). The study of the biochemical parameters allowed to evaluate the variation ...
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The most common inherited haemoglobin disorders encountered in Tunisia are β-thalassemia and sickle cell disease, which result from mutations in the β-globin gene. Few studies focused on δ-globin gene variations responsible for... more
The most common inherited haemoglobin disorders encountered in Tunisia are β-thalassemia and sickle cell disease, which result from mutations in the β-globin gene. Few studies focused on δ-globin gene variations responsible for δ-thalassemia or HbA2 variants. HbA2' [δ16 (A13) Gly→Arg (GGC→CGC)] is a δ-chain variant that has been identified in several populations of African origin. We report herein for the first time the description of HbA2' in the Tunisian population. Identification of HbA2' in the studied family was carried out by high-performance liquid chromatography and confirmed by sequencing analyses of the whole δ-globin gene. Haplotypes of the β-globin gene cluster were constructed by mapping the restriction sites using polymerase chain reaction followed by enzymatic digestion. Compound heterozygosity of HbA2' with HbO-Arab was identified in the proband. The mother and two other siblings showed heterozygous HbA2' whereas the father showed heterozygous HbO...
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Cystic fibrosis (CF) is a common and serious condition with autosomal recessive inheritance. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The frequencies of mutations vary according to... more
Cystic fibrosis (CF) is a common and serious condition with autosomal recessive inheritance. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The frequencies of mutations vary according to the ethnic origin of populations. We describe in this study a patient with cystic fibrosis. She was homozygous for a new nonsense mutation identified for the first time in Tunisia: W19X, which expected to cause significant morbidity. This mutation appears to be specific to Tunisian population, although, it has identified only in CF Tunisian patients. The information provided by our study contributes to defining the molecular spectrum of CF in Tunisia, to improve genetic testing and prenatal diagnosis.
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In this study we report the fortuitous description of hemoglobin (Hb) Hope in a Tunisian athlete. This Hb is one of hemoglobin variants that show a lower stability and oxygen affinity that is beneficial to tissue oxygen delivery. Hb Hope... more
In this study we report the fortuitous description of hemoglobin (Hb) Hope in a Tunisian athlete. This Hb is one of hemoglobin variants that show a lower stability and oxygen affinity that is beneficial to tissue oxygen delivery. Hb Hope was isolated by automated high performance liquid chromatography and was unequivocally found to be Hb Hope using DNA-based methods: polymerase chain reaction, denaturing gradient gel electrophoresis, direct DNA sequencing. Restriction haplotype showed that this Hb was supported by the Mediterranean haplotype I. Hb Hope was identified at first in a black African-American family and later in several other black and non black ethnic groups. All these descriptions raise the question of the Hb Hope origin. Recently, Hb Hope was reported in Thai in association with the same Mediterranean haplotype I. This favors that Tunisian and Thai Hb Hope would share a common Mediterranean origin, thus suggesting the possibility of a Mediterranean gene flow. On anothe...
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Iron deficiency (ID) is the most common nutritional deficiency worldwide especially among young children, women in pregnancy and breastfeeding. This study was undertaken to assess the prevalence of ID in 1288 pupil ranging in age from 11... more
Iron deficiency (ID) is the most common nutritional deficiency worldwide especially among young children, women in pregnancy and breastfeeding. This study was undertaken to assess the prevalence of ID in 1288 pupil ranging in age from 11 to 14 years. Haemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), serum iron (Fe) serum transferrin (Trf), serum ferritin (Ft) and an inflammtory proteic profil (IPP) were measured. The IPP combines the analysis of protein variations: protein results are converted in percent of normal values referenced for the technique used. It has been suggested that on the protein profile, an increase in serum transferrin level compared to a normal serum albumin level (DAT: difference albumin-transferrin), appears early in the course of ID. Iron deficiency was defined by a low serum ferritin (< 15 ng/mL) and/or a pathologic DAT (> 28%). Approximately, 33.8% of children had Ft < 15 ng/mL and 12,8% had DAT > 28% while ferritin val...
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The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 showing linkage with type 2... more
The protein tyrosine phosphatase-1B, a negative regulator for insulin and leptin signalling, potentially modulates glucose and energy homeostasis. PTP1B is encoded by the PTPN1 gene located on chromosome 20q13 showing linkage with type 2 diabetes (T2D) in several populations. PTPN1 gene variants have been inconsistently associated with T2D, and the aim of our study was to investigate the effect of PTPN1 genetic variations on the risk of T2D, obesity and on the variability of metabolic phenotypes in the French population. Fourteen single nucleotide polymorphisms (SNPs) spanning the PTPN1 locus were selected from previous association reports and from HapMap linkage disequilibrium data. SNPs were evaluated for association with T2D in two case-control groups with 1227 cases and 1047 controls. Association with moderate and severe obesity was also tested in a case-control study design. Association with metabolic traits was evaluated in 736 normoglycaemic, non-obese subjects from a general...
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Cystic fibrosis is the most frequent autosomal recessive genetic disease in North European population. This pathology seems to not be rare in Tunisia. On another hand, development of molecular biology techniques has largely contributed to... more
Cystic fibrosis is the most frequent autosomal recessive genetic disease in North European population. This pathology seems to not be rare in Tunisia. On another hand, development of molecular biology techniques has largely contributed to implement the study of the different mutations in the CFTR gene where over 1,300 mutations were reported. Herein, we describe the strategy used to detect molecular defects responsible of cystic fibrosis on 390 children (383 families) in Tunisian population. Several techniques were performed for genotype diagnosis: DNA extraction was from peripheral blood. Polymerase chain reaction (PCR) and polyacylamide gel electrophoresis, and reverse dot blot procedures were used to detect known point mutations. Denaturant gradient gel electrophoresis (DGGE) were used in a next step searching for the unknown point mutations that are later identified by automated sequencing on ABIprism 310. This strategy allowed us to detect 17 different mutations located on the ...
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The present study attempts to delineate the spectrum of beta-thalassemia (thal) mutations in Tunisia by studying a large population from different parts of the country. A total of 285 unrelated subjects, 190 of whom had beta-thal major,... more
The present study attempts to delineate the spectrum of beta-thalassemia (thal) mutations in Tunisia by studying a large population from different parts of the country. A total of 285 unrelated subjects, 190 of whom had beta-thal major, 72 with Hb S/beta-thal, one with Hb C/beta-thal, one with Hb O-Arab/beta-thal and 21 beta-thal carriers, were studied. The molecular defects were detected in 97.7% of the beta-thalassemic chromosomes (n=475). Nineteen different beta-thalassemic alleles were identified. Two mutations, namely codon 39 (C-->T) and IVS-I-110 (G-->A) accounted for 70.0% of the studied chromosomes, followed by IVS-I-1 (G-->A) (4.5%). Five other mutations, frameshift codon (FSC) 44 (-C), codon 30 (G-->C), IVS-I-2 (T-->G), IVS-II-745 (C-->G), and FSC 6 (-A), are not uncommon in this population, while the remaining 11 mutations, IVS-I-5 (G-->A), -30 (T-->A), codons 25/26 (+T), IVS-I-6 (T-->C), FSC 5 (-CT), IVS-II-848 (C-->A), FSC 8 (-AA), -87 (C-...
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A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG) screening). We have also done an enzymatic determination of alpha-L-iduronidase... more
A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG) screening). We have also done an enzymatic determination of alpha-L-iduronidase activity (IDUA). The most common mutation (p.Gln 70 X, p.Trp 402X and p.Pro 533 Arg) were researched by an enzymatic restriction and sequencing of the IDUA gene. Enzymatic and urinary diagnostics suggested a MPS I phenotype. The patient investigated had the mutation p.Pro 533 Arg in the homozygous status, whereas his parents were heterozygous for this mutation.
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Research Interests:
Unleavened flat bread (chapatti) was prepared from wheat (Tritium aestivum) and maize (Zea mays) composite flour. The wheat flours from mill and grindstone were collected from local market and blended with maize flour in 100:0, 90:10,... more
Unleavened flat bread (chapatti) was prepared from wheat (Tritium aestivum) and maize (Zea mays) composite flour. The wheat flours from mill and grindstone were collected from local market and blended with maize flour in 100:0, 90:10, 80:20 proportions. Technological and rheological studies revealed that gluten, falling number and water absorption values decreased with increased maize proportion. Increased dough development time
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Unleavened flat bread (chapatti) was prepared from wheat (Tritium aestivum) and maize (Zea mays) composite flour. The wheat flours from mill and grindstone were collected from local market and blended with maize flour in 100:0, 90:10,... more
Unleavened flat bread (chapatti) was prepared from wheat (Tritium aestivum) and maize (Zea mays) composite flour. The wheat flours from mill and grindstone were collected from local market and blended with maize flour in 100:0, 90:10, 80:20 proportions. Technological and rheological studies revealed that gluten, falling number and water absorption values decreased with increased maize proportion. Increased dough development time by addition of 20% maize flour for either flour types was observed. Decrease in dough stability was observed by increased maize proportion in grindstone flour but in mill flour decrease with 10% maize and increase with 20% maize is noted. Overall Farinographic quality was highest in 20% blend of maize in grindstone flour. Chapatties were prepared and subjected to organoleptic tests by a panel of trained judges and 20% blend get maximum acceptability.
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The apolipoprotein E (APOE) is a well-established risk factor for late-onset Alzheimer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (AD). Several studies have attempted to... more
The apolipoprotein E (APOE) is a well-established risk factor for late-onset Alzheimer&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s disease (AD). Several studies have attempted to confirm the association between the polymorphism located at position -491 in the transcriptional regulatory region of the APOE gene and AD. We examined in 85 AD patients and 90 control subjects of a Tunisian population the potential involvement of this polymorphism as a risk factor for AD, either through an independent effect or through interaction with the existing APOE ε4 allele risk. The T allele frequency was significantly higher in the AD patients group (45.3 %) than in the controls group (32.78 %) and may possibly constitute a significant risk factor for AD. The APOE ε4 allele did not influence the distribution of the -491 polymorphism after stratification.
Research Interests:
Research Interests:
Hereditary persistence of fetal hemoglobin (HPFH) is a group of genetically heterogeneous conditions characterized by continued expression of fetal hemoglobin (HbF) in adulthood. HPFH may be due not only to point mutations or large... more
Hereditary persistence of fetal hemoglobin (HPFH) is a group of genetically heterogeneous conditions characterized by continued expression of fetal hemoglobin (HbF) in adulthood. HPFH may be due not only to point mutations or large deletions in different regions of the cluster β globin, but also to variations in several polymorphic sequences in this cluster. The objective of this work was to evaluate effects of polymorphic markers within cluster β globin on HbF expression. For the purpose, we have explored in this first study of Tunisian HPFH four polymorphic regions of β globin cluster in 68 healthy adults (34 subjects with high levels of HbF and 34 with normal HbF levels). Our results showed that the increase of HbF levels is associated with the -158 Gγ C → T polymorphism, the TG(18)CG(2)CACG, TC TG(9)AG TG(2)CG(2) and TG(11)CG(4) configurations in the second intron of Gγ gene and the -540 β (AT)(6)T(9) and (AT)(7)T(8) repeated sequences. Among the 34 subjects with raised levels of HbF, approximately 97% carried one or more of these six markers. This study suggests that there is a significant association between certain polymorphic configurations of the β globin cluster and the increase of HbF levels in healthy individuals.
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Iron deficiency (ID) is the most common nutritional deficiency worldwide especially among young children, women in pregnancy and breastfeeding. This study was undertaken to assess the prevalence of ID in 1288 pupil ranging in age from 11... more
Iron deficiency (ID) is the most common nutritional deficiency worldwide especially among young children, women in pregnancy and breastfeeding. This study was undertaken to assess the prevalence of ID in 1288 pupil ranging in age from 11 to 14 years. Haemoglobin (Hb), mean corpuscular volume (MCV), mean corpuscular Hb (MCH), serum iron (Fe) serum transferrin (Trf), serum ferritin (Ft) and an inflammtory proteic profil (IPP) were measured. The IPP combines the analysis of protein variations: protein results are converted in percent of normal values referenced for the technique used. It has been suggested that on the protein profile, an increase in serum transferrin level compared to a normal serum albumin level (DAT: difference albumin-transferrin), appears early in the course of ID. Iron deficiency was defined by a low serum ferritin (&amp;amp;lt; 15 ng/mL) and/or a pathologic DAT (&amp;amp;gt; 28%). Approximately, 33.8% of children had Ft &amp;amp;lt; 15 ng/mL and 12,8% had DAT &amp;amp;gt; 28% while ferritin values were in the normal range. Diagnosis performance (sensitivity, specificity and diagnosis efficacy) of ferritin and DAT were compared to the performance of high serum transferrin receptor (sTfR) values in 2 populations presenting or not a biological inflammation. Only the diagnosis efficacy of DAT was constant in both situations. In conclusion, the serum ferritin concentration is the first indicator of body storage iron identifying ID, however normal or elevated values of ferritin may be difficult to interpret particulary in the presence of inflammation. sTfR and DAT values are thus reliable indicators of ID in such circumstances.