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1.
Andrologia ; 54(7): 1631-1642, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35396733

RESUMO

Over the past decades, an increase of male infertility through the decrease of sperm count has been noted. It has been suggested that environmental factors and lifestyle could a negative impact over sperm quality. Among these factors, the consumption of foods high in fat, which leads to overweight and obesity, can negatively influence fertility. The present study was designed to highlight the protective effect of Kefir, natural probiotic, against the decline in sperm quality related to fat high diet. Thirty adult rats were divided into four groups: Control (1 ml/100 g of body weight (bw) of semi-shimmed cow milk), KM (1 ml/100 g bw of Kefir milk), HFD (1 ml/100 g bw of semi-shimmed cow milk + high-fat diet) and KM/HFD (1 ml/100 g bw Kefir milk + high-fat diet). After 60 days of treatment, sperm quality, biochemical assays of lipids profil, blood cell count and histological examination in testis were assessed. The results described an improved of sperm density (64.28 106  ml vs 54.14 106  ml), viability (70.50% vs 55.33%), mobility (65.40% vs 63.60%) and morphological abnormalities (52% vs 25%) in the KM/HFD group compared to HFD group. In the same group, the lipid profil (Triglycerides (128.39 mg/dl vs 102.85 mg/dl), C-LDL (13.65 mg/dl vs 15.32 mg/dl) and C-HDL (23.21 mg/dl vs 19.15 mg/dl)) was corrected compared to HFD group. The histological observation of testis revealed a normal spermatogenesis compared to seminiferous tubules of HFD group, which showed a serious disruption and damage of testicular epithelium exerted by the high-fat diet. These findings corroborated the previous beneficial effect of Kefir and brought new insights into its beneficial effect against deteriorated spermatogenesis in obese adult rats.


Assuntos
Dieta Hiperlipídica , Kefir , Animais , Peso Corporal , Bovinos , Dieta Hiperlipídica/efeitos adversos , Feminino , Masculino , Leite , Obesidade , Ratos , Sêmen , Espermatozoides
2.
Mol Biol Rep ; 48(8): 5923-5933, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34341901

RESUMO

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, ß-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 University Protein Stability Analysis Tool) was used for the prediction of protein stability changes upon missense mutations and mutants were modeled via DeepView-SwissPdbViewer and POV-Ray softwares for molecular dynamics simulation studies. RESULTS: We identified four mutations: HbA2-Yialousa described for the first time in Tunisia ( in 72.72% of cases) and 3 mutations reported for the first time in the world: (i) c.442 T > C Stop147Arg ext 15aa-stop observed in 18.18% of cases, (ii) c.187 G > C (Ala62Pro) noted in 4.54% of cases and (iii) c.93-1G > C found in 4.54% of cases. CONCLUSION: Our data provide genetic basis that would be especially useful in screening for beta-thalassemia trait during delta-beta thalassemia associations.


Assuntos
Globinas delta/genética , Talassemia delta/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Sequência de Bases/genética , Feminino , Frequência do Gene/genética , Hemoglobina A2/genética , Hemoglobinas/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Análise de Sequência de DNA/métodos , Tunísia/epidemiologia , Globinas beta/genética , Talassemia beta/genética , Globinas delta/metabolismo , Talassemia delta/metabolismo
3.
Biol Res Nurs ; 23(4): 608-618, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33827288

RESUMO

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 parameters such as age of diagnosis, therapy, hsCRP and HDL-C levels. Our results revealed that TaqI, Tru9I and BsmI polymorphisms may be more related to the progression of MODY diabetes. The possible role of vitamin D in the pathogenesis of MODY is far from being completely understood. Further knowledge on this issue may identify new candidate targets in the treatment and prevention of the disease. Our findings suggest that the TaqI, Tru9I and BsmI polymorphisms may be more related to the progression of MODY diabetes.


Assuntos
Diabetes Mellitus Tipo 2 , Receptores de Calcitriol , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Receptores de Calcitriol/genética
4.
Eur J Med Genet ; 63(5): 103874, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32028041

RESUMO

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.


Assuntos
Erros Inatos do Metabolismo dos Metais/genética , Mutação , Sítios de Splice de RNA , Transferrina/deficiência , Transferrina/genética , Feminino , Homozigoto , Humanos , Lactente , Erros Inatos do Metabolismo dos Metais/patologia , Domínios Proteicos , Transferrina/química , Transferrina/metabolismo
5.
Ann Biol Clin (Paris) ; 78(1): 47-53, 2020 02 01.
Artigo em Francês | MEDLINE | ID: mdl-31974073

RESUMO

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.


Assuntos
Bactérias/isolamento & purificação , Infecções Bacterianas/microbiologia , Técnicas Bacteriológicas/métodos , Compostos Cromogênicos/farmacologia , Meios de Cultura/farmacologia , Infecções Urinárias/microbiologia , Ágar/química , Antibacterianos/farmacologia , Bactérias/classificação , Infecções Bacterianas/diagnóstico , Técnicas Bacteriológicas/normas , Compostos Cromogênicos/química , Meios de Cultura/química , Testes Diagnósticos de Rotina/métodos , Testes Diagnósticos de Rotina/normas , Feminino , Humanos , Masculino , Testes de Sensibilidade Microbiana , Sensibilidade e Especificidade , Urinálise/métodos , Urinálise/normas , Infecções Urinárias/diagnóstico
6.
J Pharm Biomed Anal ; 160: 187-194, 2018 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-30098489

RESUMO

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-Altman plot revealed that AIA 900 one-step immunoassay technique provides a significant higher values ((+2.8 ±â€¯2.7 pmol/L;p < 0.0001). The Passing-Bablok regression demonstrated both proportional and systematic differences in comparison to Access 2. The lowest association was noted in subjects with impaired renal function (CCC = 0.27). At the time of the study, the results of on-step immunoassay are not directly comparable with Access 2.


Assuntos
Estudos de Avaliação como Assunto , Fluorometria/métodos , Imunoensaio/métodos , Tiroxina/análise , Diabetes Mellitus/sangue , Feminino , Fluorometria/instrumentação , Fluorometria/estatística & dados numéricos , Humanos , Imunoensaio/instrumentação , Imunoensaio/normas , Limite de Detecção , Masculino , Gravidez/sangue , Insuficiência Renal/sangue , Doenças da Glândula Tireoide/sangue , Tiroxina/sangue
7.
Electrophoresis ; 38(17): 2210-2218, 2017 09.
Artigo em Inglês | MEDLINE | ID: mdl-28543614

RESUMO

HbA1c is used for monitoring diabetic balance. In this paper we report an assessment of the analytical performances of Capillarys 2 Flex Piercing (C2FP) for HbA1c 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. HbA1c 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 > 0.99) was proved. No significant effects of hemoglobin variants were seen with CE on HbA1c measurement. No problem related to sample-to-sample carry over was noted. No interferences of LA1c and cHb were observed. CE allowed quantification of HbA1c even at low level of total hemoglobin (40 g/L) in contrast to HPLC. Furthermore, this analyzer offered the opportunity of quantifying the HbA2 simultaneously with HbA1c . This evaluation showed that C2FP is a convenient system for the control of diabetes and the detection of hemoglobinopathies.


Assuntos
Eletroforese Capilar/métodos , Eletroforese Capilar/normas , Hemoglobinas Glicadas/análise , Diabetes Mellitus/sangue , Diabetes Mellitus/metabolismo , Humanos , Modelos Lineares , Reprodutibilidade dos Testes , Tunísia
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