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1.
Hosp Pharm ; 58(4): 357-362, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37360199

RESUMEN

Dipeptidyl peptidase-4 inhibitors (DPP-4i), or gliptins, are a widely used glucose-lowering agents. A growing amount of evidence pointed to a possible role of DPP-4i in the induction of bullous pemphigoid (BP), which is an auto-immune skin blistering disease that mainly affects the elderly. In this article we discuss a case of DPP-4i associated BP and we provide an updated review of the current knowledge regarding this emerging entity. Use of DPP-4i, particularly vildagliptin, was found to significantly increase the risk of BP. BP180 would be in the center of the aberrant immune response. DPP-4i induced BP is thought to be associated with male gender, mucosal involvement, and milder inflammatory phenotype especially in Asian population. Generally, patients may not remit fully after DPP-4i withdrawal only and require either topical or systemic glucocorticoid courses.

2.
J Med Internet Res ; 24(12): e41042, 2022 12 21.
Artículo en Inglés | MEDLINE | ID: mdl-36542427

RESUMEN

BACKGROUND: The introduction of new medical technologies such as sensors has accelerated the process of collecting patient data for relevant clinical decisions, which has led to the introduction of a new technology known as digital biomarkers. OBJECTIVE: This study aims to assess the methodological quality and quality of evidence from meta-analyses of digital biomarker-based interventions. METHODS: This study follows the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guideline for reporting systematic reviews, including original English publications of systematic reviews reporting meta-analyses of clinical outcomes (efficacy and safety endpoints) of digital biomarker-based interventions compared with alternative interventions without digital biomarkers. Imaging or other technologies that do not measure objective physiological or behavioral data were excluded from this study. A literature search of PubMed and the Cochrane Library was conducted, limited to 2019-2020. The quality of the methodology and evidence synthesis of the meta-analyses were assessed using AMSTAR-2 (A Measurement Tool to Assess Systematic Reviews 2) and GRADE (Grading of Recommendations, Assessment, Development, and Evaluations), respectively. This study was funded by the National Research, Development and Innovation Fund of Hungary. RESULTS: A total of 25 studies with 91 reported outcomes were included in the final analysis; 1 (4%), 1 (4%), and 23 (92%) studies had high, low, and critically low methodologic quality, respectively. As many as 6 clinical outcomes (7%) had high-quality evidence and 80 outcomes (88%) had moderate-quality evidence; 5 outcomes (5%) were rated with a low level of certainty, mainly due to risk of bias (85/91, 93%), inconsistency (27/91, 30%), and imprecision (27/91, 30%). There is high-quality evidence of improvements in mortality, transplant risk, cardiac arrhythmia detection, and stroke incidence with cardiac devices, albeit with low reporting quality. High-quality reviews of pedometers reported moderate-quality evidence, including effects on physical activity and BMI. No reports with high-quality evidence and high methodological quality were found. CONCLUSIONS: Researchers in this field should consider the AMSTAR-2 criteria and GRADE to produce high-quality studies in the future. In addition, patients, clinicians, and policymakers are advised to consider the results of this study before making clinical decisions regarding digital biomarkers to be informed of the degree of certainty of the various interventions investigated in this study. The results of this study should be considered with its limitations, such as the narrow time frame. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.2196/28204.


Asunto(s)
Biomarcadores , Tecnología , Humanos , Sesgo , Hungría , Revisiones Sistemáticas como Asunto
3.
Sensors (Basel) ; 22(1)2021 Dec 31.
Artículo en Inglés | MEDLINE | ID: mdl-35009838

RESUMEN

Wireless Sensor Networks (WSNs) are prone to highly constrained resources, as a result ensuring the proper functioning of the network is a requirement. Therefore, an effective WSN management system has to be integrated for the network efficiency. Our objective is to model, design, and propose a homogeneous WSN hybrid architecture. This work features a dedicated power utilization optimization strategy specifically for WSNs application. It is entitled Hybrid Energy-Efficient Power manager Scheduling (HEEPS). The pillars of this strategy are based on the one hand on time-out Dynamic Power Management (DPM) Intertask and on the other hand on Dynamic Voltage and Frequency Scaling (DVFS). All tasks are scheduled under Global Earliest Deadline First (GEDF) with new scheduling tests to overcome the Dhall effect. To minimize the energy consumption, the HEEPS predicts, defines and models the behavior adapted to each sensor node, as well as the associated energy management mechanism. HEEPS's performance evaluation and analysis are performed using the STORM simulator. A comparison to the results obtained with the various state of the art approaches is presented. Results show that the power manager proposed effectively schedules tasks to use dynamically the available energy estimated gain up to 50%.

4.
J Pediatr Hematol Oncol ; 42(6): e499-e502, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-30870388

RESUMEN

BACKGROUND: Typically, patients with Acid Sphingomyelinase Deficiency (ASMD) because of p.Arg610del mutation, have mild phenotype with normal linear growth. OBSERVATION: We reported the case of 2 Tunisian brothers who have been referred for splenomegaly, polyadenopathies, pubertal, and growth delay. Molecular testing of SMPD1 gene revealed the presence of a homozygous p.Arg610del mutation. Lysosphingomyelin and its isoform-509 were both increased confirming ASMD for both cases. Growth hormone deficiency was highly suspected but growth hormone response after stimulating tests was acceptable for both patients. CONCLUSIONS: There is no correlation between phenotype-genotype in case of p.Arg610del mutation that could be associated to a severe delay of growth.


Asunto(s)
Discapacidades del Desarrollo/patología , Homocigoto , Mutación , Enfermedades de Niemann-Pick/complicaciones , Esfingomielina Fosfodiesterasa/deficiencia , Esfingomielina Fosfodiesterasa/genética , Adolescente , Adulto , Discapacidades del Desarrollo/etiología , Humanos , Masculino , Enfermedades de Niemann-Pick/genética , Enfermedades de Niemann-Pick/patología , Fenotipo , Pronóstico , Hermanos , Adulto Joven
5.
J Clin Lab Anal ; 34(2): e23051, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31617239

RESUMEN

BACKGROUND: Oxidative stress is associated with several autoimmune disorders and oxidative modification of proteins that may result in autoimmune response. This study aims to evaluate the catalase (CAT) activity and the autoimmune response against the native CAT and the oxidatively modified enzyme in patients with Graves' disease (GD) and healthy controls in a comparative way. METHODS: The CAT activity was evaluated via spectrophotometric method. Using enzyme-linked immunosorbent assay, the reactivities of autoantibody toward native, malondialdehyde (MDA) and hydrogen peroxide (H2 O2 ) modified CAT were evaluated in plasmas of patients and controls. RESULTS: Reduced CAT activity was found in patients compared with controls (P < .05). It was proved that levels of IgG antibodies against MDA-modified CAT were higher than against unmodified ones (P < .001). No changes were found for the reactivities to H2 O2 -modified CAT. Positive correlation was found between the reactivity to MDA-modified CAT and the triiodothyronine level (P < .001, r = .6). CONCLUSION: Our findings incriminate the MDA in the autoantibodies reactivity to oxidatively modified CAT leading to a disturbed oxidative profile and/or the progression of GD pathology.


Asunto(s)
Catalasa/sangre , Enfermedad de Graves/inmunología , Estrés Oxidativo/inmunología , Adulto , Autoanticuerpos , Estudios de Casos y Controles , Catalasa/química , Catalasa/inmunología , Femenino , Enfermedad de Graves/sangre , Humanos , Peróxido de Hidrógeno/química , Masculino , Malondialdehído/química , Persona de Mediana Edad
6.
Sensors (Basel) ; 20(10)2020 05 12.
Artículo en Inglés | MEDLINE | ID: mdl-32408642

RESUMEN

Internet of things (IoT) for precision agriculture or Smart Farming (SF) is an emerging area of application. It consists essentially of deploying wireless networks of IP-enabled sensor nodes in a partitioned farmland area. When the surface, diversity, and complexity of the farm increases, the number of sensing nodes increases, generating heavy exchange of data and messages, and thus leading to network congestion, radio interference, and high energy consumption. In this work, we propose a novel routing algorithm extending the well known IPv6 Routing Protocol for Low power and Lossy Networks (RPL). It is referred to as the Partition Aware-RPL (PA-RPL). that improves the standard IoT routing algorithm (i.e., RPL). In contrast to RPL, the proposed technique builds a routing topology enabling efficient in-network data aggregation, hence dramatically reducing data traffic through the network. Performance analysis of a typical/realistic precision agriculture case, considering the potato pest prevention from the well-known late blight disease, shows that PA-RPL improves energy saving up to 40 % , compared to standard RPL.


Asunto(s)
Agricultura/métodos , Redes de Comunicación de Computadores , Conservación de los Recursos Energéticos , Internet de las Cosas , Tecnología Inalámbrica , Granjas
7.
J Assist Reprod Genet ; 36(6): 1273-1280, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-31073722

RESUMEN

PURPOSE: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disorder mostly characterized by gonadotropins release and/or action deficiencies. Both isolated (idiopathic hypogonadotropic hypogonadism) and syndromic (Kallmann) forms are identified depending on the olfactory ability. Clinical and genetic heterogeneities of CHH have been widely explored, thus improving our understanding of the disease's pathophysiology. This work aims to (1) provide a detailed clinical and hormonal description of normosmic CHH patients and (2) identify the mutation linked to the studied phenotype. PARTICIPANTS AND METHODS: We investigated three affected patients with normosmic CHH, belonging to a consanguineous Tunisian family. Patients underwent an insulin-induced hypoglycemia test. We performed whole exome sequencing to identify the causal mutation. RESULTS: At first diagnosis, a total gonadotropic deficiency was identified in all patients. The insulin-induced hypoglycemia test has also revealed a reduced cortisol secretion and complete growth hormone deficiency. At 20.8 years, one female exhibited a spontaneous recovery of the hypothalamic-pituitary-adrenal axis function, unlike her affected siblings who still depend on corticosteroid replacement therapy. Herein, we identified a novel homozygous nonstop mutation (c.1195T>C) in KISS1R gene in all affected subjects. This mutation led to the substitution of the physiologic stop codon by an arginine (p.X399R). CONCLUSIONS: Our study highlights the importance of the KISS1R signaling, in gonadotropin-releasing hormone neurons, in the control of reproductive function. Additionally, our data suggests a complex central and peripheral metabolic control of puberty, through the hypothalamic KISS1R signaling. We suggest a mutual link between the hypothalamic-pituitary-gonadal, -adrenal, and -somatotropic axes.


Asunto(s)
Hipogonadismo/genética , Sistema Hipotálamo-Hipofisario/metabolismo , Receptores de Kisspeptina-1/genética , Reproducción/genética , Adolescente , Corticoesteroides/uso terapéutico , Adulto , Niño , Femenino , Hormona Liberadora de Gonadotropina/genética , Gonadotropinas/uso terapéutico , Humanos , Hipogonadismo/tratamiento farmacológico , Hipogonadismo/patología , Sistema Hipotálamo-Hipofisario/patología , Masculino , Mutación , Neuronas/metabolismo , Neuronas/patología , Linaje , Sistema Hipófiso-Suprarrenal/metabolismo , Sistema Hipófiso-Suprarrenal/patología , Secuenciación del Exoma , Adulto Joven
8.
Can J Physiol Pharmacol ; 96(11): 1171-1180, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-29527933

RESUMEN

The relationship between liver enzymes and T2D risk is inconclusive. We aimed to evaluate the association between liver markers and risk of carbohydrate metabolism disorders, as well as their discriminatory power, for T2D prediction. This cross-sectional study enrolled 216 participants classified as normoglycemic, prediabetic, newly diagnosed diabetics, and diagnosed diabetics. All participants underwent anthropometric and biochemical measurements. The relationship between hepatic enzymes and glucose metabolism markers was evaluated by analyses of covariance. The associations between liver enzymes and incident carbohydrate metabolism disorders were analyzed through logistic regression and their discriminatory capacity to predict T2D by ROC analysis. High AP, ALT, γGT, and AST levels were independently related to decreased insulin sensitivity. Interestingly, a higher AP level was significantly associated with an increased risk of prediabetes (p = 0.017), newly diagnosed diabetes (p = 0.004), and T2D (p = 0.007). An elevated γGT level was an independent risk factor for T2D (p = 0.032) and undiagnosed T2D (p = 0.010) in prediabetic and normoglycemic subjects, respectively. In ROC analysis, AP was a powerful predictor of incident diabetes and significantly improved T2D prediction. Liver enzymes within the normal range, specifically AP levels, are associated with increased risk of carbohydrate metabolism disorders and significantly improved T2D prediction.


Asunto(s)
Diabetes Mellitus Tipo 2/sangre , Hígado/metabolismo , Estado Prediabético/sangre , Adulto , Anciano , Biomarcadores/sangre , Estudios Transversales , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/epidemiología , Femenino , Humanos , Pruebas de Función Hepática , Masculino , Persona de Mediana Edad , Estado Prediabético/diagnóstico , Estado Prediabético/epidemiología , Valor Predictivo de las Pruebas , Factores de Riesgo , Túnez/epidemiología
9.
Tunis Med ; 96(6): 353-359, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30430473

RESUMEN

AIM: To describe the prevalence of metabolic syndrome and to study the association of physical activity measured by pedometer with the metabolic syndrome components, in a sample of overweight and obese adolescents from Sfax City. METHODS: This study concerned 51 obese and overweight adolescents (28 girls and 23 boys), between the ages of 15 and 18 years, recruited by the unit of obesity and metabolic syndrome department of endocrinology, Hedi Chaker Hospital, University of Sfax, between december 2012 and october 2013. Metabolic syndrome was defined with the International Diabetes Federation (IDF) criteria. Physical activity was monitored with pedometer (Digi-Walker SW-200; Yamax Co, Tokyo, Japan). RESULTS: The frequency of metabolic syndrome was 21.6%. It was significantly higher in obese (25%) than in overweight (15,81%) adolescents (p=0.04). The most common component, associated with abdominal obesity, was hypoHDLemia observed in 58.8 % of the sample. The average steps / day measured by pedometer was significantly higher in subjects without metabolic syndrome than with (9648, 25±2297, 726 vs 7365, 91±1505, 65 steps/day; p=0, 03). Pedometer determined steps/day was inversely correlated with waist circumference (P<0.05), blood pressure (P<0.05) and triglycerides (P<0.05). CONCLUSION: Metabolic syndrome is prevalent in our young population. A more physically active lifestyle appears to be associated with lower probability of metabolic syndrome.


Asunto(s)
Ejercicio Físico/fisiología , Síndrome Metabólico/epidemiología , Obesidad Abdominal/epidemiología , Obesidad Infantil/epidemiología , Actigrafía , Adolescente , Presión Sanguínea/fisiología , Femenino , Humanos , Estilo de Vida , Masculino , Prevalencia , Triglicéridos/sangre , Túnez/epidemiología , Circunferencia de la Cintura/fisiología
10.
Tunis Med ; 96(8-9): 490-494, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30430526

RESUMEN

AIM: We describe the clinical and etiological profile of patients with Fahr's syndrome (FS). METHODS: Charts of sixteen patients diagnosed with FS between 1999 and 2014 were retrospectively assessed. RESULTS:   The mean age at diagnosis was 44.68 years (11-67 years). The most main presenting neurological features were seizures in 6 cases, headaches in 5 cases and parkinson's syndrome in 3 cases. Psychiatric disorders were observed in 2 patients including memory loss and iritability. Hypocalcemia clinical features were observed in 7 cases. The mean value of hypocalcemia was 1.69 mmol/l. Etiologies included idiopathic hypoparathyroidism in 4 patients, pseudohypoparathyroidism in 5 cases, secondary hypoparathyroidism, isolated hypovitaminosis D and cerebral radiotherapy in one case for each and Fahr's disease in 4 patients.  Oral calcium and vitamin D substitution were started in patients with parathyroid disturbances with favorable outcome. CONCLUSION: In this report, we propose to discuss the clinical manifestations of FS, its etiologies especially parathyroid disturbances and its therapeutic modalities.


Asunto(s)
Enfermedades de los Ganglios Basales/diagnóstico , Enfermedades de los Ganglios Basales/epidemiología , Enfermedades de los Ganglios Basales/etiología , Calcinosis/diagnóstico , Calcinosis/epidemiología , Calcinosis/etiología , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/epidemiología , Enfermedades Neurodegenerativas/etiología , Adolescente , Adulto , Edad de Inicio , Anciano , Trastornos Cerebrovasculares/complicaciones , Trastornos Cerebrovasculares/diagnóstico , Trastornos Cerebrovasculares/epidemiología , Niño , Comorbilidad , Femenino , Humanos , Hipoparatiroidismo/complicaciones , Hipoparatiroidismo/diagnóstico , Hipoparatiroidismo/epidemiología , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores Sexuales , Túnez/epidemiología , Adulto Joven
11.
Lipids Health Dis ; 16(1): 241, 2017 Dec 12.
Artículo en Inglés | MEDLINE | ID: mdl-29233142

RESUMEN

BACKGROUND: Vasculogenic erectile dysfunction (VED) is considered as a common complication among people with type 2 diabetes (T2D). We tested whether changes in fatty acid (FAs) classes measured in erythrocytes are associated with increased risk of diabetic VED along with related risk factors. METHODS: We assessed erythrocyte FAs composition, lipid peroxidation parameters and inflammatory cytokines among 72 T2D men with VED, 78 T2D men without VED and 88 healthy volunteers with similar age. Biochemical, hepatic, lipid and hormonal profiles were measured. RESULTS: T2D people with VED had significant decrease in the indexes of Δ6-desaturase and elongase activities compared to the other studied groups. The same group of participants displayed lower erythrocytes levels of dihomo-γ-linolenic acid (C20:3n-6) (P < .001), precursor of the messenger molecule PGE1 mainly involved in promoting erection. Moreover, absolute SFAs concentration and HOMA IR levels were higher in T2D people with VED when compared to controls and associated with impaired NO concentration (1.43 vs 3.30 ng/L, P < .001). Our results showed that IL-6 and TNF-α were significantly increased and positively correlated with MDA levels only in T2D people with VED (r = 0.884, P = .016 and r = 0.753, P = .035; respectively) suggesting a decrease in the relative availability of vasodilator mediators and an activation of vasoconstrictors release. CONCLUSION: Our findings show that the deranged FAs metabolism represents a potential marker of VED in progress, or at least an indicator of increased risk within men with T2D.


Asunto(s)
Ácido 8,11,14-Eicosatrienoico/sangre , Acetiltransferasas/sangre , Diabetes Mellitus Tipo 2/metabolismo , Eritrocitos/metabolismo , Impotencia Vasculogénica/metabolismo , Linoleoil-CoA Desaturasa/sangre , Acetiltransferasas/genética , Anciano , Alprostadil/sangre , Biomarcadores/sangre , Estudios de Casos y Controles , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/fisiopatología , Eritrocitos/patología , Elongasas de Ácidos Grasos , Expresión Génica , Humanos , Impotencia Vasculogénica/complicaciones , Impotencia Vasculogénica/genética , Impotencia Vasculogénica/fisiopatología , Interleucina-6/sangre , Interleucina-6/genética , Linoleoil-CoA Desaturasa/genética , Metabolismo de los Lípidos , Peroxidación de Lípido , Masculino , Persona de Mediana Edad , Óxido Nítrico/sangre , Factor de Necrosis Tumoral alfa/sangre , Factor de Necrosis Tumoral alfa/genética
12.
Nano Lett ; 15(8): 5307-13, 2015 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-26154305

RESUMEN

We report subnanometer modification enabled by an ultrafine helium ion beam. By adjusting ion dose and the beam profile, structural defects were controllably introduced in a few-layer molybdenum disulfide (MoS2) sample and its stoichiometry was modified by preferential sputtering of sulfur at a few-nanometer scale. Localized tuning of the resistivity of MoS2 was demonstrated and semiconducting, metallic-like, or insulating material was obtained by irradiation with different doses of He(+). Amorphous MoSx with metallic behavior has been demonstrated for the first time. Fabrication of MoS2 nanostructures with 7 nm dimensions and pristine crystal structure was also achieved. The damage at the edges of these nanostructures was typically confined to within 1 nm. Nanoribbons with widths as small as 1 nm were reproducibly fabricated. This nanoscale modification technique is a generalized approach that can be applied to various two-dimensional (2D) materials to produce a new range of 2D metamaterials.

13.
Med Princ Pract ; 25(3): 227-32, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26613579

RESUMEN

OBJECTIVE: The aim of the present study was to assess the reliability and validity of an Arabic version of the International Physical Activity Questionnaire for Adolescents (IPAQ-A) modified for use in Tunisia among overweight and obese adolescents. SUBJECTS AND METHODS: Fifty-one voluntary healthy, overweight or obese adolescents (15-18 years old) participated in the study. Physical activity (PA) indicators derived from the modified self-administered IPAQ-A were compared with pedometer-recorded data of step counts. The test-retest reliability of the IPAQ-A was evaluated using intraclass correlation coefficients (ICC) and Kappa tests between the response of participants in the two interviews. Validity was assessed using Spearman's rank correlation coefficient between the scores of the IPAQ-A and the step count pedometer. RESULTS: ICC revealed that the reliability of IPAQ-A values was high and ranged from 0.73 to 0.95. IPAQ-A scores were also significantly related to pedometer step counts (r = 0.66, p < 0.001). Strong relationships were observed between pedometer step count data and the IPAQ-A data for vigorous PA (r = 0.57, p < 0.001) and walking (r = 0.61, p < 0.001). However, a weaker relationship for moderate PA was observed (r = 0.24, p < 0.05). CONCLUSIONS: The modified version of the IPAQ-A questionnaire demonstrated an acceptable reliability and validity when used to assess the levels and patterns of PA in overweight or obese Tunisian adolescents.


Asunto(s)
Ejercicio Físico , Sobrepeso/fisiopatología , Obesidad Infantil/fisiopatología , Encuestas y Cuestionarios/normas , Actigrafía , Adolescente , Femenino , Humanos , Masculino , Reproducibilidad de los Resultados , Túnez
14.
Biochem Biophys Res Commun ; 459(3): 353-60, 2015 Apr 10.
Artículo en Inglés | MEDLINE | ID: mdl-25701779

RESUMEN

Mitochondrial diabetes (MD) is a heterogeneous disorder characterized by a chronic hyperglycemia, maternal transmission and its association with a bilateral hearing impairment. Several studies reported mutations in mitochondrial genes as potentially pathogenic for diabetes, since mitochondrial oxidative phosphorylation plays an important role in glucose-stimulated insulin secretion from beta cells. In the present report, we studied a Tunisian family with mitochondrial diabetes (MD) and deafness associated with nephropathy. The mutational analysis screening revealed the presence of a novel heteroplasmic mutation m.9276G>C in the mitochondrial COIII gene, detected in mtDNA extracted from leukocytes of a mother and her two daughters indicating that this mutation is maternally transmitted and suggest its implication in the observed phenotype. Bioinformatic tools showed that m.9267G>C mutation (p.A21P) is « deleterious ¼ and it can modify the function and the stability of the MT-COIII protein by affecting the assembly of mitochondrial COX subunits and the translocation of protons then reducing the activity of the respective OXPHOS complexes of ATP synthesis. The nonsynonymous mutation (p.A21P) has not been reported before, it is the first mutation described in the COXIII gene which is related to insulin dependent mitochondrial diabetes and deafness and could be specific to the Tunisian population. The m.9267G>C mutation was present with a nonsynonymous inherited mitochondrial homoplasmic variation MT-COI m.5913 G>A (D4N) responsible of high blood pressure, a clinical feature detected in all explored patients.


Asunto(s)
Sordera/complicaciones , Sordera/genética , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/genética , Complejo IV de Transporte de Electrones/genética , Genes Mitocondriales , Enfermedades Renales/complicaciones , Enfermedades Renales/genética , Mutación Missense , Adulto , Secuencia de Aminoácidos , Sustitución de Aminoácidos , Secuencia de Bases , Estudios de Casos y Controles , Preescolar , Análisis Mutacional de ADN , ADN Mitocondrial/genética , Sordera/enzimología , Diabetes Mellitus Tipo 2/enzimología , Complejo IV de Transporte de Electrones/química , Femenino , Humanos , Hipertensión/complicaciones , Hipertensión/enzimología , Hipertensión/genética , Enfermedades Renales/enzimología , Masculino , Persona de Mediana Edad , Enfermedades Mitocondriales , Modelos Moleculares , Datos de Secuencia Molecular , Linaje , Estructura Secundaria de Proteína , Homología de Secuencia de Aminoácido , Túnez , Adulto Joven
15.
Eur J Pediatr ; 174(11): 1491-501, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25968604

RESUMEN

UNLABELLED: We aimed to identify causal mutation(s) in 13 patients with thyroid dyshormonogenesis (TD) from three consanguineous Tunisian families. A 12-year clinical follow-up showed phenotypic variability ranging from the presence to the absence of goiter, sensorineural deafness, and mental retardation. Genetic analysis using microsatellite markers within two candidate genes (TPO and PDS) gave evidence of linkage with the TPO gene. Sequencing of its 17 exons and their flanking intron-exon junctions revealed the previously described c.875C>T (p.S292F) mutation in homozygous state. No additional mutations were found in either a 900 bp of the TPO gene promoter or PDS gene. In silico analysis showed that p.S292F mutation might reduce the catalytic cavity of the TPO which would restrict access of a potential substrate to the catalytic pocket. Using 4SNPs and one microsatellite marker in the TPO gene, an associated haplotype: G-C-G-G-214 was found, giving evidence of a founder mutation. CONCLUSION: This is the first description of a TD causing mutation in Tunisia and thus may help to develop a genetic screening protocol for congenital hypothyroidism in the studied region. Although structural modeling suggested a pathogenic effect of this mutation, functional studies are needed. Additional causing and/or modifier genes, together with late diagnosis could explain the clinical variability observed in our patients.


Asunto(s)
Autoantígenos/genética , Hipotiroidismo Congénito/genética , Efecto Fundador , Yoduro Peroxidasa/genética , Proteínas de Unión a Hierro/genética , Mutación , Adolescente , Adulto , Niño , Consanguinidad , Femenino , Genotipo , Humanos , Masculino , Proteínas de Transporte de Membrana/genética , Persona de Mediana Edad , Linaje , Transportadores de Sulfato , Glándula Tiroides/anomalías , Túnez , Adulto Joven
16.
Tunis Med ; 93(2): 96-100, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26337307

RESUMEN

BACKGROUND: Prescription of generic products is a way to reduce health expense. Bioequivalence is the most appropriate procedure to evaluate the quality and therapeutic efficacy of a generic product. Generic prescriptions are a strategic choice in Tunisia. OBJECTIVE: We expose in this work, a bioequivalence study witch compare a generic (test) product: DIABENIL* manufactured by a Tunisian pharmaceutical industry Dar Essaidaly to the innovative (reference) product: DAONIL* of Aventis pharma laboratories. METHODS: The bioequivalence of two glibenclamide 5-mg tablets was determined in healthy human, adult volunteers after a single dose in a randomized cross-over in double blind study. Test and reference were administered to twenty-four healthy volunteers of both sexes after overnight fasting. In total, 15 Blood samples were collected before and following the administration of the drug. Serum concentrations of glibenclamide were determined by validated HPLC method. The pharmacokinetic parameters AUC0t, AUC0 , Cmax and tmax were tested for bioequivalence. RESULTS: All parameters showed bioequivalence between both formulations as their confidence intervals were within the bioequivalence acceptable range of 0.80-1.25 limits. CONCLUSION: We conclude that the two formulations exhibited comparable pharmacokinetic profiles and that the two products can be considered interchangeable in medical practice.


Asunto(s)
Gliburida/farmacocinética , Adulto , Área Bajo la Curva , Método Doble Ciego , Femenino , Gliburida/administración & dosificación , Voluntarios Sanos , Humanos , Masculino , Persona de Mediana Edad , Comprimidos , Equivalencia Terapéutica , Adulto Joven
17.
Nat Commun ; 15(1): 676, 2024 Jan 23.
Artículo en Inglés | MEDLINE | ID: mdl-38263315

RESUMEN

Miniaturized spectrometers have great potential for use in portable optoelectronics and wearable sensors. However, current strategies for miniaturization rely on von Neumann architectures, which separate the spectral sensing, storage, and processing modules spatially, resulting in high energy consumption and limited processing speeds due to the storage-wall problem. Here, we present a miniaturized spectrometer that utilizes a single SnS2/ReSe2 van der Waals heterostructure, providing photodetection, spectrum reconstruction, spectral imaging, long-term image memory, and signal processing capabilities. Interface trap states are found to induce a gate-tunable and wavelength-dependent photogating effect and a non-volatile optoelectronic memory effect. Our approach achieves a footprint of 19 µm, a bandwidth from 400 to 800 nm, a spectral resolution of 5 nm, and a > 104 s long-term image memory. Our single-detector computational spectrometer represents a path beyond von Neumann architectures.

18.
ACS Appl Mater Interfaces ; 16(7): 9495-9505, 2024 Feb 21.
Artículo en Inglés | MEDLINE | ID: mdl-38334441

RESUMEN

Nanodevices based on van der Waals heterostructures have been predicted, and shown, to have unprecedented operational principles and functionalities that hold promise for highly sensitive and selective gas sensors with rapid response times and minimal power consumption. In this study, we fabricated gas sensors based on vertical MoS2/WS2 van der Waals heterostructures and investigated their gas sensing capabilities. Compared with individual MoS2 or WS2 gas sensors, the MoS2/WS2 van der Waals heterostructure gas sensors are shown to have enhanced sensitivity, faster response times, rapid recovery, and a notable selectivity, especially toward NO2. In combination with a theoretical model, we show that it is important to take into account created trapped states (flat bands) induced by the adsorption of gas molecules, which capture charges and alter the inherent built-in potential of van der Waals heterostructure gas sensors. Additionally, we note that the performance of these MoS2/WS2 heterostructure gas sensors could be further enhanced using electrical gating and mechanical strain. Our findings highlight the importance of understanding the effects of altered built-in potentials arising from gas molecule adsorption induced flat bands, thus offering a way to enhance the gas sensing performance of van der Waals heterostructure gas sensors.

19.
Metab Syndr Relat Disord ; 22(2): 85-89, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38232370

RESUMEN

The metabolic profile during prolactinoma may be subject to significant changes. We aimed to describe the different metabolic aspects in patients monitored for prolactinoma and to study the correlations between the size of the prolactinoma and the metabolic parameters. We conducted a retrospective, descriptive, and analytical study of 77 cases of prolactinomas collected and monitored at the endocrinology and diabetology department of the Hedi Chaker Hospital in Sfax between 2000 and 2017. Our patients were divided into three groups according to the size of their prolactinomas. Statistical correlations were sought between tumor size and clinical and biological parameters. The mean age of our patients was 38.3 ± 14.2 years. They were divided into 51 women (66.2%) and 26 men (33.7%). Pituitary tumor syndrome was the most common circumstance of discovery in our population (62.3%). The clinical examination revealed an average waist circumference of 95.71 cm. Android fat distribution was observed in 25 women (49%) and 12 men (46.1%). A statistically significant positive correlation was objectified between waist circumference and tumor size (r = 0.29 and P = 0.019). The average body mass index was 28.08 kg/m2. Obesity was noted in 56 cases (72.7%). Glucose tolerance disorders and hypertriglyceridemia were also more evident each time prolactinoma size increased in contrast to the level of high-density lipoprotein cholesterol which decreased with adenoma size. Our study highlighted the metabolic and hormonal repercussions of prolactinomas. Metabolic syndrome was more common in patients with larger prolactinoma. These results should guide the initial assessment and therapeutic management of prolactin adenomas.


Asunto(s)
Adenoma , Síndrome Metabólico , Neoplasias Hipofisarias , Prolactinoma , Masculino , Humanos , Femenino , Adulto Joven , Adulto , Persona de Mediana Edad , Prolactinoma/epidemiología , Prolactinoma/tratamiento farmacológico , Prolactinoma/metabolismo , Estudios Retrospectivos , Neoplasias Hipofisarias/diagnóstico , Neoplasias Hipofisarias/epidemiología , Neoplasias Hipofisarias/tratamiento farmacológico , Obesidad/epidemiología , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/epidemiología
20.
ACS Appl Mater Interfaces ; 16(17): 22622-22631, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38625091

RESUMEN

The strong light-matter interaction and naturally passivated surfaces of van der Waals materials make heterojunctions of such materials ideal candidates for high-performance photodetectors. In this study, we fabricated SnS2/MoS2 van der Waals heterojunctions and investigated their photoelectric properties. Using an applied gate voltage, we can effectively alter the band arrangement and achieve a transition in type II and type I junctions. It is found that the SnS2/MoS2 van der Waals heterostructures are type II heterojunctions when the gate voltage is above -25 V. Below this gate voltage, the heterojunctions become type I. Photoelectric measurements under various wavelengths of incident light reveal enhanced sensitivity in the ultraviolet region and a broadband sensing range from 400 to 800 nm. Moreover, due to the transition from type II to type I band alignment, the measured photocurrent saturates at a specific gate voltage, and this value depends crucially on the bias voltage and light wavelength, providing a potential avenue for designing compact spectrometers.

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