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1.
Blood Cells Mol Dis ; 80: 102374, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31670184

RESUMO

This study was aimed to identify the predictors of splenic sequestration crisis (SSC) among pediatric patients with sickle cell disease (SCD). This prognosis study was carried out in the pediatric immuno-hematology unit, over 20 years (1998 to 2017), enrolling patients with SCD. The cox model was used in multivariate analysis. Among 423 patients with SCD (240 S/S phenotype, 128 S/B0, 30 S/B+, 14 S/O arab and 11 S/C), 150(35.4%) had at least one episode of SSC. The average age of patients at the first episode was 48.3 months ± 32.4(2-168). Recurrence of SSC was observed in 117 patients (78%). Spleen size ≥3 cm at baseline was the strongest predictor of SSC occurrence (HR = 7.27, CI: 4.01-13.20, p = 0.05) and recurrence (HR = 6.37, CI: 1,46-27.83, p = 0.01). Pallor revealing the disease, age at onset of symptoms <24 months and reticulocytosis ≥300,000/mm3 increased the risk of SSC. Pain crisis revealing the disease as well as neutrophilia was associated with a lower risk of SSC. In conclusion, this study confirmed the high prevalence of SSC in SCD and the high frequency of recurrence after a first episode. The SSC occurrence and recurrence were intimately linked to the presence of splenomegaly, chronic pallor revealing the disease as well as reticulocytosis.

2.
Ann Hum Biol ; : 1-6, 2019 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-31793346

RESUMO

Background: Consanguinity increases the incidence of recessive diseases such as beta-thalassaemia major (ßTM), one of the most prevalent lethal inherited diseases in the world.Aim: This study aims to identify the frequency of endogamy and consanguinity in two Mediterranean ßTM populations and to study the implication of socio-economic factors.Subjects and methods: A trans-sectional study was conducted in 203 Tunisian families and 75 Italian families. Data were collected using a questionnaire completed by patients and parents.Results: Complete endogamy and consanguinity were observed in 82.75% and 62.56% of Tunisian families, respectively. Complete endogamy was found in 90.67% of Italian families, no consanguinity was noted. The low occupation status of Tunisian mothers was associated with an increasing frequency of consanguinity (p = .01) and endogamy (p = .0003). Consanguinity was associated with low education level (p = .012) and low occupation status (p=.047) of fathers. No significant association was found between endogamy and socio-economic factors in the Italian sample.Conclusions: High consanguinity and endogamy rates in Tunisian families may explain the frequency of ßTM in Tunisia. The high endogamy rate in Italian families could also increase the frequency of ßTM. Identification of geographical distribution and socio-economic factors leading to endogamy and consanguinity in these populations might help to improve ßTM prevention.

3.
J Clin Immunol ; 2019 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-31696364

RESUMO

Autosomal recessive agammaglobulinemia (ARA) is a primary immunodeficiency characterized by absent peripheral B cells, severe hypogammaglobulinemia, and absent BTK gene mutations. In ARA, mutations occur in genes encoding the pre-B cell receptor (pre-BCR) or downstream signaling proteins. In this work, we used candidate gene and whole-exome sequencing to investigate the molecular basis of ARA in 6 patients from 4 consanguineous North-African families. Sanger sequencing of candidate genes encoding the pre-BCR components (ΙGΗΜ, CD79A, CD79B, IGLL1, and VPREB1) was initially performed and determined the genetic defect in five patients. Two novel mutations in IGHM (p.Val378Alafs*1 and p.Ile184Serfs*21) were identified in three patients from two unrelated kindred and a novel nonsense mutation was identified in CD79A (p.Trp66*) in two siblings from a third kindred. Whole-exome sequencing (WES) was performed on the sixth patient who harbored a homozygous stop mutation at position 407 in the RAG2 gene (p.Glu407*). We concluded that conventional gene sequencing, especially when multiple genes are involved in the defect as is the case in ARA, is costly and time-consuming, resulting in delayed diagnosis that contributes to increased morbidity and mortality. In addition, it fails to identify the involvement of novel and unsuspected gene defects when the phenotype of the patients is atypical. WES has the potential to provide a rapid and more accurate genetic diagnosis in ARA, which is crucial for the treatment of the patients.

4.
Blood Cells Mol Dis ; 79: 102342, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31302454

RESUMO

In beta-thalassemia patients, erythrocyte autoantibodies can remain silent or lead to Autoimmune Hemolytic Anemia (AIHA).The aim of this study was to identify predictors of AIHA in beta-thalassemia patients with positive Direct Antiglobulin Test (DAT), in Tunisia. This longitudinal prognosis study was carried out on beta-thalassemia patients with a positive confirmed DAT. Predictors of AIHA were identified the Kaplan-Meier method. A Cox model analysis was used to identify independent predictors. Among 385 beta thalassemia patients, 87 developed positive DAT (22.6%). Autoimmune hemolytic anemia was occurred in 25 patients. Multivariate analysis showed that AIHA was independently associated with beta-thalassemia intermedia and similar family history of AIHA. Splenectomy in patients with positive DAT was independently associated with an increased risk of AIHA (HR = 6.175, CI: 2.049-18.612, p < 0.001). The risk of developing AIHA was higher during the first 72 transfusions. Autoimmune hemolytic anemia was significantly associated with polyspecific DAT (anti-complement and anti-IgG), blood group AB and prior alloimmunization. Whereas transfusion by phenotypic and leukoreduced blood was a protective factor. In summary, splenectomy after autoimmunization, prior alloimmunization, DAT specificity (IgG with complement), thalassemia intermedia, AB blood group and family history of AIHA were strongly associated with AIHA. Leukoreduced blood transfusion had a proven preventive role.

5.
J Pediatr Hematol Oncol ; 41(7): e473-e477, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31306339

RESUMO

BACKGROUND: Parenteral nutrition (PN) seems to be a practical solution to face the negative nutritional effects of bone marrow transplantation. OBJECTIVE: Report and describe all observed PN-related complications in children undergoing allogenic bone marrow transplantation in a tertiary center and determine the possible risk factors. MATERIALS AND METHODS: This was a retrospective and observational study including 51 allografted children 2 to 17 years of age. We collected from medical patient records any noticed PN-related complications using an assessment causality method. The independent risk factors for complications were investigated by multivariate analysis. RESULTS: A total of 92% of patients (n=47) developed a total of 136 complications attributable to PN. The incidence rate of complications was 5 for 100 patient days of PN. Infectious complications (32.3%) and electrolytic disorders (27.9%) were the most common conditions identified during our study. Multivariate analysis showed that the duration of PN exposure, age, and hyperglycemia were the risk factors for the onset of these complications. CONCLUSIONS: Although we have noticed multiple complications attributable to PN, a certain causal link is difficult to establish in this particular context. Emphasizing enteral nutrition in bone marrow graft protocols would be the best way to avoid these complications.

6.
Soins Pediatr Pueric ; 40(308): 38-42, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31171299

RESUMO

In Tunisia, beta-thalassemia major is a real public health problem. A study carried out of patients affected shows that for them, this chronic haemoglobinopathy is a disability hampering their physical activities, their social integration, their academic results and their emotional life.


Assuntos
Sucesso Acadêmico , Talassemia beta/psicologia , Humanos , Tunísia
7.
Mediterr J Hematol Infect Dis ; 10(1): e2018065, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30416697

RESUMO

Skin manifestations are frequent among patients with primary immunodeficiency diseases (PIDs). Their prevalence varies according to the type of immunodeficiency. This review provides the reader with an up-to-date summary of the common dermatologic manifestations of PIDs among Tunisian children. We conducted a prospective study on two hundred and ninety children with immune deficiency. Demographic details (including age, sex, and consanguinity) with personal and family history were recorded. Special attention was paid to cutaneous manifestations. Dermatological involvements were grouped according to the etiology of their most prominent sign. Cutaneous manifestations were found in 164 patients (56.5%). They revealed the diagnosis of PIDs in 71 patients (24.5 %). The mean age at presentation was 21 months. Overall the most prominent cutaneous alterations were infectious. They accounted for 106 cases (36.55%). The most prevalent causes of cutaneous infections were bacterial: 93 cases (32.06%). Immuno-allergic skin diseases were among the common findings in our study. These include eczematous dermatitis found in 62 cases (21.38%). Malignancy related PIDs was seen in a boy with Wiskott Aldrich syndrome. He developed Kaposi's sarcoma at the age of 14 months. Cutaneous changes are common among children with PIDs. In pediatric patients with failure to thrive, chronic refractory systemic manifestations often present in other family members, recurrent cutaneous infections unresponsive to adequate therapy, atypical forms of eczematous dermatitis or unusual features should arouse the suspicion of PIDs and prompt specialized immunologic consultation should be made.

8.
Artigo em Inglês | MEDLINE | ID: mdl-30273710

RESUMO

BACKGROUND: Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The 3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms of the body distribution of postzygotic mutations. Mosaicism has been reported occasionally in patients with primary immunodeficiency diseases (PIDs) since the early 1990s, but its real involvement has not been systematically addressed. OBJECTIVE: We sought to investigate the incidence of gene mosaicism in patients with PIDs. METHODS: The amplicon-based deep sequencing method was used in the 3 parts of the study that establish (1) the allele frequency of germline variants (n = 100), (2) the incidence of parental gonosomal mosaicism in families with PIDs with de novo mutations (n = 92), and (3) the incidence of mosaicism in families with PIDs with moderate-to-high suspicion of gene mosaicism (n = 36). Additional investigations evaluated body distribution of postzygotic mutations, their stability over time, and their characteristics. RESULTS: The range of allele frequency (44.1% to 55.6%) was established for germline variants. Those with minor allele frequencies of less than 44.1% were assumed to be postzygotic. Mosaicism was detected in 30 (23.4%) of 128 families with PIDs, with a variable minor allele frequency (0.8% to 40.5%). Parental gonosomal mosaicism was detected in 6 (6.5%) of 92 families with de novo mutations, and a high incidence of mosaicism (63.9%) was detected among families with moderate-to-high suspicion of gene mosaicism. In most analyzed cases mosaicism was found to be both uniformly distributed and stable over time. CONCLUSION: This study represents the largest performed to date to investigate mosaicism in patients with PIDs, revealing that it affects approximately 25% of enrolled families. Our results might have serious consequences regarding treatment and genetic counseling and reinforce the use of next-generation sequencing-based methods in the routine analyses of PIDs.

9.
PLoS One ; 13(8): e0201991, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30169521

RESUMO

BACKGROUND AND AIMS: In inflammatory bowel disease (IBD), the impact of established cardiovascular risk factors and disease-related factors on the risk of acute arterial events is still unclear. We aimed to identify risk factors of acute arterial events in patients with IBD. METHODS: All consecutive patients followed at Saint-Antoine Hospital between 1996 and 2015 with subsequent occurrence of acute arterial events (acute coronary syndrome or ischemic stroke) were identified. Traditional cardiovascular risk factors, treatment exposure, systemic inflammation (mean serum CRP level greater than or equal to 5 mg/L) and IBD clinical activity were assessed. A nested case-control study was performed including cases and controls without arterial ischemic event, matched on age, gender, and disease extent. RESULTS: A total of 30 patients (median age at acute vascular event occurrence: 42 years (interquartile range: 25-59)) developed acute coronary syndrome (n = 22) or ischemic stroke (n = 8). In univariate analysis, clinical disease activity and the persistence of systemic inflammation, diabetes, dyslipidemia and hypertension were significantly associated with an increased risk of acute arterial events. Neither protective nor aggravating effects associated with treatment exposure were identified. In multivariate analysis, the presence of diabetes (Odds ratio (OR): 14.5, 95% confidence interval (CI): 1.1-184.7) and clinical disease activity (OR: 10.4, 95% CI: 2.1-49.9) remained significantly associated with the risk of acute arterial event. CONCLUSION: Disease activity may have an independent impact on the risk of acute arterial events in patients with IBD. These findings may highlight new potential benefits of optimizing anti-inflammatory treatment in patients with persisting clinical activity.

10.
Food Res Int ; 111: 220-228, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30007680

RESUMO

The approach of this research was to describe the biochemical transformations of minor components of virgin olive oil with high impact on its sensory quality, specifically "volatile compounds" during its extraction process. For this purpose `Picual´, `Arbequina´ and `Hojiblanca´ cultivars were processed at three different harvesting times. Their volatile profiles and levels of enzymatic activity of "hydroperoxide lyase", responsible for the biosynthesis of C6 aldehydes related to "green and fruity notes", were monitored and identified in mesocarp, paste before kneading and paste after kneading based on the catalytic action of crude enzyme extracts. Both of them, volatiles and HPL, were analyzed by incubating with their corresponding substrates and reaction products formed were analyzed by Solid Phase Microextraction-Gas Chromatography and Mass Spectrometry. The results obtained in the present research can be useful in order to develop new markers biochemical whereby improved aroma quality in olive breeding programs or in the design of new protocol of VOO extraction.

11.
Biomed Pharmacother ; 105: 573-581, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29890465

RESUMO

AIM: Zinc has proved its efficacy in many models of ischemia reperfusion (I/R) injury. In this study, we used zinc acexamate (ZAC) as an exogenous source of zinc against renal I/R injury and we investigated whether its protective effects are mediated by the decrease of oxidative stress, inflammation, and mitochondria induced-apoptosis. METHODS: Rats were orally pretreated with vehicle or ZAC (10 or 100 mg/kg) 24 h and 30 min prior to 1 h of bilateral renal warm ischemia and 2 h of reperfusion. RESULTS: Our data showed that 10 mg/kg of ZAC, but not 100 mg/kg, improved renal architecture and function. Also, the low dose of ZAC up-regulated antioxidant enzymes activities and glutathione level and decreased lipids and proteins oxidation. Interestingly, the use of ZAC resulted in a significant reduce of pro-inflammatory cytokines (IL-1ß, IL-6 and MCP-1), enhanced mitochondria integrity and decreased expression of the pro-apoptotic protein caspase-9. CONCLUSION: We conclude that renal I/R induced oxidative stress, inflammation and apoptosis and that the use of ZAC at 10 mg/kg, but not 100 mg/kg, protects rat kidneys from I/R injury by down-regulating these processes.


Assuntos
Aminocaproatos/uso terapêutico , Antioxidantes/uso terapêutico , Apoptose/efeitos dos fármacos , Rim/efeitos dos fármacos , Mitocôndrias/efeitos dos fármacos , Estresse Oxidativo/efeitos dos fármacos , Traumatismo por Reperfusão/prevenção & controle , Aminocaproatos/administração & dosagem , Animais , Antioxidantes/administração & dosagem , Citocinas/imunologia , Modelos Animais de Doenças , Relação Dose-Resposta a Droga , Rim/irrigação sanguínea , Masculino , Ratos Wistar , Isquemia Quente
12.
J Cell Physiol ; 233(11): 8677-8690, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29761825

RESUMO

Oxidative stress is a major factor involved in the pathogenesis of renal ischemia/reperfusion (I/R). Exogenous zinc (Zn) was suggested as a potent antioxidant; however, the mechanism by which it strengthens the organ resistance against the effects of reactive oxygen species (ROS) is not yet investigated. The present study aims to determine whether acute zinc chloride (ZnCl2 ) administration could attenuate endoplasmic reticulum (ER) stress, autophagy, and inflammation after renal I/R. Rats were subjected to either sham operation (Sham group, n = 6), or 1 hr of bilateral ischemia followed by 2 hr of reperfusion (I/R groups, n = 6), or they received ZnCl2 orally 24 hr and 30 min before ischemia (ZnCl2 group, n = 6). Rats were subjected to 1 hr of bilateral renal ischemia followed by 2 hr of reperfusion (I/R group, n = 6). Our results showed that ZnCl2 enhances renal function and reduces cytolysis (p < 0,05). In addition, it increased significantly the activities of antioxidant enzymes (SOD, CAT, and GPX) and the level of GSH in comparison to I/R (p < 0,05). Interestingly, ZnCl2 treatment resulted in significant decreased ER stress, as reflected by GRP78, ATF-6,p-eIF-2α, XPB-1, and CHOP downregulaion. Rats undergoing ZnCl2 treatment demonstrated a low expression of autophagy parameters (Beclin-1 and LAMP-2), which was correlated with low induction of apoptosis (caspase-9, caspase-3, and p-JNK), and reduction of inflammation (IL-1ß, IL-6, and MCP-1) (p < 0,05). In conclusion, we demonstrated the potential effect of Zn supplementation to modulate ER pathway and autophagic process after I/R.

14.
Mediterr J Hematol Infect Dis ; 10(1): e2018031, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29755708

RESUMO

ß-thalassemia major (ß-TM) is among the most common hereditary disorders imposing high expenses on health-care system worldwide. The patient's survival is dependent on lifetime blood transfusion which leads to iron overload and its toxicity in various organs including endocrine glands. This article provides an overview of endocrine disorders in beta-TM patients. This single center investigation enrolled 28 ß-TM patients (16 males, 12 females) regularly transfused with packed red cell since early years of life. For each patient were determined: age, sex, number of transfusions received, history of splenectomy and anthropometric parameters. All patients underwent an evaluation of hormonal status including growth, gonadal, thyroid, adrenal cortex, and parathyroid glands. Dual-energy X-ray absorptiometry was used to diagnose low bone mass. Assessment of iron overload status was performed by measuring the serum ferritin concentration and the results of magnetic resonance imaging T2*. Growth retardation was found in 16 of the 28 studied patients (57 %). Thirteen among them had delayed puberty. Spontaneous puberty was achieved in 16 cases. Growth hormone (GH) deficiency was found in 10 cases (35 %). Seventeen among the studied patients (60 %) developed disorders of glucose homeostasis. Subclinical hypothyroidism was found in six patients (21 %). Intensive chelation therapy had allowed the reversibility of this complication in five cases. Adrenal Insufficiency was observed in 9 cases (32%). Hypoparathyroidism has occurred in one case. Ten of the 28 studied patients had low bone mass (35%). Twenty-three of the 28 studied patients (82%) had at least one endocrine complication.

15.
Artigo em Inglês | MEDLINE | ID: mdl-29733120

RESUMO

Ischaemia reperfusion (I/R) is associated with liver injury and impaired regeneration during partial hepatectomy (PH). The aim of this study was to investigate the effect of thymoquinone (TQ), the active compound of essential oil obtained from Nigella sativa seeds, on rat liver after PH. Male Wistar rats were divided equally into four groups (n = 6) receiving an oral administration of either vehicle solution (sham and PH groups) or TQ at 30 mg/kg (TQ and TQ + PH groups) for 10 consecutive days. Then, rats underwent PH (70%) with 60 minutes of ischaemia followed by 24 hours of reperfusion (PH and TQ + PH groups). Alanine aminotransferase (ALT) activity and histopathological damage were determined. Also, antioxidant parameters, liver regeneration index, hepatic adenosine triphosphate (ATP) content, endoplasmic reticulum (ER) stress and apoptosis were assessed. In response to PH under I/R, liver damage was significantly alleviated by TQ treatment as evidenced by the decrease in ALT activity (P < .01) and histological findings (P < .001). In parallel, TQ preconditioning increased hepatic antioxidant capacities. Moreover, TQ improved mitochondrial function (ATP, P < .05), attenuated ER stress parameters and repressed the expression of apoptotic effectors. Taken together, our results suggest that TQ preconditioning could be an effective strategy to reduce liver injury after PH under I/R. The protective effects were mediated by the increase of antioxidant capacities and the decrease of ER stress and apoptosis.

16.
J Sci Food Agric ; 98(14): 5361-5367, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29660125

RESUMO

BACKGROUND: Vertical centrifugation is the main method for virgin olive oil (VOO) clarification. However, in recent years, settling tanks are also being used to clarify the oils from decanters. They can operate under static or dynamic conditions. In this work, vertical centrifugation and settling under dynamic conditions for VOO clarification and their effects on VOO characteristics were compared. RESULTS: VOO quality parameters were not affected by the clarification systems studied. The vertical centrifugal separator (VCS) showed higher clarification efficiency, giving clarified oils with higher phenol content and better sensory characteristics. VOOs clarified by dynamic settling showed notable losses of phenols and worse sensory characteristics, since the tank purge system was not efficient, with most of the impurities remaining in the tanks. CONCLUSION: The VCS with minimal water addition is a quick operation with low water consumption and is a better option to produce VOOs of improved quality, especially in terms of longer shelf life and preservation of positive sensory notes. © 2018 Society of Chemical Industry.


Assuntos
Manipulação de Alimentos/métodos , Olea/química , Azeite de Oliva/química , Centrifugação , Manipulação de Alimentos/instrumentação , Humanos , Fenóis/análise , Paladar
17.
Biomed Pharmacother ; 104: 841-847, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29609847

RESUMO

This study aims to determine whether Angiotensin IV (Ang IV) addition to Celsior preservation solution could improve hepatic endothelium function and provide better liver protection during subnormothermic machine preservation (SMP). Two experimental models were used: In the first part of the study, rings isolated from rat hepatic artery were preserved in Celsior solution (6 h, 20 °C) with and without Ang IV (10-9 M), then, endothelium-dependent relaxation (EDR) and the concentration of acetylcholine inducing half-maximal relaxation of pre-contracted rings (EC50) were measured. Also, in order to investigate the implication of nitric oxide (NO) on EDR, the rings of hepatic artery were incubated with L-NG-nitroarginine metyl ester (L-NAME). In the second part of the study, rat livers were subjected to SMP with oxygenated Celsior solution (6 h, 20 °C), supplemented or not with Ang IV (10-9 M) and then perfused (2 h, 37 °C) with Krebs Henseleit solution. We found that Ang IV supplementation to Celsior solution decreased EC50 value and improved EDR of hepatic artery rings, 6h after sub-normothermic preservation. Interestingly, Ang IV amplified the vessel relaxation in a NO-dependent manner. Moreover, liver SMP with Ang IV reduced oxidative stress and cell injury and improved organ function. Ang IV activated pAkt, increased eNOS protein level and decreased apoptosis in the preserved liver grafts. In conclusion, we showed that the use of Ang IV in Celsior solution for sub-normothermic graft preservation insured a better NO-dependent relaxation and improved liver functional recovery.


Assuntos
Angiotensina II/análogos & derivados , Fígado/efeitos dos fármacos , Soluções para Preservação de Órgãos/farmacologia , Transplantes/efeitos dos fármacos , Angiotensina II/farmacologia , Animais , Apoptose/efeitos dos fármacos , Dissacarídeos/farmacologia , Eletrólitos/farmacologia , Endotélio Vascular/efeitos dos fármacos , Endotélio Vascular/metabolismo , Glutamatos/farmacologia , Glutationa/farmacologia , Histidina/farmacologia , Soluções Isotônicas/farmacologia , Fígado/metabolismo , Masculino , Manitol/farmacologia , NG-Nitroarginina Metil Éster/farmacologia , Óxido Nítrico/metabolismo , Óxido Nítrico Sintase Tipo III/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Perfusão/métodos , Ratos , Ratos Sprague-Dawley
18.
Can J Physiol Pharmacol ; 96(3): 227-231, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28675791

RESUMO

Liver ischemia-reperfusion (IR) injury is inevitable in surgical procedures such as hepatic resection and liver transplantation. It represents a leading cause of liver graft dysfunction and primary nonfunction after transplantation. Phosphodiesterase (PDE) inhibitors are emerging as effective drugs able to reduce IR damage. The aim of this study was to investigate the effect of selective PDE-3 inhibitor olprinone (Olp) against liver IR injury. Male Wistar rats were subjected to 1 h of partial warm ischemia (70%) followed by 6 h of reperfusion. Before ischemia, rats were treated with saline (IR group), Olp (Olp group), or Olp with Akt inhibitor LY294002 (Olp plus LY group). After reperfusion, hepatic injury (transaminase activities), mitochondrial damage (glutamate dehydrogenase activity), oxidative stress (malondialdehyde and glutathione concentrations and catalase and superoxide dismutase activities), and protein kinase Akt activation were evaluated. Rat treatment with Olp reduced liver injury, prevented mitochondrial damage, decreased lipid peroxidation, and enhanced antioxidant enzymes. Also, Olp induced a significant activation in protein kinase Akt. Inhibition of Akt with LY294002 abolished all of the protective effects of Olp. In conclusion, Olp treatment may be an effective strategy in reducing liver IR injury through oxidative stress prevention and Akt activation.


Assuntos
Citoproteção/efeitos dos fármacos , Imidazóis/farmacologia , Fígado/efeitos dos fármacos , Estresse Oxidativo/efeitos dos fármacos , Proteínas Proto-Oncogênicas c-akt/metabolismo , Piridonas/farmacologia , Traumatismo por Reperfusão/metabolismo , Traumatismo por Reperfusão/prevenção & controle , Alanina Transaminase/metabolismo , Animais , Aspartato Aminotransferases/metabolismo , Catalase/metabolismo , Ativação Enzimática/efeitos dos fármacos , Glutationa/metabolismo , Peroxidação de Lipídeos/efeitos dos fármacos , Fígado/irrigação sanguínea , Fígado/metabolismo , Fígado/patologia , Masculino , Malondialdeído/metabolismo , Ratos , Ratos Wistar , Traumatismo por Reperfusão/patologia
19.
Tunis Med ; 96(10-11): 672-677, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30746660

RESUMO

INTRODUCTION: Primary Immunodeficiency (PIDs) is a set of 330 rare hereditary diseases that increase susceptibility to infections, allergies, autoimmunity, and neoplasia. North American registries give higher prevalence than Maghreb ones, whereas consanguinity is high. The purpose of this study is to compare prevalence and coverage rate of Maghreb PID registries with estimates based on USA. METHODS: We searched the prevalence of PIDs in the Maghreb registers. Next, we estimated the expected values based on recent publications. Finally, we calculated the coverage rate of the Maghreb registries compared to the new estimates and we evaluated the impact of consanguinity. RESULTS: The total number is N1 = 2456 patients. The current Maghreb PID Prevalence is 2.56 / 100,000 inhabitants (population of 94,804,694 Million in 2017). Tunisia leads with a prevalence of 8.70 followed by Morocco 2.09, Libya 1.65 and Algeria 1.46/100.000 habitants. We did not find values for Mauritania. If we extrapolate the prevalence of the USA to the Maghreb population, the number of patients in the Maghreb would be N2 = 27,588 and the coverage rate (N1 / N2) would be 8.90%. This low coverage rate is however better than the World average (1.21%), that of Latin America 1.19% and Africa 0.36%. The Maghreb prevalence is close to that of the Arab world 2.04 / 100,000 (population of 391,449,544 in 2017). Using the incidence found in the USA, the number of patients would be 9765 new patients per year in the Maghreb and 40,319 in Arab countries. CONCLUSION: PID Maghreb patients number is very low compared to global estimates, whereas consanguinity is very high. Special attention should be given to PIDs by governments and research teams in this region.


Assuntos
Síndromes de Imunodeficiência/epidemiologia , África/epidemiologia , África do Norte/epidemiologia , Argélia/epidemiologia , Ásia/epidemiologia , Consanguinidade , Europa (Continente)/epidemiologia , Humanos , Síndromes de Imunodeficiência/genética , Incidência , Oriente Médio/epidemiologia , Marrocos/epidemiologia , Prevalência , Sistema de Registros/estatística & dados numéricos , Estatística como Assunto/normas , Tunísia/epidemiologia , Estados Unidos/epidemiologia
20.
Mediterr J Hematol Infect Dis ; 9(1): e2017057, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29181134

RESUMO

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammation caused by uncontrolled proliferation of activated lymphocytes and histiocytes. Often, HLH is an acquired syndrome. We report a case of a nine month-old-boy presented with hepatosplenomegaly, severe anemia, thrombocytopenia, hypertriglyceridemia and high hyperferritinemia. These clinical features of HLH prompted a wide range of infectious and auto-immune tests to be performed. After an extensive diagnostic workup, he was referred to the immune-hematologic unit for HLH suspicion with an unknown cause. Primary HLH due to familial lymphohistiocytosis (FLH) was first evoked in front of consanguinity, probable HLH in the family, early onset, and in the absence of a causative pathology like infection or cancer. However, functional tests were normal. Atypical features like the: absence of fever, hypotonia, recurrent diarrhea since diversification, hematuria, and proteinuria suggested an inborn metabolism error with gastrointestinal involvement. Specific tests were performed to reach a final diagnosis.

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