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1.
Encephale ; 49(1): 100-102, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35221021

RESUMO

BACKGROUND: We aimed to contribute to the current limited literature addressing quetiapine-associated thrombocytopenia. We report the case of a young man with a first episode schizophrenia who experienced thrombocytopenic purpura following the administration of quetiapine co-prescribed with valproic acid. CASE REPORT: HA is a 19-year-old single man who had no history of systemic or hematologic diseases and no personal psychiatric history. He presented with psychotic symptoms that have been continuously evolving since ten months. His psychiatrist put him on treatment with 400 mg/day of quetiapine and 1500 mg/day of valproic acid over a three-week titration. Twelve days later, the patient developed a sudden onset of thrombocytopenic purpura without fever, which resolved over two weeks after cessation of both drugs. CONCLUSION: Although uncommon and reversible, thrombocytopenia induced by quetiapine can be life-threatening. Clinicians should carefully follow-up the hematological data when prescribing quetiapine. The unnecessary use of valproic acid should be avoided as a first-line treatment for young people with first-episode schizophrenia.


Assuntos
Antipsicóticos , Púrpura Trombocitopênica , Esquizofrenia , Trombocitopenia , Masculino , Humanos , Adolescente , Adulto Jovem , Adulto , Fumarato de Quetiapina/efeitos adversos , Esquizofrenia/tratamento farmacológico , Ácido Valproico/efeitos adversos , Trombocitopenia/tratamento farmacológico , Púrpura Trombocitopênica/tratamento farmacológico , Antipsicóticos/efeitos adversos
2.
Phys Rev Lett ; 129(10): 102701, 2022 Sep 02.
Artigo em Inglês | MEDLINE | ID: mdl-36112434

RESUMO

Carbon burning is a key step in the evolution of massive stars, Type 1a supernovae and superbursts in x-ray binary systems. Determining the ^{12}C+^{12}C fusion cross section at relevant energies by extrapolation of direct measurements is challenging due to resonances at and below the Coulomb barrier. A study of the ^{24}Mg(α,α^{'})^{24}Mg reaction has identified several 0^{+} states in ^{24}Mg, close to the ^{12}C+^{12}C threshold, which predominantly decay to ^{20}Ne(ground state)+α. These states were not observed in ^{20}Ne(α,α_{0})^{20}Ne resonance scattering suggesting that they may have a dominant ^{12}C+^{12}C cluster structure. Given the very low angular momentum associated with sub-barrier fusion, these states may play a decisive role in ^{12}C+^{12}C fusion in analogy to the Hoyle state in helium burning. We present estimates of updated ^{12}C+^{12}C fusion reaction rates.

3.
RSC Adv ; 12(26): 16805-16822, 2022 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-35754884

RESUMO

In the present research, polycrystalline samples of La0.5Sm0.2Sr0.3Mn1-x Cr x O3 are prepared using the self-combustion method. Then, we have studied their crystalline structure, and dielectric and electrical properties. The X-ray diffraction study shows that all the samples exhibit a single phase with orthorhombic structure (space group Pnma). The studied samples were also characterized by complex impedance spectroscopy in a wide range of temperatures and frequency. AC conductivity analyses are used to study the transport property of the investigated samples. These analyses indicate that the conduction mechanism is strongly dependent on temperature and frequency. It is also found that the conductivity decreases with Cr concentration. Complex impedance analysis confirms the contributions of grain and grain boundaries in the conduction mechanism. Finally, the impedance spectra, characterized by the appearance of semicircle arcs at different temperatures, were well modeled in terms of equivalent electrical circuits to explain the impedance results.

5.
Ann Cardiol Angeiol (Paris) ; 69(3): 125-132, 2020 May.
Artigo em Francês | MEDLINE | ID: mdl-32331696

RESUMO

AIM: The purpose of this study was to estimate the incidence of post-acute coronary syndrome (ACS) depression and to identify predictive factors for the onset of this disorder. PATIENTS AND METHODS: We conducted a prospective, multicentric study across four cardiology departments, during the period from June to December 2018. A depressive symptom screening was performed using the Hospital Anxiety and Depression Scale, in-hospital (T0) and on average 42.1±7.9 days after hospital discharge (T1). RESULTS: A total of 110 patients were enrolled with an average age of 57±8.1 years. Sex ratio was 3.78. The incidences of depressive symptomatology at T0 and T1 were respectively 19.1% and 6.2%. Mean and cumulative incidences of depressive symptomatology were respectively 12.7% and 25.5%. According to the univariate analysis, drinking alcohol, overweight and anxiety were associated with the incidence of depressive symptomatology after SCA at T0. In binary logistic regression, drinking alcohol was the independent predictor of the incidence of depression after ACS at T0 with an odds ratio of 4.680 and CI of 95% [1.449; 15,107]; P=0.01. In univariate analysis, drinking alcohol, high risk of hospital mortality, according to the GRACE score, and non performing coronary angiography were statistically associated with the overall incidence of depressive symptomatology. CONCLUSION: Depression screening must be a part of the evaluation of the ACS. A repeated evaluation of depression is also recommended.


Assuntos
Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/psicologia , Depressão/epidemiologia , Depressão/etiologia , Idoso , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores de Risco
6.
Encephale ; 45(1): 22-26, 2019 Feb.
Artigo em Francês | MEDLINE | ID: mdl-29499848

RESUMO

OBJECTIVES: The duration of untreated psychosis is defined as the interval between the first psychotic symptoms and the first starting treatment. The duration of untreated psychosis is highly variable but often prolonged and may be influenced by several factors. Some studies suggested that duration of untreated psychosis is associated with poor outcome. The objectives of this study were to assess the duration of untreated psychosis in a Tunisian cohort and its impact on the quality of life and the cognitive functions of schizophrenic patients at 2 years. METHODS: We conducted a cross sectional study at Razi Hospital between January 2014 and June 2014 that included patients with Schizophrenia diagnosis as defined in the DSMIV-TR with regular monitoring for at least 2 years. Eligible participants are those who had been hospitalized for the first time, between January 2011 and December 2012 for a first psychotic episode. Data were collected from medical records and by interviewing the patients and their family. Duration of untreated psychosis was determined using the Symptom Onset in Schizophrenia Inventory. The quality of life was assessed by the 'Short Form-36 Health Survey' scale in its Arabic version. All patients were evaluated with 'The Tunisian Cognitive Battery' composed of 7 tests. Patient scores are expressed as 'Z scores', which represents the position of the scores in a term of standard deviation from the mean of healthy subjects established by the authors of the battery. We divided the population into two groups based on the duration of untreated psychosis median. A short duration of untreated psychosis was lower than the median, and a long duration of untreated psychosis was equal to or greater than the median. RESULTS: Our sample involved 42 patients with a mean age of 31.38 years. The average duration of untreated psychosis was 75.38 weeks with a range from 2 to 364 weeks and a median duration of 47.5 weeks. Patients with a short duration of untreated psychosis had a better quality of life with better scores for the majority of the dimensions and a significant difference in the limitations score due to the mental state (P=0.01). For cognitive function, the short duration of untreated psychosis was significantly correlated with a free recall of 'Hopkins Verbal Learning Test'. CONCLUSION: Our study suggest that the average duration of untreated psychosis in Tunisia is comparable to the one reported in the literature and that a short duration of untreated psychosis is correlated with better outcomes in terms of quality of life and verbal learning.


Assuntos
Cognição , Transtornos Psicóticos/psicologia , Qualidade de Vida , Adulto , Estudos de Coortes , Estudos Transversais , Diagnóstico Tardio , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Prognóstico , Transtornos Psicóticos/terapia , Tempo para o Tratamento , Resultado do Tratamento , Tunísia , Aprendizagem Verbal , Adulto Jovem
7.
Pathol Biol (Paris) ; 61(2): 59-63, 2013 Apr.
Artigo em Francês | MEDLINE | ID: mdl-22542428

RESUMO

Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid ß-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members.


Assuntos
Doença de Gaucher/diagnóstico , Doença de Gaucher/genética , Técnicas de Diagnóstico Molecular , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/epidemiologia , Predisposição Genética para Doença , Genótipo , Glucosilceramidase/genética , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Polimorfismo de Fragmento de Restrição/fisiologia , Tunísia/epidemiologia , Adulto Jovem
8.
Encephale ; 38(6): 480-7, 2012 Dec.
Artigo em Francês | MEDLINE | ID: mdl-23200614

RESUMO

INTRODUCTION: Burnout, or professional exhaustion syndrome, is defined as a state of emotional, mental and physical exhaustion caused by excessive and prolonged stress at work. Despite the fact that it is not a recognized disorder in the DSM-IV, burnout has been widely described among medical and paramedical staff. In Tunisia, all the studies about this syndrome have only considered populations of doctors. However, professional exhaustion syndrome is not only limited to the medical sector, but can also be seen in any profession involving a relation of help. Thus, the teaching profession seems to be concerned with this syndrome. In fact, in our clinical practice, we are increasingly confronted with teachers' suffering. The latter face increasing difficulties in their work and moreover some of them can no longer resist and thus become vulnerable to the professional exhaustion syndrome. OBJECTIVE: The aim of this study was to evaluate burnout among a population of Tunisian teachers and to examine the professional stressors associated with teachers' burnout. METHODS: Our study was a transversal study conducted over five months (from October 2009 to February 2010) and it concerned teachers working in the public high schools of Manouba (Tunisia). The participants completed a self-questionnaire dealing with professional stressors. Five types of professional stressors were identified in the literature: bad working conditions, work overload, administrative difficulties, organizational factors and difficulties with pupils and their relatives. They were also explored by the scale of the burnout: the Maslach Burnout Inventory (MBI), which is the best-studied measurement of burnout in the literature. We used the French version of the MBI adapted to educational settings. It is a scale composed of 22 items and three dimensions: emotional exhaustion (nine items), dehumanization (five items) and reduced personal accomplishment (eight items). In our study, we considered a teacher was suffering from burnout when at least two among the three dimensions of this scale were pathological. RESULTS: From the total number of teachers working in public high schools of Manouba (n=876), only 398 teachers filled in our questionnaires. Hence the rate of participation was 45.4%. The mean age of those participants was 40.04 years. 52.3% of them were women (sex ratio=0.91) and the great majority was married (81.8%). The burnout syndrome was found in 21% of those teachers: Moderate professional exhaustion was found in 16.4% of cases and severe professional exhaustion was found in 4.6%. A high emotional exhaustion was found in 27.4% of cases. A percentage of 16.1 of participants had a high dehumanization and 45.5% of them were susceptible to reduced personal accomplishment. The majority of teachers (66.4%) declared being stressed at work. The professional stressors reported by the teachers were in decreasing order of rate: bad working conditions (80.3%), overload work (75.2%), administrative difficulties (70.4%), difficulties with pupils and their relatives (64.4%) and finally organizational factors (57.1%). In our study, we found a strong association between burnout syndrome among teachers and three types of professional stressors which were: bad working conditions (p=0.0017), administrative difficulties (p=0.005) and difficulties with pupils and their relatives (p=0.005). The organizational factors and the work overload were not associated with the burnout syndrome. CONCLUSION: The job of teaching accumulates many difficulties. Some Tunisian teachers cannot tolerate this professional stress and develop a burnout. This syndrome leads to a teachers' psychological distress with the risk of an increase in absenteeism at work. So, we hope that this study will give rise to future research on stress, coping and burnout among Tunisian teachers, with theoretical aims as well as practical applications to prevent and reduce the risk of this problem.


Assuntos
Esgotamento Profissional/psicologia , Docentes , Estresse Psicológico/complicações , Adulto , Esgotamento Profissional/diagnóstico , Esgotamento Profissional/epidemiologia , Esgotamento Profissional/prevenção & controle , Estudos Transversais , Docentes/estatística & dados numéricos , Feminino , Inquéritos Epidemiológicos , Humanos , Satisfação no Emprego , Masculino , Pessoa de Meia-Idade , Relações Profissional-Família , Psicometria , Fatores de Risco , Meio Social , Inquéritos e Questionários , Tunísia , Carga de Trabalho/psicologia
9.
Encephale ; 37(1): 41-7, 2011 Feb.
Artigo em Francês | MEDLINE | ID: mdl-21349373

RESUMO

OBJECTIVE: To assess the quality of life of a population of spouses of bipolar patients compared with a control population. PATIENTS AND METHODS: We conducted a cross-sectional study which included two groups: a group of 30 spouses of patients followed for bipolar I disorder according to DSM IV criteria and a second group of 30 subjects from the general population. Both groups were matched by age, sex, marital status and socioeconomic level. This device was designed to limit the differences between the two groups solely those of the bipolar illness. Evaluating the quality of life was achieved using the quality of life scale: SF-36. This is a scale that has already been translated and validated in dialect Arabic. RESULTS: Regarding sociodemographic variables, the two study groups differed only for: recreation, friendly relations and the couple relationship that included more and better skills among the control group. In the categorical approach, the quality of life was impaired in 60% of spouses and 40% of controls with a statistically significant difference. The following standardized dimensions: mental health (D4), limitation due to mental health (D5), life and relationship with others (D6) and perceived health (D8) and mental component (CM) were significantly altered in patients' spouses compared to controls. We found significant differences between the two groups for: overall average score (51.1 vs. 68.2), mental health (D4), limitation due to mental health (D5), life and relationship with others (D6), perceived health (D8) and perceived health (D8) standards. DISCUSSION: The impairment of quality of life of bipolar patients' spouses is related to the extra responsibility, stress, financial problems and health problems, stigma, and loss of security of the person loved. CONCLUSION: Considering the consequences that the appearance of bipolar disorder on the patient's spouse may have, certain measures must be proposed to improve their quality of life.


Assuntos
Transtorno Bipolar/psicologia , Qualidade de Vida/psicologia , Cônjuges/psicologia , Adulto , Transtorno Bipolar/diagnóstico , Cuidadores/psicologia , Efeitos Psicossociais da Doença , Estudos Transversais , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Inventário de Personalidade/estatística & dados numéricos , Psicometria , Fatores Socioeconômicos , Tunísia
10.
Pathol Biol (Paris) ; 59(4): e93-6, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19896294

RESUMO

The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients.


Assuntos
Doença de Depósito de Glicogênio Tipo I/genética , Mutação/genética , Sequência de Bases , DNA/análise , Análise Mutacional de DNA , Glucose-6-Fosfatase/análise , Glucose-6-Fosfatase/genética , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Heterozigoto , Homozigoto , Humanos , Fígado/enzimologia , Fígado/patologia , Tunísia
11.
Encephale ; 35(4): 347-52, 2009 Sep.
Artigo em Francês | MEDLINE | ID: mdl-19748371

RESUMO

INTRODUCTION: Schizophrenia appears to be the mental pathology the most associated with violence. The aim of this study is to show the incidence and the different risk factors of violence among schizophrenics. MATERIAL AND METHOD: We have compared a group of 30 violent schizophrenic inpatients with another group of 30 nonviolent schizophrenic inpatients hospitalised during the same period. These two groups have been matched according to age and gender. The comparison concerned: sociodemographic parameters, family and personal psychiatric history, legal antecedents, social insertion, clinic, Clinical Global Impressions (CGI), Global Impairment Scale (GIS) and Positive And Negative Syndrome Scale (PANSS) scores for admissions, familial support and insight, compliance to treatment, administered treatments, and awareness degree. RESULTS: Violent schizophrenics represent 18.07% of all hospitalisations and 26.08% of schizophrenic patients. When compared to violent schizophrenic patients, nonviolent schizophrenic patients have a better socioeconomic level (77% versus 43%), better professional adaptation (67% versus 10%) and familial support (60% versus 10%), better insight (87% versus 23%) and therapeutic control (70% versus 17%). Differences are significant. We found significantly more personal antecedents of inflicted violence within violent schizophrenics (50% versus 13%), more addictive behavior (53% versus 13%), and more paranoid and indifferentiated forms (87% versus 47%) than in nonviolent schizophrenics. The average of CGI scores was significantly higher within violent schizophrenics (5.27+/-0.8 versus 3.77+/-0.5). Conversely, the average of EGF scores was lowest (37.6+/-6.5 versus 47.8+/-5.6). The comparison of PANSS scores revealed that violent schizophrenic subjects are characterised by the existence of more positive signs and more general symptoms (34.4+/-4.7 versus 20.2+/-4.5; 55.1+/-11.4 versus 46.1+/-6.9). Violent schizophrenics are characterised by higher neuroleptic doses (2375+/-738 mg/d versus 1610+/-434 mg/d). Differences here are also significant. DISCUSSION: Addictive behaviour seems to considerably increase the risk of turning to violence. Thus in our study, 53% of violent patients showed an addictive behaviour. These results have also been reported by other authors. It is obvious that alcohol and drug abuse double the risk of violence among schizophrenic subjects. Psychotic decompensation and rich symptomatology increase the violent potential among the schizophrenics. In our study, the PANSS scores were higher among violent subjects. Nonviolent schizophrenic subjects have a lesser symptomatology of psychiatric disorders and a better outcome as shown by the CGI and EGF scores. In our study, the group of violent subjects needed higher neuroleptic doses and were noncompliant. Compliance permits the acquisition, and then maintains, the stability of the mental status and plays an essential role in decreasing dangerousness. In fact, violent schizophrenics exhibit low insight, implying diminished awareness of the legal implications of their acts, and are little aware of their illness and its dangerousness. In our study, we noted better familial support among nonviolent subjects. According to the literature, violent schizophrenics are characterised by a particularly hostile and rejecting familial environment. CONCLUSION: Awareness of these factors will allow us to provide improved prevention of violence within schizophrenic subjects.


Assuntos
Países em Desenvolvimento , Esquizofrenia/epidemiologia , Psicologia do Esquizofrênico , Violência/estatística & dados numéricos , Adulto , Conscientização , Estudos Transversais , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Unidade Hospitalar de Psiquiatria/estatística & dados numéricos , Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Psicometria , Medição de Risco/estatística & dados numéricos , Tunísia , Violência/psicologia
12.
J Inherit Metab Dis ; 31 Suppl 2: S199-204, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18679824

RESUMO

OBJECTIVE: Analysis of epidemiological data concerning GSD I in Tunisia. SUBJECTS AND METHODS: All the cases diagnosed as GSD I between 1992 and 2005 in a paediatric department recruiting all the metabolic diseases referred from the North of Tunisia were reviewed. Individual data (sex, socioeconomic and educational background, geographic origins, insurance coverage) were collected and pedigrees were reconstituted. RESULTS: Twenty-two cases (9 boys and 13 girls from 20 homes) were identified. Fourteen belonged to 11 families originating from the North of Tunisia; ten of them are still alive. Both parents in 4 homes (21%) and one parent in 9 homes (47%) were illiterate. Most of the homes (60%) had a low income and 45% comprised at least 3 children. Only 7 homes (35%) had health insurance. Pedigrees indicated 44 infant deaths and at least 10 other cases fulfilling the clinical features of GSD I but not diagnosed. CONCLUSION: The paediatric prevalence of GSD I in the North of Tunisia can be estimated to 7.93 cases per one million inhabitants and its incidence to 1/100,000 births. However, it is likely to be more frequent because of underreporting or underdiagnosis leading to precocious deaths.


Assuntos
Doença de Depósito de Glicogênio Tipo I/epidemiologia , Adolescente , Criança , Pré-Escolar , Diagnóstico Precoce , Feminino , Predisposição Genética para Doença , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Doença de Depósito de Glicogênio Tipo I/genética , Doença de Depósito de Glicogênio Tipo I/mortalidade , Humanos , Incidência , Lactente , Mortalidade Infantil , Recém-Nascido , Masculino , Linhagem , Valor Preditivo dos Testes , Prevalência , Características de Residência , Estudos Retrospectivos , Fatores Socioeconômicos , Fatores de Tempo , Tunísia/epidemiologia
13.
J Inherit Metab Dis ; 30(6): 989, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18008183

RESUMO

Glycogen storage disease type Ia (GSD Ia; OMIM 232200) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the microsomal glucose-6-phosphatase (G6Pase). It is characterized by short stature, hepatomegaly, hypoglycaemia, hyperuricaemia, and lactic acidaemia. Various mutations have been reported in the G6Pase gene (G6PC). In order to determine the mutation spectrum in Tunisia, we performed mutation analysis in 22 Tunisian type I glycogen storage disease (GSD I) patients belonging to 18 unrelated families. All patients were clinically classified as GSD Ia. The R83C mutation was found to be the major cause of GSD Ia, accounting for 24 of 36 mutant alleles (66.6%), The R170Q mutation was the second most frequent mutation; it accounts for 10 of 36 mutant alleles (27.7%). The R83C and R170Q mutations could be rapidly detected by PCR/RFLP. Since the majority of Tunisian patients carried R83C and/or R170Q mutations, we propose direct screening of these mutations as a rapid, valuable and noninvasive tool for diagnosis of GSD Ia in Tunisian as well as in Northern African populations.


Assuntos
Análise Mutacional de DNA/métodos , Glucose-6-Fosfatase/genética , Doença de Depósito de Glicogênio Tipo I/diagnóstico , Doença de Depósito de Glicogênio Tipo I/genética , Alelos , Humanos , Mutação , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Tunísia
14.
Arch Inst Pasteur Tunis ; 84(1-4): 65-70, 2007.
Artigo em Francês | MEDLINE | ID: mdl-19388585

RESUMO

Gaucher disease is the most common lysosomal storage disorder, it results from the inherited deficiency of the enzyme glucocerebrosidase, the accumulation of its substrate causes many clinical manifestations. Since the discovery of GBA gene, more than 200 different mutations have been identified, but only handful mutations are recurrent (N370S, L444P and c.84insG). In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in ten unrelated Tunisian children with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing, has shown that N370S is the most frequent mutation (6/20 mutant alleles, 30%), followed by recombinant allele (RecNciI) which is found in five patients (5/20 mutant alleles, 25%), the L444P mutation represent 20% (4/20 mutant alleles). Our findings revealed that five among ten studied patients, were compound heterozygous N370S/RecNciI (50%). The screening of these mutations provides a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allows also genetic counselling for their family members.


Assuntos
Doença de Gaucher , Frequência do Gene/genética , Mutação/genética , Adolescente , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Eletroforese em Gel de Poliacrilamida , Éxons/genética , Feminino , Doença de Gaucher/epidemiologia , Doença de Gaucher/genética , Triagem de Portadores Genéticos , Aconselhamento Genético , Testes Genéticos , Genética Populacional , Heterozigoto , Humanos , Masculino , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Tunísia/epidemiologia
15.
Transfus Clin Biol ; 4(2): 221-6, 1997.
Artigo em Francês | MEDLINE | ID: mdl-9162428

RESUMO

Antibodies to Hepatitis C virus (HCV) were tested in 43000 Tunisian blood donors by using enzyme immuno-assay. Our results show that 0.7% (304/43000) were anti-HVC positive. Of these 304.78 were confirmed anti-HCV positive (0.18%) by immuno-blot, and 99 displayed an indeterminate profile. Different immune responses were observed: In donors with positive serologic pattern (78/304), 25.6% response towards whole antigens (C + NS3 + NS4 + NS5) was frequently observed (44/78) 56.4%. Reactivity to 2 antigens was observed in 28.2% (22/78) and with 3 antigens in only 15.4% (12/78), with systematic reactivity to core. In donors with indeterminate serologic pattern (99/304) 32.5%, reactivity to non-structural antigen NS5 was the most frequently observed (54/99) 54.5%, reactivity to non-structural NS3 antigen was noted in 27.3% (27/99) and to core antigen in 18.2% (18/99). No donors with isolated reactivity to NS4 were observed in our series.


Assuntos
Doadores de Sangue , Anticorpos Anti-Hepatite C/sangue , Hepatite C/epidemiologia , Adolescente , Adulto , Feminino , Humanos , Immunoblotting , Técnicas Imunoenzimáticas , Masculino , Pessoa de Meia-Idade , Prevalência , Reprodutibilidade dos Testes , Tunísia
16.
J Pharm Belg ; 52(5): 177-80, 1997.
Artigo em Francês | MEDLINE | ID: mdl-9432525

RESUMO

A human recombinant erythropoietin is produced by transfection of a human EBV immortalised lymphoblastoid cell line by human erythropoietin gene. This cell line was selected because it is eucaryotic, human, able to grow in suspension and neither clonogenic nor tumorigenic. Purification of erythropoietin from culture supernatants of lymphoblastoid cells was described and structural, biochemical and functional characteristics were investigated in several studies. Results obtained for this kind of recombinant erythropoietin were similar to those obtained regarding the protein expressed in CHO cells suggesting that both molecules have the same efficiency in clinical applications.


Assuntos
Eritropoetina/farmacologia , Anemia/tratamento farmacológico , Linhagem Celular , Eritropoetina/uso terapêutico , Humanos , Proteínas Recombinantes
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