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2.
Med Mycol Case Rep ; 27: 68-71, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32082981

RESUMEN

Saksenaea vasiformis is a species of the order Mucorales rarely reported as a cause of human mucormycosis. We report an unusual case of S. vasiformis otitis occurring in a diabetic woman after penetration of an insect in the right ear. Direct microscopic examination of the clinical sample showed hyaline and non septate hyphae belonging to the order Mucorales. Fungal identification was performed by sequencing the ITS region of the rDNA. To our knowledge, this is the first report of S. vasiformis infection in Tunisia.

3.
Bull Soc Pathol Exot ; 112(2): 71-78, 2019.
Artículo en Francés | MEDLINE | ID: mdl-31478620

RESUMEN

Spondylodiscitis is a common but potentially serious form of extra-pulmonary tuberculosis. Very few descriptions are known from Tunisia. We have conducted a retrospective study including 60 cases of spinal tuberculosis, performed over a period of 20 years (1996-2016). The diagnosis was retained on bacteriological, radiological and anatomopathologic evidence. Sixty cases including 31 women and 29 men of spinal tuberculosis were involved. The mean age was 54.4 ±â€…21.3 years. The delay from onset to diagnosis was 6 months (1-14). Lumbar region was the most common infection site (68%). The magnetic resonance imaging has confirmed spinal infection in all cases. The percutaneous image guided spinal biopsy was conclusive in 24/42 cases (57.1%). All patients were put under anti-tuberculosis treatment with total treatment duration of 14 months. Fourteen patients underwent surgical act. The outcome was favorable in 42 cases (7%). Advanced age ≥ 65 years (P = 0.026), radiological evidence of spinal cord compression (P = 0.033) or abscess (P = 0.024), hyperleucocytosis higher than 11,500 elements/mm3 (0.031), or fractures on bone imaging (P = 0.018) and vertebral deformity (P < 0.001) were strongly linked to a bad outcome. Early diagnosis and treatment onset may ensure better outcomes and reduce neurological complications and vertebral deformity.


La spondylodiscite est une forme fréquente et potentiellement grave de tuberculose extrapulmonaire. Elle n'a été que peu décrite en Tunisie. Nous avons mené une étude rétrospective portant sur 60 cas de spondylodiscite tuberculeuse (SPDT) colligés sur une période de 20 ans (1996­2016) dans un centre hospitalier universitaire au nord de la Tunisie. Le diagnostic a été retenu sur des preuves bactériologiques, anatomopathologiques et radiologiques. Il s'agit de 31 femmes et de 29 hommes âgés en moyenne de 54,4 ±â€…21,3 ans. Le délai moyen de diagnostic était de six mois (1­14 mois). L'étage lombaire était le plus touché (68 %). L'imagerie par résonance magnétique était évocatrice du diagnostic dans tous les cas. La ponction-biopsie discovertébrale a permis de porter le diagnostic dans 24/42 cas (57,1 %), fondé sur des preuves histologiques. Tous les patients ont reçu un traitement antituberculeux d'une durée moyenne de 14 mois, associé à un geste interventionnel dans 14 cas. L'évolution était favorable dans 42 cas (70 %). Les facteurs de mauvais pronostic étaient l'âge avancé de plus de 65 ans (p = 0,026), la présence de signes radiologiques de compression médullaire (p = 0,033) ou d'abcès paravertébral (p = 0,024), l'hyperleucocytose initiale supérieure ou égale à 11 500 éléments/mm3 (p = 0,031), la présence de fracture vertébrale (p = 0,018) et d'une déformation vertébrale (p < 0,001). La SPDT est une maladie insidieuse dont le diagnostic et le traitement précoces sont la clé pour éviter les complications neurologiques et ostéoarticulaires.


Asunto(s)
Discitis/diagnóstico , Discitis/epidemiología , Tuberculosis de la Columna Vertebral/diagnóstico , Tuberculosis de la Columna Vertebral/epidemiología , Adulto , Anciano , Antituberculosos/uso terapéutico , Estudios de Cohortes , Discitis/tratamiento farmacológico , Discitis/microbiología , Femenino , Fracturas Óseas/diagnóstico , Fracturas Óseas/epidemiología , Fracturas Óseas/microbiología , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento , Tuberculosis de la Columna Vertebral/tratamiento farmacológico , Túnez/epidemiología
4.
Transfus Clin Biol ; 26(4): 266-272, 2019 Nov.
Artículo en Francés | MEDLINE | ID: mdl-30827792

RESUMEN

OBJECTIVES: Human Platelet Antigens (HPA) are of considerable interest in obstetric transfusion medicine and anthropological genetics. This study aims to provide clinicians with a detailed database of HPA antigenic variants, which allows them to estimate the probability of allo-immunisation of each antigen. In addition, it aims to make an interethnic comparison of the Tunisian population with other populations. METHODS: The target population consists of 324 healthy and unrelated Tunisian blood donors recruited from the National Blood Transfusion Center in Tunis. DNA extraction was performed by the Salting Out method and molecular genotyping was performed by the PCR-SSP technique. The statistical analysis was performed using two approaches: manual calculation and computerized calculation. Phylogenetic trees were constructed through the use of Standard Genetic Distances that were calculated from allelic frequencies. RESULTS: With the exception of the HPA-4 system, statistical analysis showed that all HPA systems are polymorphic especially the two systems HPA-3 and HPA-15. The inter-ethnic analysis showed that Tunisians are closer to North Africans and Caucasians than Sub-Saharan and Asian populations, which shows genetic mixing between Tunisians, Arabs, Europeans and Africans. CONCLUSION: The results of this study could be exploited to prepare a ready-to-use genotyping plate dedicated to HPA antigens, with the aim of ensuring better management, especially for polytransfused patients.


Asunto(s)
Antígenos de Plaqueta Humana/genética , Etnicidad/genética , Polimorfismo Genético , Árabes/genética , Población Negra/genética , Frecuencia de los Genes , Humanos , Trombocitopenia Neonatal Aloinmune/epidemiología , Trombocitopenia Neonatal Aloinmune/genética , Túnez , Población Blanca/genética
5.
Plant Biol (Stuttg) ; 20(6): 995-1004, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30098088

RESUMEN

Mediterranean tomato landraces adapted to arid environments represent an option to counteract drought, and to address the complexity of responses to water deficit and recovery, which is a crucial component of plant adaptation mechanisms. We investigated physiological, biochemical and molecular responses of two Mediterranean tomato landraces, 'Locale di Salina' (Lc) and 'Pizzutello di Sciacca' (Pz) under two dehydration periods and intermediate rehydration in greenhouse pot experiments. Relationship between CO2 assimilation (A) and stomatal conductance under severe water stress (gs  < 0.05 mol·m-2 ·s-1 ) indicated the occurrence of stomatal and non-stomatal limitations of photosynthesis. Gas exchange promptly recovered within 2-3 days of rehydration. ABA and gs showed a strict exponential relationship. Both leaf ABA and proline peaked under severe water stress. Lc showed higher accumulation of ABA and higher induction of the expression of both NCED and P5CS genes than Pz. Poly(ADP-ribose) polymerase increased during imposition of stress, mainly in Lc, and decreased under severe water stress. The two landraces hardly differed in their physiological performance. Under severe water stress, gs showed low sensitivity to ABA, which instead controlled stomatal closure under moderate water stress (gs  > 0.15 mol·m-2 ·s-1 ). The prompt recovery after rehydration of both landraces confirmed their drought-tolerant behaviour. Differences between the two landraces were instead observed at biochemical and molecular levels.


Asunto(s)
Solanum lycopersicum/fisiología , Ácido Abscísico/metabolismo , Dióxido de Carbono/metabolismo , Clorofila/metabolismo , Clorofila A , Deshidratación , Fluorescencia , Solanum lycopersicum/genética , Solanum lycopersicum/metabolismo , Región Mediterránea , Fotosíntesis , Reguladores del Crecimiento de las Plantas/metabolismo , Hojas de la Planta/metabolismo , Hojas de la Planta/fisiología , Estomas de Plantas/fisiología , Poli(ADP-Ribosa) Polimerasas/metabolismo , Reacción en Cadena de la Polimerasa , Prolina/metabolismo
6.
Med Sante Trop ; 27(3): 310-314, 2017 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-28947409

RESUMEN

To study the prevalence and epidemiological factors of cutaneous leishmaniasis in Algeria from 2008 through 2011. The endemic site of M'Sila is the most important in Algeria after the historic site of Biskra, but the disease has spread rapidly and created new and important sites of infection, including Batna, Bechar, El Oued and Ghardaïa. The increased number of cases and the spread of this zoonosis require increased surveillance of its evolution and the application of adequate control measures.


Asunto(s)
Leishmaniasis Cutánea/epidemiología , Adolescente , Adulto , Argelia/epidemiología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Retrospectivos , Factores de Tiempo , Adulto Joven
7.
Rev Laryngol Otol Rhinol (Bord) ; 136(4): 149-53, 2015.
Artículo en Francés | MEDLINE | ID: mdl-29400036

RESUMEN

Introduction: Endoscopic sinus surgery has become the treatment of choice in the surgical management of patients with nasal polyposis. The aim of our study is to identify the role of some epidemiological, clinical and therapeutic factors in recurrence after surgery of nasal polyposis. Materials and methods: We conducted a retrospective study over a period of 11 years (between 2000 and 2010) including 184 patients operated for nasal polyposis after failure of prolonged medical treatment. We evaluated the impact of epidemiological and clinical factors (age, sex, asthma, Widal disease, allergy and stage of nasal polyposis at the time of surgery) and treatment (surgical technique, observance of postoperative topical steroids ) on postoperative recurrence. Results: Nasal poly­posis recurred in 26.6% of patients after an average period of 23 months. Widal disease, asthma and bad observance of the intranasal steroid therapy were significantly associated with postoperative recurrence in the univariate analysis. In multi­variate analysis the bad observance of the intranasal steroid therapy was the only factor significantly associated with recurren­ce. Conclusion: Postoperative steroids prescribed routi­nely in our practice can effectively prevent recurrence after endonasal surgery and this result was found in both uni­variate and multivariate analysis.


Asunto(s)
Pólipos Nasales/cirugía , Adolescente , Adulto , Anciano , Asma/epidemiología , Niño , Femenino , Estudios de Seguimiento , Glucocorticoides/uso terapéutico , Humanos , Masculino , Persona de Mediana Edad , Cooperación del Paciente , Cuidados Posoperatorios , Recurrencia , Estudios Retrospectivos , Túnez/epidemiología , Adulto Joven
8.
Dis Esophagus ; 26(8): 782-7, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-22947106

RESUMEN

The physiopathology of idiopathic achalasia is still unknown. The description of circulating antimyenteric autoantibodies (CAA), directed against enteric neurons in sera of patients, suggests an autoimmune process. Recent data showed controversies according to the existence and the significance of CAA. The aims of this study were to investigate whether CAA are detected in Tunisian patients with idiopathic achalasia and to look for associated clinical or manometrical factors with CAA positivity. Twenty-seven patients with idiopathic achalasia and 57 healthy controls were prospectively studied. CAA were assessed by indirect immunofluorescence on intestinal monkey tissue sections. Western blot on primate cerebellum protein extract and dot technique with highly purified recombinant neuronal antigens (Hu, Ri, and Yo) were further used to analyze target antigens of CAA. CAA were significantly increased in achalasia patients compared with controls when considering nuclear or cytoplasmic fluorescence patterns. (33% vs. 12%, P = 0.03 and 48% vs. 23%, P = 0.001 respectively). By immunoblot analysis, CAA did not target neuronal antigens, however 52/53 and 49 kDa bands were consistently detected. CAA positivity was not correlated to specific clinical features. The results are along with previous studies demonstrating high CAA prevalence in achalasia patients. When reviewing technical protocols and interpretation criteria, several discrepancies which could explain controversies between studies were noted.


Asunto(s)
Autoanticuerpos/inmunología , Acalasia del Esófago/inmunología , Esfínter Esofágico Inferior/inervación , Ganglios Autónomos/inmunología , Plexo Mientérico/inmunología , Adulto , Estudios de Casos y Controles , Acalasia del Esófago/fisiopatología , Esfínter Esofágico Inferior/fisiopatología , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Humanos , Masculino , Manometría , Persona de Mediana Edad , Adulto Joven
9.
Transfus Clin Biol ; 19(2): 60-3, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22512913

RESUMEN

PURPOSE OF THE STUDY: The importance of human neutrophil antigens (HNA) in immunogenetics and their involvement in hematologic diseases have accelerated the elucidation of their molecular basis and their allele frequencies distribution has been described in many populations over the world. In this study, our aim was to evaluate the frequency of FCGR3B alleles encoding HNA-1a, 1b and 1c among Tunisians of sub-Saharan origin and to compare them to Tunisian blood donors and to a group from sub-Saharan Africa. PATIENTS AND METHODS: We typed the DNA of 106 individuals (62 Tunisians of sub-Saharan origin, 33 Tunisian blood donors and 11 from sub-Saharan Africa) for the three FCGR3B alleles by polymerase chain reaction using sequence specific primer (PCR-SSP). RESULTS: FCGR3B*1, FCGR3B*2 and FCGR3B*3 allele frequencies were respectively 0.347, 0.573 and 0.080 among Tunisians of sub-Saharan origin, 0.379, 0.591 and 0.030 among Tunisian blood donors and 0.318, 0.546 and 0.136 among the group from sub-Saharan Africa. CONCLUSION: These allele frequencies were similar to those previously reported in other black and white populations. The frequencies found in the two Tunisian groups confirm the intermixing origin from Europe, sub-Africa and Asia of the Tunisian population. Our results provide a database for future studies of the HNA system and associated diseases in Tunisia.


Asunto(s)
Polimorfismo Genético , Receptores de IgG/genética , Adulto , África del Sur del Sahara/etnología , Alelos , Asia/etnología , Donantes de Sangre , ADN/genética , Europa (Continente)/etnología , Femenino , Proteínas Ligadas a GPI/genética , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Neutrófilos/inmunología , Reacción en Cadena de la Polimerasa , Túnez
10.
Artículo en Inglés | MEDLINE | ID: mdl-22364868

RESUMEN

INTRODUCTION: Ramsay Hunt syndrome is a viral infection that combines facial palsy and pinnal vesicular rash. OBJECTIVES: To detail diagnostic criteria, treatment and prognosis in Ramsay Hunt syndrome. PATIENTS AND METHODS: A retrospective study of 15 patients with Ramsay Hunt syndrome admitted to the ENT department of La Rabta Hospital (Tunis) from 2003 to 2009. RESULTS: The main presenting symptom was facial palsy associated with conchal vesicular rash. House-Brackmann classification of facial nerve function ranged from III to V. All patients were treated with acyclovir and corticosteroids. Mean follow-up was 8 months. Ten patients showed improvement in facial palsy, four had permanent palsy and one moved from grade IV to grade III. CONCLUSION: Ramsay Hunt syndrome involves severe dysfunction, with poorer facial nerve prognosis than in Bell's palsy.


Asunto(s)
Herpes Zóster Ótico , Adolescente , Adulto , Anciano , Niño , Femenino , Herpes Zóster Ótico/diagnóstico , Herpes Zóster Ótico/tratamiento farmacológico , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Adulto Joven
11.
Eur Ann Otorhinolaryngol Head Neck Dis ; 129(3): 141-7, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22321911

RESUMEN

OBJECTIVES: To define the epidemiological and clinical features and complementary investigation findings of extranodal NK/T-cell lymphoma, nasal type and to discuss the diagnostic difficulties and the various treatment options. PATIENTS AND METHODS: This retrospective study was based on 15 patients with extranodal NK/T-cell lymphoma, nasal type, managed between 1990 and 2009. RESULTS: This series comprised 13 men and two women (sex ratio=6.5) with a mean age of 52 years (range: 35-81 years). The mean time to first consultation was 6 months. The most common symptoms were nasal obstruction (87%) and purulent nasal discharge (73%), followed by epistaxis (60%). Physical examination demonstrated the presence of a tumour of the nasal cavity in 11 patients. The diagnosis was confirmed by histological examination of a biopsy completed by immunohistochemistry. CT scan of the facial bones was performed in all patients of this series. The site of extranodal NK/T-cell lymphoma was essentially nasal (12 cases). Orbital extension was observed in four cases, associated with intracranial extension in two cases and osteolysis was observed in 11 patients. Lymphomas were classified as stage IE in 74% of cases and stage IIE in 26% of cases. Only one patient was lost to follow-up during treatment. Three patients died before any treatment. Treatment therefore concerned 12 patients. Stage IE lymphomas were treated by radiotherapy and/or chemotherapy. All stage IIE lymphomas were treated by chemotherapy alone. Stage IE patients had a better prognosis. CONCLUSION: Extranodal NK/T-cell lymphoma, nasal type, is an aggressive form of non-Hodgkin's lymphoma comprising specific clinicopathological characteristics. The addition of chemotherapy for advanced stages does not appear to improve survival compared radiotherapy alone, which remains the treatment of choice especially for localized stages.


Asunto(s)
Linfoma Extranodal de Células NK-T/diagnóstico , Linfoma Extranodal de Células NK-T/terapia , Neoplasias Nasales/diagnóstico , Neoplasias Nasales/terapia , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Quimioradioterapia , Estudios Transversales , Diagnóstico Diferencial , Quimioterapia , Femenino , Humanos , Linfoma Extranodal de Células NK-T/mortalidad , Linfoma Extranodal de Células NK-T/patología , Masculino , Persona de Mediana Edad , Invasividad Neoplásica/patología , Estadificación de Neoplasias , Neoplasias Nasales/mortalidad , Neoplasias Nasales/patología , Órbita/patología , Senos Paranasales/patología , Radioterapia , Estudios Retrospectivos , Tasa de Supervivencia , Tomografía Computarizada por Rayos X
12.
Rev Stomatol Chir Maxillofac ; 112(3): 151-4, 2011 Jun.
Artículo en Francés | MEDLINE | ID: mdl-21507445

RESUMEN

INTRODUCTION: Nasolabial cysts (NLC) are a rare condition presenting as cystic epithelial lesion. We report the clinical and radiological (CT scan) aspects of this rare clinical entity and we assess the various available surgical treatment. PATIENTS AND METHODS: Fifty-four patients presenting with NLC underwent surgery between 2000 and 2009. The diagnosis was made on clinical and radiological arguments and confirmed by histological examination after surgical excision. The studied parameters were: gender, functional signs having led to consultation, localization, results of radiological exploration, treatment modalities, anatomopathology and postoperative evolution. RESULTS: The average age of the 30 men and 24 women was 38 years with extremes ranging between 24 and 53 years. The reason for consultation was swelling of the anterior nasal floor in every case and a nasal obstruction for 33 patients. The average time between initial swelling and consultation was 18 months. Swelling was unilateral for 52 patients. CT scan was prescribed for 20 patients and revealed a cystic mass with an average diameter of 23 mm. Cyst excision was made under general anesthesia in every case. Most of the patients (52) were operated via a vestibular approach. Histological examination confirmed the diagnosis of nasolabial cyst in every case. DISCUSSION: NLC is a rare condition which must be suggested when a cystic mass is found in the anterior nasal floor. CT scan confirms the diagnosis and cyst extension. Cyst excision is performed by vestibular approach. The endoscopic marsupialization is an interesting new therapeutic alternative.


Asunto(s)
Enfermedades de los Labios/diagnóstico , Quistes no Odontogénicos/diagnóstico , Enfermedades Nasales/diagnóstico , Adulto , Diagnóstico Diferencial , Endoscopía/métodos , Epitelio/patología , Femenino , Estudios de Seguimiento , Humanos , Enfermedades de los Labios/patología , Enfermedades de los Labios/cirugía , Masculino , Persona de Mediana Edad , Cavidad Nasal/patología , Mucosa Nasal/patología , Obstrucción Nasal/diagnóstico , Quistes no Odontogénicos/patología , Quistes no Odontogénicos/cirugía , Enfermedades Nasales/patología , Enfermedades Nasales/cirugía , Factores Sexuales , Factores de Tiempo , Tomografía Computarizada por Rayos X/métodos , Adulto Joven
13.
Eur Ann Otorhinolaryngol Head Neck Dis ; 128(4): 159-64, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21429836

RESUMEN

OBJECTIVES: The aim of the present study was to evaluate our technique of thyroid fine-needle aspiration cytology (FNAC), its limitations and means of improvement by comparing our results with those of literature. MATERIAL AND METHODS: Thyroid FNAC results from 117 consecutive patients (May 2006 to July 2007) were categorized into four groups: benign, with suspected malignancy, malignant and unrepresentative. The FNAC results were compared with histopathologic analysis after thyroidectomy. RESULTS: All "benign" and "malignant" FNAC findings were confirmed on final histology. All "suspect" FNAC findings were benign on histology. Cytological diagnosis of malignancy was consistent with histological examination in all cases. Sensitivity was 100% (no false negatives), specificity 67% (28% false positives), positive predictive value 72% and negative predictive value 100%. There was a significant difference in the proportion of "unrepresentative" results between two of the operators performing aspiration (51% versus 29.2%). CONCLUSIONS: The main pitfall of FNAC in thyroid pathology is the "suspect" category, for which positive diagnosis is founded on histological criteria alone. The second limitation identified in this study was the high number of "unrepresentative" aspirates. However, the technique remains useful.


Asunto(s)
Nódulo Tiroideo/patología , Biopsia con Aguja Fina , Humanos , Estudios Prospectivos
14.
J Eur Acad Dermatol Venereol ; 25(10): 1160-7, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21198951

RESUMEN

BACKGROUND: Pemphigus vegetans (P Veg) is a rare clinical form of pemphigus. Studies on P Veg are rare in the literature and none has so far evaluated the prognostic parameters. OBJECTIVE: In this retrospective study of P Veg, we aimed to analyse epidemiological, clinical, immunopathological and therapeutic data. Study of prognostic factors with accuracy of patient survival was also carried out. METHODS: This is a retrospective study (1981-2009) including 17 cases of P Veg. Statistical analysis was performed with chi-square and Fisher tests looking for a possible relationship between clinical data and prognostic factors. Follow-up time and disease-free survival time were estimated using Kaplan-Meier methods. Clinical data were evaluated in univariate analysis looking for a significant association with survival. Equality of survival distribution was studied using log rank test. RESULTS: The hospital prevalence of P Veg was 0.084‰ with a frequency of 9.1% among pemphigus. The mean age at onset was 47.6 years, with a sex-ratio (F/M) about 4.66. Neumann P Veg was the predominant clinical form (11/17). Clinically, the lesions were multifocal (16/17), prevailed on folds and mucous membranes. Under corticosteroids the mean period for healing was 24 ± 9 days. During the follow-up time, three patients died and 11 patients relapsed. Median of overall relapse-free survival was 13 ± 1.7 months. No significant association between clinical data and prognostic factors was found. LIMITATIONS: This study was a retrospective chart analysis and the number of patients was small. CONCLUSION: The P Veg seems to be more frequent in Tunisia with high rate of mortality.


Asunto(s)
Pénfigo/inmunología , Pénfigo/patología , Corticoesteroides/uso terapéutico , Adulto , Anciano , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Pénfigo/tratamiento farmacológico , Prevalencia , Pronóstico , Estudios Retrospectivos , Túnez
15.
Tissue Antigens ; 77(1): 68-73, 2011 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-21155722

RESUMEN

Platelet endothelial cell adhesion molecule 1 (PECAM-1/CD31) is one of the human minor histocompatibility antigens that are the main targets of alloreactive T-cells after hematopoietic stem cells or solid organs transplantation. In order to investigate its polymorphism in Tunisians, three single nucleotide polymorphisms (SNPs) (rs668, rs12953 and rs1131012) were selected to perform an allele and haplotype analysis. Hundred-and-forty-two healthy and unrelated subjects were enrolled in this survey. Genomic DNAs were extracted using salting out method. SNP genotyping assays were performed with home-designed sequence-specific primers polymerase chain reaction (SSP-PCR). As a result, molecular analysis showed that PECAM-1 is one of the most polymorphic markers in the Tunisian population because minor allele frequency was 0.3, and minimum haplotype frequency was 0.03. A low linkage disequilibrium (D' = 0.45) between rs12953 and rs1131012 was noticed, although all other loci were in the Hardy-Weinberg equilibrium (minimum P value = 0.07). The frequencies were close to those reported in African-American and Caucasian groups.


Asunto(s)
Biomarcadores , Antígenos de Histocompatibilidad Menor/genética , Molécula-1 de Adhesión Celular Endotelial de Plaqueta/genética , Polimorfismo de Nucleótido Simple , Frecuencia de los Genes , Estudios de Asociación Genética , Humanos , Túnez
16.
Ann Hum Biol ; 38(2): 156-64, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20666704

RESUMEN

BACKGROUND: The HLA polymorphism is a powerful genetic tool to study population origins. By analysing allele frequencies and haplotypes in different populations, it is possible to identify ethnic groups and establish the genetic relationships among them. AIM: The Berber (endogenous Tunisians) HLA class I and class II genotypes were analysed and compared with those of Mediterranean and Sub-Saharan African communities using genetic distances, Neighbour-Joining dendrograms, correspondence and haplotype analysis. SUBJECTS AND METHODS: One hundred and five unrelated Berbers were typed for HLA class I (A, B) and class II (DRB1, DQB1) gene alleles using reverse dot-blot hybridization. RESULTS: High frequencies of A*0201 (24.76%), A*3402 (22.38%) and B*44 (32.85%) alleles were recorded for Berbers, the highest recorded for Mediterranean and North African populations. This study shows a close relatedness of Tunisian Berbers to other Tunisians, North Africans and Iberians. CONCLUSION: The apparent relatedness of Tunisian Berbers to present-day (North African) Tunisians, Algerians and Moroccans suggests that the Arab invasion of North Africa (7(th)-11(th) centuries AD) did not significantly impact the genetic makeup of North Africans. Furthermore, Tunisian Berbers appear to be closely related to Iberians (Spaniards and Basques), indicating that the 7(th) century AD gene flow of invaders was low in Iberians and that the main part of their genetic pool came after the Northward Saharan migration, when hyper-arid conditions were established in Sahara (before 6000 BC). Other studied populations belong to the old Mediterranean substratum, which has been present in the area since pre-Neolithic times. This study indicates a higher proportion of Iberian than Arab ancestry in Tunisian Berbers, which is of value in evaluating the evolutionary history of present-day Tunisians. Greeks seem to share genetic HLA features (Chr 6) with Sub-Saharans. The relatedness of Greeks to Sub-Saharans has been confirmed by other studies based on chromosome 7 genetic markers.


Asunto(s)
Etnicidad/genética , Frecuencia de los Genes , Genes MHC Clase II , Genes MHC Clase I , Polimorfismo Genético , África del Sur del Sahara , Alelos , Flujo Genético , Marcadores Genéticos , Haplotipos , Humanos , Desequilibrio de Ligamiento , Región Mediterránea , Túnez
17.
J Eur Acad Dermatol Venereol ; 25(7): 774-81, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21029209

RESUMEN

BACKGROUND: Pemphigus is a life-threatening autoimmune blistering disease mediated by autoantibodies against adhesion molecule of the skin. Its concurrence with systemic and organ-specific autoimmune disease was described in case reports. OBJECTIVES: To evaluate the presence of a broad spectrum of organ-specific and non-organ-specific autoantibodies other than anti-desmoglein antibodies in pemphigus patients. PATIENTS AND METHODS: Serum samples were obtained from 105 pemphigus foliaceus (PF) patients, 51 pemphigus vulgaris (PV) patients and 50 controls. Both indirect immunofluorescence assay and ELISA were used to assess the presence of autoantibodies related to connective tissue diseases, autoimmune hepatitis, vasculitis, rheumatoid arthritis, coeliac disease, diabetes and thyroiditis. RESULTS: Significant difference was observed between the three groups for anti-thyroglobulin antibodies in the pemphigus foliaceus group (18% vs. 4%, P=0.03). A significantly higher occurrence of IgM anti-cardiolipin (P=0.03), IgG anti-reticulin (P=0.01) and IgG anti-gliadin antibodies (P=0.008) were observed in the PV group. Cases with more than four autoantibodies were frequently positives for both anti-desmoglein 1 and anti-desmoglein 3. CONCLUSION: Autoantibodies other than anti-desmoglein antibodies are not rare in pemphigus patients. Clinical and serological follow-up of pemphigus patients with positive autoantibodies are needed to clarify their impact in disease evolution.


Asunto(s)
Autoanticuerpos/sangre , Desmogleínas/inmunología , Pénfigo/inmunología , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Ensayo de Inmunoadsorción Enzimática , Femenino , Técnica del Anticuerpo Fluorescente , Humanos , Masculino , Persona de Mediana Edad , Pénfigo/sangre , Radioinmunoensayo , Estudios Seroepidemiológicos
18.
Rev Stomatol Chir Maxillofac ; 111(5-6): 337-9, 2010.
Artículo en Francés | MEDLINE | ID: mdl-20817224

RESUMEN

UNLABELLED: Juvenile xanthogranuloma (JXG) is a cutaneous non-Langerhans cell histiocytosis affecting infants. We report the first case of JXG in the parotid gland of an adult. CLINICAL CASE: A 52 year-old man consulted for a painful swelling of the left parotid region, progressively increasing. On physical examination, the mass was 4 cm in diameter. A second 1.5 cm diameter tumor was found in the right parotid region. MRI revealed masses with heterogeneous hypodense on T1-weighted images and with hyper dense on T2 weighted images associated with heterogeneous enhancement after gadolinium injection. The superficial and deep lobes of the parotid gland were involved. Per-operative left-side exploration revealed a lipomatous degeneration of the parotid gland and facial nerve. A lower polar parotidectomy was performed. The histological examination identified a parotid xanthogranuloma. DISCUSSION: The JXG is usually revealed by cutaneous lesions. In fact, the morphological, immunohistochemical, and ultrastructural features of this affection lead to its diagnosis. Extra-cutaneous localizations are less frequent. The differential diagnosis is X histiocytosis.


Asunto(s)
Enfermedades de las Parótidas/diagnóstico , Xantogranuloma Juvenil/diagnóstico , Antígenos CD/análisis , Antígenos de Diferenciación Mielomonocítica/análisis , Medios de Contraste , Diagnóstico Diferencial , Gadolinio , Humanos , Aumento de la Imagen , Macrófagos/patología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades de las Parótidas/patología , Vimentina/análisis , Xantogranuloma Juvenil/patología
20.
Tissue Antigens ; 75(6): 720-3, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20136770

RESUMEN

Minor histocompatibility antigens (MiHAgs), such as HA-1 and HA-2, are the main targets of immune responses after allogeneic stem cell transplantation (SCT). HA-1 and HA-2 are two hematopoietic system-restricted antigens encoded, respectively, by HMHA1 and MYO1G genes. In order to estimate their frequencies in Tunisians, we performed a molecular-based allele analysis for 160 healthy and unrelated subjects. Genomic DNAs were extracted mainly by the salting out method. Single nucleotide polymorphism (SNP) genotyping assays for selected sites at HMHA1 gene (rs3764653 and rs1801284) and at MYO1G gene (rs61739531) were performed with a sequence specific primers-polymerase chain reaction (SSP-PCR) method. Statistical analysis of our results showed that the HA-2 antigen is more frequent than the HA-1 antigen in the Tunisian population because their frequencies were 97% and 57%, respectively. Allele analysis for HMHA1 gene showed that the R variant (500T-504G) was predominant in our population (64%). For the MYO1G gene, the C allele was predominant (84%). All loci were in Hardy-Weinberg equilibrium (minimum P value = 0.06). Our frequencies were close to those reported in African and Caucasian groups.


Asunto(s)
Antígenos de Histocompatibilidad Menor/genética , Proteínas de Neoplasias/genética , Oligopéptidos/genética , Polimorfismo Genético , Frecuencia de los Genes , Humanos , Túnez
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