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1.
Regnier V; Meddeb M; Lecointre G; Richard F; Duverger A; Nguyen VC; Dutrillaux B; Bernheim A; Danglot G 《Human molecular genetics》1997,6(1):9-16
Type 1 neurofibromatosis (NF1) gene encodes for a member of the GTPase
activating protein family and is considered to be a tumor suppressor gene.
Its very high rate of de novo mutation in humans led us to study a specific
feature of this gene: the presence of numerous NF1-related sequences.
According to our results, the human genome contains at least 11 NF1-related
sequences, nine of which are scattered near centromeric sequences of seven
different chromosomes. These NF1-related sequences, whose extent is quite
varied according to loci, are unprocessed copies of the NF1 gene, and bear
numerous mutations. A phylogenetic analysis of the six largest sequences
indicates that they are all derived from a common ancestor, which would
have appeared 22-33 million years ago, and was subsequently duplicated
several times during hominoid evolution. The most recent duplication and
interchromosomal transposition occurred in the last million years
suggesting that the process could still be ongoing. Intriguing similarities
between the evolution of alpha- satellite DNA and NF1-related sequences
suggest the involvement of a common genetic mechanism for the generation
and pericentric spreading of these NF1 partial copies.
相似文献
2.
The nature of early interactions between Leishmania and macrophages which determine the outcome of infection can be related directly to parasite biological properties. Here we compared the capacity of L. major (Lm) strains, reported to be high (LmHV) and low virulent and (LmLV) in the mouse model and L. infantum (Li) strains, dermotropic (LiD) and viscerotropic (LiV), to infect and modulate cytokine production in human peripheral blood derived monocytes. Monocytes were infected with metacyclic promastigotes for 24, 48 and 72 h. Parasite burden was significantly higher in Lm‐ than in Li‐infected monocytes. LmHV and LiD induced a significantly higher parasite burden than LmLV and LiV respectively. Cytokine production was evaluated in monocytes infected for 24 h. Contrary to interleukin (IL)‐12p70, monocyte chemotactic protein‐1 and transforming growth factor‐β production was increased significantly in infected monocytes with no differences between strains. Lm isolates induced significantly higher quantities of tumour necrosis factor (TNF)‐α than Li isolates. Low levels of IL‐10 were induced by all Leishmania strains and, interestingly, co‐stimulation with lipopolysaccharide (LPS) was accompanied by a dramatic increase in IL‐10 production by infected monocytes. In conclusion, Lm isolates displaying different levels of virulence in mice exhibited significant differences in parasite burden but similar abilities to modulate cytokine production in human monocytes. Li strains showed weaker infectivity and TNF‐α inducing‐capacity compared with Lm strains. The dramatic increase of IL‐10 production in infected monocytes co‐stimulated by LPS may play a role in disease progression considering the presence of LPS during bacterial superinfections observed during human leishmaniasis. 相似文献
3.
Anissa Chouikha Dorra Rezig Nadia Driss Ichrak Abdelkhalek Ahlem Ben Yahia Henda Touzi Zina Meddeb Essia Ben Farhat Mahrez Yahyaoui Henda Triki 《Viruses》2021,13(3)
This report is an overview of enterovirus (EV) detection in Tunisian polio-suspected paralytic cases (acute flaccid paralysis (AFP) cases), healthy contacts and patients with primary immunodeficiencies (PID) during an 11-year period. A total of 2735 clinical samples were analyzed for EV isolation and type identification, according to the recommended protocols of the World Health Organization. Three poliovirus (PV) serotypes and 28 different nonpolio enteroviruses (NPEVs) were detected. The NPEV detection rate was 4.3%, 2.8% and 12.4% in AFP cases, healthy contacts and PID patients, respectively. The predominant species was EV-B, and the circulation of viruses from species EV-A was noted since 2011. All PVs detected were of Sabin origin. The PV detection rate was higher in PID patients compared to AFP cases and contacts (6.8%, 1.5% and 1.3% respectively). PV2 was not detected since 2015. Using nucleotide sequencing of the entire VP1 region, 61 strains were characterized as Sabin-like. Among them, six strains of types 1 and 3 PV were identified as pre-vaccine-derived polioviruses (VDPVs). Five type 2 PV, four strains belonging to type 1 PV and two strains belonging to type 3 PV, were classified as iVDPVs. The data presented provide a comprehensive picture of EVs circulating in Tunisia over an 11-year period, reveal changes in their epidemiology as compared to previous studies and highlight the need to set up a warning system to avoid unnoticed PVs. 相似文献
4.
Rahma Mani Sabrina Belkacem Zohra Soua Sandra Chantot Guy Montantin Sylvie Tissier Bruno Copin Jihene Bouguila Nicolas Rive Le Gouard Lamia Boughamoura Salma Ben Ameur Mongia Hachicha Raoudha Boussoffara Khadija Boussetta Samia Hammouda Abir Bedoui Habib Besbes Seif Meddeb Karima Chraeit Monia Khlifa Estelle Escudier Serge Amselem Imed Mabrouk Marie Legendre 《Human mutation》2020,41(1):115-121
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North‐African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients. Forty clinically diagnosed patients with PCD belonging to 34 families were recruited from Tunisian pediatric departments. In each proband, targeted capture PCD panel sequencing of the 40 PCD genes was performed. PCD panel sequencing identified bi‐allelic mutations in 82% of the families in eight PCD genes. Remarkably, 23.5% of patients carried the same c.2190del CCDC39 mutation. Single nucleotide polymorphism profiling in six unrelated patients carrying this mutation has revealed a founder effect in North‐African patients. This mutation is estimated to date back at least 1,400–1,750 years ago. The identification of this major allele allowed us to suggest a cost‐effective genetic diagnostic strategy in North‐African patients with PCD. 相似文献
5.
Ichrak Bougharriou Emna Elleuch Salma Ben Hmida Ala Meddeb Zaher Boudaouara Brahim Kammoun Mounir Ben Jemaa 《La Tunisie médicale》2022,100(1):56
Background. Hydatidosis is an endemic parasitosis in Tunisia that affect mostly the liver and the lung. Brain involvment is rare. Aim. To focus on diagnostic, therapeutic and evolutive characteristics of cerebral hydatidosis. Methods. We report all cases of cerebral hydatidosis seen in the infectious diseases and neurosurgery departments between January 2013 and June 2020. Results. Six cases of intracranial hydatid cyst were reported. The male to female ratio was 3:3. Age ranged from 3 to 60 years with a median age of 20,5 years. All patients lived in rural areas. The clinical symptomatology was progressive in 4 cases. It was dominated by headache (all cases). Brain imaging confirmed the diagnosis in all cases. The hydatid cyst was solitary and supratentorial in 3 cases. All the patients were operated. Albendazole was prescribed immediately after surgery, for 6 months in 5 cases and for 3 years in the case of disseminated hydatidosis. The outcome was favorable without recurrence in all patients with an average follow-up of 3,5 ± 0,5 years. Conclusion. Hydatid cyst of the brain is characterized by the severity of the neurological signs, the mandatory use of surgery because of life threatening and the excellent outcomes. 相似文献
6.
Hela Sahli Nedia Testouri Manel Ben Chihaoui Afef Hadj Salah Elhem Cheour Nihel Meddeb Bechir Zouari Slaheddine Sellami 《Maturitas》2009
Interpretation of densitometric results requires a comparison with reference bone mineral density (BMD) values of normal age and sex-matched persons. Thus the aim of this study was to determine these values for healthy Tunisian women, to estimate the prevalence of osteoporosis and to compare our findings with other populations. A cross-sectional study of 1378 Tunisian women aged between 20 and 96 years was carried out using DXA (GE-Lunar Prodigy). Subjects with suspected conditions affecting bone metabolism were excluded. Measurements were taken at the lumbar spine and femoral neck. These values were expressed at T-scores, with reference to the mean BMD values of the group aged 20–40 years. The peak bone mass, estimated in this age group was 1.174 + 0.127 g/cm2 at the lumbar spine and 1.016 ± 0.118 g/cm2 at the femoral site. It was attained respectively within the age of 25 years and 36 years. For both sites, the expected decline in BMD was shown when the successive age groups [40–49 years] and [50–59 years] were compared. Bone loss was rapid during the first 5 years after menopause. Thereafter BMD declined slowly but continually. The prevalence of osteoporosis in the women over 50 years of age, taking account of peak bone mass observed in our cohort, was 23.3% at the spine and 17.3% at the femoral neck with a combined prevalence of 23.4%. These rates attained respectively 30.4%, 11.8% and 32.9% when we considered the Italian values, which demonstrate the variability of osteodensitometric depending to the reference population adopted. 相似文献
7.
Mariam Siala Nadia Mahfoudh Radhouane Gdoura Mohamed Younes Hela Fourati Arwa Kammoun Ilhem Chour Nihel Meddeb Lilia Gaddour Faiza Hakim Sofien Baklouti Naceur Bargaoui Sleheddine Sellami Adnene Hammami Hafedh Makni 《Rheumatology international》2009,29(10):1193-1196
The purpose of the present study is to investigate the frequency of HLA-B27 and its alleles in reactive arthritis (ReA) and
in ankylosing spondylitis (AS) in Tunisia. HLA-B27 alleles were typed by PCR amplification with sequence-specific primers.
We studied 17 patients with ReA associated with urethritis or with gastrointestinal infection; 42 HLA-B27-positive patients
with AS and 100 healthy controls. Eleven ReA patients (67.7%) were HLA-B27 positive. There was an increased frequencies of
HLA-B27 (P = 7.76 × 10−12, OR = 59.30) and a moderate increase of HLA-B51 (P = 0.015; OR = 4.91) alleles in ReA patients when compared with healthy controls. Four B27 subtypes were identified: B*2702,
05, 09 and B*2712. The distribution of these alleles in the ReA patients was 37.5% for B*2702 and B*2705. Only these two subtypes
were detected in 18 (42.8%) and 24 (57.1%), respectively, of the AS patients. B*2709 and B*2712 were relatively rare in ReA
patients and were identified in one case each. Our results showed a restricted number of HLA-B27 subtypes associated with
ReA and AS. B*2702 and 2705 were common in ReA and AS patients. 相似文献
8.
Abid A Denguir R Hakim M Gharsallah N Ghedira F Meddeb I Kalfat T Khayati A 《La Tunisie médicale》2002,80(4):183-187
150 patients had mitral valve repair for mitral valve incompetence. There were 57 males and 93 females with a mean age of 22 years, 39% were less than 15 years of age. 60% of the patients were in Class II NYHA and 40% in Class III and IV. According to Carpentier's classification, isolated type I was present in 18 patients (12%), type II in 98 patients (64%) and type III in 34 cases (24%). Mitral repair included correction of valve prolapse, valvular enlargement with pericardial patch and annuloplasty with semi-rigid ring in 128 cases and PTFE patch along the posterior leaflet in 12 cases. The perioperative mortality rate was 2.6% (4 patients). All patients had early post-operative echocardiography. According to this, mitral regurgitation was absent or tiny in 135 patients (92%), grade II in 10 cases and grade III in 2 cases. It was moderate or important in twelve patients (8%). In the late post-operative period, three patients were lost to follow-up. All the others patients were reoperated upon for mitral dysfunction in a mean time of 37 months. The reason for reoperation was in the majority of the cases the recurrence of mitral regurgitation related to increase of valvular and sub valvular disease. The late mortality rate is 7% (10 patients). Out of 126 reviewed survivors on the long run, 71 patients (56%) are asymptomatic in class I, 53 patients (42%) in class II and 2 patients in class III NYHA. Mitral valvuloplasty is the preferred procedure in mitral insufficiency surgical management. It is associated to a low early mortality and morbidity rate. Despite the need for reoperation in about 10% of the cases in the long follow-up, mitral repair offers a good quality of life without anticoagulant treatment. 相似文献
9.
Distinct chromosomal abnormality pattern in primary liver cancer of non-B, non-C patients 总被引:5,自引:0,他引:5
To discriminate among the chromosomal abnormalities associated with the etiology of hepatocellular carcinoma (HCC), we performed a comparative genomic hybridization (CGH) analysis on 34 HCCs resected on non-cirrhotic livers from patients serologically negative for both hepatitis B (HBV) and C (HCV) viruses. The results were compared to those of a previous analysis of 50 HCCs selected on the basis of their positivity for HBV infection. The majority of the abnormalities found in the HBV positive cases (losses of chromosome arms 1p, 8p, 6q, 13q and 14q and gains of 1q, 8q, 6p and 17q) were similarly detected in the virus negative specimens. In contrast, a significant decrease (40% on average) was observed for losses at 4q, 16q and 17p in non-viral HCC samples, suggesting that these abnormalities are tightly associated with HBV infection. Thus, in addition to a common pathway towards malignancy, a subset of alterations may preferentially contribute to virus-induced carcinogenesis. In a parallel CGH study of 10 fibrolamellar carcinomas, a rare subtype of HCC, we found in six out of the seven informative cases, gains of chromosome arm 1q. This region, which is also preferentially amplified in non fibrolamellar tumors (58%), may contain an essential proto-oncogene commonly implicated in liver carcinogenesis. 相似文献
10.
Ben Lakhal R Aissaoui L Jeddi R Ayari B Ben Abid H Belhadj Ali Z Gouider E Meddeb B Hafsia R Hafsia A 《La Tunisie médicale》2005,83(5):296-299
The present work focuses on the therapeutic efficacy and the toxicity of alpha interferon in patients younger than age 18 years. 5 patients younger than 18 years were treated and followed up between 1990 and 1999 at the department of haematology (Aziza Othmana Hospital) Hydroxyurea was given as initial treatment to all patients. After a median period of 8 months, these patients received alpha interferon (5 millions units/m2 once). Six months after the beginning of the alpha interferon a complete hematologic response was obtained in all patients. The median overall survival was of 66 months: 3 patients are still alive (2 patients in an advanced stage and one patient in chronic phase) and 2 patients died after transformation. The most common reported side effects of alpha interferon were asthenia, weight loss, fever, myalgia, chills and headaches--these toxic manifestations were mild and were noticed in all our patients. Myelosuppression was noted in two patients. Interferon is well tolerated in patients younger than age years 18 old, with CML. It may offer an alternative to bone marrow transplantation in children in the chronic phase of CML without histocompatible donor. The role of new agents such as STI 571 needs to be evaluated as well. 相似文献