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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.
Rym Afiouni Josiane Helou Stephanie Matar Roland Tomb 《The Journal of clinical and aesthetic dermatology》2021,14(2):22
Rosacea and cutaneous lupus erythematosus (CLE) are chronic inflammatory dermatoses. To our knowledge, no cases of granulomatous rosacea (GR) associated with CLE have been previously reported in the literature. We describe the case of a 38-year-old female patient who presented to our clinic with a diffuse scaly facial erythema, with the codiagnoses of GR and CLE later confirmed with clinicopathological correlation. 相似文献
3.
Mejri Nesrine Rym Sellami Raoudha Doghri Hela Rifi Henda Raies Amel Mezlini 《中国肿瘤临床(英文版)》2012,(4):274-276
This paper reports a case of testicular synovial sarcoma with molecular genetic analysis.A 24-year-old male presented with painless scrotal mass.Ultrasonography showed a heterogeneous mass of 66 mm×34 mm in size involving the inguinal region.Histological examination of a surgical biopsy showed a gradeⅢmonophasic growth pattern of spindle cell proliferation.Immunohistochemical analyses indicated positive staining for pancytokeratine and epithelial membrane antigen.Cytogenetic analysis showed the presence of CYT-SSX1 mutation,and CT scan showed non-specific pleural micro-nodules with a size of 7.5 mm.The patient had an extended left orchidectomy but was lost to follow-up for 1 year.A local recurrent scrotal mass of 32 mm×25 mm,multiple inguinal lymph nodes,and increased pleural nodules,which were confirmed by histological examination,were treated with three cycles of adriamycine and ifosfamide chemotherapy,surgical resection,and radiotherapy with complete response.After 3 months,the patient developed local recurrence and pulmonary metastases that did not respond to second-line chemotherapy based on gemcitabine and paclitaxel.The patient had dyspnea at the time of this writing and chest pain,and is under third-line chemotherapy based on Deticene after 30 months of following up.This patient died on November 16,2012 after a resperatory failure and malignant plural effusion. Synovial sarcoma should be considered in the differential diagnosis of soft tissue tumor and it should be aggressively treated to improve prognosis.Although our patient has shown numerous factors of bad prognosis,he has had a relatively long survival time. 相似文献
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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
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Sellami-Dhouib R Mrad K Sassi S Driss M Abbes I Mounir H Noureddine L Ammar B Ben Romdhane K 《Annales de pathologie》2007,27(3):247-250
Inflammatory pseudotumor (IPT) of the spleen is an uncommon entity with debated etiology, characterized by a mixture of inflammatory cells and a component of myofibroblastic spindle cells. This lesion needs to be distinguished from the follicular dendritic cell tumor and the inflammatory myofibroblastic tumor. We report two cases of splenic PTI in a 69-year old and a 62-year old women. The tumors measured respectively 80 and 30 mn in greatest dimension. An inflammatory pseudotumor was histopathologically diagnosed following a splenectomy. 相似文献
9.
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
10.
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