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Biomedical subjects

Philippe Halimi

Publications and source records attributed to Philippe Halimi.

11 recordsLinked to original sources
PubMed2006

Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report.

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterized by bilateral congenital abnormalities of the anterior segment of the eye associated with abnormalities of the teeth, midface, and umbilicus. Most cases of ARS are caused by mutations in the genes encoding PITX2 or FOXC1. Here we describe a family affected by a severe form of ARS. CASE PRESENTATION: Two members of this family (father and daughter) presented with typical ARS and developed severe glaucoma. The ocular phenotype was much more severe in the daughter than in the father. Magnetic resonance imaging (MRI) detected an aggressive form of meningioma in the father. There was no mutation in the PITX2 gene, determined by exon screening. We identified an intragenic deletion by quantitative genomic PCR analysis and characterized this deletion in detail. CONCLUSION: Our findings implicate the first intragenic deletion of the PITX2 gene in the pathogenesis of a severe form of ARS in an affected family. This study stresses the importance of a systematic search for intragenic deletions in families affected by ARS and in sporadic cases for which no mutations in the exons or introns of PITX2 have been found. The molecular genetics of some ARS pedigrees should be re-examined with enzymes that can amplify medium and large genomic fragments.

Abnormalities, Multiple↗
PubMed2006

Pleomorphic adenoma of the nasal septum and its relationship with Epstein-Barr virus.

OBJECTIVES: Pleomorphic adenoma is the most common benign tumor of the major salivary glands, especially of the parotid gland. It is much less common in the minor salivary glands of the oral cavity, and it rarely occurs in others sites in the head and neck. Even if virus involvement in salivary glands tumor has been many times discuted, the etiology of this tumor keeps being unknown. As compared to other nasal tumors, we tried to prove if Epstein-Barr virus (EBV) could be involved in the development of pleomorphic adenoma in this particular nasal localization. METHODS: Three cases of pleomorphic adenomas of the nasal septum (two women and a man in age of 23-59 years) were retrospectively studied. All had positive rate of EBV-related blood antibodies. All the patients had undergone endoscopic surgery to remove the complete tumor. We used hybridation technique in the search for EBV-DNA in the three tumors. RESULTS AND CONCLUSION: We had positive EBV-DNA detection in the tumor in one case, which seemed to prove relationship between pleomorphic adenoma and this virus. The literature concerning the subject is reviewed in order to explain EBV involvement in the development of such tumors in this particular localization.

Adenoma, Pleomorphic↗
PubMed2006

Chiari type I malformation in four unrelated patients affected with Fabry disease.

Fabry disease (FD) is an X-linked inborn error of metabolism resulting from the deficient activity of alpha-galactosidase A which leads to the widespread deposition of glycosphingolipids in lysosomes, and to ischemic complications involving kidneys, heart and brain. Among neurological symptoms, strokes and transient ischemic attacks (TIA) have been reported. A 30-year-old male patient, with FD, was referred to us for evaluation of a sudden episode of dizziness, with disequilibrium, and diplopia, in agreement with the diagnosis of a TIA. Head magnetic resonance imaging (MRI) showed no cerebrovascular involvement but revealed the presence of Chiari type I malformation (CMI). We subsequently performed head MRI in a cohort of 44 consecutive hemizygous male patients and seven heterozygous females affected with FD, and identified three additional cases (two males and one female) of CMI. Whether the association is coincidental or not will need further studies but our data suggest that CMI should be ruled out in all Fabry patients.

Adult↗
PubMed2006

Adrenal suppression and osteoporosis after treatment of nasal polyposis.

CONCLUSION: Patients with severe nasal polyposis (NP) and a high steroid consumption have a high prevalence of glucocorticoid-induced osteoporosis and secondary adrenal insufficiency. OBJECTIVES: To evaluate the risk of complications of the medical treatment in patients presenting with the diagnosis of NP. PATIENTS AND METHODS: This was a prospective study. A total of 46 consecutive patients with NP were included when the oral steroid consumption during the past year was greater than three short courses of systemic steroid treatment (i.e. more than 21 days per year of treatment, prednisolone 1 mg/kg body weight per day, for 6-10 days). The nasal function was checked on the basis of five criteria: nasal obstruction, anterior rhinorrhea, posterior rhinorrhea, facial pain, and loss of sense of smell. Two tests were carried out for each patient: (i) a bone mineral density evaluation by dual energy X-ray absorptiometry (DXA) at three different sites in the lumbar spine and femur, and (ii) an evaluation of the hypothalamic-pituitary-adrenal (HPA) axis by the synacthen test. RESULTS: Most of the patients had a severe NP associated with asthma (78.3% of the population), and aspirin idiosyncrasy (28.3%). In all, 10.9% and 43.5% of patients had osteoporosis and osteopenia at the lumbar spine site. Twenty patients (48.8% of the tested patients) had an asymptomatic adrenal insufficiency.

Absorptiometry, Photon↗
PubMed2005

[Bone mineral density after treatment for nasal polyposis].

PURPOSE: Medical treatment of nasal polyposis is based on corticotherapy, and the most frequent complication of long-term corticotherapy is corticosteroid-induced osteoporosis. OBJECTIVE: To assess bone mineral density after long-term, high-dose corticosteroid treatment for nasal polyposis. PATIENTS AND METHODS: Bone mineral density at the spine and hip was measured by absorptiometry in 32 patients who had received high doses of corticosteroids for nasal polyposis. None of them had a disease that interfered with bone mineral density RESULTS: Bone mineral density was measured in 32 patients (59% men) aged 49.7 +/- 3.7 years [range: 29 - 74] after corticosteroid therapy for a mean of 5.3 years [range: 2-22 years]. More than 70% of the patients had abnormal bone density (osteopenia or osteoporosis ) at the spine and 44% at the hip. Only eight (25%) patients had normal bone density at both the spine and hip. CONCLUSION: High doses of corticosteroids in the treatment of nasal polyposis affect bone mineral density. Assessment of the benefits and risks of endoscopic sinus surgery must take this iatrogenic risk into account.

Administration, Oral↗
PubMed2005

Persisting reversed clock syndrome.

BACKGROUND: The reversed clock phenomenon results in the transposition of objects from one side to another. Its major manifestation consists in the reversal of clock numbers in clock-drawing test. It could be due to a stroke disrupting attentional cerebral network. This phenomenon usually regresses in a few days. OBJECTIVE: To report a case of reversed clock phenomenon with disorders of space representation that did not regress spontaneously. DESIGN: Case report. PATIENT: A 67 year-old woman was referred due to headaches associated with gait disorder, visual field deficit and disturbance of space representation. RESULTS: Magnetic resonance imaging demonstrates two right cerebral infarcts mainly localized in the parieto-occipital region. A week after her stoke, clinical testing confirms a reversed clock phenomenon. The patient placed the hands of a clock in the opposite direction of what was specified. She got lost at home locating rooms in directions opposite to their real ones. Rehabilitation sessions partially improved these manifestations. CONCLUSION: Although it usually improves in a few days, reversed clock phenomenon can persist longer. Rehabilitation sessions based on localization exercises may be helpful in such situations.

Aged↗
PubMed2005

Correlation between nasosinusal symptoms and topographic diagnosis in chronic rhinosinusitis.

Rhinitis and sinusitis concern roughly a quarter of the population in the Western world. They are associated with a wide range of symptoms: nasal obstruction, anterior and posterior nasal discharge, sneezing episodes, facial pain or congestion, and taste and smell disorders. The aim of this prospective study was to evaluate the clinical significance of these various symptoms as a function of the topographic diagnosis of chronic rhinosinusitis. The study involved 474 patients with signs of chronic perennial and persistent rhinosinusitis. The disorders of the nasal cavities and paranasal sinuses were classified into three main diagnostic categories: chronic rhinitis, localized sinusitis (mainly, anterior sinusitis), and diffuse rhinosinusitis (ie, nasal polyposis). A principal components analysis was performed. The symptom patterns of the three main clinical entities differed greatly. Most of the following clinical signs--nasal obstruction, anterior and posterior nasal discharge, sneezing, and facial congestion--are found in all diagnostic categories and hold no specific clinical significance. By contrast, four symptoms seem to have a substantial differentiating potential: anosmia and complete loss of flavor for diffuse rhinosinusitis, cacosmia for localized anterior sinusitis, and severe facial pain for localized sinusitis. This study proposes a new analysis of the relationship between symptoms of chronic rhinosinusitis and findings on a sinus computed tomography scan.

Adolescent↗
PubMed2004

Medical treatment of stage I nasal polyposis over a 3-year follow-up period.

PURPOSE: To determine the effects of a standardized therapeutic protocol (short-term oral administration of prednisolone and daily intranasal spray of beclometasone) on stage I nasal polyposis over a follow-up period of 3 years. PROCEDURES: Assessments (evaluation of nasal function and drug consumption) were conducted at baseline and every 3 months on 54 consecutive patients with stage I nasal polyposis during 3 years. RESULTS: Over the follow-up period of 3 years, this dual modality proved to be successful in 87% of the subjects; only 13% had to undergo surgery after its failure. The average symptom reduction reached an improvement rate varying from 66 to 94.8%, according to the symptom type. The daily dosage of prednisolone and beclometasone was progressively decreased, while the gain in nasal comfort was being preserved. CONCLUSION: Management of stage I nasal polyps should be primarily medical.

Administration, Intranasal↗
PubMed2003

Corticosteroid treatment in nasal polyposis with a three-year follow-up period.

OBJECTIVES/HYPOTHESIS: The management of nasal polyposis is undoubtedly a controversial subject. The part played by surgery seems to be steadily growing, if the number of published reports dedicated to this approach is any yardstick. Although the medical treatment remains the undisputed therapeutic mainstay, trials dedicated to the long-term assessment of its overall efficacy are scarce. STUDY DESIGN: Retrospective medical record review. METHODS: The aim of the study is focused on the evaluation of a dual modality, topical and systemic, over a follow-up period of 3 years. In all, 100 patients were treated according to a standardized therapeutic protocol combining short-term oral administration of prednisolone and daily intranasal spray of beclomethasone. RESULTS: Over the follow-up period of 3 years, this dual modality proved to be successful in 85% of the patients; only 15% had to undergo surgery after its failure. The average symptom reduction reached an improvement rate varying from 58% to 80%, according to the symptom type. The daily dosage of prednisolone and beclomethasone was progressively decreased while the gain in nasal comfort was being preserved. CONCLUSIONS: Management of nasal polyps should be primarily medical. Resorting to surgical procedures should not be envisaged before a trial is conducted of dual steroid therapy under a regimen of strict compliance to treatment.

Administration, Intranasal↗