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M Gérard

Publications and source records attributed to M Gérard.

At least 19 recordsLinked to original sources
PubMed2005

[A twelve-year-old teenager with bone pain and white papules].

Here we present a case report in which a teenager, with papules on the arm and back since the infancy, complained of back and right knee pain at the age of 12 years. The radiological examination led to the diagnosis of osteopoikilosis and melorheostosis. The Buschke-Ollendorff syndrome (BOS) associates osteopoikilosis (asymptomatic bone dysplasia) and disseminated dermatofibrosis. The BOS is rare, and its association with melorheostosis (another bone dysplasia in which pain and deformity may occur) makes the prognosis uncertain. This case report highlights the diagnosis problems related with bone pain in paediatrics. The purpose of this manuscript is to present the characteristics of two bone dysplasias: osteopoikilosis and melorheostosis, and to discuss the involvement of each one in the clinical picture of our patient.

Bone and Bones↗
PubMed2005

[The sexual abuse of children].

In the last twenty years, the knowledge in the field of child sexual abuse has grown tremendously. The author has selected a few topics of present interest. These relate to the clinical work and researches of "Centre SOS Enfants-U.L.B., C.H.U. Saint-Pierre". First of all, the general background is recalled and summerized: history, definition, statistics, clinical features. Then the paper goes more specific about the criteria that may orient the practitioner to an actual case of CSA. Credibility is an important issue for subsequent action. In that respect, the interview of a presumably victim child is of the utmost importance. Criteria and common examples are presented. A study that we conducted about the victims, parents and professionnals' opinions opens to the discussion of key issues in the management of a case. The central role of the mother's reaction is higlighted. A recent clinical research speeks for a strong psychological and social support of the mother. This opens to the wide subject of therapy. Best appropriated strategies are outlined. The contribution of group therapy is documented. The issue of the treatment of the perpetrators - adults or adolescents - is briefly discussed. It is concluded that CSA confront the practioners to a complex multilateral approach. The present paper aknowledges their difficulties and provides them with a set of marks that should be part of their tool box in the front line.

Child↗
PubMed2004

Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.

Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome with an estimated frequency of 1/32,000 in Japan. Five major criteria delineate KS namely postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, and a characteristic facial dysmorphism. Here we report on a series of 20 sporadic KS patients and we focus on some rare and atypical features that we have observed: chronic and/or severe diarrhea (4/20) including celiac disease, diaphragmatic defects (3/20), pseudarthrosis of the clavicles (2/20), vitiligo (2/20), and persistent hypoglycemia (2/20). Other occasional findings were severe autoimmune thrombopenia, cerebellar vermis atrophy, and myopathic features. Interestingly, one of our KS patients presented with a clinical overlap with CHARGE syndrome (right eye microphtalmia with optic nerve coloboma, VSD, bilateral cryptorchidism, and severe deafness). Because these features are more frequent in our series than previously described, we propose to carefully investigate these manifestations during KS patient survey in an attempt to determine their real frequency and in order to improve clinical management.

Abnormalities, Multiple↗
PubMed2004

[Phototherapeutic keratectomy in the treatment of lattice corneal dystrophy type I].

PURPOSE: Lattice corneal dystrophy type I is an autosomal dominant corneal dystrophy caused by allelic mutations of the BIGH3 gene. Type I dystrophy is recognized clinically by the characteristic net of linear opacities within the corneal stroma that results from an accumulation of amyloid. This study was designed to evaluate the therapeutic potential of phototherapeutic keratectomy (PTK) for the treatment of lattice corneal dystrophy type I. PATIENTS AND METHODS: PTK was performed with the Chiron Technolas Chiron Keracor 217c on a series of 19 eyes of 13 patients with lattice dystrophy type I. Mean patient age was 38.9 years. The mean follow-up period was 36 months. Localization of central opacities was determined by analyzing Scheimpflug images. The changes in spherical equivalent and best corrected visual acuity were evaluated at 1, 3, 6, 9, 12, 18, 24 and 36 months. RESULTS: The central depth of the deposits measured with the Scheimpflug camera was on average 74.14+/-31.03 microm in the primary dystrophies and 30.1+/-10 microm in graft recurrence. We noted a clear improvement in visual acuity, which increased by 0.257+/-0.120 to 0.600+/-0.178 as of the 3rd month and stabilized at 0.684+/-0.257 until the 36th month. A disappearance of repeating ulcerations was observed at month 30. We found a statistically significant correlation (R=0.6776; p=0.0109) between the improvement in vision (in lines) and the depth of opacities (with the Scheimpflug camera). The mean hyperopic shift caused by photoablation (69+/-15 microm) was +0.71+/-1 D at 36 months. CONCLUSION: These results confirm that PTK is an effective method of managing corneal lattice dystrophy type I.

Adult↗
PubMed2002

[Evaluation of single-injection caruncular sub-Tenon's anesthesia].

INTRODUCTION: Because of its complications, particularly globe perforation, retrobulbar injection has been progressively replaced by peribulbar anesthesia. However, with peribulbar anesthesia, the excessive rate of imperfect blockade requires supplemental injection. We have been performing local anesthesia using caruncular sub-Tenon single injection for many years. This technique is evaluated. PATIENTS AND METHODS: A prospective study has been carried out on 183 eyes. Regional anesthesia was given by a caruncular sub-Tenon single injection. For each case, we studied akinesia, analgesia, pain before, during, and after surgery, the number of supplemental injections, eyeball orientation, and surgical conditions. RESULTS: A total motor blockade was obtained in 157 cases (85.8%) and total lid akinesia in 176 patients (96.2%). Eight patients (4.4%) needed a second injection. During surgery, 10 patients complained of pain (5.5%). We found 27 eyes (14.7%) were divergent and 12 (6.5%) were convergent. Surgical conditions were good or very good in 90% of cases. No complications due to the injection (perforation or lesion of the eyeball or the optic nerve) were noted. CONCLUSION: Single-injection caruncular sub-Tenon anesthesia is an alternative technique to classical peribulbar anesthesia. This technique is efficient, simple, easy to learn, reproducible, and seems to have a low rate of complications.

Aged↗
PubMed2001

[Keratitis due to caterpillar of Pseudosphinx tetrio hairs].

A case of keratitis due to caterpillar hairs of the Pseudosphinx tetrio is reported. As he was clearing his garden without glasses or a protective headgear, the patient felt left ocular pain due to the projection of a caterpillar into the eye. On examination, there were numerous intrastromal caterpillar hairs involving the inferior temporal quadrant of the cornea. The small size of the hairs prevented removal with forceps. The patient was treated by extensive washing of the eyeball and topical application of anti-inflammatory drugs, cycloplegics and antibiotics. The caterpillar hairs gradually came off the cornea over a two-weeks period. The cornea remained free of any scar. Besides keratitis and conjunctivitis, caterpillar hairs are known to cause iris nodules, chronic uveitis, cataract, hyalitis, chorioretinitis, and orbital cellulitis.

Adult↗
PubMed2001

[Optical involvement in multiple sclerosis. Results of a cross-sectional study with 57 patients from Martinique].

INTRODUCTION: The optical disease observed concurrent with multiple sclerosis is poorly known in blacks because of the rare occurrence of this pathology in the black population. The few studies currently available suggest more severe problems in black subjects than in Caucasians. Martinique has subjects who are genetically close or even identical but who acquired multiple sclerosis in two very different endemic areas: some in Martinique and others in France. PATIENTS AND METHODS: We performed an ophthalmological transversal descriptive study in a population of 57 black multiple sclerosis patients living in Martinique, selected according to the Poser criteria. Patients were divided into two groups: an M group (26 cases) made up of patients who had never left Martinique or the West Indies and an FM group (31 patients) made up of patients who had lived at least one year in France between the ages of 5 and 15. RESULTS: At least one episode of retrobulbar optic neuritis was observed in 16 cases (61.5%) in the M group and in 11 cases (31.5%) in the FM group. The number of eyes with either one episode or more of retrobulbar optic neuritis or papillitis was higher in the M group, 26 cases (50%) than in the FM group, 14 cases (22.6%). Multiple sclerosis began by a disease of the optic nerve in 12 cases (46%) in the M group and in 7 cases (22.6%) in the FM group. The mean visual acuity is 20/30 in the M group and 20/20 in the FM group. The mean value of the p 100 wave was 131 ms in the M group and 113 ms in the FM group. DISCUSSION: Multiple sclerosis observed in the black population living in Martinique (M group) is characterized by frequent and severe visual problems. The visual phenotype of the FM group is quite similar to the visual phenotype of Caucasians. More than ethnic and genetic factors, the tropical area of acquisition should have an influence on the visual phenotype. For unknown reasons, the optical problems appear severe when multiple sclerosis is acquired in a low endemic area.

Adolescent↗
PubMed2000

Effectiveness of antiretroviral therapy initiated before the age of 2 months in infants vertically infected with human immunodeficiency virus type 1.

UNLABELLED: The effectiveness and tolerance of antiretroviral therapy with a combination of three reverse transcriptase inhibitors starting at the time of diagnosis (before 2 months of age) was evaluated in four infants with vertically acquired HIV-1 infection. Plasma HIV-1 RNA levels ranged from 230,000 to 1,000,000 copies/ml before onset of triple therapy and fell below 50 copies/ml at 12 to 33 weeks of life in three of the infants. These three children, currently aged 158, 105 and 72 weeks, are asymptomatic, have normal lymphocyte subsets and no hypergammaglobulinaemia. Two children experienced a profound reduction in the amount of proviral DNA detected in blood and have become HIV-1 seronegative, although one of them has had HIV-1 RNA detectable on a single occasion at 114 weeks of life (303 copies/ml). Transient interruption of therapy resulted in a rapid but reversible increase in HIV-1 RNA levels in the third child and was associated with the production of HIV-specific antibodies. The fourth child whose parents were not compliant to treatment and follow-up had a poor virological response. CONCLUSION: Early treatment of vertically acquired human immunodeficiency virus type 1 infection with three reverse transcriptase inhibitors is well tolerated and can result in such suppression of viral replication that specific antibodies are not produced, that proviral DNA falls to the lower limit of quantitation in blood and that all clinical and immunological manifestations of infection are avoided. Parental adhesion is crucial to the effectiveness of therapy.

Anti-HIV Agents↗
PubMed2000

[Tuberculosis associated with the human immunodeficiency virus].

The HIV pandemic is one of the factors that have contributed to the the worldwide increase in tuberculosis cases especially in subsaharian Africa. The copathogenicity between M. tuberculosis and HIV is best illustrated by the high susceptibility of the HIV-infected persons for reactivation of a remote tuberculous infection or early progression of a newly acquired disease and by the negative impact of tuberculosis on natural history of HIV characterised by increased incidence of clinical progression and increased mortality rates. Clinical presentation is rather atypical and severe when immune suppression is advanced: no cavitation on the chest X-rays, visceral ganglionnar involvement with frequent fistulization, positive blood cultures. A standard 6 months antituberculous therapy has the same efficacy as in HIV uninfected patients excepted in severe cases especially if immunosuppression is advanced when 9 months treatment are recommended. Higher frequency of side effects to the antituberculous drugs and drug interactions between the rifamycin and several antiretrovirals due to the induction or inhibition of the CYP3A could interfere with the treatment of the tuberculosis. Paradoxical reaction to the antituberculous therapy after immuno-restoration is induced by the combined antiviral therapy has also been reported. Isoniazid prophylaxis is recommended in patients with a induration of more than 5 mm on PPD skin test and is associated with a 60% reduction of risk of development of tuberculosis.

AIDS-Related Opportunistic Infections↗
PubMed2000

[Is there a delay in bathing the external eye in the treatment of ammonia eye burns? Comparison of two ophthalmic solutions: physiological serum and Diphotérine].

PURPOSE: An experimental animal study was conducted to analyze the delay for ocular bathing in the treatment of severe ocular ammonia burns. Two solutions of ocular wash, saline solution and Diphotérine were compared. MATERIAL: and methods: The study included 23 eyes of New Zealand albino rabbits that received for 1 minute 100 microl of 15.3% ammonium solution. Each eye was then washed with 250 of saline solution or 250ml Diphotérine after a delay of 1, 3, 5, 10 or 30 minutes. Effects were assessed on the basis of changes in anterior chamber pH, ammonia concentration in the anterior chamber, and cytopathology examination of the burned corneas. RESULTS: Ocular wash with Diphotérine in the first minutes following ocular burn induced an inflexion of the pH curve unlike ocular wash with saline solution. At 30 minutes, there was no inflexion of the pH curve and the ammonia concentration in the anterior chamber was low. Contrary to ocular wash using Diphotérine, stromal edema was seen at cytopathological analysis after washing with saline solution. CONCLUSIONS: This study provides evidence of the interest of ocular bathing in the first minutes following ocular burn by ammonia. The efficacy of external ocular washing with Diphotérine was proven by biochemical and cytopathological demonstrations. The importance of sequelae were related to the degree of initial stromal edema.

Ammonia↗
PubMed1999

Hox gene expression in limbs: colinearity by opposite regulatory controls.

Genes of the HoxD complex have a crucial role in the morphogenesis of vertebrate limbs. During development, their functional domains are colinear with their genomic positions within the HoxD cluster such that Hoxd13 and Hoxd12 are necessary for digit development, whereas Hoxd11 and Hoxd10 are involved in making forearms. Mutational analyses of these genes have demonstrated their importance and illustrated the requirement for a precise control of their expression during early limb morphogenesis. To study the nature of this control, we have scanned the posterior part of the HoxD complex with a targeted reporter transgene and analyzed the response of this foreign promoter to limb regulatory influences. The results suggest that this regulation is achieved through the opposite effects of two enhancer elements which would compete with each other for interacting with nearby-located promoters. The physical position of a given gene within this genomic interval of opposite regulations might thus determine its final expression pattern. This model provides a conceptual link between the morphology of the future limb and the genetic organization of the Hox gene cluster, a translation of a genomic context into a morphogenetic topology.

Animals↗
PubMed1999

Single cell analysis of antigen-specific T cell responses in HIV-infected individuals.

Antigen-specific and polyclonally induced T cell responses were analyzed in 10 HIV-infected individuals and in 14 controls by enumerating the numbers of tetanus toxoid (TT)-specific and phytohemagglutinin (PHA)-induced IFN-gamma-secreting cells (SC) and IL-4-SC using an enzyme-linked immunospot assay. Whereas the numbers of IFN-gamma-SC in HIV-infected patients were not different from those of the controls in response to an in vitro stimulation with PHA, they were significantly decreased in response to an in vitro stimulation with TT, both before and after a TT booster. Cell depletion experiments indicated that this difference was related to an impairment of CD4(+) T-cell-mediated TT-specific IFN-gamma secretion. Concerning IL-4, the numbers of both polyclonally induced IL-4-SC and TT-specific IL-4-SC were significantly lower in HIV-infected patients than in the controls. It is concluded that secretion of antigen-specific cytokines of both Th1 and Th2 types is depressed in HIV-infected patients.

Adult↗
PubMed1999

Disruption of the mouse necdin gene results in early post-natal lethality.

Prader-Willi syndrome (PWS) is a neurobehavioural disorder characterized by neonatal respiratory depression, hypotonia and failure to thrive in infancy, followed by hyperphagia and obesity among other symptoms. PWS is caused by the loss of one or more paternally expressed genes on chromosome 15q11-q13, which can be due to gene deletions, maternal uniparental disomy or mutations disrupting the imprinting mechanism. Imprinted genes mapped to this region include SNRPN (refs 3,4), ZNF127 (ref. 5), IPW (ref. 6) and NDN (which encodes the DNA-binding protein necdin; refs 7,8,9,10). The mouse homologues of these genes map to mouse chromosome 7 in a region syntenic with human chromosome 15q11-q13 (refs 7,11). Imprinting of the human genes is under the control of an imprinting center (IC), a long-range, cis-acting element located in the 5' region of SNRPN (ref. 12). A related control element was isolated in the mouse Snrpn genomic region which, when deleted on the paternally inherited chromosome, resulted in the loss of expression of all four genes and early post-natal lethality. To determine the possible contribution of Ndn to the PWS phenotype, we generated Ndn mutant mice. Heterozygous mice inheriting the mutated maternal allele were indistinguishable from their wild-type littermates. Mice carrying a paternally inherited Ndn deletion allele demonstrated early post-natal lethality. This is the first example of a single gene being responsible for phenotypes associated with PWS.

Alleles↗
PubMed1999

[Surgical technique of limbal autotransplantation in severe and recent eye burns].

We report our surgical technique of limbal autograft for recent severe ocular burns. Our procedure is a modified Kenyon and Tseng technique. We discuss our main observations when using this procedure for serious ocular burns which demonstrate the physical signs best indicating surgery, the limbal region to be used, and optimal postoperative follow-up.

Burns, Chemical↗
PubMed1999

[Prospective study of eye burns at the Fort de France University Hospital].

PURPOSE: We report the results of a three-years prospective study focusing on ocular alkali burns conducted in the University hospital of Fort de France (French West Indies). PATIENTS AND METHODS: This case record survey included all alkali burns evaluated by ophthalmologists in the emergency unit of the Fort de France hospital. All recruited patients were either called to identify the alkali (pH determined with a Prolab pH-meter) or underwent an anterior chamber puncture showing evidence of an aqueous humor pH above 8. The recorded data were: age, gender, cause of burn, in case of aggression the relation between the victim and the aggressor, initial clinical findings, Ropper Hall classification. The therapeutic protocol was initiated according to this classification. The course of the ocular burn was noted. Economical and medicolegal consequences were assessed from duration of off work time and from information provided by the public prosecutor respectively. RESULTS: Twenty-four patients who had 39 burned eyes were included. Most ocular burns (18) were caused by aggressions with Alcali (ammonia, pH = 12.8). Most victims were men accused of adultery. In the West Indies, Alcali is thought to have power to drive away evil spirits. Most victims were young men (mean age 42 years). Eight court suits have been filed and in 5 cases the judge dismissed the charge. In 13 eyes, the delay to the first ocular wash was 30 minutes and resulted in serious ocular burn (Ropper Hall class 3 or 4). After application of the therapeutic protocol, 6 of these eyes recovered in an average 55 days; 3 required limbal autograft, 2 were successful. Three of these severe burns were complicated by spontaneous perforation (1 eye), atrophy (1 eye), and leucoma (1 eye). One patient was lost to follow-up. All minor ocular burns (Ropper Hall class 1 and 2) healed within an average 12 days (range 3-38 days). CONCLUSION: Particular circumstances of ocular alkali burns in Martinique (French West Indies) have been indentified in this study which established the seriousness of these burns and their social and sometimes legal consequences. The importance of prevention is emphasized. It would seem that minor ocular alkali burns do not require a treatment duration longer than 15 days. Finally, the clinical data reported in this study show that a delay of several minutes is required for the development of severe ocular alkali burns.

Adult↗
PubMed1999

[Experimental study about intra-ocular penetration of ammonia].

PURPOSE: The seriousness of ocular alkali burn depends on low quick the alkali to enter the eye. We report the results of an experimental study on intra-ocular penetration of ammonia. MATERIALS AND METHODS: This study included 23 eyes of New Zealand albino rabbits, burned for 1 minute by 100 microl of a solution titrating 15.3% ammonia. An pH meter probe inserted into the anterior chamber measured pH every 5 seconds. Experiment were carried out within 1, 3, 5, 10 and 30 minutes. An anterior chamber puncture was performed at the end of experiments, after of 1, 3, 5, and 10 minutes, for measuring the ammonia concentration in the anterior chamber. RESULTS: PH increased 1 to 3 minutes after applying of ammonia on the cornea, until a maxima 10, 5 to 6 minutes later, followed by an exponential decrease. After 30 minutes, pH was still higher than physiological pH, and the ammonia concentration was low. The penetration-ratio of ammonia through cornea was about 11%. Measured pH differed from pH calculated from the concentration of ammonia. CONCLUSIONS: The difference between measured and calculated pH evidences chemical reactions. The two pH increases interspersed with a plateau prove the existence of 2 successive acido-basic chemical reactions between ammonia and 2 sorts of acid. Also, the density of protein uptake can be calculated from ammonia. This suggests an interesting avenue of research as protein density can be related in the eye with the pK of the base, and thus foresee the potential danger of a base to biological tissues.

Ammonia↗