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Biomedical subjects

M P Vazquez

Publications and source records attributed to M P Vazquez.

At least 19 recordsLinked to original sources
PubMed2005

[Domestic animals and accidents in children].

Young French children have 45,000,000 domestic pets, cats and dogs being widely prevalent (40%). Injuries due to domestic animals, especially bites, in particular from dogs, represent 1.9% of all children's injuries. On the quality of first aid in the field, i.e., whether the treatment is the first line in surgical specialized service or not, if it is a vital emergency, will depend the possibility of immediate complications, which include local superinfection (15%), functionals and further aesthetic sequelae. Some injuries due to large animals carry a polytraumatism, which should be treated like all polytraumatisms, whatever the aetiology. Learning to know and respect animals and their needs should remain the priority of families to avoid unexpected injury. Families also need to take charge of the responsible animal.

Accident Prevention↗
PubMed2002

[Angiomatous lips].

After defining vascular malformations and tumors, the authors approach specific problems of these lesions involving the lips. Careful planning and assessment are necessary throughout the clinical course and evolution. Therapeutic management concern the vascular anomaly but the functional, cosmetic and psychological repercussions as well. The rules of surgical treatment are discussed in this labial location. Capillary malformations can be treated by pulsed dye laser for the skin involvement, but sometimes by reconstructive surgery in case of soft tissue and bony overgrowth. Venous malformations require percutaneous sclerotherapy, partial or total removal surgery, reconstructive surgery, with or without previous embolization, according to the size and functional repercussions. Lymphatic malformations involving the lip are based upon conservative and observing treatment or surgery according to impairment and psychological impact. There is a strong tendency for these lymphatic microcystic malformations to invade and to recur after surgery. The new lasers (diode, Nd Yag) have to be assessed in this area. Arterio-venous malformations are the most severe anomaly. When the lesion is cosmetically and functionally acceptable, the authors propose conservative management waiting for therapeutic progress expected from genetics research. Otherwise management require embolization and complete surgical treatment with lip reconstruction. The first-line treatment of hemangiomas is medical and pharmacological (local medical care, corticosteroids, interferon, vincristine) but surgery may be indicated in three situations. In urgent cases with severe complications surgery is performed after failure of medical management. Early surgery is recommended to prevent functional or cosmetic disturbance or serious psychological distress. Ultrasound dissection (Dissectron) an significantly contribute to the surgical outcome. Late surgery retains its classical cosmetic and functional indications and techniques to treat the residual after-effects. Three key-words dominate the rules of therapeutic management of all types of vascular anomalies: multidisciplinary approach, experience and carefulness.

Arteriovenous Malformations↗
PubMed2002

Melanotic neuroectodermal tumour of infancy involving the orbit and maxilla: surgical management and follow-up strategy.

Melanotic neuroectodermal tumour (MNET) of infancy is a rare benign but locally aggressive tumour. We describe our surgical treatment of MNET of the orbital region. There was osteogenic relapse involving the bone of the orbit, 20 days after macroscopically complete excision of the primary tumour when the patient was 12 weeks old. This is only the second report of osteogenic relapse in MNET. The relapse was treated by excision of the involved orbital floor, preserving the orbital periosteum. The tumour has not recurred in 23 months of follow-up. Residual tumour islets may regress spontaneously after incomplete excision of MNET, but the relapse rate is between 15% and 45%. In our opinion, excising a safety margin of a few mm of apparently healthy bone reduces the risk of relapse. In contrast, the orbital contents should be preserved if they are macroscopically normal. Follow-up consisted of frequent physical examinations and CT scans.

Humans↗
PubMed2002

[Early surgery of immature hemangiomas with the aid of an ultrasonic scalpel. Apropos of 81 cases].

BACKGROUND: The natural course of immature hemangiomas in infants is well-known. A rapid phase of growth from 6 to 8 months is followed by a period of stability then regression. Since approximately 70% of these immature hemangiomas resolve spontaneously, abstention is generally the rule. The volume or localization of certain lesions may nevertheless have a serious functional or morphological impact. MATERIAL AND METHODS: This retrospective study included 81 children who underwent surgery between October 1994 and March 2000. The children were aged 2 to 38 months at the time of surgery. Orbital localizations predominated (33 children). The indication for surgery was based on two criteria: risk of a functional impairment or risk of morphological sequela. All children with orbital hemangiomas with a functional risk of amblyopia were initially treated with corticosteroids. Surgery was performed in case of failure. The CAVITRON was used for 77 children and DISSECTRON for 4. These two ultrasound devices allowed easy dissection with little hemorrhage. RESULTS: There were no peroperative hemorrhagic complications. Few postoperative complications were observed. After resection of the orbital hemangiomas there was little functional impact and the postoperative ophthalmologic examinations were normal within several weeks. Mean follow-up was 12 months after surgery. Use of an ultrasound dissector allowed early and safe treatment of immature hemangiomas. DISCUSSION: Certain voluminous or poorly localized hemangiomas, particularly on the face, can have a serious function, morphological or psychological impact. Medical treatment is not always active and surgical resection may be required before the development of definitive sequelae. Ultrasound dissection, not previously used in this indication, can contribute significantly to the surgical outcome as demonstrated in these children operated on early. This technique is safe and shortens operative time. In light of these results, we believe early resection of immature hemangiomas should be reevaluated. It should not be considered as a last resort but rather as a complementary treatment.

Age Factors↗
PubMed2001

Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).

Cleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations in humans occurring with a birth prevalence of approximately 1:1,000. CL/P may be part of a defined syndrome, sequence or association, although most individual or familial cases present as an isolated (nonsyndromic) malformation (NSCL/P). Inheritance is generally regarded as multigenic although, in some families, NSCL/P seemingly segregates as a monogenic trait. On the other hand, van der Woude syndrome (vWS) is a rare autosomal dominant with cardinal features of lower-lip pits (LLP) and CL/P or cleft palate (alone). Since none of these traits is present in all mutation carriers, some individual or familial vWS cases, especially those lacking LLP, are indiscernible from NSCL/P, raising the question whether allelic variation at the vWS locus could underlie NSCL/P. This question was addressed using parametric linkage (LOD score) analysis in 21 multiplex NSCL/P families based on a tightly linked microsatellite marker (D1S3753), and nonparametric analysis using the transmission/disequilibrium test (GTDT) in 106 NSCL/P triads and selecting markers D1S205, D1S491, and D1S3753. No evidence for linkage of NSCL/P to vWS was found on the 21 families using the LOD score approach. In contrast, TDT yielded a significant P value of 0.04 for D1S205, supporting involvement of vWS in NSCL/P in a complex, modifying/polygenic manner rather than as a monogenic/major disease locus.

Alleles↗
PubMed2001

Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.

Pierre Robin sequence (PRS) consists of the nonrandom association of micrognathia, cleft palate (CP), and glossoptosis. It also includes respiratory and feeding difficulties that appear to be neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS, and the rare observations of familial nonsyndromic PRS, in which some of the affected individuals have isolated CP. We report the association of PRS with deletion 2q32.3-q33.2 due to an unbalanced reciprocal translocation 46,XX, t(2;21), del 2(q32.3q33.2), and we refine the deletion interval with regard to YAC probes and polymorphic DNA markers. The deletion was shown to be flanked by D2S369 (telomeric) and D2S315 (centromeric), thus it maps to a recently determined chromosomal region known to be nonrandomly associated with CP. This observation supports the hypothesis for the genetic bases of nonsyndromic PRS, strengthens its possible genetic association with isolated CP, and provides a candidate PRS locus, in chromosomal region 2q32.3-q33.2.

Chromosome Banding↗
PubMed2001

[Mandibular advancement: osteotomy or distraction osteogenesis? A case report].

From an experience in osteogenic distraction techniques acquired since 1993 and facing a case of retromandible, the authors have tried to define the criteria leading them to suggest a distraction rather a classical surgical procedure. The selection of the patient is based upon the age, the significance of the advancement, the asymmetry of the advancement and the former existence of a temporomandibular joint degenerative disease. Monitoring the distraction, in particular with per- and post-distraction orthodontics, remains complicated. The overcorrection and the reduction of recurrences after advancement using distraction remain openly discussed.

Adolescent↗
PubMed2001

[Oto-mandibular dysplasias: genetics and nomenclature of syndromes].

Otomandibular dysplasia are characterised by a combination of anomalies of the ear and the mandible. From the surgical point of vue, facial dysostosis is prominent and focus the attention. For the geneticist it is a group of different entities, familial or sporadic. Familial history, detailed clinical examination looking for extra-facial associated malformations, characteristics of the facial dysostosis, unilaterality or bilaterality and biological or radiological findings allow sometimes to identify a known syndrome. A bilateral and symetric dysostosis with predominant zygomatic and malar hypoplasia suggest the diagnosis of Treacher-Collins or Franceschetti syndrome or mandibulofacial dysostosis, particularly in the presence of positive familial history. Acral anomalies associated with facial dysostosis allow the distinction between Treacher-Collins syndrome and acrofacial dysostosis (Nager and Miller syndromes). Unilateral and bilateral asymmetrical anomalies, namely facioauriculovertebral syndrome, hemifacial microsomia, otomandibular dysostosis, no. 7 cleft, first branchial arch syndrome, Goldenhar syndrome were lumping together by Gorlin in 1990, who proposed to use the term "oculoauriculovertebral spectrum". This classification is the first step before genetic studies, who need homogeneous group of patients. Lastly recurrence risk can be evaluated and genetic counselling can be done only if a precise genetic diagnosis is known.

Child↗
PubMed2001

[Hemifacial microsomia treated with mandibular lengthening using intraoral distractors. On precise indications].

Mandibular hypoplasia in the hemifacial microsomia have largely benefited from distraction techniques especially intraoral. In fact, these techniques are possible in the child, replacing him in a better morphological, psychological and functional configuration. They can redynamise growth and, in any case, diminish secondary distant effects. The authors, from precise criteria, propose a surgical classification to facilitate the therapeutic decision. Intraoral and sometimes bidirectional distraction, whose results are equivalent to external distraction, present numerous advantages that, in the majority of cases, make it preferred now to external distraction. Its three-dimensional (3D) effect on bone and soft tissues and the long term follow-up must be evaluated more objectively, as pre and post-distraction stereolithographic or 3D photogrammetric may get. It must be considered in the child as the first step of skeletic surgery preparing to a facilitated second step orthopedic, orthodontic or orthognathic after puberty. In the young adult, it is in competition with conventional surgery but the slow progressive process, kind with the temporo-mandibular joints, allows in mandibular asymmetries an adaptation having avoided the need for controlateral osteotomy or a bone graft.

Adolescent↗
PubMed2001

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental abnormalities, tissue and organ hyperplasia and an increased risk of embryonal tumours (most commonly Wilms tumour). This multigenic disorder is caused by dysregulation of the expression of imprinted genes in the 11p15 chromosomal region. Molecular diagnosis of BWS is currently difficult, mostly due to the large spectrum of genetic and epigenetic abnormalities. The other difficulty in managing BWS is the identification of patients at risk of tumour. An imprinted antisense transcript within KCNQ1, called KCNQ1OT (also known as LIT1), was recently shown to be normally expressed from the paternal allele. A loss of imprinting of the KCNQ1OT gene, associated with the loss of maternal allele-specific methylation of the differentially methylated region KvDMR1 has been described in BWS patients. The principal aim of this study was to evaluate the usefulness of KvDMR1 methylation analysis of leukocyte DNA for the diagnosis of BWS. The allelic status of the 11p15 region and the methylation status of the KCNQ1OT and H19 genes were investigated in leukocyte DNA from 97 patients referred for BWS and classified into two groups according to clinical data: complete BWS (CBWS) (n=61) and incomplete BWS (IBWS) (n=36). Fifty-eight (60%) patients (39/61 CBWS and 19/36 IBWS) displayed abnormal demethylation of KvDMR1. In 11 of the 56 informative cases, demethylation of KvDMR1 was related to 11p15 uniparental disomy (UPD) (nine CBWS and two IBWS). Thirteen of the 39 patients with normal methylation of KvDMR1 displayed hypermethylation of the H19 gene. These 13 patients included two siblings with 11p15 trisomy. These results show that analysis of the methylation status of KvDMR1 and the H19 gene in leukocyte DNA is useful in the diagnosis of 11p15-related overgrowth syndromes, resulting in the diagnosis of BWS in more than 70% of investigated patients. We also evaluated clinical and molecular features as prognostic factors for tumour and showed that mosaicism for 11p15 UPD and hypermethylation of the H19 gene in blood cells were associated with an increased risk of tumour.

Adolescent↗
PubMed2001

"Distraction" of grafted alveolar bone in cleft case using endosseous implant.

OBJECTIVE: Presentation of a specific surgical technique of vertical alveolar ridge distraction performed on an alveolar bone graft 1 year after the primary grafting procedure designed to correct a labioalveolar cleft. The graft had not obtained the results desired and presented heavily scarred mucosal tissue. TECHNIQUE: A dental implant placed within the graft once it has been entirely freed by osteotomies functions as an endless screw. To avoid vascular risk, the alveolar bone graft is detached as a whole along its total height. Consequently, no bone remains above it to provide support for a conventional alveolar distractor. An osteosynthetic miniplate, fastened in a horizontal position beneath the nasal mucosae above the graft, is used to replace the missing bony support and to stabilize the implant, which activates the distraction process. PATIENT: This study is based on our first clinical case with a follow-up of 18 months at present. RESULT: A vertical displacement of the entire graft was achieved, including its attached mucosal layer, which repositioned both bone and mucosa on a far better level in the cleft area. Thus, a normal length of abutment was obtained permitting prosthetic rehabilitation based on the same endosseous implant, which was left in place within the graft. CONCLUSION: This technique may prove particularly helpful in certain cases in which a primary alveolar bone grafting procedure has produced borderline results. In such cases, on the one hand, neither the reasonably satisfactory volume of the bone graft itself nor the poor quality of its scarred mucosal tissue argue in favor of a secondary grafting procedure. On the other hand, it is impossible to resort to currently available alveolar distracters since our choice of techniques leaves no bone support above the graft.

Adolescent↗
PubMed2001

[The Wiedemann-Beckwith syndrome and a congenital cataract].

Wiedemann-Beckwith syndrome is a congenital syndrome with characteristic abnormalities: omphalocele, macroglossia, neonatal gigantism, visceromegaly, hemihypertrophy and a predisposition to embryonic tumors. Ophthalmologic abnormalities have not been described with Wiedemann-Beckwith syndrome. The authors report one case of Wiedemann-Beckwith syndrome associated with bilateral congenital cataract. Family studies indicate linkage of the Wiedemann-Beckwith syndrome locus to the marker 11p15,5. The genetics of cataract is heterogenic. Several mutations responsible for congenital cataract have been described. The association of the Wiedemann-Beckwith syndrome and cataract may contribute to the understanding of the genetics of congenital cataract.

Beckwith-Wiedemann Syndrome↗
PubMed2000

Neurophysiological brainstem investigations in isolated Pierre Robin sequence.

Polysomnography, electromyography (EMG) of the face, tongue, and soft palate, blink reflexes (BRs), EMG during bottle-feeding, and brainstem auditory evoked responses (BAERs) were performed in 25 newborn babies with isolated Pierre Robin sequence (PRS) to aid in evaluation and management. Obstructive apneas were found in 23/24 patients (the 25th having undergone tracheotomy). Number and duration of central respiratory pauses were always normal, as well as electroencephalographic and clinical organization of sleep stages. EMG recruitment pattern in facial and lingual muscles, and BRs were normal in all cases. EMG recruitment pattern in muscles of the soft palate was normal in 14/25 patients, showed a reduced average amplitude with short-duration and low amplitude motor unit potentials in 10/25, and showed signs of denervation in 1/25. EMG during bottle-feeding showed sucking-swallowing disorders in 20/25 patients. BAERs showed a bilateral conductive impairment with increased latencies and thresholds in 5/19 patients, but with normal and symmetric I-III and I-V interpeak latencies in 19/19. These neurophysiological findings suggest that in isolated PRS a dysfunction of the lingual and pharyngeal motor organization exists without any structural impairment in brainstem nuclei and pathways.

Blinking↗
PubMed2000

Assessment of p57(KIP2) gene mutation in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental anomalies, tissue and organ hyperplasia and an increased risk of embryonic tumours (most commonly Wilms' tumour). This multigenic disorder is caused by dysregulation of the expression of imprinted genes in the 11p15 chromosomal region. It may involve paternal uniparental disomy (UPD), loss of imprinting of the IGF2 gene, maternal inherited translocations and trisomy with paternal duplication. Recently, a small proportion of BWS patients has been shown to have a mutation in the paternal imprinted p57(KIP2) gene, which encodes a cyclin-dependent kinase inhibitor and negatively regulates cell proliferation. We screened for p57(KIP2) gene mutations in 21 BWS patients with no 11p15 UPD in leucocyte DNA. All patients had a phenotype typical of BWS. We analysed the entire coding sequence of p57(KIP2), including intron-exon boundaries, by direct sequencing of five PCR-amplified fragments. No mutation was found in the p57(KIP2) gene. Our results are consistent with those of previous studies showing that mutation of p57(KIP2) is infrequent in BWS. Thus, other mechanisms of p57(KIP2) silencing (imprinting errors) and/or other 11p15 genes are probably involved in the pathogenesis of BWS.

Beckwith-Wiedemann Syndrome↗
PubMed1999

Functional analysis of the intergenic regions of TcP2beta gene loci allowed the construction of an improved Trypanosoma cruzi expression vector.

TcP2beta ribosomal protein genes in Trypanosoma cruzi are encoded by four different loci, H6.4, H1.8, H1.5 and H1.3. All loci have a similar organization, except for H1.8 that harbors two TcP2beta genes arranged in tandem and separated by a short repetitive sequence, named SIRE (short interspersed repetitive element), which is also found upstream of the first gene of the tandem and downstream of the second. In this locus the trans-splicing signal of TcP2beta is located within the SIRE element, while in the other loci it is positioned within the first 50bases upstream of the AUG with an AG acceptor site at position -12 respective to the initiation codon. Transient transfection experiments were used to evaluate the efficiency of these two different trans-splicing regions to drive CAT activity. The region named HX1 located upstream the TcP2beta H1. 8 gene was clearly more efficient than the SIRE sequence contained in the region named HX2. Therefore, we decided to use the HX1 region to ameliorate the performance of the cryptic trans-splicing signal present in the T. cruzi expression vector pRIBOTEX (Martinez-Calvillo, S., López, I., Hernandez, H., 1997. pRIBOTEX expression vector: a pTEX derivative for a rapid selection of Trypanosoma cruzi transfectants. Gene 199, 71-76). By insertion of the region HX1 downstream of the ribosomal promoter of pRIBOTEX, we constructed pRHX1CAT40 that, in stable transfected cells, was able to drive CAT activity 2760 times more efficiently than the control plasmids. Based on this, a novel plasmid vector was conceived, named pTREX-n, which retains the neo gene of pRIBOTEX as a positive selectable marker and replaces the CAT-SV40 cassette in pRHX1CAT40 by a multiple cloning site.

Animals↗
PubMed1999

Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait.

van der Woude syndrome (vWS, MIM 119300) is a rare autosomal dominant clefting condition with cardinal features of mucous cysts (lower-lip pits) and clefts to the lip and/or palate. The vWS gene has been assigned to a locus in 1q32-q41 by linkage analysis and physical mapping. We have investigated 5 novel vWS families through probands attended for cleft lip and/or palate repair at the Department of Maxillofacial Surgery of Hôpital Trousseau, Paris, in order to tentatively refine the genetic map of the vWS region in 1q32-q41 and possibly identify unlinked pedigrees. Linkage analysis was carried out to 6 microsatellite markers (D1S249, D1S425, D1S491, D1S205, D1S414, D1S425), yielding a maximum cumulative LOD score of Z = 3.27 at theta = 0.00 for D1S245. The innermost four markers were found to be tightly linked to one another, with no evidence for recombination. Our results support linkage of vWS within a region of tightly linked markers and do not favour locus heterogeneity of the disease trait.

Chromosome Mapping↗
PubMed1999

[Circumscribed mandibular osteitis in children due to hematogenous dissemination. Apropos of 5 clinical cases].

In children, mandibular swelling associated with an X-ray bone osteolysis may correspond to tumoral or infection diseases. Circumscribed osteitis of a child's mandibula, with no dental etiology occurs around 7-years of age, adjacent to a healthy first molar. Five cases reports were analyzed. Clinically, it is a bone swelling of the mandibula's lateral cortical associated with a soft tissue swelling. X-ray signs were not specific but all cases showed a bone lacuna with sharp outlines. Such clinical and X-ray signs strongly suggest diagnosis of osteitis which has a higher incidence than malignant tumors. The lack of dental pathology suggests bloodstream dissemination from another localized sepsis. Surgical removal of pathologic bone in addition to antibiotics (6 or 8 weeks) appears to be an effective treatment.

Amoxicillin↗