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Biomedical subjects

G Couly

Publications and source records attributed to G Couly.

At least 19 recordsLinked to original sources
PubMed2006

[Diagnosis and management of cervicofacial congenital teratomas: about 4 cases, literature review and restatement].

Cervicofacial teratomas are rare developmental lesions, more often benign in their histology. They can lead to respiratory distress and death caused by airway obstruction at birth. Prenatal diagnosis raises on ultrasound examination precising locoregional consequences of the tumor and surgical possibilities. In the propitious cases, prenatal MRI examination is useful to precise tumor's limits and cerebral status of the foetus. At birth, coordinate management involving anaesthetists, paediatricians and specialized surgeons decrease morbidity and mortality. Complete early surgical excision must be managed as soon as possible and planned thanks to TDM end MRI examination.

Abortion, Induced↗
PubMed2001

A case of primitive floor of the mouth paraganglioma in a child: an embryological theory unifying viscerocranium appended paragangliomas.

BACKGROUND: Paragangliomas are unusual tumors in the head and neck originating from the paraganglia or glomus cells of neural crest origin. METHODS: We describe the first case of a primitive paraganglioma of the floor of the mouth presenting in childhood. RESULTS: Complete surgical removal was performed after embolization of the left lingual artery. There was no evidence of either persistent or recurrent disease 5 years after surgery. The embryologic and anatomic origins of head and neck paragangliomas are reviewed. CONCLUSIONS: An embryologic theory based on the common neural crest origin and migration pathways of both autonomic viscerocranium appended ganglias and paragangliomas is proposed that unifies the topographically heterogeneous group of viscerocranium-appended paragangliomas.

Child↗
PubMed2001

[Hemifacial microsomia. Embryological and clinical approach].

Hemifacial microsomia is an otomandibular dysplasia which includes congenital malformations affecting the jaw and ear apparatus. The knowledge of normal embryonic development is a prerequisite for optimal clinical management of those malformations. The development of craniofacial structures is a multi-step process, which involves many developmental events ranging from the migration of neural crest cells from the neural folds of the young neurula embryo to molecular signaling interactions that coordinate outgrowth and patterning of the facial primordia. Our current knowledge of craniofacial development is limited, but the use of animal developmental models will contribute significantly to our understanding of human otomandibular dysplasias. In this review we discuss both the classical and current aspects of otomandibular development. A clinical approach to hemifacial microsomia is proposed. Current pathogenetic hypotheses of hemifacial microsomia and also mandibulofacial dysostosis are reviewed.

Facial Asymmetry↗
PubMed2001

Pierre Robin sequence: a series of 117 consecutive cases.

A series of 117 cases of Pierre Robin Sequence are classified as isolated (48%), syndromic (35%), and with associated anomalies (17%); the latter group had a poor long-term prognosis. In isolated Pierre Robin Sequence, familial cases and a high incidence of twins were noted. Among syndromic Pierre Robin Sequence, 4 syndromes represent more than 50% of the diagnoses.

Child, Preschool↗
PubMed2001

Oroesophageal motor disorders in Pierre Robin syndrome.

BACKGROUND: Feeding disorders are one of the main clinical features in PRS, which combines a posterior U-shaped cleft palate, retrognathia, and glossoptosis. The aim of this study was to evaluate the oral and esophageal motor function of children with PRS without additional neurologic symptoms. METHODS: All children hospitalized with Pierre Robin syndrome either isolated (n = 27) or associated with Stickler syndrome (n = 8) were included. Clinical evaluation of their oroesophageal disorders and systematic esophageal manometry were performed. RESULTS: Feeding disorders were always present, but type of disorder varied from one child to another. Esophageal disorders were frequent and seemed to be resistant to classic gastroesophageal reflux treatment. Eighty-six percent of the children required nasogastric tube feeding for a mean duration of 8.6 months. Esophageal manometric abnormalities were noted in 50% of the children: lower esophageal sphincter hypertonia, failure of lower esophageal sphincter relaxation at deglutition, and esophageal dyskinesia. These clinical and manometric disorders showed a trend to spontaneous regression after 12 months. CONCLUSION: In the current Pierre Robin syndrome series, clinical and manometric anomalies of oroesophageal motility were always present. The authors identified an unusual manometric pattern that has also been described in situations of neurovegetative instability. It could reflect dysregulation of the control of the central pattern generators of swallowing in the brain stem.

Cleft Palate↗
PubMed2001

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.

The association of Hypertelorism, Microtia and Cleft lip and palate (HMC syndrome, MIM 239800) is a rare condition of autosomal recessive inheritance. A total of seven cases of HMC syndrome in five families have been hitherto reported. Here, we report two unrelated cases and put emphasis on the possible normal psychomotor development in this syndrome.

Child, Preschool↗
PubMed1999

Anterior cephalic neural crest is required for forebrain viability.

The prosencephalon, or embryonic forebrain, grows within a mesenchymal matrix of local paraxial mesoderm and of neural crest cells (NCC) derived from the posterior diencephalon and mesencephalon. Part of this NCC population forms the outer wall of capillaries within the prosencephalic leptomeninges and neuroepithelium itself. The surgical removal of NCC from the anterior head of chick embryos leads to massive cell death within the forebrain neuroepithelium during an interval that precedes its vascularization by at least 36 hours. During this critical period, a mesenchymal layer made up of intermingled mesodermal cells and NCC surround the neuroepithelium. This layer is not formed after anterior cephalic NCC ablation. The neuroepithelium then undergoes massive apoptosis. Cyclopia ensues after forebrain deterioration and absence of intervening frontonasal bud derivatives. The deleterious effect of ablation of the anterior NC cannot be interpreted as a deficit in vascularization because it takes place well before the time when blood vessels start to invade the neuroepithelium. Thus the mesenchymal layer itself exerts a trophic effect on the prosencephalic neuroepithelium. In an assay to rescue the operated phenotype, we found that the rhombencephalic but not the truncal NC can successfully replace the diencephalic and mesencephalic NC. Moreover, any region of the paraxial cephalic mesoderm can replace NCC in their dual function: in their early trophic effect and in providing pericytes to the forebrain meningeal blood vessels. The assumption of these roles by the cephalic neural crest may have been instrumental in the rostral expansion of the vertebrate forebrain over the course of evolution.

Animals↗
PubMed1998

Expression of the SOX10 gene during human development.

SOX10, a new member of the SOX gene family, is a transcription factor defective in the Dom (Dominant megacolon) mouse and in the human Shah-Waardenburg syndrome. To help unravel its physiological role during human development, we studied SOX10 gene expression in embryonic, fetal, and adult human tissues by Northern blot and in situ hybridization. As in mice, the human SOX10 gene was essentially expressed in the neural crest derivatives that contribute to the formation of the peripheral nervous system, and in the adult central nervous system. Nevertheless, it was more widely expressed in humans than in rodents. The spatial and temporal pattern of SOX10 expression supports an important function in neural crest development.

Blotting, Northern↗
PubMed1998

Determination of the identity of the derivatives of the cephalic neural crest: incompatibility between Hox gene expression and lower jaw development.

In addition to pigment cells, and neural and endocrine derivatives, the neural crest is characterized by its ability to yield mesenchymal cells. In amniotes, this property is restricted to the cephalic region from the mid-diencephalon to the end of rhombomere 8 (level of somites 4/5). The cephalic neural crest is divided into two domains: an anterior region corresponding to the diencephalon, mesencephalon and metencephalon (r1, r2) in which expression of Hox genes is never observed, and a posterior domain in which neural crest cells exhibit (with a few exceptions) the same Hox code as the rhombomeres from which they originate. By altering the normal distribution of neural crest cells in the branchial arches through appropriate embryonic manipulations, we have investigated the relationships between Hox gene expression and the level of plasticity that neural crest cells display when they are led to migrate to an ectopic environment. We made the following observations. (i) Hox gene expression is not altered in neural crest cells by their transposition to ectopic sites. (ii) Expression of Hox genes by the BA ectoderm does not depend upon an induction by the neural crest. This second finding further supports the concept of segmentation of the cephalic ectoderm into ectomeres (Couly and Le Douarin, 1990). According to this concept, metameres can be defined in large bands of ectoderm including not only the CNS and the neural crest but also the corresponding superficial ectoderm fated to cover craniofacial primordia. (iii) The construction of a lower jaw requires the environment provided by the ectomesodermal components of BA1 or BA2 associated with the Hox gene non-expressing neural crest cells. Hox gene-expressing neural crest cells are unable to yield the lower jaw apparatus including the entoglossum and basihyal even in the BA1 environment. In contrast, the posterior part of the hyoid bone can be constructed by any region of the neural crest cells whether or not they are under the regulatory control of Hox genes. Such is also the case for the neural and connective tissues (including those comprising the cardiovascular system) of neural crest origin, upon which no segmental restriction is imposed. The latter finding confirms the plasticity observed 24 years ago (Le Douarin and Teillet, 1974) for the precursors of the PNS.

Animals↗
PubMed1998

Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus.

OBJECTIVE: The objective of this study was to demonstrate that the branchiooculo-facial (BOF) syndrome is a cervicocephalic neural crest maldevelopment. RESULTS: Using an embryologic study, we linked the clinical features and the level of the neural crest deficiency. We report here two cases of BOF syndrome with a particular branchial cleft presenting as bilateral supernumerary thymus glands on the surface of the skin; one of the cases was associated with tetralogy of Fallot. One patient underwent lip reconstruction at 4 months, combined with excision of bilateral auricular pits and superior labial fistula. The other patient had a surgical correction of the tetralogy of Fallot, and at 2 months, the two stages of the lip reconstruction were performed, combined with bilateral auricular pit excision. Both patients have shown normal developmental patterns to date. CONCLUSION: The BOF syndrome must be considered as a neurocristopathy at different levels, with a tiny mesencephalo-prosencephalic lesion and a severe rhombencephalic lesion that includes seven consecutive hindbrain segments, from rhombomere 2 to rhombomere 8.

Branchio-Oto-Renal Syndrome↗
PubMed1998

Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature.

We present an antenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) mainly associates defective costal development with features of the Pierre-Robin syndrome. The diagnosis is very often made at birth and the prognosis is very poor. Antenatal ultrasound examination may show a combination of orofacial and chest maldevelopment. In our case the diagnosis was made at 20 weeks' gestation during a routine ultrasound examination and the patient chose to terminate the pregnancy at 24 weeks.

Abnormalities, Multiple↗
PubMed1997

SOX22 is a new member of the SOX gene family, mainly expressed in human nervous tissue.

SOX (SRY box-containing) genes share a particular DNA-binding domain, called HMG, with the mammalian testis-determining gene SRY Several SOX genes have already been shown to be transcription factors involved in the decision of important cell fates during development. Here we report the cloning of a new human member of the SOX gene family, SOX22. The corresponding protein contains several domains that are also present in other paralogous SOX proteins. The SOX22 gene maps to chromosome 20 on band p13 and does not appear to be clustered with any other SOX gene mapped to date. SOX22 mRNA is expressed in various fetal and adult organs and tissues, suggesting that this gene plays roles in both differentiation and maintenance of several cell types.

Age Factors↗
PubMed1997

[Neuroglial heterotopia. Apropos of 8 cases with non-nasofrontal sites].

Neuroglial heterotopia, glioma, is an uncommon congenital nervous tissue tumor, usually found in a nasofrontal localization. About 60 cases with an atypical localization, usually in the pterygomaxillary fossa have been reported. We present 8 cases. Symptomatology followed CT-scan or MRI identified localization and was helpful in orienting diagnosis before biopsy. Exeresis was difficult, particularly in deep infratemporal localizations reaching the base of the skull. The main risk is recurrence. Different surgical approaches have been discussed and should be adapted to each case.

Choristoma↗
PubMed1997

[Use of iterative expansion in the early surgical treatment of complex nevi of the head in children].

Extensive of congenital pigmented nevi to the face in an infant is an indication for early exeresis to prevent the risk of degeneration. Search for the best esthetic result has led many authors to healthy skin to a maximum, often relying on tissue expansion. The aim of this study was to present the combination of two expansion techniques, prosthetic expansion and differed natural expansion. Five infants with congenital pigmentary nevi extending to more than 50% of a facial anatomic unit were treated. Total treatment was achieved in all patients with three or four procedures. By combining different expansion techniques early treatment can be proposed with good esthetic results and moderate cost.

Child↗
PubMed1997

[Infra-orbital nerve block in early primary cheiloplasty].

A prospective study have studied the effect of infraorbital block during anesthesia in infants with a cleft lip. The study was conducted during the year 1994, in the hospital Necker Enfants-malades. During this period 51 cleft lip surgery were performed. Anesthesia for infants with cleft lip using bilateral infraorbital block is a safe, simple and quick technique, and result in a good longlasting analgesia, seems to decrease the risk of respiratory depression, and allows an immediate and comfortable awakening.

Analgesia↗