Biomedical subjects
Publications and source records attributed to G Couly.
Post-operative functional rehabilitation of the orofacial region has greatly benefited from progress in orthophony. Technical know-how in pediatric patients can be adapted to the specific requirements of postoperative rehabilitation in children.
BACKGROUND: Brainstem dysfunction in newborns (BDN) is an association of symptoms originally described in the Pierre-Robin sequence. BDN is thought to result from a deficiency of the sucking and swallowing embryonic organization. POPULATION AND METHODS: Between 1983 to 1993, 48 infants without cleft palate were referred for suck and swallow abnormalities. They were considered to have BDN because they presented three of the four following criteria: neonatal suck and swallow difficulties; pharyngeo-oesophageal uncoordination with abnormal oesophageal manometria; upper airway obstruction, either clinically obvious or detected on laryngoscopy; vagal overactivity, either clinically obvious or detected during Holter recording with ocular compression. RESULTS: Among these 48 infants, 30 were affected with polymalformative syndrome often involving embryonic fields derived from the neural crest. Three infants had a conotruncal cardiac malformation and 15 had no associated malformation. These latter 15 infants presented with facial dysmorphic features including reciding chin, glossoptosis. U-shape palate and a vertical tongue. From birth or the first weeks of life, they had suck and swallow difficulties with various functional symptoms: slow baby bottle intake, cough or velo-pharyngeal incoordination, upper airway obstruction or apparent life threatening events (ALTE). Diagnosis was confirmed by both clinical observation and three simple investigations namely: laryngoscopy, oesophageal manometria and Holter recording with ocular compression. Ten children were nasogastric tube or gastrostomy fed, one had a tracheostomy and one had a nightly O2 supplementation. While the overall functional prognosis was good whatever the initial symptoms, 50% of these children had mental retardation, mostly moderate. CONCLUSION: Examination of short-term follow-up in these children has stressed that BDN requires a specific management of both nutritional and respiratory troubles. Finally, BDN should lead to the active search of an underlying polymalformative syndrome and to an accurate neurologic evaluation.
The mesencephalic and rhombencephalic levels of origin of the hypobranchial skeleton (lower jaw and hyoid bone) within the neural fold have been determined at the 5-somite stage with a resolution corresponding to each single rhombomere, by means of the quail-chick chimera technique. Expression of certain Hox genes (Hoxa-2, Hoxa-3 and Hoxb-4) was recorded in the branchial arches of chick and quail embryos at embryonic days 3 (E3) and E4. This was a prerequisite for studying the regeneration capacities of the neural crest, after the dorsal neural tube was resected at the mesencephalic and rhombencephalic level. We found first that excisions at the 5-somite stage extending from the midmesencephalon down to r8 are followed by the regeneration of neural crest cells able to compensate for the deficiencies so produced. This confirmed the results of previous authors who made similar excisions at comparable (or older) developmental stages. When a bilateral excision was followed by the unilateral homotopic graft of the dorsal neural tube from a quail embryo, thus mimicking the situation created by a unilateral excision, we found that the migration of the grafted unilateral neural crest (quail-labelled) is bilateral and compensates massively for the missing crest derivatives. The capacity of the intermediate and ventral neural tube to yield neural crest cells was tested by removing the chick rhombencephalic neural tube and replacing it either uni- or bilaterally with a ventral tube coming from a stage-matched quail. No neural crest cells exited from the ventral neural tube but no deficiency in neural crest derivatives was recorded. Crest cells were found to regenerate from the ends of the operated region. This was demonstrated by grafting fragments of quail neural fold at the extremities of the excised territory. Quail neural crest cells were seen migrating longitudinally from both the rostral and caudal ends of the operated region and filling the branchial arches located inbetween. Comparison of the behaviour of neural crest cells in this experimental situation with that showed by their normal fate map revealed that crest cells increase their proliferation rate and change their migratory behaviour without modifying their Hox code.
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On the basis of prenatal identification of a cleft lip by embryoscopy, a case of van der Woude syndrome was diagnosed at 11 menstrual weeks, allowing for early termination of pregnancy. The potential of embryoscopy to detect minor malformations in early pregnancy is discussed from both the technical and the ethical point of view.
We have used two molecular markers to label blood vessel endothelial cells and their precursors in the early avian embryo. One marker, called Quek1, is the avian homologue of the mammalian VEGF receptor flk-1 and the other is the MB1/QH1 monoclonal antibody. Quek1 is expressed in a subset of mesodermal cells from the gastrulation stage. Quek1 positive cells later form blood vessel endothelial cells and express the MB1/QH1 antigen which is specific for endothelial and hemopoietic cells of the quail species. These two markers allowed us first to show that the cephalic paraxial mesoderm has angiogenic potentials which are much more extended than its trunk counterpart (the somites). Secondly, the origin of the endothelial cells lining the craniofacial and head blood vessels was mapped on the 3-somite stage cephalic mesoderm via the quail-chick chimera technique, in which well defined mesodermal territories are exchanged between stage-matched embryos of both species in a strictly isotopic manner. We found that the anterior region of the cephalic paraxial mesoderm is largely recruited to provide the forebrain and the upper face with their vasculature. This means that large volumes of tissues are vascularized by a discrete region of the cephalic mesoderm, the fate of which is otherwise to give rise to muscles. The widespread expansion of the angiogenic cells arising from the anterior paraxial mesoderm must be related to the high growth rate of the anterior region of the neural primordium, yielding the telencephalon and of the neural crest-derived facial structures which are themselves devoid of angiogenic potencies.(ABSTRACT TRUNCATED AT 250 WORDS)
BACKGROUND: Trismus is caused by sustained contraction of the jaw-closing muscles. It is rare in the neonate and can be a part of developmental defects. PATIENTS AND METHODS: Twenty-four neonates, aged 1 to 12 days, were admitted from 1980 to 1992 because they suffered from trismus. All of them had severe difficulties of sucking and/or swallowing, some (12/24) had repeated episodes of apnoea requiring tracheotomy. Specialized investigations included transcutaneous PO2 and PCO2 monitoring, polygraphic recordings during sleep, 24-hour Holter monitoring, ocular compression test, barium swallow, manometry and 24-hour pH monitoring of the distal esophagus, electromyography of muscles involved in swallowing and several imaging techniques. RESULTS: Twenty-one patients had anomalies of the facies and brain stem dysfunctions. They were classified as Robin sequence (14 patients) with (five patients) or without (nine patients) micrognathia, cleft palate and glossoptosis, as Hanhart syndrome (four patients) and Moebius syndrome (three patients). The last three patients had arthrogryposis (two patients) and Stuve-Wiedeman syndrome. Twenty-two of 24 patients had severe gastroesophageal reflux, 15 of 20 had increased vagal reactivity and five of 24 had anomalies of the central nervous system. Eight patients died during the first year of life. CONCLUSION: Neonatal trismus is a poor prognostic sign, requiring specialized investigations and frequently resuscitation techniques.
The authors present a case of mandibular aneurysmal bone cyst with emphasis on the radiological aspects. The presence of fluid-fluid levels on CT and MR images is highly suggestive of ABC especially where there is no evidence of solid lesion. These findings help narrow differential diagnoses before making a therapeutic decision.
Infections with a dental origin are sometimes complicated with chronic osteoperiostitis and are seen clinically as a pseudotumour. We present a case together with the diagnostic and therapeutic approaches.
Temporomandibular joint ankylosis in children is responsible for facial growth disorder. A series of 30 cases is presented. Patients are aged from 3 months to 15 years (mean = 7.6 years). Infection is the most frequent etiology. Recurrence rate is higher in bilateral cases. Early surgical treatment followed by meconotherapy led us to 93% satisfactory results.
We report six cases of heterotopic neuroglial tissue of the face. All cases appeared at birth with a laterofacial mass and, in most cases, a respiratory disorder. The initial diagnosis has frequently been lymphangioma. But the rapidly growing character of the mass with resistance to high dose corticoid therapy, the fluid aspect at computerized tomography imaging with no connection to the central nervous system, and the presence of cerebrospinal fluid at the needle puncture were the most helpful features in narrowing the differential diagnoses. Patients were treated by surgical removal of the mass. The pathologic study showed the presence of neuroglial tissue. The management of the patients is discussed. The thirteen previous cases reported in the literature and our six cases lead to a discussion on the embryologic origin of this rare entity--the cephalic neural crest.
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Basal cephaloceles of the child are rare pathologies which require accurate preoperative imaging work-up. The CT and MR studies of six children with surgically proven basal cephalocele were retrospectively reviewed to evaluate the role of CT and MR in the preoperative work-up of a basal cephalocele of the child. In five patients, MR allowed to define the nature and topography of the cephalocele, and allowed an accurate depiction of the optic tract, ante- and post-hypophysis and associated agenesis of corpus callosum when present. 3-D CT allowed in one case a more precise depiction of the basal bony defect. MRI allows in a non invasive and non ionising way the best depiction of herniating meninges, brain or ventricles as well as associated cerebral anomalies.
When nacreous shell produced by the marine oyster Pinctada maxima, used as a biomaterial in oral surgery, is implanted in human bone, new bone formation occurs, resulting in a tight welding of the bone to the nacre [16]. These findings are consistent with the possibility that nacre adjacent to bone can locally stimulate osteogenic activity. To test this hypothesis, we have evaluated the effect of the simultaneous presence of bone and nacre on human osteoblasts in vitro. Nacre chips (1 mm3) were placed at approximately 1 mm distance from a similarly sized bone chip on a layer of first passage human osteoblasts. None of the chemical inducers generally required to obtain bone mineralization in vitro (in particular, beta-glycerophosphate) was added to the cultures. Mineralized sections of the cultures were evaluated by light and electron microscopy, contact microradiography, and Laser Raman Spectroscopy. The results demonstrated that nacre has strong osteogenic effects on human osteoblasts when placed in proximity to bone in vitro. New bone formation occurred by both appositional growth on the existing bone and by the formation of mineralized nodules within the matrix adjacent to the bone explant. Electron microscopic evaluation of these sites demonstrated findings typical of those described in the course of bone formation in vivo, and no evidence of toxicity was observed. In addition, under the conditions of culture used, nacre can also promote the formation by osteoblasts of a structure with characteristics similar to nacre (e.g., lamellar organic matrix mineralized with aragonite, as demonstrated by Laser Raman Spectroscopy).(ABSTRACT TRUNCATED AT 250 WORDS)
Three cases of melanotic neuroectodermal tumors of infancy are presented. Two were localized on the midline, involving the skull and extending subdurally. One was located on the inner aspect of the dura and developed intracranially. Two had a benign course following gross total removal. One had a malignant course, recurring locally and spreading within the brain. The difficulties of removing these tumors when they are implanted on the midline are stressed. Histological features of prognostic value are pointed out. Further support for neural crest origin of these tumors is given.
The term OFD syndrome designates a group of heterogeneous clinical patterns of which seven different types have been described. Type I, or Papillon Léage syndrome, is the most common pattern and the only type in which skin lesions occur. Type I OFD is a sex-linked dominant disorder. Two cases of OFD Type I with cystic lesions of the face are reported herein. The second patient also had polycystic kidneys. This combination has already been reported previously and all children with OFD should be investigated for polycystic kidney disease.
Harelip, facial cleft and cleft palate are frequent accidents of facial development. There is nothing special with their embryological mechanism, but their consequences concerning the future anatomy of the oral and nasal cavities are impressive. Owing to a better understanding of facial embryology and of the anatomical repercussions of the clefts, satisfactory morphological results can be obtained by surgical lip repair performed with an ever increasing precision.
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