[Prosthetic reconstructions of grave mutilations of the face].
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Biomedical subjects
Publications and source records attributed to P Nucci.
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PURPOSE: When, at birth, the eyelid margin is rolled inward against the globe, the condition is referred to as congenital entropion. Upper eyelid involvement is commonly associated with a tarsal abnormality, while lower eyelid entropion is often associated with epiblepharon. Entropion does not resolve spontaneously, and may cause corneal pathology if untreated. The purpose of this study is to compare the two common techniques for the correction of congenital entropion. METHODS: The authors performed a pilot study of 24 consecutive patients with lower bilateral congenital entropion to compare the results of incisional versus rotational surgery. RESULTS: The rotational procedure was carried out in 14 patients; incisional surgery was performed in 10 patients. Twenty-one patients had good functional and cosmetic results. There were only three case of relapse after 3, 4, and 3 months. CONCLUSIONS: The authors consider both techniques satisfactory, but the procedure of choice, considering the age of the patients and previous studies, remains rotational sutures because of its simplicity, quickness, and low risk of complication.
We describe a case of a four year-old boy, with congenital ectopia lentis et pupillae, who developed patchy unilateral depigmentation of the skin, hair and lashes. The association between ectopia lentis et pupillae and transillumination of the iris is well documented in the literature, but it has never been reported with skin hypopigmentation.
Neuron-specific enolase (NSE) is a unique form of the glycolytic enzyme enolase found exclusively in neurons and neuroendocrine tissues. Immunohistochemical techniques in which antineuron-specific enolase antibodies are used have made it possible to map out derivatives of the neural crest in humans. By using affinity-purified antibodies against NSE, we investigated whether the contribution of the neural crest cells to the development of the anterior ocular structures in the rat is similar to that in man. We found that filtration structures in rats show morphologically striking similarities with the analogous region of the human eye. Hence, the rat eye, with certain reservations, is a suitable model for experimental studies on ocular diseases that are characterized by chamber angle anomalies or congenital glaucoma.
The authors report a child with a phenotype typical of a first branchial arch defect. The patient has a balanced translocation involving chromosome 2. They propose a defect that has occurred during the translocation in a gene mapped to chromosome 2 and belonging to the HOXD family. HOX gene defects can perturb the expression of other genes important for head development.
Pigmented paravenous retino-choroidal atrophy (P P R C A) is a rare retinal disease characterized by bilateral patches of pigment and areas of chorioretinal atrophy distributed along the veins. The authors present a 21-year-old male with pigmented paravenous retinochoroidal atrophy and unilateral macular dysplasia. To their knowledge, this is the second reported case of macular involvement. They believe that such association is not occasional, but may be suggestive of a variable expressivity of the disease.
Fifty-nine children 1 to 24 months of age with congenital nasolacrimal duct obstruction (CNDO) were treated with local hydrostatic massage and antibiotic eye drops. Children 1 to 12 months of age showed a cure rate of 93.3%; only two of them underwent nasolacrimal probing. Children 13 to 24 months of age had a cure rate of 79.3%, and six underwent probing. The initial probings were successful in both age groups. Fifty-one children (86.4%) were thus spared nasolacrimal probing.
PURPOSE: The diagnostic hallmark of Coats' disease is development of "light bulb" telangiectasis in the retinal periphery, leading to posterior pole intraretinal and subretinal exudation. Even after complete obliteration of all abnormal vessels and resorption of all exudates, follow-up examinations are mandatory for several years. METHODS: We retrospectively analyzed the charts, pictures and/or fluorescein angiographies of a series of 32 consecutive patients, in which the diagnosis of Coats' disease was made. All patients underwent selective photocoagulation of the telangiectasis using a yellow-dye laser. Efficacy of treatment was monitored with drawings and/or fluorescein angiographies. RESULTS: All our patients had unilateral disease, with macular involvement and exudative retinal detachment. Visual acuity improved in one patient, decreased from light perception to blindness in another, and was unchanged in the remainder. CONCLUSIONS: This is the first report of anatomical benefits from treatment with a yellow-dye laser (i.e., selective photocoagulation without cryotherapy or drainage) despite the presence of a severe form of Coats' disease. Our young Coats' patients responded quickly to treatment. With successful obliteration of the abnormal vasculature, exudates began to absorb in about 4 to 8 weeks although, in some cases, 10 to 12 months were needed to obtain resolution of the exudative detachment. Poor visual outcome of 20/100 or worse was common. In Coats' patients, the key issue is continuous control and long-term follow-up.
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Tissue location and biochemical aspects of the enolase, enzyme belonging to the glycolytic pathway, are presented. Embryological applications of the dimer gamma-gamma (Neuronal Specific Enolase) as a biological marker of the neuroectodermal derivatives is discussed. The authors stress the clinical importance of the NSE in the early detection of tumors.