Manga traqueal cartilaginosa. Reporte de dos casos / Tracheal cartilaginous sleeve. Report of two cases

La manga traqueal cartilaginosa es una malformación de la vía aérea donde no se distinguen anillos traqueales. Un segmento continuo de cartílago se extiende desde el cricoides, pudiendo llegar hasta los bronquios principales. Está asociada a síndromes de craneosinostosis con la mutación FGFR2, además de muertes prematuras por oclusión de la tráquea con tapones mucosos. Se presenta el curso clínico de pacientes portadores de manga traqueal cartilaginosa en el contexto de una malformación craneofacial. Caso 1. Masculino, al nacer hipoplasia del tercio medio facial. Polisomnografía: índice de apnea/hipopnea de 37,7/hr. Laringotraqueobroncoscopía (LTBC): tráquea sin anillos cartilaginosos desde cricoides hasta bronquios fuentes. Se indica traqueostomía. Caso 2. Masculino, al nacer cráneo en trébol. Poligrafía: Síndrome de apnea/hipopnea obstructiva del sueño (SAHOS) leve. Revisión vía aérea: desde subglotis hasta bronquios principales se extiende tráquea en manga. Se indica traqueostomía. En el contexto de una craneosinostosis en niños, especialmente con mutación FGFR2, creemos necesario realizar una LTBC en búsqueda de manga traqueal, ya que si es diagnosticada se debe recomendar traqueostomía, mejorando su expectativa de vida. Si la indicación de traqueostomía fuese por SAHOS, es obligatoria una LTBC preoperatoria, para evitar el no tener referencias anatómicas en el proceso.

A tracheal cartilaginous sleeve is a malformation of the airway in which the tracheal rings are indistinguishable. A continuous segment of cartilage extends from the cricoid, and it may reach all the way to the main bronchi. It is associated with various craniosynostosis syndromes with the FGFR2 mutation, in addition to premature deaths due to occlusions caused by mucus plugs in the trachea. Here we present the clinical course of patients who suffer from Tracheal Cartilaginous Sleeve in the context of a craniofacial malformation. First case. Male, presenting at birth a midfacial hypoplasia. Polysomnography: presents a 37,7/h index of apnea/hypopnea. Laryngotracheobronchoscopy (LTB): trachea is without cartilaginous rings from the cricoid to the main bronchi. A tracheostomy is indicated. Second case. Male, cloverleaf skull at birth. Polysomnography: Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS) non-severe degree. Revision of the airway: the trachea in sleeve extends from the subglottis to the main bronchi. A tracheostomy is indicated. In the context of craniosynostosis in children, especially with FGFR2 mutation, we believe it is necessary to do an LTB in the search of a tracheal sleeve, since if it is diagnosed a tracheostomy must be indicated, to better the life expectancy of the patient. If the tracheostomy indication comes from an OSAHS, a preoperatory LTB is obligatory to avoid not having anatomical references during the procedure.

Eversão da cartilagem da terceira pálpebra em um gato / Eversion of the third eyelid cartilage in a cat

Background: Eversion of the cartilage of the third eyelid is a rare congenital disease in cats. It is caused by the anterioreversion of the cartilage edge of the third eyelid. Clinical signs may be associated with secondary keratoconjunctivitis,third eyelid gland protrusion, and ocular surface irritation. The diagnosis is made by ophthalmic examination, and treatment consists of surgical resection of the everted cartilage portion. The goal of the present study was to report a case ofeversion of third eyelid cartilage in a cat, given that it is an unusual abnormality in this animal species, and an importantdifferential diagnosis to be considered in the disorders of the third eyelid.Case: A 6-year-old neutered female Persian cat was presented with a presumptive diagnosis of protrusion of the thirdeyelid gland, history of ocular irritation, and epiphora in the left eye. The disorder had been intermittently present sincethe animal was 1-year-old, with spontaneous disappearance after approximately 15 days. The owner related the reappearance of the disorder to stressful situations, with no previous history of trauma or other ocular alteration. During theophthalmic examination, suspended solute was observed through biomiscroscopic examination in both eyes, as well asan increase in volume of the third eyelid in the left eye, without other changes. A thorough examination, under generalanesthesia, indicated the protruding volume of the cartilage of the everted third eyelid. The third eyelid was pleated inits upper portion, demonstrating that the cartilage of the third eyelid was folded instead of following the curvature of theocular surface. Under general anesthesia, the cartilage was partially removed through two parallel incisions on the bulbarconjunctival surface, divulsioning 5 mm in length in the vertical portion of the cartilage in a ‘T shape, and separating the...(AU)

Eversão da cartilagem da terceira pálpebra em um gato / Eversion of the third eyelid cartilage in a cat

Background: Eversion of the cartilage of the third eyelid is a rare congenital disease in cats. It is caused by the anterioreversion of the cartilage edge of the third eyelid. Clinical signs may be associated with secondary keratoconjunctivitis,third eyelid gland protrusion, and ocular surface irritation. The diagnosis is made by ophthalmic examination, and treatment consists of surgical resection of the everted cartilage portion. The goal of the present study was to report a case ofeversion of third eyelid cartilage in a cat, given that it is an unusual abnormality in this animal species, and an importantdifferential diagnosis to be considered in the disorders of the third eyelid.Case: A 6-year-old neutered female Persian cat was presented with a presumptive diagnosis of protrusion of the thirdeyelid gland, history of ocular irritation, and epiphora in the left eye. The disorder had been intermittently present sincethe animal was 1-year-old, with spontaneous disappearance after approximately 15 days. The owner related the reappearance of the disorder to stressful situations, with no previous history of trauma or other ocular alteration. During theophthalmic examination, suspended solute was observed through biomiscroscopic examination in both eyes, as well asan increase in volume of the third eyelid in the left eye, without other changes. A thorough examination, under generalanesthesia, indicated the protruding volume of the cartilage of the everted third eyelid. The third eyelid was pleated inits upper portion, demonstrating that the cartilage of the third eyelid was folded instead of following the curvature of theocular surface. Under general anesthesia, the cartilage was partially removed through two parallel incisions on the bulbarconjunctival surface, divulsioning 5 mm in length in the vertical portion of the cartilage in a ‘T’ shape, and separating the...

Síndrome hipoplasia cartílago-cabello: reporte de caso / Cartilage-hair hypoplasia syndrome: a case report

El síndrome hipoplasia cartílago cabello también conocido como condrodisplasia Metafisiaria tipo Mc Kusickes una enfermedad autosómica recesiva que presenta múltiples manifestaciones fenotípicas, tales como talla baja con miembros cortos, alteraciones osteocondrales, extremidades cortas, vello corporal y cabello fino y escaso, piernas relativamente cortas con arqueamiento de los fémures, manos cortas y uñas pequeñas, defectos variables en la inmunidad celular y predisposición a una variedad de neoplasias. El manejo médico de estos pacientes requiere un enfoque multidisciplinario con especialistas en hematología, genética, nutrición y estomatología pediátrica. Se reporta el caso de un paciente con este síndrome al cual fue rehabilitado en el servicio de Odontopediatría del Departamento de Estomatología del Hospital Infantil de México Federico Gómez.

Kusick type is an autosomal recessive disease, has multiple phenotypic manifestations such as hypoplastic hair, short stature, osteochondral abnormalities, short limbs, fine and sparse hair, thin body hair scares relatively short legs with bow femurs, short hands and nails small defects in cellular immunity variables and predisposition to a variety of neoplasm. Management of these patients requires a multidisciplinary approach with specialists in hematology, genetics nutrition and pediatric dentistry. This case report describes phonotypical manifestations of patient with this syndrome who received dental treatment in the Pediatric Dentistry Service at Hospital Infantile de Mexico Federico Gómez .

Morphological deformities in the osseous structure in spotted sorubim Pseudoplatystoma coruscans (Agassiz & Spix, 1829) with vitamin C deficiency.

Vitamin C is essential for fish diets because many species cannot syntethize it. This vitamin is needed for bone and cartilage formation. Moreover, it acts as antioxidant and improve the immunological system. The present work investigated the effects of vitamin C diet supplementation to spotted sorubim (Pseudoplatystoma coruscans) fingerlings by frequency of bone and cartilage deformation. Ascorbyl poliphosphate (AP) was used as source of vitamin C in the diets for spotted sorubim fingerlings during three months. Six diets were formulated: one diet control (0 mg/kg of vitamin C) and 500, 1,000, 1,500, 2,000 and 2,500 mg AP/kg diets. Fishes fed without vitamin C supplementation presented bone deformation in head and jaws, and fin fragilities. Thus, 500 mg AP/kg diet was enough to prevent deformation and the lack of vitamin C supplementation worsening the development of fingerlings.

Thoracoscopic cartilage resection with partial perichondrium preservation in unilateral pectus carinatum: preliminary results.

BACKGROUND/PURPOSE: Although minimally invasive repair of pectus excavatum has gained worldwide acceptance, treatment of pectus carinatum is mostly performed with open procedures. Different minimally invasive alternatives have been proposed in the last few years, including subpectoral CO(2) dissection and intrathoracic compression (Abramson technique), or conservative procedures, as dynamic compression system. Recently, another surgical technique has been proposed for the treatment of unilateral pectus carinatum, consisting of a thoracoscopic approach and multiple cartilage incisions. The aim of this work is to present our modification to this approach. METHODS: We have modified this technique by introducing complete cartilage resection of all anomalous costal cartilages, performed thoracoscopically. Three thoracoscopic ports were used. Cartilage is removed progressively using a rongeur and preserving the anterior perichondrium. RESULTS: We have performed this technique in 4 patients during the last year. Follow-up ranged from 6 to 14 months. No intraoperative or postoperative complications were observed. The results, assessed by the patients themselves, were good in 2 cases, quite good in one, and fair in the first patient of our series, who was reoperated using a classical open approach. Pain was well controlled without the need of an epidural catheter. CONCLUSION: Thoracoscopic cartilage resection with perichondrium preservation can be considered as feasible alternative for the treatment of unilateral pectus carinatum.

Effects of velopharyngeal dysfunction on middle ear of repaired cleft palate patients.

OBJECTIVE: Cleft palates are strongly associated with the development of otitis media due to the anatomic and functional defect of the soft palate musculature and the associated alterations of velopharyngeal muscle insertion on tubal cartilage, or even intrinsic alterations of the cartilage, which affects eustachian tube function. This study will assess velopharyngeal muscle adequacy after palatoplasty through videonasoendoscopy and verify if there is a correlation with otologic status. DESIGN: Transversal study. SETTING: Otorhinolaryngology and cleft palate outpatient service of the Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil. PATIENTS: Seventy-three patients with cleft palate or cleft lip and palate between the ages of 6 and 12 years who had already undergone palatoplasty. INTERVENTIONS: Videonasoendoscopy for evaluation of velopharyngeal function and videotoscopy to assess middle ear status. MAIN OUTCOME MEASURES: Severity scale for videonasoendoscopic and videotoscopic findings. RESULTS: There was no significant correlation between the videonasoendoscopic and the videotoscopic scores in the population studied. DISCUSSION AND CONCLUSIONS: Intrinsic defects of the eustachian tube cartilage and of the insertion of the velopharyngeal muscles seem to contribute to the evolution of otitis media in patients with cleft palate, in addition to the actual defect of the soft palate. There was no correlation between the severity of the otoscopic findings and the degree of velopharyngeal dysfunction.

Estudo epidemiológico das alterações estruturais da cavidade nasal associadas à síndrome da apnéia e hipopnéia obstrutiva do sono (SAHOS) / Epidemiological analysis of structural alterations of the nasal cavity associated with obstructive sleep apnea syndrome (OSA)

OBJETIVO: Mostrar que alterações estruturais da cavidade nasal, como desvio do septo do nariz e a hipertrofia dos cornetos inferiores, são altamente incidentes em pacientes com síndrome da apnéia e hipopnéia do sono e devem ser abordados associados aos procedimentos específicos da síndrome. FORMA DE ESTUDO: Clínico retrospectivo. CASUíSTICA E MÉTODO: Realizamos um estudo retrospectivo em 200 pacientes, 196 homens e 4 mulheres, atendidos no ambulatório de otorrinolaringologia do Hospital Prof. Edmundo Vasconcelos e Unidade Paulista de Otorrinolaringologia, todos com controle polissonográfico, exame físico otorrinolaringológico, endoscópico e o tratamento cirúrgico com procedimentos nasais e faríngeos. RESULTADOS: Todos tiveram procedimento cirúrgico faríngeo: uvulopalatofaringoplastia ou uvulopalatoplastia, e no nariz: 176 septoplastias com turbinectomia parcial (88 por cento) e 24 turbinectomias isoladas (12 por cento), com resultados satisfatórios. CONCLUSÃO: Podemos concluir que as alterações estruturais da cavidade nasal têm alta incidência nos pacientes com SAHOS.

Epidemiological analysis of structural alterations of the nasal cavity associated with obstructive sleep apnea syndrome (OSA).

AIM: The objective of this paper is to demonstrate that structural alterations of the nasal cavity, e.g. septal deviation and conchal hypertrophy have high incidence in patients with sleep apnea and hypopnea syndrome and must be addressed with associated specific procedures of the syndrome. TYPE OF STUDY: Clinical retrospective. CASUISTIC AND METHOD: A retrospective study of 200 patients was performed, with 196 male and 4 female, attended at the otorhinolaryngology ambulatory of Hospital Prof. Edmundo Vasconcelos and Unidade Paulista de Otorrinolaringologia, all of them subjected to polysomnography, otorhinolaryngological physical exam, endoscopy exam, and surgical treatment with nasal and pharyngeal procedures. RESULTS: All of them were subjected to pharyngeal procedure: uvulopalatopharyngoplasty or uvulopalatoplasty and nose procedure: 176 septoplasty with partial turbinectomy (88%) and 24 isolated turbinectomy, with satisfactory results. CONCLUSION: We can see that structural alterations of the nasal cavity have high incidence in patients with OSA.

Increased incidence of cancer in patients with cartilage-hair hypoplasia.

OBJECTIVE: Previous reports have suggested an increased risk of cancer among patients with cartilage-hair hypoplasia (CHH). This study was carried out to further evaluate this risk among patients with CHH and their first-degree relatives. STUDY DESIGN: One hundred twenty-two patients with CHH were identified through 2 countrywide epidemiologic surveys in 1974 and in 1986. Their parents and nonaffected siblings were identified through the Population Register Center. This cohort underwent follow-up for cancer incidence through the Finnish Cancer Registry to the end of 1995. RESULTS: A statistically significant excess risk of cancer was seen among the patients with CHH (standardized incidence ratio 6.9, 95% confidence interval 2.3 to 16), which was mainly attributable to non-Hodgkin's lymphoma (standardized incidence ratio 90, 95% confidence interval 18 to 264). In addition, a significant excess risk of basal cell carcinoma was seen (standardized incidence ratio 35, 95% confidence interval 7.2 to 102). The cancer incidence among the siblings or the parents did not differ from the average cancer incidence in the Finnish population. CONCLUSIONS: This study confirms an increased risk of cancer, especially non-Hodgkin's lymphoma, probably attributable to defective immunity, among patients with CHH.

Reconstruçäo total e parcial da orelha nas patologias congênitas e adquiridas / Treatment of congenital and acquired ear deformities

Análise das modalidades de tratamento para reconstruçäo auricular nos casos de deformidades congênitas e adquiridas, adotando a conduta cirúrgica em dois tempos, e discutindo suas implicaçöes e resultados. Realizou-se uma revisäo de 85 casos operados na 38º enfermaria da Santa Casa de Misericórdia do RJ e Clínica Ivo Pitanguy, de 1983 a 1995, onde säo avaliados os resultados da técnica preconizada pelo autor sênior

Congenital absence of nasal bones.

Isolated congenital nasal malformation is rare; the isolated absence of any specific nasal structure is even rarer. They are related to craniofacial stenosis syndromes and to facial cleft, which are described in Tessier classification; also they can appear in 58 complex genetic syndromes. Nasal malformations may be acquired as a consequence of traumas, tumors, infectious diseases, or sequelae of aesthetic surgery. Gorham's syndrome is a rare disease that produces spontaneous and asymptomatic disappearance of any bone of the skeleton. In the world literature, there is no case of Gorham's syndrome with disappearance of the nasal bones. This case report is of a 20-year-old patient who sought correction of an aesthetic defect produced by a cartilaginous hump without the presence of the nasal bones. The absence of both nasal bones is produced by failure of the development of both centers of ossification. Through study of embryological development of the nasal structure, isolated absence of the nasal bones can be explained.

Hipoplasia cartílago-pelo: descripción de dos casos de origen mexicano / Cartilage-hair hypoplasia: two cases description of mexican origen

Se presentan dos niños mexicanos con hipoplasia cartílago-pelo y se describen sus particularidades clínicas destacando la rareza de este proceso.