PubMed Health⌕ Search

Biomedical subjects

E N Garabédian

Publications and source records attributed to E N Garabédian.

At least 19 recordsLinked to original sources
PubMed2006

[Slide tracheoplasty in congenital tracheal stenosis].

OBJECTIVES: Slide Tracheoplasty has progressively become the gold standard in the management of long-segment tracheal stenosis in children and infants. However, in certain situations this operation might become difficult and others techniques might be preferred. MATERIAL AND METHODS: Five patients, 1 to 6 month old had surgery by our team, for complex tracheal stenosis between 2001 and 2005. Tracheal hypoplasia was considered complex because it was associated to either: an acquired critical stenosis, a cricoid stenosis, a bronchial stenosis, a tracheal bronchus or associated to oesophageal atresia and severe tracheomalacia. All of them have been treated by a modified slide tracheoplasty. RESULTS: The postoperative status required an average of 15 days in ICU, including 8 days of ventilation. Two patients had laryngeal nerve injury. Medium term follow up (27 months) demonstrated no need for re-intervention, good potential growth and normal child activity. CONCLUSIONS: Slide tracheoplasty can provide good results in certain cases of severe and complex tracheal hypoplasia in infants.

Age Factors↗
PubMed2006

[Nasal glial heterotopia: embryological and clinical approaches].

INTRODUCTION: Nasal gliomas or heterotopia are nonhereditary congenital malformations composed of heterotopic neuroglial tissue. They usually present in infancy. Evaluation should include preoperative imaging with CT scan and/or MRI to rule out intracranial extension. There have been several cases reported in which nasal gliomas were misdiagnosed as capillary hemangiomas. The differential diagnosis includes prenasal space developmental impairment, which are nasoethmoidal meningoencephaloceles, nasal dermoid and epidermoid cysts. CASE REPORT: We describe the case of a newborn male infant presenting at birth with a paramedial nasal glioma. An embryological and clinical analysis of nasal gliomas is proposed. DISCUSSION: Nasal glioma is an uncommon congenital lesion presenting as a large panel of midline craniofacial anomalies. The embryological and anatomical origins of nasal gliomas are reviewed. The most known embryological theory was described by Grünwald in 1910 and is called the "prenasal space" theory. This theory is very attractive because of the embryopathogenic continuum proposed among dermoids, gliomas, and encephaloceles. In this article, we discuss major embryological theories on nasal gliomas pathogenesis and propose that while the prenasal space theory can explain the occurrence and the continuum between basal anterior or prenasal encephaloceles and gliomas, it cannot explain the occurrence of craniofacial demoids of the same topography. Better knowledge of embryological mechanisms implicated in the pathogenesis of nasal gliomas can help clinical management of this kind of malformations.

Choristoma↗
PubMed2005

Results of cochlear implantation in two children with mutations in the OTOF gene.

OBJECTIVE: The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should be considered: either an auditory neuropathy (a retrocochlear lesion) or an endocochlear lesion. It is essential to differentiate these two entities with regards to therapy and screening. PATIENTS: We report two children who presented with profound prelingual deafness, confirmed by the absence of detectable responses to auditory evoked potentials (AEP), associated with the presence of bilateral TEOAE. Genetic testing revealed mutations in OTOF, confirming DFNB9 deafness. Both patients have been successfully implanted (with a follow-up of 18 and 36 months, respectively). MAIN OUTCOME MEASURES: Clinical (oral production, closed and open-set words and sentences list, meaningful auditory integration scale), audiometric evaluation (TEOAE, AEP) before and after implantation, and neural response telemetry (NRT). RESULTS: Both patients present a good quality of clinical responses and electrophysiological tests after implantation, indicating satisfactory functioning of the auditory nerve. This confirms the endocochlear origin of DFNB9 and suggests that these mutations in OTOF lead to functional alteration of inner hair cells. CONCLUSION: In the absence of a context of neurological syndrome, the combination of absent AEP and positive TEOAE should lead to a genetic screening for mutations in OTOF, in order to undertake the appropriate management.

Audiometry↗
PubMed2003

[Clinical and embryological approaches to nasal dermoid sinus cysts].

Nasal dermoid sinus cyst (NDSC) is an uncommon congenital lesion presenting as a large panel of midline craniofacial anomalies. Thirty children with nasal midline masses and/or sinus ostia were surgically treated in the pediatric ENT and cervicofacial surgery department of Trousseau's children's hospital (Paris-France) between 1995 and 2002. All our patients underwent radiological evaluation including CT scan (including axial and coronal planes) and/or MRI (in all three planes) in search of intracranial extension. Thirteen of our patients presented with a midline cyst only, ten had nasal pit only, and seven had combined anomalies. Preoperative radiology and surgery showed an intracranial extension in 3 patients, which exhibited contact of the cyst with the dura. Recurrence being expected if any dermal tissues were left in place, "one-time-excision management" was the rule. CT and MR imaging features were reviewed. The external rhinoplasty procedure resulted in a wide surgical approach, low recurrence and good esthetic results. The embryological and anatomical origins of NDSCs are reviewed. Development of NDSC during embryological development implicates two necessary and sufficient conditions: competence of the ectodermal and mesectodermal cells to form dermoid tissue with epithelial-mesenchymal interactions, and a topographical site of ectodermal inclusion, which fits well with the various clinical presentations of NDSCs. We propose to distinguish NDSCs of anterior topography, located at the anterior skull base level from the basal NDSCs, located at the middle skull base level. We reviewed the various localizations of NDSCs, revisiting a forgotten embryological theory, which unify the various clinical localizations of anterior NDSCs.

Adolescent↗
PubMed2002

Hypogonadotrophic hypogonadism associated with prelingual deafness due to a connexin 26 gene mutation.

In Mediterranean countries, almost half the incidence of non-syndromic congenital hearing loss is caused by mutations in the gap junction (GJ) connexin 26 gene (GJB2/DFNB1 locus). In this form of deafness the cochlear defect is usually isolated. We describe here the first case of hypogonadotrophic hypogonadism in association with this particular cochlear defect. The male patient had moderate deafness inherited from his deaf parents. All family members had a homozygous 35delG mutation in the connexin 26 gene. This mutation accounts for 70% of all connexin 26 gene mutations. The patient was referred to a paediatric endocrinology unit at 11 years of age for moderate growth retardation. Growth rate was normal until 11 years. The patient then presented delayed puberty (testicular volume 4 ml, penis length 4 cm) and did not undergo the usual pubertal growth spurt. LH and FSH secretory responses to GnRH at the age of 14.5 years (bone age 13.5 years), were: LH baseline level 1.1 IU/l, peak 34 IU/l; FSH baseline level 1.8 IU/l, peak 5.7 IU/l. Testosterone concentration was <0.11 ng/ml. From 11 to 14 years old, testosterone concentration ranged from 0.11 to 0.2 ng/ml. Anti-Mullerian hormone (AMH) level was 38.6 ng/ml (normal for Tanner stage I), cortisol 109 ng/ml, and ACTH 37 pg/ml., Karyotype was 46 XY. On MRI analysis, the anterior pituitary and olfactory bulbs were normal. These data were consistent with partial hypogonadotrophic hypogonadism of hypothalamic origin, and the patient was treated with testosterone. This report supports the possible involvement of connexins in puberty initiation. Connexins may play a part in the co-ordination and synchronisation of GnRH release.

Adolescent↗
PubMed2001

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

OBJECTIVE: To evaluate difficulties encountered in genetic counseling in deaf children carrying connexin 26 gene (CX26 or GJB2) mutations. DESIGN: Prospective study. SETTING: Outpatients, tertiary referral center. PATIENTS: Ninety-six unrelated deaf children in whom CX26 mutations had been detected consecutively. Children were recruited to a center for genetic counseling for deaf children, and all had congenital deafness, sporadic or familial. RESULTS: In 63 children, deafness was clearly a DFNB1 form with autosomal recessive inheritance: 47 of the 63 were homozygous for the most frequent mutation, the deletion of G at position 35 (35delG); 16 of 63 carried on both alleles of CX26 frameshift or stop mutations, or missense mutations affecting a critical region of the gene. In 33 of 96 children, genetic counseling was difficult: 21 of 33 had a single mutation detected, 11 of 33 had new missense mutations or mutations whose pathogenicity remains debated in the literature, and 1 of 33 had a genotype with both a recessive mutation (35delG) and a mutation acting as a dominant mutation. CONCLUSIONS: Interpretation of results for the molecular diagnosis of mutations in the connexin 26 gene is difficult in almost one third of cases. Close collaboration between geneticists familiar with deafness and otolaryngologists is essential to provide a high standard of genetic advice.

Adult↗
PubMed2001

Tracheal dyskinesia associated with midline abnormality: embryological hypotheses and therapeutic implications.

Abnormalities of tracheal rigidity, which may lead to the collapse of the airway during expiration and consequent complications, characterize two groups of disorders: tracheomalacia (weakness of the anterior cartilaginous arc of the trachea) and tracheal dyskinesia (dysfunction of the posterior membranous trachea). Tracheal dyskinesia can either be isolated or associated with a more complex syndrome of malformations: esophageal atresia, tracheoesophageal fistula and laryngotracheal cleft. Although our knowledge of the embryological development of the tracheoesophageal axis remains limited, the existence of these associations suggests that tracheal dyskinesia is of congenital origin. The presentation of three clinical cases demonstrates that the coexistence of a midline malformation and of tracheal dyskinesia complicates the therapeutic management of the first malformation. In particular, the postoperative follow-up is often more difficult, and a long-term tracheostomy is often required (sometimes for several years). However, it must be pointed out that tracheal dyskinesia, even in the associated forms, has a good long-term prognosis, since spontaneous resolution as the child grows up is the rule.

Child, Preschool↗
PubMed2000

[Hereditary sensorineural deafness].

Deafness is the most common sensory defect. The investigation of the cause of deafness is critical for genetic counselling, and sometimes for appropriate management of associated pathologies. About two thirds of cases of congenital deafness are genetic forms, and the proportion is probably similar concerning the forms of deafness that appears during childhood. Some of the genetic forms are syndromic and the associated signs are sometimes inapparent or may appear during childhood. Consequently, a systematic search for the most frequent syndromes is necessary in each deaf individual. In the majority of genetic cases, deafness is the sole defect (non-syndromic deafness) and the major mode of transmission is autosomal recessive. The DFNB1 form of deafness, due to connexin 26 gene mutations, underlies half of the cases of non syndromic congenital deafness cases. The hearing loss has a prelingual onset, and it is most frequently severe or profound. There is no associated pathologies or radiological anomalies of the inner ear, and the vestibular tests are normal. The possibility of offering molecular diagnosis of connexin 26 gene defects is profoundly modifying daily medical practice in the investigation of the cause of deafness.

Connexin 26↗
PubMed2000

Use of the carbon dioxide laser for tracheobronchial pathology in children.

The carbon dioxide (CO2) laser has been used to treat tracheobronchial pathology for more than 20 years. It was initially employed in adults and now has been found to be useful in the treatment of certain lesions in children. We present our experience with this technique in 30 patients treated with a CO2 bronchoscopic laser from 1987 to 1995 in the Ear, Nose, and Throat Department of Armand Trousseau Hospital. Four different types of pathologies have been successfully treated with the laser: selective cases of tracheobronchial stenosis following trauma and/or secondary to neonatal ventilation, posttraumatic tracheobronchial granuloma (due to foreign bodies or tracheotomies), tracheobronchial granulomas of infectious origin (tuberculosis), and selective cases of tracheobronchial tumor.

Adolescent↗
PubMed1999

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

BACKGROUND: DFNB1, the locus of an autosomal recessive form of deafness due to mutations in the connexin-26 gene (CX26 or GJB2) is one of the most frequent hereditary defects in human beings. To date, no clinical characterisation of the DFNB1 inner-ear defects has been reported, which precludes the provision of prognostic information and genetic counselling. METHODS: We enrolled, in a prospective study, 140 children from 104 families affected by sensorineural deafness with various degrees of hearing loss. The children either belonged to a family affected by autosomal recessive deafness (DFNB family) or represented sporadic cases. We searched for mutations in the 5' non-coding exon and in the coding region of CX26. Audiometric and radiological features were investigated and compared in deaf children with and without CX26 mutations. FINDINGS: CX26 mutations were present in 43 (49%) of the 88 families with cases of prelingual deafness versus none of the 16 families with postlingual forms of deafness (p<0.01). The inner-ear defects of 54 prelingually deaf children with biallelic CX26 mutations were compared with the defects in 57 prelingually deaf children without CX26 mutations. DFNB1 deafness varied from mild to profound, associated with sloping or flat audiometric curves and a radiologically normal inner ear. Hearing loss was not progressive in 11 of 16 cases tested, and variations in the severity of deafness between siblings were common. INTERPRETATION: The characteristic audiometric and radiological features of DFNB1 should be the reference used to guide the investigation, by CX26 molecular diagnostic tests, of deaf children with a compatible phenotype. Prognostic information can now be given to families: the hearing loss in DFNB1 deafness is non-progressive in most cases, at least up to young adulthood. An important element for genetic counselling is that the severity of hearing loss due to DFNB1 is extremely variable and cannot be predicted, even within families.

Case-Control Studies↗
PubMed1999

Evolution of the bacteriologic features of persistent acute otitis media compared with acute otitis media: a 15-year study.

OBJECTIVES: To define the epidemiologic features of persistent acute otitis media (PAOM) and modifications of these features during the past 15 years and to investigate for possible differences in bacterial resistance between acute otitis media (AOM) and PAOM. DESIGN: Retrospective patient series. SETTING: Academic tertiary care center. PATIENTS AND METHODS: Persistent acute otitis media was defined as AOM lasting longer than 3 weeks despite 1 or several courses of antibiotic therapy, with the persistence of clinical and otoscopic signs of AOM. From 1982 to 1997, 475 children with PAOM were seen in our department. Every patient had 1 or several specimens of aspirations or swabs of spontaneous otorrhea (or both). Microbiologic characteristics of the isolated strains (including antibiotic susceptibility) were analyzed. Four successive series of specimens were analyzed-group 1: from October 1, 1982, to June 30, 1986 (136 patients); group 2: from January 1, 1987, to December 31, 1989 (165 patients); group 3: from January 1, 1992, to April 30, 1993 (73 patients); and group 4: from January 1, 1994, to January 31, 1997 (101 patients). During the same study periods, the bacteriologic results of patients with AOM in the same geographic region were recorded. MAIN OUTCOME MEASURES: A longitudinal comparison between the groups of patients with PAOM and a cross-comparison within each group between patients with PAOM and those with AOM. RESULTS: Obtaining repeated and multiple specimens from patients with PAOM led to a progressive decrease in the rate of sterile specimens, from 35.3% (group 1, 48 patients) to 14.9% (group 4, 15 patients) (P<.01). During this period, the prevalence of Streptococcus pneumoniae increased in patients with positive culture results, from 18.2% (group 1, 16 of 88 patients) to 44.2% (group 4, 38 of 86 patients) (P<.001). These strains rapidly and dramatically became resistant to penicillin (amoxicillin) (0% through 1989, 76.2% [16 of 21 patients] in 1993, and 97.4% [37 of 38 patients] in 1996) (P = .01). The overall prevalence of Haemophilus influenzae remained stable (between 31.4% [27 of 86 patients] and 45.4% [40 of 88 patients]), but the proportion of beta-lactamase-producing strains increased from 30.0% (group 1, 12 patients) to 55.6% (group 4, 15 patients) (P=.04). The prevalences of Pseudomonas aeruginosa and Staphylococcus aureus did not vary significantly (from 23.1% [group 2, 30 patients] to 10.7% [group 3, 6 patients] and from 10.2% [group 1, 9 patients] to 4.6% [group 4, 4 patients], respectively). Comparing data from patients with PAOM with those with AOM revealed that the increased resistance of H influenzae and, in particular, of S pneumoniae was more rapid and more marked in patients with PAOM than in those with AOM (highest rate of resistance in AOM: 36.0% [271 of 753 specimens] and 50.6% [398 of 787 specimens] for H influenzae and S pneumoniae, respectively; P<.001 for S pneumoniae). CONCLUSIONS: The increase in bacterial resistance frequently encountered during otitis media is even more marked in patients with PAOM. The identification of the organism is essential when the otitis does not resolve, especially in patients with PAOM. Obtaining repeated specimens helps to decrease the rate of sterile cultures.

Acute Disease↗
PubMed1999

Surgical removal of subglottic hemangiomas in children.

OBJECTIVE: To examine the indications and the results of surgical excision of severe subglottic hemangiomas. DESIGN: Retrospective study and case series. SETTING: Four academic tertiary care centers of pediatric otolaryngology. PATIENTS: Twenty children were included from 1991 to 1997. All presented with severe subglottic hemangiomas resistant to classical treatments such as corticosteroids and/or CO2 laser. INTERVENTION: Six children were operated on using laryngotracheal reconstruction and prolonged stenting by a reinforced Silastic roll and 14 children were operated on by a single-stage laryngotracheoplasty and postoperative intubation in a pediatric intensive care unit. RESULTS: All patients were successfully decannulated or extubated and have been free from recurrent hemangiomas. CONCLUSION: The surgery of severe subglottic hemangiomas is a reliable technique in selected patients and should be considered in corticoresistant or corticodependent, circular, or bilateral hemangiomas.

Child, Preschool↗
PubMed1999

Results of partial laryngectomy for benign neural tumors of the larynx in children.

The objective of this study was to assess the long-term results of partial laryngectomy for benign neural tumors of the larynx. We reviewed 8 patients with laryngeal involvement -- 7 with neurofibromatosis and 1 without -- treated between 1980 and 1994. The mean age was 6.5 years. A partial laryngectomy was performed in 7 cases. All the tumors were located in the aryepiglottic folds. Clinical, radiologic, and endoscopic follow-ups were used for evaluating recurrence. A good laryngeal airway, swallowing without aspiration, and voice quality were sought in assessing the functional results. Five patients had good functional results with no recurrences. One patient died of malignant transformation and metastatic dissemination of his disease. To summarize, partial laryngectomy is a relatively safe and effective procedure, even in childhood, for treating this rare localization of neurofibromatosis. A malignant transformation of the tumor is possible and carries a poor prognosis.

Adolescent↗
PubMed1998

Fourth branchial pouch anomalies: a study of six cases and review of the literature.

A retrospective study in the ENT departments of the Timone Children's Hospital in Marseille and the Armand Trousseau Hospital in Paris and a review of the literature was performed in order to update knowledge about fourth branchial pouch anomalies. Over the 12-year period studied, a total of six children were treated: three boys and three girls. The lesions were located on the left side in all cases and infection was the most common manifestation. Clinical presentation ranged from suppurative thyroiditis in most cases to stridor in a few newborns. The most useful diagnostic examinations are CT-scan of the neck and endoscopy of the pyriform sinus. The authors emphasize the need for complete surgical resection including the cyst and fistulous tract down to the pyriform sinus.

Branchial Region↗