Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease.

The MYO7A gene encodes a motor protein with a key role in the organization of stereocilia in auditory and vestibular hair cells. Rare variants in the MYO7A (myosin VIIA) gene may cause autosomal dominant (AD) or autosomal recessive (AR) sensorineural hearing loss (SNHL) accompanied by vestibular dysfunction or retinitis pigmentosa (Usher syndrome type 1B). Familial Meniere's disease (MD) is a rare inner ear syndrome mainly characterized by low-frequency sensorineural hearing loss and episodic vertigo associated with tinnitus. Familial aggregation has been found in 6-8% of sporadic cases, and most of the reported genes were involved in single families. Thus, this study aimed to search for relevant genes not previously linked to familial MD. Through exome sequencing and segregation analysis in 62 MD families, we have found a total of 1 novel and 8 rare heterozygous variants in the MYO7A gene in 9 non-related families. Carriers of rare variants in MYO7A showed autosomal dominant or autosomal recessive SNHL in familial MD. Additionally, some novel and rare variants in other genes involved in the organization of the stereocilia links such as CDH23, PCDH15 or ADGRV1 co-segregated in the same patients. Our findings reveal a co-segregation of rare variants in the MYO7A gene and other structural myosin VIIA binding proteins involved in the tip and ankle links of the hair cell stereocilia. We suggest that recessive digenic inheritance involving these genes could affect the ultrastructure of the stereocilia links in familial MD.

[Oculomotor response to the vertical cephalic autorotatory test in patients with benign paroxistic positional vertigo of the posterior canal]. / Respuesta oculomotora al test de autorrotación cefálica vertical en pacientes con vértigo posicional paroxístico benigno del conducto posterior.

OBJECTIVE: To evaluate the eye movement response to the head auto-rotation test (HART) in the vertical plane in patients with benign paroxysmal positional vertigo. DESIGN: A transversal, descriptive study. SETTING UP: Outpatient clinic in a general Hospital. INDIVIDUALS: 34 posterior canal BPPV cases with a video-oculographic diagnosis, older than 18 years old, 7 of them were not able to perform the HART. INTERVENTION: HART was performed by a an electrooculographic system with simultaneous recording of head movement by an acelerometer in the vertical plane (Vorteq, Micromedical Instruments). The HART with eyes fixation was performed 3 times to determine its reliability. MAIN OUTCOME MEASURES: Gain, asymmetry and phase for the vertical VOR respectively. A statistical analysis was carried out to determine the test reliability and the number of individuals with an abnormal result. RESULTS: Gain is the only variable that showed a reproducible result in the HART for the active head movement at 1-2 Hz (test-retest reliability 0.83-0.89). The values of gain showed a moderate correlation at the frequencies 1-3 Hz (correlation 0.60-0.87). Asymmetry and phase were not reproducible variables (correlation < 0.55). Thirteen of 27 (48%) patients presented a decrease of the vertical gain, another 13 showed normal values and one case showed raised values. CONCLUSION: Gain is the only useful variable in the vertical HART. Forty-eight percent of patients with posterior canal BPPV have a reduced vertical gain, suggesting an impairment of inferior vestibular nerve function.

[Tonsillectomy by electrical dissection: risk factors of postoperative hemorrhage in children]. / Amigdalectomía por electrodisección: marcadores de riesgo de hemorragia postoperatoria en niños.

OBJECTIVE: To identify pre or intraoperative risk factors that could indicate a higher risk for post-tonsillectomy hemorrhage (PTH) in children undergoing electrocautery dissection. SET-UP: Primary referral hospital. DESIGN: A retrospective study of 163 post-tonsillectomy children comparing 7 cases of PTH with 156 cases with no PTH. SAMPLE: This study includes children under the age of 18 that underwent tonsillectomy by dissection between 1997 and 2000. OUTCOME PARAMETERS: Age, sex, height, weight, body mass index, hemoglobin level, hematocrit, platelet count activated partial thromboplastin time (APTT), fibrinogen, ASA index (physical state classification of the American Society of Anesthesiology) and type of hemostasis. RESULTS: Prevalence of PTH was 4.29% in the cohort sample. The risk of PTH in children following tonsillectomy by electrodissection is significantly increased in patients over 15 years of age (OR = 8.46, p = 0.04) and when ligatures are used for hemostasis (OR = 8.62, p = 0.02). Activated partial thromboplastin time > or = 32 seconds is marginally significant (OR = 7.82, p = 0.05). CONCLUSIONS: Our findings show that tonsillectomy by electrodissection has an increased risk of bleeding in older children and when ligatures are used for hemostasis.

[Evaluation of the treatment of benign paroxysmal positional vertigo with the DHI-S questionnaire]. / Evaluación del tratamiento del vértigo posicional paroxístico benigno mediante el cuestionario DHI-S.

Benign paroxysmal positional vertigo (BPPV) is a recurrent chronic disease and its handicap is usually underestimated. The aim of this study is to determine the impact of the treatment by Epley maneuver on short-term BPPV-related quality of life. Forty-two individuals with BPPV were included: 39 with posterior canal affected, 2 with the lateral canal and one with the anterior canal. Diagnosis was established if a consistent clinical history was found and Dix-Hallpike test (DHT) in cases with canal posterior involvement. Subjects with positive DHT were treated by a single Epley maneuver and were recommended to avoid supine for the next 48 hours. The BPPV relapses were investigated at 7th and 30th day post-treatment. BPPV-associated quality of life was evaluated by the Dizzness Handicap Inventory Short-form (DHI-S) at days 1st and 30th post-treatment. Total and partial scores for emotional, physical and functional subscales were compared by Wilcoxon test for paired samples. Dix-Hallpike test was found positive in el 59% individuals (23/39), and 41% cases did not required any treatment. Among 23 patients treated with Epley maneuver, DHT was found negative in 90% at 30th day follow-up. Mean and standard deviation of the total scores obtained in the DHI-S at the first day were 19.22 +/- 9.66 in the DHT positive-patients and 19.79 +/- 10.14 in the whole group (DHT positive or negative). These scores significantly decreased to 10.84 +/- 10.99 at 30 days post-treatment (p = 0.002 and p = 0.001, respectively). In conclusion, the DHI-S is a specific health questionnaire able to assess BPPV-related health and the effectiveness of treatment.

[Systematization of otorhinolaryngology training]. / Sistematización en la enseñanza de la otorrinolaringología.

Resident training in otorhinolaryngology is a continuous learning process which includes academic, clinical, and research activities, the purpose of which is to develop skilled specialists. To achieve this goal, systematic planning of the educational process is needed. Planning should contemplate establishing the aims of training, defining the instruments to be used to achieve these aims, and determining how results will be evaluated. We described our philosophy as regards planning the educational process in otorhinolaryngology training, and define and develop the content of the stages involved. In our opinion, systematic application of these principles would facilitate educational efforts, improve specialist training, and enhance the performance of future specialists.

[Open rhinoplasty: outcomes of 100 cases]. / Rinoplastia abierta: resultados de 100 casos.

Open rhinoplasty is a technique that allows a sharper evaluation of nasal deformities since a visual diagnosis may be done. We present a review of the cases in which an open rhinoplasty was performed in our department in the last five years. Preoperative and postoperative data are recorded in a standardized form in order to facilitate their analysis. The techniques used for each type of nasal deformity (dorsal and basal) are described and the results discussed.

[Thyroplasty in the treatment of functional or paralytic dysphonias]. / Tiroplastia en el tratamiento de algunas disfonías funcionales o paralíticas.

In phonosurgery, the laryngeal framework surgery, with several types of thyroplasty, allow a modification of the vocal function through an indirect action over the thyroid cartilage, without surgical invasion of the vocal fold tissues. We describe our experience and review the literature in this field.

[Hemangiopericytoma of the soft palate and mediastinum: a case report]. / Hemangiopericitoma de paladar blando y mediastino. A propósito de un caso.

We report a case of hemangiopericytoma with simultaneous affectation of soft palate and mediastinum in a 46-year-old male. We describe the outstanding histologic features of this uncommon tumor, as well as its treatment and evolution. This case had a 5-year survival in spite of pulmonary metastases. We also reviewed the literature and discussed this rare clinical presentation of hemangiopericytoma.

[Hemilaryngectomy of the supracricoid: experience of 58 cases. (Follow-up study for 5 years)]. / Hemilaringectomía supracricoidea: experiencia en 58 casos (seguimiento mayor de cinco años).

In the supracricoid hemilaryngectomy the wing of the thyroid and its internally related structures are resected. This is widely used in T2 glottic tumour. Some writers describe its use in limited ventricularis lesions. We have frequently used this technique in both types of lesions. In this paper 58 cases of patients operated on between 1974 and 1986 are reviewed, giving a follow-up period of more than five years. The results obtained, both oncological and functional, are good enough to make this technique basic in the treatment of laryngeal cancer.

[Anterior reconstructive glottecomy]. / Glotectomía anterior reconstructiva.

Shallow lesions of the glottis spreading to both sides of the middle line (T1b) have special characteristics under the viewpoint of its resection, because of the neighbourhood of the anterior commissure. Frontal and frontolateral techniques require a reconstructive step in order to avoid synechiae. The AA. report 35 cases with glottis reconstruction following several procedures: skin pedicled flap or epiglottoplasty. As the results almost the totality of the laryngectomees were "cured" after 5 years follow-up, and a high percentage of them free of tracheostomy tube.