Extended phenotype and clinical subgroups in unilateral Meniere disease: A cross-sectional study with cluster analysis.

OBJECTIVES: To define clinical subgroups by cluster analysis in patients with unilateral Meniere disease (MD) and to compare them with the clinical subgroups found in bilateral MD. DESIGN: A cross-sectional study with a two-step cluster analysis. SETTINGS: A tertiary referral multicenter study. PARTICIPANTS: Nine hundred and eighty-eight adult patients with unilateral MD. MAIN OUTCOME MEASURES: best predictors to define clinical subgroups with potential different aetiologies. RESULTS: We established five clusters in unilateral MD. Group 1 is the most frequently found, includes 53% of patients, and it is defined as the sporadic, classic MD without migraine and without autoimmune disorder (AD). Group 2 is found in 8% of patients, and it is defined by hearing loss, which antedates the vertigo episodes by months or years (delayed MD), without migraine or AD in most of cases. Group 3 involves 13% of patients, and it is considered familial MD, while group 4, which includes 15% of patients, is linked to the presence of migraine in all cases. Group 5 is found in 11% of patients and is defined by a comorbid AD. We found significant differences in the distribution of AD in clusters 3, 4 and 5 between patients with uni- and bilateral MD. CONCLUSIONS: Cluster analysis defines clinical subgroups in MD, and it extends the phenotype beyond audiovestibular symptoms. This classification will help to improve the phenotyping in MD and facilitate the selection of patients for randomised clinical trials.

Familial clustering and genetic heterogeneity in Meniere's disease.

The aims of this study were to estimate the prevalence of familial cases in patients with Meniere's disease (MD) and to identify clinical differences between sporadic and familial MD. We recruited 1375 patients with definite MD according to the American Academy of Otolaryngology-Head and Neck Surgery criteria, obtaining the familial history of hearing loss or episodic vertigo by direct interview or a postal survey in 1245 cases in a multicenter study. Familial clustering was estimated by the recurrence risk ratio in siblings (λs ) and offspring (λo ) using intermediate and high prevalence values for MD in European population. A total of 431 patients (34%) reported a familial history of hearing loss or recurrent vertigo and 133 patients had a relative with possible MD. After clinical reevaluation, 93 relatives in 76 families were diagnosed of definite MD (8.4%), including three pairs of monozygotic twins. λs and λo were 16-48 and 4-12, respectively. We observed genetic heterogeneity, but most families had an autosomal dominant inheritance with anticipation. No clinical differences were found between sporadic and familial MD, except for an early onset in familial cases. We may conclude that MD has a strong familial aggregation and that sporadic and familial MDs are clinically identical.

What is the optimal number of treatment sessions of vestibular rehabilitation?

Vestibular rehabilitation is effective and safe in patients with instability. However, there is insufficient evidence for distinguishing between efficacies of different dosage of therapies. Therefore, the aim of the present study was to verify whether there were differences between two computerised dynamic posturography (CDP) therapies of different numbers of sessions, in order to establish the optimal strategy. We conducted a prospective, comparative study of two different dosage of CDP therapy (a 5-session group and another of 10-session group) in patients with instability due to chronic unilateral peripheral vestibular disorder. We used balanced block randomisation to include 13 patients in each group. Improvement was assessed using the Dizziness Handicap Inventory and the CDP with the sensorial organisation test (SOT) and limits of stability (LOS). We found a statistically significant improvement in both groups in composite score, visual and vestibular input (SOT); and in reaction time, distance and directional control (LOS). If we compare the groups regarding these improvements, we found that 10-session group showed a greater benefit in distance covered and directional control of LOS. Since significant improvement is obtained with only five sessions, we believe this to be the optimal number of treatment sessions for most patients with chronic unilateral peripheral vestibular disorder. Nevertheless, those patients with more reduced limits of stability, and consequently greater likelihood of falling as a result of their diminished base of support, are candidates for rehabilitation protocols with a greater number of sessions.

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.

[Rehabilitation treatment of the balance: design of a general protocol with dynamic computerized posturography]. / Tratamiento rehabilitador de los trastornos del equilibrio. Diseño de un protocolo general con la posturografía dinámica computerizada.

The dynamic posturography (PD) is an amply diffused method for the study of balance. Its principal utility is the design of therapeutic strategies based on the vestibular rehabilitation. In determined patients and with the help of other elements of rehabilitation the PD favour the compensation of the degradation ofthe secondary balance to determinated pathologic entities that affect the vestibular peripheric or central system. Normally individualized strategies for each patient are employed and although this is the more correct, we consider necessary to propose global mesures that facilitate the rehabilitation program and the comparison of the results of different authors.

Adherence of older people with instability in vestibular rehabilitation programmes: prediction criteria.

OBJECTIVE: To determine whether demographic characteristics or balance examination findings can predict the adherence of older people with instability to a vestibular rehabilitation programme. METHODS: A prospective case-control study was conducted of 120 patients aged 65 years or more (mean age, 77.3 ± 6.33 years). Two groups were classified according to patients' adherence with the follow-up post-rehabilitation protocol. Analysed variables included: age, sex, body mass index, Timed Up and Go test findings, computerised dynamic posturography, Dizziness Handicap Inventory scores and Short Falls Efficacy Scale - International questionnaire results, number of falls, and type of vestibular rehabilitation. RESULTS: Two groups were established: adherents (99 individuals) and non-adherents (21 individuals). There were differences between the groups regarding: sex (female-to-male ratio of 4.8:1 in adherents and 1.63:1 in non-adherents), age (higher in non-adherents) and voluntary movement posturographic test results (non-adherents had poorer scores). CONCLUSION: The patients most likely to abandon a vestibular rehabilitation programme are very elderly males with low scores for centre of gravity balancing and limits of stability.

Efficacy of prophylactic elective neck dissection in the treatment of cancer of the larynx.

The effectiveness of elective neck dissection for treatment of cancers of the head and neck is controversial. We report a restrospective study of 142 patients treated at our hospital between 1974 and 1994 for squamous cell carcinomas of the supraglottic larynx. At the time of surgery, none of the patients had palpable cervical adenopathy. All patients underwent tumour resection, while 55 additionally underwent functional elective neck dissection. Elective neck dissection had no significant effects on either the risk of subsequent development of ipsilateral cervical adenopathy or on survival. In view of these results, we do not consider elective neck dissection to be beneficial as a routine strategy for management of carcinomas affecting the supraglottic larynx.

Benign paroxysmal vertigo: a comparative prospective study of the efficacy of Brandt and Daroff exercises, Semont and Epley maneuver.

We performed a prospective study to evaluate the efficacy of three physical treatments for benign paroxysmal positional vertigo: Brandt & Daroff habituation exercises, the Semont manoevre (intended as a statoconia-detachment maneuver), and the Epley maneuver (intended as a statoconia-repositioning maneuver). A total of 106 BPPV patients were randomly assigned to one of the three treatment groups, and responses were evaluated one week, one month and three months after the initial treatment. At the one-week follow-up, similar cure rates were obtained with the Semont and Epley maneuver (74% and 71% respectively), both cure rates being significantly higher than that obtained with Brandt & Daroff exercises (24%). By the three-month follow-up, the cure rate obtained with the Epley maneuver was higher (93%) than that obtained with the Semont maneuver (77%), though both remained higher than that obtained with the Brandt & Daroff maneuver (62%). However, the proportion of initially responding patients showing subsequent relapse was lower among patients treated by the Semont maneuver than among patients treated by the Epley maneuver. In view of these findings, we propose a treatment algorithm for patients with BPPV.

Waldeyer's ring lymphomas: an epidemiological study of 55 cases.

Waldeyer's ring is a relatively common location for non-Hodgkin's lymphoma. Here, we report an epidemiological study of Waldeyer's ring lymphomas based on data for 55 cases treated over a 19-year period at three centers in northern Spain. In most respects our results confirm those of previous studies. The average delay between first consultation and diagnosis was 3.8 months, and was longer for nasopharyngeal lymphomas than for tonsillar lymphomas.

The relationship between survival and cell proliferation index in squamous cell carcinoma of larynx.

Cell proliferation index is one of the most important factors in assessment of growth and progression of tumours. At present, the most suitable method of determining cell proliferation is by means of immunohistochemical techniques which use the monoclonal anti-body MIB-1 which reacts against Ki-67, a protein released only in the proliferation phases of the cell cycle. In this study, 44 patients diagnosed with squamous cell carcinoma of the larynx were analysed retrospectively and different macroscopic and microscopic parameters were assessed, such as MIB-1 in relation to the current status of the patient. A statistically significant relationship was found between the cell proliferation index, the histological grade of differentiation and the clinical evolution of the illness.

[Wegener granulomatosis. 5 clinical case reports]. / Granulomatosis de Wegener. A propósito de cinco casos clínicos.

Wegener's granulomatosis has progressively acquired more significance from the otolaryngologist point of view. Its usual debut at ENT-territory, the occurrence of limited forms to the upper airway and the conviction that the nose is the best site for biopsies, makes the otolaryngologist the first line specialist for the actual diagnosis. We report the last 5 cases seen at our Department and furthermore review the nowadays knowledges on the Syndrome.

[Epidemiologic and descriptive study covering one year of consultation in otoneurology department]. / Estudio epidemiológico descriptivo durante un año de una consulta de otoneurología.

The spread on Otoneurologic Units are increasing in number, because of the specific pathologic subjects it deals. But there are scanty epidemiologic studies on patients concurrent to these Unities. We report the data from a descriptive statistic pertaining to the Otoneurological Unit of our Hospital, in the wholly 1996. During this period of time 914 patients were attended, middle-aged 49.55, and the relation men/women being 0.61. The majority housewives, living in rural districts, prevailing the married women patients. The two ways of sanitary access more employed in so cases were: the otologist of the Social Security or reporting to the Urgency-Units of Hospitals. And the more complaining trouble was imbalance. Diagnosis more repeated was labyrinthine pathology due to ischemia and secondary vestibular conditions because cervical muscles contractures. We consider the profile of our patient group enhances the special risk in order to endure otoneurological pathology. And also we point out the fact that the most diagnosis are not related specially to vestibular pathology, but to other clinical entities not directly linked to an Otoneurologic dispensary.

[Laryngeal tuberculosis: report of 10 cases]. / Tuberculosis laríngeas: presentación de 10 casos.

The aim of this paper is to present a retrospective study on laryngeal tuberculosis cases presented at our Department from 1982 to 1993. In addition to usual techniques for tuberculosis diagnosis (cultures, Mantoux test and chest X-rays), biopsies for histological sections were carried out. Epidemiological, clinical diagnosis and treatment aspects are presented; the higher male incidence and the common suspicion of laryngeal carcinoma are emphasized. When we compare our results with those of several reports, we confirm the increase in the number of cases diagnosed in the last three years of the study. We emphasize the importance of histopathological diagnosis to rule out a neoplasm.

[The usefulness of craniocorpography in the diagnosis of patients with dizziness and increasing muscle tension in the neck]. / La utilidad de la craneocorpografía en el diagnóstico de pacientes con alteraciones del equilibrio asociadas a contracturas de la musculatura cervical.

By the moment, craniocorpographic record of the Romberg test has been scarcely used in clinical practice. Since craniocorpography is a method for recording oscillations of the head and shoulders, it can show characteristic patterns in patients with vertigo caused by increased muscle tension in the neck. In order to confirm this hypothesis, a prospective comparative study was performed with 329 patients. They were included in three different groups: patients with cervical vertigo, patients with vestibular pathology and a healthy control group. Movements of the head (with static shoulders) are more usual in patients with cervical vertigo (67%) than in those with vestibular pathology (27%) and healthy subjects (31%). With regard to the kind of head oscillations, front-back flexions and oscillations in all directions were the most frequent (36% and 34%, respectively). Nevertheless, the only movements previously reported (cervical rotation or torsion) only were 3% of total head movements in our study. We concluded that static craniocorpography is an useful method in diagnosing vertigo secondary to increased muscle tension in the neck.

[Computerized analysis of craniography: new limits of the norm for static and dynamic forms]. / Análisis computerizado de la craneocorpografía: nuevos límites de normalidad para sus formas estática y dinámica.

Literature about normal parameters of Craniocorpography (CCG) is scant and poorly documented. Its results are variable according to the series. Our aim is to reach a criteria of normality for CCG in our reference population. We have prospectively made Romberg and Unterberger tests to 72 healthy volunteers (mean age 34.7 years old, SD 17.07, 55.6% men) using a computerized method of measurement and making its estimation by means of a statistical model widely accepted. All the studied variables observe the conditions of Gaussian distribution. The normal limits for lateral and antero-posterior oscillation were 9 centimeters, 12 centimeters for lateral sway and 59 degrees to the right and 46 degrees to the left for angular deviation. The computerized method of analysis has facilitated the detection of the limits of the light tracings, which together with the careful design of our study guarantees the validity of the results.

[Treatment of epidermoid carcinoma of the oral cavity and oropharynx: our result (1991-1995)]. / Tratamiento de los carcinomas epidermoides de cavidad oral y orofaringe: nuestros resultados (1991-1995).

In a study of 79 patients diagnosed as squamous cell carcinoma of the oropharynx and oral cavity, we compared the results obtained with two different types of initial treatment (surgery versus irradiation). Patients were grouped by tumor size: small tumors (T1 and T2) and bigger tumors (T3 and T4). Thirty-one patients had T1-T2 tumors:17 treated surgically with an 83% cure rate, 14 treated by irradiation with a 71% cure rate. Forty-three patients had T3-T4 tumors: 38 treated by irradiation with an 32.5% cure rate and 5 treated by surgery, with a 25% cure rate.

[Asymptomatic acoustic neurinoma associated with hypophyseal macroadenoma]. / Neurinoma del acústico asintomático asociado con macroadenoma de hipófisis.

UNLABELLED: The widespread use of gadolinium-enhanced MRI (Gd-MRI) in our hospitals has supposed an increase in detection of asymptomatic acoustic neuromas (AN) as incidental finding. Concurrent primary intracranial tumors of different cell types are extremely uncommon. CLINICAL CASE: A 23 year-old woman complained of irregular menstrual cycles and galactorrhea for two years. A Gd-MRI scan showed a pituitary macroadenoma and an AN of 1.4 cm. with intracanalicular and cisternal extension. The patient did not have any otologic or neuro-otologic symptoms or signs. Audiograms revealed bilateral normal hearing. The results of acoustic reflex test and electronystagmographic caloric tests were normal. The AN underwent radiosurgery treatment. DISCUSSION: The literature about atypical AN is reviewed, giving a particular concern on asymptomatic cases. We only have found one case of association between AN and pituitary adenoma. The real prevalence of AN in general population is discussed.

[Epistaxis: prospective study on emergency care at the hospital level]. / Epistaxis: estudio prospectivo sobre la atención urgente a nivel hospitalario.

We prospectively studied 279 patients with epistaxis referred to ENT specialist from emergency room in our hospital in one year. Masculine sex (62%), medium or old ages (median 56 year), and associated diseases (HBP 22.9%, anticoagulants or antiplatelet drugs 11.1%), were the most common. Predominant local etiologic factors were trauma (12.9%) and inflammation (14%). Epistaxis had been essential in 36.9%. The most frequent location in all ages was the anterior one, especially located in the Kiesselbach's area, although the incidence of the posterior epistaxis increases in characteristic way from fourth decade, affecting more to men. Most of epistaxis (> 99%) were treated successfully by conservative approach and only two patients required surgical or interventional therapy. Patients between 30-59 year and the posterior epistaxis was the most refractory to the treatment. Hospitalized patients were older than ambulatory ones and had more associated diseases. Their average hospital stay was 9.2 days.

[Prognostic value of the stapedius muscle and electroneurography in facial paralysis a frigore, or Bell's palsy]. / Valor pronóstico del reflejo del músculo del estribo y la ENoG en la parálisis facial a frigore o de Bell.

A retrospective study was made of 170 patients diagnosed as Bell's palsy in a 7-year period (August 1990 to April 1997). We evaluated two prognostic factors: stapedial reflex and electroneurography findings. The condition was classified by nerve affection into three types: less than 10%, 10 to 30%, and over 30%. The evolution of our patients was: complete recovery in 86.4%, slight impairment in 2.9%, major impairment in 3.5%, and unknown in 7%. The stapedial reflex was present in 87 patients, absent then present in 26 patients, and absent in 5 patients. Electroneurography revealed less than 10% nerve involvement in 5 patients, 10-30% in 18 patients, and over 30% in 63 patients.

[Incidence of otosclerosis in a subpopulation of Galicia, Spain]. / Incidencia de otosclerosis en una subpoblación de Galicia.

We have made a prospective study of the patients who were analysed for the first time at the Outpatients Department in the Otolaryngology Section of the University Complex Hospital of Santiago de Compostela all along 1997. A whole of 1,050 patients have been included in this study. The most frequent diagnosis were neurosensorial hypoacusis (29.1%), chronic otitis media (27.8%) and in the third place, otosclerosis. This appeared in 83 cases, which represents a 8.7% of the fulfilled diagnosis. The incidence for our health area reached 19 new cases of otosclerosis per 100,000 inhabitants a year. When only the number of stapedectomies were included, it reached a 7.8%. The prevalence of the female population was clear, reaching a 77%. Diagnosed patients' age was from 30 to 50 years, although a considerable percentage (37%) were older. The incidence reached by our studies is higher to other values previously published. We think this responds to the fact that the health system covers all the population and to the importance a good audition is given nowadays.