The diagnosis, clinical findings and treatment options for Parkinson's disease patients attending a tertiary referral voice clinic.

BACKGROUND: Parkinson's disease is a degenerative disorder of the central nervous system, mainly affecting motor functions including the voice. The aetiology of dysphonia changes throughout the course of disease progression. OBJECTIVES: This study aimed to determine the laryngeal changes seen in early-, mid- and late-stage Parkinson's disease. Thirteen patients with Parkinson's disease are presented, representing the largest series of voice patients with Parkinson's disease seen in a voice clinic in the literature. METHOD: Age, gender, severity of handicap caused by voice disorder and possible associated reflux symptoms were examined. RESULTS: Laryngeal function appeared to change gradually with progression of the disease, and may have been affected by the presence of pre-existing laryngeal pathology. CONCLUSION: Laryngeal function in Parkinson's disease appears to go through a series of changes that may be helped by both therapeutic and surgical interventions. These patients should be treated within the confines of a voice clinic multidisciplinary model.

Rib graft reconstruction versus osseointegrated prosthesis for microtia: a significant change in patient preference.

Until recently the options for reconstruction of the microtic ear were unsatisfactory and the ear was often left alone. With recent advances, both autologous rib reconstruction and osseointegration produce good quality results. It is our practice to offer all patients a choice of no surgery, autologous rib cartilage reconstruction or an osseointegrated prosthetic ear. This study reports on parental choice between the reconstructive options as assessed by questionnaire. Earlier patients who have had their surgery were compared with more recent patients who have chosen an option but are awaiting surgery. In the patients who have had surgery, seven (30%) chose a prosthetic ear and 16 (69.5%) chose rib cartilage reconstruction, compared to those patients that are awaiting surgery, four (11%) chose a prosthetic ear and 31 (88.6%) chose rib cartilage reconstruction. The results show a significant increase in the choice for rib cartilage reconstruction in those patients awaiting surgery. Although high quality autologous reconstruction is not widely available we feel it is important that parents are at least informed that it is an alternative to osseointegration and no surgery.

Utilidad del score de Boyer modificado para el diagnóstico diferencial de las meningitis bacterianas y víricas / Utility of boyer's score modified for the differential diagnosis of bacterial and viral meningitis

Antecedentes: Para facilitar el diagnóstico diferencial entre las meningitis bacterianas y víricas se han realizado numerosos estudios con el fin de establecer criterios para esta diferenciación. En 1980, Thomé y Boyer propusieron un score que ha tenido una amplia aceptación. Objetivos: Evaluar, en nuestros casos de meningitis, la utilidad del score de Boyer, así como su rendimiento tras la adición de otras variables de laboratorio. Métodos: Se han revisado de manera retrospectiva los casos diagnosticados de meningitis en el Hospital del Niño Jesús entre enero de 1993 y febrero de 2000. A todos se aplicó la escala de valoración de Boyer, y las siguientes variables de laboratorio: proteína C reactiva, porcentaje de polimorfonucleares en el líquido cefalorraquídeo (LCR) en función de la edad y el cociente de formas inmaduras/total de neutrófilos en sangre. Se valoró la sensibilidad y especificidad de la puntuación de Boyer y de las variables anteriores. Resultados: De los 476 casos encontrados, 402 fueron meningitis víricas y 74 meningitis bacterianas. Todas las meningitis bacterianas tuvieron una puntuación superior a 3 (indicación dudosa de tratamiento antibiótico), excepto 7 casos que tuvieron dicha puntuación. La sensibilidad y especificidad de la escala de valoración de Boyer fueron del 90 y 99%, respectivamente, al añadir de manera conjunta las variables de laboratorio estudiadas la sensibilidad fue 100% y la especificidad 98%. Conclusiones: La puntuación de Boyer es útil para el diagnóstico diferencial de las meningitis bacterianas y víricas, pero su rendimiento se incrementa de forma notable cuando se complementa con otras pruebas de laboratorio (AU)

[Utility of Boyer's score modified for the differential diagnosis of bacterial and viral meningitis]. / Utilidad del score de Boyer modificado para el diagnóstico diferencial de las meningitis bacterianas y víricas.

BACKGROUND: Many studies have been performed to establish criteria for the differential diagnosis between bacterial and viral meningitis. In 1980, Thome and Boyer proposed a score that has been widely used. OBJECTIVES: The aim of this study was to assess the utility of this score when applied to our patients with meningitis and to evaluate the diagnostic yield after adding other laboratory tests. METHODS: We retrospectively studied the children diagnosed with meningitis in the Hospital Niño Jesús between January 1993 and February 2000. In all patients, Boyer's score and the following laboratory variables were applied: reactive C protein levels, percentage of neutrophils in the cerebrospinal fluid depending on age, and the ratio of immature cells/total neutrophils in the blood. We calculated the sensitivity and specificity of Boyer's score and the laboratory variables. RESULTS: Of the 476 children with meningitis, 402 had viral meningitis and 74 had bacterial meningitis. All the children with bacterial meningitis except seven had a score higher than 3 (a doubtful indication for antibiotic treatment). The sensitivity and specificity of Boyer's score was 90 % and 99 % respectively. When laboratory variables were added, sensitivity was 100 % and specificity was 98 %. CONCLUSIONS: Boyer's score is a useful tool for the differential diagnosis of meningitis, but its diagnostic yield is considerably increased when the results of laboratory tests are added.

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Hemifacial microsomia (HFM) is a common birth defect involving first and second branchial arch derivatives. The phenotype is extremely variable. In addition to craniofacial anomalies there may be cardiac, vertebral and central nervous system defects. The majority of cases are sporadic, but there is substantial evidence for genetic involvement in this condition, including rare familial cases that exhibit autosomal dominant inheritance. As an approach towards identifying molecular pathways involved in ear and facial development, we have ascertained both familial and sporadic cases of HFM. A genome wide search for linkage in two families with features of HFM was performed to identify the disease loci. In one family data were highly suggestive of linkage to a region of approximately 10.7 cM on chromosome 14q32, with a maximum multipoint lod score of 3.00 between microsatellite markers D14S987 and D14S65. This locus harbours the Goosecoid gene, an excellent candidate for HFM based on mouse expression and phenotype data. Coding region mutations were sought in the familial cases and in 120 sporadic cases, and gross rearrangements of the gene were excluded by Southern blotting. Evidence for genetic heterogeneity is provided by the second family, in which linkage was excluded from this region.

[Toxic shock syndrome in children. Report of four cases]. / Síndrome del shock tóxico en niños. Presentación de 4 casos.

We report four children with toxic shock syndrome admitted in the pediatric intensive care unit of our hospital during the past year. All the children had the five criteria established by the Centers for Disease Control for the diagnosis of this syndrome. In all four there was a probable point of entry of the infection: maxillar sinusitis in one, pneumonia in two and surgical wound in the other. No bacteria that could have caused the infection were isolated in any of the children, which suggests a staphylococcal origin for this syndrome. Evolution was good in all of the children due to aggressive treatment that included inotropic support, volemic expansion and antibiotics. Two of the children, who suffered adult respiratory distress syndrome, required prolonged respiratory support.

[Uremic hemolytic syndrome. Analysis of 43 cases]. / Síndrome hemolítico urémico. Análisis de 43 casos.

OBJECTIVE: The purpose of this study was to describe the epidemiological, clinical and evolution features of hemolytic uremic syndrome (HUS). PATIENTS AND METHODS: A retrospective study of 43 cases of HUS during the last 14 years (1984-1998) was performed. RESULTS: The mean age of the patients was 3.2 years, the incidence during the summer season was the highest and 39 cases (90%) previously had acute gastroenteritis. All children had acute renal failure, 32 of them (74%) required peritoneal dialysis. Anuria was found in 22 case (51%) and the mean duration was 10.3 days. The most frequent complications were: Hypertension in 21 cases (48%), peritonitis in 9 cases (20%), seizures in 8 patients (16%) and 3 deaths (6%). The mean hospital stay was 14.5 days. After one year of ambulatory control, 76% of the children were completely recovered and only two cases (6%) had chronic renal failure. Seizures associated significantly with a bad prognosis (p < 0.05). CONCLUSIONS: HUS has a very important morbimortality. Seizures in the acute phase were associated with a bad prognosis. Anuria for more than 7 days and oliguria for more than 15 days were also predictors of a worse prognosis, but this was not significant.

External acoustic meatus cholesteatoma.

Cholesteatoma is a condition usually affecting the middle ear and mastoid, but in certain cases it can be found in the external ear canal. It usually affects elderly people and presents with chronic otorrhoea and dull otalgia. The disease can progress to extensive mastoid destruction. Small lesions can be treated with regular microscopic debridement in out-patients while larger lesions require surgery to eradicate the cholesteatoma sac. We present 2 cases of external ear cholesteatoma to add to the less than 50 cases reported to date.

Hearing aids and glue ear.

This study was designed to determine the acceptance and effectiveness of a hearing aid in the management of children with persistent hearing loss due to glue ear (otitis media with effusion [OME]). Forty-eight children with OME, in whom the main symptom was deafness, were treated with a hearing aid instead of surgery and reviewed at 3-monthly intervals over 6-12 months. Seventy-one per cent reported unequivocal satisfaction with the aid. Sixty-five per cent used the aid continuously throughout the day whilst 35% used it only at specific times of need. Ninety-eight per cent noticed a definite improvement in their hearing whilst using the aid and this was confirmed audiometrically in 100%. Disability was considered in terms of speech development and educational achievement. In 66% there had been a subjective decline in these parameters prior to aid prescription. In all but one child significant improvement was made sufficient to alleviate parental and teachers' concern. No children reported significant symptoms due to OME other than deafness and there were no complications of hearing aid usage. At follow-up, however, 13% of children continued to use a hearing aid in an ear in which the OME had resolved. This study has shown that in this preselected group of children with persistent OME and the predominant symptom of deafness, a hearing aid was an effective treatment for their deafness with high acceptance and compliance.