Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient

BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys.

CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies.

TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements.

FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.

Associação entre doença arterial coronariana e as pregas lobular diagonal e anterotragal em homens

FUNDAMENTOS: Diversas alterações dermatológicas foram associadas à doença arterial coronariana, representando achados de fácil constatação que podem contribuir na estratificação não invasiva do risco cardíaco. OBJETIVOS: Avaliar comparativamente a prevalência de certos achados dermatológicos em pacientes com ou sem doença arterial coronariana. MÉTODOS: Estudo caso/controle envolvendo pacientes do sexo masculino submetidos à cineangiocoronariografia. Foram considerados aqueles casos com obstrução de mais de 50% em pelo menos uma coronária. Avaliou-se a presença da prega lobular diagonal, prega anterotragal, alopecia e presença de pêlos no tórax nos dois grupos. Os resultados foram ajustados para os fatores de risco: tabagismo, hipertensão, diabetes, idade, dislipidemia e índice de massa corporal. RESULTADOS: Analisaram-se 110 pacientes (80 casos e 30 controles). A prevalência da prega lobular diagonal nos casos (60,0%) foi maior do que no grupo controle (30,0%) (p<0,05). Alopecia androgenética e distribuição de pêlos no tórax não demonstraram associação positiva com coronariopatia neste estudo. O Odds Ratio (IC 95%), da prega lobular diagonal foi de 3,1 (1,2-8,3) e para prega anterotragal foi de 5,5 (1,9-16,3). A verificação simultânea da prega lobular diagonal e prega anterotragal representou valor preditivo positivo de 90%. CONCLUSÕES: Detectou-se associação positiva entre a presença da prega lobular diagonal bilateral e prega anterotragal bilateral com doença arterial coronariana, sendo que a presença simultânea das duas pregas apresenta alta preditividade para doença arterial coronariana.

O forame de Huschke e suas implicações clínicas

During temporal bone development and formation it is noted the presence of a foramen in the medial portion of the external auditory canal (foramen of Huschke). This foramen is normally present until the age of 4 or 5 years old, but in some people it persists throughout life. The persistence of this foramen and its clinical implications related to the temporomandibular joint, ear and nearby structures has been reported by many authors. Therefore, it is important that dentists, otorhinolaryngologists, speech pathologist and physiotherapists have a wide knowledge about the consequences of the presence and persistence of the foramen of Huschke.

Ressonância natural da orelha e sua relação com os volumes equivalentes das orelhas externa e média

INTRODUÇÃO: Modificações decorrentes da senilidade podem alterar as características do sistema de transmissão da orelha média bem como a ressonância da orelha externa, trazendo implicações para o processo de verificação do aparelho de amplificação sonora individual (AASI), quando utilizados targets e medidas do ganho de inserção (REIG). OBJETIVO: Comparar o ganho da orelha externa (REUG) e os volumes da orelha externa (VeqOE) e média (VeqOM) em idosos e adultos. MÉTODO: Estudo retrospectivo. Foram analisados dados de prontuário de 28 idosos (idade entre 61 e 102 anos, média limiares auditivos entre 38,75 a 85 dBNA) e 23 adultos (idades entre 20 e 59 anos, média limiares auditivos entre 31,25 a 116,25 dBNA) com perda auditiva neurossensorial bilateral e sem histórico de alteração de orelha média. Resultados da imitanciometria (VeqOE, VeqOM e pressão do pico de máxima complacência) e REUG (frequência e amplitude do pico primário) foram recuperados, totalizando 40 orelhas analisadas. Foram comparados tais dados entre adultos e idosos bem como entre homens e mulheres, por meio do teste "t" de Student. Foram verificadas correlações (Pearson) entre os dados da imitanciometria e da REUG. RESULTADOS: Não houve diferença estatisticamente significativa (p<0,01) dos dados da imitanciometria e das medidas do REUG entre adultos e idosos ou entre homens e mulheres. Houve correlação negativa, fraca, porém significativa entre o VeqOE e a frequência do pico primário da REUG. CONCLUSÃO: Os dados obtidos indicam que a verificação do AASI pode ser realizada com targets e medidas do REIG na população de idosos.

Enxerto composto auricular na reconstrução da asa nasal

O nariz ocupa o centro da face, o que torna pequenas assimetrias e imperfeições evidentes. Uma de suas subunidades é a asa nasal, região que exige não apenas resultados estéticos, mas também funcionais, em sua reconstrução, tornando-se um desafio ao cirurgião plástico. Neste artigo são descritos 3 casos em que foi utilizado enxerto composto auricular para reconstrução da asa nasal. Os enxertos apresentaram integração total, com resultados estéticos e funcionais adequados. Segundo revisão da literatura, não há diferença nos índices de complicação comparando-se os enxertos com os retalhos locais e, a longo prazo, a cartilagem auricular tende a manter-se no formato moldado, sofrendo raras distorções e mínima ou nenhuma absorção, diferentemente das cartilagens costais e dos enxertos ósseos. O enxerto composto auricular é uma técnica versátil e segura, com excelentes resultados na reconstrução da asa nasal e com baixa morbidade das áreas doadoras, cumprindo com eficiência seu objetivo reparador.

Isolation of Malassezia pachydermatis and M. sympodialis from the external ear canal of cats with and without otitis externa

The objective of this study was to determine the presence of Malassezia spp. in the external ear canal of cats with and without otitis. Forty-five animals were studied, 20 with and 25 without otitis externa (OE). Cerumen or secretion from external ear canal samples was cultured on modified Mycosel agar and sterile olive oil was added to the surface of the medium before specimen seeding. The isolates were analysed for macro- and micromorphology and identified by catalase tests and on the basis of growth on Tween 20, 40, 60 and 80. Malassezia spp. were isolated from 15 out of 20 (75%) animals with otitis and from 7 out of 25 (28%) cats without OE; the difference between the two groups was statistically significant (P <= 0.05). Malassezia pachydermatis and M. sympodialis were isolated from 60% (12/20) and 40% (8/20) of cats with otitis, respectively, with no significant difference in the frequency of isolation between the two species. In the microflora of the healthy ear canal M pachydermatis was significantly more common (6/25, 24%) than M sympodialis (1/25, 4%). The present investigation confirms that M sympodialis can also act as an actiological agent of feline OE, and if commercial veterinary laboratories do not use media with added lipids for the isolation of Malassezia spp., this might lead to false-negative results.

The external morphology of the inner ear in bats from the phosphorites of Quercy / Walter Segall --.

v.33:no.4(1974)

Resultate und ausser- gewöhnliche Komplikationen der Chirurgie der Gehörgangexostosen [Results and extraordinary complications of surgery for exostoses of the external auditory canal].

We present a retrospective study on 22 operations of exostosis of the external auditory canal in 20 patients. 8 patients were passionated by water sports. The most frequent indication for surgery (13 operations) was recurrent external otitis or ceruminal obstruction. In 7 cases the need for a wider access to the middle ear indicated surgery. Surgery was usually performed as an outpatient procedure, maximum hospitalization was 3 days. The mean healing period was 6 (3-10) weeks. Mean follow up was 43 (3-110) months. There were no severe intraoperative complications such as facial paresis, lesions of the ossicles or of the inner ear. As intraoperative complications we found 2 perforations of the tympanic membrane, 2 expositions of the capsule of the mandibular joint, one of which was followed by chronic pain. As postoperative complications we found an early soft tissue stenosis of the external auditory canal and one late soft tissue stenosis which recurred after revision surgery. No recurrence of exostosis was seen. We describe an up to now unknown complication: the appearance of bilateral petrositis caused by staphylococcus epidermidis after bilateral surgery in an otherwise healthy patient. This study confirms that severe complications are rare, minor ones however relatively common. And that also minor complications may have a troublesome follow. Therefore and because of the potential of severe complications indication for surgery must be made cautiously and risks of the operation must not be underestimated.

The effect of Nystatin on the inner ear : an experimental guinea pig study

Objectifs: Le Nystatin est un antibiotique efficace pour le traitement d’otomycose. Bien que sa sécurité au niveau de l’oreille externe soit bien établie, son utilisation n’est pas recommandée lorsqu’il y a une perforation tympanique. L’objectif de cette étude est d’évaluer le potentiel ototoxique du Nystatin lorsque celui-ci est appliqué directement au niveau de l’oreille moyenne. Méthodes: Nous avons fait une étude expérimentale avec 18 cochons d’Indes de souche Hartley que nous avons divisés en deux groupes. En exposant l’oreille moyenne de chaque animal au Nystatin (groupe I) ou à la néomycine (groupe II) et chaque oreille controlatérale à une solution physiologique (NaCl), la fonction auditive a été évaluée avec un test de potentiels évoqués auditif du tronc cérébral avant et après les injections. Une étude par microscopie électronique a permis une comparaison histologique de l’état des cellules ciliées cochléaires entre les 2 groupes. Résultats: Les pertes auditives moyennes du groupe « Nystatin » étaient de 13.0 dB et comparables aux pertes moyennes observées dans les oreilles ayant été injectées avec du NaCl (4.0 dB dans le groupe I et 15.1 dB dans le groupe II). Le groupe de contrôle « néomycine » a subi une perte auditive moyenne de 39.3 dB, ce qui représente une différence cliniquement et statistiquement significative (p<0.001). L’étude histologique avec une microscopie à balayage électronique a démontré une conservation de l’architecture des cellules ciliées cochléaires dans les groupe Nystatin et NaCl. La néomycine a causé une destruction marquée de ces structures. Conclusions: Le Nystatin ne provoque pas d’atteinte auditive ni de destruction des cellules ciliées externes après injection directe dans l’oreille moyenne chez le cochon d’Inde.

Association between ear creases and peripheral arterial disease

INTRODUCTION: Peripheral arterial disease is a severe manifestation of atherosclerosis that can lead to critical ischemia of the lower limbs and is also associated with high cardiovascular risk. Diagonal lobular and anterior tragal ear creases have been associated with coronary artery disease, but they have not yet been investigated in patients with peripheral arterial disease.OBJECTIVES: To evaluate the prevalence of ear creases among patients with peripheral arterial disease of the lower limbs, compared with patients without documented atherosclerotic disease.METHODS: Cross-sectional study including 60 male patients with peripheral arterial disease of the lower limbs and 60 dermatologic outpatients matched for age and gender. The associations were adjusted for other risk factors by conditional logistic regression.RESULTS: The prevalence of diagonal and anterior tragal ear creases was higher among cases (73% vs. 25% and 80% vs. 43%, respectively) than controls; these associations remained significant even when adjusting for other known risk factors of atherosclerosis (odds ratio = 8.1 and 4.1, respectively).CONCLUSIONS: Ear creases are independently associated with peripheral arterial disease and may be an external marker for risk identification.

Causes of injuries resulting in hospitalisation in Australia : assessing coder agreement on external causes

Objective: To assess extent of coder agreement for external causes of injury using ICD-10-AM for injury-related hospitalisations in Australian public hospitals. Methods: A random sample of 4850 discharges from 2002 to 2004 was obtained from a stratified random sample of 50 hospitals across four states in Australia. On-site medical record reviews were conducted and external cause codes were assigned blinded to the original coded data. Code agreement levels were grouped into the following agreement categories: block level, 3-character level, 4-character level, 5th-character level, and complete code level. Results: At a broad block level, code agreement was found in over 90% of cases for most mechanisms (eg, transport, fall). Percentage disagreement was 26.0% at the 3-character level; agreement for the complete external cause code was 67.6%. For activity codes, the percentage of disagreement at the 3-character level was 7.3% and agreement for the complete activity code was 68.0%. For place of occurrence codes, the percentage of disagreement at the 4-character level was 22.0%; agreement for the complete place code was 75.4%. Conclusions: With 68% agreement for complete codes and 74% agreement for 3-character codes, as well as variability in agreement levels across different code blocks, place and activity codes, researchers need to be aware of the reliability of their specific data of interest when they wish to undertake trend analyses or case selection for specific causes of interest.