Familial malignant osteopetrosis in children: A case report

The clinical, radiological, pathological and laboratory findings of two brothers with autosomal recessive malignant osteopetrosis are presented. Our findings are similar to characteristics previously reported in the literature about patients with osteopetrosis. The 6-year-old male patient was pale and had petechiae on his arms and legs. He also had macrocephalia, splenomegaly, severe pancytopenia, genu valgus, hypocalcemia, amaurosis, cessation of physical development, generalized bone sclerosis and recurrent infections with a history of multiple incidences of acute otitis media. Generalized bone sclerosis and irregular sclerosis of the maxilla and mandible were seen on radiographs. The oral mucosa was apparently normal but permanent tooth eruption was delayed although there was early loss of deciduous teeth. The recommended treatment was blood transfusion and therapy with antibiotics when necessary; a bone marrow transplant was not possible due to lack of a compatible donor.

Secreção na orelha média em lactentes ocorrência, recorrência e aspectos relacionados

Objective: The present study aimed at evaluating the occurrence and recurrence of middle ear effusion and possible associated factors in the first two years of life of 190 newborns and infants, participants in the interdisciplinary prevention, detection, and intervention program at the Clínica de Educação para Saúde of Universidade do Sagrado Coração. Methods: Newborns and infants were monthly submitted to anamneses, otoscopy, behavioral hearing assessment using sound instruments and pure tones (pediatric audiometry) and tympanometry. Results: The results revealed that 68.4% of infants presented one or more episodes of middle ear effusion during their two first years, with more recurrence among males. Peak occurrence was between four and 12 months of age and, the earlier the first episode, the higher the probability of recurrence. Greatest incidence was during May and August. It was found that, of the variables investigated, the period of exclusive breastfeeding actuated as a protector factor. With respect of risk factors, it was observed that passive smoking, gastro-esophageal reflux and respiratory allergy were related with the recurrences of effusion. Conclusion: Findings revealed the importance of periodic auditory follow-up for infants during their first two years of life, considered to be the critical period of auditory system maturation, during which sensory deprivation can be responsible for damage to the development of speech, language and other auditory abilities. © 2007 Sociedad Chilena de Pediatría.

Perfil de usuários de AASI com fissura labiopalatina

Cleft palates cause alterations in palate and lip structures, and it may also cause hearing loss because of recurrent otitis media. The appropriate treatment is controversial. It may include the prescription of antibiotics and insertion of a ventilation tube, or even otorhinolaryngological and audiological assistance, and hearing rehabilitation, with the use of an individual sound amplifier aid (ISAA). Aim: To characterize the profile of individuals with cleft palate and hearing loss, users of ISAA are assisted by the center of otorhinolaryngology and speech therapy of a hospital specialized in craniofacial anomalies and hearing impairment. Retrospective Study. Material and Methods: Retrospective analysis of 131 charts of patients with corrected cleft palate and hearing loss, fitted with ISAA by the center abovementioned. Results: The sample (n=131) was characterized by a prevalence of females (53%), unilateral incisive transforaminal cleft (27%), presence of associated anomalies (51%), history of alterations of the middle ear (56%) and surgery intervention (56%). Conclusion: The general profile of the individuals with cleft palate and hearing loss, fitted with ISAA, was characterized by the predominance of cleft lip and palate, positive history of middle ear alterations, surgery intervention and bilateral sensorineural hearing loss. © Revista Brasileira de Otorrinolaringologia. All Rights reserved.

Avaliação nutricional pré-cirúrgica de crianças com lesão labial e/ou palatal

Pós-graduação em Pediatria - FMB

Potencial evocado auditivo para diagnóstico de surdez em gato com síndrome vestibular periférica

The brainstem auditory evoked potential is an electrodiagnostic test that allows a functional assessment of the auditory pathways from the middle ear to the brainstem. This test, in veterinary medicine, is not commonly used in Brazil. This paper reports the use of auditory evoked potential for deafness detection in a cat with unilateral peripheral vestibular syndrome secondary to otitis media.

Xilitol: um edulcorante diversificado e benéfico para a saúde humana

This work aims to present through a literature review, the main features and employability of the natural sweetener xylitol. This sweetener has low calorie, can be used by people with diabetes and is an excellent substitute for sucrose and other sweeteners. Xylitol can be separated from many fruits and vegetables through the reduction of xylose, which can occur by chemical or biotechnological synthesis. In addition to their use in the food industry, xylitol also has great value beneficial to human health by acting as anticariogenic, preventing and treating diseases such as acute otitis media and hemolytic anemia, as well as being growth inhibitor of various bacteria

Morphological aspects of tympanic bulla after ventral osteotomy in cats

To evaluate tympanic bulla healing after experimental ventral osteotomy in cats. Twenty adult cats were submitted to unilateral ventral bulla osteotomy and divided into two groups: cats of A1 group (n=10) were euthanized at 8 weeks and cats of A2 group (n=10), at 16 weeks postoperative. Signs of Horner's syndrome or damage to the inner ear were not found. Open-mouth radiographs taken in the immediate postoperative showed interruption in the contour of the larger compartment of the operated bulla. The result of Mcnemar'test was significant in A2 group (*p=0.0156). Macroscopic exams revealed that the operated bullae were similar to the normal ones, with preservation of the tympanic cavity. Connective tissue at the osteotomy site of the larger compartment was significantly found in the operated bullae in both groups (McNemar test: A1 p=0.0020*; A2 p=0.0078*). Histomorphometric analyses showed that the connective tissue length at the osteotomy site was shorter in A2 group than in the A1 group (Mann-Whitney test: p=0.0021*). Experimental ventral osteotomy did not alter significantly the tympanic bulla conformation and complete regeneration of tympanic bulla frequently did not occur before 16 weeks of postoperative period.

Autogenous bone grafts contamination after exposure to the oral cavity

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Comparison of screening methods for conductive hearing loss identification in children: low-cost proposal

Objective To evaluate the effectiveness of two screening methods (imitanciometry screening and questionnaire) to identify children at risk for conductive hearing loss, comparing this data with complete audiologic evaluation. Methods Of 507 children aged between three and six, 111 completed all procedures. The observational methods used were: imitanciometry screening, a questionnaire to identify risk factors for hearing loss and complete audiologic evaluation. Results obtained in the first two instruments were compared with results from complete audiologic evaluation (gold standard). From these comparisons, sensitivity and specificity, accuracy, positive and negative predictive values, and odds ratio were determined for the two screening methods and for the combination of both methods. Results The two methods applied in series (questionnaire and after imitanciometry screening) showed a greater odds ratio and better correlation between sensitivity and proportion of false-positives (ROC curve). Conclusion Combining the two tests in series improved screening accuracy. This combination was the best tool for identifying children at risk for conductive hearing loss.

Cost-effectiveness of introducing the 10-valent pneumococcal conjugate vaccine into the universal immunisation of infants in Brazil

Background Cost-effectiveness studies have been increasingly part of decision processes for incorporating new vaccines into the Brazilian National Immunisation Program. This study aimed to evaluate the cost-effectiveness of 10-valent pneumococcal conjugate vaccine (PCV10) in the universal childhood immunisation programme in Brazil. Methods A decision-tree analytical model based on the ProVac Initiative pneumococcus model was used, following 25 successive cohorts from birth until 5 years of age. Two strategies were compared: (1) status quo and (2) universal childhood immunisation programme with PCV10. Epidemiological and cost estimates for pneumococcal disease were based on National Health Information Systems and literature. A 'top-down' costing approach was employed. Costs are reported in 2004 Brazilian reals. Costs and benefits were discounted at 3%. Results 25 years after implementing the PCV10 immunisation programme, 10 226 deaths, 360 657 disability-adjusted life years (DALYs), 433 808 hospitalisations and 5 117 109 outpatient visits would be avoided. The cost of the immunisation programme would be R$10 674 478 765, and the expected savings on direct medical costs and family costs would be R$1 036 958 639 and R$209 919 404, respectively. This resulted in an incremental cost-effectiveness ratio of R$778 145/death avoided and R$22 066/DALY avoided from the society perspective. Conclusion The PCV10 universal infant immunisation programme is a cost-effective intervention (1-3 GDP per capita/DALY avoided). Owing to the uncertain burden of disease data, as well as unclear long-term vaccine effects, surveillance systems to monitor the long-term effects of this programme will be essential.

Alteration of distortion product otoacoustic emission input/output functions in subjects with a previous history of middle ear dysfunction

Background: The aim of this study was to investigate the effects of sub-clinical alterations on the amplitudes and slopes of the DPOAE input-output responses from subjects with previous history of middle ear dysfunction. Material/Methods: The study included 15 subjects with and 15 subjects without a history of otitis media in the last 10 years. All participants were assessed with acoustic immittance, pure-tone audiometry, and DPOAEs. For the later, I/O functions and I/O slopes were estimated at 1501, 2002, 3174, 4004 and 6384Hz. Results: No statistically significant differences were found between the 2 groups in terms of behavioral thresholds. The group with a previous history of middle ear dysfunction presented significantly lower mean DPOAE amplitudes at 2002, 3174 and 4004 Hz. In terms of DPOAE slopes, no statistically significant differences were observed at the tested frequencies, except at 3174 Hz. Conclusions: Middle ear pathologies can produce subclinical alterations that are undetectable with traditional pure-tone audiometry. The data from the present study show that reduced amplitude DPOAEs are associated with a previous history of middle ear complications. The corresponding DPOAE slopes were affected at only 1 tested frequency, suggesting that the cochlear non-linearity is preserved. Considering these results, it remains to be elucidated to what degree the DPOAE amplitude attenuation interferes with higher-order auditory tasks.

Virulence Genes and Antimicrobial Resistance Profiles of Pasteurella multocida Strains Isolated from Rabbits in Brazil

Pasteurella multocida is responsible for a wide range of diseases in domestic animals. In rabbits, the agent is related to nasal discharge, pneumonia, otitis media, pyometra, orchitis, abscess, and septicemia. One hundred and forty rabbits with respiratory diseases from four rabbitries in Sao Paulo State, Brazil were evaluated for the detection of P. multocida in their nasal cavities. A total of twenty-nine animals were positive to P. multocida isolation, and 46 strains were selected and characterized by means of biochemical tests and PCR. P. multocida strains were tested for capsular type, virulence genes, and resistance profile. A total of 45.6% (21/46) of isolates belonged to capsular type A, and 54.34% (25/46) of the isolates were untypeable. None of the strains harboured toxA or pfhA genes. The frequency of the other twenty genes tested was variable, and the data generated was used to build a dendrogram, showing the relatedness of strains, which were clustered according to origin. Resistance revealed to be more common against sulfonamides and cotrimoxazole, followed by erythromycin, penicillin, and amoxicillin.

Fatores causais e aplicação de provas complementares relacionadas à gravidade no transtorno fonológico

OBJETIVO: Verificar se o índice de gravidade, que mede a porcentagem de consoantes corretas, distingue as crianças com transtorno fonológico em relação às medidas de estimulabilidade e inconsistência de fala, bem como à presença dos históricos familial e de otite média. MÉTODOS: Participaram da pesquisa 15 sujeitos com idades entre 5 e 7 anos e 11meses, com diagnóstico de transtorno fonológico. O índice Porcentagem de Consoantes Corretas - Revisado (PCC-R) foi calculado para as provas de imitação de palavras e de nomeação de figuras, separadamente. A partir destas provas também foi computada a necessidade de aplicação da prova de estimulabilidade, de acordo com os critérios propostos em pesquisas anteriores. A prova de inconsistência de fala permitiu classificar os sujeitos como consistentes ou inconsistentes. Os dados foram submetidos à análise estatística. RESULTADOS: Na comparação entre os valores do PCC-R medido na prova de nomeação e de imitação foi observada diferença em relação à necessidade da aplicação da estimulabilidade. Em relação à prova de inconsistência de fala, não houve evidência desta relação. Não foi verificada diferença no PCC-R considerando-se a presença dos históricos de otite média e familial. CONCLUSÃO: O estudo indica que as crianças que precisaram da aplicação da prova de estimulabilidade apresentaram valores mais baixos de PCC-R. Entretanto, em relação à prova de inconsistência de fala e aos históricos de otite ou familial, o PCC-R não determinou diferenças entre as crianças.

Tipos de erros de fala em crianças com transtorno fonológico em função do histórico de otite média

OBJETIVO: Descrever os índices articulatórios quanto aos diferentes tipos de erros e verificar a existência de um tipo de erro preferencial em crianças com transtorno fonológico, em função da presença ou não de histórico de otite média. MÉTODOS: Participaram deste estudo prospectivo e transversal, 21 sujeitos com idade entre 5 anos e 2 meses e 7 anos e 9 meses com diagnóstico de transtorno fonológico. Os sujeitos foram agrupados de acordo com a presença do histórico otite média. O grupo experimental 1 (GE1) foi composto por 14 sujeitos com histórico de otite média e o grupo experimental 2 (GE2) por sete sujeitos que não apresentaram histórico de otite média. Foram calculadas a quantidade de erros de fala (distorções, omissões e substituições) e os índices articulatórios. Os dados foram submetidos à análise estatística. RESULTADOS: Os grupos GE1 e GE2 diferiram quanto ao desempenho nos índices na comparação entre as duas provas de fonologia aplicadas. Observou-se em todas as análises que os índices que avaliam as substituições indicaram o tipo de erro mais cometido pelas crianças com transtorno fonológico. CONCLUSÃO: Os índices foram efetivos na indicação da substituição como o erro mais ocorrente em crianças com TF. A maior ocorrência de erros de fala observada na nomeação de figuras em crianças com histórico de otite média indica que tais erros, possivelmente, estão associados à dificuldade na representação fonológica causada pela perda auditiva transitória que vivenciaram.

Study of two novel streptococcus pneumoniae operons: pilus islet 2 and the lantibiotic operon

Analysis of publicly available genomes of Streptococcus pneumoniae has led to the identification of a new genomic element resembling gram-positive pilus islets (PIs). Here, we demonstrate that this genomic region, herein referred to as PI-2 (containing the genes pitA, sipA, pitB, srtG1, and srtG2) codes for a novel functional pilus in pneumococcus. Therefore, there are two pilus islets identified so far in this pathogen (PI-1 and PI-2). Polymerization of the PI-2 pilus requires the backbone protein PitB as well as the sortase SrtG1 and the signal peptidase-like protein SipA. PI-2 is associated with serotypes 1, 2, 7F, 19A, and 19F, considered to be emerging in both industrialized and developing countries. Interestingly, strains belonging to clonal complex 271 (CC271) contain both PI-1 and PI-2, as revealed by genome analyses. In these strains both pili are surface exposed and independently assembled. Furthermore, in vitro experiments provide evidence that the pilus encoded by PI-2 of S. pneumoniae is involved in adherence. Thus, pneumococci encode at least two types of pili that may play a role in the initial host cell contact to the respiratory tract. In addition, the pilus proteins are potential antigens for inclusion in a new generation of pneumococcal vaccines. Adherence by pili could represent important factor in bacterial community formation, since it has been demonstrated that bacterial community formation plays an important role in pneumococcal otitis media. In vitro quantification of bacterial community formation by S. pneumoniae was performed in order to investigate the possible role of pneumococcal pili to form communities. By using different growth media we were not able to see clear association between pili and community formation. But our findings revealed that strains belonging to MLST clonal complex CC15 efficiently form bacterial communities in vitro in a glucose dependent manner. We compared the genome of forty-four pneumococcal isolates discovering four open reading frames specifically associated with CC15. These four genes are annotated as members of an operon responsible for the biosynthesis of a putative lanctibiotic peptide, described to be involved in bacterial community formation. Our experiments show that the lanctibiotic operon deletion affects glucose mediated community formation in CC 15 strain INV200. Moreover, since glucose consumption during bacterial growth produce an acidic environment, we tested bacterial community formation at different pH and we showed that the lanctibiotic operon deletion affected pH mediated community formation in CC 15 strain INV200. In conclusion, these data demonstrate that the putative lanctibiotic operon is associated with pneumococcal CC 15 strains in vitro bacterial community formation.