Amplificação por condução óssea em malformações congênitas: benefício e satisfação

Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO). Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To characterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle, conductive or mixed hearing loss, moderate or severe and HA VO users. Evaluation of the benefit test using sentence recognition in noise and measures of functional gain and satisfaction assessment questionnaire using international IQ - HA. RESULTS: 13 subjects were evaluated, 61% were male and 80% with moderate conductive hearing loss or severe. There was better performance in the evaluation proposal, provided with HA when compared to the condition without HA. CONCLUSION: HA VO showed advantages for the population studied and should be considered as an option for intervention. Satisfaction was confirmed by elevated scores obtained in IQ - HA.

Oral cleft prevention program (OCPP)

Background Oral clefts are one of the most common birth defects with significant medical, psychosocial, and economic ramifications. Oral clefts have a complex etiology with genetic and environmental risk factors. There are suggestive results for decreased risks of cleft occurrence and recurrence with folic acid supplements taken at preconception and during pregnancy with a stronger evidence for higher than lower doses in preventing recurrence. Yet previous studies have suffered from considerable design limitations particularly non-randomization into treatment. There is also well-documented effectiveness for folic acid in preventing neural tube defect occurrence at 0.4 mg and recurrence with 4 mg. Given the substantial burden of clefting on the individual and the family and the supportive data for the effectiveness of folic acid supplementation as well as its low cost, a randomized clinical trial of the effectiveness of high versus low dose folic acid for prevention of cleft recurrence is warranted. Methods/design This study will assess the effect of 4 mg and 0.4 mg doses of folic acid, taken on a daily basis during preconception and up to 3 months of pregnancy by women who are at risk of having a child with nonsyndromic cleft lip with/without palate (NSCL/P), on the recurrence of NSCL/P. The total sample will include about 6,000 women (that either have NSCL/P or that have at least one child with NSCL/P) randomly assigned to the 4 mg and the 0.4 mg folic acid study groups. The study will also compare the recurrence rates of NSCL/P in the total sample of subjects, as well as the two study groups (4mg, 0.4 mg) to that of a historical control group. The study has been approved by IRBs (ethics committees) of all involved sites. Results will be disseminated through publications and presentations at scientific meetings. Discussion The costs related to oral clefts are high, including long term psychological and socio-economic effects. This study provides an opportunity for huge savings in not only money but the overall quality of life. This may help establish more specific clinical guidelines for oral cleft prevention so that the intervention can be better tailored for at-risk women. ClinicalTrials.gov Identifier NCT00397917

Birth defects in newborns and stillborns: an example of the Brazilian reality

Abstract Background This study constitutes a clinical and genetic study of all newborn and stillborn infants with birth defects seen in a period of one year in a medical school hospital located in Brazil. The aims of this study were to estimate the incidence, causes and consequences of the defects. Methods For all infants we carried out physical assessment, photographic records, analysis of medical records and collection of additional information with the family, besides the karyotypic analysis or molecular tests in indicated cases. Result The incidence of birth defects was 2.8%. Among them, the etiology was identified in 73.6% (ci95%: 64.4-81.6%). Etiology involving the participation of genetic factors single or associated with environmental factors) was more frequent 94.5%, ci95%: 88.5-98.0%) than those caused exclusively by environmental factors (alcohol in and gestational diabetes mellitus). The conclusive or presumed diagnosis was possible in 85% of the cases. Among them, the isolated congenital heart disease (9.5%) and Down syndrome (9.5%) were the most common, followed by gastroschisis (8.4%), neural tube defects (7.4%) and clubfoot (5.3%). Maternal age, parental consanguinity, exposure to teratogenic agents and family susceptibility were some of the identified risk factors. The most common observed consequences were prolonged hospital stays and death. Conclusions The current incidence of birth defects among newborns and stillbirths of in our population is similar to those obtained by other studies performed in Brazil and in other underdeveloped countries. Birth defects are one of the major causes leading to lost years of potential life. The study of birth defects in underdeveloped countries should continue. The identification of incidence, risk factors and consequences are essential for planning preventive measures and effective treatments.

Performance of fixed-pressure valve with antisiphon device SPHERA® in hydrocephalus treatment and overdrainage prevention

Patients with hydrocephalus and risk factors for overdrainage may be submitted to ventricular shunt (VS) implant with antisiphon device. The objective of this study was to prospectively evaluate for two years the clinical and tomographic results of the implant of fixed-pressure valves with antisiphon device SPHERA® in 35 adult patients, with hydrocephalus and risk factors for overdrainage. Of these, 3 had congenital hydrocephalus in adult patients with very dilated ventricles (Evans index >50%), 3 had symptomatic overdrainage after previous VS implant (subdural hematoma, hygroma or slit ventricle syndrome), 1 had previous chronic subdural hematoma, 15 had normal pressure hydrocephalus with final lumbar pressure <5 cm H2O after tap test (40 mL), 6 had pseudotumor cerebri, and 7 had hydrocephalus due to other causes. Clinical improvement was observed and sustained in 94.3% of the patients during the two-year period with no computed tomography (CT) evidence of hypo or overdrainage, and no immediate early or late significant complications.

Avaliação do tratamento cirúrgico da cardiopatia congênita em pacientes com idade superior a 16 anos

FUNDAMENTO: O número crescente de crianças com cardiopatias congênitas em evolução demanda maior preparo dos profissionais e das instituições que as manuseiam. OBJETIVO: Descrever o perfil dos pacientes com idade superior a 16 anos com cardiopatia congênita operados e analisar os fatores de risco preditivos de mortalidade hospitalar. MÉTODOS: Mil, quinhentos e vinte pacientes (idade média 27 ± 13 anos) foram operados entre janeiro de 1986 e dezembro de 2010. Foram realizadas análise descritiva do perfil epidemiológico da população estudada e análise dos fatores de risco para mortalidade hospitalar, considerando escore de complexidade, ano em que a cirurgia foi realizada, procedimento realizado pelo cirurgião pediátrico ou não e presença de reoperação. RESULTADOS: Ocorreu um crescimento expressivo no número de casos a partir do ano 2000. A média do escore de complexidade foi 5,4 e os defeitos septais corresponderam a 45% dos casos. A mortalidade geral foi 7,7% e o maior número de procedimentos (973 ou 61,9%) com maior complexidade foi realizado por cirurgiões pediátricos. Complexidade (OR 1,5), reoperação (OR 2,17) e cirurgião pediátrico (OR 0,28) foram fatores de risco independentes que influenciaram a mortalidade. A análise multivariada mostrou que o ano em que a cirurgia foi realizada (OR 1,03), a complexidade (OR 1,44) e o cirurgião pediátrico (OR 0,28) influenciaram no resultado. CONCLUSÃO: Observa-se um número crescente de pacientes com idade superior a 16 anos e que, apesar do grande número de casos simples, os mais complexos foram encaminhados para os cirurgiões pediátricos, que apresentaram menor mortalidade, em especial nos anos mais recentes. (Arq Bras Cardiol. 2012; [online].ahead print, PP.0-0)

Adultos com cardiopatia congênita submetidos à primeira cirurgia: prevalência e resultados em um hospital terciário

INTRODUÇÃO: O tratamento cirúrgico da cardiopatia congênita em adultos apresentou importante crescimento nos últimos anos. Contudo, ainda assim, o número de pacientes que atingem a idade adulta sem tratamento cirúrgico adequado permanece elevado. OBJETIVO: Avaliar os resultados hospitalares e diagnósticos dos pacientes adultos com cardiopatia congênita submetidos à primeira operação. MÉTODOS: Estudo retrospectivo, que analisou prontuários de pacientes operados para correção de cardiopatia congênita com idade maior ou igual a 18 anos. O critério de exclusão foi cirurgia para reoperação. Foi analisado o período entre dezembro de 2007 e dezembro de 2010, com inclusão de 79 pacientes. RESULTADOS: Os defeitos do septo atrial foram os mais prevalentes (53,1%), seguidos de comunicação interventricular (15,2%), coarctação da aorta (6,3%) e canal atrioventricular parcial (6,3%). Treze (16,4%) pacientes apresentavam doença associada adquirida e 14 pacientes (17,7%), congênita. Trinta e três (41,8%) pacientes apresentavam hipertensão pulmonar. O tempo médio de internamento em UTI e hospitalar foi de 3,9 e 14,5 dias, respectivamente. Complicações ocorreram em 18 (22,8%) pacientes, sendo as infecciosas as mais comuns. A mortalidade hospitalar foi de dois (2,5%) pacientes. CONCLUSÃO: O tratamento da cardiopatia congênita em adultos como primeira cirurgia apresentou resultado bastante favorável. Contudo, em nossa série, houve maior tempo de internamento em UTI e hospitalar.

Coronoid process hyperplasia: an unusual cause of mandibular hypomobility

A large number of disorders affecting the masticatory system can cause restriction of mouth opening. The most common conditions related to this problem are those involving the temporomandibular joint (TMJ) and the masticatory muscles, when facial pain also is an usual finding. Congenital or developmental mandibular disorders are also possible causes for mouth opening limitation, although in a very small prevalence. Coronoid process hyperplasia (CPH) is an example of these cases, characterized by an excessive coronoid process growing, where mandibular movements become limited by the impaction of this structure on the posterior portion of the zygomatic bone. This condition is rare, painless, usually bilateral and progressive, affecting mainly men. Diagnosis of CPH is made based on clinical signs of mouth opening limitation together with imaging exams, especially panoramic radiography and computerized tomography (CT). Treatment is exclusively surgical. This paper presents a case of a male patient with bilateral coronoid process hyperplasia, initially diagnosed with bilateral disk displacement without reduction, and successfully treated with intraoral coronoidectomy. It is emphasized the importance of differential diagnosis for a correct diagnosis and, consequently, effective management strategy.

Midgut volvulus after laparoscopic appendectomy

The authors report a case of a 13-year old child who was submitted to a laparoscopic appendectomy and developed, during the postoperative period, an intestinal obstruction caused by small bowel volvulus in the absence of a congenital malrotation.

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family

Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in RET have been reported in up to 50% of the inherited forms of Hirschsprung disease and in 15-20% of sporadic cases of Hirschsprung disease. The prevalence of Hirschsprung disease in multiple endocrine neoplasia type 2 cases was recently determined to be 7.5% and the cooccurrence of Hirschsprung disease and multiple endocrine neoplasia type 2 has been reported in at least 22 families so far. It was initially thought that Hirschsprung disease could be due to disturbances in apoptosis or due to a tendency of the mutated RET receptor to be retained in the Golgi apparatus. Presently, there is strong evidence favoring the hypothesis that specific inactivating haplotypes play a key role in the fetal development of congenital megacolon/Hirschsprung disease. In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific RET haplotype was documented in patients with Hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma. Despite the limited number of cases, the present data favor the hypothesis that specific haplotypes not linked to RET germline mutations are the genetic causes of Hirschsprung disease.

Intervenção nutricional padronizada em pacientes hipoglicêmicos hospitalizados

A ingestão de carboidratos de rápida absorção (CRA) pode ser útil para o aumento sérico de glicose. Neste contexto, os principais objetivos foram avaliar a eficácia e a aplicabilidade da intervenção nutricional em situações hipoglicêmicas apresentadas por pacientes conscientes, com dieta via oral e internados em hospital geral. Setenta e seis pacientes foram elegíveis e a hipoglicemia foi definida como nível de glicemia capilar ³ 50 até £ 70mg/dL. A intervenção nutricional constituiu na oferta de 15 a 24 gramas de CRA. Houve a conferência da glicemia capilar após 15-20 minutos da intervenção. A taxa de efetividade da intervenção nutricional foi de 97,6%, durante o período de estudo. Conclui-se que a administração de CRA, um método não invasivo, foi aplicável em unidades de um hospital geral e foi potencialmente eficaz na restauração da glicemia capilar em pacientes hipoglicêmicos com dieta via oral e conscientes.

Tratamento percutâneo vs. cirúrgico da persistência do canal arterial em crianças e adolescentes

INTRODUÇÃO: Estudos comparando os métodos percutâneo e cirúrgico no tratamento da persistência do canal arterial (PCA) são raros na literatura. Nosso objetivo foi realizar análise comparativa entre os dois métodos de tratamento da PCA, enfatizando os aspectos de eficácia e morbidade. MÉTODOS: Estudo observacional com 2 coortes de crianças e adolescentes > 5 kg e < 14 anos, portadores de PCA, tratados durante um projeto de avaliação de incorporação de novas tecnologias ao Sistema Único de Saúde (SUS), realizado em um hospital cardiológico de excelência, em parceria com o Ministério da Saúde do Brasil. Foi feita análise prospectiva no grupo percutâneo entre 2009 e 2011 e retrospectiva no grupo cirúrgico entre 2006 e 2011. RESULTADOS: Foram incluídos 80 pacientes no grupo percutâneo (60% do sexo feminino) e 39 no grupo cirúrgico (51% do sexo feminino; P = 0,37). A mediana de idade e de peso dos grupos percutâneo e cirúrgico foi de 39,4 meses vs. 25,5 meses (P = 0,04) e de 14 kg vs. 11,1 kg (P = 0,052), respectivamente. No grupo percutâneo, 78 pacientes (92%) tinham PCA do tipo A e o diâmetro mínimo do canal à angiografia foi de 2,5 ± 1,2 mm. As próteses mais utilizadas foram Amplatzer®, molas de Gianturco e CeraTM. A técnica cirúrgica mais utilizada foi a clipagem. A taxa de sucesso dos procedimentos foi de 100% nos dois grupos. O grupo cirúrgico apresentou maiores taxas de complicação, incluindo quilotórax, infecções, necessidade de hemoderivados, hipertensão arterial sistêmica e uso de opioides, como também maior necessidade de terapia intensiva. A mediana do tempo de internação foi de 1,3 dia no grupo percutâneo e de 7,9 dias no grupo cirúrgico (P < 0,01). À alta hospitalar, as taxas de oclusão foram semelhantes nos dois grupos (91% no grupo percutâneo e 87% no grupo cirúrgico; P = 0,71). CONCLUSÕES: Em decorrência da menor morbidade, do menor tempo de internação e da igual eficácia, o tratamento percutâneo da PCA deve ser considerado a modalidade terapêutica de escolha para pacientes selecionados.

Role of soluble triggering receptor expressed on myeloid cells-1 for diagnosing ventilator-associated pneumonia after cardiac surgery: an observational study

Abstract Background The diagnosis of ventilator-associated pneumonia (VAP) is a challenge, particularly after cardiac surgery. The use of biological markers of infection has been suggested to improve the accuracy of VAP diagnosis. We aimed to evaluate the usefulness of soluble triggering receptor expressed on myeloid cells (sTREM)-1 in the diagnosis of VAP following cardiac surgery. Methods This was a prospective observational cohort study of children with congenital heart disease admitted to the pediatric intensive care unit (PICU) after surgery and who remained intubated and mechanically ventilated for at least 24 hours postoperatively. VAP was defined by the 2007 Centers for Disease Control and Prevention criteria. Blood, modified bronchoalveolar lavage (mBAL) fluid and exhaled ventilator condensate (EVC) were collected daily, starting immediately after surgery until the fifth postoperative day or until extubation for measurement of sTREM-1. Results Thirty patients were included, 16 with VAP. Demographic variables, Pediatric Risk of Mortality (PRISM) and Risk Adjustment for Congenital Heart Surgery (RACHS)-1 scores, duration of surgery and length of cardiopulmonary bypass were not significantly diferent in patients with and without VAP. However, time on mechanical ventilation and length of stay in the PICU and in the hospital were significantly longer in the VAP group. Serum and mBAL fluid sTREM-1 concentrations were similar in both groups. In the VAP group, 12 of 16 patients had sTREM-1 detected in EVC, whereas it was undetectable in all but two patients in the non-VAP group over the study period (p = 0.0013) (sensitivity 0.75, specificity 0.86, positive predictive value 0.86, negative predictive value 0.75, positive likelihood ratio (LR) 5.25, negative LR 0.29). Conclusion Measurement of sTREM-1 in EVC may be useful for the diagnosis of VAP after cardiac surgery.

Follow-up Study of Unknowingly Pregnant Women Vaccinated Against Rubella in Brazil, 2001–2002

Background. Brazil conducted mass immunization of women of childbearing age in 2001 and 2002. Surveillance was initiated for vaccination of women during pregnancy to monitor the effects of rubella vaccination on fetal outcomes. Methods. Women vaccinated while pregnant or prior to conception were reported to the surveillance system. Susceptibility to rubella infection was determined by anti-rubella immunoglobulin (Ig) M and IgG immunoassays. Susceptible women were observed through delivery. Live-born infants were tested for anti-rubella IgM antibody; IgM-seropositive newborns were tested for viral shedding and observed for 12 months for signs of congenital rubella syndrome. Incidence of congenital rubella infection was calculated using data from 7 states. Results. A total of 22 708 cases of rubella vaccination during pregnancy or prior to conception were reported nationwide, 20 536 (90%) of which were from 7 of 27 states in Brazil. Of these, 2332 women were susceptible to rubella infection at vaccination. Sixty-seven (4.1%) of 1647 newborns had rubella IgM antibody (incidence rate, 4.1 congenital infections per 100 susceptible women vaccinated during pregnancy [95% confidence interval, 3.2–5.1]). None of the infants infected with rubella vaccine virus was born with congenital rubella syndrome. Conclusions. As rubella elimination goals are adopted worldwide, evidence of rubella vaccine safety aids in planning and implementation of mass adult immunization.