Mandibular Dysmorphology and Clinical Presentation in Treacher Collins Syndrome.

INTRODUCTION: Treacher Collins syndrome is a rare congenital disease characterized by the multiple craniofacial malformations. Although the deformities affecting patients with Treacher Collins syndrome have been well characterized, the effects of these malformations to clinical severity of the syndrome are not well understood. OBJECTIVE: To determine the association of specific Treacher Collins mandibular malformations with clinical severity. DESIGN: A retrospective radiographic observational study. SETTING: Study conducted at a single institution, a quaternary craniofacial care center. PATIENTS: 54 patients with Treacher Collins syndrome. INTERVENTIONS: Computed tomography (CT), clinical photographs and medical history were included in this analysis. Mandibles were isolated from CT data and reconstructed in three dimensions using Mimics software. Cephalometric measurements were performed on CT data. Clinical severity was determined by Teber and Vincent scores. Association of craniofacial dysmorphology to clinical severity was determined by Spearman rank coefficient. MAIN OUTCOME MEASURES: The main results obtained were the measurements of the mandibles and the quantification of the malformations of the evaluated patients. RESULTS: Among the most frequent findings in the sample are hypoplasia of the zygomatic complex, descending palpebral cleft and mandibular hypoplasia. Patients with a lower ramus/corpus ratio had a higher (more severe) Teber and Vincent classification. CONCLUSION: Patients with the most compromised mandible are also the patients with the highest number of malformations, thus, the most severe patients.

[Epidemiology, treatment and mortality in infection by carbapenemase-producing Enterobacteriaceae: retrospective study]. / Epidemiología, tratamiento y mortalidad en pacientes infectados por enterobacterias productoras de carbapenemasas: estudio retrospectivo.

BACKGROUND: Carbapenemase-producing Enterobacteriaceae (CPE) has become a significant problem in terms of public health and clinical outcome. OBJECTIVE: To assess the epidemiology, treatment and mortality in patients with infection due to CPE. MATERIAL AND METHODS: A retrospective analysis of 163 patients with CPE infection was carried out in a university hospital from July 2013 to October 2015. RESULTS: A total of 163 patients were included over the study period. Klebsiella pneumoniae was isolated in 95.1% of cases, and most of carbapenemases belonged to the OXA-48 group (93.0%). Acquisition was nosocomial in 124 cases (77.0%), healthcare-associated in 30 (18.6%), and 7 cases (4.3%) were community-acquired. The most frequent infections identified in this study were urinary tract (48.4%) and respiratory (19.5%) infections. Approximately half of the patients received antibiotic monotherapy. The 30-day mortality rate was 23.3%. Multivariate analysis revealed that the presence of septic shock at diagnosis (OR 4.2; IC 95% 1.5-11) was independently associated with an increase in death during the first month, unable to identify association with inappropriate antibiotic treatment. DISCUSSION: Further studies are needed to clarify whether antibiotic treatment of EPC infections should be combined or if monotherapy might be sufficient in mild infections.

Epidemiología, tratamiento y mortalidad en pacientes infectados por enterobacterias productoras de carbapenemasas: estudio retrospectivo / Epidemiology, treatment and mortality in infection by carbapenemase-producing Enterobacteriaceae: retrospective study

Resumen Introducción: Las enterobacterias productoras de carbapenemasas (EPC) suponen un reto para la salud pública y la práctica clínica. Objetivo: Analizar la epidemiología, el tratamiento y la mortalidad en pacientes infectados por EPC. Material y Métodos: Análisis retrospectivo de 163 pacientes infectados por EPC en un hospital universitario desde julio de 2013 a octubre de 2015. Resultados: Klebsiella pneumoniae fue aislada en 95,1% de los casos, y la mayoría de las carbapenemasas pertenecían al grupo OXA-48 (93%). La adquisición fue nosocomial en 124 casos (77%), asociada a cuidados sanitarios en 30 (18,6%), y 7 (4,3%) fueron de adquisición comunitaria. Las infecciones más frecuentes fueron las del tracto urinario (48,4%) y las respiratorias (19,5%). Aproximadamente, la mitad de los pacientes recibieron monoterapia antimicrobiana. La tasa de mortalidad a los 30 días fue de 23,3%. El análisis multivariante identificó que la presencia de shock séptico al diagnóstico (OR 4,2; IC 95% 1,5-11) estaba asociada de manera independiente con mayor mortalidad en el primer mes, sin lograr identificar asociación con el tratamiento antimicrobiano inapropiado. Discusión: Son necesarios más estudios para aclarar si el tratamiento antimicrobiano de las infecciones por EPC debe ser combinado o si podría ser suficiente la monoterapia en infecciones leves.

Abstract Background: Carbapenemase-producing Enterobacteriaceae (CPE) has become a significant problem in terms of public health and clinical outcome. Objective: To assess the epidemiology, treatment and mortality in patients with infection due to CPE. Material and Methods: A retrospective analysis of 163 patients with CPE infection was carried out in a university hospital from July 2013 to October 2015. Results: A total of 163 patients were included over the study period. Klebsiella pneumoniae was isolated in 95.1% of cases, and most of carbapenemases belonged to the OXA-48 group (93.0%). Acquisition was nosocomial in 124 cases (77.0%), healthcare-associated in 30 (18.6%), and 7 cases (4.3%) were community-acquired. The most frequent infections identified in this study were urinary tract (48.4%) and respiratory (19.5%) infections. Approximately half of the patients received antibiotic monotherapy. The 30-day mortality rate was 23.3%. Multivariate analysis revealed that the presence of septic shock at diagnosis (OR 4.2; IC 95% 1.5-11) was independently associated with an increase in death during the first month, unable to identify association with inappropriate antibiotic treatment. Discussion: Further studies are needed to clarify whether antibiotic treatment of EPC infections should be combined or if monotherapy might be sufficient in mild infections.

Incidence of venous thromboembolism in patients with colorectal cancer according to oncogenic status.

BACKGROUND: There are conflicting data regarding the role of KRAS mutation on the risk of venous thromboembolism (VTE) in colorectal cancer (CRC) patients. Moreover, the role of other biomarkers such as NRAS or BRAF has not been studied. PURPOSE: To analyze the incidence of VTE in a cohort of patients with CRC based on KRAS, NRAS, and BRAF status. METHODS: We performed a retrospective review of patients with unresectable locally advanced and metastatic CRC (mCRC) and known KRAS/NRAS/BRAF status, attended in the Medical Oncology Department of the Hospital General Universitario Gregorio Marañón (Madrid, Spain). The primary outcome was VTE defined as any venous thromboembolic event that occurred either 6 months before or at any time after the diagnosis of CRC. The biomarker status (KRAS, NRAS, and BRAF) and other predictors of thrombosis were collected. RESULTS: One hundred and ninety-four patients were identified and included in the analysis. Forty-one patients (21.1%) experienced VTE. The incidence was 19.1% in RAS-mutated patients, 28.6% in BRAF-mutated patients and 21% in triple wild-type patients (p = NS). In multivariate analysis, ECOG ≥ 2 was the only independent predictor of VTE (OR 8.73; CI 95% 1.32-57.82; p = 0.025). CONCLUSIONS: In our study, biomarkers have not been associated with an increased risk of VTE in CRC patients. A high incidence of VTE in BRAF-mutated patients has been observed and should be explored in further studies.

Development and diagnostic validation of an ELISA based on an antigenic mixture for the detection of bovine tuberculosis.

Programs for the eradication of bovine tuberculosis (bTB) focus on the tuberculin skin test (TST) and slaughter of reactor cattle. However, the disease remains an animal health concern in several countries and improving the efficiency of the TST has become a critical issue. The detection of Mycobacterium bovis antibodies in serum, within weeks after the TST, may be a rapid and inexpensive way to improve bTB control. This study reports the validation of an enzyme-linked immunosorbent assay (ELISA) to detect bovine tuberculosis as an ancillary test to TST in dairy farms in Argentina. The estimated validation parameters were within the established requirements of the World Organization for Animal Health (OIE). The test demonstrated high repeatability, with coefficients of variation <25%. High test reproducibility through interlaboratory testing was also found, with an estimated Pearson coefficient of 0.9648 (95% confidence intervals 0.9315-0.9820). The ELISA detected tuberculous cattle unidentified by the TST. Of 43 animals sent to slaughterhouses that were ELISA positive 15-17 days after a negative TST, 36 were confirmed as infected with M. bovis by histopathology and IS6110 PCR. According to ROC curve analysis of results of 145 cattle from M. bovis-free herds and the 36 M. bovis-infected cattle, at a corrected optical density cut-off point of 0.3853, specificity was 95.95% and the positive predictive value at this cut-off was 83.72%. The ELISA detection test validated in this study could be readily applied in dairy farms, to complement a prior TST and improve livestock health.

Association between dental hygiene, gingivitis and overweight or the risk of overweight in primary teeth of 4- and 5-year-old preschoolers in México.

OBJECTIVE: To determine the association between dental hygiene, gingivitis and overweight or the risk of overweight according to body mass index (BMI). METHODS: A cross-sectional study was performed with 1527 preschoolers. The children were divided into 4 groups: (i) absence of visible plaque and normal weight; (ii) absence of visible plaque and risk of overweight or overweight; (iii) presence of visible plaque and normal weight; and (iv) presence of visible plaque and risk of overweight or overweight. The clinical parameters evaluated were as follows: body mass index, degree of urban marginalization, dental caries, the simplified oral hygiene index and gingival status. Bivariate analysis and multivariate binary logistic regression models were used to identify associations between variables. RESULTS: The highest mean of gingivitis (0.28) was observed in the groups with visible plaque with normal weight and with overweight and risk of overweight. The presence of visible plaque and risk of overweight or overweight were positively associated (P = .0001) with the mean of gingivitis (OR = 8.28, 95% CI = 3.30-19.8). The absence of visible plaque and risk of overweight or overweight (P = .0001) were also positively associated with the presence of gingivitis (OR = 2.44, 95% CI = 0.68-8.06). This is after both models were adjusted by gender and degree of marginalization. CONCLUSIONS: The professionals should develop interdisciplinary approaches to (i) propose appropriate interventions to improve oral health in overweight preschoolers; and (ii) propose interventions to decrease the overweight with the possibility of also reducing its association with gingivitis.

MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.

A valuable approach to understand how individual and population genetic differences can predispose to disease is to assess the impact of genetic variants on cellular functions (e.g., gene expression) of cell and tissue types related to pathological states. To understand the genetic basis of nonsyndromic cleft lip with or without cleft palate (NSCL/P) susceptibility, a complex and highly prevalent congenital malformation, we searched for genetic variants with a regulatory role in a disease-related tissue, the lip muscle (orbicularis oris muscle [OOM]), of affected individuals. From 46 OOM samples, which are frequently discarded during routine corrective surgeries on patients with orofacial clefts, we derived mesenchymal stem cells and correlated the individual genetic variants with gene expression from these cultured cells. Through this strategy, we detected significant cis-eQTLs (i.e., DNA variants affecting gene expression) and selected a few candidates to conduct an association study in a large Brazilian cohort (624 patients and 668 controls). This resulted in the discovery of a novel susceptibility locus for NSCL/P, rs1063588, the best eQTL for the MRPL53 gene, where evidence for association was mostly driven by the Native American ancestry component of our Brazilian sample. MRPL53 (2p13.1) encodes a 39S protein subunit of mitochondrial ribosomes and interacts with MYC, a transcription factor required for normal facial morphogenesis. Our study illustrates not only the importance of sampling admixed populations but also the relevance of measuring the functional effects of genetic variants over gene expression to dissect the complexity of disease phenotypes.

Psychiatric comorbidities and suicidality among patients with neuromyelitis optica spectrum disorders in Argentina.

BACKGROUND: Neuromyelitis optica is a relapsing inflammatory, secondarily demyelinating astrocytopathy that most commonly affects the optic nerves and the spinal cord. OBJECTIVE: This study aimed to evaluate the psychopathological profile, presence of current depression, and suicidality in patients with neuromyelitis optica spectrum disorders (NMOSD) in an Argentinean cohort, and compare these parameters to those in patients with multiple sclerosis (MS) and in healthy controls (HCs). METHODS: Twenty patients with NMOSD, 18 with MS, and 20 healthy controls were included. The presence and grade of current depression were assessed using Beck's depression inventory (BDI), while psychiatric disease and suicidality were assessed using the Mini-International Neuropsychiatric Interview. RESULTS: The prevalence of psychiatric disease in the NMOSD group was 45%, significantly higher than in the MS group (16%, p = 0.06) and the HCs (5%, p = 0.008). Recurrent major depressive disorder was the most frequent psychiatric disease and was diagnosed in four (20%) patients in the NMOSD group and in two (11%) patients in the MS group. In the NMOSD group, two (10%) patients were diagnosed with past manic episodes, one (5%) with current dysthymic disorder, one (5%) with lifetime psychotic disorder, and one (5%) with bulimia nervosa. One patient (5.5%) in the MS group and one in the HC (5%) were diagnosed with current generalized anxiety disorder. Ten patients (50%) in the NMOSD group had current depressive symptoms versus five (28%) patients in the MS group (p = 0.16) and two (10%) in the HC group (p = 0.02). Six (30%) patients with NMOSD versus only one (5.5%) patient with MS had attempted suicide at least once, this difference was statistically significant (p = 0.05). Current suicide risk was high in patients with NMOSD (8, 40%) and moderate in patients with MS (4, 22%). CONCLUSIONS: Our study shows that the prevalence of psychiatric comorbidities in patients with NMOSD is significantly higher than in patients with MS and healthy controls. Given the high frequency of suicidality, assessment of pertinent psychiatric disorders in such patients to optimize monitoring and comprehensive treatment is required.

Integração lavoura-pecuária: estudo de caso arroz consorciado com Tifton 85

A tecnologia de integração lavoura-pecuária promove a recuperação de áreas degradadas pelo consorcio de cereais e forrageiras. Assim, avaliou-se o consórcio arroz-forrageira (Tifton 85) e seus monocultivos através o plantio do capim de forma simultânea e aos 15, 30 e 45 dias do plantio de arroz, em blocos casualizados com seis tratamentos e três repetições. Para altura, número de panículas, massa de 100 grãos, qualidade dos grãos e produtividade do arroz não se obteve diferença significativa. Contudo o tratamento contra brusone não foi eficaz. Não houve diferença para o tifton plantado em monocultura (497,3 e 156,8 g m

Farinha de ossos calcinada tratada com ácido clorídrico na produtividade do capim tifton

O Brasil é um dos maiores importadores de fosfato. Um dos fatores que colaboram para isso é a expansão agrícola e à baixa disponibilidade de fósforo no solo para as plantas. Em relação à alternativas, se avaliou a produção do capim tifton em função de diferentes fontes de P (Superfosfato simples; superfosfato triplo e farinha de ossos calcinada tratada com diferentes concentrações de HCl: 0%, 1%, 25%, 50%, 75% e 100% + enxofre - S), em delineamento inteiramente casualisado com três repetições e seis corte da avaliação da parte aérea. O aporte da farinha de ossos calcinada foi capaz de atender as necessidades de fosfato para o capim tifton, promovendo diferenças significativas entre o testemunha e se equiparando as fontes industriais. Os maiores níveis de matéria seca (MS) acumulada se deu com a aplicação de farinha de ossos + S (50,7g/vaso MS) em relação ao testemunha (8,8g/vaso MS), ficando os demais tratamentos com efeitos sobrepostos.

Farinha de ossos calcinada tratada com ácido clorídrico na produtividade do capim tifton

O Brasil é um dos maiores importadores de fosfato. Um dos fatores que colaboram para isso é a expansão agrícola e à baixa disponibilidade de fósforo no solo para as plantas. Em relação à alternativas, se avaliou a produção do capim tifton em função de diferentes fontes de P (Superfosfato simples; superfosfato triplo e farinha de ossos calcinada tratada com diferentes concentrações de HCl: 0%, 1%, 25%, 50%, 75% e 100% + enxofre - S), em delineamento inteiramente casualisado com três repetições e seis corte da avaliação da parte aérea. O aporte da farinha de ossos calcinada foi capaz de atender as necessidades de fosfato para o capim tifton, promovendo diferenças significativas entre o testemunha e se equiparando as fontes industriais. Os maiores níveis de matéria seca (MS) acumulada se deu com a aplicação de farinha de ossos + S (50,7g/vaso MS) em relação ao testemunha (8,8g/vaso MS), ficando os demais tratamentos com efeitos sobrepostos.(AU)

Integração lavoura-pecuária: estudo de caso arroz consorciado com Tifton 85

A tecnologia de integração lavoura-pecuária promove a recuperação de áreas degradadas pelo consorcio de cereais e forrageiras. Assim, avaliou-se o consórcio arroz-forrageira (Tifton 85) e seus monocultivos através o plantio do capim de forma simultânea e aos 15, 30 e 45 dias do plantio de arroz, em blocos casualizados com seis tratamentos e três repetições. Para altura, número de panículas, massa de 100 grãos, qualidade dos grãos e produtividade do arroz não se obteve diferença significativa. Contudo o tratamento contra brusone não foi eficaz. Não houve diferença para o tifton plantado em monocultura (497,3 e 156,8 g m <->2) ou simultaneamente com arroz (474,0 e 142,4 g m <->2) em relação à matéria fresca ou seca (respectivamente), apesar de ser atribuído efeito de sombreamento ao capim quando o plantio foi realizado a partir de 30 dias após o estabelecimento da cultura de arroz, reduzindo sua produtividade.(AU)

A Prospective and Controlled Clinical Trial on Stromal Vascular Fraction Enriched Fat Grafts in Secondary Breast Reconstruction.

Background. Fat grafting is a tremendous tool in secondary breast reconstruction. Stromal vascular fraction (SVF) enriched fat grafts have been presenting promising results regarding volume maintenance. Methods. We developed a method that produces a superior SVF enrichment rate (2 : 1) in the operating theatre. This prospective and controlled trial analyzed quantitatively and qualitatively fat grafts with (stem cells group, SG) and without (control group, CG) SVF enrichment in secondary breast reconstruction, through MRI-based volumetry, immunophenotyping, and cell counting. Also, patient satisfaction, aesthetic outcomes, and complications were analyzed. Results. Volumetric persistence in the SG was 78,9% and 51,4% in the CG; however it did not reach statistical significant difference. CD90 was the only marker highly expressed in the SG and showed a positive correlation with volumetric persistence (r = 0.651, p = 0.03). Fat necrosis occurred in 4 patients in the SG and in none in the CG. Patients in the CG showed a trend to be more satisfied. Considering aesthetics, both groups presented improvements. No locoregional recurrences were observed. Conclusions. Results are encouraging despite the fact that SVF enrichment in a higher supplementation rate did not improve, with statistical significance, fat graft volumetric persistence. Enriched fat grafts have proven to be safe in a 3-year follow-up.

Anti-biofilm activity of chitosan gels formulated with silver nanoparticles and their cytotoxic effect on human fibroblasts.

The development of multi-species biofilms in chronic wounds is a serious health problem that primarily generates strong resistance mechanisms to antimicrobial therapy. The use of silver nanoparticles (AgNPs) as a broad-spectrum antimicrobial agent has been studied previously. However, their cytotoxic effects limit its use within the medical area. The purpose of this study was to evaluate the anti-biofilm capacity of chitosan gel formulations loaded with AgNPs, using silver sulfadiazine (SSD) as a standard treatment, on strains of clinical isolates, as well as their cytotoxic effect on human primary fibroblasts. Multi-species biofilm of Staphylococcus aureus oxacillin resistant (MRSA) and Pseudomonas aeruginosa obtained from a patient with chronic wound infection were carried out using a standard Drip Flow Reactor (DFR) under conditions that mimic the flow of nutrients in the human skin. Anti-biofilm activity of chitosan gels and SSD showed a log-reduction of 6.0 for MRSA when chitosan gel with AgNPs at a concentration of 100 ppm was used, however it was necessary to increase the concentration of the chitosan gel with AgNPs to 1000 ppm to get a log-reduction of 3.3, while the SSD showed a total reduction of both bacteria in comparison with the negative control. The biocompatibility evaluation on primary fibroblasts showed better results when the chitosan gels with AgNPs were tested even in the high concentration, in contrast with SSD, which killed all the primary fibroblasts. In conclusion, chitosan gel formulations loaded with AgNPs effectively prevent the formation of biofilm and kill bacteria in established biofilm, which suggest that chitosan gels with AgNPs could be used for prevention and treatment of infections in chronic wounds. The statistic significance of the biocompatibility of chitosan gel formulations loaded with AgNPs represents an advance; however further research and development are necessary to translate this technology into therapeutic and preventive strategies.

Molecular identification and antibiotic resistant bacteria isolated from primary dentition infections.

BACKGROUND: Bacterial resistance to antibiotics is a health problem in many parts of the world. The aim of this study was to identify bacteria from dental infections and determine bacterial resistance to antibiotics used in dental care in the primary dentition. METHODS: This cross-sectional study comprised 60 children who presented for dental treatment for active dental infections in the primary dentition. Samples from dental infections were collected and bacteria were identified by polymerase chain reaction (PCR) assay. Bacterial resistance to antibiotics was determined by colony forming units on agar plates containing amoxicillin, clindamycin and amoxillicin-clavulanic acid (A-CA) tested at 8 µg/ml or 16 µg/ml. RESULTS: Clindamycin in both concentrations tested (8 µg/ml and 16 µg/ml) showed the highest bacterial resistance (85.9%), followed by amoxicillin (43.7%) and A-CA (12.0%). All comparisons among the three antibiotics used in the study exhibited statistical significance (p = <0.05) in both concentrations tested (8 µg/ml and 16 µg/ml), and under aerobic and anaerobic conditions. The most prevalent resistant species identified by PCR in primary dentition infections were: Streptococcus oralis and Prevotella intermedia (75.0%); Treponema denticola and Porphyromonas gingivalis (48.3%); Streptococcus mutans (45.0%); Campylobacter rectus; and Streptococcus salivarius (40%). CONCLUSIONS: This study demonstrated that A-CA exhibited the lowest bacterial resistance for clinical isolates in primary dentition infections.

Adherence inhibition of Streptococcus mutans on dental enamel surface using silver nanoparticles.

The aim of this ex vivo study was to evaluate the adherence capacity of Streptococcus mutans after being exposed to three different sizes of silver nanoparticles on healthy human dental enamel. Three different sizes of silver nanoparticles (9.3, 21.3 and 98 nm) were prepared, characterized and an adherence testing was performed to evaluate their anti-adherence activity on a reference strain of S. mutans on healthy dental enamel surfaces. Colony-Forming Unit count was made for adherence test and light microscopy, atomic force microscopy and scanning electron microscopy were used to compare qualitative characteristics of S. mutans. 9.3 nm and 21.3 nm groups did not show differences between them but statistical differences were found when 9.3 nm and 21.3 nm groups were compared with 98 nm and negative control groups (p<0.05). Microscopy analysis shows a better inhibition of S. mutans adherence in 9.3 nm and 21.3 nm groups than the 98 nm group when compared with control group. Silver nanoparticles showed an adherence inhibition on S. mutans and the anti-adherence capacity was better when silver nanoparticles were smaller.

Are adverse effects of antiepileptic drugs different in symptomatic partial and idiopathic generalized epilepsies? The Portuguese-Brazilian validation of the Liverpool Adverse Events Profile.

We report the results of administration of the Portuguese-Brazilian translation of the Liverpool Adverse Events Profile (LAEP) to 100 patients (mean age=34.5, SD=12.12; 56 females), 61 with symptomatic partial epilepsy (SPE) and 39 with idiopathic generalized epilepsy (IGE) (ILAE, 1989) who were on a stable antiepileptic drug (AED) regimen and being treated in a Brazilian tertiary epilepsy center. Carbamazepine was the most commonly used AED (43.0%), followed by valproic acid (32.0%). Two or more AEDs were used by 69.0% of patients. The mean LAEP score (19 questions) was 37.6 (SD=13.35). The most common adverse effects were sleepiness (35.0%), memory problems (35.0%), and difficulty in concentrating (25.0%). Higher LAEP scores were associated with polytherapy with three or more AEDs (P=0.005), female gender (P<0.001), older age (P<0.001), and uncontrolled seizures (P=0.045). The intraclass coefficient (test-retest reliability) for LAEP overall score was 0.848 (95% CI=0.782-0.895), with a range from 0.370 (unsteadiness) to 0.750 (memory problems). Cronbach's α coefficient (internal consistency) was 0.903. The LAEP was highly correlated with Quality of Life in Epilepsy-31 inventory (r=-0.804, P>0.001) and Hospital Anxiety and Depression Scale (Depression: r=0.637, P<0.001; Anxiety: r=0.621, P<0.001) dimensions. LAEP overall scores were similar in people with SPE and IGE and were not helpful in differentiating adverse effects in these two groups. Clinical variables that influenced global LAEP were seizure frequency (P=0.050) and generalized tonic-clonic seizures in the last month (P=0.031) in the IGE group, and polytherapy with three or more AEDs (P=0.003 and P=0.003) in both IGE and SPE groups.

Síndrome de Pai: características clínicas e relato de caso / Pai Syndrome: Clinical Characteristics and case report

A síndrome de Pai é uma desordem congênita rara primeiramente descrita em 1987. As principais características clínicas são a presença de fissura mediana do lábio superior, lipoma intracranial de corpo caloso e pólipos cutâneos, principalmente em asa nasal. Na literatura médica somente seis casos desta síndrome foram descritos. Apresenta-se o relato de mais um caso completo da síndrome, enfocando-se a reparação labial e nasal.

Pai syndrome is a rare congenital disorder first described in 1987. The main clinical features are median cleft of the upper lip, intra-cranial lipoma and cutaneous polyps. In literature only six cases of this syndrome have been described. We present the report of another complete case of syndorme, foccusing the lip and nose repair.

Microssomia craniofacial e perda auditiva: avaliação audiométrica em 15 casos / Craniofacial microsomia and hearing loss: audiometric assessment of 15 cases

Microssomia craniofacial é uma síndrome congênita que afeta as estruturas derivadas do primeiro e segundo arcos branquiais, acometendo mais freqüentemente a mandíbula e a orelha. A perda auditiva na microssomia craniofacial se deve às malformações das estruturas auriculares, no entanto não existem estudos mostrando correlação entre o grau da microssomia craniofacial e o grau de comprometimento auditivo. Foram selecionados aleatoriamente 15 exames audiométricos em pacientes portadores de microssomia craniofacial entre 2001 e 2002. Todos os exames foram realizados com o aparelho Midimate 602 e Audiotest 227. Foram avaliados 15 pacientes, 8 mulheres e 7 homens, com média de idade de 8,5 anos, sendo 1 caso bilateral. Quatorze pacientes apresentavam microtia, e destes, 11 não apresentavam conduto auditivo externo. O tipo de perda auditiva mais freqüente foi a condutiva, em 12 casos. A média do déficit auditivo foi de 63,76dB. A malformação dos componentes auditivos é frequente e o acompanhamento com exames audiométricos pode detectar precocemente déficits auditivos levando a uma melhor reabilitação. Com a realização de exames audiométricos na avaliação de pacientes portadores de microssomia craniofacial propicia-se melhor desenvolvimento psicossocial destes pacientes.

Craniofacial microsomia is a congenital syndrome affecting the structures derived from first and second branchial archs. Most commonly the ear and jaws are involved. Hearing loss in this syndrome is due to auricular structures malformation, however there is not proved correlation between the severity of malformation and hearing loss. Fifteen audiometry performed in 2001 and 2002 were randomly selected between patients with craniofacial microsomia. All tests were performed with Midimate 602 e Audiotest 227 device. Fifteen patients were evaluated, 8 women and 7 men, the mean age was 8,5 years and one case was bilateral. Fourteen patients had microtia and eleven external auditory canal agenesia. The most common hearing loss was conductive. Hearing deficit mean was 63,76 dB. Auditive components malformation is frequent is this syndrome and audiometry evaluation may improve rehabilitation in patients in which hearing loss in early detected. Audiometry should be employed in craniofacial microsomia initial evaluation leading to better psicosocial development.

Microssomia craniofacial: experiência de 105 casos em 7 anos / Hemifacial microsomy: experience with 105 cases during 7 years

A Microssomia Craniofacial é deformidade com grande variedade de apresentações clínicas. Tratamos 105 casos em 7 anos, entre 1996 a 2002. Os casos foram revisados enfocando as suas alterações anatômicas. A idade de início do tratamento foi entre 0 e 5 anos em 39, 6 a 10 anos em 27,6 e após 10 anos em 33,4. Em 44,8 o lado comprometido foi o direito, o esquerdo em 38 e bilateral em 17,2. O pavilhão auricular era normal em 10; microtia correspondeu a 81 das deformidades auriculares, anotia a 12,6, orelha constricta a 6,3, question ear a 4,2, duplicidade a 4,2 e ausência do lóbulo a 1. Em 65,7 dos pacientes o meato acústico estava ausente e em 2,8 havia atresia. De acordo com a classificação de Pruzanski, foram de 35,2 as alterações mandibulares de Grau I, 21,9 de Grau IIA, 16,1 de Grau IIB e 3,8 de Grau III. Em 22,8 a mandíbula apresentava-se normal. Paralisia facial foi encontrada em 11,4 e macrostomia em 22,8. Em 10 dos pacientes apresentavam alterações oftalmológicas, dentre elas, 3 casos dermóide epibulbar. Em 21,9 foram identificadas outras deformidades faciais, com 5 casos de hipoplasia de partes moles, 9 de fissuras lábiopalatais e 2 de atrofia do masséter.

Hemifacial Microsomia is a deformity with a great variety of clinical feature. We have been treating 105 cases in last 7 years. The revision is focusing over the anatomic disorders. The patients looked for treatment between 0 – 5 y.old in 39, 5 – 10 in 27,6 and after 10 years old in 33,4. In 44,8 of the patients the deformities were at right side and 38 in the left, and in 17,2 was bilateral. Normal ear was seen in 10. In patients with auricular deformities microtia was seen in 81, anotia 12,6, lop and cup ear in 6,3, question ear in 4,2, duplicity in 4,2 and absence of lobulus in 1. In 65,7 of the patients the meatus was absence and 2,8 with atresic meatus. According to classification of Pruzanski, 35,2 of mandibular deformities were grade I, 21,9 grade IIA, 16,1 grade IIB and 3,8 grade III. Mandible was normal in 22,8. Facial palsy was found in 11,4, and macrostomy in 22,8. Around 10 of our patients had ocular deformities, and 3 of them had epibulbar dermoids. Others facial malformation occurred in 21,9, included: soft tissue hipoplasia in 5 cases, cleft lip and/or palate in 9 cases, and masseter atrophy in 2 cases .