Júlio César Loguercio Leite

Effects of relational music therapy on communication of children with autism: a randomized controlled study

The intent of this study (registration ACTRN12608000625370) was to investigate the effects of Relational Music Therapy (RMT) in verbal, nonverbal and social communication of children with autism spectrum disorders (ASDs). A randomized controlled trial (RCT) with 24 boys from the Programme for Invasive Developmental Disorders (Porto Alegre City, Brazil), was designed to compare individuals treated with music therapy (n = 12) and standard treatment (clinical routine activities including medical examinations and consultations, n = 12). The outcomes were assessed by two blind evaluators, before and after interventions, through the verbal, nonverbal and social communication scores of Brazilian version of the Childhood Autism Rating Scale (CARS-BR). The CARS-BR scores in T1 and T2 did not show a statistically significant difference in the three measured outcomes. However, the study found a positive statistically significant difference on subgroup analysis of nonverbal communication among patients with autistic disorder, p = 0.008 and standard mean difference of 2.22 (95% CI 1.90 to 2.53). The results observed in the investigation of the effects of relational music therapy on communication skills of ASD children are inconclusive. The next investigations need more rigorous designs leading to smaller effect size estimates and more accurate tools for the outcome assessment (including some specific instrument of music therapy). These modifications will increase the accuracy to observe the treatment effects in this population.

Avaliação de teratógenos potenciais na população brasileira

O fato de agentes ambientais, nomeadamente farmacos, infeccoes maternas, e agentes quimicos ou fisicos poderem causar danos ao embriao ou feto em desenvolvimento e um problema reconhecido principalmente a partir do seculo 20. Nos paises em desenvolvimento, existem caracteristicas especiais que podem tornar esse problema mais agudo. Essas caracteristicas incluem niveis educacionais e economicos baixos da populacao, alta incidencia de doencas infecciosas e carenciais, escassos recursos para saude e pesquisa, pratica frequente e sem controle de automedicacao, facilidade de obtencao de medicacoes que deveriam estar submetidas a prescricao medica e, finalmente, proibicao legal de interrupcao da gestacao. Alem disso, pode somar-se uma qualidade ambiental precaria ou mesmo condicoes de trabalho insalubres durante a gravidez. No presente trabalho apresentamos as principais metodologias para deteccao e monitorizacao de potenciais teratogenos, com enfase especial nos programas desenvolvidos no Brasil e America Latina.

Recognition of the phenotype of thalidomide embryopathy in countries endemic for leprosy: new cases and review of the main dysmorphological findings.

Thalidomide is the best-known teratogen worldwide. It was first marketed as a sedative in the late 1950s, but the birth of ∼10 000 children with birth defects resulted in the withdrawal of thalidomide from the market in 1962. Thalidomide embryopathy affects almost all organs but the main defects are concentrated in the limbs, eyes, ears, and heart. Shortly after the withdrawal of thalidomide from the market, its effectiveness in the treatment of erythema nodosum leprosum, an inflammatory condition resulting from leprosy, was reported and since the mid-1990s, the drug has been used widely in the treatment of cancers and autoimmune diseases, among other conditions. 40 000 new cases of leprosy are diagnosed every year in Brazil. Although there is a strict legislation for the prescription and use of thalidomide in Brazil, cases of thalidomide embryopathy have continued to be reported. Here, we present two new cases of thalidomide embryopathy identified in 2011 and review the major clinical findings in the literature that can aid the identification of the embryopathy.

Defeitos congênitos em uma região de mineração de carvão

OBJETIVO: Avaliar a relacao entre o impacto ambiental decorrente da extracao de carvao e sua repercussao na saude reprodutiva de uma populacao, residente em pequenas cidades do Sul do Brasil, pela observacao da frequencia de defeitos congenitos nos recem-nascidos. METODOS: Foram monitoradas as frequencias de oito defeitos congenitos em 10.391 nascidos vivos, ocorridos no periodo de janeiro de 1985 a dezembro de 1995 em um hospital localizado no municipio de Sao Jeronimo, RS. Destes, foram selecionados oito maiores defeitos congenitos, e a analise de suas prevalencias ao nascimento visou reduzir os possiveis erros-diagnosticos. As taxas de defeitos congenitos foram comparadas as de outros hospitais geograficamente proximos e as fornecidas pelo Estudo Colaborativo Latino-Americano de Malformacoes Congenitas (ECLAMC) para a America Latina. RESULTADOS/CONCLUSOES: As frequencias observadas nao diferiram das encontradas em hospitais regionais e no ECLAMC. O pequeno numero de criancas avaliadas mostra apenas algumas tendencias, concluindo serem necessarios outros estudos mais profundos.OBJECTIVEnTo assess the relationship between the environmental impact of coal mining and its effects in the reproductive health of populations living in small towns of Southern Brazil by studying the frequency of birth defects in newborns.nnnMETHODSnThe assessment of potential reproductive hazards in the population was based on an evaluation of hospital records of 10,391 newborns within a 10-year-period (from 1985 to 1995). Eight major birth defects were selected and their frequencies at birth was analyzed and compared to observed frequencies registered by the Latin American Study of Congenital Malformation (ECLAMC).nnnRESULTS/CONCLUSIONSnThe results show no increase in the frequencies of the birth defects studied, and rule out the existence of an increased teratogenic risk in this region. Its noteworthy that the small number of children evaluated allows identifying tendencies that can only be confirmed in larger population studies.

A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil

Filix TM, Leite JCL, Maluf SW, Coelho JC. A genetic diagnostic survey in a population of 202 mentally retarded institutionalized patients in the south of Brazil. Clin Genet 1998: 54: 219–223. 0 Munksgaard, 1998

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.

In some cases Neu‐Laxova syndrome (NLS) is linked to serine deficiency due to mutations in the phosphoglycerate dehydrogenase (PHGDH) gene. We describe the prenatal and postnatal findings in a fetus with one of the most severe NLS phenotypes described so far, caused by a homozygous nonsense mutation of PHGDH. Serial ultrasound (US) and pre‐ and postnatal magnetic resonance imaging (MRI) evaluations were performed. Prenatally, serial US evaluations suggested symmetric growth restriction, microcephaly, hypoplasia of the cerebellar vermis, micrognathia, hydrops, shortened limbs, arthrogryposis, and talipes equinovarus. The prenatal MRI confirmed these findings prompting a diagnosis of NLS. After birth, radiological imaging did not detect any gross bone abnormalities. DNA was extracted from fetal and parental peripheral blood, all coding exons of PHGDH were PCR‐amplified and subjected to Sanger sequencing. Sequencing of PHGDH identified a homozygous premature stop codon mutation (c.1297C>T; p.Gln433*) in fetal DNA, both parents (first‐cousins) being heterozygotes. Based on previous associations of mutations in this gene with a milder NLS phenotype, as well as cases of serine deficiency, these observations lend further support to a genotype‐phenotype correlation between the degree of PHGDH inactivation and disease severity.

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth and presented similar phenotypes. Sex-reversal was observed in one of three chromosomally male patients. Sequencing of SOX9 revealed new heterozygous mutations in seven individuals. Six patients had mutations that resulted in premature transcriptional termination, while one infant had a single-nucleotide substitution at the conserved splice-site acceptor of intron 1. No clear genotype-phenotype correlations were observed. This study highlights the diversity of SOX9 mutations leading to lethal CD, and expands the group of known genetic alterations associated with this skeletal dysplasia.

Seroprevalence of hepatitis A antibodies in a group of normal and Down Syndrome children in Porto Alegre, Southern Brazil

The high incidence of Hepatitis A and B in institutionalized patients with Down Syndrome (DS) is not fully understood. Under poor hygienic conditions, immunological alterations might predispose individuals to these infections. Sixty three DS children between 1 and 12 years old living at home with their families were examined for anti-HAV and compared to age-matched controls (64 healthy children). This cross-sectional study was carried out from May 1999 to April 2000 at the Hospital de Clínicas of Porto Alegre, southern Brazil. Groups were compared in terms of age, sex, skin color, and family income (> R

Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

500 and < R

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant

500/month) by the chi-square test, with Yates correction and for the prevalence of anti-HAV (Fishers exact test). In the DS group (n=63), the mean age was 4.4 +/- 3.3 years, 94% of the patients were white and 51% were female. Family income was < or = R