Hiperoxalúria primária com insuficiência renal crônica terminal em lactente

Objetivo: descrever caso clínico de um lactente com insuficiência renal crônica terminal, causada por hiperoxalúria primária.Método: após revisão da literatura, verifica-se a raridade da doença; na França, a prevalência é de 1,05/milhão, com taxa de incidência de 0,12/milhão/ano. Pesquisa abordando centros especializados mundiais detectou, em 1999, 78 casos em lactentes; destes, em 14% o quadro inicial foi de uremia. A gravidade e a raridade da doença sugerem o relato deste caso.Resultados: criança de sexo feminino, com quadro de vômitos e baixo ganho de peso desde os primeiros meses de vida, desenvolveu insuficiência renal terminal aos 6 meses de idade, sendo mantida em tratamento dialítico desde então. Aos 8 meses, foi encaminhada para esclarecimento diagnóstico, apresentando déficit pôndero-estatural grave e os seguintes exames laboratoriais: uréia= 69 mg/dl, creatinina=2,2 mg/dl e clearance de creatinina= 12,5 ml/min/1.73m²SC. O exame de urina foi normal, a ultra-sonografia renal revelou tamanho normal e hiperecogenicidade de ambos os rins. A dosagem de oxalato urinário foi de 9,2mg/kg/dia ou 0,55 mmol/1.73m²SC, e a relação oxalato:creatinina, de 0,42. A biópsia renal diagnosticou presença de grande quantidade de depósitos de cristais de oxalato de cálcio no parênquima renal. A radiografia de ossos longos evidenciou sinais sugestivos de osteopatia oxalótica, e a fundoscopia indireta, sinais de retinopatia por oxalato. A criança foi mantida em diálise peritoneal ambulatorial contínua, tendo sido iniciado tratamento com piridoxina.Conclusões: a hiperoxalúria primária deve ser considerada como um dos diagnósticos diferenciais de insuficiência renal crônica em lactentes, especialmente na ausência de história sugestiva de outras patologias.

Crescimento de prematuros de extremo baixo peso nos primeiros dois anos de vida

OBJETIVO: Analisar o padrão de crescimento de prematuros de extremo baixo peso (EBP) até 24 meses de idade corrigida, a influência da displasia broncopulmonar (DBP) e os fatores de risco para falha de crescimento. MÉTODOS: Coorte de prematuros <1.000g de gestação única, nascidos e acompanhados em um centro terciário. O crescimento foi avaliado por meio de escores-z para peso, comprimento e perímetro cefálico ao nascimento, com 40 semanas, aos 3, 6, 12, 18 e 24 meses de idade corrigida. Dentre 81 sobreviventes, 70 foram estudados e estratificados em dois grupos: DBP (n=41) e sem DBP (n=29). Foi realizada análise bivariada com teste t ou Mann-Whitney, qui-quadrado ou Exato de Fisher, e análise multivariada com regressão logística. RESULTADOS: em ambos os grupos, o escore-z de peso diminuiu significantemente entre o nascimento e 40 semanas. Houve um pico de incremento nos escores-z de peso, comprimento e perímetro cefálico entre 40 semanas e três meses. No grupo sem DBP, os escores-z atingiram a faixa normal a partir dos seis meses e assim permaneceram até 24 meses de idade corrigida. Crianças com DBP tiveram menores escores-z de peso e perímetro cefálico no primeiro ano, mas equipararam-se às sem DBP no segundo ano de vida. A regressão logística mostrou que catch-down no escore-z de peso com 40 semanas foi fator de risco para falha de crescimento. CONCLUSÕES: Prematuros EBP apresentam catch-up precoce do crescimento nos primeiros dois anos. Crianças com DBP têm pior crescimento ponderal. A restrição do crescimento pós-natal prediz a falha de crescimento nos primeiros anos.

Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome

Fluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children.

Crescimento de prematuros de baixo peso ao nascer nos dois primeiros anos de vida: influência da Síndrome hipertensiva gestacional

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Perfil clínico de crianças com indicação da cirurgia das tonsilas em um hospital terciário universitário

The indications for adenotonsillectomy in pediatric patients have changed considerably during the 90th decade. Local or systemic complications of the adenoid or tonsil hypertrophy itself have now been substituted by signs of obstructive ventilatory disturbances, including obstructive sleep apnea as the major indications for surgery. Objective: This study analyses the clinical profile of children submitted to adenotonsilectomy in their pre and postoperative state, at Botucatu Medical School-State University São Paulo, UNESP. Methods: 332 children of both genders, aged 1 to 12 years, who underwent adenotonsillectomy between 1999 and 2004, were studied, focused on epidemiological profile, pre and postoperative (1 month) symptoms, obtained from medical records. Height and weight were compared to brazilian normal age related values. Results: We found a predominance of the male gender, except in he group aged from 10 to 12 years. Considering wheight and height, we found important failure to thrive, mostly for height deficit. Among clinical aspects, we found a significant reduction in obstructive symptoms like snoring or apneia (p<0001) in the postoperative period. Conclusion: Our results were similar to the literature findings of patients clinical profile. The major indication for adenotonsillectomy in our service was clinical diagnosis of obstructive sleep apnea.

Clues to the presence of pathogenic fungi in certain environments

The presence of various pathogenic fungi in rather unsuspected hosts and environments has always attracted the attention of the scientific community. Reports on the putative role of animals in fungal infections of humans bear important consequences on public health as well as on the understanding of fungal ecology. Fungi are ubiquitous in nature and their great capacity for adaptation allows them to survive and indeed, to thrive, in plants, trees and other natural substrata. Nonetheless, we are just beginning to learn the significance that these diverse fungal habitats have on the increasing number of immunosuppressed individuals. The accidental or permanent presence of fungi in animals, plants, soils and watercourses should not be taken too lightly because they constitute the source where potential pathogens will be contracted. If those fungal habitats that carry the largest risks of exposure could be defined, if seasonal variations in the production of infectious propagules could be determined, and if their mode of transmission were to be assessed, it would be possible to develop protective measures in order to avoid human infection. Additionally, unsuspected avenues for the exploration of fungal survival strategies would be opened, thus enhancing our capacity to react properly to their advancing limits. This paper explores several ecological connections between human pathogenic fungi and certain animals, trees, waterways and degraded organic materials. The occurrence of such connections in highly endemic areas will hopefully furnish more precise clues to fungal habitats and allow the design of control programs aimed at avoiding human infection.

Immunosuppression in paracoccidioidomycosis: T cell hyporesponsiveness to two Paracoccidioides brasiliensis glycoproteins that elicit strong humoral immune response

To assess human cellular immune response to paracoccidioidomycosis (PCM), lymphocyte proliferative responses to purified antigens from Paracoccidioides brasiliensis were determined in healthy persons previously infected by the fungus (positive donors), in healthy noninfected persons (controls), and in PCM patients. Affinity-purified gp70 and gp43, the two major antigens in humoral immune responses, were used, Both induced lymphocyte proliferation (gp43 species-specific) in positive donors but not in controls; healthy persons previously infected by Histoplasma capsulatum reacted to gp70 and not to gp43, A similar cross-reactivity in antibody response to gp70 was previously reported; however, antibody response to gp43 has been considered specific, Lymphocytes from PCM patients, who, unlike positive donors, have high levels of anti-gp43 and anti-gp70 antibodies, proliferated poorly with gp70 and gp43 but better with other stimuli, This dichotomy between humoral and cellular antigen-specific responses suggests a Th2 immune response in PCM, which may be related to failure to control the infection.

Staphylococcal carriage and antibodies to toxic shock syndrome toxin 1 in Brazilian women

A study of 215 women from different socioeconomic backgrounds in Botucatu, Brazil, was conducted to reveal possible clues why toxic shock syndrome (TSS) is seldom diagnosed in Brazil. Of the 215 women, 79 were colonized with Staphylococcus aureus either in the nasal passages and/or in the vaginal area, which is comparable to the colonization of individuals in the developed countries Thirteen of the women were colonized with S. aureus that produced toxic shock syndrome toxin-1 (TSST-1), the toxin responsible for the majority of cases of TSS. Eleven strains produced enterotoxin B, the only enterotoxin implicated in TSS, primarily in non-menstrual TSS. Enterotoxin A was produced by 15 strains and is commonly associated with the production of TSST-1, but has not been implicated in TSS. Seven strains produced enterotoxin D and one strain produced enterotoxin C, but these have not been implicated in TSS. Only 9 women used tampons which may be a major reason for the lack of menstrual TSS in Brazil, Only two of the 49 women whose sera were examined for the presence of antibodies to TSST-1 had no or very low antibody titers, the major protection against the development of TSS, both menstrual and non-menstrual TSS. This is a lower percentage than has been observed in the developed countries. Although another possibility for the lack of TSS in Brazil is the failure to recognize the disease, however, the results of this limited study indicate the importance of low usage of tampons and the high percentage of individuals with antibodies to TSST-1. The socioeconomic backgrounds of the participants were of little significance.

Gross Motor Deficits in Children Prenatally Exposed to Alcohol: A Meta-analysis

BACKGROUND AND OBJECTIVES: Gross motor (GM) deficits are often reported in children with prenatal alcohol exposure (PAE), but their prevalence and the domains affected are not clear. The objective of this review was to characterize GM impairment in children with a diagnosis of fetal alcohol spectrum disorder (FASD) or moderate to heavy maternal alcohol intake.METHODS: A systematic review with meta-analysis was conducted. Medline, Embase, Allied and Complementary Medicine Database, Cumulative Index to Nursing and Allied Health Literature, PsycINFO, PEDro, and Google Scholar databases were searched. Published observational studies including children aged 0 to <= 18 years with (1) an FASD diagnosis or moderate to heavy PAE, or a mother with confirmed alcohol dependency or binge drinking during pregnancy, and (2) GM outcomes obtained by using a standardized assessment tool. Data were extracted regarding participants, exposure, diagnosis, and outcomes by using a standardized protocol. Methodological quality was evaluated by using Strengthening the Reporting of Observational Studies in Epidemiology guidelines.RESULTS: The search recovered 2881 articles of which 14 met the systematic review inclusion criteria. The subjects' mean age ranged from 3 days to 13 years. Study limitations included failure to report cutoffs for impairment, nonstandardized reporting of PAE, and small sample sizes. The meta-analysis pooled results (n = 10) revealed a significant association between a diagnosis of FASD or moderate to heavy PAE and GM impairment (odds ratio: 2.9; 95% confidence interval: 2.1-4.0). GM deficits were found in balance, coordination, and ball skills. There was insufficient data to determine prevalence.CONCLUSIONS: The significant results suggest evaluation of GM proficiency should be a standard component of multidisciplinary FASD diagnostic services.

Genetic correlations between heifer subsequent rebreeding and age at first calving and growth traits in Nellore cattle by Bayesian inference

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The Effects of 6% Hydroxyethyl Starch-Hypertonic Saline in Resuscitation of Dogs with Hemorrhagic Shock

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Comparação entre dois testes de rastreamento do diabetes gestacional e o resultado perinatal

OBJETIVO: comparar dois testes de rastreamento para diabetes e seus resultados com o resultado da gestação. MÉTODOS: no total, 279 pacientes foram submetidas a dois testes de rastreamento do diabetes gestacional - associação glicemia de jejum e fatores de risco (GJ + FR) e o teste de tolerância à glicose simplificado (TTG50g). O rastreamento pela associação GJ + FR caracterizou-se pela dosagem da glicemia de jejum e anamnese para identificação dos fatores de risco na primeira consulta de pré-natal. O TTG50g foi realizado entre a 24ª e a 28ª semana de gestação e caracterizou-se pela dosagem das glicemias plasmáticas em jejum e uma hora após a sobrecarga oral com 50 g de glicose. Os resultados, positivo e negativo, foram relacionados ao resultado da gestação. Foram consideradas variáveis dependentes: via de parto, idade gestacional, peso e índice ponderal ao nascimento, índices de Apgar <7 no 1º e 5º minutos, necessidade de Unidade de Terapia Intensiva (UTI), tempo de permanência hospitalar e óbito neonatal. Empregou-se o teste t de Student, admitindo-se 5% como limite de significância para calcular a diferença de proporção de das médias. RESULTADOS: apenas dois resultados perinatais estudados foram diferenciados pelos testes. O TTG50g alterado esteve associado à maior proporção de cesárea (58,7 versus 34,3%) e a associação GJ + FR positiva, maior taxa de prematuridade (15,4 versus 5,4%). As demais variáveis não foram diferentes nas pacientes com testes de rastreamento positivo e negativo. CONCLUSÕES: Apesar da relação entre a prematuridade e associação GJ + FR positiva e aumento de cesárea e TTG50g alterado, seria falha crítica aceitá-los como definitivos. Entre outras explicações, múltiplos fatores intercorrentes e as características próprias dos testes de rastreamento devem ser consideradas.

Circuit board accident - organizational dimension hidden by prescribed safety

This study analyzes an accident in which two maintenance workers suffered severe burns while replacing a circuit breaker panel in a steel mill, following model of analysis and prevention of accidents (MAPA) developed with the objective of enlarging the perimeter of interventions and contributing to deconstruction of blame attribution practices. The study was based on materials produced by a health service team in an in-depth analysis of the accident. The analysis shows that decisions related to system modernization were taken without considering their implications in maintenance scheduling and creating conflicts of priorities and of interests between production and safety; and also reveals that the lack of a systemic perspective in safety management was its principal failure. To explain the accident as merely non-fulfillment of idealized formal safety rules feeds practices of blame attribution supported by alibi norms and inhibits possible prevention. In contrast, accident analyses undertaken in worker health surveillance services show potential to reveal origins of these events incubated in the history of the system ignored in practices guided by the traditional paradigm.

Prolonged interval between parturition of normal live pups in a bitch

On day 64 after artificial insemination, a six-year-old primiparous briard bitch whelped three live pups between 05.00 and 08.00. It was presented at 11.00 on the same day with failure to complete parturition. on ultrasound examination, a normal live fetus was observed and the bitch was treated with oxytocin three times during the day (1(.)0, 2(.)0 and 2(.)0 iu intramuscularly), with no effect. The following day, a higher dose of oxytocin (5(.)0 iu) was administered intramuscularly at 11.00, after a uterine ultrasound examination confirmed viability of the fetus. At 18.00 of the same day, the bitch whelped the fourth normal live pup, 37 hours after initiation of parturition and 34 hours after expulsion of the last fetus. Effectiveness of oxytocin and normal versus prolonged parturition due to uterine inertia are discussed.

Prospective study of soft tissue contour changes following chin bone graft harvesting

This study sought to evaluate changes in the soft tissue contour after chin bone graft harvesting. Thirty selected patients underwent chin bone graft harvesting and evaluations were made using lateral cephalograms preoperatively and postoperatively at 30 and 180 days. Fixed points and lines were established on cephalometric tracings and used to measure the selected vertical and sagittal parameters. Results showed statistically significant alterations to the vertical position values of the vermilion (V-VPV) which increased from 9.70 to 11.01 and the exposure of lower incisors (V-ELI) which increased from 1.85 to 3.5, showing an increase in their distance from the plane of reference and a lowering of their position, the clinical equivalent of a labial ptosis condition. None of the sagittal parameters analysed showed any statistically significant variation in the final evaluation. The study concluded that the alterations to patients' soft tissue contours resulted mainly from failure to ensure precise reattachment of the mentalis muscles and identified the need for further investigation of that aspect.