Upper Arm Anthropometry Is Not a Valid Predictor of Regional Body Composition in Preterm Infants

Background: Upper arm anthropometry has been used in the nutritional assessment of small infants, but it has not yet been validated as a predictor of regional body composition in this population. Objective: Validation of measured and derived upper arm anthropometry as a predictor of arm fat and fat-free compartments in preterm infants. Methods: Upper arm anthropometry, including the upper arm cross-sectional areas, was compared individually or in combination with other anthropometric measurements, with the cross-sectional arm areas measured by magnetic resonance imaging, in a cohort of consecutive preterm appropriate-for-gestationalage neonates, just before discharge. Results: Thirty infants born with (mean 8 SD) a gestational age of 30.7 8 1.9 weeks and birth weight of 1,380 8 325 g, were assessed at 35.4 8 1.1 weeks of corrected gestational age, weighing 1,785 8 93 g. None of the anthropometric measurements are reliable predictors (r 2 ! 0.56) of the measurements obtained by magnetic resonance imaging, individually or in combination with other anthropometric measurements. Conclusion: Both measured anthropometry and derived upper arm anthropometry are inaccurate predictors of regional body composition in preterm appropriate-for-gestational-age infants.

Intercorrências da Anestesia Regional em Obstetrícia. Avaliação Retrospectiva

Os autores fizeram uma revisão retrospectiva de 1902 grávidas submetidas a analgesia/anestesia regional no período decorrente de Julho a Dezembro de 2001. Foram detectadas 21 intercorrências relacionadas com a execução da técnica e complicações posteriores. Destaca-se a Punção acidental da dura-mater como intercorrência mais frequente (66%), obrigando a intervenção terapêutica e maior tempo de internamento hospitalar.

Técnicas de Anestesia Regional em Cirurgia Ortopédica Pediátrica - Estudo Retrospectivo de 2012

A anestesia regional em ortopedia apresenta vantagens claras na estabilidade hemodinâmica, perfusão do território cirúrgico e analgesia de qualidade superior. o objectivo deste estudo foi avaliar o tipo e frequência de técnicas realizadas no ano de 2012 em anestesia para cirurgia ortopédica pediátrica. Um total de 662 crianças agendadas para cirurgia electiva foram retrospectivamente estudadas no que diz respeito às técnicas regionais utilizadas. Foram realizadas 248 técnicas regionais em 2012. Houve urn predominio de bloqueios do neuro-eixo (63%) em relação aos bloqueios dos nervos periféricos (BNP) (37%). A ultrassonografia foi essencial nos BNP realizados, correspondendoa 75% dos casos. Na anestesia do membro superior os bloqueios mais frequentes foram o bloqueio do plexo braquialvia supra-clavicular (61%) e os BNP na fossa antecubital (23%). No membro inferior os bloqueios mais comuns foram o bloqueio do nervo ciciticopopliteo (41%) e o bloqueio de nervo femoral (35%). Colocaram-se cateteres contínuos de bloqueio de nervo periférico em 5 bloqueios do nervo ciático popliteo. o uso de ecografo tornou-se preponderante para a realização de bloqueios dos nervos periféricos dos membros com as vantagens já amplamente descritas na literatura. Parece haver margem para diminuir o número de técnicas do neuro-eixo em relação a realização de BNP com uma maior taxa de colocação de cateteres contínuos de bloqueio de nervo periférico, diminuindo deste modo a invasibilidade do neuro-eixo. 0 número total de BNP realizados parece claramente satisfatório embora careça de estudos comparativos com outras instituições que o comprove.

Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular Diagnosis

Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an unforeseeable physiopathologic variety. This wide genetic and physiologic heterogeneity that could largely increase in the coming years, hinders the molecular diagnosis in LCA patients. The genotyping is, however, required to establish genetically defined subgroups of patients ready for therapy. Here, we report a comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases. Mutations were identified in 47.5% patients. GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%). The clinical history of all patients with mutations was carefully revisited to search for phenotype variations. Sound genotype-phenotype correlations were found that allowed us to divide patients into two main groups. The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenital or very early cone-rod dystrophy, while the second group gathers patients affected with severe yet progressive rod-cone dystrophy. Besides, objective ophthalmologic data allowed us to subdivide each group into two subtypes. Based on these findings, we have drawn decisional flowcharts directing the molecular analysis of LCA genes in a given case. These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth.