Hemodynamic effects of increased intra-abdominal pressure in critically ill children

Abstract Objective: To evaluate the influence of intra-abdominal pressure on the cardiac index (CI) at different intra-abdominal hypertension grades achieved when performing an abdominal compression maneuver (ACM). Evaluating the effectiveness of the ACM in distending the left internal jugular vein (LIJV). Methods: Prospective observational study conducted in the PICU of a quaternary care teaching hospital. Participants underwent the ACM and the IAP was measured with an indwelling urinary catheter. At each IAH grade reached during the ACM, the CI was measured by transthoracic echocardiography and the LIJV cross-sectional area (CSA) was determined by ultrasonography. Results: Twenty-four children were included (median age and weight of 3.5 months and 6.37 kg, respectively). The median CI observed at baseline and during IAH grades I, II, III, and IV were 3.65 L/min/m2 (IQR 3.12−4.03), 3.38 L/min/m2 (IQR 3.04−3.73), 3.16 L/min/m2 (IQR 2.70−3.53), 2.89 L/min/m2 (IQR 2.38−3.22), and 2.42 L/min/m2 (IQR 1.91−2.79), respectively. A 25% increase in the LIJV CSA area was achieved in 14 participants (58%) during the ACM. Conclusion: The ACM significantly increases IAP, causing severe reversible impairment in the cardiovascular system and is effective in distending the LIJV in just over half of the subjects. Even low levels of HIA can result in significant cardiac dysfunction in children. Therefore, health professionals should be aware of the negative hemodynamic repercussions caused by the increased IAP.

HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? / Formas familiares de hiperparatireoidismo relacionadas a mutações no gene HRPT2: estudos moleculares poderiam direcionar procedimentos cirúrgicos?

It is still debatable which is the best management to familial forms of hyperparathyroidism. Conservative, minimally invasive or aggressive surgical approaches have been proposed from different groups around the world. Our objective was to study the gene mutation, expression of HRPT2 and the clinical outcome after 32 years of follow-up in one Brazilian kindred with familial isolated hyperparathyroidism (FIHP). Clinical and biochemical data, direct sequencing of the HRPT2 gene, analysis of parafibromin expression using RT-PCR, and immunohistochemistry were done. A nonsense mutation was found in exon 1 (c.96G>A)(p.Trp32X) in all affected members studied. Using RT-PCR, mRNA transcription was altered with complete absence of both transcripts in tumor tissue. Immunohistochemical analysis of tumors showed loss of parafibromin immunoreactivity. In this kindred there was a high prevalence of recurrence (75 percent), or persistence after less than subtotal parathyroidectomy that led us to consider a more aggressive surgical approach should be discussed among the affected family members, once surgical criteria was met. We concluded that it is necessary to individualize the surgical approach for HRPT2-related hyperparathyroidism until we can gather a better phenotype-genotype correlation in larger series, to best define their treatment.

A melhor conduta nas formas familiares de hiperparatireoidismo relacionadas a mutações no gene HRPT2 ainda é controvertida. Cirurgias conservadoras, minimamente invasivas ou mais agressivas já foram propostas por diferentes grupos. Objetivamos estudar a seqüência e a expressão do gene HRPT2, além do desfecho clínico, após seguimento de até 32 anos de uma família brasileira com hiperparatireodismo familiar isolado (FIHP). Utilizamos dados clínicos e bioquímicos, seqüenciamento direto do HRPT2 além de análise da expressão da parafibromina através da RT-PCR e imunohistoquímica. Foi identificada mutação nonsense no éxon 1 (c.96G>A)(p.Trp32X) em todos os membros afetados que foram estudados. A análise do mRNA transcrito, através da RT-PCR, demonstrou ausência do transcrito no tecido tumoral. A imunohistoquímica também evidenciou ausência da parafibromina. Nessa família houve alta (75 por cento) prevalência de recorrência ou persistência da doença após paratireoidectomia parcial o que nos levou a considerar fundamental discutir uma abordagem cirúrgica mais agressiva com os outros familiares portadores da mutação caso critérios de indicação cirúrgica sejam atingidos. Dessa maneira, até que estudos mais amplos estabeleçam uma correlação genótipo-fenótipo no hiperparatireoidismo familiar relacionado a mutações no HRPT2, a abordagem cirúrgica deverá ser individualizada.