Continuous non-invasive finger arterial pressure monitoring reflects intra-arterial pressure changes in children undergoing cardiac surgery.

Contains fulltext : 88974.pdf (publisher's version ) (Closed access)BACKGROUND: Continuous non-invasive measurement of finger arterial pressure (FAP) is a reliable technology in adults. FAP is measured with an inflatable cuff around the finger and simultaneously converted to a reconstructed brachial artery pressure waveform (reBAP) by the Nexfin device. We assessed the adequacy of a prototype device (Nexfin-paediatric), designed for a paediatric population, for detecting rapid arterial pressure changes in children during cardiac surgery. METHODS: Thirteen anaesthetized children with a median age of 11 months (2 months-7 yr) undergoing congenital cardiac surgery were included in the study. reBAP and intra-arterial pressure (IAP) were recorded simultaneously during the surgical procedure. To assess the accuracy of reBAP in tracking arterial pressure changes, the four largest IAP variations within a 5 min time interval were identified from each procedure. These variations were compared offline with reBAP during a 10 s control period before and a 10 s period after an arterial pressure change had occurred. RESULTS: In 10 out of 13 children, a non-invasive arterial pressure recording could be obtained. Therefore, recordings from these 10 children were eligible for further analysis, resulting in 40 data points. The correlation coefficient between reBAP and IAP in tracking mean arterial pressure (MAP) changes was 0.98. reBAP followed changes in IAP with a mean bias for systolic, diastolic arterial pressure, and MAP of 0.0 mm Hg (sd 5.8), 0.1 (sd 2.8), and 0.19 (sd 2.7), respectively. CONCLUSIONS: The prototype device closely follows arterial pressure changes in children. However, in a considerable number of attempts, obtaining a signal was time-consuming or unsuccessful. This technique seems promising but requires further technical development.1 oktober 201

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Item does not contain fulltextBaraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in one of the two ubiquitous cytoplasmic actin-encoding genes ACTB and ACTG1 that encode beta- and gamma-actins. We present detailed phenotypic descriptions and neuroimaging on 36 patients analyzed by our group and six cases from the literature with a molecularly proven actinopathy (9 ACTG1 and 33 ACTB). The major clinical anomalies are striking dysmorphic facial features with hypertelorism, broad nose with large tip and prominent root, congenital non-myopathic ptosis, ridged metopic suture and arched eyebrows. Iris or retinal coloboma is present in many cases, as is sensorineural deafness. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Nearly all patients with ACTG1 mutations, and around 60% of those with ACTB mutations have some degree of pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Reduction of shoulder girdle muscle bulk and progressive joint stiffness is common. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. One patient developed acute lymphocytic leukemia, and another a cutaneous lymphoma, indicating that actinopathies may be cancer-predisposing disorders. Considering the multifaceted role of actins in cell physiology, we hypothesize that some clinical manifestations may be partially mutation specific. Baraitser-Winter cerebrofrontofacial syndrome is our suggested designation for this clinical entity