Association of circulating angiotensin converting enzyme activity with respiratory muscle function in infants

<p>Abstract</p> <p>Background</p> <p>Angiotensin converting enzyme (ACE) gene contains a polymorphism, consisting of either the presence (I) or absence (D) of a 287 base pair fragment. Deletion (D) is associated with increased circulating ACE (cACE) activity. It has been suggested that the D-allele of ACE genotype is associated with power-oriented performance and that cACE activity is correlated with muscle strength. Respiratory muscle function may be similarly influenced. Respiratory muscle strength in infants can be assessed specifically by measurement of the maximum inspiratory pressure during crying (Pi_max). Pressure-time index of the respiratory muscles (PTImus) is a non-invasive method, which assesses the load to capacity ratio of the respiratory muscles.</p> <p>The objective of this study was to determine whether increased cACE activity in infants could be related to greater respiratory muscle strength and to investigate the potential association of cACE with PTImus measurements as well as the association of ACE genotypes with cACE activity and respiratory muscle strength in this population.</p> <p>Methods</p> <p>Serum ACE activity was assayed by using a UV-kinetic method. ACE genotyping was performed by polymerase chain reaction amplification, using DNA from peripheral blood. PTImus was calculated as (Pi_mean/Pi_max) × (Ti/Ttot), where Pi_meanwas the mean inspiratory pressure estimated from airway pressure, generated 100 milliseconds after an occlusion (P_0.1), Pi_maxwas the maximum inspiratory pressure and Ti/Ttot was the ratio of the inspiratory time to the total respiratory cycle time. Pi_maxwas the largest pressure generated during brief airway occlusions performed at the end of a spontaneous crying effort.</p> <p>Results</p> <p>A hundred and ten infants were studied. Infants with D/D genotype had significantly higher serum ACE activity than infants with I/I or I/D genotypes. cACE activity was significantly related to Pi_maxand inversely related to PTImus. No association between ACE genotypes and Pdi_maxmeasurements was found.</p> <p>Conclusions</p> <p>These results suggest that a relation in cACE activity and respiratory muscle function may exist in infants. In addition, an association between ACE genotypes and cACE activity, but not respiratory muscle strength, was demonstrated.</p

Impact of inactivity and exercise on the vasculature in humans

The effects of inactivity and exercise training on established and novel cardiovascular risk factors are relatively modest and do not account for the impact of inactivity and exercise on vascular risk. We examine evidence that inactivity and exercise have direct effects on both vasculature function and structure in humans. Physical deconditioning is associated with enhanced vasoconstrictor tone and has profound and rapid effects on arterial remodelling in both large and smaller arteries. Evidence for an effect of deconditioning on vasodilator function is less consistent. Studies of the impact of exercise training suggest that both functional and structural remodelling adaptations occur and that the magnitude and time-course of these changes depends upon training duration and intensity and the vessel beds involved. Inactivity and exercise have direct “vascular deconditioning and conditioning” effects which likely modify cardiovascular risk

Progressive myoclonus epilepsies. Criteria for diagnosis on the basis of the follow-up of 37 cases.

The authors report the clinical criteria for the diagnosis of progressive myoclonus epilepsies on the basis of their experience following 34 cases (2 with sialidosis, 2 with MERRF, 4 with Lafora disease, 24 with Unverricht-Lundborg type, 4 with ataxic myoclonus). 3 rare forms of PME are also reported: a case of lipoma and PME, a family with dentato-rubro-pallido-luysian atrophy and a family of myoclonus epilepsy, Hartung type. The autonomy of Ramsay Hunt syndrome is discussed on the light of recent molecular genetic data

Sensory-motor chronic neuropathy in two siblings: atypical presentation of tomaculous neuropathy.

Two siblings, born from a consanguineous marriage, in which tomaculous neuropathy (TN), diagnosed after nerve biopsy, presented as a chronic sensory-motor neuropathy. The clinical manifestations include also in both patients thyroid multinodular struma and in one case myopathic-like features. We believe that TN must be suspected not only in hereditary neuropathy with liability to pressure palsies, but also in any case with chronic sensory-motor neuropath

La patologia della sostanza bianca alla RM osservata da un clinico.

La patologia della sostanza bianca alla RM osservata da un clinic

Glycosaminoglycans and glycoproteins in metachromatic leucodystrophy.

A study is reported of the brain glycoproteins and the glycosaminoglycans in a case of infantile metachromatic leucodystrophy, associated with a ponto-cerebellar systemic atrophy, verified by autopsy. The glycosaminoglycan concentrations in the grey matter were within the normal range, while in the white matter they were slightly increased. The glycopeptides from the soluble and insoluble glycoproteins of white matter were altered not only in their quantity but also in their composition. In the grey matter a decrease of all sugars except the NaNa was detected in the insoluble fraction while in the soluble no change was detected, except for a threefold increase of fucose. The relationship was discussed of soluble to insoluble glycoproteins, and a mechanism for their derangement in MLD was suggested

Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondriali.

Patologia oculare nelle encefalo-neuro-miopatie genetiche mitocondrial