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Biomedical subjects

A Monier

Publications and source records attributed to A Monier.

7 recordsLinked to original sources
PubMed2005

[Aicardi-Goutieres syndrome: an oft unrecognised familial early-onset encephalopathy].

INTRODUCTION: Aicardi-Goutieres syndrome, first described in 1984, is a progressive infantile familial encephalopathy featuring cerebral calcifications, mainly of the basal ganglia, cerebral white matter abnormalities and cerebrospinal fluid lymphocytosis. Most of the patients present with severe developmental retardation, microcephaly, abnormal eye movements, pyramidal tract signs, and prominent dystonic movements. An elevated level of interferon-alpha in the CSF is a constant feature, particularly during the first stages of the disease course. One locus has been mapped on chromosome 3p21 in about half of the families so far studied. PATIENTS: and results. We report two new French cases and discuss the limits of the clinical syndrome, the differential diagnosis and issues raised by the pathophysiological mechanisms involved. The major concern is to separate this condition from intrauterine infections because of the genetic and therapeutic consequences. A number of other questions remain unanswered. For example, we still do not know today at what age the absence of features like CSF lymphocytosis, and possibly absence of calcifications, rules out the diagnosis of the condition. The origin of the vasculitis lesions is not known, but seems to be related to dysregulation of interferon production and secretion. CONCLUSION: Currently about 75 patients have been reported, even though many more probably exist. The study of this syndrome can contribute to the understanding of some mechanisms of CNS calcification and in a broader perspective to that of chronic encephalopathies with dysregulation of immune mechanisms.

Age of Onset↗
PubMed1996

The mRNA encoding a beta subunit of heterotrimeric GTP-binding proteins is localized to the animal pole of Xenopus laevis oocyte and embryos.

In order to provide evidence for a potential role of heterotrimeric GTP-binding proteins in the transduction of developmental signals, we prepared cDNAs from Xenopus laevis embryos and looked for fragments amplified between primers located in conserved sequences of the different subtypes of beta subunit. Using the amplified fragment as a probe, we cloned a member of the beta subunit family. The deduced protein sequence of the amphibian cDNA is highly homologous to the beta 1 subtype and, accordingly, we have named the Xenopus gene XG beta 1. In situ hybridization and RNase protection assay revealed that XG beta 1 mRNA is confined to the animal hemisphere of the mature oocyte. This localization of XG beta 1 mRNA is established at stage V during oogenesis. Following fertilization, the maternal mRNAs cosegregate with animal cells during cleavage stages. At gastrulation, transcripts are expressed in the dorsal ectoderm layer that will give rise to the central nervous system. Thus, XG beta 1 mRNA belongs to the small family of localized maternal mRNAs; as a transducing protein, its restriction to a subset of embryonic cells could mediate the distinct responsiveness which contributes to the patterning of the embryo.

Amino Acid Sequence↗
PubMed1996

[Liver abscess caused by Lactobacillus acidophilus].

Lactobacillus acidophilus is usually considered to be non pathogenic. We report a case of liver abscess due to Lactobacillus acidophilus in a 39 year-old man with chronic pancreatitis complicated by both endocrine and exocrine insufficiency, and with a choledoco-duodenostomy. Lactobacillus acidophilus was isolated in blood and liver samples. Complete recovery of the liver abscess occurred after antibiotherapy. We suggest that the abnormally low duodenal pH secondary to pancreatic insufficiency may have promoted both Lactobacillus acidophilus adhesion and multiplication in this patient. The choledoco-duodenostomy may then have promoted biliary tract colonisation.

Adult↗
PubMed1995

Hypoxemia does not affect the strength of the inspiration-inhibiting Breuer-Hering reflex.

Several studies were focused on the consequences of reduced PaO2 (hypoxemia) on the Breuer-Hering inspiration-inhibiting vagal reflex. However, these data are often contradictory and do not allow us to decide whether hypoxemia interacts with the central integration of pulmonary vagal afferents and/or exerts peripheral influence on pulmonary stretch receptor (PSR) activity. The present study was performed in anesthetized rabbits breathing different gas mixtures containing O2, N2 and CO2. Intravenous injection of bicarbonates and CO2 addition in the inspired mixture maintained pHa and PaCO2 within their physiological ranges. The Breuer-Hering reflex, assessed from the changes in diaphragmatic EMG activity, was elicited either by inflating the lungs at different volumes above the functional residual capacity (PSR activation) or by direct electrical stimulation of vagal afferents (central stimulation). Hypoxemia never significantly modified the strength of the reflex or its threshold. Thus, acute hypoxemia present at high altitude does not seem to modify the key role played by PSR afferents in the ventilatory control.

Animals↗