[A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature]. / Polyglobulie rare par mutation du gène EGLN1 : à propos d'un cas et revue de la littérature.

INTRODUCTION: The origin of polycythemia is often simple to detect. Sometimes it is necessary to look for hereditary forms, the decisive parameters being the dosage of erythropoietin and the measurement of the oxygen dissociation curve (P50). These rare diseases are related to high oxygen-affinity haemoglobins, abnormalities of the erythropoietin receptor or dysfunction of the HIF (hypoxia-inducible factor) pathway. CASE REPORT: We report the case of a 56-year-old patient with unexplained polycythemia associated with normal serum erythropoietin and normal P50, in whom the never previously described mutation c.400C>T(p.Gln134*) on exon 1 in the EGLN1 gene (encoding PHD2) was found. CONCLUSION: In the face of an unexplained polycythemia a good cooperation between clinicians and biologists is necessary to be able to characterize rare hereditary pathologies.

[Diagnostic workup in front of an atypical non hemolytic anemia]. / Démarche diagnostique devant une anémie « non hémolytique ¼ sans étiologie apparente.

The most potential causes of "non hemolytic" anemias are iron, folate or vitamin B12 deficiencies, severe renal impairment, endocrine diseases, inflammation and medullary disorders. In a non-exceptionnal way no cause is found, sometimes because of a wrong interpretation of analysis results and sometimes because of a little known etiology. The goal of this review is to point out analytical difficulties and to remember some rarer etiologies.

[Two cases of myeloid sarcomas with review of literature]. / Sarcome granulocytaire : à propos de 2 cas et revue de la littérature.

INTRODUCTION: Myeloid sarcomas are uncommon proliferations of immature myeloid cells occurring in any extramedullary organ. We report here two cases of myeloid sarcomas in patients with, respectively, a polycythemia vera and a myelodysplastic syndrome. CASE REPORTS: The first is an 81-year-old woman who presented with osteolytic lesions. Diagnosis has been highlighted using anatomopathological study after bone marrow biopsy, but it was delayed because of a very localized basin lesion and few positive myeloid markers. The second patient is an 86-year-old man who presented with pancytopenia and several lymph nodes. Lymph node cytology failed because of the rarity of blast cells. Diagnosis was done after anatomopathological study on lymph node biopsy which revealed a localized form of myeloid sarcoma. CONCLUSION: The diagnosis of myeloid sarcoma must be considered when unusual tumors occur in patients with a chronic myeloid disease. In that case, therapeutic options are those of an acute myeloid leukemia.

Effects of the stress of sampling and of anaesthesia on the metabolic status of suckling rabbits.

The stress of anaesthesia and of sampling on the concentrations of blood metabolites and tissue glycogen content was studied in awake, anaesthetized and decapitated young rabbits 1-2 days old ("young") and 17-18 days old ("old"), 24 h after the last controlled suckling. Stress of sampling and anaesthesia was particularly evidenced by high blood lactate observed for the three protocols in young rabbits and to a lesser extent in old animals. Decapitation appeared as the less aggressive procedure for blood lactate assessment in "young" and "old" rabbits. In "young" rabbits, blood glucose was not significantly modified by the mode of blood sampling while in "old" rabbits blood glucose was significantly lower in awake than in anaesthetized animals. Muscle and liver glycogen content data were not significantly different between the three protocols in old and young rabbits. From a comparison of these results with those found in adult animals in various species, it appears that blood puncture in awake "young" and "old" rabbits is a suitable procedure for determining the majority of blood metabolites except lactate in "young" animals.

Evolution of glycogen and blood metabolites after controlled suckling at two periods of lactation in young rabbits.

In natural conditions young rabbit nurses once a day and therefore ingests the whole of his daily caloric intake during a single meal. The present work investigates glucose homeostasis during perinatal period in young rabbit by assessing blood glucose and glycogen stores before and after one single meal. Ponderal data, glycogen and blood metabolites were determined in 1-4 day- and 17-21 day-old rabbits before suckling and at different times (1, 3, 6, 9, 24, 48, 72 h) after controlled suckling. In "young" and "old" rabbits hepatic glycogen stores were exhausted after 48 and 72 h of fast. Within the first hours following milk ingestion, muscle and carcass glycogen did not vary until 9 h in the "young" and until 24 h in the "old" without notable variation of glycemia. From 24 to 72 h young rabbits were in a fasting period with low hepatic glycogen and a decrease of muscle and carcass glycogen, but glycaemia decreased only slightly at 48 and 72 h in "young" and at 72 h in "old" As blood alanine was decreased, it appears that gluconeogenesis was effective and that alanine-glucose and Cori cycles were operating in these conditions.

[Stimulation of insulin secretion by medium-chain fatty acids in the diet of young rabbits]. / Stimulation de la sécrétion insulinique par les acides gras à chaîne moyenne de l'alimentation chez le lapereau.

In the young rabbit, immunoreactive serum insulin (IRI) significantly rises during the first 5 min after suckling and then 20-60 min later, at which time the maximum level is reached. Blood glucose levels remain stable, blood ketone bodies increase 2.7 times and the liver glycogen levels decrease. Replacement of maternal milk by an equal volume of 0.9% NaCl, 2% lactose or 3.5% glycerol does not induce any change in IRI. IRI significantly rises if solutions of bovine milk proteins or skimmed rabbit's milk are administered. This effect is quickened and strengthened by the addition of coconut oil or lipids of rabbit's milk whereas sunflower oil is ineffective. It is suggested that medium-chain fatty acids, major components of rabbit's milk lipids, play an important role in the regulation of insulin secretion in the young rabbit.

[Influence of pH on the transfer of volatile fatty acids in the isolated cecal wall of the rat]. / Influence du pH sur les transferts des acides gras volatils dans la paroi caecale isolée du rat.

The influence of pH on the transfer of acetic, propionic and butyric acids was studied in vitro using everted sacs of the rat caecum. The sacs were filled with 2 ml of saline medium and then shaken 1 hr at 38 degrees C in flasks containing the same medium. A Krebs-Ringer phosphate incubation medium was used with O2 as gas phase. Incubation mediums containing 15 mM acetic, propionic and butyric acids were adjusted to give three different pH values: 7.91, 7.00 and 6.03. After incubation the mucosal and serosal fluids were collected and samples were taken to determine the pH and the volatile fatty acid concentrations. The pH values of mucosal and serosal fluids changed slightly during the course of the experiments. There was net volatile fatty acid influx into caecal tissue from the serosal medium and into the mucosal medium from the caecal tissue. Lowering the pH from 7.00 to 6.03 resulted in a significant decrease of serosal volatile fatty acid influxes. Caecal tissue retained more volatile fatty acids by lowering the pH from 7.91 to 7.00 and 6.03. Acetic acid accumulated in the caecal tissue against its electro-chemical gradient at pH 6.03. Two different mechanisms appeared to favor the transport of ionized and non-ionized forms of volatile fatty acids through the caecal membranes.

[Transfer of volatile fatty acids in rat isolated cecum wall]. / Transfert des acides gras volatils dans la paroi du caecum isolé de rat.

The transfer of acetic, propionic and butyric acids was studied in vitro, using everted sacs of rat caecum. In experiments it was never shown an absorption against the electrochemical potentiel. Short fatty acids flux through caecal membranes is assumed to involve solely passive diffusion.