[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.

[A fatal septic shock due to Capnocytophaga canimorsus and review of literature]. / Infection fulminante fatale à Capnocytophaga canimorsus : à propos d'un cas et revue de la littérature.

INTRODUCTION: Capnocytophaga canimorsus is a Gram-negative bacterium present in normal dogs and cats mouths. It can be responsible for septic shocks after dog or cat bite, especially in asplenic patients. CASE REPORT: We report here a case of C. canimorsus infection rapidly presenting as a multiple organ dysfonction syndrome in an immunocompetent 54 years old patient, who lives near a dog, without any sign of bite. The evolution was a rapidly fatal fulminant septic shock. CONCLUSION: Among patients with a septic shock of unknown etiology, fatal evolution due to C. canimorsus should be avoided by systematic use of early antibiotherapy with amoxicilline and clavulanic acid, especially in patients who live near a pet, even if they are immunocompetent.

[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.

[The flexibility of family medicine]. / La flexibilité en médecine générale.

We are a European academic group of family doctors and we propose a definition of flexibility in family medicine. A review of the literature shows that flexibility and complexity are emerging concepts in the field of family practice. The outcomes of a workshop at the WONCA-Europe congress in 2014 are discussed. The flexibility is a capability of the general practitioner to deal with complex clinical situations in a biomedical and societal changing world. Flexibility is framed by ethics. It could improve the quality of care, be useful against burnout and used in medical research. In conclusion, family medicine should adopt a specific definition of the flexibility describing its specificity, a useful and teachable capacity.

Pilus formation and protein secretion by the same machinery in Escherichia coli.

The secreton (type II secretion) and type IV pilus biogenesis branches of the general secretory pathway in Gram-negative bacteria share many features that suggest a common evolutionary origin. Five components of the secreton, the pseudopilins, are similar to subunits of type IV pili. Here, we report that when the 15 genes encoding the pullulanase secreton of Klebsiella oxytoca were expressed on a high copy number plasmid in Escherichia coli, one pseudopilin, PulG, was assembled into pilus-like bundles. Assembly of the 'secreton pilus' required most but not all of the secreton components that are essential for pullulanase secretion, including some with no known homologues in type IV piliation machineries. Two other pseudopilins, pullulanase and two outer membrane-associated secreton components were not associated with pili. Thus, PulG is probably the major component of the pilus. Expression of a type IV pilin gene, the E.coli K-12 gene ppdD, led to secreton-dependent incorporation of PpdD pilin into pili without diminishing pullulanase secretion. This is the first demonstration that pseudopilins can be assembled into pilus-like structures.

Multiple interactions between pullulanase secreton components involved in stabilization and cytoplasmic membrane association of PulE.

We report attempts to analyze interactions between components of the pullulanase (Pul) secreton (type II secretion machinery) from Klebsiella oxytoca encoded by a multiple-copy-number plasmid in Escherichia coli. Three of the 15 Pul proteins (B, H, and N) were found to be dispensable for pullulanase secretion. The following evidence leads us to propose that PulE, PulL, and PulM form a subcomplex with which PulC and PulG interact. The integral cytoplasmic membrane protein PulL prevented proteolysis and/or aggregation of PulE and mediated its association with the cytoplasmic membrane. The cytoplasmic, N-terminal domain of PulL interacted directly with PulE, and both PulC and PulM were required to prevent proteolysis of PulL. PulM and PulL could be cross-linked as a heterodimer whose formation in a strain producing the secreton required PulG. However, PulL and PulM produced alone could also be cross-linked in a 52-kDa complex, indicating that the secreton exerts subtle effects on the interaction between PulE and PulL. Antibodies against PulM coimmunoprecipitated PulL, PulC, and PulE from detergent-solubilized cell extracts, confirming the existence of a complex containing these four proteins. Overproduction of PulG, which blocks secretion, drastically reduced the cellular levels of PulC, PulE, PulL, and PulM as well as PulD (secretin), which probably interacts with PulC. The Pul secreton components E, F, G, I, J, K, L, and M could all be replaced by the corresponding components of the Out secretons of Erwinia chrysanthemi and Erwinia carotovora, showing that they do not play a role in secretory protein recognition and secretion specificity.

[Measurement of the variation in the thickness of lumbar disks over time in patients with lumbago]. / Mesure des variations avec le temps de l'épaisseur des disques lombaires chez les lombalgiques.

The average thickness of the last 3 lumbar disks was measured using an automatic image analyzer in 53 patients who were regularly followed-up both clinically and radiographically for an average period of 14.8 years (extremes: 6 and 39 years). This retrospective study showed that disks do not necessarily become pinched with age, even in patients with lumbago, that the rate of disk pinching is extremely variable from one patient to another, that disk collapse takes an average of 20 to 30 years, that there is a correlation between the severity of the lumbago and the rate at which the disk pinches, and that there are rapidly evolutive discopathies which are responsible for severe lumbago.

Cartilage destruction in experimentally induced osteoarthritis.

Section of the anterior cruciate ligament in the knee joint of mature dogs resulted in a progressive fibrillation of both tibial and femoral condylar cartilages. Reduced tissue microhardness and increased water content preceded fibrillation while fixed charge density remained unchanged. A different histological pattern of initial fibrillation was found, however, in femoral and tibial cartilages which exhibited tangential cleft and vertical splits, respectively. Tangential fibrillation alone was associated with necrosis of superficial cells. This suggests that the mechanism of early osteoarthritic cartilage destruction varies in different articular surfaces.

[Methods for evaluating non-steroidal anti-inflammatory agents in rheumatoid polyarthritis]. / Méthodes d'évaluation des anti-inflammatoires non stéroïdiens dans la polyarthrite rhumatoïde.

The study of the effectiveness of non-steroidal antiinflammatory drugs in rheumatoid arthritis requires only short term trials using simple, sensitive and reproducible tests based upon evaluation of pain. The estimation of spontaneous pain by the visual pain scale, number of nocturnal awakenings, Ritchie joint index, morning stiffness, grip strength and Lee functional index are the most informative parameters. The results of these quantitative tests of pain are usually in close agreement with patient judgement which remains the most important criterion.

[Cartilage of the head of the femoral in articular chondrocalcinosis (author's transl)]. / Le cartilage de la tête fémorale dans la chondrocalcinose articulaire.

A study of three femoral heads removed from patients suffering from articular chondrocalcinosis enabled the authors to identify the lesions of the cartilage in that disorder. They are mainly represented by crystals of calcium pyrophosphate. They appear within the cartilage which is macroscopically intact and histologically normal, but their location and the related tissue phenomena in their formation remain controversial and poorly understood. They accumulate in the various layers of the non-calcified cartilage within which they appear to hollow out genuine cavities by pushing back and then destroying the intercellular matrix and surrounding chondrocytes. In spite of their at times considerable size, the accumulations of crystals are not accompanied with fissures or erosion of cartilage tissue. This good histological tolerance appears to be explained by the distribution of calcification outside of the areas bearing pressure, which is in agreement with the often asymptomatic nature of chondrocalcinosis. These calcfications appear to be able to render cartilage fragile and to lead to pseudoarthrosic arthropathy when they are abundant and spread through the entire surface of a joint.

[Extensive apical pulmonary fibrosis complicating ankylosing spondylitis. 2 cases (author's transl)]. / Fibrose pulmonaire apicale extensive compliquant une spondylarthrite ankylosante. 2 cas.

The authors describe two cases of pulmonary fibrosis in patients suffering from ankylosing spondylitis. The diagnosis of tuberculosis was rejected on the basis of negative studies for tubercle bacilli and the total ineffectiveness of specific therapy. No evidence of microbial or parasitic infection was found. This fibrosis was associated with a considerable worsening in general condition. Nevertheless, the first patient remains alive 15 years after the onset of this pathological manifestation. The second patient died but autopsy was not possible. A wide review of the literature is undertaken in the light of these two cases.

[Myelopathies cervical arthroses. Apropos of 14 personal cases, 12 of which were operated on]. / Les myélopathies des cervicarthroses. A propos de 14 observations personnelles dont 12 opérées

Reviewing fourteen cases, the authors show that cervical myelopathies present by spastic quadriplegia associated in half of the cases with sensory impairment and in a third of cases with radicular signs in the upper limbs. Tomography always shows posterior discal osteophytosis, sometimes gross, which reduces the lumen of the canal more particularly since it is associated (eleven times out of fourteen) with constitutional stenosis, of variable severity. Opaque or gaseous myelography makes it possible to exclude malformation or new formation and will demonstrate cord constriction within the canal. Surgical treatment (eleven laminectomies, 1 discectomy-artrodesis) resulted in 7 improvements, no change in 3 cases and 2 exacerbations. The myelopathies appeared to be due to repeated contusions of the cord and its arteries against the wall of the canal, caused by neck movements.