[The role of HFNC oxygen in pre-oxygenation prior to intubation and the practice of invasive procedures]. / Place de l'oxygénothérapie haut débit dans la pré-oxygénation pour l'intubation et la pratique des gestes invasifs.

Over recent years, High Flow Nasal Cannula (HFNC) oxygen therapy has been more and more extensively applied in numerous medical settings, and it is now carried out in invasive procedures such as pre-oxygenation before orotracheal intubation, often leading to complications. More generally, pre-oxygenation is aimed at maintaining the highest possible oxygen saturation for extended periods of time. With this in mind, HFNC seems as effective as standard oxygen delivery with regard to hematosis in patients with mild or moderate hypoxemia, and it presents the advantage of reducing the adverse events associated with intubation. That said, during pre-oxygenation of patients with severe hypoxemia, non-invasive ventilation (NIV) is probably more effective than HFNC, especially in the prevention of respiratory events. However, in patients with little or no hypoxemia undergoing risky procedures such as bronchial endoscopy, HFNC allows better oxygen saturation than standard methods. To summarize, even though NIV remains useful in unstable patients, especially in decreasing desaturation episodes, HFNC could represent a reasonable alternative in case of poor tolerance, allowing continuous oxygenation of patients requiring digestive endoscopy or trans-esophageal ultrasound.

Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Deficiencies of mitochondrial respiratory chain complex I frequently result in leukoencephalopathy in young patients, and different mutations in the genes encoding its subunits are still being uncovered. We report 2 patients with cystic leukoencephalopathy and complex I deficiency with recessive mutations in NDUFA2, an accessory subunit of complex I. The first patient was initially diagnosed with a primary systemic carnitine deficiency associated with a homozygous variant in SLC22A5, but also exhibited developmental regression and cystic leukoencephalopathy, and an additional diagnosis of complex I deficiency was suspected. Biochemical analysis confirmed a complex I deficiency, and whole-exome sequencing revealed a homozygous mutation in NDUFA2 (c.134A>C, p.Lys45Thr). Review of a biorepository of patients with unsolved genetic leukoencephalopathies who underwent whole-exome or genome sequencing allowed us to identify a second patient with compound heterozygous mutations in NDUFA2 (c.134A>C, p.Lys45Thr; c.225del, p.Asn76Metfs*4). Only 1 other patient with mutations in NDUFA2 and a different phenotype (Leigh syndrome) has previously been reported. This is the first report of cystic leukoencephalopathy caused by mutations in NDUFA2.

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy.

Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 gene that encodes lipin-1 revealed a novel homozygous frameshift mutation in exon 9, c.1381delC (p.Leu461SerfsX47), and complete uniparental isodisomy of maternal chromosome 2. This mutation is predicted to cause complete lipin-1 deficiency. The patient had six rhabdomyolytic crises, with creatine kinase (CK) levels up to 300,000 U/L (normal, 30 to 200). Plasma CK remained elevated between crises. A treatment protocol was instituted, with early aggressive monitoring, hydration, electrolyte replacement and high caloric, high carbohydrate intake. The patient received dexamethasone during two crises, which was well-tolerated and in these episodes, peak CK values were lower than in preceding episodes. Studies of anti-inflammatory therapy may be indicated in lipin-1 deficiency.

[Multiple organ failure and disseminated adenoviral infection]. / Défaillance multiviscérale et infection disséminée à adénovirus.

BACKGROUND: Peripheral blood stem cell transplantation is a frequent option, especially for patients with hematological malignancies. CASE REPORTS: A first patient received this treatment for acute myeloblastic leukemia, the second for Richter's syndrome (follicular lymphoma). In both cases, allograft (unrelated donor, non myeloablative conditioning) was followed by graft versus host disease (GVH) requiring an immunosuppressive treatment. Respectively 15 and three months after graft, these two patients presented with multiple organ failure including very severe hepatic dysfunction. The diagnosis was made according to positive blood PCR, positive BAL, and hepatic histological findings. DISCUSSION: Adenoviruses, frequent in pediatrics, can be responsible for extremely severe infections among immunocompromised adults. T lymphocyte depletion plays a key role. CONCLUSION: Adenoviral infections can be fatal among immunocompromised patients. Diagnostic improvement should lead to early treatment, which however, remains to be clearly defined.

[French nationwide survey about management of acute osteomyelitis in children]. / Enquête nationale sur la prise en charge des ostéomyélites aiguës de l'enfant.

PURPOSE: The outcome of acute osteomyelitis in children has been modified by the use of potent antibiotics. However, treatment management remains unclear. The aim of this study was to investigate the current management of acute osteomyelitis in children in France. PATIENTS AND METHODS: A questionnaire regarding the choice and the duration of antibiotics was sent to French pediatricians and pediatric orthopedists. RESULTS: Ninety-four centers answered the questionnaire: 72 pediatricians and 22 pediatric orthopedists. The response rate was 51% and the median number of children hospitalized per year for osteomyelitis was 4 in each center. The radiologic procedures most often used for diagnosis were X-rays (99%) and bone scintigraphy (82%). Two intravenous antibiotics schemes were used by 80% of centers: either an association of 3rd-generation cephalosporin plus fosfomycin or an association of penicillin M and aminoglycoside, followed by oral penicillin M or pristinamycin. Intravenous therapy lasted 7 to 14 days in 72% of the centers. The total duration of antibiotic therapy was 6 weeks for 55% of centers. In 83% of cases, immobilization was prescribed. The decision for treatment withdrawal was based on clinical, biological or empirical findings for 59, 75 and 60% of departments, respectively. CONCLUSION: In spite of controversies and lack of consensus, regarding both the diagnostic procedures and treatment management, 2 main antibiotic therapy schemes emerged from our survey. However, the treatment duration appeared more variable. Reaching a consensus for acute-osteomyelitis care in children remains a critical issue.

[Retroperitonal fibrosis and lymphoma in a 15-year-old boy]. / Fibrose rétropéritonéale et lymphome chez un enfant de 15ans.

Retroperitoneal fibrosis (RF) is a rare disease in children. We report the case of a 15-year-old boy who presented with a 2-month history of dorsal pain and a 2-week history of fever. The erythrocyte sedimentation rate and serum C-reactive protein value were high. Magnetic resonance imaging revealed a large heterogeneous retroperitoneal mass, suggestive of RF. Percutaneous biopsy of inguinal lymph node provided the diagnosis of anaplastic large cell lymphoma. This is the first report of RF revealing malignancy in childhood. It emphasizes that malignancy must be carefully searched for in children with unexplained RF.

[Hereditary spherocytosis: guidelines for the diagnosis and management in children]. / Sphérocytose héréditaire: recommandations pour le diagnostic et la prise en charge chez l'enfant.

Hereditary spherocytosis (HS) is the commonest inherited disorder of the erythrocyte membrane in Northern Europe and North America. It is marked by a regenerative anemia which varies widely from asymptomatic patients to severe hemolysis. In 75% of HS patients, inheritance is autosomal dominant. The diagnosis of HS is easily made when there are a family history, hemolytic anemia, reticulocytosis, spherocytes and increased hyperdense cells. Specialized testing to clarify the nature of membrane disorder is required when the film appearance is atypical without a positive family history, in the absence of a family history, in the newborn and before the splenectomy, to rule out the stomatocytosis which is contraindicated. The indication for splenectomy is dependent on the degree of anemia and its clinical manifestation.

[Transfusion-related acute lung injury]. / Oedème pulmonaire lésionnel aigu post-transfusionnel ou Trali.

OBJECTIVES: The transfusion-related acute lung injury frequency was for a long time underestimated since it lacked both a widely accepted clinical definition and a comprehensive etiologic description. Recent clinical and biological data have underlined its frequency and have allowed a better understanding of its mechanisms. CURRENT KNOWLEDGE AND KEY POINTS: Trali is an interstitial lung injury occurring within 6 hours after the beginning of a blood transfusion. This time relationship between blood injection and the occurrence of lung edema is sufficient for a positive diagnosis, if any other cause of interstitial lung edema have been excluded. The clinical definition relies on a desaturation of arterial blood associated to a lack of any cardiac failure or circulation overload. The link between transfusion and lung edema is not univocal and several categories of mechanisms have been discussed. At least 2 of them are well identified; the first one is an immune conflict, and the second one is an activation of neutrophils by injection of biological modifiers such as lipids or CD40 soluble ligand. Evidences exist for the occurrence of Trali only in predisposing condition that mostly consists of a preceding leucostase in lung capillaries. Trali is treated like other lung interstitial edema by oxygen therapy and mechanical ventilation. FUTURE PROJECTS: A better knowledge of Trali offers the opportunity of improving the understanding of the role of blood transfusion in lung edema occurring in complex situations and open the way for a better definition of at risk patient and at risk blood components.

Biological cost of fluoroquinolone resistance in Escherichia coli implicated in polyclonal infection.

Polyclonal Escherichia coli strains were isolated in a transplanted patient who experienced successive septic shocks. Fluoroquinolone susceptible and resistant strains were corresponding to different PFGE fragment profiles. The gyrA S83L mutation was associated with a reduction in biological fitness. Resistant strain was selected by a long-term single use of ofloxacin.

[Clinical aspects and management of patients with tuberculous meningitis. Retrospective analysis from 1994 to 2005]. / Aspects cliniques et prise en charge thérapeutique des méningites tuberculeuses. Analyse rétrospective de 15 cas observés de 1994 à 2005.

Tuberculous meningitis remains a devastating disease with poor prognosis in terms of mortality or invalidating after-effects. Eighteen cases of tuberculous meningitis, occurred between 1994 and 2005, were re-examined retrospectively. Among the 18 patients, 13 were aged from 14 to 64 years, and 5 were older than 64. There was no gender dominance. Factors of risk were identified in 7 patients. British Medical Research Council staging was III in 9 patients, II in 2 patients and I in 7 patients. Protein and glucose levels in the cerebrospinal fluid sample were very variable ranging from 0.4 to 10.7 g/L and 0.4 to 3.7 mmol/L respectively. The cellular reaction was also very variable ranging from 0 to 250 elements, mostly lymphocytes. Antituberculous treatment was given to 15 patients, associated with corticosteroid therapy for 9 patients. Among the 18 patients, 11 died within 1 year, 4 were treated for a recurrence occurring up to 6 years after the diagnosis, 1 presented important neuropsychic after-effects and 2 patients survived without after-effects with a time ranging between 6 months and 1 year. The deceased patients were significantly older than the others. The risk of mortality was 4.5-fold greater among stage III patients than among stage I and II patients. The use of corticosteroids significantly reduced the risk of death.

Infantile pyknocytosis: a cause of haemolytic anaemia of the newborn.

This study defined the incidence, clinical and haematological characteristics of infantile pyknocytosis in a monocentric retrospective study of 149 blood samples referred for unexplained neonatal haemolytic anaemia. Pyknocytosis was diagnosed in 14 patients (9.4%). All patients had neonatal jaundice and severe anaemia (mean nadir haemoglobin: 6.8 g/dl) at a mean age of 21 d. The percentage of pyknocytes was 4-23%. Packed red blood cell transfusions were needed in 11 of 14 patients. Haemoglobin levels reached normal values within a mean time of 4 months. Infantile pyknocytosis is an unusual cause of neonatal haemolytic anaemia, which requires careful examination of blood smears.

[Auto-immune hemolytic anemia and dyserythropoïesis as the presenting signs of Fas-deficient condition in 3 children]. / Anémie hémolytique auto-immune et dysérythropoïèse révélatrices d'un déficit de l'apoptose Fas chez 3 enfants.

Defective apoptosis caused by mutations of the Fas gene can lead to an autoimmune lymphoproliferative syndrome (ALPS). The main autoimmune manifestations are haematological: hemolytic anemia, thrombocytopenia and neutropenia. We described 3 patients with ALPS presenting as a lymphoproliferative syndrome associated with a Coomb's negative autoimmune hemolytic anemia and dyserythropoiesis predominating on the more mature erythroblasts. Fas apoptosis deficiency was evidenced in the 3 patients by the demonstration of an increased number of CD4(-)CD8(-)TCRalphabeta(+) T cells, a decreased apoptotic response of activated T lymphocytes to anti-Apo 1-3 monoclonal antibody and the presence of a heterozygous mutation of the Fas receptor gene.

[Plasma exchanges as treatment of severe acute immune thrombocytopenic purpura]. / Echanges plasmatiques dans les formes graves de purpura thrombopénique immunologique aigu.

INTRODUCTION: High dose steroids and intravenous immunoglobulins are the gold treatment of acute immune thrombocytopenic purpura, before splenectomy for severe and refractory forms of the disease. Authors report two cases of severe acute refractory immune thombocytopenia with a dramatic response to plasma exchanges. EXEGESIS: The first case was an idiopathic form, complicated by hemorragic peritoneal effusion. After failure of steroids, intravenous immunoglobulins and splenectomy and 2 courses of rituximab, plasmapheresis normalized in 3 days platelet count. In the second observation, ITP was associated to systemic lupus with antiphospholipids antibodies and multivisceral failure, despite steroids and intravenous immunoglobulins. After 3 plasma exchanges, platelet count was normalized, and the patient is under remission after 24 months follow-up. CONCLUSION: Plasmapheresis must be evaluated as an emergency treatment in refractory forms of acute immune thrombocytopenic purpura.

Evaluation of antioxidant properties of dermocosmetic creams by direct electrochemical measurements.

Cyclic voltammetry and linear sweep voltammetry were preliminarily used in order to evaluate the global antioxidant properties of dermocosmetic creams. Experiments were performed by introducing electrodes directly into the creams without any pretreatment of the samples. Current-potential curves showed significant anodic current depending on the antioxidant-containing cream studied. In comparison, little amperometric response was recorded with an antioxidant-free cream base. Aqueous solutions of the corresponding antioxidants showed analogous anodic waves and similar peak potentials. A correlation between the global anodic peak and the presence of the antioxidant species in the cream was made with eleven skin creams, attesting to the reliability of the method. Among the tested electrode materials, platinum gave the best results in terms of electrochemical kinetics and measurement precision (current peak standard deviation less than 5%). Exposure of a depilatory cream to oxidizing agents (e.g., hydrogen peroxide, air, or light) caused a decrease in peak current as expected. This methodology enabled us to evaluate the evolution of the total antioxidant capacity under oxidative stress and gives encouragement to further development of a voltammetric method to quantify cream antioxidant power.

[Diverticula of the appendix and their complications: value of sonography (review of 21 cases)]. / Les diverticules appendiculaires et leurs complications: apport de l'échographie (à propos de 21 cas).

PURPOSE: Diverticulosis is defined by the presence of diverticula along any segment of the GI tract. Diverticulosis and its associated complications may involve the appendix. The imaging and histological findings of 21 cases of diverticulitis of the appendix are reviewed. MATERIALS AND METHODS: Sonography, because of its high spatial resolution, is an ideal imaging technique to diagnose diverticulitis of the appendix. RESULTS: Similar to diverticulosis of the large bowel, diverticula of the appendix correspond to pseudo-diverticula composed of mucosa and sub mucosa herniating through the muscular layer. Chronic inflammatory changes affect the surrounding appendicular wall, as confirmed by histological examination. Clinical symptoms range from chronic right lower quadrant abdominal pain to acute appendicitis and even peritonitis. CONCLUSION: Based on this retrospective analysis of 21 cases, it is possible to describe the specific and sensitive imaging findings for diagnosis of simple and complicated forms of diverticulitis of the appendix. Surgery is the treatment of choice because of the high risk of perforation.