Denis Oriot

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

This paper reports the cosegregation in a three generation pedigree of dominantly inherited cataract with an abnormally high level of serum ferritin. In this family, circulating L ferritin was raised in all subjects affected by cataract independently of iron overload. We suggest that a disorder of ferritin metabolism could be a new genetic disorder leading to lens opacity. Cataract-hyperferritaemia syndrome could also be a new contiguous gene syndrome involving the L ferritin gene and the gene coding for the lens membrane protein (MP19), which both map to the same region of chromosome 19q.

SEVERE LACTIC ACIDOSIS RELATED TO ACUTE THIAMINE DEFICIENCY

The authors report a case of severe lactic acidosis in a 3-year-old boy, after 20 days of total parenteral nutrition without vitamin supplementation. This child with acute lymphoblastic leukemia underwent a period of severe refractory lactic acidosis (pH between 6.81 and 7.00 and a serum lactate level up to 38 mmol/liter) leading to cardiac arrest. After the initial resuscitation and the subsequent treatment of shock and vitamin K deficiency, acute peritoneal dialysis was instituted to correct the severe lactic acidosis. Initial low plasma thiamine levels confirmed the diagnosis of thiamine deficiency. An associated transient pancreatic dysfunction was also noted. The patients overall course with thiamine replacement therapy led to a complete recovery within 5 days and no sequelae were noted after 12 months.

The effect of multimodal stimulation and cutaneous application of vegetable oils on neonatal development in preterm infants: a randomized controlled trial.

BACKGROUND Preterm newborns admitted to the Neonatal Intensive Care Unit are deprived of sensory stimulation. Tactile/kinaesthetic stimulation results in weight gain. Studies involving the cutaneous application of vegetable oils have shown improvement in somatic growth and on skin barrier function. OBJECTIVE To assess the neurodevelopmental and biological benefits of the simultaneous use of multimodal stimulation (SMS) and the cutaneous application of vegetable oils. Setting Tertiary referral centre serving the Poitou-Charentes region of France. METHODS Randomized controlled trial of 49 low-risk preterm infants, born at 31- to 34-week gestation. Each infant was randomly assigned to one of three treatment groups, Sensori-Tonico-Motor (STM) touch for 10 days with either: sweet almond oil, ISIO4 blended oil, or placebo - normal saline, or to a control group who did not receive any intervention. The primary outcome was weight gain. Secondary outcomes were linear growth, neurological maturation, psychomotor development and number of days of admission. Analysis was by intention-to-treat. RESULTS The group who received STM with ISIO4 oil demonstrated enhanced weight gain (+57%, 95% CI 37-76) compared with controls (P = 0.030). All STM groups showed shorter admission times (mean reduction 15 days, 95% CI 23-50 days hospitalised, P = 0.005), and an increase in body length (P = 0.030). Both groups of oil massaged babies (almond and ISIO4) showed an increased neurological score (P = 0.001) compared to controls. The infants receiving ISIO4 oil had an associated increase in psychomotor scores (P = 0.028), time spent in quiet wakefulness (P = 0.036), improved orientation (P = 0.036), and enhanced development of the oculomotor (P = 0.012) and sensorimotor (P = 0.003) systems. An additional benefit seen was improved moisturization (P = 0.001), and quicker recovery of dermatological conditions. No adverse dermatological events were observed. CONCLUSIONS The combination of STM and cutaneous application of oils to healthy preterm babies resulted in enhanced weight gain and neurological development, and a shorter stay in hospital.

Aplasia cutis congenita of the scalp in an infant exposed to valproic acid in utero

We report a newborn with isolated aplasia cutis congenita of the scalp whose mother was treated with valproic acid during pregnancy. Aplasia cutis congenita has been described in infants exposed in utero to antithyroid drugs, but has not been related to other tetratogenic agents. Fetal exposure to valproic acid is known to increase the risks of spina bifida and other midline defects. Interestingly, aplasia cutis congenita of the scalp is regarded as a cutaneous marker for neural dysraphism. However, this defect of the scalp and valproic acid intake during pregnancy may be a random association and similar observations are needed to suggest causality.

Use of intra-osseous access in adults: a systematic review

BackgroundIndications for intra-osseous (IO) infusion are increasing in adults requiring administration of fluids and medications during initial resuscitation. However, this route is rarely used nowadays due to a lack of knowlegde and training. We reviewed the current evidence for its use in adults requiring resuscitative procedures, the contraindications of the technique, and modalities for catheter implementation and skill acquisition.MethodsA PubMed search for all articles published up to December 2015 was performed by using the terms “Intra-osseous” AND “Adult”. Additional articles were included by using the “related citations” feature of PubMed or checking references of selected articles. Editorials, comments and case reports were excluded. Abstracts of all the articles that the search yielded were independently screened for eligibility by two authors and included in the analysis after mutual consensus. In total, 84 full-text articles were reviewed and 49 of these were useful for answering the following question “when, how, and for which population should an IO infusion be used in adults” were selected to prepare independent drafts. Once this step had been completed, all authors met, reviewed the drafts together, resolved disagreements by consensus with all the authors, and decided on the final version.ResultsIO infusion should be implemented in all critical situations when peripheral venous access is not easily obtainable. Contraindications are few and complications are uncommon, most of the time bound to prolonged use. The IO infusion allows for blood sampling and administration of virtually all types of fluids and medications including vasopressors, with a bioavailability close to the intravenous route. Unfortunately, IO infusion remains underused in adults even though learning the technique is rapid and easy.ConclusionsIndications for IO infusion use in adults requiring urgent parenteral access and having difficult intravenous access are increasing. Physicians working in emergency departments or intensive care units should learn the procedures for catheter insertion and maintenance, the contraindications of the technique, and the possibilities this access offers.

Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.

X-linked centronuclear myopathy (XLMTM), also called myotubular myopathy, is a severe congenital myopathy characterized by generalized hypotonia and weakness at birth and the typical histological finding of centralization of myo-nuclei. It is caused by mutations in the MTM1 gene encoding the 3-phosphoinositides phosphatase myotubularin. Mutations in dynamin 2 and amphiphysin 2 genes lead to autosomal forms of centronuclear myopathy (CNM). While XLMTM is the most frequent and severe form of CNM, no mutations are found in about 30% of patients by sequencing all MTM1 exons. Moreover, the impact of MTM1 sequence variants is sometimes difficult to assess. It is thus important to devise a complete molecular diagnostic strategy that includes analysis of the myotubularin transcript and protein expression. We therefore developed novel antibodies against human myotubularin and showed that they are able to detect the endogenous protein by direct Western blot from muscle samples and from cultured cells. In conjunction with RT-PCR analysis we validated the consequences of missense and splice mutations on transcript integrity and protein level. We also detected and characterized a novel deep intronic mutation consisting of a single nucleotide change that induces exonisation of a conserved intronic sequence. Patients with centronuclear myopathy and no molecular diagnosis should be investigated for MTM1 defects at the cDNA and protein level.

Validation of a performance assessment scale for simulated intraosseous access.

Abstract We propose an intraosseous (IO) procedure scale for evaluating the insertion process during simulation. A 12-item scale for assessing the performance of IO insertion into the proximal tibia reproduces all the steps of a manual procedure. The performance of 31 emergency physicians was evaluated with this scale on a mannequin simulating a decompensated shock in a 6-month-old infant. Our IO procedure scale was reliable, with a very high interobserver reproducibility. The application of this scale to procedures yielded higher scores for successful than for unsuccessful procedures (P < 10−4), a 93.5% success rate, and a mean placement time of 2 minutes 23 seconds. Although designed for a manual insertion of an IO needle during simulation, this scale may be also suitable for use in clinical settings.

Percutaneous catheterization of the axillary vein in neonates.

Percutaneous catheterization of the axillary vein in low-birth weight neonates was performed successfully 217 times (226 attempts). In this report, the authors emphasize the facility of this method and its few complications compared to other methods of central venous catheterization.

Setting Conditions for Productive Debriefing

Background. Debriefing is a fundamental step in simulation, particularly in the medical field. Simulation sometimes even serves as a pretext for debriefing. Most often, debriefing takes place easily, producing a qualitative feedback and an optimal learning transfer. But sometimes, the facilitator faces difficulties. An unproductive debriefing can be described as follows: the debriefing of a clinical simulation session is unproductive when facilitators or learners perceive the occurrence of an obstacle that has hindered the learning process. Objectives & method. Considering the difficulties encountered in this type of debriefing, we believe it is necessary to investigate the topic in depth in order to bring out some theoretical principles. Based on a Nominal Group Technique involving the authors of this article, this project aimed at drawing up and proposing informed recommendations for ensuring productive debriefing in simulation-based education in healthcare. Results. The authors make the following recommendations: Reflect on your own performances as an instructor (asking for feedback from the learners and peers, and being appropriately trained as an instructor who can facilitate learning) Establish simulation ground rules (preparing and briefing the learners before the simulation experience, controlling the timing of the simulation session and the quality of the scenarios) Manage unexpected events and intended learning objectives by using a confederate during scenarios. Respect the steps of the debriefing process and good practice recommendations regarding learning psychology. Maintain the balance between emotion and teaching by decontextualizing the experience from the participants during the debriefing. Manage the input from the peers during the debriefing so they do not antagonise the learning process. Conclusion. Six key recommendations are proposed. They have been deemed as core skills required of every simulation facilitator to prepare for productive debriefing and so the set learning objectives of a simulation session can be achieved successfully.

Ascorbic acid during cerebral ischemia in newborn piglets

We measured ascorbic acid (reduced and oxidized) in brain, CSF and blood, before, during and after cerebral ischemia in newborn piglets. Bilateral carotid ligation induced a 54% decrease in cerebral blood flow (p < 0.01) and a 43% decrease in the cerebral metabolic rate of oxygen (p < 0.01). After ischemia and reperfusion, we obtained a 60% decrease (p < 0.01) in total brain ascorbic acid content. CSF ascorbic acid increased during reperfusion:+60% at 30min (p < 0.001) and +160% at 120min (p < 0.05). Blood ascorbic acid content did not change. These changes and the absence of massive oxidation of ascorbic acid in brain tissue suggest release of ascorbic acid by the brain during ischemia.