The phylogenomic and biogeographic history of the gartersnakes, watersnakes, and allies (Natricidae: Thamnophiini).

North American Thamnophiini (gartersnakes, watersnakes, brownsnakes, and swampsnakes) are an ecologically and phenotypically diverse temperate clade of snakes representing 61 species across 10 genera. In this study, we estimate phylogenetic trees using âˆ¼3,700 ultraconserved elements (UCEs) for 76 specimens representing 75% of all Thamnophiini species. We infer phylogenies using multispecies coalescent methods and time calibrate them using the fossil record. We also conducted ancestral area estimation to identify how major biogeographic boundaries in North America affect broadscale diversification in the group. While most nodes exhibited strong statistical support, analysis of concordant data across gene trees reveals substantial heterogeneity. Ancestral area estimation demonstrated that the genus Thamnophis was the only taxon in this subfamily to cross the Western Continental Divide, even as other taxa dispersed southward toward the tropics. Additionally, levels of gene tree discordance are overall higher in transition zones between bioregions, including the Rocky Mountains. Therefore, the Western Continental Divide may be a significant transition zone structuring the diversification of Thamnophiini during the Neogene and Pleistocene. Here we show that despite high levels of discordance across gene trees, we were able to infer a highly resolved and well-supported phylogeny for Thamnophiini, which allows us to understand broadscale patterns of diversity and biogeography.

COVID-19 in children and adolescents: MIS(-C)-taken diagnoses.

Multisystem inflammatory syndrome in children (MIS-C) is an inflammatory condition associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It is characterized by fever, gastro-intestinal symptoms, cardiovascular complications, conjunctivitis, skin involvement, elevated inflammatory markers, and coagulation abnormalities. The current ongoing COVID-19 pandemic causes an increased alertness to MIS-C. In combination with the heterogeneous clinical spectrum, this could potentially lead to diagnostic blindness, misdiagnosis of MIS-C, and overtreatment with expensive IVIG treatment. This report demonstrates the challenge of accurately distinguishing MIS-C from other more common inflammatory pediatric diseases, and the need to act with caution to avoid misdiagnoses in the current pandemic. We present a case series of 11 patients suspected of MIS-C based on the current definitions. Three of them were eventually diagnosed with a different disease. CONCLUSION: Current definitions and diagnostic criteria lack specificity which potentially leads to misdiagnosis and overtreatment of MIS-C. We emphasize the need to act with caution in order to avoid MIS(-C)-taken diagnoses in the current pandemic. WHAT IS KNOWN: • A pediatric multisystem inflammatory disease associated with SARS-CoV-2 has been described (MIS-C). • There are three definitions being used for MIS-C, all including fever for at least 24 h, laboratory evidence of inflammation, clinically severe illness with multi-organ (≥ 2) involvement, and no alternative plausible diagnosis. WHAT IS NEW: • MIS-C has a heterogeneous clinical spectrum without distinctive features compared to more common childhood diseases. Current definitions and diagnostic criteria for MIS-C lack specificity which leads to misdiagnosis and overtreatment. • Amid the current excessive attention to COVID-19 and MIS-C, pediatricians should remain vigilant to avoid mistaken diagnoses.

[How I explore... macrocephaly]. / Comment j'explore. Une macrocéphalie.

Macrocephaly is a frequent reason for seeking advice in a pediatric neurology consultation. It is a non-specific neurological sign that can be isolated, be the sign of a serious acquired pathology or be part of a syndromic picture. Clinical history, physical examination and imaging are key elements of the diagnostic strategy. Signs of intracranial hypertension require an emergency work-up. Genetics, exome in particular, has enabled the characterization of various syndromes associating macrocephaly and neurodevelopmental delay. In this article, we propose an update of practices based on clinical signs.

La macrocéphalie est un motif fréquent de demande d'avis en consultation de neuropédiatrie. Il s'agit d'un signe somatique peu spécifique et pouvant être isolé, être le signe d'une pathologie acquise grave ou faire partie d'un tableau syndromique. L'anamnèse, l'examen clinique et l'imagerie sont des éléments clés de la stratégie diagnostique. La découverte de signes d'hypertension intracrânienne implique une mise au point en urgence. La génétique, notamment la réalisation de l'exome, a permis la caractérisation de différents syndromes associant la macrocéphalie et des troubles du neurodéveloppement. Compte tenu des évolutions technologiques, une mise à jour des pratiques, basée sur la clinique, est proposée dans cet article.

[How I explore autism spectrum disorder in a child]. / Comment j'explore un trouble du spectre de l'autisme chez l'enfant.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental trouble characterized by deficits in communication and social interactions associated with restricted and repetitive behaviour, interests and activities. Given the heterogeneity of the disorder and the absence of biomarker, its diagnostic approach must be comprehensive and multidisciplinary, according to international classifications. The aetiology of ASDs remains mostly unknown and results from a multifactorial model. This document offers guidelines to standardize practices and optimize the exploration of children with autism.

Le trouble du spectre de l'autisme (TSA) est une pathologie neurodéveloppementale complexe, caractérisée par des déficits de la communication et des interactions sociales associés à un caractère restreint et répétitif des comportements, des intérêts et des activités. Etant donné le caractère très hétérogène du trouble et l'absence de biomarqueur, son approche diagnostique doit être globale, multidisciplinaire, et répondre aux critères des classifications internationales. Par ailleurs, les TSA résultent d'un modèle multifactoriel dont l'étiologie demeure inconnue dans la majorité des cas. Afin d'optimiser le rendement exploratoire et d'homogénéiser les pratiques, ce document propose un cadre pour la mise au point des TSA en pédiatrie.

An international multidisciplinary consensus statement on fasting before procedural sedation in adults and children.

The multidisciplinary International Committee for the Advancement of Procedural Sedation presents the first fasting and aspiration prevention recommendations specific to procedural sedation, based on an extensive review of the literature. These were developed using Delphi methodology and assessment of the robustness of the available evidence. The literature evidence is clear that fasting, as currently practiced, often substantially exceeds recommended time thresholds and has known adverse consequences, for example, irritability, dehydration and hypoglycaemia. Fasting does not guarantee an empty stomach, and there is no observed association between aspiration and compliance with common fasting guidelines. The probability of clinically important aspiration during procedural sedation is negligible. In the post-1984 literature there are no published reports of aspiration-associated mortality in children, no reports of death in healthy adults (ASA physical status 1 or 2) and just nine reported deaths in adults of ASA physical status 3 or above. Current concerns about aspiration are out of proportion to the actual risk. Given the lower observed frequency of aspiration and mortality than during general anaesthesia, and the theoretical basis for assuming a lesser risk, fasting strategies in procedural sedation can reasonably be less restrictive. We present a consensus-derived algorithm in which each patient is first risk-stratified during their pre-sedation assessment, using evidence-based factors relating to patient characteristics, comorbidities, the nature of the procedure and the nature of the anticipated sedation technique. Graded fasting precautions for liquids and solids are then recommended for elective procedures based upon this categorisation of negligible, mild or moderate aspiration risk. This consensus statement can serve as a resource to practitioners and policymakers who perform and oversee procedural sedation in patients of all ages, worldwide.

[How I explore a disorder of intellectual development in a child]. / Comment j'explore un trouble du développement intellectuel chez l'enfant.

Global developmental delay (GDD) and intellectual development disorder (IDD) are common but heterogeneous pediatric conditions. Guided by a rigorous clinical and anamnestic examination, the diagnostic approach is a dynamic process which is not limited to the intelligence quotient measurement. A large panel of paraclinical tests allows etiological exploration; this generally includes biological, genetic, metabolic and iconographic examinations. To maximize therapeutic efficiency and standardize practices, this document provides a guideline for the management of pediatric GDD/IDD.

Le retard global du développement (RGD) et le trouble du développement intellectuel (TDI) forment un groupe hétérogène de pathologies pédiatriques relativement fréquentes. Orientée par un examen clinique et anamnestique rigoureux, la démarche diagnostique est un processus dynamique qui ne se limite pas au quotient intellectuel. Son exploration étiologique est menée à travers un large panel d'examens paracliniques qui comprend généralement des examens biologiques, génétiques, métaboliques et iconographiques. Afin d'optimiser le rendement thérapeutique et d'homogénéiser les pratiques, ce document propose un cadre pour la mise au point des RGD/TDI en pédiatrie.

[A somatic disease causing a child psychiatric disorder]. / Comment j'explore une pathologie organique à l'origine d'un trouble pédopsychiatrique.

Psychiatric disorders in children may be the expression of underlying organic conditions. These are numerous and varied. The clinical presentation is often frustrating : psychiatric signs can remain isolated for years before other more specific organic signs appear. More recently, new treatments have been developed, making it possible to improve the prognosis of some of these organic diseases; screening them is therefore a daily concern for the child psychiatrist. This literature review discusses various paediatric treatable organic disorders that may have an isolated psychiatric presentation, to finally propose a decision tree algorithm based on somatic and psychiatric complaints reported.

Les troubles psychiatriques chez l'enfant peuvent être l'expression d'affections organiques sous-jacentes. Celles-ci sont nombreuses et variées avec une expression clinique souvent fruste, les signes psychiatriques pouvant rester isolés pendant des années avant que d'autres signes organiques plus spécifiques n'apparaissent. Plus récemment, de nouveaux traitements ont été développés, permettant d'améliorer le pronostic de certaines de ces maladies organiques; le dépistage de celles-ci constitue, dès lors, une préoccupation quotidienne pour le pédopsychiatre. Cette revue de littérature discute des différentes affections organiques traitables chez l'enfant pouvant avoir une présentation psychiatrique isolée. Elle propose, par la suite, un algorithme décisionnel orienté en fonction des plaintes somatiques et psychiatriques rapportées.

[Periventricular nodular heterotopia : a pediatric case]. / L'hétérotopie nodulaire périventriculaire. Un cas pédiatrique.

Periventricular nodular heterotopia (PVNH) is a cerebral cortex malformation, due to a deletion/duplication in the FLNA gene, located on the chromosome X. The gene is coding a cytoskeleton protein. The transmission is dominant. It enters the heterogeneous group of philaminopathies. There is a feminine predominance. Males most often show early lethality. The clinical presentation is characterised by a seizure disorder ranging from mild to intractable, a mental retardation, hypotonia, cardiovascular abnormalities, vasculopathy and/or coagulopathy leading to stroke. The surveillance must be made by a pluridisciplinary team and the genetic counseling is necessary. We present here a paediatric case.

L'hétérotopie nodulaire périventriculaire classique (HNP) est une malformation du cortex cérébral, liée à des mutations du gène FLNA, localisé sur le chromosome X et codant une protéine du cytosquelette. La transmission est dominante. Elle fait partie d'un groupe hétérogène de pathologies : les filaminopathies. Il y a une prédominance féminine et une létalité précoce chez le garçon. Le tableau clinique est caractérisé par une épilepsie de sévérité variable, un retard psychomoteur global et un risque élevé de maladies cardiovasculaires, accident vasculaire cérébral et autres problèmes vasculaires et/ou de la coagulation. La prise en charge est généralement pluridisciplinaire. Un conseil génétique est fortement recommandé. Nous décrivons ici un cas pédiatrique.

Tracking and Reporting Outcomes Of Procedural Sedation (TROOPS): Standardized Quality Improvement and Research Tools from the International Committee for the Advancement of Procedural Sedation.

Many hospitals, and medical and dental clinics and offices, routinely monitor their procedural-sedation practices-tracking adverse events, outcomes, and efficacy in order to optimize the sedation delivery and practice. Currently, there exist substantial differences between settings in the content, collection, definition, and interpretation of such sedation outcomes, with resulting widespread reporting variation. With the objective of reducing such disparities, the International Committee for the Advancement of Procedural Sedation has herein developed a multidisciplinary, consensus-based, standardized tool intended to be applicable for all types of sedation providers in all locations worldwide. This tool is amenable for inclusion in either a paper or an electronic medical record. An additional, parallel research tool is presented to promote consistency and standardized data collection for procedural-sedation investigations.

Multiscale prediction of acoustic properties for glass wools: Computational study and experimental validation.

This work is concerned with the multiscale prediction of the transport and sound absorption properties associated with industrial glass wool samples. In the first step, an experimental characterization is performed on various products using optical granulometry and porosity measurements. A morphological analysis, based on scanning electron imaging, is further conducted to identify the probability density functions associated with the fiber angular orientation. The key morphological characterization parameters of the microstructure, which serve as input parameters of the model, include the porosity, the weighted volume diameter accounting for both lengths and diameters of the analyzed fibers (and therefore the specific surface area of the random fibrous material), and the preferred out-of-plane fiber orientation generated by the manufacturing process. A computational framework is subsequently proposed and allows for the reconstruction of an equivalent fibrous network. A fully stochastic microstructural model, parameterized by the probability laws inferred from the database, is also proposed herein. Multiscale simulations are carried out to estimate transport properties and sound absorption. With no adjustable parameter, the results accounting for ten different samples obtained with various processing parameters are finally compared with the experimental data and used to assess the relevance of the reconstruction procedures and the multiscale computations.

Oxidative stress enhances and modulates protein S-nitrosation in smooth muscle cells exposed to S-nitrosoglutathione.

Among S-nitrosothiols showing reversible binding between NO and -SH group, S-nitrosoglutathione (GSNO) represents potential therapeutics to treat cardiovascular diseases (CVD) associated with reduced nitric oxide (NO) availability. It also induces S-nitrosation of proteins, responsible for the main endogenous storage form of NO. Although oxidative stress parallels CVD development, little is known on the ability of GSNO to restore NO supply and storage in vascular tissues under oxidative stress conditions. Aortic rat smooth muscle cells (SMC) were stressed in vitro with a free radical generator (2,2'-azobis(2-amidinopropane) dihydrochloride, AAPH). The cellular thiol redox status was reflected through levels of reduced glutathione and protein sulfhydryl (SH) groups. The ability of GSNO to deliver NO to SMC and to induce protein S-nitrosation (investigated via mass spectrometry, MS), as well as the implication of two redox enzymes involved in GSNO metabolism (activity of gamma-glutamyltransferase, GGT, and expression of protein disulfide isomerase, PDI) were evaluated. Oxidative stress decreased both intracellular glutathione and protein -SH groups (53% and 32% respectively) and caused a 3.5-fold decrease of GGT activity, while PDI expression at the plasma membrane was 1.7-fold increased without any effect on extracellular GSNO catabolism. Addition of GSNO (50 µM) increased protein -SH groups and protein S-nitrosation (50%). Mass spectrometry analysis revealed a higher number of S-nitrosated proteins under oxidative stress (83 proteins, vs 68 in basal conditions) including a higher number of cytoskeletal proteins (15, vs 9 in basal conditions) related with cell contraction, morphogenesis and movement. Furthermore, proteins belonging to additional protein classes (cell adhesion, transfer/carrier, and transporter proteins) were S-nitrosated under oxidative stress. In conclusion, higher levels of GSNO-dependent S-nitrosation of proteins from the cytoskeleton and the contractile machinery were identified under oxidative stress conditions. The findings may prompt the identification of suitable biomarkers for the appraisal of GSNO bioactivity in the CVD treatment.

Phylogenetics of Kingsnakes, Lampropeltis getula Complex (Serpentes: Colubridae), in Eastern North America.

Kingsnakes of the Lampropeltis getula complex range throughout much of temperate and subtropical North America. Studies over the last century have used morphology and color pattern to describe numerous subspecies. More recently, DNA analyses have made invaluable contributions to our understanding of their evolution and taxonomy. We use genetic and ecological methods to test previous hypotheses of distinct evolutionary lineages by examining 66 total snakes and 1) analyzing phylogeographic structure using 2 mtDNA loci and 1 nuclear locus, 2) estimating divergence dates and historical demography among lineages in a Bayesian coalescent framework, and 3) applying ecological niche modeling (ENM). Our molecular data and ENMs illustrate that 3 previously recognized subspecies in the eastern United States comprise well-supported monophyletic lineages that diverged during the Pleistocene. The geographic boundaries of these 3 lineages correspond closely to known biogeographic barriers (Florida peninsula, Appalachian Mountains, and Apalachicola River) previously identified for other plants and animals, indicating shared geographic influences on evolutionary history. We conclude that genetic, ecological, and morphological data support recognition of these 3 lineages as distinct species (Lampropeltis floridana, Lampropeltis getula, and Lampropeltis meansi).

LR12-peptide quantitation in whole blood by RP-HPLC and intrinsic fluorescence detection: Validation and pharmacokinetic study.

A simple, sensitive, selective and robust HPLC method based on intrinsic fluorescence detection was developed for the quantitation of a dodecapeptide (designated as LR12), inhibitor of Triggering Receptor Expressed on Myeloid cells-1, in rat whole blood. Sample treatment was optimized using protein precipitation and solid-phase extraction. Chromatographic separation was carried out in a gradient mode using a core-shell C18 column (150 × 4.6 mm, 3.6 µm) with mobile phases of acetonitrile and water containing trifluoroacetic acid at 1.0 mL/min. The method was validated using methodology described by the US Food and Drug Administration guidelines for bioanalytical methods. Linearity was demonstrated within the 50-500 ng/mL range and the lower limit of quantitation was 50 ng/mL. Finally, a preliminary pharmacokinetic study after intraperitoneal injection of LR12 in rats was conducted to evaluate both LR12 monomer and its corresponding disulfide dimer, the main product of degradation. Beyond the fact that this paper describes the first fully validated method for LR12 analysis in blood samples, the approach followed here to optimize pre-analytical steps could be beneficial to develop HPLC and/or MS methods for other pharmaceutical peptides.

Assessing the diversity of preferences of suburban smallholder sheep keepers for breeding rams in Ouagadougou, Burkina Faso.

Urbanisation in developing countries entails deep changes in the livestock sector and the management of animal genetic resources (AnGR). Sheep breeding around Ouagadougou (Burkina Faso) illustrates these changes and the need to coordinate genetic improvement in general and the use of crossbreeding in particular. For this, it is important to understand breeders' choices and improvement strategy, to accompany them within a national plan for AnGR management. In a context of missing market for breeding rams, a stated choice experiment was conducted with 137 farmers, together with a characterisation of herd management practices. This survey analyses farmers' preferences for breeding rams, estimating their willingness to pay (WTP) for different traits (attributes). Their practices were characterised by a high reliance on natural pastures (82% of farmers) and a minority of crossbreeding (23%). The highest WTP was observed for disease resistance. However, the subgroup of farmers practicing crossbreeding showed a tolerance to high susceptibility. A strong preference for the white colour was revealed. Although significant, the influence of sheep body size on decision-making showed a lesser importance, again with a distinct behaviour in the subgroup practicing crossbreeding. These results illustrate the need to take account of the diversity of goals and preferences among smallholder sheep keepers to gain their adhesion to a coordinated genetic improvement framework.

Comparison of milk fatty acid profiles measured on Kouri cows near Lake Chad and on dairy cattle as reported by meta-analytical data.

Kouri (Bos taurus) is a breed aboriginal from Lake Chad and threatened with extinction. This study aimed to compare milk fatty acid profiles measured on Kouri cows and on high-yielding dairy cattle in Europe and elsewhere as reported by meta-analytical data (22 experimentations). Milk samples were collected from 14 Kouri dairy cows in dry season (March to June) and fatty acids (FA) were determined by gas chromatography. Overall, 32 FA have been identified. Kouri showed lower values (P < 0.001) in the sum of saturated FA (SFA, -10.9 pts), cis-9, cis-12 18:2 (-1.00 pt) (P < 0.01, higher values (P < 0.001) in the sum of monounsaturated FA (MUFA, +15.3 pts), C18:0) (+3.5 pts), cis-9, trans-11 C18:2-CLA (+1.00 pts), trans-11 18:1 (+1.4 pts) and (P < 0.01) in cis-9, C18:1 (+3.00 pts) acids. The differences between the milk FA profile of the Kouri cows and that obtained from meta-analytical data could be the possible consequence of the use of particular lake pastures by Kouri cows.

Pliocene-Pleistocene lineage diversifications in the Eastern Indigo Snake (Drymarchon couperi) in the Southeastern United States.

Indigo Snakes (Drymarchon; with five currently recognized species) occur from northern Argentina, northward to the United States in southern Texas and eastward in disjunct populations in Florida and Georgia. Based on this known allopatry and a difference in supralabial morphology the two United States taxa previously considered as subspecies within D. corais (Boie 1827), the Western Indigo Snake, D. melanurus erebennus (Cope 1860), and Eastern Indigo Snake, D. couperi (Holbrook 1842), are currently recognized as separate species. Drymarchon couperi is a Federally-designated Threatened species by the United States Fish and Wildlife Service under the Endangered Species Act, and currently being incorporated into a translocation program. This, combined with its disjunct distribution makes it a prime candidate for studying speciation and genetic divergence. In this study, we (1) test the hypothesis that D. m. erebennus and D. couperi are distinct lineages by analyzing 2411 base pairs (bp) of two mitochondrial (mtDNA) loci and one single copy nuclear (scnDNA) locus; (2) estimate the timing of speciation using a relaxed phylogenetics method to determine if Milankovitch cycles during the Pleistocene might have had an influence on lineage diversifications; (3) examine historical population demography to determine if identified lineages have undergone population declines, expansions, or remained stable during the most recent Milankovitch cycles; and (4) use this information to assist in an effective and scientifically sound translocation program. Our molecular data support the initial hypothesis that D. melanurus and D. couperi should be recognized as distinct species, but further illustrate that D. couperi is split into two distinct genetic lineages that correspond to historical biogeography and sea level changes in peninsular Florida. These two well-supported genetic lineages (herein termed Atlantic and Gulf lineages) illustrate a common biogeographic distributional break previously identified for other plants and animals, suggesting that these organisms might have shared a common evolutionary history related to historic sea level changes caused by Milankovitch cycles. Our estimated divergence times suggest that the most recent common ancestor (MRCA) between D. melanurus and southeastern United States Drymarchon occurred ca. 5.9Ma (95% HPD=2.5-9.8Ma; during the late Blancan of the Pleistocene through the Hemphillian of the Miocene), whereas the MRCA between the Atlantic and Gulf lineages in the southeastern United States occurred ca. 2.0Ma (95% HPD=0.7-3.7Ma; during the Irvingtonian of the Pleistocene through the Blancan of the Pliocene). During one or more glacial intervals within these times, these two lineages must have become separated and evolved independently. Despite numerous Milankovitch cycles along with associated forming of physical barriers (i.e., sea level fluctuations, high elevation sand ridges, clayey soils, and/or insufficient habitats) since their initial lineage diversification, these two lineages have likely come in and out of contact with each other many times, yet today they still illustrate near discrete geographic distributions. Although the Atlantic and Gulf lineages appear to be cryptic, a thorough study examining morphological characters should be conducted. We believe that our molecular data is crucial and should be incorporated in making conscious decisions in the management of a translocation program. We suggest that source populations for translocations include maintaining the integrity of the known genetic lineages found herein, as well as those coming from the closest areas that currently support sizable Drymarchon populations.

Haplotype divergence and multiple candidate genes at Rphq2, a partial resistance QTL of barley to Puccinia hordei.

KEY MESSAGE: Rphq2, a minor gene for partial resistance to Puccinia hordei , was physically mapped in a 188 kbp introgression with suppressed recombination between haplotypes of rphq2 and Rphq2 barley cultivars. ABSTRACT: Partial and non-host resistances to rust fungi in barley (Hordeum vulgare) may be based on pathogen-associated molecular pattern (PAMP)-triggered immunity. Understanding partial resistance may help to understand non-host resistance, and vice versa. We constructed two non-gridded BAC libraries from cultivar Vada and line SusPtrit. Vada is immune to non-adapted Puccinia rust fungi, and partially resistant to P. hordei. SusPtrit is susceptible to several non-adapted rust fungi, and has been used for mapping QTLs for non-host and partial resistance. The BAC libraries help to identify genes determining the natural variation for partial and non-host resistances of barley to rust fungi. A major-effect QTL, Rphq2, for partial resistance to P. hordei was mapped in a complete Vada and an incomplete SusPtrit contig. The physical distance between the markers flanking Rphq2 was 195 Kbp in Vada and at least 226 Kbp in SusPtrit. This marker interval was predicted to contain 12 genes in either accession, of which only five genes were in common. The haplotypes represented by Vada and SusPtrit were found in 57 and 43%, respectively, of a 194 barley accessions panel. The lack of homology between the two haplotypes probably explains the suppression of recombination in the Rphq2 area and limit further genetic resolution in fine mapping. The possible candidate genes for Rphq2 encode peroxidases, kinases and a member of seven-in-absentia protein family. This result suggests that Rphq2 does not belong to the NB-LRR gene family and does not resemble any of the partial resistance genes cloned previously.

[Hydrogen sulfide: A promising therapy in neuroprotection following cardiac arrest?]. / Le sulfure d'hydrogène : une thérapeutique d'avenir dans la neuroprotection post-arrêt cardiorespiratoire ?

Each year, in France, the number of cardiac arrests is evaluated between 30,000 to 50,000. When a patient survives, he undergoes a post-resuscitation syndrome which can aggravate the injuries and for which nowadays, no medication is available. In some kinds of cardiac arrest, a hypothermia protocol can be applied with a need for monitoring because of the appearance of side effects. In this context, hydrogen sulfide, which is a gasotransmitter with numerous physiological and pharmacological properties, may be interesting. Indeed, its use could protect against oxidative, inflammatory and apoptotic troubles induced by the post-resuscitation syndrome. The implied biochemical mechanisms are adenosine triphosphate potassium channels activation and cytochrome c oxidase inhibition. This molecule can also induce a suspended animation state characterized by a metabolism decrease, which could give a delay for physicians to start a therapeutic monitoring. Thus, in spite of a modest and sometimes contradictory literature, this compound could become the first neuroprotective molecule in cardiac arrest.

[Perioral myoclonia syndrome with absences: about 2 cases]. / Le syndrome des myoclonies péribuccales avec absences: a propos de 2 cas.

Perioral myoclonia with absences (POMA) was first described in 1994 by CP Panayotopoulos who identified 6 cases that did not fit with the classical syndrome of absence epilepsy in children and whose predominant symptom during the absence seizure was the occurrence of myoclonia of perioral muscles. The POMA belongs to the group of generalized idiopathic epilepsies. It begins in childhood and there is a female predominance. It may be accompanied by tonic-clonic generalized seizures as well as absence status epilepticus. It has the EEG characteristics of typical absence seizures and therefore remains currently considered as such. The clinical manifestations of POMA are often misdiagnosed as focal motor seizures. This syndrome can be pharmacoresistant and is not likely to regress spontaneously. We present two clinical observations of perioral myoclonia with absences. The first case illustrates the typical electro-clinical features of this syndrome while the second illustrates its pharmacoresistance.

[Atypical clinical presentation of a neuroblastoma in an infant]. / Présentation clinique atypique d'un neuroblastome chez un nourrisson.

A babygirl, aged six weeks, was hospitalized for rectal prolapse and isolated constipation. The investigation revealed a neuroblastoma (NB) inducing a medullar compression responsible for the sphincter disorders. NB is second among pediatric solid tumors, but is the most frequent cancer among infants. Its diagnosis is difficult because of its rarity and the variety of its symptoms. A new staging, based on imaging, has recently been proposed by the International Neuroblastoma Risk Group. With the exception of its localized, easily resectable forms, NB is best treated by chemotherapy.