La cytostéatonécrose du nouveau-né: à propos de deux observations

La cytostéatonécrose est une lésion de survenue rare dont la pathogénie est incomplètement connue. Elle se présente sous la forme de placards cutanés indurés et violacés sur peau claire ou hyperchromiques sur peau  noire, localisés souvent au niveau de la face, du tronc, des fesses et de la racine des membres. Probablement due à une anomalie des tissus graisseux: trouble du métabolisme des graisses avec excès de graisses  saturées dans le tissu sous-cutané, hypoxie par souffrance néonatale ou hypothermie favorisant la  cristallisation des graisses saturées et la nécrose graisseuse. L'évolution de la cytostéatonécrose est en règle bénigne. Mais certaines complications (l'hypocalcémie et les troubles métaboliques) peuvent survenir et engendrer le pronostic vital. Nous rapportons deux cas de cytostéatonécrose néonatale néonatale précoce dans le but est de décrire cette symptomatologie et de préciser l'évolution des lésions à moyen terme.Key words: Cytostéatonécrose, Nouveau-né, Hypercalcémie, Néphrocalcinos

Syndrome d’Allgrove découvert sur une anémie ferriprive chez un enfant de 3 ans

Nous rapportons l'observation d'un enfant de 03 ans, qui s'est présenté en consultation pour une anémie   hypochrome microcytaire ferriprive traînante 18 mois auparavant, et qui a été mis sous traitement   symptomatique (fer) mal suivi en ambulatoire. Au cours de l'examen clinique, nous avons découvert une  pigmentation péri buccale, de la face dorsale des mains, des plis de flexion palmaires, des organes  génitaux  externes, des pieds, ainsi que des macules pigmentées au niveau des deux jambes, apparue 6 mois  auparavant et passée inaperçue. Devant ce tableau clinique, un bilan biologique a montré des hypoglycémies,  un taux de Cortisol de 8 heures du matin effondré, un taux de Rénine bas, un taux d'ACTH élevé, un test au  Synacthène® négatif, ce qui nous a permis d'évoquer une insuffisance surrénalienne. Un bilan étiologique a été réalisé dont un bilan immunologique avec un dosage de la 17 hydroxy-progestérone, des anticorps anti 21   hydroxylase, des anticorps anti-thyroglobuline et des acides gras à très longues chaines, et qui est revenu normal. Le bilan infectieux et radiologique a été normal. Une alacrymie a été suspectée et alors confirmée par un test de Schirmer positif, ce qui rentre dans le cadre d'une forme incomplète du syndrome d'Allgrove ou  syndrome des 3A fait habituellement d'anémie, d'insuffisance surrénalienne et d'achalasie (inconstante).Key words: anémie, Insuffisance surrénale, alacrymie, Syndrome d´Allgrove, mélanodermie, hypoglycémi

Hémophilie: état des lieux dans un service de pédiatrie dans la région de l’oriental du Maroc

Pour les pays en voie de développement, l'hémophilie continue d'être une maladie de conséquence  médicale et sociale désastreuse. Le but de ce travail est d'analyser le suivi d'une cohorte de patients  hémophiles. Patients et méthodes : étude prospective étalée sur deux années et menée au centre  référent d'hémophilie dans la région de l'orient du Maroc. Ont été inclus tous les patients présentant une hémophilie confirmée et âgé de moins de 18 ans. Résultats: sur 16 hémophiles, Quinze patients   présentait une hémophilie A, l'âge moyen des patients était de 6,18 ans, la forme sévère, représentait 20,7%, la forme modérée: 33,3% et la forme mineure: 40%.Les circonstances de découverte étaient post circoncisionnelle chez 53,3% des patients, 20,7% post traumatique, 20% à l'âge de la marche; la durée d'évolution variait entre 2 mois et 10 ans. L'hémarthrose a été décrite au niveau des genoux, coudes et chevilles, avec une moyenne allant de 2 à 5 fois par an ; l'arthropathie a été remarquée dans 33,3%. Le bilan immunologique a révélé des facteurs circulant inhibant chez deux patients. Le traitement était à base d'antalgiques, de plasma frais congelé.  L'administration de facteurs VIII recombinés a été instaurée chez 40,6% des patients (plus de 90% des formes modérées et graves), grâce au programme national de prise en charge des hémophiles. Le décès était noté dans un seul cas lié à une hémorragie cérébrale. Conclusion : nous insistons sur l'intérêt du programme national de prise en charge des hémophiles dernièrement instauré qui pourrait améliorer les conditions de vie de ces enfants.Key words: hémophilie A et B, arthropathie, facteur antihémophilique, programme de sant

Déficit congénital en facteur VII de coagulation: à propos de deux cas familiaux

Le déficit en facteur VII est rare, sa prévalence est estimée à 1/1.000.000. Sa transmission est autosomique récessive. L'expression peut aller de la simple épistaxis à l'hémorragie cérébrale. Le but de notre travail est de mettre l'accent sur les particularités cliniques et l'intérêt du dépistage de ce rare déficit. Nous rapportons deux observations de deux frères porteurs de ce déficit. Il s'agit d'un enfant âgé de 8 ans, issu d'un mariage non consanguin, benjamin d'une fratrie de deux, dans ses antécédents on note une hémorragie post circoncisionnelle, admis au service pour prise en charge d'épistaxis à répétition depuis l'âge de 4ans. Un bilan d'hémostase a été réalisé objectivant un taux de prothrombine (TP) bas, un temps de céphaline activée (TCA) normal et le dosage factoriel a révélé un déficit en facteur VII avec un taux à 26%. L'évolution est marquée par des transfusions espacées du plasma frais congelé (PFC) suite à des épistaxis et des plaies. Le dépistage familial n'a pas été réalisé. Son frère ainé, consulte à l'âge de 11 ans pour épistaxis de grande abondance, l'examen somatique a été sans particularité. Vu ses antécédents le patient a bénéficié d'un bilan avec dosage du facteur VII révélant un taux à: 55%, et un dépistage chez les parents est prévu. La découverte d'un cas doit motiver à mener une enquête familiale afin de dépister d'autres porteurs de ce déficit et avoir un conseil génétique qui aidera à éviter des manifestations graves voir mortelles tout en sachant que les études n'ont pas montré de corrélation entre le taux du facteur et la gravité du tableau

Morocco’s First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges

Background. Biobanks are highly organized infrastructures that allow the storage of human biological specimens associated with donors’ personal and clinical data. These infrastructures play a key role in the development of translational medical research. In this context, we launched, in November 2015, the first biobank in Morocco (BRO Biobank) in order to promote biomedical research and provide opportunities to include Moroccan and North African ethnic groups in international biomedical studies. Here, we present the setup and the sample characteristics of BRO Biobank. Methods. Patients were recruited at several departments of two major health-care centers in the city of Oujda. Healthy donors were enrolled during blood donation campaigns all over Eastern Morocco. From each participant, personal, clinical, and biomedical data were collected, and several biospecimens were stored. Standard operating procedures have been established in accordance with international guidelines on human biobanks. Results. Between November 2015 and July 2020, 2446 participants were recruited into the BRO Biobank, of whom 2013 were healthy donors, and 433 were patients. For healthy donors, the median age was 35 years with a range between 18 and 65 years and the consanguinity rate was 28.96%. For patients, the median age was 11 years with a range between 1 day and 83 years. Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. The BRO Biobank has collected 5092 biospecimens, including blood, white blood cells, plasma, serum, urine, frozen tissue, FFPE tissue, and nucleic acids. A sample quality control has been implemented and suggested that samples of the BRO Biobank are of high quality and therefore suitable for high-throughput nucleic acid analysis. Conclusions. The BRO Biobank is the largest sample collection in Morocco, and it is ready to provide samples to national and international research projects. Therefore, the BRO Biobank is a valuable resource for advancing translational medical research

Adapting Landscape Mosaics of medIteranean Rainfed Agrosystems for a sustainable management of crop production, water and soil resources: the ALMIRA project

International audienceWater erosion of cultivated soils is a threat to the sustainability of agriculture, especially in Mediterranean areas. For a long time, Mediterranean farmers have thus adopted some soil conservation practices. Actual ditch networks, which are generally associated with terraces, result from historical successive farmer settlements and are one of these soil conservation practices. By intercepting surface run-off, ditches decrease slope length and prevent soil erosion on downstream plots. However, since water erosion hazard and ditch network geometries are highly variable in vineyards landscape and since ditch building and maintaining are costly, the objective of this study was to identify and map the resulting efficiency of ditch networks in preventing soil erosion. For a given area, a ditch network efficiency is defined here as the balance between the network density, i.e. network cumulated length for a given area unit, and the erosion sensitivity over an area which measures the performance of the ditch network in limiting soil erosion. The erosion efficiency of ditch networks was thus identified using both i) computer generated ditch networks with various spatial configurations and ii) the stream power index as an erosion sensitivity indicator, computed from a DTM in which each ditch network was burned. The stream power index of the actual networks were compared with a set of generated networks whose density and topology were selected to maximize the performance in preventing soil erosion thanks to the use of a self-developed optimized stochastic network generator. For four 1 km2 hillslopes, we showed that the performances of actual networks to prevent soil erosion was among the best that were obtained by simulated networks with even greater densities. Furthermore, we showed that the stream power index values that accounted for the actual ditch networks to prevent soil erosion hazard was both minimal and weakly variable in the whole study area (30 km2 ) at hillslope scale, whatever the other erosion factors, namely topography and landuse. This suggested that densities and topologies of actual ditch networks in the catchment have been optimized by farmers through individual acts along the last centuries in order to limit the soil erosion hazard. This also confirms there is very little room to propose new ditch network spatial configurations that better prevent vineyards soil erosion

Adapting Landscape Mosaics of medIteranean Rainfed Agrosystems for a sustainable management of crop production, water and soil resources: the ALMIRA project

International audienceWater erosion of cultivated soils is a threat to the sustainability of agriculture, especially in Mediterranean areas. For a long time, Mediterranean farmers have thus adopted some soil conservation practices. Actual ditch networks, which are generally associated with terraces, result from historical successive farmer settlements and are one of these soil conservation practices. By intercepting surface run-off, ditches decrease slope length and prevent soil erosion on downstream plots. However, since water erosion hazard and ditch network geometries are highly variable in vineyards landscape and since ditch building and maintaining are costly, the objective of this study was to identify and map the resulting efficiency of ditch networks in preventing soil erosion. For a given area, a ditch network efficiency is defined here as the balance between the network density, i.e. network cumulated length for a given area unit, and the erosion sensitivity over an area which measures the performance of the ditch network in limiting soil erosion. The erosion efficiency of ditch networks was thus identified using both i) computer generated ditch networks with various spatial configurations and ii) the stream power index as an erosion sensitivity indicator, computed from a DTM in which each ditch network was burned. The stream power index of the actual networks were compared with a set of generated networks whose density and topology were selected to maximize the performance in preventing soil erosion thanks to the use of a self-developed optimized stochastic network generator. For four 1 km2 hillslopes, we showed that the performances of actual networks to prevent soil erosion was among the best that were obtained by simulated networks with even greater densities. Furthermore, we showed that the stream power index values that accounted for the actual ditch networks to prevent soil erosion hazard was both minimal and weakly variable in the whole study area (30 km2 ) at hillslope scale, whatever the other erosion factors, namely topography and landuse. This suggested that densities and topologies of actual ditch networks in the catchment have been optimized by farmers through individual acts along the last centuries in order to limit the soil erosion hazard. This also confirms there is very little room to propose new ditch network spatial configurations that better prevent vineyards soil erosion

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. METHODS: By international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro. RESULTS: In accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well. CONCLUSION: By identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

PURPOSE Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy (DEE) with early-onset seizures and severe intellectual disability. METHODS By international collaboration we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders (NDDs). By western blotting we investigated the consequences of missense variants in vitro. RESULTS In accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe DEE in 16 individuals. We now identified also de novo missense variants in the GTPase domain in six individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences.Furthermore, we observed bi-allelic splice-site and truncating variants in nine families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well. CONCLUSION By identifying phenotype-genotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying bi-allelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2 related disorders including both autosomal dominant and recessive NDDs