Les cellulites orbitaires: étude prospective à propos de 75 cas

Les cellulites orbitaires est une affection grave par ses complications aussi bien locales, locorégionales  que générales, pouvant engager le pronostic vital et fonctionnel, surtout lorsque le diagnostic est tardif et la prise en charge inappropriée. Le but de cette étude est de décrire les aspects épidémiologiques,  cliniques, thérapeutiques et évolutifs des cellulites orbitaires et d'insister sur la nécessité d'un diagnostic et d'un traitement précoces, afin d'éviter ses complications. Il s'agit d'une étude prospective concernent 75 patients présentant une cellulite orbitaire, menée au service d'Ophtalmologie et d'ORL au CHU Mohammed VI de Marrakech, de Septembre 2010 au Avril 2014. L'âge moyen des patients était de 24 ans allant de 2 ans à 70 ans. La porte d'entrée était dominée par l'atteinte sinusienne retrouvée chez 43  malades. L'examen ophtalmologique a montré une BAV chez 20% des patients avec une cécité bilatérale chez un patient et unilatérale chez 3, un chémosis (82%), une exophtalmie (85,71%), un ptosis (30%), une ophtalmoplégie (66%), une fistule orbitaire (4 cas), et une kératite d'exposition chez 8 cas. L'analyse des résultats tomodensitométriques a noté: 24 cas de cellulite pré septale (45%), 20 cas de cellulite orbitaire (15%), 2 cas d'abcès sous périosté (5%) et 14 cas d'abcès orbitaire (35%). 20 patients ont  bénéficié d'un traitement chirurgical associé au traitement médical, ayant consisté en un drainage de l'abcès orbitaire dans 24 cas, une ethmoidectomie antérieure par voie endoscopique avec drainage d'un abcès sous-périosté dans 2 cas à et un drainage d'une collection abcédée des parties molles dans 6 cas. La cellulite orbitaire est une urgence thérapeutique qui met en jeu le pronostic visuel et vital. Causés le plus fréquemment par les traumatismes oculaires post chirurgicale ou AVP, les sinusites, les fractures orbitaires, et les corps étrangers intraoculaires. Les infections rétro-septales sont les plus graves,  nécessitant une exploration par imagerie en coupes. L'évolution de la cellulite orbitaire est toujours grave en l'absence d'un traitement médical et chirurgical strict. Le traitement précoce et adapté représente un élément pronostique très important. Les cellulites orbitaires est une affection grave pouvant engager le pronostic vital et fonctionnel, surtout lorsque le diagnostic est tardif et la prise en charge inappropriée.Key words: Cellulite preseptale, cellulite retroseptale, cecité, sinusite

Synthesis, crystal structure and Hirshfeld surface of ethyl 2-[2-(methylsulfanyl)-5-oxo-4,4-diphenyl-4,5-dihydro-1H-imidazol-1-yl]acetate (thiophenytoin derivative)

The di­hydro­imidazole ring in the title mol­ecule, C20H20N2O3S, is slightly distorted and the lone pair on the tri-coordinate nitro­gen atom is involved in intra-ring π bonding. The methyl­sulfanyl substituent lies nearly in the plane of the five-membered ring while the ester substituent is rotated well out of that plane. In the crystal, C—H⋯O hydrogen bonds form inversion dimers, which are connected along the a- and c-axis directions by additional C—H⋯O hydrogen bonds, forming layers parallel to the ac plane. The major contributors to the Hirshfeld surface are C⋯H/H⋯C, O⋯H/H⋯O and S⋯H/H⋯S contacts at 20.5%, 14.7% and 4.9%, respectively

The Tietz syndrome associated with cardiac malformation: a case report with literature review

Abstract Background Tietz syndrome is a very rare clinical entity characterized by the association of profound bilateral congenital sensorineural deafness and generalized hypopigmentation of skin, eyes, and integuments (snow white appearance). It is an autosomal dominant syndrome due to a mutation in the melanocyte inducing transcription factor (MITF) gene. The association of a heart malformation has never been reported in this syndrome. Case presentation We report two cases of two cousins aged 5 years and 20 months respectively with a history of first degree consanguineous parents. Both girls presented with diffuse hypopigmentation of the skin, blond hair, blue eyes, and bilateral diffuse retinal hypopigmentation at ocular fundus exam. Bilateral profound sensorineural hearing loss was confirmed by auditory brainstem response in both cases. Echocardiography revealed a cardiac malformation such as interventricular communication in the older cousin and interatrial communication in the younger cousin. The family investigation did not reveal a similar case among ancestors. The diagnosis of Tietz syndrome was based on clinical criteria and pedigree. The older cousin underwent a total optical correction and a right unilateral cochlear implantation followed by speech therapy with a satisfactory result after a follow-up of two years. Unfortunately, the little cousin died following a head trauma. Conclusions Tietz syndrome is a rare autosomal dominant genetic disorder, characterized by generalized albinism with bilateral profound hearing loss. It results from a nontruncating mutation in the basic domain of in the MITF gene. Its management must include, in addition to hearing and ophthalmic rehabilitation, the research and treatment of cardiac malformations which may be life-threatening

Impacts of Anthropogenic Factors on the Groundwater Ecosystem of Fezouata in South-East of Morocco

The depletion of aquifer systems in arid and semiarid regions worldwide is causing acute water scarcity and quality degradation, and leading to extensive ecosystem damages. Groundwater is exposed to a variety of anthropogenic water pollution, such as raw wastewater disposal in the Draa Wadi and the use of septic tanks. In this respect, a study performed in some wells of Fezouata (South-east of Morocco) aimed at both discovering the main components of the aquatic subterranean fauna unknown up to now in this area, and the potential relationships between this fauna and the water quality The principal physico-chemical characteristics of water were measured between November 2019 to March 2021 for 15 wells, which were selected considering their position with respect to the pollution sources known in surface. The Fezouata groundwater is distinguished by its high salinity with an increasing gradient from upstream to downstream. The aquatic fauna in the 15 wells showed 12 stygofauna species. In the protected wells which are situated far from the pollution sources, the fauna is dominated by Cirolanidae, Hydrobiidae, Metacrangonctydae, Stenasellidae, and Thermosbaenacea. On the other hand, in the less protected well, close to the pollution sources, the fauna is made of epigean species, such as insect’s larva, mainly Culicidae and Chironomidae. The analysis of the water quality and the subterranean biodiversity shows that the latter decreases with increasing groundwater pollution. It seems that the impact of the acute pollution affected the stygocenose even by reducing drastically the biodiversity

2-[4-(2-Chlorobenzyl)-3-methyl-6-oxo-1,6-dihydropyridazin-1-yl]-N-(4-fluorophenyl)acetamide

The conformation of the title molecule, C20H17ClFN3O2, is partly determined by an intramolecular C—H...O hydrogen bond, which leads to a dihedral angle of 14.7 (4)° between the fluorobenzene ring and the acetamide group. The 2-chlorobenzyl group is rotationally disordered over two orientations in a 0.656 (2): 0.344 (2) ratio. In the crystal, a layered structure is formed by N—H...O, C—H...O and C—H...F hydrogen bonds plus slipped π–π stacking interactions

Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients

We aimed to determine the diagnostic yield of a targeted-exome panel in a cohort of 74 Dutch primary ciliary dyskinesia (PCD) patients. The panel consisted of 26 PCD-related and 284 candidate genes. To prioritize PCD candidate genes, we investigated the transcriptome of human airway cells of 12 healthy volunteers during in vitro ciliogenesis and hypothesized that PCD-related genes show significant upregulation. We compared gene expression in epithelial precursor cells grown as collagen monolayer and ciliated cells grown in suspension by RNA sequencing. All genes reported as PCD causative, except NME8, showed significant upregulation during in vitro ciliogenesis. We observed 67.6% diagnostic yield when testing the targeted-exome panel in our cohort. There was relatively high percentage of DNAI and HYDIN mutations compared to other countries. The latter may be due to our solution for the problem of the confounding HYDIN2 pseudogene. Candidate genes included two recently published PCD-related genes DNAJB13 and PIH1D3; identification of the latter was a direct result of this study. In conclusion, we demonstrate 67.6% diagnostic yield by targeted exome sequencing in a Dutch PCD population and present a highly sensitive and moderately specific approach for identification of PCD-related genes, based on significant upregulation during in vitro ciliogenesis

PLS3 Mutations in X-Linked Osteoporosis with Fractures

<p>Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. This variant was also associated with a risk of fracture among elderly heterozygous women that was two times as high as that among noncarriers, which indicates that genetic variation in PLS3 is a novel etiologic factor involved in common, multi-factorial osteoporosis.</p>