La mucormycose nasosinusienne: Diagnostic et modalites therapeutiques

La mucormycose est une infection fongique rare qui touche essentiellement les sujets immunodéprimés et notamment diabétiques. La localisation de cette maladie est surtout nasosinusienne. Son pronostic reste mauvais malgré le développement des moyens de prise en charge. Nous rapportons deux cas de mucormycose nasosinusienne à travers lesquels nous discutons les aspects cliniques et radiologiques, ainsi que les moyens thérapeutiques de cette maladie. Il s’agit d’un homme et d’une femme âgés respectivement de 56 et 52 ans. Le premier était diabétique et la deuxième insuffisante rénale. L’évolution était lente dans le premier cas et très rapide dans le deuxième. Le diagnostic était dans les deux cas histologique. L’évolution était, dans le premier cas, favorable après traitement associant débridement chirurgical et amphotéricine B, et dans le second rapidement fatale. Conclusion : La mucormycose nasosinusienne est une affection grave dont le pronostic peut être mauvais malgré le traitement.Mots clés : Infection fongique, mucormycose rhinocérébrale, zygomycètes

Penile hair coil strangulation of the child

AbstractWe report the case of a child with a delayed presentation of penile strangulation with a coil of hair that resulted in a complete transection of the urethra. Hair coil strangulation of the penis is uncommon. It is also known as penile Tourniquet syndrome. It has been reported with circumcised and uncircumcised penises and it can lead to serious complications like the amputation of the penis. Prompt diagnosis and treatment are necessary to prevent complications

Modelling home care organisations from an operations management perspective

Home Care (HC) service consists of providing care to patients in their homes. During the last decade, the HC service industry experienced significant growth in many European countries. This growth stems from several factors, such as governmental pressure to reduce healthcare costs, demographic changes related to population ageing, social changes, an increase in the number of patients that suffer from chronic illnesses, and the development of new home-based services and technologies. This study proposes a framework that will enable HC service providers to better understand HC operations and their management. The study identifies the main processes and decisions that relate to the field of HC operations management. Hence, an IDEF0 (Integrated Definition for Function Modelling) activity-based model describes the most relevant clinical, logistical and organisational processes associated with HC operations. A hierarchical framework for operations management decisions is also proposed. This analysis is derived from data that was collected by nine HC service providers, which are located in France and Italy, and focuses on the manner in which operations are run, as well as associated constraints, inputs and outputs. The most challenging research areas in the field of HC operations management are also discussed

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population

Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also impedes the selection and evaluation of patients undergoing therapy bone marrow transplantation

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients

<p>Abstract</p> <p>Background</p> <p>Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.</p> <p>Aim of study: This study was carried out on six newly collected MPS I patients recruited from many regions of Tunisia.</p> <p>Patients and methods: Mutational analysis of the IDUA gene in unrelated MPS I families was performed by sequencing the exons and intron-exon junctions of IDUA gene.</p> <p>Results</p> <p>Two novel IDUA mutations, p.L530fs (1587_1588 insGC) in exon 11 and p.F177S in exon 5 and two previously reported mutations p.P533R and p.Y581X were detected. The patient in family 1 who has the Hurler phenotype was homozygous for the previously described nonsense mutation p.Y581X.</p> <p>The patient in family 2 who also has the Hurler phenotype was homozygous for the novel missense mutation p.F177S. The three patients in families 3, 5 and 6 were homozygous for the p.P533R mutation. The patient in family 4 was homozygous for the novel small insertion 1587_1588 insGC. In addition, eighteen known and one unknown IDUA polymorphisms were identified.</p> <p>Conclusion</p> <p>The identification of these mutations should facilitate prenatal diagnosis and counseling for MPS I in Tunisia.</p> <p>Background</p> <p>Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by the deficient activity of the enzyme of α-L-iduronidase (IDUA, EC 3.2.1.76). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. The clinical phenotype of MPS I ranges from the very severe in Hurler syndrome (MPS IH) to the relatively benign in Scheie syndrome (MPS IS), with an intermediate phenotype designated Hurler/Scheie (MPS IH/S) <abbrgrp><abbr bid="B1">1</abbr></abbrgrp>. Isolation of complementary and genomic DNAs encoding human α -L- iduronidase <abbrgrp><abbr bid="B2">2</abbr><abbr bid="B3">3</abbr></abbrgrp> have enable the identification of mutations underlying the enzyme defect and resulting in MPS I clinical phenotype. More than 100 mutations have been reported in patients with the MPS I subtypes (Human Gene Mutation Database; <url>http://www.hgmd.org</url>). High prevalence of the common mutations p.W402X and p.Q70X has been described; both of them in the severe clinical forms <abbrgrp><abbr bid="B4">4</abbr><abbr bid="B5">5</abbr></abbrgrp>. A high prevalence of common mutation p.P533R has also been described in MPS I patients with various phenotypes <abbrgrp><abbr bid="B5">5</abbr><abbr bid="B6">6</abbr></abbrgrp>. In addition, rare mutations including single base substitution, deletion, insertion and splicing site mutation have been identified <abbrgrp><abbr bid="B7">7</abbr></abbrgrp>, indicating a high degree of allelic heterogeneity in IDUA gene.</p> <p>Here, we described two novel IDUA mutations in MPS I Tunisian patients. These lesions were homoallelic in all the patients of the six families investigated as consanguineous marriages are still frequent in Tunisia <abbrgrp><abbr bid="B8">8</abbr></abbrgrp>.</p

Circulating microparticles: square the circle

Background: The present review summarizes current knowledge about microparticles (MPs) and provides a systematic overview of last 20 years of research on circulating MPs, with particular focus on their clinical relevance. Results: MPs are a heterogeneous population of cell-derived vesicles, with sizes ranging between 50 and 1000 nm. MPs are capable of transferring peptides, proteins, lipid components, microRNA, mRNA, and DNA from one cell to another without direct cell-to-cell contact. Growing evidence suggests that MPs present in peripheral blood and body fluids contribute to the development and progression of cancer, and are of pathophysiological relevance for autoimmune, inflammatory, infectious, cardiovascular, hematological, and other diseases. MPs have large diagnostic potential as biomarkers; however, due to current technological limitations in purification of MPs and an absence of standardized methods of MP detection, challenges remain in validating the potential of MPs as a non-invasive and early diagnostic platform. Conclusions: Improvements in the effective deciphering of MP molecular signatures will be critical not only for diagnostics, but also for the evaluation of treatment regimens and predicting disease outcomes

Effets du recuit sur les propriétés optiques du silicium amorphe hydrogéné

The changes during annealing of the optical properties of a-Si: H thin films prepared by glowdischarge on high-temperature substrate are investigated. The results are analyzed in relation with the variation of the hydrogen concentration determined in a previous work. They bring information on the mode of incorporation of hydrogen to the a-Si network, and on its effects on the density of electronic states.On étudie l'évolution au cours du recuit des propriétés optiques de couches minces de a-Si: H préparées par décomposition sous plasma sur support à haute température. Les résultats sont analysés en fonction de la variation de la concentration d'hydrogène déterminée dans un travail antérieur. Ils permettent de préciser la façon dont l'hydrogène est incorporé au réseau de a-Si et dont il affecte sa densité d'états électroniques