Mélanome sur naevus congénital: à propos d’un cas

Les naevus congénitaux surviennent chez environ 1% des nouveau-nés. La classification la plus utilisée est basée sur leur taille; on parle de naevus congénital de petite taille quand le plus grand diamètre est inférieur à 1,5cm, de naevus de taille intermédiaire pour ceux compris entre 1,5 et 19,9cm, de naevus large quand le diamètre est supérieur à 20cm et de naevus géant quand la taille est supérieur à 40cm, avec fréquence des lésions satellites. Le risque de transformation en mélanome est estimé 6,3% pour les naevus géants, elle survient généralement avant l'âge de 20 ans, d'où l'indication d'une exérèse précoce. Ce risque est d'autant plus faible que la taille du naevus est petite, et la transformation est généralement tardive; Nous rapportons le cas d'une patiente de 60 ans, sans antécédents pathologiques, qui présente depuis la naissance un naevus congénital de la fesse gauche avec apparition il ya 2 ans d'un nodule pigmenté au sein de l'ancienne lésion augmentant progressivement de taille, l'examen dermato trouve un naevus congénital fusiforme de 12 cm de grand axe surmontée d'un tumeur pigmentée sessile mesurant 4 cm de diamètre, l'examen dermoscopique objective une vascularisation polymorphe avec un voile gris bleu, le reste de l'examen somatique trouve une adénopathie inguinale gauche centimétrique, l'étude histologique est en faveur d'un mélanome, le bilan d'extension objectivait une adénopathie inguinale suspecte dont l'étude histologique était en faveur d'une métastase. La patiente a bénéficié d'une exérèse avec des marges de 2 cm, puis adressée à l'oncologie pour prise en charge

Discrete papular lichen myxedematosus: a rare entity or an under- diagnosed disease?

Primary cutaneous mucinoses are characterized by abnormal mucin deposits in the skin. Discrete papular lichenmyxedematosus (DPLM) is an unusual subtype which is characterized by the presence of multiples  smooth, waxy, or flesh-colored papules, 2 to 5 mm in size affecting the trunk and limbs and most commonly proximal sites. We report a 42-year-old man with both the clinical and histopathological described criteriaKey words: Mucinosis-discrete, papular lichen, myxedematosu

Association of specific ACE2 and TMPRSS2 variants with circulatory cytokines of COVID-19 Emirati patients

IntroductionThe COVID-19 pandemic represented one of the most significant challenges to researchers and healthcare providers. Several factors determine the disease severity, whereas none alone can explain the tremendous variability. The Single nucleotide variants (SNVs) in angiotensin-converting enzyme-2 (ACE2) and transmembrane serine protease type-2 (TMPRSS2) genes affect the virus entry and are considered possible risk factors for COVID-19.MethodsWe compiled a panel of gene variants from both genes and used in-silico analysis to predict their significance. We performed biological validation to assess their capacity to alter the ACE2 interaction with the virus spike protein. Subsequently, we conducted a retrospective comparative genome analysis on those variants in the Emirati patients with different disease severity (total of 96) along with 69 healthy control subjects.ResultsOur results showed that the Emirati population lacks the variants that were previously reported as associated with disease severity, whereas a new variant in ACE2 “Chr X:g.15584534” was associated with disease severity specifically among female patients. In-silico analysis revealed that the new variant can determine the ACE2 gene transcription. Several cytokines (GM-CSF and IL-6) and chemokines (MCP-1/CCL2, IL-8/CXCL8, and IP-10/CXCL10) were markedly increased in COVID-19 patients with a significant correlation with disease severity. The newly reported genetic variant of ACE2 showed a positive correlation with CD40L, IL-1β, IL-2, IL-15, and IL-17A in COVID-19 patients.ConclusionWhereas COVID-19 represents now a past pandemic, our study underscores the importance of genetic factors specific to a population, which can influence both the susceptibility to viral infections and the level of severity; subsequently expected required preparedness in different areas of the world

Le sarcome d'EWINGdes parties molles.

Le sarcome d’Ewing des parties molles est une pathologie rare qui touche l’adulte jeune. Les tumeurs neuroectodermiques primitives (PNET) et le sarcome d’Ewing des parties molles ont été longtemps considérés comme deux entités anatomo-cliniques distinctes. Plus récemment, il s’est avéré que le sarcome d’Ewing n’est que la forme la plus indifférenciée des PNET. Le diagnostic relève essentiellement de la cytogénétique et de l’immunohistochimie. Devant l’absence de signes cliniques et radiologiques spécifiques, il semble nécessaire de l’inclure dans le diagnostic différentiel de toute tumeur primitive des parties molles. Le traitement repose sur l’association chirurgie, chimiothérapie et radiothérapie. La polychimiothérapie à forte dose associée à la greffe de cellules souches hématopoïétiques permet d’améliorer considérablement le pronostic à long term

I gränslandet mellan kvinnlig service och manlig IT : En diskurspsykologisk undersökning av svenska högskolebibliotekariers yrkesidentitet

The aim of this study is to examine whether or not male and female academic librarians describe their professionalidentity differently from one another, and how they use a gender-based language in their descriptions. The study makes six semi structured qualitative interviews with three male and three female academic librarians, and the transcribed interviews are analysed using discourse psychology. The study shows that the male and female respondents use a gender-based language when describing their work tasks and academic libraries as a whole, but there was no difference between how female and male respondents described their own professional identity. The study came to the conclusion that academic libraries are attributed male characteristics by the respondents, in contrast to public libraries who are attributed female characteristics. Academic libraries are therefore perceived to have a higher status in society compared to public libraries

Giant congenital melanocytic nevus with neurofibroma-like lesions and onset of vitiligo

Giant congenital pigmented nevus and neurofibromatosis type 1 may rarely occur together. We reported here an unusual case where giant congenital melanocytic nevus was associated with neurofibroma-like lesions and vitiligo, emphasizing the clinical and histological diagnostic difficulties posed by this presentation, the signification of vitiligo which can testify of a possible malignant transformation of the giant nevus to a melanoma, and highlights the importance of an accurate diagnosis and a close follow-up of such patients

Association of specific ACE2 and TMPRSS2 variants with circulatory cytokines of COVID-19 Emirati patients

Introduction: The COVID-19 pandemic represented one of the most significant challenges to researchers and healthcare providers. Several factors determine the disease severity, whereas none alone can explain the tremendous variability. The Single nucleotide variants (SNVs) in angiotensin-converting enzyme-2 (ACE2) and transmembrane serine protease type-2 (TMPRSS2) genes affect the virus entry and are considered possible risk factors for COVID-19. Methods: We compiled a panel of gene variants from both genes and used in-silico analysis to predict their significance. We performed biological validation to assess their capacity to alter the ACE2 interaction with the virus spike protein. Subsequently, we conducted a retrospective comparative genome analysis on those variants in the Emirati patients with different disease severity (total of 96) along with 69 healthy control subjects. Results: Our results showed that the Emirati population lacks the variants that were previously reported as associated with disease severity, whereas a new variant in ACE2 “Chr X:g.15584534” was associated with disease severity specifically among female patients. In-silico analysis revealed that the new variant can determine the ACE2 gene transcription. Several cytokines (GM-CSF and IL-6) and chemokines (MCP-1/CCL2, IL-8/CXCL8, and IP-10/CXCL10) were markedly increased in COVID-19 patients with a significant correlation with disease severity. The newly reported genetic variant of ACE2 showed a positive correlation with CD40L, IL-1β, IL-2, IL-15, and IL-17A in COVID-19 patients. Conclusion: Whereas COVID-19 represents now a past pandemic, our study underscores the importance of genetic factors specific to a population, which can influence both the susceptibility to viral infections and the level of severity; subsequently expected required preparedness in different areas of the world