Churg-Strauss syndrome associated with AA amyloidosis: a case report

Churg Strauss syndrome is a rare systemic and pulmonary vasculitis exceptionally associated with AA amyloidosis. We report the case of a 65-year old woman with past medical history of asthma. She developed polyarthralgia, headache and purpura. A laboratory workout found hypereosinophilia (1150/μL), positive p-ANCA, microscopic haematuria and proteinuria at 2g/day. A diagnosis of Churg-Strauss syndrome was established based on five criteria of the American College of Rheumatology (ACR). Renal biopsy showed an important type AA amyloid deposit. The patient was treated with steroids with a good response of the vasculitis and amyloidosis with disappearance of the proteinuria.Pan African Medical Journal 2012; 12:3

Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing

Background: Large-scale human sequencing projects have described around a hundred-million single nucleotide variants (SNVs). These studies have predominately involved individuals with European ancestry despite the fact that genetic diversity is expected to be highest in Africa where Homo sapiens evolved and has maintained a large population for the longest time. The African Genome Variation Project examined several African populations but these were all located south of the Sahara. Morocco is on the northwest coast of Africa and mostly lies north of the Sahara, which makes it very attractive for studying genetic diversity. The ancestry of present-day Moroccans is unknown and may be substantially different from Africans found South of the Sahara desert, Recent genomic data of Taforalt individuals in Eastern Morocco revealed 15,000-year-old modern humans and suggested that North African individuals may be genetically distinct from previously studied African populations. Results: We present SNVs discovered by whole genome sequencing (WGS) of three Moroccans. From a total of 5.9 million SNVs detected, over 200,000 were not identified by 1000G and were not in the extensive gnomAD database. We summarise the SNVs by genomic position, type of sequence gene context and effect on proteins encoded by the sequence. Analysis of the overall genomic information of the Moroccan individuals to individuals from 1000G supports the Moroccan population being distinct from both sub-Saharan African and European populations. Conclusions: We conclude that Moroccan samples are genetically distinct and lie in the middle of the previously observed cline between populations of European and African ancestry. WGS of Moroccan individuals can identify a large number of novel SNVs and aid in functional characterisation of the genome

Conduite à tenir devant la découverte d’une gammapathie monoclonale à l’électrophorèse des protéines

La découverte d’un pic monoclonal lors d’une électrophorèse des protéines sanguines impose de réaliser un bilan biologique et radiologique afin d’éliminer en priorité une hémopathie maligne. Lorsque ce bilan complémentaire est négatif, on parle alors de gammapathie monoclonale de signification indéterminée (GMSI). Le diagnostic de GMSI implique une surveillance régulière afin d’identifier précocement les signes de transformation maligne

Systemic lupus erythematosus associated with sickle-cell disease: a case report and literature review

<p>Abstract</p> <p>Introduction</p> <p>The occurrence of systemic lupus erythematosus has been only rarely reported in patients with sickle-cell disease.</p> <p>Case presentation</p> <p>We describe the case of a 23-year-old North-African woman with sickle-cell disease and systemic lupus erythematosus, and discuss the pointers to the diagnosis of this combination of conditions and also present a review of literature. The diagnosis of systemic lupus erythematosus was delayed because our patient’s symptoms were initially attributed to sickle-cell disease.</p> <p>Conclusions</p> <p>Physicians should be alerted to the possible association of sickle-cell disease and systemic lupus erythematosus so as not to delay correct diagnosis and initiation of appropriate treatment.</p