Résection laparoscopique d’une duplication gastrique chez l’adulte: traitement avec succès pour une pathologie rare

Les duplications de l'appareil digestif sont les malformations congénitales rares qui peuvent toucher tout  l'appareil digestive depuis la bouche jusqu' à l'anus. Certaines duplications sont asymptomatiques et sont diagnostiqués dans la plupart des cas pendant l'enfance. La prise en charge de la duplication gastrique est essentiellement chirurgicale. Le traitement de choix est l'exérèse complète de la duplication gastrique. Les auteurs rapportent un cas inhabituel de duplication gastrique complètement reséquée par laparoscopie. A notre connaissance, ceci est le premier cas d'une duplication gastrique traitée avec succès par laparoscopie dans la littérature Tunisienne. La Résection laparoscopique peut être ajoutée à l'arsenal thérapeutique dans le traitement chirurgical de duplications du tube digestif.Key words: Duplication, estomac, diagnostic, endoscopi

A year of genomic surveillance reveals how the SARS-CoV-2 pandemic unfolded in Africa.

The progression of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic in Africa has so far been heterogeneous, and the full impact is not yet well understood. In this study, we describe the genomic epidemiology using a dataset of 8746 genomes from 33 African countries and two overseas territories. We show that the epidemics in most countries were initiated by importations predominantly from Europe, which diminished after the early introduction of international travel restrictions. As the pandemic progressed, ongoing transmission in many countries and increasing mobility led to the emergence and spread within the continent of many variants of concern and interest, such as B.1.351, B.1.525, A.23.1, and C.1.1. Although distorted by low sampling numbers and blind spots, the findings highlight that Africa must not be left behind in the global pandemic response, otherwise it could become a source for new variants

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance.

Investment in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing in Africa over the past year has led to a major increase in the number of sequences that have been generated and used to track the pandemic on the continent, a number that now exceeds 100,000 genomes. Our results show an increase in the number of African countries that are able to sequence domestically and highlight that local sequencing enables faster turnaround times and more-regular routine surveillance. Despite limitations of low testing proportions, findings from this genomic surveillance study underscore the heterogeneous nature of the pandemic and illuminate the distinct dispersal dynamics of variants of concern-particularly Alpha, Beta, Delta, and Omicron-on the continent. Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve while the continent faces many emerging and reemerging infectious disease threats. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance

INTRODUCTION Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic. RATIONALE We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs). RESULTS Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants. CONCLUSION Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century

Is improvement of fatigue in rheumatoid arthritis a proper effect of biologics?

Background. The objective of our present study is to assess the relation between persistent fatigue and rheumatoid arthritis (RA) disease activity and its functional impact and to determine if the positive effect of biologics on fatigue is due to good disease response or to a different pathway

Tophaceous hip gouty arthritis revealing asymptomatic axial gout

Background: Hip and axial involvement is uncommon during gout and may raise diagnostic challenges. We describe a rare case of tophaceous hip gout which lead to the diagnosis of asymptomatic axial tophaceous gout at a single rheumatology center. Case presentation: A 35-year-old man, diagnosed with tophaceous polyarticular gout 14 years before presentation, consulted for a gout attack with reduced hip range‐of‐motion on physical examination and an increased serum uric acid level (655 µmol/L). He had been regularly taking colchicine, allopurinol (300 mg/j), and occasionally non-steroidal antiinflammatory drugs. Plain Radiography of the hips revealed bilateral circumferential joint space narrowing, subchondral erosions of the right acetabular, a calcified soft tissue tophus of the left hip and bilateral sacroiliitis grade IV. Computed tomography (CT) showed total ankylosis of the upper segments of both sacroiliac joints and bilateral hip joint space narrowing, subchondral geode eroding the right acetabulum. Moreover, CT revealed soft-tissue tophi involving the major trochanter of the left acetabulum, the right coxofemoral joint and lowest two levels of lumbar facet joints (L4-L5; L5-S1). A spinal and plevis magnetic resonance imaging (MRI) concluded on a gouty tophi, locolized bilaterally intraarticularly in the coxofemoral joints, gluteus medius bursae, lumbar facet joints (L4-L5; L5-S1), and cofirmed bilateral sacroiliitis. Conclusion: The axial and hip gouty arthritis are exceptionnel localisation. Radiographic imaging tools, mainly CT and MRI, may show the monosodium urate crystals and tophi that can contribute to bone and joint lesions of gout. They also allow the exclusion of other possible etiologies such as spondylodiscitis, infection, and neoplasia. Keywords: Gout, Tophi, Hip, Sacroiliitis, Lumbar spin

Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation

Abstract Background Primary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients. Methods Common mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1. Results We described 16 cases (eight adult and eight children) with a 33-34InsC mutation with a median age of 24 years [6 months - 73 years]. All children were in end stage renal disease (ESRD) at the median age of 3 years due to lithiasis and/or nephrocalcinosis. Unfortunately, 75% of them died with a median age of 2.5 years. For the majority of adults only spontaneous elimination of urolithiasis were noted, 37.5% preserved until now a normal renal function and 62.5% of them reached ESRD at the median age of 55.8 ± 12.31 years old. Conclusion In this study 33-34InsC mutation gives a controversial clinical effect in children and adults. The implication of other genetic and/or environmental factors can play a crucial role in determining the ultimate phenotype

A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.

International audienceBackground:Glycogen storage disease type III (GSDIII), due to a deficiency of glycogen debrancher enzyme (GDE), is particularly frequent in Tunisia. Phenotypic particularities of Tunisian patients remain unknown. Our aim was to study complications of GSDIII in a Tunisian population and to explore factors interfering with its course.Methods:A retrospective longitudinal study was conducted over 30 years (1986–2016) in the referral metabolic center in Tunisia.Results:Fifty GSDIII patients (26 boys), followed for an average 6.75 years, were enrolled. At the last evaluation, the median age was 9.87 years and 24% of patients reached adulthood. Short stature persisted in eight patients and obesity in 19 patients. Lower frequency of hypertriglyceridemia (HTG) was associated with older patients (p<0.0001), higher protein diet (p=0.068) and lower caloric intake (p=0.025). Hepatic complications were rare. Cardiac involvement (CI) was frequent (91%) and occurred early at a median age of 2.6 years. Severe cardiomyopathy (50%) was related to lower doses of uncooked cornstarch (p=0.02). Neuromuscular involvement (NMI) was constant, leading to a functional discomfort in 64% of cases and was disabling in 34% of cases. Severe forms were related to lower caloric (p=0.005) and protein intake (p<0.015).Conclusions:A low caloric, protein and uncooked cornstarch intake is associated with a more severe outcome in GSDIII Tunisian patients. Neuromuscular and CIs were particularly precocious and severe, even in childhood. Genetic and epigenetic factors deserve to be explored