Meckel-Gruber syndrome: about a case identified during deliver

Meckel-Gruber syndrome is an autosomal recessive disorder, usually lethal, most commonly characterised by the classic triad of polycystic kidneys, occipital encephalocele and polydactyly. Antenatal diagnosis can be made by ultrasound between 10 and 14 weeks of amenorrhoea. Recognition of this syndrome is important in order to establish the diagnosis and provide genetic counselling. Finally, well supervised termination of pregnancy should be the rule for lethal fetal malformations in order to relieve the psychological suffering of patients. However, in certain situations or working conditions, the diagnosis can be made late or even discovered during childbirth. We report a case of Meckel Gruber syndrome discovered at birth

Amniotic band syndrome: a new case report

Amniotic band syndrome is a pathology affecting the extremities of the fetus. It is uncommon with rates around 1 per 10,000 births. The pathophysiology is poorly understood until now with several theories reported in the literature. The diagnosis is most often made at birth. We reported a case of a 40 year old patient with no particular history who had consulted for spontaneous premature rupture of membranes in a 20 weeks pregnancy. The diagnostic of amniotic band syndrome was made after the delivery with amputation of a limb, amniotic syndactilia and deformation of the right foot in equinovarus

About a case of a specific complication of monoamniotic twin pregnancy: umbilical cord entanglement

Monoamniotic twin pregnancies are uncommon and often complicated by umbilical cord entanglement. It is important to investigate a umbilical cord entanglement during antenatal ultrasound examinations. The diagnosis is based on ultrasound with color and pulsed Doppler. Despite the high percentage of cord entanglement, the perinatal mortality rate remains very low. Rigorous ultrasound monitoring and recording of fetal heart rhythms can improve the prognosis. We report a case of umbilical cord entanglement in a monoamniotic twin pregnancy discovered during a caesarean section with a favorable outcome

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

Community case management in malaria: review and perspectives after four years of operational experience in Saraya district, south-east Senegal.

BACKGROUND: Despite recent advances in malaria diagnosis and treatment, many isolated communities in rural settings continue to lack access to these life-saving tools. Community-case management of malaria (CCMm), consisting of lay health workers (LHWs) using malaria rapid diagnostic tests (RDTs) and artemisinin-based combination therapy (ACT) in their villages, can address this disparity. METHODS: This study examined routine reporting data from a CCMm programme between 2008 and 2011 in Saraya, a rural district in Senegal, and assessed its impact on timely access to rapid diagnostic tests and ACT. RESULTS: There was a seven-fold increase in the number of LHWs providing care and in the number of patients seen. LHW engagement in the CCM programme varied seasonally, 24,3% of all patients prescribed an ACT had a negative RDT or were never administered an RDT, and less than half of patients with absolute indications for referral (severe symptoms, age under two months and pregnancy) were referred. There were few stock-outs. DISCUSSION: This CCMm programme successfully increased the number of patients with access to RDT and ACT, but further investigation is required to identify the cause for over-prescription, and low rates of referrals for patients with absolute indications. In contrast, previous widespread stock-outs in Saraya's CCMm programme have now been resolved. CONCLUSION: This study demonstrates the potential for CCMm programmes to substantially increase access to life-saving malarial diagnostics and treatment, but also highlights important challenges in ensuring quality

Prevalence and impact of adiposity and sarcopenia during rheumatoid arthritis: rapid and non-invasive evaluation in Sub-Saharan African women

Background: Body composition plays a fundamental role in the occurrence of complications in rheumatoid arthritis. Authors conducted this study, which aimed to determine body composition and its effects on physiological status in African sub-Saharan polyarthritis women.Methods: The anthropometric parameters were measured after an interview and a complete physical examination. The body composition was evaluated using a Tanita® brand bioimpedance meter. Finally, all the patients had a dosage of certain biochemical parameters.Results: An excess of percent fat mass was noted in more than half of women (59.52%) without loss of muscle mass. At the same time, 30% of women had a significant decrease in the percentage of body water. The BMI did not appear to be an adequate proxy for these changes. Visceral fat level was elevated just in 16% of women, however it would be a determinant of physiological aging of subjects. Dual therapy methotrexate and corticosteroid would have varying effects depending on the duration and the dose of treatment. The basic metabolism in polyarthritic subjects would be dependent on two parameters namely muscle mass and inflammatory state.Conclusions: Evaluating changes in body composition quickly, non-invasively and inexpensively is possible. It could be useful in the follow-up of rheumatoid arthritis. Managing these changes can reduce cardiovascular morbidity and mortality in rheumatoid arthritis