Genetic Information to Share with Parents when Newborn Screening Reveals the Presence of Sickle Cell Trait.

The primary purpose of newborn screening for sickle cell disease is to diagnose the disease before the appearance of symptoms and to initiate early treatment. To answer the question "What genetic information needs to be communicated to parents when newborn screening reveals the presence of a sickle cell trait," we conducted a survey using a self-administered online questionnaire. We received responses from 122 healthcare workers and members of sickle cell disease associations, in France and French overseas departments. Our results showed similar positions on this issue. The information conveyed is not consistent and is the result of grassroots initiatives. The negative consequences generated by this information could be reduced when this information is delivered by a multidisciplinary team, within the framework of a dedicated consultation. This information on sickle cell trait status should be given in at least three key periods: the neonatal period, early adolescence, and later adolescence, when reproductive implications become important. Neonatal screening programs should develop systems that allow referring physicians to easily access the results of neonatal screening electronically. Harmonization of practices should allow a better analysis of the consequences of this counselling on family projects.

Hydroxyurea is associated with later onset of acute splenic sequestration crisis in sickle cell disease: Lessons from the European Sickle Cell Disease Cohort-Hydroxyurea (ESCORT-HU) study.

Acute splenic sequestration crisis (ASSC) is a potentially life-threatening complication of sickle cell disease (SCD), typically occurring in young patients under 5 years of age, with a median age at first episode of less than 2 years. Because a beneficial effect of hydroxyurea (HU) on spleen perfusion and splenic function has been suspected, we hypothesized that HU treatment might be associated with later onset of ASSC in patients with SCD. To investigate this hypothesis, we analyzed data from the ESCORT-HU study on a large cohort of patients with SCD receiving HU, enrolled between January 2009 and June 2017 with a follow-up of 7309 patient-years of observation. The median age at ASSC of the 14 patients who experienced a first episode of ASSC during the study period was 8.0 [IQR: 5.0-24.1] years. The median age at HU initiation was significantly lower in these 14 patients (4.8 [IQR: 3.3-18.7] years) compared to the 1664 patients without ASSC (19.9 [8.8-33.4] years, p = .0008). These findings suggest that ASSC may occur at an unusually late age in patients receiving HU, possibly reflecting longer preservation of spleen perfusion and function secondary to early initiation of HU. Further studies are needed to better characterize the effects of HU on spleen perfusion/function and on the occurrence of ASSC in patients with SCD (ClinicalTrials.gov identifier: NCT02516579; European registry ENCEPP/SDPP/10565).

Infant congenital heart disease prevalence and mortality in French Guiana: a population-based study.

Background: Few studies have assessed the prevalence and mortality of simple or complex congenital heart diseases (CHD) in newborns. In Latin America and Caribbean (LAC), CHD epidemiology seems highly variable, with few population-based assessments and different methodologies between studies. To date, the situation in French Guiana, a French overseas territory located in South America between Brazil and Suriname, has never been described. Methods: We analysed CHD prevalence, characteristics and related infant mortality in French Guiana, with a population-based registry analysis of all fetal and live birth CHD cases in infants under 1 year (January 2012-December 2016). Findings: Overall, 33,796 births (32,975 live births) were registered, with 231 CHD (56 fetuses), including 215 live births. Most frequent CHD categories were anomalies of the ventricular outflow tract and extra-pericardial trunks, and ventricular septal defects. 18.6% (43/231) chromosomal or genetic anomalies, and 6.5% (15/231) terminations of pregnancy were observed. Total CHD prevalence was 68.4 [95% CI: 67.9-68.8] per 10,000, while live birth prevalence was 65.2 [95% CI: 64.7-65.7] per 10,000. Total infant mortality was 9.4/10,000 live births [95% CI 9.1-9.7], with highest rates for functionally univentricular hearts (FUH). Interpretation: A distinct profile for CHD is highlighted in French Guiana with elevated mortality linked to FUH. A potential determinant of the recognized excess mortality risk might be the presence of chromosomal or genetic anomalies in about a fifth of all CHD. This helps us to better understand CHD burden in this part of South America and provides future keys towards reducing CHD-related infant mortality. Funding: The authors received no financial support for the present research, authorship, and/or publication of this article.

Description and outcomes of Afro-Caribbean children treated for multisystem inflammatory syndrome in the French West Indies.

Introduction: Several studies have reported a higher frequency and greater morbidity and mortality of multisystem inflammatory syndrome in children (MIS-C) of black African descent. Objectives: We aimed to describe the clinical, laboratory and echocardiographic characteristics as well as outcomes of children with MIS-C requiring admission to a pediatric intensive care unit (PICU) in the French West Indies (FWI), where the majority of the population is Afro-Caribbean. Methods: Ambidirectional observational cohort study between April 1, 2020 and August 31, 2022. Children (age ≤18 years) with MIS-C and organ failure were included. Every patient was monitored and treated following the same protocol, with repeated biological tests, echocardiography, intravenous steroids and polyvalent immunoglobulins. The primary outcomes were clinical, laboratory and echocardiography characteristics. Results: Forty children (median age 7 years, range: 5-11) were included. The majority (77 %) were included prospectively. Thirty-five (87 %) had gastrointestinal symptoms, 30 (75 %) presented initial heart failure (with persisting diastolic dysfunction at day 7) and 18 (45 %) had pericarditis. Sixteen (40 %) were in cardiogenic shock and required inotropic support. Median duration of inotropic support and hospitalization in PICU were respectively 4 and 5 days. The evolution curves of the inflammatory variables matched after treatment. The clinical outcomes were favorable. The Delta variant was associated with the highest incidence of MIS-C. Conclusion: This is the first description of MIS-C course among children of Afro-Caribbean descent. The outcomes were good, without any death or cardiac sequelae. Our work does not support an ethnic susceptibility for severity of MIS-C in Afro-Caribbean population.

Real-world observational study on the long-term effect of L-glutamine treatment on renal parameters of adult and pediatric patients with sickle cell disease.

Background: Sickle cell disease (SCD) is a rare genetic blood condition affecting millions worldwide. Oxidative stress is a key player in the pathogenesis of SCD and its comorbid consequences. Renal function impairment is a common complication of SCD in both pediatric and adult patients with serious consequences leading to increased risk of mortality. In this observational real-world study, we are reporting the long-term (120 weeks) renal function in 10 patients treated with L-glutamine. Methods: Ten patients (4 pediatric and 6 adults), with confirmed diagnoses of SCD (HbSS genotype), were enrolled, these included four patients from Qatar with Arab Indian haplotype and six patients from French Guiana with African haplotype. All patients were treated with L-glutamine oral powder (~0.3 g/kg body weight, Endari®) twice daily for 120 weeks. Clinical events and laboratory parameters (renal function, hemoglobin, reticulocytes, and lactate dehydrogenase [LDH]) were measured at baseline, 48, and 120 weeks. Results: The study showed that with L-glutamine treatment there were improvements in renal and hematological parameters with no vaso-occlusive crisis at both 48-and 120-week follow-up time points in all 10 patients. Improvements were seen in the albumin creatinine ratio (ACR) from baseline to 48 weeks (mean [Standard deviation SD] ACR: -4.19 [9.81] mg/g) and 120 weeks (mean [SD] ACR: -12.31 [21.09] mg/g). Mean (SD) increase in hemoglobin concentrations from baseline to 48 weeks and 120 weeks was 0.72 (1) g/dL and 1.41 (0.79) g/dL, respectively. Mean (SD) reticulocyte counts and LDH levels decreased from baseline to 48 weeks (mean [SD] change from baseline to 48 weeks, reticulocyte counts: -40.30 [101.58] × 109 cells/L; LDH levels: -259 [154.93] U/L) and 120 weeks (mean [SD] change from baseline to 120 weeks, reticulocyte counts: -58.30 [128.38] × 109 cells/L; LDH levels: -344.80 [274.63] U/L). Conclusion: This is one of the first studies that assessed the long-term renal outcomes in SCD using L-glutamine. L-glutamine improved the renal function in patients with SCD along with improvements in clinical outcomes and hemolysis, from 48 weeks and sustained through 120 weeks of treatment.

Infant mortality in French Guiana between 2001 and 2017 : Trends and comparisons with mainland France.

BACKGROUND: French Guiana is a French overseas territory which combines a well-funded universal health system and a population where half are under the poverty line. In this context, we aimed to measure and describe the causes of infant mortality and, because French Guiana is a French territory, to compare them with mainland France. METHODS: National death certificate data between 2001 and 2017 was used. RESULTS: Overall, 6.9 % of deaths before 65 years concerned infants <1 year (in mainland France 2.6%). The infant mortality rate over the 2001-2017 period was 2.6 times that of mainland France (1159.5 vs 446.2 per 100,000 infants <1 year) with excess incidence in perinatal causes, malformations and chromosomal anomalies, accidents, infectious causes, and in poorly defined conditions. Over time, there seemed to be a reduction of infant mortality for all the main causes, except for congenital malformations and chromosomal anomalies, which, on the contrary, seemed to increase. The data sources did not allow to study the weight of social factors or place of residence. CONCLUSIONS: All causes of infant mortality seemed to decline over time except malformations and chromosomal anomalies, which increased. Although exposure to heavy metals, infectious diseases are potential explanations we cannot pinpoint the cause of this increase with the available data. The present results suggest infant mortality and malformations should benefit from more detailed data sources in order to better assess and alleviate the burden of infant mortality in French Guiana.

Prenatal transmission of severe acute respiratory syndrome coronavirus 2, resulting in neonatal severe acute pneumonia, from an asymptomatic mother: a case report.

BACKGROUND: We report a case of prenatal coronavirus disease 2019, which evolved 6 days after birth into severe pneumonia with signs of multiple organ failure, in a mother with asymptomatic coronavirus disease 2019. CASE PRESENTATION: At minute 11 of life, our patient from Afro-Caribbean had polypnea with mild signs of struggle; Silverman's index was scored at three. Chest radiography showed bilateral opacities consistent with respiratory distress syndrome. On the 6th day of life, a thoracic computed tomography scan showed bilateral parenchymatous lesions (10-20%) in ground glass, compatible with coronavirus disease 2019-type infection. At the same time, the neonate showed signs of multiple organ failure (elevated liver and cardiac enzyme levels). She was treated with azithromycin (20 mg/kg/day) for 5 days. All the signs recovered fully by day 12. Real-time polymerase chain reaction results were positive in the first 30 min of life, suggesting prenatal transmission. Our patient has been followed until 2 years old and is developing well with no sequelae. CONCLUSION: This case report demonstrates the incompatibility between maternal asymptomatic coronavirus disease 2019 and severe neonatal lung involvement. We emphasize the need for vigilance to avoid missing the most severe forms of neonatal coronavirus disease 2019.

What's childhood asthma in French Guiana? A cohort study based on children referred for allergology consultations at the Cayenne hospital center.

Background: Asthma is a multifactorial chronic disease, whose most frequent etiology is allergy, especially to Blomia tropicalis. In French Guiana, the childhood prevalence of Blomia T sensitization is unkwown. The aim of this study was to determine the proportion of sensitization to Blomia T and other mites in asthmatic children, and to describe the characteristics of childhood asthma in French Guiana. Methods: A retrospective cohort study focused on children from 0 to 18 years of age, followed for asthma at the Department of Pediatrics of the Cayenne Hospital Center in French Guiana. All asthmatic children followed by the same paediatric allergist were systematically skin-tested with Bt total extract, and Bt-specific IgE tests were additionally performed to confirm specific sensitization. All follow-up variables were collected from medical records. The outcome was sensitization to Blomia tropicalis and other allergens, and the explanatory variables were those of asthma follow-up. Patients were categorized into Blomia tropicalis sensitization yes/no. Logistic regression analysis was used to assess the relationship between follow-up variables and the outcome. Results: 302 patients were followed: 177 cases of allergic rhinitis, 135 allergic conjunctivitis, 105 atopic dermatitis, 153 food allergy, and 14 cases of drug allergy. Poly-allergy (respiratory, food, skin, and medicinal) was present in 239 children. There were 158 children followed for asthma, of whom 103 (65%) were sensitized to Blomia tropicalis. The median age of the asthmatic children sensitized to Blomia tropicalis was 7 years, and 3 years for those who were not sensitized (p < 0.001). Among the girls (n = 58), 67% were sensitized to Blomia; 97 (92%) asthmatic children co-sensitized to Blomia tropicalis, Dermatophagoides pteronyssinus, and Dermatophagoides farinae. Multivariate analysis showed that the childhood asthma in French Guiana is characterized by a median age of 7 years (p < 0.001), a high prevalence of Blomia tropicalis (p < 0.001), co-sensitization to other mites (p < 0.001), and a high prevalence of co-sensitization to cockroaches (p = 0.006). The area under the ROC curve was close to 0.9, confirming the quality of our model. Conclusion: In French Guiana, asthma is characterized by a high prevalence of Blomia tropicalis sensitization.

[Overview of infectious and non-infectious diseases in French Guiana in 2022]. / Panorama des pathologies infectieuses et non infectieuses de Guyane en 2022.

Source of many myths, French Guiana represents an exceptional territory due to the richness of its biodiversity and the variety of its communities. The only European territory in Amazonia, surrounded by the Brazilian giant and the little-known Suriname, Ariane 6 rockets are launched from Kourou while 50% of the population lives below the poverty line. This paradoxical situation is a source of health problems specific to this territory, whether they be infectious diseases with unknown germs, intoxications or chronic pathologies.Some infectious diseases such as Q fever, toxoplasmosis, cryptococcosis or HIV infection are in common with temperate countries, but present specificities leading to sometimes different management and medical reasoning. In addition to these pathologies, many tropical diseases are present in an endemic and / or epidemic mode such as malaria, leishmaniasis, Chagas disease, histoplasmosis or dengue. Besides, Amazonian dermatology is extremely varied, ranging from rare but serious pathologies (Buruli ulcer, leprosy) to others which are frequent and benign such as agouti lice (mites of the family Trombiculidae) or papillonitis. Envenomations by wild fauna are not rare, and deserve an appropriate management of the incriminated taxon. Obstetrical, cardiovascular and metabolic cosmopolitan pathologies sometimes take on a particular dimension in French Guiana that must be taken into account in the management of patients. Finally, different types of intoxication are to be known by practitioners, especially due to heavy metals.European-level resources offer diagnostic and therapeutic possibilities that do not exist in the surrounding countries and regions, thus allowing the management of diseases that are not well known elsewhere.Thanks to these same European-level resources, research in Guyana occupies a key place within the Amazon region, despite a smaller population than in the surrounding countries. Thus, certain pathologies such as histoplasmosis of the immunocompromised patient, Amazonian toxoplasmosis or Q fever are hardly described in neighboring countries, probably due to under-diagnosis linked to more limited resources. French Guiana plays a leading role in the study of these diseases.The objective of this overview is to guide health care providers coming to or practicing in French Guiana in their daily practice, but also practitioners taking care of people returning from French Guiana.

The Epidemiologic Transition in French Guiana: Secular Trends and Setbacks, and Comparisons with Continental France and South American Countries.

There are great variations between population subgroups, notably in poorer countries, leading to substantial inconsistencies with those predicted by the classical epidemiologic transition theory. In this context, using public data, we aimed to determine how the singular case of French Guiana fit and transitioned in the epidemiologic transition framework. The data show a gradual decline in infant mortality to values above 8 per 1000 live births. Premature mortality rates were greater but declined more rapidly in French Guiana than in mainland France until 2017 when they reascended in a context of political turmoil followed by the COVID-19 pandemic and strong reluctance to get vaccinated. Although infections were a more frequent cause of death in French Guiana, there is a marked decline and circulatory and metabolic causes are major causes of premature death. Fertility rates remain high (>3 live births per woman), and the age structure of the population is still pyramid-shaped. The singularities of French Guiana (rich country, universal health system, widespread poverty) explain why its transition does not fit neatly within the usual stages of transition. Beyond gradual improvements in secular trends, the data also suggest that political turmoil and fake news may have detrimentally affected mortality in French Guiana and reversed improving trends.

Using pentamidine to treat cutaneous leishmaniasis in children: a 10-year study in French Guiana.

There are little data on pentamidine as a treatment for paediatric cutaneous leishmaniasis (CL). The objective of this study was to describe the effectiveness and safety of pentamidine over a 10-year period. Every child seen in French Guiana between 2010 and 2020 with proven CL and treated with pentamidine was included. In total, 55 children met the inclusion criteria - 23 girls and 32 boys. There were 38 patients (38/55, 69%) with a > 50% improvement at 1 month after pentamidine treatment and a complete cure at 3 months; 16 children had a < 50% improvement at 1 month and were given a second dose. Of these 16, 8 showed a complete cure at 3 months, 5 were lost to follow-up and 3 showed therapeutic failure at 3 months. The overall cure rate was 84% (46/55) after one or two doses. In terms of the safety of pentamidine, no severe adverse events (grade ≥ 3) were reported.

Extent of the protection afforded by histo-blood group polymorphism against rotavirus gastroenteritis in metropolitan France and French Guiana.

Human rotaviruses attach to histo-blood group antigens glycans and null alleles of the ABO, FUT2 and FUT3 genes seem to confer diminished risk of gastroenteritis. Yet, the true extent of this protection remains poorly quantified. Here, we conducted a prospective study to evaluate the risk of consulting at the hospital in non-vaccinated pediatric patients according to the ABO, FUT2 (secretor) and FUT3 (Lewis) polymorphisms, in Metropolitan France and French Guiana. At both locations, P genotypes were largely dominated by P [8]-3, with P [6] cases exclusively found in French Guiana. The FUT2 null (nonsecretor) and FUT3 null (Lewis negative) phenotypes conferred near full protection against severe gastroenteritis due to P [8]-3 strains (OR 0.03, 95% CI [0.00-0.21] and 0.1, 95% CI [0.01-0.43], respectively in Metropolitan France; OR 0.08, 95% CI [0.01-0.52] and 0.14, 95%CI [0.01-0.99], respectively in French Guiana). Blood group O also appeared protective in Metropolitan France (OR 0.38, 95% CI [0.23-0.62]), but not in French Guiana. The discrepancy between the two locations was explained by a recruitment at the hospital of less severe cases in French Guiana than in Metropolitan France. Considering the frequencies of the null ABO, Secretor and Lewis phenotypes, the data indicate that in a Western European population, 34% (95% CI [29%; 39%]) of infants are genetically protected against rotavirus gastroenteritis of sufficient severity to lead to hospital visit.

The burden of COVID-19 in French Guiana: Vaccine-averted deaths, hospitalizations and costs.

Objectives: French Guiana, the least-vaccinated French territory, also has the lowest COVID-19 vaccination coverage in Latin America. We aimed to estimate how many deaths, hospitalizations and costs the vaccines had and could have avoided. Methods: We calculated the Number Needed to Vaccinate to prevent one death per year, 1 standard hospitalization, 1 Intensive Care Unit admission given the mean incidence numbers of the past 6 months, and divided the number of persons vaccinated to estimate how many deaths and hospitalizations had been avoided in French Guiana at that time. Results: The crude number needed to vaccinate to prevent one death per year, the crude number needed to vaccinate to prevent one hospitalization per 6 months were computed Based on our observed incidence and ICU admission rate, the crude number needed to vaccinate to prevent one ICU admission per 6 months.After 6 months with an incidence exceeding 400 per million inhabitants, and 148 observed deaths, we estimate that vaccination avoided 46 deaths (IC95%=43.5-48.7). If the number of vaccinated persons had reached the same proportion as mainland France, 141 deaths per year could have been prevented (IC95%=131.9-147.6).With 2085 hospitalization and 370 ICU admissions during the same period, we estimate that the current albeit low vaccination rate avoided 300 hospital (IC95%=280-313) and 77 (IC95%=72-81) ICU admissions. With the same vaccination rates as mainland France, we estimate that 900 hospitalizations and 231 ICU admissions would have been avoided.Similarly, there would have been 139 ICU admission (instead of 370). Conclusions: In sparsely populated French Guiana these numbers are quite substantial and framing the vaccine benefits and wasted opportunities using such concrete numbers may help convincing undecided persons to get vaccinated.

Thirty years of HIV pregnancies in French Guiana: prevention successes and remaining obstetrical challenges.

Introduction: In a context of high HIV prevalence, poor pregnancy follow-up, frequent poverty, preeclampsia, and preterm delivery, we aimed to describe the characteristics and outcomes of pregnancies among women living with HIV in French Guiana. Methods: A retrospective cohort study was conducted on HIV-infected pregnancies enrolled between January 1st 1992 to 31st July 2022. Overall, there were 1,774 pregnancies in 881 women living with HIV. Results: For 75.1% of pregnancies, the HIV diagnosis was already known before pregnancy and in 67.6% of women, HIV follow-up predated pregnancy. Nearly half of women, 49.6%, only had one pregnancy since having been diagnosed with HIV. Although most women received antiretroviral therapy during pregnancy, for those with the available information we found only 48.5% had an undetectable viral load at delivery. Overall, 15.3% of pregnancies ended with an abortion. There were a total of 110 newborns infected with HIV representing an overall transmission rate of 6.2% (110/1,771). Between 1993 and 2002, the transmission rate was 34%, between 2003 and 2012 it was 1.3%, and between 2013 and 2022 it was 0.7%. Overall, in Cayenne, since 2008, 106 of 581 HIV-infected pregnancies (18.2%) with available information were premature before 37 weeks of pregnancy; of these, 33 (5.7%) were very preterm deliveries and 73 (13.3%) were late preterm deliveries. Over time, in Cayenne, preterm delivery declined significantly. Conclusions: The present study emphasizes that, despite spectacular progress in reducing mother to child transmission, pregnancy outcomes among women living with HIV are still preoccupying with high incidence of preterm delivery and low birth weight. Teasing out what fraction is linked to HIV and what fraction is linked to social precariousness and poor follow-up was not possible in this study. Despite the high incidence of very preterm delivery recent progress suggests that coordination efforts to improve follow-up may also have improved obstetrical outcomes.

Consequences of In Utero Zika Virus Exposure and Adverse Pregnancy and Early Childhood Outcomes: A Prospective Cohort Study.

We aimed to describe adverse pregnancy outcomes among women who had symptomatic, RT-PCR-confirmed ZIKV infection and early childhood outcomes among their infants. We enrolled pregnant women with symptomatic, RT-PCR-confirmed ZIKV infection in a prospective cohort study, and their infants in a prospective pediatric cohort study. We defined adverse pregnancy and early childhood outcomes based on selected neurologic, ophthalmologic, auditory, musculoskeletal, and anthropometric abnormalities. We used RT-PCR and serologic tests to determine the ZIKV infection status of the child. Between 10 March and 24 November 2016, we enrolled 546 pregnant women with RT-PCR-confirmed ZIKV infection. The overall risk of adverse pregnancy and early childhood outcomes possibly related to in utero ZIKV exposure was 15.7% (95% CI: 12.8-19.0), distributed as follows: 3.6% (95% CI: 2.3-5.6) severe sequelae or fatality; 2.7% (95% CI: 1.6-4.5) major abnormalities; 9.4% (95% CI:7.1-12.2) mild abnormalities. The risk of severe sequelae or fatality was higher when ZIKV infection occurred during the first trimester (7.0%), compared to the second (2.7%) or third trimester (1.4%) (p = 0.02). Among the infants for whom ZIKV infection status could be determined, the vertical transmission rate was 3.0% (5/167) (95% CI: 1.1-7.2). Among pregnant women with symptomatic, RT-PCR-confirmed ZIKV infection, severe or major pregnancy or early childhood outcomes were present in 6.3% of fetuses and infants. Severe outcomes occurred more frequently in fetuses and infants whose mothers had been infected in the first trimester.

Systemic lupus of pediatric onset in Afro-Caribbean children: a cohort study in the French West Indies and French Guiana.

BACKGROUND: Systemic diseases of pediatric onset are more frequent in the Afro-Caribbean population. We performed a study of patients followed in the French overseas departments of America (FOAD) for pediatric systemic lupus erythematosus (pSLE). The aims were to describe the clinical and biological specificities during childhood in this population. METHODS: A retrospective study was conducted between January 2000 and September 2021. Patients with pSLE were identified from multiple sources: computerized hospital archives, registry of referring pediatricians, adult specialists in internal medicine and the French National Registry for rare diseases. We studied SLE with pediatric onset defined by international criteria. RESULTS: Overall, 2148 patients were identified, of whom 54 were included. The average follow-up was 8.3 years (range: 0.3-25 years). We observed an increase in new diagnoses over time. At onset, pSLE patients had a median of 10 SLICC criteria (range: 4-12), and the median EULAR/ACR 2019 score was 38 (12-54). At onset, one third of patients had renal involvement, 15% had neurolupus and 41% cardiac involvement. During childhood, 54% had renal involvement, and 26% suffered from neurolupus. Patients suffered a median of 3 flares during childhood, and 26% had more than 5 flares. Patients with younger age at onset had worse outcomes than those who were older at diagnosis, i.e., more flares (median 5, p = 0.02) and requiring an average of 4 background therapies (p = 0.04). CONCLUSION: The outcomes of Afro-Caribbean patients were similar to those in Western population, but with worse disease activity at onset. Further studies should be performed to identify the genetic and environmental factors in this population.

French Scorpionism (Mainland and Oversea Territories): Narrative Review of Scorpion Species, Scorpion Venom, and Envenoming Management.

Sixty-seven scorpion species have been described in France and its territories, where they have been found to be heterogeneously distributed. Indeed, only one species can be found on Réunion Island, while 38 species exist in French Guiana. The number of stings is also heterogenous, with up to 90 stings per 100,000 inhabitants occurring annually. Scorpion species can frequently be determined through simple visual factors, including species of medical importance (i.e., Buthus, Centruroides and Tityus). Scorpion venom is composed of local enzymes and peptides with a cysteine-stabilized α/ß motif (NaTxs, Ktxs, Calcines), which allow for venom diffusion and the prey's incapacitation, respectively. Harmful scorpion species are limited to Centruroides pococki in the French West Indies, which can induce severe envenoming, and the Tityus obscurus and Tityus silvestris in French Guiana, which can cause fatalities in children and can induce severe envenoming, respectively. Envenomation by one of these scorpions requires hospital monitoring as long as systemic symptoms persist. Typical management includes the use of a lidocaine patch, pain killers, and local antiseptic. In the case of heart failure, the use of dobutamine can improve survival, and pregnant women must consult an obstetrician because of the elevated risk of preterm birth or stillbirth. France does not have scorpion antivenom, as scorpion stings are generally not fatal.

Saliva for molecular detection of SARS-CoV-2 in pre-school and school-age children.

SARS-CoV-2 diagnosis is a cornerstone for the management of coronavirus disease 2019 (COVID-19). Numerous studies have assessed saliva performance over nasopharyngeal sampling (NPS), but data in young children are still rare. We explored saliva performance for SARS-CoV-2 detection by RT-PCR according to the time interval from initial symptoms or patient serological status. We collected 509 NPS and saliva paired samples at initial diagnosis from 166 children under 12 years of age (including 57 children under 6), 106 between 12 and 17, and 237 adults. In children under 12, overall detection rate for SARS-CoV-2 was comparable in saliva and NPS, with an overall agreement of 89.8%. Saliva sensitivity was significantly lower than that of NPS (77.1% compared to 95.8%) in pre-school and school-age children but regained 96% when considering seronegative children only. This pattern was also observed to a lesser degree in adolescents but not in adults. Sensitivity of saliva was independent of symptoms, in contrary to NPS, whose sensitivity decreased significantly in asymptomatic subjects. Performance of saliva is excellent in children under 12 at early stages of infection. This reinforces saliva as a collection method for early and unbiased SARS-CoV-2 detection and a less invasive alternative for young children.

Real-World data on efficacy of L-glutamine in preventing sickle cell disease-related complications in pediatric and adult patients.

Background: L-glutamine has been shown to play an important role in the regulation of oxidative stress which is one of the key contributors to the pathophysiology of sickle cell disease (SCD). In a Phase 3 clinical trial, L-glutamine demonstrated a significant reduction in SCD-related complications including vaso-occlusive crises (VOCs), hospitalizations, and acute chest syndrome (ACS) compared to placebo in patients with SCD. Objective: The primary objective was to confirm the efficacy of L-glutamine (Endari®) therapy in pediatric and adult patients with SCD at follow-up time points of 24, 48 and 72 weeks. Methods: In the observational study, nineteen patients with SCD were treated orally with L-glutamine twice daily for 72 weeks. Clinical and laboratory parameters were measured at baseline and follow-up time points. Patients with severe VOC and ACS were hospitalized. Blood transfusion was given in case of ACS and uncontrolled pain associated with VOC despite administration of the highest dose of intravenous (IV) narcotic. Results: Compared to baseline, patients had significantly fewer pain crises (median change from 3.0 to 0.0; P < 0.00001), hospitalizations (median change from 3.0 to 0.0; P < 0.00001), days of hospitalization (median change from 15.0 to 0.0; P < 0.00001), and blood transfusions (median change from 3.0 to 0.0; P < 0.00001) at 24, 48, and 72 weeks following L-glutamine therapy. Moreover, there was a drastic decrease in the number of ACS events during this time. A significant increase was observed in mean hemoglobin levels and hematocrit proportions from baseline to 72 weeks (P < 0.001). Conversely, compared to baseline, mean reticulocyte counts and lactate dehydrogenase (LDH) levels were considerably lower at follow-up time points (P = 0.003 and P < 0.001, respectively). No patient reported treatment-related adverse events. Conclusion: Although the sample size was small, our data clearly demonstrated that L-glutamine therapy was safe and significantly improved clinical outcomes and hemolysis parameters in patients with SCD.