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This study aimed to determine the prevalence of type 1 diabetes mellitus (T1DM) in French Guiana and describe the social profiles of the patients. We conducted a multicenter cross-sectional study of children under 18 years who were diagnosed with type 1 diabetes and followed up from 2002 to 2021. Over a 20-year period, 48 children under 18 years with type 1 diabetes living in French Guiana were included in the study, out of a total of 59 cases. There were 26 girls and 22 boys. The median age at diagnosis was 8.52 years [IQR 6–12]. The incidence rate was 5.9 per 100,000 people in children aged 0–18 years. The 5–9-year age group was the most affected 43.7% (95% CI 38–51%). Of these children, 56.2% (95% confidence interval 40–70%) lived in single-parent households, and 35% (95% CI 23–57%) of the parents had a primary education. Of the children, 29% (95% CI 21–42%) were from families with no resources. Diabetes was diagnosed by ketoacidosis in 56% (95% CI 38–74%) of the patients. Forty percent (95% CI 35–66%) of the patients had an HbA1c > 9%. There was an imbalance in the prevalence of children with higher Hba1c (>9%), with 18.7% (95% CI 10–29%, p < 0.001) of children whose parents had a low level of education having an Hba1c > 9% compared with only 6% (95% CI 3–10%) of children whose parents had a university degree, and a marked imbalance in the prevalence of children with High Hba1c (>9%) among children from single-parent families (22.9%, 95% CI 17–30%) compared with children whose parents lived in couples (8%, 95% CI 5–12%). The 10–14-year age group (18.7%, 95% CI 11–25%) had the highest imbalance in the prevalence of poor diabetes control between children whose parents had lower versus higher education levels. Diabetic retinopathy and diabetic nephropathy were the only reported complications. The multivariate analysis showed that a low level of parental education (Odds ratio 2.9 [95% CI 2.1–4.5], p < 0.001) and single-parent families (Odds ratio 3.1 [95% CI 2.6–4.3], p < 0.001) were predictors of poor control of T1DM. However, the lack of social insurance coverage at diagnosis was not associated with poor T1DM control (p = 0.4). In conclusion, these sociodemographic factors should be considered when caring for children with T1DM in French Guiana.

Background/Objectives: This study aimed to estimate the proportion of pediatric emergency admissions related to sickle cell disease. Methods: This is a cross-sectional study. The data were collected over a period of 9 years, from 1 January 2014 to 31 December 2022. Results: We recorded 858 emergency department visits related to sickle cell disease out of a total of 135,000 pediatric emergency department visits, giving a prevalence of 6.4 per 1000 children aged up to 18 years. The median age was 12 years (8–16) years. The average waiting time in the emergency department for children with sickle cell disease was 2 h (±1) in 2014 and 45 min (±15) in 2022. Children with sickle cell anemia were more likely than others to have been seen by a consultant in an emergency department. The most commonly associated pathology was asthma, with a frequency of 17%. The risk factors for hospitalization were an age between 5 and 10 years and a severe form of sickle cell disease. Conclusions: The treatment of pain and fever were often delayed. This leads us to suggest that systematic prior communication between the pediatric hematologist and the emergency physician is crucial. However, there is a need to define best practices for the management of children with sickle cell disease presenting to the emergency department with a fever.

Cardiac amyloidosis (CA) is a potentially fatal systemic disease that has received increasing attention in recent years. However, there is no data on its epidemiology in French Guiana. This study aimed to evaluate the epidemiological characteristics of cardiac amyloidosis and describe the regional diagnostic pathways in French Guiana. We performed a multicenter retrospective study of Guianese patients with confirmed or suspected cardiac amyloidosis who were followed up in hospitals in French Guiana by private cardiologists. A total of 47 patients were included. The study population was predominantly male (n = 29, 61.7%). The mean age of the population was 72.8 years (SD = 12.2). Most patients were from the island of Cayenne (n = 34, 72.3%), had at least one cardiovascular risk factor (n = 32, 68.1%), and more than half had extracardiac amyloid involvement (n = 25, 53.2%). More than half of the patients were hospitalized at a reference center outside French Guiana (29, 61.7%), mainly at Henri Mondor Hospital (n = 20, 69%) and Martinique (n = 6, 20.7%). Bone scintigraphy was performed in 27 patients (57.5%) and hyperfixation was observed in 25 patients (93%). Anatomopathological examinations were performed in 33 patients (70.2%). Amyloid typing of the biopsied tissue revealed predominantly ATTR (n = 14, 62.6%), AL amyloidosis (n = 1, 4.5%), and AA amyloidosis (4.5%). Among the ATTR amyloidoses, we found mainly ATTRm (n = 22, 75.8%). Genetic mutation testing was performed in approximately half of the patients (n = 25, 51.1%), mostly for the VAL122ILE mutation (n = 21, 84%), and in one case for the IL107VAL mutation (4%). Of the patients with ATTR amyloidosis, 22 (75.9%) were treated with tafamidis. Of the included patients, 18 (38.3%) died. The median overall survival (OS) was 38 months. Survival analysis from the date of diagnosis showed a probability of survival at 30 days, one year, 1.5 years and 4 years of 97% (95% confidence interval [CI]: 90-100), 68% (95%CI 55-84)), 64% (95%CI 51-79)), 32% (95%CI 29-41)), respectively. This study provides the first information on the diagnostic pathway for cardiac amyloidosis in French Guiana. The increasing proportion of undiagnosed patients has led us to create a French Guianese Amyloidosis Team to simplify the diagnostic pathway by focusing on cardiac MRI and biopsy, which can be performed locally. This is particularly important, as current and future therapeutic advances mean that more effective treatments are on the horizon.

Cardiac amyloidosis (CA) is a potentially fatal systemic disease that has received increasing attention in recent years. However, there is no data on its epidemiology in French Guiana. This study aimed to evaluate the epidemiological characteristics of cardiac amyloidosis and describe the regional diagnostic pathways in French Guiana. We performed a multicenter retrospective study of Guianese patients with confirmed or suspected cardiac amyloidosis who were followed up in hospitals in French Guiana by private cardiologists. A total of 47 patients were included. The study population was predominantly male (n = 29, 61.7%). The mean age of the population was 72.8 years (SD = 12.2). Most patients were from the island of Cayenne (n = 34, 72.3%), had at least one cardiovascular risk factor (n = 32, 68.1%), and more than half had extracardiac amyloid involvement (n = 25, 53.2%). More than half of the patients were hospitalized at a reference center outside French Guiana (29, 61.7%), mainly at Henri Mondor Hospital (n = 20, 69%) and Martinique (n = 6, 20.7%). Bone scintigraphy was performed in 27 patients (57.5%) and hyperfixation was observed in 25 patients (93%). Anatomopathological examinations were performed in 33 patients (70.2%). Amyloid typing of the biopsied tissue revealed predominantly ATTR (n = 14, 62.6%), AL amyloidosis (n = 1, 4.5%), and AA amyloidosis (4.5%). Among the ATTR amyloidoses, we found mainly ATTRm (n = 22, 75.8%). Genetic mutation testing was performed in approximately half of the patients (n = 25, 51.1%), mostly for the VAL122ILE mutation (n = 21, 84%), and in one case for the IL107VAL mutation (4%). Of the patients with ATTR amyloidosis, 22 (75.9%) were treated with tafamidis. Of the included patients, 18 (38.3%) died. The median overall survival (OS) was 38 months. Survival analysis from the date of diagnosis showed a probability of survival at 30 days, one year, 1.5 years and 4 years of 97% (95% confidence interval [CI]: 90-100), 68% (95%CI 55-84)), 64% (95%CI 51-79)), 32% (95%CI 29-41)), respectively. This study provides the first information on the diagnostic pathway for cardiac amyloidosis in French Guiana. The increasing proportion of undiagnosed patients has led us to create a French Guianese Amyloidosis Team to simplify the diagnostic pathway by focusing on cardiac MRI and biopsy, which can be performed locally. This is particularly important, as current and future therapeutic advances mean that more effective treatments are on the horizon.

Background In utero exposure to Zika virus (ZIKV) is known to be associated with birth defects. The impact of in utero ZIKV exposure on neurodevelopmental outcomes in early childhood remains unclear. The objective of this study was to determine the impact of in utero ZIKV exposure on neurodevelopment at 24 months of age among toddlers who were born normocephalic to women who were pregnant during the 2016 ZIKV outbreak in French territories in the Americas. Methods We conducted a population-based mother-child cohort study of women whose pregnancies overlapped with the 2016 ZIKV epidemic in Guadeloupe, Martinique, and French Guiana. Infants were included in this analysis if maternal ZIKV infection during pregnancy could be determined, the newborn had a gestational age ≥ 35 weeks, there were no abnormal transfontanelle cerebral ultrasound findings after delivery or no abnormal ultrasound findings on the last ultrasound performed during the third trimester of the mother’s pregnancy, there was an absence of microcephaly at birth, and the parent completed the 24-month neurodevelopment assessment of the infant at 24 months (± 1 month) of age. ZIKV exposure of the toddler was determined by evidence of maternal ZIKV infection during pregnancy. Neurodevelopment assessments included the Ages and Stages Questionnaire (ASQ) for five dimensions of general development—communication, gross motor, fine motor, problem solving, and personal-social skills; the Modified Checklist for Autism on Toddlers (M-CHAT) for behavior; and the French MacArthur Inventory Scales (IFDC) for French language acquisition. Results Between June 2018 and August 2019, 156 toddlers with and 79 toddlers without in utero ZIKV exposure completed neurodevelopment assessments. Twenty-four (15.4%) ZIKV-exposed toddlers and 20 (25.3%) ZIKV-unexposed toddlers had an ASQ result below the reference − 2SD cut-off ( P  = 0.10) for at least one of the five ASQ dimensions. Conclusion In one of the largest population-based cohorts of in utero ZIKV-exposed, normocephalic newborns to date, there were minimal differences apparent in neurodevelopment outcomes at 24 months of age compared to ZIKV-unexposed toddlers at 24 months of age. Trial registration ClinicalTrials.gov, NCT02810210 . Registered 20 June 2016.

The aim of our study was to assess the efficacy of red blood cell exchange (RBCx) using a Spectra Optia® automated apheresis system in children with sickle cell disease (SCD). We used automated RBCx to treat acute and chronic complications in 75 children with SCD who had a median age of 10 years [7–13]. We analyzed 649 RBCx sessions. Peripheral venous access was limited in a number of the children, and thus a femoral double-lumen central venous catheter was required. We recommend heparin locking with 500 units in each lumen of the catheter. To prevent complications, we ensured that all patients had achieved a post-RCE HbS level of < 30%. For chronic transfusion, with a post-RCE Hb level of approximately 10–11 g/dL, a blood exchange volume of ≥ 32 mL/kg, and an interval between each RBCx procedure of ≤ 30 days, the residual HbS level was maintained below 30%. For acute transfusion, a post-exchange Hb level ≥ 10 g/dL (p < 0.001) and a total exchange volume ≥ 35 mL/kg (p = 0.001) were the best way to reduce HbS to < 30%. AUC was 0.84. Our results show that erythrocytapheresis was useful and safe for children with SCD.

In order to compute the continuum of care for French Guiana, it is necessary to estimate the total number of persons living with HIV. The main objective was to determine how many persons were infected with HIV and how many were unaware of it. We used 2 different models to calculate the total number of persons infected with HIV: Spectrum's AIM module using CSAVR to compute incidence from case registration and vital statistics; and the ECDC model from the French Guiana HIV cohort data. The present results show that both models led to similar results regarding the incident number of cases (i.e. for 2016 174 versus 161) and the total HIV population (in 2016 3206 versus 3539) respectively. The ECDC modeling tool showed that the proportion of undiagnosed HIV infections declined from 50% in 1990 to 15% in 2015. This amounted to a stable or slightly increasing total number of undiagnosed patients of 520. The estimations of the total HIV population by both models show that the HIV population is still growing. The incidence rate declined in 2000 and the decline of the number of newly acquired HIV infections, after a decline after 2003 is offset by population growth. The proportion of undiagnosed infections has declined to 15% but the number of undiagnosed infections remains stable. The HIV cascade shows that despite good results for treatment in care, reaching the 90*90*90 UNAIDS target may be difficult because a significant proportion of patients are lost to follow-up.

Objectives This cross-sectional study aimed to investigate the influence of haplotypes, alpha-gene status and UGTA1 polymorphism on the severity of sickle cell disease in children. Methods This cross-sectional study was conducted between 2012 and 2014 at the Cayenne Hospital, in French Guiana. Acute clinical complications were grouped into (i) severe SCD defined by the presence of stroke and/or abnormal-transcranial Doppler (TCD), (ii) moderate SCD defined by the presence of at least three annual events requiring hospitalization and/or at least one acute chest syndrome, (iii) no severe SCD (in the absence of the precited events). Results Among the 86 patients, 33.7% were female with a median age of 10 years (range: 6–12 years). The vast majority of patients had SCA (HbSS) phenotype (74.4%; n = 64). The severe haplotype was found in 40% of patients. 30% were BEN/BEN. Analysis of α-globin gene deletions revealed that 32 patients (37.2%) were heterozygous (loss of 2 genes in 2 cases and loss of 1 gene in 30 cases) for α-thalassemia (3.7 kb deletion). Homozygous (TA) n TA7/7 was found in 24 (28%). In the multivariate analysis, the factors associated with the severity of sickle cell disease were the first vaso-occlusive crisis before one year of age (OR 25, [95% CI = 6.0–107.0], p<0.001) and a baseline MCV >80 fL (OR 0.20 [95% CI = 0.04–0.96], p = 0.04). The area of the ROC curve was 0.90. Conclusion Prospective studies with greater statistical power would provide more knowledge on the relationship between UGT1A1 mutations and the clinical and hematological manifestations of SCA.

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. 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. 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] × 10 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] × 10 cells/L; LDH levels: -344.80 [274.63] U/L). 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.

Here we report a case of developmental and epileptic encephalopathy related to RHOBTB2 gene mutation in a ten‐month old infant in French Guiana. Although the 28 previously reported cases had early‐onset epilepsy and severe intellectual disability, here the reported individual presented with late postnatal onset of microcephaly and the absence of cortical atrophy on MRI. The publication of cases of such a rare form of developmental and epileptic encephalopathy will eventually allow us to better understand the mechanism by which RHOBTB2 misregulation could induce severe and atypical neurological disorders.