[The transition of adolescents with sickle cell disease: an interdisciplinary exchange]. / La transition des adolescents drépanocytaires, un échange interdisciplinaire.

With the rising incidence of sickle cell disease, this chronic pathology is becoming the most common genetic disease in France. Advances in care have led to a marked improvement in life expectancy. Caregivers in pediatric facilities are therefore increasingly confronted with the question of the transition to adulthood of the adolescents they have been following since birth. As nurses working in Robert-Debré's transfusion and curative medicine unit, in 2022, adolescents accounted for 57 % of sickle cell patients enrolled in our transfusion exchange program. Adolescence is a period of major change, and the repercussions of the disease are all the more pronounced. This raises the issue of transferring them to the adult sector.

[A day in the pediatric day hospital: towards a successful transition]. / Une journée en hôpital de jour pédiatrique : vers une transition réussie.

Medical advances now enable children with chronic illnesses to live better and longer. As a result, the transition from adolescence to adulthood is increasingly being addressed in pediatric wards, with the aim of optimizing continuity of care. This was achieved at the pediatric day hospital at the Centre hospitalier intercommunal de Poissy-Saint-Germain-en-Laye, near Paris.

[Patient partnership: sharing experience in sickle cell vaso-occlusive crisis]. / Partenariat patient : partage d'expérience dans le cas d'une crise vaso-occlusive drépanocytaire.

The patient partnership is a new approach in which the patient, through his knowledge acquired from his experience with the disease, is a stakeholder in decisions about care, the organization of the health system and choices in terms of health policy. A team from the Blois hospital (41) was able to share the experience of a patient partnership during the analysis of a complex medical situation with a young man with sickle cell disease in a vaso-occlusive crisis. She reports here this new and enriching experience.

[Sexuality assessment of homozygous adult sickle cell patients with a history of priapism in Senegal]. / Évaluation de la sexualité des drépanocytaires adultes homozygotes ayant des antécédents de priapisme au Sénégal.

OBJECTIVES: The objective of this study was to evaluate the sexuality of SS sickle cell patients with a history of priapism. METHODS: This was a case-control study of adult SS sickle cell patients. The occurrence of priapism as well as the nature of the priapism had been investigated. The patients were subdivided into three groups: Group 1 (no priapism), Group 2 (intermittent priapism) and Group 3 (acute priapism). The patients' sexuality was studied using the IIEF-15 questionnaire. RESULTS: We interviewed 191 SS sickle cell patients. The mean age was 27.1±7.1 years. Priapism was observed in 43.5 %. Only 77 patients were eligible for the IIEF15 questionnaire. Groups 1 and 2 performed significantly better than group 3 on erectile function (EF) and orgasmic function (OF) scores. There was no significant difference in the EF and OF scores between groups 1 and 2. No significant difference was observed between the three groups for the scores of sexual desire (SD), intercourse satisfaction (IS), and overall satisfaction (OS). The impairment of erectile function in group 2 was related to the age of the first episode of priapism and the last episode. The impairment of erectile function in group 3 was related to the duration of evolution (P<0.05). CONCLUSION: This study shows that priapism is responsible for impaired erectile function in SS adult sickle cell patients. A program to prevent intermittent episodes of priapism should be put in place.

[Sickle cell disease, a genetic haemoglobin disease]. / La drépanocytose, une maladie génétique de l'hémoglobine.

Sickle cell disease is the number one genetic disease in France in terms of the number of children diagnosed each year in the neonatal period. Throughout their lives, people with sickle cell disease are likely to develop acute complications that require urgent treatment. Chronic complications are more common amongst adults than in children.

[Associations, key players in the sickle cell patient's journey]. / Les associations, acteurs incontournables dans le parcours du patient drépanocytaire.

The associations fighting against sickle cell disease contribute to the well-being of patients and their families by providing them moral, practical, financial, social and legal support. They provide information on the disease to patients and the public, notably through digital communication.

[Management of the adult with sickle cell disease]. / Prise en charge de l'adulte drépanocytaire.

Sickle cell disease is a chronic disease with multisystemic complications. Follow-up requires specialised and multidisciplinary care. The consultation allows for the screening of complications.

[Psychology and culture in sickle cell disease]. / Psychologie et culture dans la drépanocytose.

Sickle cell disease is a chronic pathology which can be expressed as early as the first few months of life. There are many psychological repercussions, linked to the effects of the disease itself, to its impact on the patients' relational life and, for some, to exile and cultural differences. Psychological support is useful for both the patient and his or her family, particularly at key moments in the treatment process.

[Long-term nursing care of the adult sickle cell patient]. / Accompagnement infirmier au long cours du patient drépanocytaire adulte.

Sickle cell disease is a genetic and chronic disease that requires multidisciplinary care. This requires investment on the part of both the patient and the entire health care team. In most cases, the sickle cell patient is diagnosed about two months after birth. The care pathway for adults is a continuation of the work done in paediatrics. The chronic nature of the disease means that patients are regularly admitted to hospital, which has an impact on their personal and professional lives. Appropriate nursing support helps to improve their daily lives.

[Pregnancy planning and follow-up of a pregnant woman with sickle cell disease]. / Projet de grossesse et suivi d'une femme enceinte porteuse de la drépanocytose.

Pregnancy is a high-risk situation in sickle cell patients, both for the mother and the foetus. It considerably increases the risk of an acute complication (vaso-occlusive crisis, acute chest syndrome, infection, thrombosis) of sickle cell disease. In addition, this condition increases the risk of placental vascular complications (in utero growth retardation, pre-eclampsia, retroplacental haematoma and in utero foetal death).

[Care pathway for the sickle cell child]. / Parcours de soins de l'enfant drépanocytaire.

The management of sickle cell disease, the leading genetic disease in France, has made immense progress in recent years thanks to the creation of reference centres and multidisciplinary expertise. Pediatric mortality has almost disappeared, but the disease is still burdened with significant morbidity. The challenge for the coming years is to reduce this morbidity in order to improve quality of life and prevent chronic diseases, which occur mainly in adults.

[The place of therapeutic education in the care of the sickle cell patient]. / Place de l'éducation thérapeutique dans le parcours de soins du patient drépanocytaire.

Therapeutic education is an integral part of the management of sickle cell patients. It includes the medical aspects but also the psychological, family and social repercussions of their chronic disease. It allows, at every stage of the patient's life, a care practice centred on the patient as a subject by offering him tools to become an effective actor of the management of complications, in the search for an acceptable quality of life.

Impact of sickle cell disease on presentation and progression of paediatric HIV: a retrospective cohort study.

OBJECTIVES: HIV and sickle cell disease (SCD) are significant causes of morbidity and mortality in sub-Saharan Africa. Given their separate roles in immune dysregulation, our objective was to characterise the impact that SCD has on the presentation and progression of paediatric HIV. METHODS: The study was a retrospective cohort study (study period 2004-2018). Cases of HIV + and SCD-afflicted patients (HIV+/SCD+) were obtained via electronic chart review from a paediatric HIV clinic in Kampala, Uganda and matched 1:3 with HIV + controls without SCD (HIV+/SCD-). RESULTS: Thirty-five HIV+/SCD + subjects and 95 HIV+/SCD- controls were analysed (39% female (51/130), age 3.6 years (SD3.9)). At baseline, WHO clinical stage (64% total cohort Stage III/IV) and nutritional status (9.4% severe acute malnutrition) were similar for both groups, whereas HIV+/SCD + had higher though non-significant baseline CD4 count (1036 (SD713) vs 849 (SD638) cells/microlitre, P = 0.20, two-tailed t-test). There were 19 deaths, 6 (17%) HIV+/SCD + and 13 (14%) HIV+/SCD-, with unadjusted/adjusted models showing no significant difference. Nutritional progression and clinical stage progression showed no significant differences between groups. Kaplan-Meier analysis showed a slower rate of treatment failures in the HIV+/SCD + cohort (P = 0.11, log-rank survival test). Trajectory analysis showed that in the time period analysed, the HIV+/SCD + cohort showed a more rapid rise and higher total CD4 count (P = 0.012, regression analysis). CONCLUSION: The study suggests that SCD does not adversely affect the progression of HIV in patients on ART. Further, HIV+/SCD + achieved higher CD4 counts and fewer HIV treatment failures, suggesting physiological effects due to SCD might mitigate HIV progression.

OBJECTIFS: Le VIH et la drépanocytose (SCD) sont des causes importantes de morbidité et de mortalité en Afrique subsaharienne. Compte tenu de leurs rôles distincts dans la dérégulation immunitaire, notre objectif était de caractériser l'impact du SCD sur la présentation et la progression du VIH pédiatrique. MÉTHODES: Etude de cohorte rétrospective (période d'étude 2004-2018). Les cas de patients VIH+ atteints de SCD (VIH+/SCD+) ont été obtenus par analyse des dossiers électroniques dans une clinique pédiatrique du VIH à Kampala, en Ouganda et appariés dans une proportion 1:3 avec des témoins VIH+ sans SCD (VIH+/SCD-). RÉSULTATS: 35 sujets VIH+/SCD+ et 95 témoins VIH+/SCD- ont été analysés (39% de femmes (51/130), 3,6 ans d'âge (SD3,9)). Au départ, le stade clinique de l'OMS (64% de la cohorte totale au stade III/IV) et l'état nutritionnel (9,4% de malnutrition aiguë sévère) étaient similaires pour les deux groupes, tandis que les VIH+/SCD+ avaient un nombre de CD4 de base plus élevé mais non significatif (1036 (DS, 713) vs 849 (DS, 638) cellules/microlitre, p = 0,20, test t bilatéral). Il y a eu 19 décès, 6 (17%) VIH+/SCD+ et 13 (14%) VIH+/SCD-, avec des modèles non ajustés/ajustés ne montrant aucune différence significative. La progression nutritionnelle et la progression du stade clinique n'ont montré aucune différence significative entre les groupes. L'analyse de Kaplan-Meier a montré un taux d'échecs de traitement plus lent dans la cohorte VIH+/SCD+ (p = 0,11, test de survie log-rank). L'analyse de la trajectoire a montré que dans la période analysée, la cohorte VIH+/SCD+ a montré une augmentation plus rapide et un nombre total de CD4 plus élevé (p = 0,012, analyse de régression). CONCLUSION: L'étude suggère que SCD n'affecte pas négativement la progression du VIH chez les patients sous ART. De plus, les patients VIH+/SCD+ ont atteint un nombre plus élevé de CD4 et moins d'échecs de traitement du VIH, ce qui suggère que les effets physiologiques dus à la SCD pourraient atténuer la progression du VIH.

[Effects of a standardized musical intervention on the management of pain and anxiety-state of sickle-cell adolescents]. / Effets d'une intervention musicale standardisée sur la gestion de la douleur et de l'anxiété-état des adolescents drépanocytaires.

The effect of a standardized musical intervention for adolescents with sickle cell disease was studied. Two groups were evaluated using the visual analog scale of pain and the anxiety-state inventory before and after a standardized musical intervention or breathing intervention. A significant decrease in scores was observed, most notably for the group benefiting from the standardized musical intervention. This intervention could be integrated into the overall management of adolescents with sickle cell disease.

Dysfunction of the auditory system in sickle cell anaemia: a systematic review with meta-analysis.

OBJECTIVES: To describe the occurrence of both peripheral and central auditory system dysfunction in sickle cell anaemia (SCA) patients and discuss the different mechanisms hypothesised to be responsible for these alterations. METHODS: An electronic search was conducted using PubMed Central® (MEDLINE), LILACS® and Scopus® databases. This systematic review was performed in accordance with the PRISMA statement. Original observational studies that utilised audiological tests for auditory system evaluations in SCA were included. RESULTS: A total of 183 records were found in the databases searched. Twenty-one of these studies met the inclusion criteria. Pooled prevalence of sensorineural hearing loss (SNHL) was 20.5% (CI: 10.3-33%). Retrocochlear involvement was detected with the auditory brainstem response, which assesses integrity of the cochlea, 8th cranial nerve and brainstem structures. In addition, the increase in otoacoustic emission amplitudes in SCA patients indicates changes in cochlear micromechanics and precedes the expression of a detectable cochlear pathology. CONCLUSION: The prevalence of the SNHL is higher than in the general population. Dysfunction of the auditory system may be present in SCA patients, with the most probable mechanism being the presence of circulatory disturbances resulting from the chronic inflammatory state of the disease.

DYSFONCTIONNEMENT DU SYSTÈME AUDITIF DANS L'ANÉMIE FALCIFORME: REVUE SYSTÉMATIQUE ET MÉTA-ANALYSE: OBJECTIFS: Décrire l'apparition de dysfonctionnements du système auditif périphérique et central chez les patients atteints d'anémie falciforme (AF) et discuter des différents mécanismes supposés responsables de ces altérations. MÉTHODES: Une recherche électronique a été effectuée dans les bases de données PubMed Central® (MEDLINE), LILACS® et Scopus® . Cette revue systématique a été réalisée conformément au PRISMA Statement. Des études observationnelles originales utilisant des tests audiologiques pour évaluer le système auditif dans l'AF ont été incluses. RÉSULTATS: Un total de 183 enregistrements ont été trouvés dans les bases de données consultées. Vingt et une de ces études répondaient aux critères d'inclusion. La prévalence poolée de la perte auditive neurosensorielle (SNHL) était de 20,5% (IC: 10,3% à 33%). L'atteinte rétrocochléaire a été détectée avec la réponse du tronc cérébral auditif, qui évalue l'intégrité de la cochlée, du huitième nerf crânien et de la structure du tronc cérébral. De plus, l'augmentation des amplitudes des émissions otoacoustiques chez les patients atteints de l'AF indique des modifications de la micromécanique cochléaire et précède l'expression d'une pathologie cochléaire détectable. CONCLUSION: La prévalence de la SNHL est plus élevée que dans la population générale. Un dysfonctionnement du système auditif peut être présent chez les patients AF, le mécanisme le plus probable étant la présence de troubles circulatoires résultant de l'état inflammatoire chronique de la maladie.

[Targeted newborn screening for sickle-cell anemia: Sickling test (Emmel test) boundaries in the prenatal assessment in West African area]. / Dépistage néonatal ciblé de la drépanocytose : limites du test de falciformation (test d'Emmel) dans le bilan prénatal en zone ouest africaine.

BACKGROUND: Newborn screening for sickle cell anemia is necessary in Africa where the disease is more frequent. Hemoglobin electrophoresis is used for screening, but is limited by a high cost and difficult access. Sickling test (Emmel test), which is more affordable and technically more accessible, is often requested for prenatal assessment of pregnant women in West African areas to reserve screening for newborns from mothers in whom the positive sickling test attests the presence of hemoglobin S. This study aims to evaluate the number of undetected sickle cell anemia newborns by a screening policy targeting only newborns from mothers in whom a sickling test would have been positive. METHODS: From 2010 to 2012, in Bamako, Mali, West Africa, 2489 newborns were routinely screened for sickle cell anemia at the umbilical cord or heel by isoelectrofocusing and, if necessary, by high-performance liquid chromatography. These newborns were born from 2420 mothers whose hemoglobin was studied by isoelectrofocusing. The data was recorded and processed using Excel software version 14.0.0. We calculated the frequency of the sickle cell gene in mothers and newborns as well as the number of SCA newborns from heterozygous or C homozygous mothers. RESULTS: Of the 2489 newborns, 16 had sickle cell anemia (6 SS and 10 SC); 198 had the sickle cell trait; 139 were AC and 1 was CC. Of the 10 newborns with SC profile, 3 were born from mothers not carrying the S gene but the C gene of hemoglobin and in which an Emmel test would have been negative. CONCLUSION: Targeted newborn screening, based on the results of sickling test in pregnant women, would misdiagnose more than one of six sickle cell anemia newborns who would not benefit from early care. Cost-effectiveness studies of routine newborn screening for sickle cell anemia should lead to a better screening strategy in contexts where hemoglobin S and other hemoglobin defect genes coexist.

[Priapism: Diagnosis and management]. / Le priapisme : diagnostic et prise en charge.

OBJECTIVE: Our aim was to present a synthesis on the diagnosis and treatment of priapism. METHODS: For this purpose, a literature search was performed through PubMed to analyze literature reviews and guidelines regarding priapism. RESULTS: Priapism is an erection that persists more than 4hours. There are 3 types of priapism: ischemic priapism, non-ischemic priapism and recurrent (stuttering) priapism. Ischemic priapism, often idiopathic, is the most frequent. When diagnosed, an urgent management is required to limit erectile dysfunction. Sickle-cell patients are prone to have ischemic and stuttering priapism. Non-ischemic priapism usually occurs after perineal trauma. Priapism management depends on the type of priapism. Medical treatment (corporal aspiration and injection of sympathomimetics) then if failed, surgery are indicated for ischemic priapism. The persistence of a non-ischemic priapism most likely requires a radiologic embolization. CONCLUSION: Priapism is a condition that often requires emergency treatment to spare erectile function. It appears crucial to know this condition and its management.

[Patient with homozygous sickle cell disease and free flap surgery: Ensuring the success of the procedure]. / Drépanocytose homozygote et nécessité d'une réparation par lambeau libre : comment assurer la réussite du projet thérapeutique.

Sickle cell anaemia is rare in France but frequent in Africa, leading to rigid, sickle-like shape red blood cells which bind together blocking microcirculation under certain circumstances. The vaso-occlusive crisis is the most frequent clinical manifestation especially in case of homozygous disease. Sickle cells disease is therefore usually considerated as a contraindication to microsurgery, however sometimes, a free flap procedure is mandatory. We here report the case of a 47-year-old man suffering with homozygous sickle cell anaemia and needing an antebrachial free flap procedure for a tongue reconstruction. The postoperative course was unremarkable apart from a delayed healing which is common in this particular localization. A review of the litterature allows to list the precautions to be taken to ensure a microsurgical procedure with this medical background. The preoperative examination has to assess usual sickle cell disease comorbidities such as kidney failure, heart failure or pulmonary hypertension. All the events leading to either low output syndrome, hypoxia, hypothermia, or a stress caused by uncontrolled pain should be avoided per- and postoperatively. With an optimum medical care, microsurgery is possible even in patients suffering with sickle cells anaemia. This case is rare in France but will become frequent in Africa with the improvement of the healthcare system, allowing to give all patients the best medical care.

Sickle cell disease in western Sudan: genetic epidemiology and predictors of knowledge attitude and practices.

OBJECTIVE: To investigate the epidemiology of sickle cell disease (SCD) and determinants of knowledge, attitudes and practices (KAP) towards SCD in western Kordofan State, Sudan. METHODS: A community-based, descriptive, cross-sectional study was conducted in three towns. Three hundred and seventy-two households were polled, and blood samples for haemoglobin phenotyping were collected from 1116 individuals. Sociodemographic, socio-economic and KAP data were collected using investigator-administered questionnaires. Descriptive, frequency distribution and multiple regression analyses were performed. RESULTS: About 50.9% of the study population were Misseriya tribes. Consanguineous marriages were reported by 67.5% of the households. The highest percentage of homozygous SCD was 2.8% among children under 5 years of age. About 24.9% were carriers of HbS allele (HbAS). HbS allele frequency was highest in children aged 5-11 years (18.3%, CI: 13.7-22.9%) and lowest in males >15 years old (12.0%, CI: 6.1-17.9%). The average HbS frequency across all age groups was 14.5% (95% CI: 12.2-16.8%). The most frequent ß-globin gene cluster haplotype was the Cameroon (30.8%), followed by the Benin (21.8%), the Senegal (12.8%) and the Bantu (2.2%) haplotypes. About 17.0% of all-cause child deaths were due to SCD. The estimated change in log odds of having the SS genotype per year increase in age was (-) 0.0058 (95% CI -0.0359, 0.0242). This represents a non-statistically significant 2.9% increase in 5-year mortality for individuals with the SS genotype relative to those with AS and AA genotypes. About 46.9% of the households had poor knowledge, 26.1% had satisfactory knowledge, and 26.9% had good knowledge about sickle cell disease. Mothers' and fathers' educational levels were significant predictors of good knowledge about SCD (P < 0.05). About 48.0% had a satisfactory attitude towards sickle cell disease while 30.7% had poor attitude and only 21.3 showed good attitudes. Poor knowledge about SCD and low socio-economic status were the strongest positive predictors of poor attitude and practices towards SCD (P < 0.01). CONCLUSIONS: Sickle cell disease is a major health problem in West Kordofan, Sudan. Knowledge, attitude and practices towards the disease are not satisfactory. The development of public health programs is highly recommended to control and manage SCD in western parts of Sudan.

[Leg ulcers in sickle cell disease: A retrospective study of 40 cases]. / Ulcères de jambe au cours de la drépanocytose: étude rétrospective de 40 cas.

BACKGROUND: In Africa, studies primarily devoted to chronic leg ulcer due to sickle cell disease are rare. The objectives of the study were to determine the epidemiology, diagnosis and progression of chronic leg ulcers in sickle cell disease. PATIENTS AND METHODS: A 5-year multicentre, retrospective study was conducted in three university hospitals in Dakar. We included all patients with chronic leg ulcers occurring in a setting of sickle cell disease. RESULTS: We identified 40 cases of chronic leg ulcers associated with sickle cell disease, representing 3.4% of the current population of sickle cell patients in our institutions. The average patient age was 25.9 years and the sex ratio was 2.33. Chronic leg ulcer was the presenting feature enabling diagnosis of sickle cell disease in one third of the cases. The average time to consultation from onset was 5.4 years. Pain was reported in 22 cases (48%). Ulcers were isolated in 76% and multiple in 24% of cases. The most common site was the medial malleolus (39%). A CBC allowed identification of anaemia in 35 cases. Haemoglobin electrophoresis was performed and homozygous sickle cell SS disease was identified in 39 cases and heterozygous SC disease in 1 case. Local treatments included physiologic serum, topical antibiotics and skin grafting. Systemic treatment included supplementation with folic acid in all patients, blood transfusion in 16 cases, vasodilators in 11 cases and antibiotics in 25 cases. The outcome was favourable in 61.8% of cases. DISCUSSION: In Dakar, sickle cell disease is a common cause of chronic leg ulcer and is frequently revealed by chronic leg ulcer.