ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children

Universal neonatal screening is performed in the United States, England, the Netherlands, and several cities in Belgium, with selective screening targeted on "high-risk" population in France (globally, one quarter of all the babies born in France are screened). Newborns diagnosed with a major sickle cell syndrome (SCD) should be referred to a designated pediatric sickle cell centre, and the parents are informed that their child has SCD; this may be in the sickle cell centre by an expert physician or in the community by an experienced nurse counsellor. The pediatric sickle cell centre should organize the care of the baby.     

Rapid deployment of a telemedicine care model for genetics and metabolism during COVID‐19

The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID‐19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on initial and follow‐up visits in the patients' home. The goals were to increase access to care, decrease missed work, improve scheduling, and avoid the transport and exposure of medically fragile patients. Visits were conducted by physician medical geneticists, genetic counselors, and biochemical dietitians, together and separately. This allowed the program to develop detailed standard operating procedures. At the onset of the COVID‐19 pandemic, this pilot‐program was deployed by the full team of 22 providers in one business day. Two physicians remained on‐site for patients requiring in‐person evaluations. This model optimized patient safety and workforce preservation while providing full access to patients during a pandemic. We provide initial data on visit numbers, types of diagnoses, and no‐show rates. Experience in this implementation before and during the pandemic has confirmed the effectiveness and value of telemedicine for a highly complex medical population. This program is a model that can and will be continued well‐beyond the current crisis.     

Review shows that implementing a nationwide protocol for congenital diaphragmatic hernia was a key factor in reducing mortality and morbidity

The French Rare Disease Reference Center for congenital diaphragmatic hernia (CDH) was created in 2008, to implement a national protocol for foetuses and children with this serious condition. Neonatal mortality from CDH is 30‐40%, mainly due to pulmonary hypoplasia and persistent pulmonary hypertension, and half of those who live have high respiratory, nutritional and digestive morbidity. CDH management requires long‐term and specialised multidisciplinary care. It has been well established that a standardised management protocol improves the prognosis of children with CDH.

Conclusion

Organising health care and implementing a nationwide French protocol were key factors for reducing mortality and morbidity from CDH.     

Automated radiosynthesis of the adenosine A2A receptor-targeting radiotracer [18F]FLUDA

[¹⁸F] FLUDA is a selective radiotracer for in vivo imaging of the adenosine A_2A receptor (A_2AR) by positron emission tomography (PET). Promising preclinical results obtained by neuroimaging of mice and piglets suggest the translation of [¹⁸F] FLUDA to human PET studies. Thus, we report herein a remotely controlled automated radiosynthesis of [¹⁸F] FLUDA using a GE TRACERlab FX2 N radiosynthesizer. The radiotracer was obtained by a one-pot two-step radiofluorination procedure with a radiochemical yield of 9±1%, a radiochemical purity of ≥99%, and molar activities in the range of 69–333 GBq/μmol at the end of synthesis within a total synthesis time of approx. 95 min (n = 16). Altogether, we successfully established a reliable and reproducible procedure for the automated production of [¹⁸F] FLUDA.     

儿童罕见病诊疗同质化管理模式专家建议

儿童罕见病具有患病率低、发病机制复杂、病种多样、难诊难治等特点。随着医疗事业的发展,罕见病诊治技术取得了长足进步,但罕见病诊疗同质化管理体系的建立及推广因各层级医疗资源不对称仍存在诸多不足。为进一步规范儿童罕见病诊疗管理同质化,实现早期精准诊治,改善患儿生存质量,天津市儿童医院(天津大学儿童医院)罕见病诊疗中心邀请相关领域专家从信息建设、层级诊疗、人才培养、科学普及、多方参与等方面撰写了儿童罕见病诊疗同质化管理模式的建议,为儿童罕见病临床诊疗管理体制建设区域同质化提供参考。[中国当代儿科杂志,2023,25 (7):663-671]     

A prospective protocol for nasopharyngeal carcinoma in children and adolescents: the Italian Rare Tumors in Pediatric Age (TREP) project

BACKGROUND:

Nasopharyngeal carcinoma (NPC) is very rare in childhood. It differs from its adult counterpart in the prevalence of the nonkeratinizing, undifferentiated subtype and by an advanced clinical stage at onset and better chances of survival. The risk of long‐term treatment‐related toxicity also may be a more important issue in younger individuals.

METHODS:

A prospective chemoradiotherapy protocol for pediatric NPC was started in Italy in 2000 within the framework of the Rare Tumors in Pediatric Age (TREP) project. Three courses of cisplatin/5‐fluorouracil induction chemotherapy were followed by radiotherapy (doses up to 65 grays) with concomitant cisplatin.

RESULTS:

Forty‐six patients (ages 9‐17 years) were considered eligible for the study over a 10‐year period. The ratio of observed to expected cases based on epidemiological data was approximately 1 for both children and adolescents. All but 1 patient had lymph node involvement, and 5 patients had distant metastases. The rate of response to primary chemotherapy was 90%. The 5‐year overall and progression‐free survival rates were 80.9% and 79.3%, respectively (median follow‐up, 62 months). The only statistically significant prognostic variable was the presence or absence of distant metastases. A 65% incidence of late sequelae was reported.

CONCLUSIONS:

This study demonstrates the feasibility and efficacy of a prospective protocol even for such rare tumors as pediatric NPC. The use of lower radiotherapy doses than those used in adults did not affect locoregional failure rates. Long‐term follow‐up will be needed to obtain more information on both survival and treatment sequelae. The next objective will be to establish broader, international prospective cooperation schemes. Cancer 2011. © 2011 American Cancer Society.