Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatment

The nucleoside analogue, 2-chlorodeoxyadenosine (2CDA), was reported to be an active treatment for childhood Langerhans cell histiocytosis (LCH) without risk organ (RO−) involvement. However, we lack data on long-term effects of 2CDA treatment, including the disease reactivation rate, permanent sequelae and long-term tolerance. This study included 44 children from the French LCH registry, treated for a RO− LCH with 2CDA monotherapy (median number of six courses). The median age at the beginning of 2CDA was 3·6 years (range, 0·3–19·7 years) and the median follow-up after was 5·4 years (range, 0·6–15·1 years). Objective response to 2CDA was observed in 25 patients (56·8%), while six patients (13·6%) had stable disease and 13 patients (29·5%) exhibited progressive disease. Among patients without progression, only two experienced disease reactivation after 2CDA discontinuation. The five-year cumulative incidence of disease progression or reactivation after 2CDA therapy initiation was 34·3%. The lymphopenia reported in all cases [72% below absolute lymphocyte count (ALC) of 0·5 G/l], was addressed with appropriate prophylactic measures. Other toxicities above grade 2 were uncommon, and no second malignant neoplasm or neuropathy was reported. The five-year overall survival was 97·7%. In conclusion, we could confirm that 2CDA monotherapy was a beneficial long-term therapy for treating patients with RO− LCH. Appropriate management of induced immune deficiency is mandatory.     

Overbite depth indicator and anteroposterior dysplasia indicator cephalometric norms for African Americans

Objectives:To examine normal Overbite Depth Indicator (ODI) and Anteroposterior Dysplasia Indicator (APDI) values in African Americans and to compare them with mean values from white patients. Secondary aims were to compare mean ODI and APDI values among different age, gender, and combined age-gender groups in African American patients.Materials and Methods:Lateral cephalometric radiographs of 160 African American patients (97 boys and 63 girls; age, 7 to 14 years) with normal occlusion and no history of orthodontic treatment were collected from the Bolton-Brush Growth Center. Cephalometric images were hand traced, and ODI and APDI values were assessed. Two-sample t tests were used to compare mean ODI and APDI values between African American and white patients; and between male and female African American patients. One-way analysis of variance, followed by the Tukey test, was used to compare mean ODI and APDI values among different African American age and combined age-gender groups.Results:Mean ODI and APDI values were significantly lower (P < .0001) in African American than white patients with normal occlusion and no history of orthodontic treatment. Mean ODI and APDI values increased with age in African American patients, and there were no significant gender differences.Conclusions:The mean ODI and APDI values in 7- to 14-year-old African Americans with normal occlusion and no history of orthodontic treatment were 70.9° and 78.1°, respectively, and were significantly lower than the mean values for white patients in the same age range.     

Antepartum Screening for Group B Streptococcus by Three FDA-Cleared Molecular Tests and Effect of Shortened Enrichment Culture on Molecular Detection Rates

Neonatal Streptococcus agalactiae infections cause significant morbidity and mortality, and antenatal screening is recommended. We compared three U.S. Food and Drug Administration (FDA)-cleared nucleic acid amplification tests (NAATs) to culture using 314 vaginal/rectal swabs after 18 to 24 h (recommended period) and 4 to 8 h (shortened period) of broth enrichment. Agreement of the NAATs with each other was high (97.1% to 98.4%), but culture was less sensitive than all NAATs (67% to 73%). A shortened period of broth culture enrichment resulted in 1 false-negative result in 68 (1.5%). The NAATs performed comparably and were more sensitive than culture.     

Diabetes and COVID-19 in Congolese patients

BackgroundThe global pandemic Coronavirus Disease 2019 (COVID-19) due to the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) is reported to be potentially severe in patients with morbid conditions. One common reported comorbidities is diabetes. We aimed in this study to precise the clinical characteristics and outcomes in a series of congolese diabetic patients affected by COVID-19 infection.Patients and methodsWe retrospectely studied from 256 COVID-19 patients, a cohort of 30 persons with previously known diabetes. The glycaemia controls have been obtained by plasma glucose assay. All patients have been tested positive to SARS-CoV-2 by RT-PCR method.ResultsThe COVID-19 diabetic patients represented 11,7% of all COVID-19 patients with confidence interval of 95% [7,77–15,65]. Older individuals and male sex were predominent. Dyspnea and sauration of oxygen < 90 were significatives and added risk factors were noted in 63.3% of patients, particulary hyperglycaemia with hypertension or obesity. The mortality rate at the percentage of 36.7% was more prevalent in patients with added comorbidities (30%) versus without comorbidities (6.7%).ConclusionCongolese COVID-19 diabetic patients of male sex and older age exhibiting arterial hypertension and obesity are the most exposed to severe COVID-19 and increasead mortality rate.     

A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours

Background

Although most gastrointestinal stromal tumours (GIST) carry oncogenic mutations in KIT exons 9, 11, 13 and 17, or in platelet-derived growth factor receptor alpha (PDGFRA) exons 12, 14 and 18, around 10% of GIST are free of these mutations. Genotyping and accurate detection of KIT/PDGFRA mutations in GIST are becoming increasingly useful for clinicians in the management of the disease.

Method

To evaluate and improve laboratory practice in GIST mutation detection, we developed a mutational screening quality control program. Eleven laboratories were enrolled in this program and 50 DNA samples were analysed, each of them by four different laboratories, giving 200 mutational reports.

Results

In total, eight mutations were not detected by at least one laboratory. One false positive result was reported in one sample. Thus, the mean global rate of error with clinical implication based on 200 reports was 4.5%. Concerning specific polymorphisms detection, the rate varied from 0 to 100%, depending on the laboratory. The way mutations were reported was very heterogeneous, and some errors were detected.

Conclusion

This study demonstrated that such a program was necessary for laboratories to improve the quality of the analysis, because an error rate of 4.5% may have clinical consequences for the patient.