RESUMO
Insulin pumps and glucose sensors have been shown to be effective in improving diabetes treatment and reducing acute complications according to data from registries. Therefore, in pediatric diabetology the use of at least one technical device is standard. Both devices can also be combined to form automated insulin delivery (AID) systems.Many AID systems have been tested in clinical trials and have proven to be safe and effective. The supply situation in Germany currently only allows one system to be prescribed for people insured by the statutory health insurances. Currently, children younger than 7 years of age cannot be treated with this system. The reasons for this are legal hurdles and lack of certification by the manufacturers. The CE certification can also lead to problems with insulin prescriptions. Open-source systems are non-regulated variants to circumvent existing regulatory conditions. There are risks here for both users and prescribers.For permanent use a thorough knowledge of the features of each AID system is necessary for both the user and the practitioner. Complete automation does not yet work. For the evaluation of the AID treatment, the metric data of the glucose sensors, the time in range and the glucose management index are the recognized and suitable parameters, because they allow a consultation based on real data from the daily life of people with diabetes.As all glucose sensors are read out via cloud-based software or the data are obtained directly and automatically from a telephone-linked receiver device, this provides the ideal technical basis for telemedical care, which still needs to be configured.
RESUMO
CONTEXT: Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. OBJECTIVE: To assess the frequency of pathogenic ACAN variants in selected individuals. DESIGN: The single-center cohort study was conducted at a tertiary university children's hospital. From 51 unrelated patients with ISS, the 16 probands aged between 3 and 18 years (12 females) with advanced bone age and/or autosomal dominant inheritance pattern of short stature were selected for the study. Fifteen family members of ACAN-positive probands were included. Exome sequencing was performed in all probands, and additional copy number variation (CNV) detection was applied in selected probands with a distinct ACAN-associated phenotype. RESULTS: Systematic phenotyping of the study cohort yielded 37.5% (6/16) ACAN-positive probands, with all novel pathogenic variants, including a 6.082 kb large intragenic deletion, detected by array comparative genomic hybridization (array CGH) and exome data analysis. All variants were co-segregated with short stature phenotype, except in one family member with the intragenic deletion who had an unexpected growth pattern within the normal range (-0.5 SDS). One patient presented with otosclerosis, a sign not previously associated with aggrecanopathy. CONCLUSIONS: ACAN pathogenic variants presented a common cause of familial ISS. The selection criteria used in our study were suggested for a personalized approach to genetic testing of the ACAN gene in clinical practice. Our results expanded the number of pathogenic ACAN variants, including the first intragenic deletion, and suggested CNV evaluation in patients with typical clinical features of aggrecanopathy as reasonable. Intra-familial phenotypic variability in growth patterns should be considered.