T1DiabetesGranada: a longitudinal multi-modal dataset of type 1 diabetes mellitus.

Type 1 diabetes mellitus (T1D) patients face daily difficulties in keeping their blood glucose levels within appropriate ranges. Several techniques and devices, such as flash glucose meters, have been developed to help T1D patients improve their quality of life. Most recently, the data collected via these devices is being used to train advanced artificial intelligence models to characterize the evolution of the disease and support its management. Data scarcity is the main challenge for generating these models, as most works use private or artificially generated datasets. For this reason, this work presents T1DiabetesGranada, an open under specific permission longitudinal dataset that not only provides continuous glucose levels, but also patient demographic and clinical information. The dataset includes 257 780 days of measurements spanning four years from 736 T1D patients from the province of Granada, Spain. This dataset advances beyond the state of the art as one the longest and largest open datasets of continuous glucose measurements, thus boosting the development of new artificial intelligence models for glucose level characterization and prediction.

Diabetes neonatal: implicaciones de la genética en el tratamiento / Neonatal diabetes: genetic implications in treatment

Neonato de 2 meses de edad diagnosticado de diabetes en el que se inició cetoacidosis con anticuerpos contra antígenos del islote negativos. En el estudio genético, se detectó la mutación R201C en el gen KCNJ11. En los últimos años se ha estudiado el cuadro de diabetes neonatal permanente debido a una mutación del gen KCNJ11 que codifica la subunidad Kir6.2 del canal del potasio sensible al adenosintrifosfato (KATP). Las mutaciones de Kir6.2 producen en última instancia una hiperpolarización de la membrana y la imposibilidad de secretar insulina al mantenerse los KATP permanentemente abiertos. Estudios recientes demuestran la efectividad de las sulfonilureas en el tratamiento. Las sulfonilureas se unen a la subunidad del receptor de sulfonilureas SUR1 y cierran el canal de forma independiente del ATP, de este modo restauran la secreción de insulina. Esta indicación no está aprobada debido a la falta de estudios de seguridad a largo plazo en lactantes; sin embargo, nos hace reflexionar sobre la importancia de la genética en la etiología y las implicaciones en su tratamiento El mielolipoma adrenal es un tumor benigno, poco frecuente, compuesto por tejido adiposo maduro y elementos hematopoyéticos diversos. Su hallazgo suele ser incidental, aunque en ocasiones pueden alcanzar gran tamaño y causar dolor abdominal y otros síntomas clínicos. La ecografía y la tomografía computarizada son herramientas útiles en su diagnóstico. Los tumores pequeños (< 6 cm) y asintomáticos pueden tratarse de forma conservadora con vigilancia periódica y los > 6 cm o con síntomas pueden precisar tratamiento quirúrgico. Presentamos un caso de mielolipoma adrenal gigante y a continuación se realiza una revisión de la literatura (AU)

A 2-month-old newborn was diagnosed with diabetes mellitus presenting with ketoacidosis and negative islet antibodies. Genetic study revealed the R201C mutation of the KCNJ11 gene. In the last few years, the heterozygous activating mutation in KCNJ11 encoding the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channel has been shown to cause permanent neonatal diabetes. Diabetes results from impaired insulin secretion caused by failure of the beta cell-KATP channel to close in response to increased intracellular ATP. Recent studies have demonstrated the effectiveness of oral sulfonylurea in the treatment of this disease. Sulfonylurea closes the KATP channel by an ATP-independent route. Treatment with sulfonylurea in permanent neonatal diabetes has not yet been approved due to the lack of long-term studies in infants. However, the present case illustrates the importance of genetics to identify patients who may benefit from treatment (AU)

Neonatal diabetes: genetic implications in treatment.

A 2-month-old newborn was diagnosed with diabetes mellitus presenting with ketoacidosis and negative islet antibodies. Genetic study revealed the R201C mutation of the KCNJ11 gene. In the last few years, the heterozygous activating mutation in KCNJ11 encoding the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP)) channel has been shown to cause permanent neonatal diabetes. Diabetes results from impaired insulin secretion caused by failure of the beta cell-K(ATP) channel to close in response to increased intracellular ATP. Recent studies have demonstrated the effectiveness of oral sulfonylurea in the treatment of this disease. Sulfonylurea closes the K(ATP) channel by an ATP-independent route. Treatment with sulfonylurea in permanent neonatal diabetes has not yet been approved due to the lack of long-term studies in infants. However, the present case illustrates the importance of genetics to identify patients who may benefit from treatment.