ABSTRACT
Background and aim Myotonic dystrophy (DM) is a genetic disorder determined by an amplified trinucleotide CTG repeat in the untranslated region of the DMPK gene on chromosome 19q13.3. The incidence of the congenital form is 1 in 47619 live births and the mortality in the neonatal period is up to 40%. Methods: We report a case of congenital DM (CDM, also designated Myotonic Dystrophy Type 1), presented with congenital right diaphragmatic hernia and cerebral bilateral ventricular dilatation, genetically diagnosed. Conclusions: Since no case of congenital diaphragmatic hernia associated with CDM is reported, the present case report could be considered of particular interest.
Subject(s)
Hernias, Diaphragmatic, Congenital , Myotonic Dystrophy , Humans , Infant, Newborn , Hernias, Diaphragmatic, Congenital/genetics , Myotonic Dystrophy/complications , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/geneticsABSTRACT
BACKGROUND: Two vaccines against SARS-CoV-2 are approved by the World Health Organization (WHO) for minors aged 12 years and over. Currently, people with both type 1 diabetes (T1D) and type 2 diabetes (T2D) are prioritized for vaccination. OBJECTIVE: To evaluate possible glycemic control modification, insulin dose adjustment and adverse effects after COVID-19 vaccination in young T1D individuals, users of different technology levels. METHODS: Thirty-nine T1D individuals, who received a whole vaccination cycle of either Moderna or Pfizer- BioNTech vaccines, were enrolled, 24 of whom using advanced hybrid closed loop systems (AHCLs) and 15 using intermittently scanned continuous glucose monitoring (isCGM). Symptoms after each dose and the following variables were considered: time in range 70-180 mg/dl (TIR), time in different glucose ranges, mean glucose levels, coefficient of variation (CV), total daily dose (TDD) and bolus proportion RESULTS: No significant differences in TIR, time in different glucose ranges, mean glucose levels, TDD, bolus proportion, were observed before and after any dose nor before and after the whole vaccination cycle. CV was significantly lower after the whole vaccination cycle (CV pre-vaccination 35.1 ± 6.9% vs. CV post-vaccination 33.5 ± 6.3%; p 0.031) in subjects treated by AHCLs. Side effects after the vaccination were mild and more frequent after the second dose. No severe adverse reactions were reported. CONCLUSIONS: COVID-19 vaccination was safe and not associated with significant perturbation of glycemic control in adolescents and young adults with T1D. This information could be of clinical use when counseling families about SARS-CoV-2 vaccination in young people with T1D.
