Background Vitamin D is involved in calcium homeostasis and bone metabolism, although its extra-skeletal actions are also well-known. Low serum 25(OH)D levels are common both in adults and children worldwide. Methods The purpose of this cross-sectional study was to determine the distribution of 25(OH)D levels in a cohort of healthy Italian school-age children, aged 5–10 years, in relationship to determinants of vitamin D deficiency such as season, BMI, gender, age and ethnicity. Results The mean serum 25(OH) D level was 28.2 ng/mL; the prevalence of 25(OH)D sufficiency (> 30 ng/mL), insufficiency (20–30 ng/mL), deficiency (10–20 ng/mL) and severe deficiency (< 10 ng/mL) was 36%, 37%, 21% and 6% of the study-group population, respectively. The lower serum 25(OH)D values were observed during winter (21.6 ng/mL) and spring (22.9 ng/mL), as compared to summer (46.7 ng/mL) (p < 0.001). Higher BMI z-scores were associated with lower 25(OH)D level while no statistical difference was observed as related to gender and age groups. Conclusions Healthy Italian schoolchildren show low 25(OH)D levels, particularly during winter and spring time. Seasonality, ethnicity and overweight/obesity were confirmed to influence the vitamin D status, thus indicating the need for effective initiatives to support adequate vitamin D status in this population group.
Background Kawasaki disease (KD) is a medium vessel vasculitis, of unknown etiology, typically presenting in children younger than 5 years of age. Prolonged fever (at least five days) is a major clinical criterion of KD, while cardiac involvement may occur in up to 25% of patients, generally in the second week of the disease. Case presentation We describe the case of KD developing in a 3-month infant, with an early occurrence of coronary artery aneurysm after only 3 days of fever, complicated by thrombosis, requiring aggressive treatments. Conclusions Time of development of cardiac complications can be different in young infants with KD and both diagnostic criteria and treatment indications should be individualized in this class of age.
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder caused by the deficiency of α‐L‐iduronidase and characterized by a progressive course with multisystem involvement. Clinically, MPS I is divided into two forms: (1) severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement; (2) attenuated (Hurler/Scheie and Scheie syndromes), which displays a slower progression and absent to mild nervous system involvement. The specific treatment for attenuated MPS I consists of enzyme‐replacement therapy with laronidase (human recombinant α‐L‐iduronidase, Aldurazyme). We present updated data after 18 years of laronidase treatment in two siblings affected by the attenuated form of MPS I who started therapy at 5 months and 5 years of age, respectively. Clinical and laboratory data of the siblings show that long‐term enzyme replacement therapy may improve/stabilize many symptoms already present at the time of the diagnosis and reduce the disease progression. This study confirms that early diagnosis and early initiation of enzyme‐replacement therapy are essential to modify positively the natural history of the attenuated form of MPS I.
(1) Background: Vitamin D is involved in calcium homeostasis and bone metabolism, although its extra-skeletal actions are also well-known. Low serum 25(OH)D levels are common both in adults and children worldwide. (2) Methods: the purpose of this cross-sectional study was to determine the distribution of 25(OH)D levels in a cohort of healthy Italian school-age children, aged 5-10 years, in relationship to determinants of vitamin D deficiency such as season, BMI, gender, age and ethnicity. (3) Results: the mean serum 25(OH) D level was 28.2 ng/mL; the prevalence of 25(OH)D sufficiency (>30 ng/mL), insufficiency (20-30 ng/mL), deficiency (10-20 ng/mL) and severe deficiency (<10 ng/mL) was 36%, 37%, 21% and 6% of the study-group population, respectively. The lower serum 25(OH)D values were observed during winter (21.6 ng/mL) and spring (22.9 ng/mL), as compared to summer (46.7 ng/mL) (p<0.001). Higher BMI z-scores were associated with lower 25(OH)D level while no statistical difference was observed as related to gender and age groups. (4) Conclusions: healthy Italian schoolchildren show low 25(OH)D levels, particularly during winter and spring time. Seasonality, ethnicity and overweight/obesity were confirmed to influence the vitamin D status, thus indicating the need for effective initiatives to support adequate vitamin D status in this population group.
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