Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 3 de 3
Filter
Add more filters










Database
Language
Publication year range
1.
J Pediatr Genet ; 11(2): 158-161, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35769963

ABSTRACT

Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a genetic syndrome. Its main characteristics are bony dysplasia, prenatal and postnatal growth deficiencies, microcephaly, and cerebrovascular disease. Several other features have been added recently. We report an individual with MOPDII affected by congenital renal dysplasia and hyperosmolar coma diabetic onset. Renal dysplasia has not been previously described in individuals with MOPDII. By publishing cases of unusual genetic disorders, it will be possible to broaden the spectrum of these rare syndromes, and improve the diagnosis and management of comorbidities.

2.
Pediatr Allergy Immunol ; 32(6): 1183-1189, 2021 08.
Article in English | MEDLINE | ID: mdl-33811785

ABSTRACT

INTRODUCTION: Vitamin D has known effects on the immune system, and its deficiency has been associated with allergen sensitization. MATERIAL AND METHODS: A retrospective study was performed to evaluate the association between 25(OH)vitamin D (25(OH)D) and specific IgE for the most frequent allergens in our area in children and adolescents. All subjects under 15 years of age with a determination of Phadiatop® or Phadiatop Infant® and close serum 25(OH)D determination were included, from 2012 to 2019. From this sample, demographic and analytical variables were collected: specific IgE to Dermatophagoides pteronyssinus; dog and cat dander; grass, olive, and pellitory pollens; egg white; and cow milk; as well as complete blood count analysis and immunoglobulins. RESULTS: A total of 749 subjects were recruited. Clusters according to deficiency, insufficiency, or sufficiency of 25(OH)D showed an association with age, Phadiatop® , D. pteronyssinus, cat and dog dander specific IgE, and a higher frequency of positive allergen sensitization (P < .05). Logistic regression, compared with vitamin D levels of greater than 30 ng/mL after age adjustment, showed that deficient 25(OH)D was associated with D. pteronyssinus (OR 1.90; 95% CI, 1.25-2.90) and dog dander (OR, 2.10; 1.10-4.02); whereas insufficient 25(OH)D was associated with cat dander (OR, 2.46; 1.15-5.28) and also with D. pteronyssinus (OR, 1.55; 1.06-2.29) (P < .05). No associations were found between 25(OH) D levels and other analytical parameters. CONCLUSION: Vitamin D status is associated with sensitization to D. pteronyssinus, and cat and dog dander in children and adolescents, and also with a higher number of positive specific IgE.


Subject(s)
Cat Diseases , Dog Diseases , Adolescent , Allergens , Animals , Cats , Cattle , Child , Dogs , Female , Humans , Retrospective Studies , Spain/epidemiology , Vitamin D
3.
J Pediatr Endocrinol Metab ; 33(10): 1265-1271, 2020 Aug 27.
Article in English | MEDLINE | ID: mdl-32853168

ABSTRACT

Objectives Our aim is to evaluate whether 25-hydroxyvitamin D at onset of type 1 diabetes mellitus (T1DM) would influence analytical variables of worse prognosis of the disease at the beginning and after one year of development. Methods A retrospective study of pediatric patients (0-14 years) diagnosed with T1DM with initial measurements of 25-hydroxyvitamin D was performed at Son Espases Hospital, between March 2012 and April 2019 (n=67). Results Vitamin D insufficiency was related to age, glycosylated hemoglobin, and creatinine. An improvement in glycosylated hemoglobin was found in subjects whose baseline serum 25(OH)D was >30 ng/mL. Bivariate correlation analysis adjusted by age showed a significantly positive correlation of vitamin D with pH (r=0.279), bicarbonate (r=0.338), and free levothyroxine (r=0.293). Independent variables associated with vitamin D insufficiency were age (odds ratio [OR]=1.2) and winter season (OR=10.52). Conclusion Hypovitaminosis D is related to biochemical variables showing greater severity and higher glycosylated hemoglobin at diagnosis: higher creatinine, lower free levothyroxine, pH, and bicarbonate. Unsupplemented patients with baseline deficiency showed persistently worse glycemic control vs. those with baseline repletion.


Subject(s)
Biomarkers/metabolism , Diabetes Mellitus, Type 1/pathology , Glycemic Control/adverse effects , Severity of Illness Index , Vitamin D Deficiency/complications , Vitamin D/metabolism , Vitamins/metabolism , Adolescent , Age of Onset , Blood Glucose/analysis , Child , Child, Preschool , Diabetes Mellitus, Type 1/etiology , Diabetes Mellitus, Type 1/metabolism , Female , Follow-Up Studies , Humans , Infant , Male , Prognosis , Retrospective Studies
SELECTION OF CITATIONS
SEARCH DETAIL
...