2 research outputs found
Aldosterone synthase deficiency type II: an unusual presentation of the first Greek case reported with confirmed genetic analysis
Objective. Aldosterone synthase deficiency (ASD) is a rare, autosomal recessive inherited disease with an overall clinical phenotype of failure to thrive, vomiting, severe dehydration, hyperkalemia, and hyponatremia. Mutations in the CYP11B2 gene encoding aldosterone synthase are responsible for the occurrence of ASD. Defects in CYP11B2 gene have only been reported in a limited number of cases worldwide. Due to this potential life-threatening risk, comprehensive hormonal investigation followed by genetic confirmation is essential for the clinical management of offsprings
A National Survey Across Primary Care Pediatricians Regarding Immunization Views and Practices in Children With Rheumatic Diseases
Objective The aims of this study were to describe the knowledge,
attitude, and current practice of general pediatricians working in
primary care regarding vaccination in children with rheumatic diseases
(RDs) and to identify barriers and facilitators that could be used to
promote uptake. Methods Cross-sectional survey conducted with an
anonymous questionnaire of 34 items distributed to pediatricians via an
online platform. Four hundred questionnaires were sent, and 256 were
returned and analyzed using STATA 13. Data collection included
demographics, questions on knowledge, perceptions, and opinions, as well
as advice given to families. Results The majority of doctors felt that
vaccination in children with RDs is essential. Responders were using a
variety of guidelines to reach a clinical decision. Fifty percent were
hesitant to adhere to the national vaccination scheme without expert
input. Reasons were as follows: not convinced from current literature
that the vaccine is safe (32%), afraid to cause disease flare (43%),
and unable to deal with parental concerns/refusal (54%). Twelve percent
of responders felt that the RD may have been triggered by a vaccine. The
majority (82%) of doctors were pro annual influenza vaccination.
Seventy percent of doctors were keener to administer booster doses
rather than primary ones. Conclusions Variation in opinion and clinical
practice exists. Overall, although general pediatricians are informed
regarding efficacy and adverse effects of immunizations in patients with
RDs, there are steps to be made from principle to practice. Vaccinating
these children is of vital importance, and primary care pediatricians
should be updated regarding existing guidelines referring to this field