Publications by authors named "Joaquin Ramirez Fernandez"
Article Synopsis
- A study investigated the genetic variants related to skeletal dysplasias in 108 individuals with short stature and mild skeletal issues using next generation sequencing (NGS).
- Out of the participants, 19.4% showed heterozygous variants, primarily in the ACAN and IHH genes, which were linked to significant differences in anthropometric measurements compared to those without variants.
- The findings suggest that mild skeletal dysplasias are more common in people with short stature, and detailed phenotype assessments can help identify patients who might benefit from genetic testing, despite current limitations in extensive molecular studies.
Article Synopsis
- Heterozygous variants in the Indian hedgehog gene (IHH) are linked to brachydactyly type A1 and mild skeletal anomalies, notably in individuals with short stature, broadening the understanding of skeletal dysplasias.
- This study analyzed 16 individuals with unknown genetic causes for their conditions, revealing 15 distinct IHH variants, including the first complete deletion of the gene.
- The clinical findings highlighted variations among patients, with many experiencing mild to moderate short stature and specific hand anomalies, indicating that IHH mutations can cause short stature and skeletal defects, warranting further genetic assessments and family studies for accurate diagnosis.
Background: Non-adherence to r-hGH treatments occurs in a variable percentage of subjects. One problem found when evaluating adherence is the great variability in methods of detection and definitions utilized in studies. This study assessed the level of adherence in subjects receiving r-hGH with the easypod™ electronic device.
View Article and Find Full Text PDFBackground And Objective: Incidence of type 1 diabetes mellitus (DM) varies importantly worldwide, including European countries, and even among regions within a country. The aim of this study is to describe the incidence of type 1 DM in the Madrid Region.
Material And Method: We included 1130 new cases of type 1 DM in children below 15 years of age, which were notified to the diabetes registry from January, 1997 to December, 2005.