Publications by authors named "M Martin-Frias"

: To assess the impact of the COVID-19 pandemic and lockdown measures on the presenting characteristics (age at diagnosis, severity, monthly distribution) of newly diagnosed type 1 diabetes in Spanish children. : An ambispective observational multicenter study was conducted in nine Spanish tertiary-level hospitals between January 2015 and March 2021. Inclusion criteria: new cases of type 1 diabetes in children (0-14 years) recording age, sex, date of diagnosis, presence of diabetic ketoacidosis (DKA) at onset, and severity of DKA.

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Introduction: Children and adolescents with type 1 diabetes mellitus (T1DM) are at high risk for the development of celiac disease (CD) because of the common genetic characteristics of both conditions. The study objectives were to investigate the frequency of the human leukocyte antigen system (HLA) for CD in pediatric T1DM patients and to determine whether HLA testing is suitable for CD screening in that population and is cost-effective as compared to serological screening for CD.

Patients And Methods: A retrospective, descriptive study was conducted in 296 patients (148 girls; 148 boys) with T1DM aged <18 years who attended a Madrid hospital.

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Introduction: Children and adolescents with type1 diabetes mellitus (T1DM) are at high risk for the development of celiac disease (CD) because of the common genetic characteristics of both conditions. The study objectives were to investigate the frequency of the human leukocyte antigen system (HLA) for CD in pediatric T1DM patients and to determine whether HLA testing is suitable for CD screening in that population and is cost-effective as compared to serological screening for CD.

Patients And Methods: A retrospective, descriptive study was conducted in 296 patients (148 girls; 148 boys) with T1DM aged <18years who attended a hospital in Madrid.

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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.
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Introduction: Treatment with recombinant human growth hormone (rhGH) has been shown to improve adult height in pediatric patients with GH deficiency (GHD). However, reassessment of patients after they reach their final height shows some of them have permanent GH deficiency (PGHD), while others had a transient deficiency (TGHD). The study objective was to assess, in a cohort of pediatric patients with GHD, potential differences in response to treatment with rhGH depending on whether deficiency is permanent or transient.

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