Publications by authors named "Martin-Frias M"

: 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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Aims: The aim was to evaluate the effectiveness of sensor-augmented pump therapy with predictive low-glucose suspend function (SAP-PLGS) in real-world use in children and adults with type 1 diabetes (T1D).

Methods: Patients with T1D treated with the MiniMed 640G pump with PLGS function at three referral hospitals were retrospectively evaluated. Hb at baseline and at 6, 12, 18, and 24 months was analyzed.

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Introduction: The onset of obesity at young ages is strongly associated with the early development of type 2diabetes (T2D). The shape of the curves of glucose and insulin curves during an oral glucose tolerance test (OGTT) could predict the risk of developing T2D.

Objective: To analyse the morphology of the OGTT and determine T2D risk factors in a mainly Caucasian population of children and adolescents.

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Introduction/aims: Treatment with the MiniMed 640G-SmartGuard system (640G-SG, sensor-augmented insulin pump system with low predicted glucose suspension feature) has been shown to decrease risk of hypoglycemia without altering metabolic control in patients with T1DM. The study purpose was to assess the impact of 640G-SG on hipoglycemia frequency and on metabolic control in a pediatric population with T1DM.

Patients/methods: A retrospective study on 21 children treated with 640G-SG.

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Objective: The aims of the study are to evaluate the efficacy and safety of continuous subcutaneous insulin infusion (CSII) treatment in pre-school children with type I diabetes, and to assess whether the criteria of good metabolic control are achieved.

Method: A review was performed on the medical charts of patient's<6 years of age who started CSII treatment between 2003 and 2014. The cohort consisted of 27 patients (mean age 4 (2.

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Introduction: Diabetes education is an essential tool to achieve treatment objectives in type1 diabetes mellitus (T1DM). The aim of this study was to determine if understanding of diabetes by caregivers/patients or sociodemographic factors affect blood glucose control in children and adolescents with T1DM.

Patients And Methods: The level of knowledge of 105 caregivers of children and adolescents with T1DM was assessed using a survey adapted to the type of treatment used (multiple dose insulin [MDI] or continuous subcutaneous insulin infusion [CSII]).

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Aims: To evaluate the efficacy and safety of Continuous Subcutaneous Insulin Infusion (CSII) in a pediatric cohort and to determine if the ISPAD/IDF/ADA criteria for good metabolic control are achieved during long periods of time.

Methods: Retrospective longitudinal study including ninety patients [10.5 (6.

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Objectives: To analyse the prevalence, evolution of cardiovascular risk factors (CVRF) and their relationship with follow-up of metabolic control in pediatric patients with Type 1 Diabetes (T1DM).

Patients And Methods: Longitudinal ambispective study including 75 children and adolescents with T1DM diagnosed from 1996 to 2003 and followed-up for nine years. Family history of CVRF was registered.

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Aim: To assess lung function in children and adolescents with type 1 diabetes mellitus (T1DM).

Patients And Methods: We conducted a case-control study of 100 patients with T1DM [median age 13 (10.6-14.

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Introduction And Objectives: LEOPARD syndrome is an autosomal dominant condition related to Noonan syndrome, although it occurs less frequently. The aim of this study was to characterize the clinical and molecular features of a large series of LEOPARD syndrome patients.

Methods: We collected clinical data from 19 patients in 10 hospitals.

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Introduction: The transition between pediatric and adult care for young people with type 1 diabetes (T1D) is often poorly managed, with adverse consequences for health, as well as a decrease in the follow-up.

Objective: To analyze the metabolic control and the degree of satisfaction in a group of patients with T1D after being transferred from the Pediatric Diabetes Unit (PDU) to Adult Diabetes Unit (ADU).

Patients And Methods: Retrospective study in a cohort of 49 patients (43% female) with T1D.

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Introduction: Radioiodine is an important therapeutic option in young patients with Grave's disease (GD). In the United States it is a widespread therapy, but in Europe its use in paediatrics is still controversial.

Aim: To report our experience in radioiodine therapy of paediatric GD patients and analyse its effectiveness and safety.

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Introduction: Obesity in children is becoming more prevalent. Obesity and type 2 diabetes is higher in the Latin American immigrant population.

Objective: To analyze the influence of ethnicity on the prevalence of metabolic syndrome (MS) and its components in an obese pediatric population.

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Introduction: Annual screening for abnormal glucose tolerance (AGT) with oral glucose test should begin by age 10 years in cystic fibrosis (CF) patients (Consensus-2010).

Aims: To examine the frequency of AGT and its outcome in prepubertal CF patients and the changes in glycemic and nutritional status and lung function over the preceding year.

Patients And Methods: Retrospective study of 19 prepubertal CF patients (68% males).

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