Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.

OBJECTIVES: Pseudohypoparathyroidism type 1A (PHP1A) encompasses the association of resistance to multiple hormones, features of Albright hereditary osteodystrophy and decreased Gsα activity. Little is known about the early signs of PHP1A, with a delay in diagnosis. We report two PHP1A cases and their clinical and biochemical findings during a 20-year follow-up. CASE PRESENTATION: Clinical suspicion was based on obesity, TSH resistance and ectopic ossifications which appeared several months before PTH resistance, at almost 3 years of age. Treatment with levothyroxine, calcitriol and calcium was required in both patients. DNA sequencing of GNAS gene detected a heterozygous pathogenic variant within exon 7 (c.569_570delAT) in patient one and a deletion from XLAS to GNAS-exon 5 on the maternal allele in patient 2. In patient 1, ectopic ossifications that required surgical excision were found. Noticeably, patient 2 displayed adult short stature, intracranial calcifications and psychomotor delay. In terms of weight, despite early diagnosis of obesity, dietary measures were established successfully in both cases. CONCLUSIONS: GNAS mutations should be considered in patients with obesity, ectopic ossifications and TSH resistance presented in early infancy. These cases emphasize the highly heterogeneous clinical picture PHP1A patients may present, especially in terms of final height and cognitive impairment.

Severity of new-onset type 1 diabetes in children and adolescents during the coronavirus-19 disease pandemic.

INTRODUCTION: ß-pancreatic cells are susceptible to SARS-CoV-2 infection and replication; this could lead to infection-related diabetes or precipitate the onset of type 1 diabetes. This study aimed to determine the severity at diagnosis, analyzing clinical and epidemiological features at debut in children under 16 years of age in the context of the SARS-CoV-2 pandemic. MATERIAL AND METHODS: A retrospective observational multicenter study was carried out in 7 hospitals of the public health network located in the south of our community. The severity at debut is compared with that of the two previous years (2018 and 2019). The level of statistical significance is set at p<0.05. RESULTS: In 2020, 61 patients debuted at the 7 hospital centres. The mean age was 10.1 years (SD: 2.6), 50.8% older than 10 years. The clinical profile at diagnosis was ketoacidosis in 52.5% compared to 39.5% and 26.5% in the previous two years (p<0.01). The mean pH (7.24 vs 7.30/7.30) and excess of bases (-11.9 vs -7.43/-7.9) was lower than in the previous two years, and the glycated haemoglobin higher (11.9 vs 11/10.6), p<0.05. At least 10% of the patients had a positive history of SARS-CoV-2 infection. CONCLUSIONS: There has been an increase in the frequency of diabetic ketoacidosis in type 1 diabetes onset during the first year of the COVID-19 pandemic.

[Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence]. / Diabetes mellitus y ataxia de Friedreich en un niño: una difícil coexistencia.

Friedreich's ataxia is an autosomal recessive disease caused by trinucleotide repeat expansion, presenting among other systemic complications, diabetes mellitus. The appearance of motor clumsiness, with running and jumping difficulties in a 6-year-old boy prompted the genetic study of Friedreich's ataxia, confirming his diagnosis. After diagnosis, it was evaluated by Pediatric Cardiology, detecting the presence of non-obstructive hypertrophic cardiomyopathy, and by Pediatric Endocrinology, due to overweight. At 9 years of age, he was diagnosed with diabetes mellitus, a regimen of insulin treatment was initiated. During follow-up, he presented significant neurological deterioration, reaching the use of a wheelchair, which hinders adequate metabolic control. This is a report of a pediatric patient with Friedrich ataxia and diabetes mellitus.

La ataxia de Friedreich, de herencia autosómica recesiva causada por una expansión repetida de trinucleótidos se asocia, entre otras complicaciones sistémicas, con diabetes mellitus. La aparición de torpeza motriz, con dificultad en la carrera y el salto en un varón de 6 años motivaron el estudio genético para ataxia de Friedrich y permitieron confirmar el diagnóstico. Tres años más tarde, se diagnosticó diabetes mellitus y se inició el tratamiento con insulina. Durante el seguimiento, presentó un importante deterioro neurológico, con necesidad de usar silla de ruedas, lo que dificultó un adecuado control metabólico. Se presenta el manejo y la evolución de un paciente con ataxia de Friedreich y diabetes mellitus.

Diabetes mellitus y ataxia de Friedreich en un niño: una difícil coexistencia / Diabetes mellitus and Friedreich´s ataxia in a child: a complicated coexistence

La ataxia de Friedreich, de herencia autosómica recesiva causada por una expansión repetida de trinucleótidos se asocia, entre otras complicaciones sistémicas, con diabetes mellitus. La aparición de torpeza motriz, con dificultad en la carrera y el salto en un varón de 6 años motivaron el estudio genético para ataxia de Friedrich y permitieron confirmar el diagnóstico. Tres años más tarde, se diagnosticó diabetes mellitus y se inició el tratamiento con insulina. Durante el seguimiento, presentó un importante deterioro neurológico, con necesidad de usar silla de ruedas, lo que dificultó un adecuado control metabólico. Se presenta el manejo y la evolución de un paciente con ataxia de Friedreich y diabetes mellitus

Friedreich's ataxia is an autosomal recessive disease caused by trinucleotide repeat expansion, presenting among other systemic complications, diabetes mellitus. The appearance of motor clumsiness, with running and jumping difficulties in a 6-year-old boy prompted the genetic study of Friedreich's ataxia, confirming his diagnosis. After diagnosis,it was evaluated by Pediatric Cardiology, detecting the presence of non-obstructive hypertrophic cardiomyopathy, and by Pediatric Endocrinology, due to overweight. At 9 years of age, he was diagnosed with diabetes mellitus, a regimen of insulin treatment was initiated. During follow-up, he presented significant neurological deterioration, reaching the use of a wheelchair,which hinders adequate metabolic control. This is a report of a pediatric patient with Friedrich ataxia and diabetes mellitus.

[Severity of new-onset type 1 diabetes in children and adolescents during the coronavirus-19 disease pandemic]. / Gravedad al comienzo de la diabetes tipo 1 en niños y adolescentes durante la pandemia por la enfermedad por coronavirus-19.

Introduction: ß-pancreatic cells are susceptible to SARS-CoV-2 infection and replication; this could lead to infection-related diabetes or precipitate the onset of type 1 diabetes. This study aimed to determine the severity at diagnosis, analyzing clinical and epidemiological features at onset in children under 16 years of age in the context of the SARS-CoV-2 pandemic. Material and methods: A retrospective observational multicenter study was carried out in 7 hospitals of the public health network located in the south of our community. The severity at debut is compared with that of the two previous years (2018 and 2019). The level of statistical significance is set at P < .05. Results: In 2020, 61 patients were diagnosed at the 7 hospital centres. The mean age was 10.1 years (SD: 2.6), 50.8% were older than 10 years. The clinical profile at diagnosis was ketoacidosis in 52.5% compared to 39.5% and 26.5% in the previous two years (P < .01). The mean pH (7.24 vs 7.30 / 7.30) and excess of bases (-11.9 vs -7.43 / -7.9) was lower than in the previous two years, and the glycated haemoglobin higher (11.9 vs 11 / 10.6)%, p < 0.05. At least 10% of the patients had a positive history of SARS-CoV-2 infection. Conclusions: There has been an increase in the frequency of diabetic ketoacidosis in type 1 diabetes onset during the first year of the COVID-19 pandemic.

The triglyceride/glucose index as an insulin resistance marker in the pediatric population and its relation to eating habits and physical activity.

INTRODUCTION: To examine the triglyceride/glucose index (TyG) as an insulin resistance marker in obese children and adolescents and its relation to clinical and biochemical parameters, body composition and lifestyle. PATIENTS AND METHOD: Sixty patients aged 7-16 years of age were enrolled. Anthropometric variables were recorded, together with pubertal stage, blood pressure and body composition assessed by bioimpedance. The TyG index was calculated as ln (fasting glucose (mg/dL) × triglycerides (mg/dL))/2 and the HOMA (homeostatic model assessment) index as fasting insulin (µU/mL) × fasting glucose (mmol/L)/22.5. Feeding habits were documented by adherence to the Mediterranean dietary pattern questionnaire, while physical activity was assessed using the International Sedentary Assessment Tool (ISAT), as well as accelerometry (Actigraph wGT3X+). RESULTS: The mean TyG index was 4.45 ±â€¯0.18, and proved higher in the pubertal group. We found a positive correlation with the HOMA index (r = 0.39; P = 0.03) and TG/HDL-c index (r = 0.53; P < 0.001). The best cut-off point of the TyG index for predicting insulin resistance was 4.21 in prepubertal children (sensitivity 84%, specificity 100%; AUC: 0.84) and 4.33 in pubertal children (sensitivity 89%, specificity 69%; AUC: 0.61). A positive correlation was found with screen time (r = 0.39; P = 0.01), as well as a negative correlation with caloric expenditure (Kcal/day) in the prepubertal group (r = -0.81; P = 0.005). CONCLUSIONS: The TyG index could be a useful insulin resistance marker in the pediatric population. Moderate to vigorous physical activity should be encouraged, as well as restricting screen time for leisure purposes, mainly in the prepubertal group.

The triglyceride / glucose index as an insulin resistance marker in the pediatric population and its relation to eating habits and physical activity. / El índice triglicéridos-glucosa como marcador de insulinorresistencia en población pediátrica y su relación con hábitos de alimentación y actividad física.

INTRODUCTION: To examine the triglyceride/glucose index (TyG) as an insulin resistance marker in obese children and adolescents and its relation to clinical and biochemical parameters, body composition and lifestyle. PATIENTS AND METHOD: Sixty patients aged 7-16 years of age were enrolled. Anthropometric variables were recorded, together with pubertal stage, blood pressure and body composition assessed by bioimpedance. The TyG index was calculated as ln (fasting glucose (mg/dL)×triglycerides (mg/dL))/2 and the HOMA (homeostatic model assessment) index as fasting insulin (µU/mL)×fasting glucose (mmol/L)/22.5. Feeding habits were documented by adherence to the Mediterranean dietary pattern questionnaire, while physical activity was assessed using the International Sedentary Assessment Tool (ISAT), as well as accelerometry (Actigraph wGT3X+). RESULTS: The mean TyG index was 4.45±0.18, and proved higher in the pubertal group. We found a positive correlation with the HOMA index (r=0.39; P=.03) and TG/HDL-c index (r=0.53; P<.001). The best cut-off point of the TyG index for predicting insulin resistance was 4.21 in prepubertal children (sensitivity 84%, specificity 100%; AUC: 0.84) and 4.33 in pubertal children (sensitivity 89%, specificity 69%; AUC: 0.61). A positive correlation was found with screen time (r=0.39; P=.01), as well as a negative correlation with caloric expenditure (Kcal/day) in the prepubertal group (r=-0.81; P=.005). CONCLUSIONS: The TyG index could be a useful insulin resistance marker in the pediatric population. Moderate to vigorous physical activity should be encouraged, as well as restricting screen time for leisure purposes, mainly in the prepubertal group.

Clinical and Virological Characteristics of Early and Moderate Preterm Infants Readmitted With Viral Respiratory Infections.

BACKGROUND: Rehospitalization of children born prematurely (referred to as preterm children) caused by severe respiratory infections is common. Most studies have focused on respiratory syncytial virus infection. We designed a study to determine the virological and clinical characteristics of severe respiratory infections of children born early (<32 weeks) and moderate preterm (32 to 36 weeks), and compared them with full term (FT; ≥37 weeks) children who were subsequently admitted with respiratory illness. METHODS: A 7-year observational prospective study was conducted on preterm and FT children, less than 14 years old hospitalized with respiratory infection. The presence of 16 respiratory viruses in nasopharyngeal aspirates was sought. Clinical and virological characteristics of subjects were compared among term and preterm children. RESULTS: We studied 411 respiratory hospital admissions of 262 preterm children who were compared with 2057 respiratory hospital admissions of term children. In 78.6% of preterm episodes, at least 1 respiratory virus was identified. The most frequent viruses were respiratory syncytial virus (29%), rhinovirus (25%) and human bocavirus (13%). Human metapneumovirus and parainfluenza virus were significantly more frequent in preterm than in term children (P < 0.001 and P = 0.017, respectively). Early preterm (EPT) infants admitted with bronchiolitis presented more hypoxia (P = 0.08), longer hospital stay (P = 0.05), more infiltrate on chest radiograph (P = 0.02) and more antibiotic treatment (P = 0.02) than moderate preterm (MPT) infants. Moreover, MPT needed more intensive care unit admission than FT infants (P < 0.001). Regarding wheezing episodes, EPT patients showed significantly more infiltrate/atelectasis (P < 0.001), longer oxygen therapy (P = 0.039) and longer hospital stay (P = 0.07) than MPT children, although similar percentage of intensive care unit admission was seen in both groups. MPT-wheezy children needed longer hospital stay than FT (P = 0.05). Previous bronchiolitis and EPT were independent factors associated with multiple wheezing admissions. CONCLUSION: Our results demonstrate that besides respiratory syncytial virus, other viruses mainly rhinovirus and human bocavirus are important pathogens in severe respiratory infections in preterm children. Human metapneumovirus and parainfluenza virus seem also to play a significant role in this group of children. There is increased medical resource utilization, not only among EPT but also in MPT hospitalized children with respiratory infections as many of them require more medical support than FT children.