Thyroid Hormone Resistance: Multicentrical Case Series Study.

Resistance to thyroid hormone syndrome (RTHS) is defined as increased thyroxine and triiodothyronine associated with normal or increased thyrotropin. This is usually due to a pathogenic variant of the gene coding for thyroid hormone receptor B (THRB). THRB is a rare genetic disorder characterized by an altered response of target tissue to the thyroid hormone action. Retrospective cross-sectional observational study with diagnosis of RTHS evaluated in secondary and tertiary hospitals for 6 years, from 2014 to 2020, in order to describe variables including age, sex, anthropometric data, clinical and biochemical characteristics of patients, who were divided according to age, in a pediatric group from 0 to 14 years (index cases), and an adult group composed of adult relatives of index cases. A molecular analysis of the THRB gene was performed. The total retrospective cohort included 7 pediatric patients and 15 adults. We found 22 cases with a clear male predominance (14/22). Mean age is 24.8 years old (22 days-70 years). Patients were referred because of symptoms 18.2% (4/22), analysis results 22.7% (5/22), or familial study 59.1% (13/22). About 31.8% (7/22) cases show goiter, 31.8% (7/22) sympathetic symptoms and 13.6% (3/22) abnormalities in behavior. In most cases, 77.3%, (17/22) show familial background of thyroid abnormalities. It is important to remark that 18.2% (4/22) relatives received previous incorrect treatments such as thyroidectomy, because of wrong diagnosis. In conclusion, a better understanding of RTHS, its prompt molecular diagnosis and genetic counseling, could avoid unnecessary tests and inappropriate treatments.

Factors associated with knowledge and vaccination intention for human papillomavirus on trans girls by their main caregiver: A cross-sectional study.

Introduction: Trans women are highly affected by the human papillomavirus (HPV) and are at risk of suffering from HPV-related diseases such as oropharyngeal, anal, penile, or neovaginal neoplasia. HPV vaccination seems to be a good strategy to reduce HPV-related diseases, mainly during the early age before the first sexual intercourse, but only cisgender girls are covered by the National Health Services, while some high-risk groups such as trans girls are not included. Achieving a high vaccination rate is important in the adolescent population, but there are many factors that could affect it, such as lack of knowledge about HPV or fear of side effects by patients and main caregivers. The aim of our study is to analyze the knowledge of trans girls' main caregivers about HPV-related diseases in the general population and, in particular, in trans women, as well as factors associated with HPV vaccination intention. Methods: A cross-sectional study was performed with the collaboration of main caregivers of adolescent trans girls, between 9 and 16 years old, assisted in two reference centers' multidisciplinary Gender Diversity Units. Information was requested through a self-completed questionnaire: HPV-related diseases Knowledge Transwomen questionnaire (HPV-TQ) was elaborated based on a 19-item self-administered questionnaire and score was standardized from 0 to 19 points. Percentage of correct answers was calculated and defined by the group of high scores that showed over 70% correct answers. Results: A total of 65 main caregivers were included. Almost all main caregivers were mothers with a Caucasian ethnicity. The HPV-TQ average score was 11 (3.7) with an average correct answer of 58.1% (19.6). Only 17/65 (26.1%) of main caregivers were highly knowledgeable in HPV. Of 65 trans girls, 14 were already vaccinated (29.8% of trans girls over 12 years old); 78.5% were not vaccinated and only 21.5% had intentions to be vaccinated. The group with a high score in HPV-TQ had a longer follow-up at the transgender unit, a higher maternal vaccination rate, and a positive family history of HPV-related disease, especially in mothers. Conclusion: Adolescent trans girls attended to in our units had a low rate and a low intention of vaccination against HPV. Education on and promotion and prevention of transgender HPV-related diseases should probably be implemented to achieve a higher knowledge and vaccination coverage in adolescent trans girls.

Metabolic Control of the FreeStyle Libre System in the Pediatric Population with Type 1 Diabetes Dependent on Sensor Adherence.

AIMS: To evaluate the relationship between daily sensor scan rates and changes in HbA1c and hypoglycemia in children. METHODS: We enrolled 145 paediatric T1D patients into a prospective, interventional study of the impact of the FreeStyle Libre 1 system on measures of glycemic control. RESULTS: HbA1c was higher at lower scan rates, and decreased as the scan rate increased to 15-20 scans, after which it rose at higher scan rates. An analysis of the change in hypoglycemia, based on the number of daily sensor scans, showed there was a significant correlation between daily scan rates and hypoglycemia. Subjects with higher daily scan rates reduced all levels of hypoglycaemia. CONCLUSIONS: HbA1c is higher at lower scan rates, and decreases as scan rate increases. Reductions in hypoglycemia were evident in subjects with higher daily scan rates.

Impact on variables of severe hypoglycaemia and healthcare costs of the use of the FreeStyle system in paediatric population with type 1 diabetes mellitus.

INTRODUCTION: Analysis of the impact on severe hypoglycaemia and direct costs of the introduction of the FreeStyle Libre sensor in paediatric population with type 1 Diabetes Mellitus. MATERIAL AND METHODS: Ambispective single-centre study to assess the impact on severe hypoglycaemia and direct costs, focusing on consumption of materials, in paediatric population with type 1 Diabetes Mellitus before and after introduction of the FreeStyle Libre 1 sensor. RESULTS: A significant decrease was found in episodes of severe hypoglycaemia, with 4.2 episodes of severe hypoglycaemia per 100 patients under follow-up versus 0.25 episodes per 100 patients a year after introduction of the system. This represents a cost difference for severe hypoglycaemia, estimated at €6559.52 before introduction and €409.97 after introduction of the FreeStyle Libre sensor. We found a decrease in the daily consumption of capillary blood glucose strips, which translates as a decrease in the cost of materials and helps mitigate the cost of the sensor. The cost in materials for the patient with FreeStyle Libre was €185.13 per patient and year higher than conventional control with capillary blood glucose strips.

Isolated Growth Hormone Deficiency and Idiopathic Short Stature: Comparative Efficiency after Growth Hormone Treatment up to Adult Height.

INTRODUCTION: Treatment with growth hormone (GH) is not approved for idiopathic short stature (ISS) in Europe. OBJECTIVES: To compare the growth of children treated with isolated GH deficiency (IGHD) vs. ISS-treated and untreated children. METHODS: A retrospective descriptive study of patients treated in the last 14 years for IGHD (Group A), in comparison with ISS-treated (Group B) and untreated (Group C) subjects. RESULTS: Group A had 67 males, who showed a height gain of 1.24 SD. Group B had 30 boys, who showed a height gain of 1.47 SD. Group C had 42 boys, who showed an improvement of 0.37 SD. The final heights were -1.52 SD, -1.31 SD, and -2.03 SD, respectively. Group A and C did not reach their target heights (with differences of 0.27 SD and 0.59 SD, respectively). Group B surpassed their target height by 0.29 SD. CONCLUSIONS: The final heights of the IGHD and treated ISS are similar. Treated groups were taller than untreated groups.

Good Metabolic Control in Children with Type 1 Diabetes Mellitus: Does Glycated Hemoglobin Correlate with Interstitial Glucose Monitoring Using FreeStyle Libre?

BACKGROUND: Good metabolic control of Type 1 diabetes (T1D) leads to a reduction in complications. The only validated parameter for establishing the degree of control is glycated hemoglobin (HbA1c). We examined the relationship between HbA1c and a continuous glucose monitoring (CGM) system. MATERIALS AND METHODS: A cohort prospective study with 191 pediatric patients with T1D was conducted. Time in range (TIR), time below range (TBR), coefficient of variation (CV), number of capillary blood glucose tests, and HbA1c before sensor insertion and at one year of use were collected. RESULTS: Patients were classified into five groups according to HbA1c at one year of using CGM. They performed fewer capillary blood glucose test at one year using CGM (-6 +/- 2, p < 0.0001). We found statistically significant differences in TIR between categories. Although groups with HbA1c < 6.5% and HbA1c 6.5-7% had the highest TIR (62.214 and 50.462%), their values were highly below optimal control according to CGM consensus. Groups with TBR < 5% were those with HbA1c between 6.5% and 8%. CONCLUSIONS: In our study, groups classified as well-controlled by guidelines were not consistent with good control according to the CGM consensus criteria. HbA1c should not be considered as the only parameter for metabolic control. CGM parameters allow individualized targets.

[Patient with respiratory compromise controlled by a pediatric home hospitalization unit.] / Paciente con compromiso respiratorio controlado por una unidad pediátrica de hospitalización a domicilio.

OBJECTIVE: The use of paediatric home oxygen therapy is initiated in neonatal chronic lung disease; later it spreads to other patients with chronic hypoxemia. The frequency and need for oxygen therapy is growing; this, together with the family benefits, justify the implementation of a home treatment plan. Our objective with this work was to know and describe the characteristics of the patients admitted to the Pediatric HaD Unit of a tertiary hospital, the average cost per patient of oxygen therapy during 13 years of review, and evaluate the quality of the service. METHODS: Retrospective descriptive study by reviewing records of patients admitted to home care hospital at home of a paediatric tertiary care hospital (n=124) for 13 years (2000-2013), to learn and to describe the characteristics of the unit and these patients, and costs. After that, it was done statistical analysis through t-Student. RESULTS: 124 patients with chronic hypoxemia patients with mean age of 2.2 years. The most frequent cause was lung diseases, including ECPN as the most important. They accounted 14.2% of hospitalizations in home care hospital at home department, and 60% were achieved clinical stability. The mean cost was 1,991.1€ per patient, which supposes 93% of economical saving in comparison with conventional hospitalization (3,988.91€). CONCLUSIONS: The use of oxygen in HaD improves the quality of life and survival of our patients, reducing the number of readmissions and hospital costs.

OBJETIVO: El empleo de oxigenoterapia domiciliaria pediátrica se inicia en la enfermedad pulmonar crónica neonatal (EPCN), extendiéndose posteriormente a otros pacientes con hipoxemia crónica. La frecuencia y necesidad de oxigenoterapia está en crecimiento, esto, junto a los beneficios familiares, justifican la implantación de un plan de tratamiento domiciliario. Nuestro objetivo con este trabajo fue conocer y describir las características de los pacientes ingresados en la Unidad de HaD Pediátrica de un hospital de tercer nivel, el coste medio por paciente de la oxigenoterapia durante 13 años de revisión, y evaluar la calidad del servicio. METODOS: Estudio descriptivo retrospectivo mediante revisión de las historias de los pacientes ingresados en hospitalización a domicilio pediátrica (HaD) de un hospital de tercer nivel (n=124) durante 13 años (2000-2013), con descripción de las distintas características de la unidad, los pacientes incluidos y el coste. Posteriormente, se realizó análisis estadístico con t-Student. RESULTADOS: Se analizaron 124 pacientes con hipoxemia crónica, con una edad media de 2,2 años, siendo la causa más frecuente las enfermedades pulmonares y entre ellas la EPCN. Estos pacientes representaron el 14,2% de los ingresos en HaD, y en el 60% fue posible la retirada de la oxigenoterapia por buena evolución clínica. El Coste total medio por paciente fue de 1.991,1€, lo que supone un ahorro respecto a la modalidad de hospitalización convencional (3.988,91€) del 93% en nuestro centro. CONCLUSIONES: El uso de oxígeno en HaD mejora la calidad de vida y supervivencia de nuestros pacientes, disminuyendo el número de reingresos y costes hospitalarios.

Differences between patients with isolated GH deficiency based on findings in brain magnetic resonance imaging.

INTRODUCTION: Protocol for prescribing hormone replacement therapy in isolated growth hormone (GH) deficiency includes magnetic resonance imaging of the brain. There is controversy on the frequency of structural pituitary abnormalities and on the importance of abnormal MRI findings on prognosis and response to GH replacement. METHODS: A descriptive, retrospective study of children of both sexes aged 0-14 years, who had undergone brain MRI, diagnosed with isolated GH deficiency at a tertiary hospital in the past 14 years, aimed at reporting the frequency of abnormal MRI findings in isolated GH deficiency, and to establish whether differences exist in height diagnosis and evolution according to MRI findings. MRI findings were also compared with the findings reported in healthy children in order to establish incidence. RESULTS: 96 patients were studied, of whom 74/96 (77%) reached adult age. Abnormal MRI findings were seen in 11.5% of them (8/11 of pituitary origin). No brain or pituitary tumor was seen in any case. Patients with abnormal images had a mean age at treatment start of 8 years, a target height of -0.8SD, and a final height of 1.04SD, while patients with normal MRI findings had an age at treatment start of 10 years old, a target height of -1.44SD, and a final height of -1.75SD, with statistically significant differences. CONCLUSIONS: Patients with abnormal MRI findings show a more favorable response to GH replacement therapy.

[Efficacy and safety of replacement treatment in isolated growth hormone deficiency]. / Eficacia y seguridad del tratamiento sustitutivo en el déficit aislado de hormona del crecimiento.

INTRODUCTION: Growth in patients with isolated growth hormone (GH) deficiency is heterogeneous despite treatment due to the low specificity of diagnostic tests, making it necessary to define efficacy variables. AIMS: To evaluate efficacy of hormone replacement therapy in children with isolated GH deficiency. METHODS: Observational-ambispective study of patients treated in our department in the last 14 years for isolated GH deficiency. This was defined as a GH level less than 7.4mg/dl in response to 2 stimulation tests in patients with height<2SD and a decreased growth rate. RESULTS: The study included a total 97 patients, of whom 69% were boys. The large majority (89.58%) achieved final height. None of them had side effects. The median dose of GH used was 0.028mg/kg/day (0.03-0.025). There was a gain of 1.17 SD in final height. Around three-quarters (71.13%) of the patients were reassessed in adulthood, of whom 39.4% maintained the deficiency, and 79.31% achieved target range height. Target height, estimated height, and the total pubertal gain were positively correlated with final height, while the bone age/chronological age ratio and the initial insulin-like growth factor-1 showed a negative correlation. CONCLUSIONS: A majority of patients reached target size, although only a few of them maintained the deficiency in adulthood. Target size, estimated adult height, and pubertal variables are directly related to adult height, while bone age/chronological age and insulin-like growth factor-1 were inversely related, and these can be used as efficacy variables. No adverse effects were observed in the sample with the doses used for the treatment.

Recurrent multifocal osteomyelitis in children: Experience in a tertiary care center. / Osteomielitis multifocal recurrente en niños: experiencia de un centro de tercer nivel.

INTRODUCTION: Chronic recurrent multifocal osteomyelitis is a rare aseptic bone inflammation that affects pediatric patients. Its management and treatment have not yet been standardized. METHODS: Retrospective, descriptive study of patients under 14 years of age diagnosed with chronic nonbacterial osteomyelitis (CNBO) in a tertiary hospital. We included patients diagnosed over the last 6 years (2010-2015) who met the Jansson criteria. The clinical and radiological characteristics of CNBO were analyzed, as was the outcome after different therapeutic options. RESULTS: We report 12 patients, with a mean age of 11 years (±1.6 standard deviation [SD]) and female predominance (10:2). The mean number of foci was 3.5 (±2.2 SD). The most common locations were ankle (58%), clavicle (50%), sternum (33%) and hip (25%). The mean disease duration was 10.5 months (±10.3 SD), and the median time to diagnosis was 2.38 months (range 0.17-16). Bone scintigraphy detected asymptomatic foci in 33% and we detected lytic lesions in 50% through magnetic resonance imaging. Biopsy was performed in 60%; 2/12 (16%) were associated with inflammatory disease and 1/12 (8.3%) later developed lymphoma. In all, 58% received antibiotic therapy with little response, 100% anti-inflammatory agents, 50% systemic corticosteroids, 41.6% methotrexate/pamidronate and 16% anti-tumor necrosis factor (TNF) α. The mean duration of treatment was 14.8 months (±12.4 SD) and 66% had recurrences. Currently, 83% are in clinical remission without treatment. CONCLUSIONS: When CNBO is refractory to treatment with anti-inflammatory drugs, intravenous pamidronate can be an alternative. Anti-TNF drugs can be considered in patients who fail with pamidronate, as can agents associated with other autoimmune conditions.