COVID-19 in children: clinical and epidemiological spectrum in the community.

Most publications on pediatric COVID-19 in Spain were performed at the beginning of the pandemic when some diagnostic tools were not widely available. This study aims to show the real spectrum of the infection based on wide detection of cases due to symptoms and contact tracing. A descriptive and analytical observational study was performed including pediatric cases (0 to 14 years) from the region of Aragón between May 12 and October 31, 2020. Diagnostics was by PCR detection of viral RNA, rapid antigen detection test, or positive IgG serology. There were 5933 positive children included. Of them, 49.03% were women. The mean age was 7.53 ± 4.28 years. The source of infection could not be determined in 17.8% of cases. As for the rest, was determined to be within the family environment in 67.8%. The percentage of asymptomatic patients was 50.3%. Among symptomatic patients, fever (58.1%) and cough (46.7%) were the most frequent symptoms. Hospitalization was required in 0.52% of infected, intensive care unit admission was on 0.05%, and there was one death (0.02%). Children under the age of one presented some symptoms more frequently (71.6% vs 48.5%; OR 2.68; 95% CI 2.08 to 3.45; p < 0.001) and required more hospitalizations (3.9% vs 0.34%; OR 11.52; 95% CI 5.65 to 23.52; p < 0.001).Conclusion: In our environment, SARS-CoV-2 infection is like other mild respiratory viral infections in the population under the age of 15. The contagion occurs mainly in the family environment, the number of asymptomatic is high, being the symptoms mild and the complications very infrequent. What is Known: • Pediatric infection produced by SARS-CoV-2 has manifested as a mild disease in relation to adult age, although with higher affectation at the youngest ages. • Nearly all studies on epidemiology and clinical spectrum of the disease were conducted with patients diagnosed at the beginning of the pandemic. By then, diagnostic tools were only available in hospitals and in emergency units. What is New: • Once diagnostic means were available in primary care medicine and were used not only for the diagnosis of clinical symptoms of the patient, but for the tracing of case contacts, a much more precise approach to the epidemiology and clinical manifestations of the disease was allowed, as described in this study.

Growth hormone deficit. Does the first year of treatment influence adult height?

INTRODUCTION: Short stature is the most frequent reason for Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. OBJECTIVE: The possible correlation of a good response to any early response factor with a better final response was studied, and also whether there was a difference in response to treatment according to the type of deficit. PATIENTS AND METHODS: This was a longitudinal, retrospective and observational study of 139 patients treated for idiopathic growth hormone deficiency up to adult height. There were good response criteria in the first year of treatment: a) an increase in growth rate ≥3 cm/year, b) a growth rate ≥1 standard deviation (SD), c) an increase in height ≥0.5 SD, d) an increase in height ≥0.3 SD. Study of the Index of Responsiveness to treatment in the first and second year. Final response variables: adult height with respect to target height, adult height with respect to initial growth prediction and adult height with respect to initial height at the start of treatment. The possible correlation of a good response to any of the early response factors with a better final response to treatment was studied, and also whether there was a difference in the response to treatment according to the type of deficit. RESULTS: The treatment produced a gain in adult height with respect to genetic height of 0.06 ±â€¯0.7 SD. Patients considered good responders in the first year of treatment presented a better final response (growth rate ≥3 cm: p = 0.000, growth rate ≥1 SD: p = 0.008, height gain ≥0.5 SD: p = 0.007, height gain ≥0.3 SD: p = 0.006), as well as patients with a severe deficit (p = 0.04). The index of responsiveness to treatment during the first year was associated with a better final response (r = 0.249, p = 0.003), with this correlation being maintained in the second year (r = 0.294, p = 0.01). CONCLUSIONS: Growth hormone treatment increased height in the genetic target. The percentage of good responders varied depending on the criteria used. The response in the first year of treatment and a severe deficit were determining factors for achieving a good long-term response.

Growth hormone deficit. Does the first year of treatment influence adult height? / Déficit de hormona de crecimiento, ¿influye el primer año de tratamiento en la talla final?

INTRODUCTION: Short stature is the most frequent reason for Pediatric Endocrinology consultations and sometimes requires treatment with growth hormone. OBJECTIVE: The possible correlation of a good response to any early response factor with a better final response was studied, and also whether there was a difference in response to treatment according to the type of deficit. PATIENTS AND METHODS: This was a longitudinal, retrospective and observational study of 139 patients treated for idiopathic growth hormone deficiency up to adult height. There were good response criteria in the first year of treatment: a) an increase in growth rate≥3cm / year, b) a growth rate≥1 standard deviation (SD), c) an increase in height≥0.5 SD, d) an increase in height≥0.3 SD. Study of the Index of Responsiveness to treatment in the first and second year. Final response variables: adult height with respect to target height, adult height with respect to initial growth prediction and adult height with respect to initial height at the start of treatment. The possible correlation of a good response to any of the early response factors with a better final response to treatment was studied, and also whether there was a difference in the response to treatment according to the type of deficit. RESULTS: The treatment produced a gain in adult height with respect to genetic height of 0.06±0.7 SD. Patients considered good responders in the first year of treatment presented a better final response (growth rate≥3cm: p=0.000, growth rate≥1 SD: p=0.008, height gain≥0.5 SD: P=0.007, height gain≥0.3 SD: P=0.006), as well as patients with a severe deficit (P=0.04). The index of responsiveness to treatment during the first year was associated with a better final response (r=0.249, P=0.003), with this correlation being maintained in the second year (r=0.294, P=0.01). CONCLUSIONS: Growth hormone treatment increased height in the genetic target. The percentage of good responders varied depending on the criteria used. The response in the first year of treatment and a severe deficit were determining factors for achieving a good long-term response.

HiperCKemia persistente asintomática en edad pediátrica. Diagnóstico de miopatía central core sin biopsia muscular / Asymptomatic hyperCKemia in children. Central core disease with non-diagnostic muscle biopsy

INTRODUCCIÓN: la elevación persistente de creatinfosfoquinasa (CK) puede constituir la primera manifestación de una patología muscular subyacente. Su correcto abordaje permite un adecuado tratamiento precoz, asesoramiento familiar e información sobre su pronóstico y sus complicaciones. CASO CLÍNICO: niño de siete años, asintomático, con elevación de CK como hallazgo casual en una analítica de rutina, persistiendo en controles seriados. Exploración física normal. Tras un estudio metabólico completo normal, se solicita estudio genético dirigido a descartar distrofinopatías u otras miopatías. Se observa una mutación en el gen RYR1, c.9912C>A; p. (Cys3304*), variante probablemente patogénica compatible con miopatía congénita de cores centrales (#MIM11700). Ante un diagnóstico genético en paciente asintomático, se evita la realización de otras técnicas invasivas. CONCLUSIONES: la miopatía congénita de cores centrales es la patología neuromuscular congénita más frecuente. Se relaciona con la presencia de mutaciones en el gen RYR1 (90% de los pacientes). Pertenece a la familia de los canales liberadores de calcio iónico, cuyo papel es fundamental en el fenómeno de acoplamiento excitación-contracción muscular. Su diagnóstico clásico era la biopsia muscular. Está asociado a complicaciones como hipertermia maligna o rabdomiolisis

INTRODUCTION: persistently elevated serum creatine kinase levels may lean the first manifestation of an underlying neuromuscular disease. Its appropriate approach allows an adequate early treatment, a genetic counselling and information concerning complications and prognosis. CASE DESCRIPTION: our patient was an asymptomatic 7-year-old boy with persistent serum CK elevation. He had a normal physical examination. After a normal metabolic study, a specific genetic study for dystrophinopaties or other myopathies was requested. A variant of uncertain significance mutation [RYR1, c.9912C>A; p. (Cys3304*)] associated with central core disease (#MIM11700) was obtained. Before this genetic diagnosis the invasive testing was rejected. DISCUSSION: central core disease is the most frequent congenital neuromuscular disease. About 90% of cases are linked to RYR1 gene mutations. RYR1 protein is a part of macromolecular complex deputed to excitation-contraction coupling through Ca2+ channels. Its diagnosis is confirmed by histological examination. CCD is associated to malignant hyperthermia and rabdomiolisis susceptibility

Episodio de hipotonía e hiporrespuesta en el lactante / Hypotonic-hyporesponsive episode in early childhood

Se conoce como episodio de hipotonía-hiporrespuesta a un evento adverso de baja frecuencia de la vacunación infantil predominantemente del componente antitosferina. Es caracterizado por una pérdida súbita del tono muscular asociada a hiporreactividad a estímulos y a cambios en la coloración de la piel (palidez cutánea o cianosis). Debido a que es una entidad poco conocida, secundaria a mecanismos fisiopatológicos desconocidos y con diagnóstico por exclusión, adquiere una mayor importancia el conocimiento por el profesional sanitario de este evento, para elaborar un adecuado diagnóstico diferencial de episodios colapsiformes, evitar pruebas o medidas innecesarias y prevenir el miedo poblacional a las vacunas

Hypotonic-hyporesponsive episode is known as a rare vaccine adverse event in early childhood, mainly associated with antipertussis component. It is characterized by a sudden onset of reduced muscle tone, hyporesponsiveness and change of skin color (paleness or cyanosis). Because of being a little-known event with unknown pathophysiological mechanisms and a diagnosis by exclusion, its knowledge by the health professional takes on even greater importance for making an adequate differential diagnosis, avoiding unnecessary tests and preventing fear of vaccination in the society