The last decade has seen an increasing trend in consumer preference of bottled water over tap water. Little is known what type of water children and adolescents prefer for drinking and what their parents think of their community tap water. The study objective was to assess drinking water preferences, perceptions of the qualities of tap water and bottled water, and fluoride knowledge in an urban pediatric population. We conducted an anonymous survey of a convenience sample of caretakers of children and adolescents at an urban clinic regarding their preferences for tap or bottled water, their perceptions of the quality of tap and bottled water and their knowledge of fluoride. Of the 208 participants (79% African American, 9% Latino), 59% drank tap water, 80% bottled water. Only 17% drank tap water exclusively, 38% drank bottled water exclusively, 42% drank both. We found no significant differences in water preferences across age groups, from infancy to adulthood, or among ethnic groups. Ratings for taste, clarity, purity and safety were significantly higher for bottled water than tap water (P< 0.001). Only 24% were aware of fluoride in drinking water. We conclude bottled water was preferred over tap water in an urban minority pediatric population. Perceptions of the qualities of water seemed to drive drinking preferences. Public health strategies are needed to increase public awareness of the impact of bottled water consumption on oral health, household budgets and the environment.

Growth hormone (GH) treatment of idiopathic short stature (ISS), defined as height <−2.25 standard deviations (SD), is approved by U.S. FDA. This study determined the gender-specific prevalence of height <−2.25 SD in a pediatric primary care population, and compared it to demographics of U.S. pediatric GH recipients. Data were extracted from health records of all patients age 0.5–20 years with ≥ 1 recorded height measurement in 28 regional primary care practices and from the four U.S. GH registries. Height <−2.25 SD was modeled by multivariable logistic regression against gender and other characteristics. Of the 189,280 subjects, 2073 (1.1%) had height <−2.25 SD. No gender differences in prevalence of height <−2.25 SD or distribution of height Z-scores were found. In contrast, males comprised 74% of GH recipients for ISS and 66% for all indications. Short stature was associated (P < 0.0001) with history of prematurity, race/ethnicity, age and Medicaid insurance, and inversely related (P < 0.0001) with BMI Z-score. In conclusion, males outnumbered females almost 3:1 for ISS and 2:1 for all indications in U.S. pediatric GH registries despite no gender difference in height <−2.25 SD in a large primary care population. Treatment and/or referral bias was the likely cause of male predominance among GH recipients.

By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone demethylase and is involved in H3K9 demethylation, a crucial part of chromatin modification required for transcriptional regulation. We identified missense and truncating variants, suggesting that KDM3B haploinsufficiency is the underlying mechanism for this syndrome. By using a hybrid facial-recognition model, we show that individuals with a pathogenic variant in KDM3B have a facial gestalt, and that they show significant facial similarity compared to control individuals with ID. In conclusion, pathogenic variants in KDM3B cause a syndrome characterized by ID, short stature, and facial dysmorphism.

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RESUMENEl hipotiroidismo congénito (HC) es la principal causa prevenible de retardo mental. La prevalencia de HC varía de acuerdo con la región geográfica y la población racial. En el hemisferio norte, la incidencia es 1:4000 recién nacidos vivos. En Latinoamérica, la incidencia varía debido a la heterogeneidad racial/étnica y al nivel de desarrollo. En el Perú, un estudio realizado en 1984 describió esta prevalencia como 1:1250. En el 2007, esta prevalencia fue reportada como 1:1638 por el Instituto Nacional Materno Perinatal. Un reciente estudio del Instituto Nacional de Salud del Niño durante 1995-2005, describió la edad promedio de diagnóstico de HC como 5,9 meses +/-5,28. Esta tardía edad de diagnóstico sugiere la poca eficiencia de los actuales programas de tamizaje. Todo niño peruano tiene derecho a recibir diagnóstico oportuno y tratamiento de HC y es el Estado Peruano, el responsable principal de asegurar que esta meta se cumpla.Palabras clave: Hipotiroidismo congénito; Tamizaje neonatal; Niño, Perú (fuente: DeCS BIREME). NATIONAL CONGENITAL HYPOTHYROIDISM SCREENING IN PERU: A BROKEN PROGRAM ABSTRACTCongenital hypothyroidism (CH) is the most important cause of preventable mental retardation. The prevalence of CH varies by geographic region, race and ethnicity. In the countries of the Northern hemisphere, the prevalence has been reported as 1:4,000 live newborns. The prevalence is remarkably different among the countries of Latin America not only because of their different races and ethnicities but also because of the heterogeneous social-economic development. The prevalence of CH in 1984 in Peru was reported as 1:1250. In 2007, the reported incidence by the Instituto Nacional Materno Perinatal was 1:1638. A recent retrospective study performed by the Instituto Nacional de Salud del Niño in Lima, Peru described the average age of diagnosis of CH as 5,9 months +/-5,28. This late age of CH diagnosis certainly suggests the poor efficiency of the current neonatal CH screening programs in Peru. Every Peruvian infant deserves a timely newborn screening and treatment for CH. The Peruvian government is responsible for ensuring this mandatory goal is achieved promptly.

Diabetes is an increasingly common chronic metabolic disorder in children worldwide. The discovery of insulin in 1921 resulted in unprecedented advancements that improved the lives of children and youth with diabetes. The purpose of this article is to review the history of diabetes in children and youth over the last century and its implications for future developments in the field. We identified 68 relevant events between 1921 and 2021 through literature review and survey of pediatric endocrinologists. Basic research milestones led to the discovery of insulin and other regulatory hormones, established the normal physiology of carbohydrate metabolism and pathophysiology of diabetes, and provided insight into strategies for diabetes prevention. While landmark clinical studies were initially focused on adult diabetes populations, later studies assessed etiologic factors in birth cohort studies, evaluated technology use among children with diabetes, and investigated pharmacologic management of youth type 2 diabetes. Technological innovations culminated in the introduction of continuous glucose monitoring that enabled semi-automated insulin delivery systems. Finally, professional organizations collaborated with patient groups to advocate for the needs of children with diabetes and their families. Together, these advances transformed type 1 diabetes from a terminal illness to a manageable disease with near-normal life expectancy and increased our knowledge of type 2 diabetes and other forms of diabetes in the pediatric population. However, disparities in access to insulin, diabetes technology, education, and care support remain and disproportionately impact minority youth and communities with less resources. The overarching goal of diabetes management remains promoting a high quality of life and improving glycemic management without undermining the psychological health of children and youth living with diabetes.