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View article: Neonatal diabetes–associated missense PDX1 variant disrupts chromatin association and protein-protein interaction
Neonatal diabetes–associated missense PDX1 variant disrupts chromatin association and protein-protein interaction Open
PDX1 mutations are associated with multiple forms of diabetes, including syndromic, neonatal, mature onset diabetes of the young (MODY), and type 2 diabetes. Two PDX1 missense mutations (Thr151Met and Asn196Thr) were identified in a pediat…
View article: A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant Open
Background: Multiple genes can disrupt hypothalamic–pituitary axis development, causing multiple pituitary hormone deficiencies (MPHD). Despite advances in next-generation sequencing (NGS) identifying over 30 key genes, 85% of cases remain…
View article: Paliperidone-Induced Massive Asymptomatic Creatine Kinase Elevation in Youth: From a Case Report to Literature Review
Paliperidone-Induced Massive Asymptomatic Creatine Kinase Elevation in Youth: From a Case Report to Literature Review Open
Background/Objectives: Unlike rhabdomyolysis and neuroleptic malignant syndrome (NMS), massive asymptomatic creatine kinase elevation (MACKE) represents a condition commonly detected during routine screening in patients receiving antipsych…
View article: Long-term safety and effectiveness of a somatropin biosimilar (Omnitrope®) in children requiring growth hormone therapy: analysis of final data of Italian patients enrolled in the PATRO children study
Long-term safety and effectiveness of a somatropin biosimilar (Omnitrope®) in children requiring growth hormone therapy: analysis of final data of Italian patients enrolled in the PATRO children study Open
This final analysis extends the interim analysis findings from the PATRO Children study and confirms the long-term safety and effectiveness of Omnitrope® in Italian pediatric patients with growth disturbances.
View article: Seasonality in Type 1 Diabetes Mellitus and Other Autoimmune Diseases Based on Severity of Immunity: Elucidating the Etiology with 40 years of Analysis
Seasonality in Type 1 Diabetes Mellitus and Other Autoimmune Diseases Based on Severity of Immunity: Elucidating the Etiology with 40 years of Analysis Open
Purpose: Some studies discuss the seasonality of T1DM, none of them evaluate this relationship based on the severity of immune response.We aimed to elucidate the role of the severity of autoimmunity and environmental factors in the etiolog…
View article: Novel human PDX1 Asn196Thr variant causes pancreas agenesis and reduces the generation of duodenal enteroendocrine cells
Novel human PDX1 Asn196Thr variant causes pancreas agenesis and reduces the generation of duodenal enteroendocrine cells Open
Introduction/Objective Pancreatic and duodenal homeobox 1 (PDX1) is a well-studied transcription factor required for pancreas organogenesis. PDX1 mutations are associated with the development of diabetes. An 8-month-old female patient with…
View article: Effectiveness of Smartphone App for the Treatment of Pediatric Obesity: A Randomized Controlled Trial
Effectiveness of Smartphone App for the Treatment of Pediatric Obesity: A Randomized Controlled Trial Open
Background: Pediatric obesity treatment is based on high-intensity lifestyle counseling. However, high dropout rates and low effectiveness have been reported, even in specialized centers. Mobile health technologies have been used to overco…
View article: Severe Obesity Defined by Percentiles of WHO and Cardiometabolic Risk in Youth with Obesity
Severe Obesity Defined by Percentiles of WHO and Cardiometabolic Risk in Youth with Obesity Open
Background/Objectives: The pediatric definition of severe obesity (OB) depends on the body mass index (BMI) references. We evaluated different BMI derived metrics of the World Health Organization (WHO) system to define which cut-off is ass…
View article: Heart rate to identify non-febrile children with dehydration and acute kidney injury in emergency department: a prospective validation study
Heart rate to identify non-febrile children with dehydration and acute kidney injury in emergency department: a prospective validation study Open
We previously developed and retrospectively validated the estimated percentage of heart rate variation (EHRV) as a predictor of the composite outcome of ≥ 5% dehydration and/or acute kidney injury (AKI) in non-febrile children. The current…
View article: Acute Kidney Injury in Children: A Focus for the General Pediatrician
Acute Kidney Injury in Children: A Focus for the General Pediatrician Open
Acute kidney injury (AKI) presents significant challenges in pediatric care, often remaining underrecognized. This paper provides an overview of pediatric AKI, highlighting its epidemiology, pathophysiology, diagnosis, predisposing conditi…
View article: Effectiveness of Smartphone App for the treatment of Pediatric Obesity: A Prospective Longitudinal Study
Effectiveness of Smartphone App for the treatment of Pediatric Obesity: A Prospective Longitudinal Study Open
Background: Pediatric obesity treatment is based on high-intensity lifestyle counseling. However, high dropout rates and low effectiveness have been reported even in specialized centers. Mobile health technologies have been used in researc…
View article: Whole-Body Hypothermia vs Targeted Normothermia for Neonates With Mild Encephalopathy
Whole-Body Hypothermia vs Targeted Normothermia for Neonates With Mild Encephalopathy Open
Importance Although whole-body hypothermia is widely used after mild neonatal hypoxic-ischemic encephalopathy (HIE), safety and efficacy have not been evaluated in randomized clinical trials (RCTs), to our knowledge. Objective To examine t…
View article: Acute kidney injury in children hospitalised for febrile urinary tract infection
Acute kidney injury in children hospitalised for febrile urinary tract infection Open
Aim To determine (i) prevalence and the risk factors for acute kidney injury (AKI) in children hospitalised for febrile urinary tract infection (fUTI) and (ii) role of AKI as indicator of an underlying VUR. AKI, in fact, is favoured by a r…
View article: Interplay between metabolic dysfunction-associated fatty liver disease and renal function: An intriguing pediatric perspective
Interplay between metabolic dysfunction-associated fatty liver disease and renal function: An intriguing pediatric perspective Open
Over recent years, the nomenclature of non-alcoholic fatty liver disease has undergone significant changes. Indeed, in 2020, an expert consensus panel proposed the term “Metabolic (dysfunction) associated fatty liver disease” (MAFLD) to un…
View article: Whole-Blood Gene Expression Profile After Hypoxic-Ischemic Encephalopathy
Whole-Blood Gene Expression Profile After Hypoxic-Ischemic Encephalopathy Open
Importance Induced hypothermia, the standard treatment for hypoxic-ischemic encephalopathy (HIE) in high-income countries (HICs), is less effective in the low-income populations in South Asia, who have the highest disease burden. Objective…
View article: The <scp><i>lncOb</i></scp> rs10487505 polymorphism impairs insulin sensitivity and glucose tolerance in children and adolescents with obesity
The <span><i>lncOb</i></span> rs10487505 polymorphism impairs insulin sensitivity and glucose tolerance in children and adolescents with obesity Open
Objective Leptin plays a key role in the regulation of body weight and other endocrine systems. Recently, impairment of leptin gene transcription due to genetic variations in a long noncoding RNA ( lncOb ) has been described. This retrospe…
View article: Hypoglycaemia and hyperglycaemia in neonatal encephalopathy: a systematic review and meta-analysis
Hypoglycaemia and hyperglycaemia in neonatal encephalopathy: a systematic review and meta-analysis Open
Importance Although hypoglycaemia and hyperglycaemia represent the most common metabolic problem in neonates, there is still uncertainty regarding the effects of glucose homoeostasis on the neurological outcomes of infants with neonatal en…
View article: From Clinical Scenarios to the Management of Lower Urinary Tract Symptoms in Children: A Focus for the General Pediatrician
From Clinical Scenarios to the Management of Lower Urinary Tract Symptoms in Children: A Focus for the General Pediatrician Open
Lower urinary tract symptoms (LUTS) are a relevant problem in the pediatric population, having a very high prevalence. Diurnal incontinence and nocturnal enuresis are surely the most frequent symptoms, presenting, respectively, in up to 30…
View article: Early-in-Life Serum Aldosterone Levels Could Predict Surgery in Patients with Obstructive Congenital Anomalies of the Kidney and Urinary Tract: A Pilot Study
Early-in-Life Serum Aldosterone Levels Could Predict Surgery in Patients with Obstructive Congenital Anomalies of the Kidney and Urinary Tract: A Pilot Study Open
The aim of the study was to evaluate whether serum aldosterone levels or plasmatic renin activity (PRA) measured early in life (1–3 months) could predict a future surgical intervention for obstructive congenital anomalies of kidney and uri…