This single-center retrospective study aimed to investigate the genetic factors contributing to neonatal and pediatric pulmonary hypertension in a Chinese population using trio whole-exome sequencing (trio-WES).

Some infants with urinary tract infection (UTI) may exhibit concurrent bacteremia, potentially leading to septic shock or bacterial meningitis. Identifying risk factors for bacteremia in infants with UTI is crucial for prompt intervention to prevent subsequent adverse outcomes.

Emerging antenatal risk factors have been associated with an increased risk of kidney disease throughout the offspring's life course. However, the intricate kidney programming mechanisms underlying these risks remain complex and are incompletely understood, but they are rooted in structural and functional alterations within the kidneys. The Developmental Origins of Health and Disease (DOHaD) theory underscores the significance of elucidating core mechanisms initiated through the maternal-fetal interface, which trigger kidney programming. Furthermore, it offers a promising avenue for preventing kidney disease at its earliest stages through a process known as reprogramming. This concise review aims to synthesize existing knowledge regarding the impact of kidney programming on offspring kidney disease and to provide an overview of documented reprogramming strategies as observed in animal models of kidney programming. By consolidating this information, we aim to expedite the translation of research breakthroughs into practical clinical solutions, ultimately resulting in enhanced outcomes for children facing kidney-related issues.

A febrile urinary tract infection (UTI) is a minor febrile seizure (FS) determinant. Seizures precipitated by febrile UTIs in neonates and infants frequently surprise parents, as they are vulnerable to bacterial meningitis and younger than the usual ages of FS. However, their frequency and characteristics are relatively unknown.

Alport syndrome (AS) is the second common monogenic cause of end-stage kidney disease (ESKD) worldwide and is caused by defective type 4 collagen due to pathogenic variants of COL4A3, COL4A4, or COL4A5. Type 4 collagen also exists in the eyes and ears, and thus ocular defects and hearing loss occur in AS. The understanding of AS has expanded over the past two decades due to greater availability of genetic testing and research on genotype-phenotype correlation. Patients previously diagnosed with idiopathic steroid resistant nephrotic syndrome or ESKD of unknown etiology may now be diagnosed as AS if pathogenic COL4A3-5 variants are identified. Some carriers of heterozygous COL4A3-5 variants may now be classified into females with X-linked AS or autosomal dominant AS, if there are typical pathologic changes in the glomerular basement membrane or if there is proteinuria and progression of kidney disease. Lastly, it has been recommended that renin-angiotensin-aldosterone system inhibition be started as soon as possible for selected AS patients for its long-term protective effect against kidney function deterioration. The purpose of this review is to introduce these important concepts to general pediatricians and pediatric nephrologists.

Idiopathic nephrotic syndrome (INS) is a relatively common renal disorder of childhood characterized by severe proteinuria and associated hypoproteinemia and edema. Although the pathogenesis of INS remains unknown, the prevailing theory of its pathogenesis is as follows. Antigenic stimulation, such as viral infections or vaccines, in children with susceptibility factors for INS triggers abnormal immune responses, resulting in production of pathogenic substances that injure podocytes (renal glomerular epithelial cells). The injured podocytes then change their function and morphology, resulting in increased permeability of plasma proteins. Consequently, plasma proteins, especially albumin, are leaked into urine and massive proteinuria ensues. Research on susceptibility factors for INS has focused on polymorphisms in several genes including human leukocyte antigen class II genes. However, we propose that dysbiosis of the intestinal microbiota could be a susceptibility factor for relapse. This proposal is based on our research group finding that children with INS and frequent relapses have gut dysbiosis characterized by a decreased proportion of beneficial bacteria such as short-chain fatty acid-producing bacteria. Dysbiosis from the neonatal period to infancy may result from environmental factors, such as cesarean section delivery and antibiotic administration, which prevent the establishment of a normal intestinal microbiota. Dysbiosis leads to aberrant gut immunity and is characterized by a decreased ratio of T helper 1 cells/T helper 2 cells and an increased ratio of T helper 17 cells/regulatory T-cells. Therefore, relapse occurs when immunologically pathogenic factors that injure podocytes are produced in response to trigger events in children with INS and gut dysbiosis. Our recent clinical trial suggested that long-term oral administration of butyric acid-producing bacterium as a probiotic is promising for suppressing relapse. Therefore, studying the causal relationship between dysbiosis and relapses in patients with INS in a larger number of patients is necessary.

Babies born in winter have greater incidence of developmental dysplasia of the hip (DDH) and related surgeries. How weather conditions impact hip development and how screening program reacts weather issue remain unknown. This study tests a hypothesis that winter born babies have more newborn acetabular dysplasia and laxity that is responsible of later DDH.

Current practice regarding timing of feed initiation and feed tolerance largely relies on anecdotal practice and protocols. This study aims to provide an objective measure to guide clinical practice by analyzing changes in splanchnic regional oxygen saturation and Doppler patterns with feeds.

Unlike in adult and pediatric patients, the usefulness of lactate in preterm infants has not been thoroughly discussed. This study aimed to evaluate whether the lactate level in the first hours of life is an important factor associated with neonatal death in very-low-birth-weight (VLBW) preterm infants.

The etiopathogenesis of appendicitis is still not fully understood. Few reports have researched the impact of weather as a cofactor for the development of appendicitis.

Hypothyroidism is associated with atherosclerosis, which is attributed mainly to an atherogenic lipid profile. Increased intima-media thickness (IMT) is the first structural change detected in atherosclerosis. This prospective cohort study investigated lipid profile and abdominal aorta IMT in patients newly-diagnosed with hypothyroidism and their change one year post-treatment. It included fifty patients divided into three groups according to their diagnosis: congenital hypothyroidism (CH), Acquired and CH stopped treatment/uncontrolled group. They were subjected to history, auxological, blood pressure, non-fasting lipid profile, and abdominal aorta IMT measurement by abdominal ultrasound. These demonstrated high basal cholesterol, triglycerides, and LDL (259.64 ± 82.06, 193.94 ± 71.54, and 144.70 ± 48.46 mg/dl, respectively) and significant reduction after treatment (216.66 ± 44.60, 165.70 ± 53.58 and 123.26 ± 29.79 mg/dl, respectively). Low basal HDL (47.92 ± 10.08 mg/dl) increased significantly (57.56 ± 7.94 mg/dl) after treatment. Abdominal aorta IMT decreased significantly after treatment and achievement of euthyroidism (1.47 ± 0.49 and 1.33 ± 0.41 mm, respectively). In conclusion, upon treatment of hypothyroidism and achievement of euthyroidism, abdominal aorta IMT, cholesterol, triglycerides, and LDL decreased significantly, and HDL increased. Abdominal aorta IMT measurement is an easy and feasible way for the early detection of atherosclerosis.

The increasing prevalence of antimicrobial-resistant Escherichia coli (E. coli) in the community is a global public health challenge. This study investigated the prevalence of third-generation cephalosporin-resistant (3GCR) E. coli fecal carriage in children, identified associated risk factors, and determined antimicrobial resistance patterns of E. coli across three regions of Taiwan.