Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.

In a randomized, open-label phase 3 study of 61 children aged 1-12 years old with X-linked hypophosphatemia (XLH) previously treated with conventional therapy, changing to burosumab every 2 weeks (Q2W) for 64 weeks improved the phosphate metabolism, radiographic rickets, and growth compared with conventional therapy. In this open-label extension period (weeks 64-88), 21 children continued burosumab Q2W at the previous dose or crossed over from conventional therapy to burosumab starting at 0.8 mg/kg Q2W with continued clinical radiographic assessments through week 88.

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.

Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT).

Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%).

Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia.

Background: Schimke immuno-osseous dysplasia (SIOD) is a rare systemic disease characterized by short stature, proteinuria, and recurrent infections. Patients usually have spondyloepiphyseal dysplasia, and progressive steroid-resistant nephropathy that leads to kidney failure. However, their clinical course after kidney transplantation (KT) is not yet well known.

Predicting Fatigue-Associated Aberrant Driving Behaviors Using a Dynamic Weighted Moving Average Model With a Long Short-Term Memory Network Based on Heart Rate Variability.

Objective: This study proposed a moving average (MA) approach to dynamically process heart rate variability (HRV) and developed aberrant driving behavior (ADB) prediction models by using long short-term memory (LSTM) networks.

Background: Fatigue-associated ADBs have traffic safety implications. Numerous models to predict such acts based on physiological responses have been developed but are still in embryonic stages.

Generation of a human induced pluripotent stem cell line from a patient with dent disease.

Dent disease, an X-linked tubular disorder, is a rare condition that leads to low-molecular-weight proteinuria, hypercalciuria, kidney stones, and chronic kidney disease. Here, we successfully established a human induced pluripotent stem cells (hiPSC) line from peripheral blood mononuclear cells of 10-year-old male with Dent disease 1 caused by the mutation of Chloride Voltage-Gated Channel 5 gene. This hiPSCs displayed features similar to human embryonic stem cells, including pluripotency-associated markers expression, normal karyotype, and the ability to differentiate into cells representing all three germ layers.

Corrigendum: Long-term outcome of Bartter syndrome in 54 patients: a multicenter study in Korea.

[This corrects the article DOI: 10.3389/fmed.2023.

Long-term outcome of Bartter syndrome in 54 patients: A multicenter study in Korea.

Introduction: Bartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of the loop of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Potassium and/or sodium supplements, potassium-sparing diuretics, and nonsteroidal anti-inflammatory drugs can be used to treat BS.

Machine learning model for aberrant driving behaviour prediction using heart rate variability: a pilot study involving highway bus drivers.

Current approaches via physiological features detecting aberrant driving behaviour (ADB), including speeding, abrupt steering, hard braking and aggressive acceleration, are developing. This study proposes using machine learning approaches incorporating heart rate variability (HRV) parameters to predict ADB occurrence. .

Correction: Park et al. Genetic Study in Korean Pediatric Patients with Steroid-Resistant Nephrotic Syndrome or Focal Segmental Glomerulosclerosis. 2020, , 2013.

In the original article [...

Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.

Context: Younger age at treatment onset with conventional therapy (phosphate salts and active vitamin D; Pi/D) is associated with improved growth and skeletal outcomes in children with X-linked hypophosphatemia (XLH). The effect of age on burosumab efficacy and safety in XLH is unknown.

Objective: This work aimed to explore the efficacy and safety of burosumab vs Pi/D in younger (< 5 years) and older (5-12 years) children with XLH.

Burden of disease of X-linked hypophosphatemia in Japanese and Korean patients: a cross-sectional survey.

The burden of disease of X-linked hypophosphatemia (XLH) in East Asia is poorly understood. This was a cross-sectional study using an online questionnaire to evaluate health-related quality of life (HRQOL) and disease complications in Japanese and Korean patients with XLH. Adults with XLH and the caregivers of children <18 years of age with XLH in Japan and Korea were surveyed.

Renal Syndromic Hearing Loss Is Common in Childhood-onset Chronic Kidney Disease.

Background: Hearing loss (HL) in children may adversely affect their development. HL is more prevalent in patients with chronic kidney disease (CKD) than in the general population. This study evaluated the prevalence of HL and its underlying diseases in patients with childhood-onset in CKD.