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Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.
Ther Adv Respir Dis
January 2025
Division of Pulmonary and Sleep Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way NE, OC 7.730, Seattle, WA 98105, USA.
Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.
View Article and Find Full Text PDFClinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Nat Rev Nephrol
January 2025
APHP, Reference Center for Rare Diseases of Calcium and Phosphate Metabolism, and Filière OSCAR, endo ERN and ERN BOND, Paris, France.
X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.
View Article and Find Full Text PDFPediatric Nephrolithiasis: A Changing Landscape Through Time and Space.
Medicina (Kaunas)
December 2024
Pediatric Unit, Department of Surgical Sciences, Destiny, Gynecology and Pediatrics, University of Verona, 37126 Verona, Italy.
Pediatric nephrolithiasis is an ancient and complex disorder that has seen a significant rise in recent decades and the underlying causes contributing to stone formation in children may also be shifting. Historically, kidney stones have been linked to factors such as metabolic disorders, congenital abnormalities, and family history. However, the recent increase in incidence appears to be associated with new risk factors, including changes in lifestyle and diet, the growing prevalence of obesity, metabolic syndrome, diabetes, and even climate change.
View Article and Find Full Text PDFPatients with a Wide Range of Disorders Related to Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.
Genes (Basel)
December 2024
Department of Clinical Genetics, Medical University of Lodz, Pomorska Str. 251, 92-213 Lodz, Poland.
-spectrum disorders are caused by a mutation in the gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a single causative variant in the gene, such as Wolfram-like syndrome, low-frequency sensorineural hearing loss (LFSNHL), isolated diabetes mellitus (DM), nonsyndromic optic atrophy (OA), and isolated congenital cataracts. The aim of this study was to evaluate genotype-phenotype correlations in Polish patients with -spectrum disorders.
View Article and Find Full Text PDFAcquired cystic kidney disease in children with kidney failure.
Pediatr Nephrol
January 2025
Paediatric Nephrology Centre, Hong Kong Children's Hospital, Hong Kong, Hong Kong SAR.
Background: This study aimed to evaluate the incidence, contributing factors, and clinical outcomes of acquired cystic kidney disease (ACKD) in children undergoing kidney replacement therapy (KRT).
Methods: We conducted a cross-sectional, territory-wide study at the designated pediatric nephrology center in Hong Kong. ACKD was defined as the presence of ≥ 3 cysts in the native kidneys, excluding congenital or hereditary cystic diseases.
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