Try the Free App:
Prime PubMed app for iOS iPhone iPad
Prime PubMed app for Android
Prime PubMed is provided
free to individuals by:
Unbound Medicine.
16,414 results
  • Diagnosis and Management of Vitamin D Dependent Rickets. [Review]
    Front Pediatr. 2020; 8:315.Levine MA
  • The term "vitamin D dependent rickets" describes a group of genetic disorders that are characterized by early-onset rickets due to the inability to maintain adequate concentrations of active forms of vitamin D or a failure to respond fully to activated vitamin D. Although the term is now admittedly a pathophysiological misnomer, there remains clinical relevance for its continued use, as patients …
  • Renal Tubular Acidosis. [Review]
    Indian J Pediatr. 2020 Jun 26 [Online ahead of print]Bagga A, Sinha A
  • Renal tubular acidosis (RTA) comprises a group of disorders characterized by low capacity for net acid excretion and persistent hyperchloremic metabolic acidosis, despite preserved glomerular filtration rate. RTA are classified into chiefly three types (1, 2 and 4) based on pathophysiology and clinical and laboratory characteristics. Most patients have primary RTA that presents in infancy with po…
  • Global consensus on nutritional rickets: Implications for Australia. [Journal Article]
    J Paediatr Child Health. 2020 Jun; 56(6):841-846.Siafarikas A, Simm P, … APEG Bone and Mineral Working Group
  • In 2016, a global consensus on the prevention, diagnosis and management of nutritional rickets was published. The bone and mineral working group of the Australasian Paediatric Endocrine Group provides a summary and highlights differences to previous Australian and New Zealand (ANZ) guidelines on vitamin D deficiency and their implications for clinicians. Key points are: (i) The International Cons…
  • Pharmacotherapy in Rare Skeletal Diseases. [Journal Article]
    Handb Exp Pharmacol. 2020 Jun 10 [Online ahead of print]Hoyer-Kuhn H, Schönau E
  • New therapeutic approaches have been established in the field of rare skeletal diseases (e.g., for osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia, and fibrodysplasia ossificans progressiva). After elucidation of the underlying genotypes and pathophysiologic alterations of these diseases, new treatment options have been designed. Most drugs are based on an inte…
  • New Therapies for Hypophosphatemia-Related to FGF23 Excess. [Review]
    Calcif Tissue Int. 2020 Jun 05 [Online ahead of print]Athonvarangkul D, Insogna KL
  • FGF23 is a hormone produced by osteocytes in response to an elevation in the concentration of extracellular phosphate. Excess production of FGF23 by bone cells, or rarely by tumors, is the hormonal basis for several musculoskeletal syndromes characterized by hypophosphatemia due to renal phosphate wasting. FGF23-dependent chronic hypophosphatemia causes rickets and osteomalacia, as well as other …
  • Disrupting flight increases sleep and identifies a novel sleep-promoting pathway in Drosophila. [Journal Article]
    Sci Adv. 2020 May; 6(19):eaaz2166.Melnattur K, Zhang B, Shaw PJ
  • Sleep is plastic and is influenced by ecological factors and environmental changes. The mechanisms underlying sleep plasticity are not well understood. We show that manipulations that impair flight in Drosophila increase sleep as a form of sleep plasticity. We disrupted flight by blocking the wing-expansion program, genetically disrupting flight, and by mechanical wing perturbations. We defined a…
  • StatPearls: Genetics, X-Linked Inheritance [BOOK]
    . StatPearls Publishing: Treasure Island (FL) Basta Marina M St. George's University, School of Medicine Pandya Ashish M. AM Saurashtra University Rajkot India. PDU Goverment Medical College & Hospital Rajkot Gujarat India BOOK
  • The X chromosome contains 867 identified genes; most of these genes are responsible for the development of tissues like bone, neural, blood, hepatic, renal, retina, ears, ear, cardiac,  skin, and teeth. There are at least 533 disorders due to the involvement of the genes on the X chromosome.[1] A 'trait' or 'disorder' determined by a gene on the X  chromosome demonstrates X-linked inheritance.  I…
  • NASPGHAN Position Paper: Plant-Based Milks. [Journal Article]
    J Pediatr Gastroenterol Nutr. 2020 May 26 [Online ahead of print]Merritt RJ, Fleet SE, … Turner J
  • Parents and caretakers are increasingly feeding infants and young children plant-based "milk" alternatives to cow milk. The US Food and Drug Administration currently defines "milk" and related milk products by the product source and the inherent nutrients provided by bovine milk. Substitution of a milk that does not provide a similar nutritional profile to cow milk can be deleterious to a child's…
New Search Next