Results 41 to 50 of about 57,538 (217)

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts [PDF]

, 2017
Acknowledgements We sincerely thank the patients and family members who participated in this study. We would also like to thank Stefan Esher, Umeå University, for help with genealogy, and Anna Westerlund for excellent technical assistance.
Ameur, Adam, Coxon, Fraser P., Dahl, Niklas, Hallmans, Göran, Helfrich, Miep H., Henning, Petra, Kellgren, Therese G., Klar, Joakim, Lerner, Ulf H., Lönnerholm, Torsten, McDermott, Emma, Rydén, Patrik, Sandström, Per-Erik, Stattin, Eva-Lena, Stecksen-Blicks, Christina, Wikström, Johan   +15 more
core   +1 more source

Using data from a multi-hospital clinical network to explore prevalence of pediatric rickets in Kenya [version 2; referees: 2 approved]

Wellcome Open Research, 2017
Background: Nutritional rickets is a public health concern in developing countries despite tropical climates and a re-emerging issue in developed countries.
Stella W. Karuri, Maureen K. Murithi, Grace Irimu, Mike English, Clinical Information Network authors   +4 more
doaj   +1 more source

Locating ethnicity and health: exploring concepts and contexts [PDF]

, 2007
With the rapid development of ethnicity and health as a field of sociological research, this paper seeks to re-evaluate the development of ideas around ethnicity, 'race' and culture and consider how they have been applied to the question of health ...
Ahmad, Waqar I. U., Bradby, Hannah
core   +1 more source

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology

Frontiers in Endocrinology
Rickets results from impaired mineralization of growing bone due to alterations in calcium and phosphate homeostasis. Clinical signs of rickets are related to the age of the patient, the duration of the disease, and the underlying disorder.
Giampiero I. Baroncelli, Pasquale Comberiati, Pasquale Comberiati, Tommaso Aversa, Tommaso Aversa, Federico Baronio, Alessandra Cassio, Alessandra Cassio, Mariangela Chiarito, Mirna Cosci o di Coscio, Luisa De Sanctis, Natascia Di Iorgi, Natascia Di Iorgi, Maria Felicia Faienza, Danilo Fintini, Roberto Franceschi, Mila Kalapurackal, Silvia Longhi, Michela Mariani, Marco Pitea, Andrea Secco, Daniele Tessaris, Francesco Vierucci, Malgorzata Wasniewska, Giovanna Weber, Stefano Mora   +25 more
doaj   +1 more source

DO IT Trial: vitamin D Outcomes and Interventions in Toddlers - a TARGet Kids! randomized controlled trial. [PDF]

, 2014
BackgroundVitamin D levels are alarmingly low (<75 nmol/L) in 65-70% of North American children older than 1 year. An increased risk of viral upper respiratory tract infections (URTI), asthma-related hospitalizations and use of anti-inflammatory ...
Birken, Catherine S, Borkhoff, Cornelia M, Hoch, Jeffrey S, Loeb, Mark B, Macarthur, Colin, Maguire, Jonathon L, Mamdani, Muhammad, Mazzulli, Tony, Parkin, Patricia C, TARGet Kids! Collaboration, Thorpe, Kevin   +10 more
core   +3 more sources

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source

Pengamatan Jangka Panjang dan Intervensi Anak dengan Rakhitis dan Hipovitaminosis D

Majalah Kedokteran Andalas
Rickets is associated with impaired calcium and phosphate homeostasis, which can lead to short stature and joint deformities. Nutritional rickets results from deficiencies of vitamin D, calcium and phosphate. Vitamin D regulates calcium and phosphorus in
Toni Kurniawan, Eka Agustia Rini, Asrawati Asrawati   +2 more
doaj   +1 more source

Convulsions as primary manifestation of nutritional rickets [PDF]

Al Ameen Journal of Medical Sciences, 2013
Introduction: Rickets is diagnosed based on classical clinical features like craniotabes, rachitic rosary, widening of wrist joints, pot belly, hypotonia, bowed legs and supported by the laboratory evidence of hypocalcemia, hypophosphatemia, and raised ...
B.P. Karunakara, M. Sharanabasavesh, P.P. Maiya, H.B. Mallikarjuna   +3 more
doaj  

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, EarlyView.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
doaj   +1 more source