Results 101 to 110 of about 275,515 (341)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Investigating A Child with Failure to Thrive, How Vigilante We Should Be? [PDF]

, 2019
Abdulla Al Amri
openalex   +1 more source

Cluster randomised trials in the medical literature: two bibliometric surveys [PDF]

, 2004
Background: Several reviews of published cluster randomised trials have reported that about half did not take clustering into account in the analysis, which was thus incorrect and potentially misleading.
A Donner, A Donner, A Donner, C Emslie, CM Wright, CR Elley, D Nutbeam, DG Altman, DG Altman, DM Murray, E Rink, G Meyer, J Cornfield, J Martin Bland, JCFM Wetsteyn, JM Bland, JM Bland, JM Simpson, MAH Russell, MJ Gardner, MJ Gardner, MK Campbell, P Isaakidis, S Puffer, SM Eldridge, SM Kerry, SM Kerry, SM Kerry, SP Varnell   +28 more
core   +4 more sources

Early diagnosis of a case of infantile cystic fibrosis and review of literature in Taiwan

Journal of Medical Sciences, 2019
Few cystic fibrosis (CF) cases in Taiwan have been published. We report a case of 2.5-month-old male infant presented recurrent infection, failure to thrive, and nutritional deficiency dermatitis initially.
Hsiao-Chi Lin, Shao-Wei Huang, Ying-Chun Lu, Chih-Chien Wang   +3 more
doaj   +1 more source

The vicious cycle: poor children, risky lives [PDF]

, 2008
The proposed essay will address the question, What are the short and long-term effects of poverty on the development, educational experiences, and life chances of young ...
Mallory, Bruce L.
core   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source

Failure to Thrive, Can this be Bartter’s Syndrome?

Journal of the Dow University of Health Sciences, 2011
A case series of four children, of different age groups, having complaints of polyuria and failure to thrive. These cases include two infants, a toddler and a child and investigations revealed that they had hyponatremia, hypokalemia, hyperchloremia and ...
Nighat Aijaz, Saira Waqar Lone, Nasrul Huda, S. Shakil Ahmed Rizvi, Abdul Gaffar Billoo   +4 more
doaj   +2 more sources

Shwachman–Diamond Syndrome: A Rare Possibility in a Child with Failure to Thrive and Recurrent Infections - A Case Report

Indian Pediatrics Case Reports
Background: Shwachman–Diamond Syndrome (SDS) is a rare inherited autosomal recessive multisystem disorder, with features of pancreatic exocrine insufficiency, skeletal malformations, immunodeficiency, and bone marrow failure having a high risk of myeloid
Vagisha Sharma, Neha Goel, Amitabh Singh, Satnam Kaur   +3 more
doaj   +1 more source

Failure to THRIVE [PDF]

Anaesthesia, 2015
N, Rummens, D R, Ball
openaire   +2 more sources