0024 Recent World Health Organization (WHO)/United Nations Children’s Fund estimates suggest that the number of children with iron-defi ciency anaemia (IDA) is greater than 750 million [1]. Iron defi ciency is the most common preventable nutritional problem despite continued global goals for its control. Historically, the problem of IDA in children largely disappeared in North America when food...

S. Redline and N.A. Berger (eds.), Impact of Sleep and Sleep Disturbances on Obesity and Cancer, Energy Balance and Cancer 8, DOI 10.1007/978-1-4614-9527-7_2, © Springer Science+Business Media New York 2014 Abstract What are the best approaches to reduce the staggering health and economic costs of the diabetes and obesity epidemics? Traditional efforts have centered on diet and exercise, which ...

0024 Recent World Health Organization (WHO)/United Nations Children’s Fund estimates suggest that the number of children with iron-defi ciency anaemia (IDA) is greater than 750 million [1]. Iron defi ciency is the most common preventable nutritional problem despite continued global goals for its control. Historically, the problem of IDA in children largely disappeared in North America when food...

Hemophilia is a rare bleeding disorder that is attributed to a defi ciency of coagulation factors VIII, IX and XI. This defi ciency leads to a tendency of moderate to severe bleeding. This disorder occurs mainly in males, who represent 97.32% of cases.1 Hemophilia A is caused by a factor VIII (FVIII) defi ciency.2 Globally it is estimated that the prevalence of hemophilia A in 2012 was 363,668 ...

Combined 17alpha-hydroxylase/17,20-lyase defi ciency is a rare, autosomal recessive form of congenital adrenal hyperplasia characterized by the coexistence of hypertension, caused by the hyperproduction of mineralocorticoid precursors and DSD in males and sexual infantilism in females, due to impaired production of sex hormones. Several CYP17 mutations resulting in 17alpha-hydroxylase/17,20-lya...

Copyright © 2012. Korean Society of Obstetrics and Gynecology Vitamin D (VtD) endocrine system is associated with obesity. The relationship between VtD and body fat was described originally by Lumb et al. [1]. Subsequently murine experiment and human study revealed that body fat is the major storage site of vitamin D3 and the source for other VtD metabolites during deprivation as well [2,3]. Th...

Aneurysms of the splanchnic arteries are common. However those of the veins are practically rare. Th ey can be congenital (due to persistent vitelline vein) or acquired (due to pancreatitis or cirrhosis) [1]. Complications can be thrombosis or rupture. Management would include watchful expectancy or aneurysmorrhaphy or aneurysmal resection. In case of thrombosis thrombectomy or thrombolysis or ...

Pompe disease results from a defi ciency or absence of the lysosomal enzyme acid alpha glucosidase (GAA), resulting in lysosomal glycogen accumulation that impacts cardiac, respiratory and neuromuscular function. Respiratory failure is the leading cause of morbidity and mortality in Pompe patients. AAV vectors expressing GAA are currently being evaluated in a phase I/II study in ventilator-depe...

Lesch-Nyhan disease is a rare, X-linked disorder, related to defi ciency of the purine salvage enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT). In addition to uric acid overproduction, HPRT defi ciency aff ects motor and cognitive function and is associated with behavioural disturbances caused by unknown pathophysiological changes. Since it was fi rst described, it has been known th...

Pompe disease is a rare autosomal recessive metabolic disorder caused by defi ciency of lysosomal hydrolase acid α-glucosidase (GAA). GAA degrades glycogen to glucose, and defi ciency results in generalized tissue glycogen accumulation leading to cardiorespiratory failure in the early-onset patients within the fi rst year of life. Enzyme replacement therapy (ERT) by administration of recombinan...