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Neonatology. Transient hyperammonemia of the newborn (THAN) is an idiopathic disorder occasionally present in preterm newborns but not always symptomatic. [1] Continuous dialysis or hemofiltration have proven to be the most effective treatment. [1][2] Nutritional support and sodium benzoate have also been used to treat THAN.
Hyperammonemia, or high ammonia levels, is a metabolic disturbance characterised by an excess of ammonia in the blood. Severe hyperammonemia is a dangerous condition that may lead to brain injury and death. It may be primary or secondary. Ammonia is a substance that contains nitrogen. It is a product of the catabolism of protein.
Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle, responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females.
The Apgar score is a quick way for health professionals to evaluate the health of all newborns at 1 and 5 minutes after birth and in response to resuscitation. [1] It was originally developed in 1952 by an anesthesiologist at Columbia University, Virginia Apgar, to address the need for a standardized way to evaluate infants shortly after birth. [2]
Congenital hyperinsulinism (HI or CHI) is a rare condition causing severe hypoglycemia (low blood sugar) in newborns due to the overproduction of insulin. [ 5 ] There are various causes of HI, some of which are known to be the result of a genetic mutation. [ 6 ] Sometimes HI occurs on its own (isolated) and more rarely associated with other ...
Since April 1, 2000, NCHAM has served as the National Technical Assistance System for EHDI programs and with support from the Maternal and Child Health Bureau, NCHAM has worked with every State and Territorial EHDI program, as well as other professional, governmental, and advocacy groups to expand and improve EHDI programs worldwide.
Newborn screening programs initially used screening criteria based largely on criteria established by JMG Wilson and F. Jungner in 1968. [6] Although not specifically about newborn population screening programs, their publication, Principles and practice of screening for disease proposed ten criteria that screening programs should meet before being used as a public health measure.
A newborn infant undergoes a hearing screening. Universal neonatal hearing screening (UNHS), which is part of early hearing detection and intervention (EHDI) programmes, refer to those services aimed at screening hearing of all newborns, regardless of the presence of a risk factor for hearing loss. UNHS is the first step in the EHDI program ...