scholarly journals First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

2019 ◽  
Vol 21 ◽  
pp. 100526
Author(s):  
Hiromi Nyuzuki ◽  
Taro Yamazaki ◽  
Megumi Saito ◽  
Akira Ohtake
PEDIATRICS ◽  
1972 ◽  
Vol 49 (6) ◽  
pp. 847-853
Author(s):  
I. Antonowicz ◽  
J. D. Lloyd-Still ◽  
K. T. Khaw ◽  
H. Shwachman

Observations over a period of 6 years are reported on 10 children in whom the diagnosis of congenital sucrase isomaltase deficiency (SID) was confirmed by quantitative estimation of disaccharidase activity of the small intestinal mucosa. Repeat biopsies were performed on eight of the ten patients and showed no evidence that sucrase isomaltase activity is acquired. Sucrose tolerance tests (2 gm/kg) showed no significant rise in blood glucose in the seven patients in whom they were performed. This condition may appear in young infants with severe diarrhea resulting in a malabsorption syndrome and failure to thrive. It may also be manifest in a milder clinical presentation with bothersome diarrhea in spite of normal growth and development in the older infant or young child. The diagnosis in this latter group can be difficult, and is frequently missed.


1991 ◽  
Vol 54 (2) ◽  
pp. 346-350 ◽  
Author(s):  
J A Vanderhoof ◽  
D J Blackwood ◽  
H Mohammadpour ◽  
J H Park

2021 ◽  
Vol 8 (9) ◽  
pp. 1629
Author(s):  
Vishnu Vardhan Reddy M. ◽  
Suguna Reddy C. ◽  
Yoga Nagendhar ◽  
Vardhini Sree D.

Common causes of respiratory distress in a term infant include transient tachypnoea of newborn, sepsis/congenital pneumonia and congenital heart diseases. Surgical causes of distress in a newborn are rare and should be considered when other causes have been ruled out. We report a case of an early term female neonate who developed respiratory distress immediately after birth which was gradually progressive and required respiratory support. On evaluation with chest radiography and CT, a diagnosis of congenital lobar emphysema (CLE) was made. Immediate surgical resection was planned and done on day 8 of life. Post operatively she had no respiratory distress and discharged within a week. Baby is now healthy with normal growth and development. Half of the cases of CLE are diagnosed within the first 6 months of life but very few cases present with respiratory distress since birth. Timely diagnosis and early surgical excision in neonates <2 months improve the outcome, as seen in our case.


1999 ◽  
Vol 58 (2) ◽  
pp. 265-269 ◽  
Author(s):  
T. A. B. Sanders

The nutritional adequacy of plant-based diets is discussed. Energy and protein intakes are similar for plant-based diets compared with those containing meat. Fe and vitamin B12 are the nutrients most likely to be found lacking in such diets. Bioactive substances present in foods of plant origin significantly influence the bioavailability of minerals and requirements for vitamins. Well-balanced vegetarian diets are able to support normal growth and development. It is concluded that meat is an optional rather than an essential constituent of human diets.


PEDIATRICS ◽  
1978 ◽  
Vol 62 (5) ◽  
pp. 775-777
Author(s):  
Paula L. Stillman ◽  
Jane S. Ruggill ◽  
Darrell Sabers

All physicians who care for children require a knowledge of normal growth and development in order to detect and interpret abnormalities. Yet traditional instruction tends to focus on the ill child and rarely provides students the opportunity to follow up the cases of healthy children over a prolonged period of time. A new course was developed that enabled students to observe the longitudinal development of a normal infant from birth to age 16 months. At the completion of the course, a multiple-choice examination covering developmental concepts from birth to age 6 years was administered to the students who participated in this course (experimental group) and to two comparison Groups. The experimental group scored substantially higher than both comparison groups on items covering birth to age 18 months. The program offers an opportunity for medical students to observe the longitudinal development of a normal infant and appears complementary to other instructional methods.


Author(s):  
Minu Kesheri ◽  
Swarna Kanchan ◽  
Rajeshwar P. Sinha

In retrospect to the rise in the occurrence of ageing related disorders and the everlasting desire to overcome ageing, exploring the causes, mechanisms and therapies to curb ageing becomes relevant. Reactive Oxygen Species (ROS) are commonly generated during normal growth and development. However abiotic and biotic stresses enhance the level of ROS which in turn pose the threat of oxidative stress. Ability to perceive ROS and to speedily commence antioxidant defenses is crucial for the survival as well as longevity of living cells. Therefore living organisms are bestowed with antioxidants to combat the damages caused by oxidative stress. This chapter aims to elucidate an overview of the process of ageing, generation and enhancement of reactive oxygen species, damages incurred by oxidative stress, its amelioration strategies, therapeutic and biotechnological potentials of antioxidants and various sources of bioactive compounds significant in retardation of aging process.


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