The electrocardiogram in the newborn period. II. The infant with disease

1971 ◽  
Vol 78 (2) ◽  
pp. 346-354 ◽  
Author(s):  
Alois R. Hastreiter ◽  
Jose B. Abella
Keyword(s):  
2020 ◽  
Vol 33 (5) ◽  
pp. 671-674
Author(s):  
Tashunka Taylor-Miller ◽  
Jayne Houghton ◽  
Paul Munyard ◽  
Yadlapalli Kumar ◽  
Clinda Puvirajasinghe ◽  
...  

AbstractBackgroundCongenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI.Case presentationA term macrosomic male baby, birth weight 4.81 kg, born to non-consanguineous parents, presented on day 1 of life with severe and persistent hypoglycemia. The biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and progressively increased to 15 mg/kg/day to maintain normoglycemia. Sequence analysis identified compound heterozygous mutations in ABCC8 c.4076C>T and c.4119+1G>A inherited from the unaffected father and mother, respectively. The mutations are reported pathogenic. The patient is currently 7 months old with a sustained response to diazoxide.ConclusionsBiallelic ABCC8 mutations are known to result in severe, diffuse, diazoxide-unresponsive hypoglycemia. We report a rare patient with CHI due to compound heterozygous mutations in ABCC8 responsive to diazoxide.


2005 ◽  
Vol 21 (4) ◽  
pp. S9-S17 ◽  
Author(s):  
Wendy Smith ◽  
Priya S. Kishnani ◽  
Brendan Lee ◽  
Rani H. Singh ◽  
William J. Rhead ◽  
...  

1976 ◽  
Vol 25 (1) ◽  
pp. 249-258 ◽  
Author(s):  
P. Propping ◽  
F. Vogel

It is the aim of twin studies to obtain results which are not only valid for twins, but apply to the whole population. Therefore the following questions have to be answered first: do twins differ from non-twins in the trait under study? Do different nongenetic factors act upon MZ and DZ twins which alter the probability of manifestation of a trait, even before birth? There are important differences in embryogenesis and placental blood flow in mono- and dichorionic twins; this can influence the normal fetal development. Therefore the value of twin studies alone in analysing the genetic component in the etiology of congenital malformations is rather ambiguous. Twin studies beyond the newborn period can be classified into four approaches: (1) Case reports; (2) Accumulated case reports; (3) Limited representative sample; (4) Unlimited representative sample. The most frequent systematic method in medical genetics is the establishment of all twins in a defined population of probands (3). Another successful application in the last few years has been in pharmacogenetics. Although no simple mode of inheritance could be discovered, it was possible to estimate the genetic component within the interindividual variability of the metabolism of certain drugs (nortriptyline, antipyrine, phenylbutazone, ethanol). Now, additional non-twin research is needed to work out single factors within the observed polygenic systems.


PEDIATRICS ◽  
1972 ◽  
Vol 49 (3) ◽  
pp. 449-451
Author(s):  
Barry T. Smith

A case of isolated phrenic nerve palsy in a newborn infant following a difficult forceps delivery is described. Treatment was supportive and complete clinical and radiological recovery occurred between the tenth and eighteenth days of life. Phrenic nerve palsy should be considered in the differential diagnosis of respiratory distress in the newborn period, especially if there is a history of traumatic delivery or if a brachial palsy is present.


PEDIATRICS ◽  
1986 ◽  
Vol 77 (6) ◽  
pp. 918-919 ◽  
Author(s):  

Vision screening and eye examination are important for the detection of conditions that distort or suppress the normal visual image and, ultimately, may lead to blindness in children. Examination of the eyes can and should be performed at any age, beginning in the newborn period. Vision screening should be performed at as early an age as is practicable. Conditions that interfere with vision are of grave import because visual stimuli are critical to the development of normal vision. Decreased visual acuity often contributes to inadequate school performance. In addition, retinal abnormalities, cataract, glaucoma, retinoblastoma, eye muscle imbalance, and systemic disease with ocular manifestations may all be identified by careful examination. Vision screening should be carried out as part of a regular plan of continuing care, beginning in the preschool years. Screening examinations may be effectively performed by paramedical personnel under appropriate medical supervision. As with other specialty areas, it is important for the pediatrician to establish contact with an area ophthalmologist in the same geographical area who is familiar with children's eye problems. A close working relationship with such a specialist will clarify questions about procedures for eye screening as well as indications for referral. TIMING OF EXAMINATION AND SCREENING Children should have age-appropriate assessment for eye problems in the newborn period and at subsequent health supervision visits. Vision screening can begin as early as 3 years of age. Infants at risk for eye problems, such as retrolental fibroplasia, or those with a family history of congenital cataracts, retinoblastoma, and metabolic and genetic diseases should have an ophthalmologic examination in the nursery.


Sign in / Sign up

Export Citation Format

Share Document