scholarly journals Sweat tests in the newborn period.

1973 ◽  
Vol 48 (4) ◽  
pp. 316-318 ◽  
Author(s):  
J D Hardy ◽  
S H Davison ◽  
M U Higgins ◽  
P N Polycarpou
Keyword(s):  
Newborn Period ◽  
Sweat Tests

Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy

2020 ◽  
Vol 33 (5) ◽  
pp. 671-674
Author(s):  
Tashunka Taylor-Miller ◽  
Jayne Houghton ◽  
Paul Munyard ◽  
Yadlapalli Kumar ◽  
Clinda Puvirajasinghe ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Compound Heterozygous ◽  
Congenital Hyperinsulinism ◽  
Β Cells ◽  
Pancreatic Β Cells ◽  
Newborn Period ◽  
Case Presentation ◽  
Male Baby ◽  
Common Causes ◽  
Compound Heterozygous Mutations

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.

Urea Cycle Disorders: Clinical Presentation Outside the Newborn Period

2005 ◽  
Vol 21 (4) ◽  
pp. S9-S17 ◽  
Author(s):  
Wendy Smith ◽  
Priya S. Kishnani ◽  
Brendan Lee ◽  
Rani H. Singh ◽  
William J. Rhead ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Newborn Period ◽  
Cycle Disorders

Micro-flowcell conductometric sweat analysis for cystic fibrosis diagnosis

2000 ◽  
Vol 37 (3) ◽  
pp. 399-407 ◽  
Author(s):  
H Lewis Webster ◽  
Carmelo G Quirante
Keyword(s):  
Power Supply ◽  
Time Interval ◽  
Sweating Rate ◽  
Sensor Cell ◽  
Sweat Testing ◽  
Small Holders ◽  
Flow Through ◽  
To Receive ◽  
Conductivity Cell ◽  
Sweat Tests

This paper describes a device specifically designed to facilitate neonatal sweat testing. The components are sized appropriately for attachment to the limbs of newborns. Iontophoretic electrodes, with pilocarpine gel inserts, are latched into small holders attached by straps to the limb. The holder at the anodic site remains in place to receive and align the sensor cell, which uses a conical collecting surface to channel the sweat directly and anaerobically from the sweat ducts to the continuous flow-through conductivity cell within its body. A crib-side analysis unit incorporates an iontophoretic power supply and displays a continuous readout of sweat electrical conductivity. The average conductivity during a specific time interval and the initial sweating rate are automatically displayed. The method, which simplifies sweat tests, is currently being assessed in three neonatal clinical trials to test its ability to reduce test failures in the newborn due to insufficient sweat.

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):  
Newborn Period

Twin Studies in Medical Genetics

1976 ◽  
Vol 25 (1) ◽  
pp. 249-258 ◽  
Author(s):  
P. Propping ◽  
F. Vogel
Keyword(s):  
Representative Sample ◽  
Interindividual Variability ◽  
Case Reports ◽  
Twin Studies ◽  
Medical Genetics ◽  
Genetic Component ◽  
Systematic Method ◽  
Newborn Period ◽  
Placental Blood ◽  
Placental Blood Flow

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.

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