A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death

2021 ◽  
Author(s):  
Montaha Al‐Iede ◽  
Mariam Khanfar ◽  
Luma Srour ◽  
Raja Rabah ◽  
Mousa Al‐Abbadi ◽  
...  
Keyword(s):  
Respiratory Distress ◽  
Neonatal Death ◽  
Early Neonatal Death ◽  
Severe Respiratory Distress ◽  
Homozygous Variant

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

2019 ◽  
Vol 62 (11) ◽  
pp. 103574 ◽  
Author(s):  
Brent A. Penque ◽  
Leila Su ◽  
Jianghai Wang ◽  
Weizhen Ji ◽  
Allen Bale ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Neonatal Death ◽  
Early Neonatal Death ◽  
Severe Metabolic Acidosis ◽  
Homozygous Variant

scholarly journals ABCA3 Gene Defect - Cause of Severe Respiratory Distress and Failure in Newborn

2021 ◽  
Vol 8 (11) ◽  
pp. 23-25
Author(s):  
Neetu Yadav ◽  
Nivedita Seehra ◽  
Satish Mishra
Keyword(s):  
Family History ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Neonatal Death ◽  
Distress Syndrome ◽  
Gene Defect ◽  
Severe Respiratory Distress ◽  
Missense Variation ◽  
Near Term ◽  
Male Neonate

Surfactant metabolism disorders are rare cause of RDS in term neonates. A near term male neonate presented with respiratory distress syndrome (required Surfactant multiple times) with family history of one still birth and one neonatal death due to RDS in previous siblings. A homozygous missense variation in exon 7 of the ABCA3 gene that results in the amino acid substitution of leucine for proline at codon 186 was detected. He died of severe respiratory failure even after multiple doses of surfactant and ventilation. Surfactant deficiency with ABCA3 gene mutation needs to be suspected in term neonate who present with respiratory distress syndrome with family history or neonatal death with respiratory distress. Keywords: ABCA3 gene defect, Respiratory distress syndrome (RDS), neonates, neonatal death.

scholarly journals Intraoral teratoma in a newborn presenting as severe respiratory distress

2013 ◽  
Vol 2013 (mar25 1) ◽  
pp. bcr2013008735-bcr2013008735 ◽  
Author(s):  
V. K. Kundal ◽  
M. Gajdhar ◽  
C. Sharma ◽  
R. Kundal
Keyword(s):  
Respiratory Distress ◽  
Severe Respiratory Distress

Radiologic Observations in Severe Neonatal Respiratory Distress Syndrome Treated with the Isolated Phospholipid Fraction of Natural Surfactant

1987 ◽  
Vol 28 (4) ◽  
pp. 389-394 ◽  
Author(s):  
W. Mortensson ◽  
G. Noack ◽  
T. Curstedt ◽  
P. Herin ◽  
B. Robertson
Keyword(s):  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Randomized Clinical Trials ◽  
Distress Syndrome ◽  
Phospholipid Fraction ◽  
Neonatal Respiratory Distress Syndrome ◽  
Dramatic Improvement ◽  
Long Term Effects ◽  
Severe Respiratory Distress ◽  
Neonatal Respiratory Distress

Ten newborn babies with severe respiratory distress syndrome, all dependent on artificial ventilation, were treated via the airways with the isolated phospholipid fraction of bovine or porcine surfactant. After treatment with surfactant at a median age of 10.5h, there was in all patients a striking improvement of lung aeration in chest films, with a decrease in parenchymal fluid retention and in distension of bronchioli. These radiologic findings were associated with a dramatic improvement of oxygenation and a significant reduction of the right-to-left shunt. In spite of the rapid therapeutic response, four patients died from cerebral hemorrhage. One of the surviving patients developed bronchopulmonary dysplasia. Our findings document efficacy of this new surfactant preparation in the neonatal respiratory distress syndrome, but the long-term effects need to be further tested in randomized clinical trials.

Inhaled nitric oxide in very preterm infants with severe respiratory distress syndrome

2006 ◽  
Vol 95 (9) ◽  
pp. 1116-1123 ◽  
Author(s):  
Carlo Dani ◽  
Giovanna Bertini ◽  
Marco Pezzati ◽  
Luca Filippi ◽  
Alessandra Cecchi ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Preterm Infants ◽  
Distress Syndrome ◽  
Inhaled Nitric Oxide ◽  
Severe Respiratory Distress ◽  
Very Preterm Infants ◽  
Very Preterm ◽  
Severe Respiratory Distress Syndrome

Newborns With Acute Respiratory Distress: Diagnosis and Management

1988 ◽  
Vol 9 (9) ◽  
pp. 279-285
Author(s):  
Richard L. Schreiner ◽  
Niceta C. Bradburn
Keyword(s):  
Pulmonary Hypertension ◽  
Respiratory Distress ◽  
Newborn Infant ◽  
Blood Gases ◽  
Indirect Measurement ◽  
Chest Roentgenogram ◽  
Inborn Errors ◽  
Severe Respiratory Distress ◽  
Glucose Determination ◽  
Arterial Blood

If respiratory distress develops in the newborn after he or she has been normal for more than a few hours, bacterial sepsis, inborn errors of metabolism, cardiac disorders, and intracranial hemorrhage should be suspected. It is virtually impossible to determine whether an infant with mild respiratory distress in the first few hours of life will have rapid resolution of disease or progress to severe respiratory distress. That is, it is difficult to differentiate among transient tachypnea of the newborn, sepsis, and pulmonary hypertension in the infant with mild respiratory distress in the first few hours of life. Transient tachypnea is a diagnosis that can only be made with certainty after the infant's respiratory distress has resolved. The newborn infant with mild respiratory distress of more than a few hours' duration requires a minimum number of laboratory tests including chest roentgenogram, hematocrit or hemoglobin, blood glucose determination, direct or indirect measurement of arterial blood gases, and blood cultures. The liberal use of oxygen in the near-term, term, or post-term vigorous but cyanotic infant in the delivery room may decrease the incidence and/or severity of respiratory distress due to pulmonary hypertension. A newborn infant with respiratory distress for more than a few hours should be considered a candidate for infection.

Passage of the First Stool in Very Low Birth Weight Infants

PEDIATRICS ◽  
1987 ◽  
Vol 79 (6) ◽  
pp. 1005-1007
Author(s):  
Meenakshi K. Jhaveri ◽  
Savitri P. Kumar
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Very Low Birth Weight ◽  
Gut Hormones ◽  
Low Birth Weight Infants ◽  
Severe Respiratory Distress ◽  
Severe Respiratory Distress Syndrome

Times of first stool passage were studied in 171 infants who weighed less than 1,500 g at birth. Delayed passage (greater than 48 hours) was noted in 20.4% of this group. Significant differences were noted between the delayed and nondelayed groups for gestational age, presence of severe respiratory distress syndrome, and the time of the first enteral feeding. In very low birth weight infants, delay in the passage of the first stool is a common occurrence. This delay is probably due to physiologic immaturity of the motor mechanisms of the gut, lack of triggering effect of enteral feeds on gut hormones, and the presence of severe respiratory distress syndrome, which may singly or in concert adversely affect gastrointestinal motility.

Effectiveness of Curosurf for Severe Respiratory Distress Syndrome: A Case-Control Study

Neonatology ◽  
1992 ◽  
Vol 61 (1) ◽  
pp. 21-25 ◽  
Author(s):  
Adolf Valls-i-Soler ◽  
Mikel Lizarraga ◽  
Jon López de Heredia ◽  
Lourdes Roman ◽  
Edita Hernáez ◽  
...  
Keyword(s):  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Case Control Study ◽  
Case Control ◽  
Severe Respiratory Distress ◽  
Severe Respiratory Distress Syndrome ◽  
Control Study
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