Diagnosis of Surfactant Defects in Newborn, Children and Adults in the Era of Surfactant Therapy

1988 ◽  
pp. 58-65
Author(s):  
M. Hallman ◽  
J. L. Abraham ◽  
O. Pitkänen ◽  
P. Arjomaa
Keyword(s):  
Surfactant Therapy ◽  
Newborn Children

Retrospective Diagnosis of Pontocerebellar Hypoplasia Type 1B in a Family with Two Deceased Newborn Children

2020 ◽  
Author(s):  
Irena Bradinova ◽  
Silvia Andonova ◽  
Alexey Savov
Keyword(s):  
Clinical Signs ◽  
Final Diagnosis ◽  
Population Based ◽  
Neuromuscular Disorder ◽  
Population Characteristics ◽  
High Risk Population ◽  
Pontocerebellar Hypoplasia ◽  
Clinical Genetic ◽  
Retrospective Diagnosis ◽  
Newborn Children

AbstractPontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. Pontocerebellar hypoplasia type 1B is caused by mutations in EXOSC3 gene. High prevalence of the p.Gly31Ala mutation was found recently, especially in the Roma ethnic minority. We present a young Bulgarian Roma family with two deceased newborn children manifesting severe neuromuscular disorder including severe muscle weakness, respiratory distress, and multiple joint contractures. Based on the clinical signs and family's population characteristics, DNA testing for the previously described EXOSC3 in Bulgarian Roma mutation c.92G > C; p.Gly31Ala was performed on blood samples of both parents and they were found to be heterozygous carriers. This finding indirectly confirmed the diagnosis of pontocerebellar hypoplasia type B in the deceased offspring. Knowledge of population-specific molecular bases of genetic conditions was the key to final diagnosis in the presented family. Designing of population-based clinical-genetic panels may be a powerful diagnostic tool for patients with such origin. Preconception carrier screening in high-risk population groups is a feasible option to discuss.

Impact of exogenenic surfactant therapy as an adjunct for modern lung preservation

2008 ◽  
Vol 56 (S 1) ◽  
Author(s):  
T Wittwer ◽  
M Ochs ◽  
C Mühlfeld ◽  
N Madershahian ◽  
T Wahlers
Keyword(s):  
Surfactant Therapy ◽  
Lung Preservation

Surfactant Therapy

2000 ◽  
Vol 15 (6) ◽  
pp. 334-334
Author(s):  
Mary Ellen Avery
Keyword(s):  
Surfactant Therapy

Nucleated Red Blood Cells as Markers of Perinatal Adaptation in Preterm Neonates Receiving Minimally Invasive Surfactant Therapy

2021 ◽  
Author(s):  
Itamar Nitzan ◽  
Calum T. Roberts ◽  
Risha Bhatia ◽  
Francis B. Mimouni ◽  
Arvind Sehgal
Keyword(s):  
Minimally Invasive ◽  
Right Ventricular ◽  
Red Blood Cells ◽  
Blood Cells ◽  
Surfactant Therapy ◽  
Preterm Neonates ◽  
Oxygen Requirement ◽  
Nucleated Red Blood Cells ◽  
Intrauterine Hypoxia ◽  
Ventricular Ejection Time

Objective The study aimed to assess the association of nucleated red blood cells (NRBC), a surrogate of intrauterine hypoxia, and elevated pulmonic vascular resistance (E-PVR) and oxygen requirement after minimally invasive surfactant therapy (MIST). Study Design Retrospective study of a cohort of preterm neonates that received MIST in a single unit. Results NRBC were measured in 65 of 75 (87%) neonates administered MIST during the period. In total, 22 of 65 (34%) infants had pre-MIST echocardiography (ECHO).Neonates with elevated NRBC (predefined as >5 × 109/L, n = 16) required higher post-MIST fraction of inspired oxygen (FiO2) than neonates with normal NRBC (<1 × 109/L, n = 17; FiO2 = 0.31 ± 0.10 and 0.24 ± 0.04, respectively, p = 0.02).NRBC correlated positively with % of time in right to left ductal shunt (r = 0.51, p = 0.052) and inversely with right ventricular stroke volume (r = −0.55, p = 0.031) and time to peak velocity to right ventricular ejection time ratio (r = −0.62, p < 0.001). Conclusion Elevated NRBC are associated with elevated FiO2 after MIST and elevated E-PVR. Intrauterine hypoxia may impact postnatal circulatory adaptations and oxygen requirement. Key Points

Predictors of mortality in premature babies with respiratory distress syndrome treated by early rescue surfactant therapy

2021 ◽  
pp. 1-6
Author(s):  
V. Gahlawat ◽  
H. Chellani ◽  
I. Saini ◽  
S. Gupta
Keyword(s):  
Mechanical Ventilation ◽  
Birth Weight ◽  
Respiratory Distress Syndrome ◽  
Respiratory Distress ◽  
Distress Syndrome ◽  
Surfactant Therapy ◽  
Mask Ventilation ◽  
Predictors Of Mortality ◽  
Antenatal Steroid ◽  
Bag And Mask Ventilation

OBJECTIVE: To determine the predictors of mortality following early rescue surfactant therapy in preterm babies with respiratory distress syndrome. STUDY DESIGN: Prospective cohort study enrolling babies between 28 weeks to 34 weeks with respiratory distress syndrome requiring early rescue surfactant therapy. For statistical analysis babies were further divided into two subgroups: survivors and non-survivors. Maternal and neonatal variables were compared between the two groups to find out the predictors of mortality. RESULTS: Out of total 110 babies, 72 (65.45%) survived. The mean birth weight and mean gestational age of the study population was 1614.36 (±487.86) g and 31.40 (±2.0)1 weeks, respectively. Birth weight <  1500 g, gestational age <  32 weeks, primiparity, vaginal delivery, prolonged rupture of membranes, lack of antenatal steroid cover, bag and mask ventilation at birth, sepsis, apneic episodes and mechanical ventilation were significantly associated with death on univariate analysis. On multivariate analysis, very low birth weight, vaginal delivery, lack of antenatal steroid cover, bag and mask ventilation at birth and mechanical ventilation were found to be independent predictors of mortality. CONCLUSIONS: Some of the identified predictors of mortality are modifiable and can be used to draw up a screening tool to predict the clinical severity and mortality among these babies.

scholarly journals Gestationalism and the Rights of Adolescent Mothers

2020 ◽  
Vol 7 (2) ◽  
pp. 239-254
Author(s):  
Teresa Baron
Keyword(s):  
Children And Adolescents ◽  
Adolescent Mothers ◽  
Adolescent Parents ◽  
Moral Rights ◽  
Parental Rights ◽  
Full Complement ◽  
The Right ◽  
Newborn Children

AbstractIn this paper, I explore the ways in which consideration of adolescent parents forces us to confront and question common presuppositions about parental rights. In particular, I argue that recognising the right of adolescent mothers not to be forcibly separated from their newborn children justifies rejecting the notion that parental rights are (a) all acquired in the same manner and (b) acquired as a ‘bundle’ of concomitant moral rights. I conclude that children and adolescents who conceive and give birth have some parental rights concerning their newborn children – in particular, the right not to be forcibly separated from those children – even if they do not have the ‘full complement’ of parental rights as we generally characterise these.

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