scholarly journals Expanding the phenotype of the truncating eIF2 pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrom

2021 ◽  
Author(s):  
Sofia Ygberg ◽  
Anna Lindstrand
Keyword(s):  
Blood Flow ◽  
Multiorgan Failure ◽  
Pathogenic Variant ◽  
Dysmorphic Features ◽  
Umbilical Blood ◽  
Umbilical Blood Flow

We describe two brothers with a truncating variant in EIF2S3 and expand the phenotypic description of MEHMO. Our cases had the previously described facial dysmorphic features, severe microcephaly, hypoglycaemia, hypothyreosis, epilepsy, hypertonus, obesity, micropenis and death due to multiorgan failure. Additionally, we describe hypothermia and reduced umbilical blood flow.

Placental transfer as a function of uterine blood flow

1982 ◽  
Vol 242 (3) ◽  
pp. H429-H436 ◽  
Author(s):  
R. B. Wilkening ◽  
S. Anderson ◽  
L. Martensson ◽  
G. Meschia
Keyword(s):  
Blood Flow ◽  
Placental Transfer ◽  
Appreciable Effect ◽  
Uterine Blood Flow ◽  
Placental Perfusion ◽  
Umbilical Blood ◽  
Norepinephrine Infusion ◽  
Umbilical Blood Flow ◽  
Clearance Level ◽  
Different Levels

The effect of variations of uterine blood flow (F) on placental transfer was examined in six chronic sheep preparations by measuring the placental clearances of ethanol (CE) and antipyrine (CA) at different levels of F. Norepinephrine infusion, hemorrhage, and occlusion of the terminal aorta were used to reduce F below normal. The reduction of F had no appreciable effect on umbilical blood flow (f). In each ewe, CE significantly correlated with F. The CE vs. F relationship at constant f was curvilinear with convexity toward the clearance axis. Regression analysis showed that the equation 1/CE = 1/.911 F + 1/.831 f could account for most of the CE variance (r2 = 0.97). Implicit in this relation is the concept that, given a certain level of placental perfusion, an F/f ratio congruent to 1 is optimal for the exchange of highly diffusible inert molecules between mother and fetus [CE/(F + f) was maximum at F/f = 0.955]. CA was not significantly different from CE at low clearance level but became smaller than CE at clearance values greater than 300 ml/min. This suggests that a high rates of perfusion placental permeability was a factor in limiting CA.

scholarly journals CSH RNA Interference Reduces Global Nutrient Uptake and Umbilical Blood Flow Resulting in Intrauterine Growth Restriction

2021 ◽  
Vol 22 (15) ◽  
pp. 8150
Author(s):  
Amelia R. Tanner ◽  
Cameron S. Lynch ◽  
Victoria C. Kennedy ◽  
Asghar Ali ◽  
Quinton A. Winger ◽  
...  
Keyword(s):  
Blood Flow ◽  
Rna Interference ◽  
Nutrient Uptake ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Umbilical Blood ◽  
Uterine Growth ◽  
Umbilical Blood Flow ◽  
Placental Hormone

Deficiency of the placental hormone chorionic somatomammotropin (CSH) can lead to the development of intrauterine growth restriction (IUGR). To gain insight into the physiological consequences of CSH RNA interference (RNAi), the trophectoderm of hatched blastocysts (nine days of gestational age; dGA) was infected with a lentivirus expressing either a scrambled control or CSH-specific shRNA, prior to transfer into synchronized recipient sheep. At 90 dGA, umbilical hemodynamics and fetal measurements were assessed by Doppler ultrasonography. At 120 dGA, pregnancies were fitted with vascular catheters to undergo steady-state metabolic studies with the 3H2O transplacental diffusion technique at 130 dGA. Nutrient uptake rates were determined and tissues were subsequently harvested at necropsy. CSH RNAi reduced (p ≤ 0.05) both fetal and uterine weights as well as umbilical blood flow (mL/min). This ultimately resulted in reduced (p ≤ 0.01) umbilical IGF1 concentrations, as well as reduced umbilical nutrient uptakes (p ≤ 0.05) in CSH RNAi pregnancies. CSH RNAi also reduced (p ≤ 0.05) uterine nutrient uptakes as well as uteroplacental glucose utilization. These data suggest that CSH is necessary to facilitate adequate blood flow for the uptake of oxygen, oxidative substrates, and hormones essential to support fetal and uterine growth.

The effect of steroids on the fetal brain and umbilical blood flow and biophysical profile

2003 ◽  
Vol 189 (6) ◽  
pp. S218
Author(s):  
Zeev Weiner ◽  
Rula Hamisa ◽  
Allan Fisher ◽  
Allan Bombard ◽  
Eliezer Shalev
Keyword(s):  
Blood Flow ◽  
Fetal Brain ◽  
Umbilical Blood ◽  
Biophysical Profile ◽  
Umbilical Blood Flow

Effects of Pharmacologic Agents on Umbilical Blood Flow in Fetal Lambs in utero

Neonatology ◽  
1978 ◽  
Vol 33 (5-6) ◽  
pp. 225-235 ◽  
Author(s):  
William Berman jr. ◽  
Robert C. Goodlin ◽  
Michael A. Heymann ◽  
Abraham M. Rudolph
Keyword(s):  
Blood Flow ◽  
In Utero ◽  
Umbilical Blood ◽  
Umbilical Blood Flow ◽  
Pharmacologic Agents

scholarly journals A comparative study of three indices of umbilical blood flow in relation to prediction of growth retardation

1987 ◽  
Vol 15 (1) ◽  
pp. 3-12 ◽  
Author(s):  
Léon G. M. Mulders ◽  
Pieter F. F. Wijn ◽  
Henk W. Jongsma ◽  
Peter R. Hein
Keyword(s):  
Blood Flow ◽  
Comparative Study ◽  
Growth Retardation ◽  
Umbilical Blood ◽  
Umbilical Blood Flow

EFFECTS OF EPIDURAL BLOCK WITH L1DOCAINE AND LIDOCAINE-EPINEPHRINE ON UMBILICAL BLOOD FLOW VELOCITY WAVEFORMS

1986 ◽  
Vol 65 (Supplement 3A) ◽  
pp. A378
Author(s):  
G. F. Marx ◽  
M. Schuss ◽  
A. Anyaegbunam ◽  
A. Fleischer
Keyword(s):  
Blood Flow ◽  
Flow Velocity ◽  
Blood Flow Velocity ◽  
Epidural Block ◽  
Umbilical Blood ◽  
Umbilical Blood Flow

Role of ductus venosus in distribution of umbilical blood flow in human fetuses during second half of pregnancy

2000 ◽  
Vol 279 (3) ◽  
pp. H1256-H1263 ◽  
Author(s):  
Maria Bellotti ◽  
Giancarlo Pennati ◽  
Camilla De Gasperi ◽  
Frederick C. Battaglia ◽  
Enrico Ferrazzi
Keyword(s):  
Blood Flow ◽  
Fetal Liver ◽  
Color Doppler ◽  
Liver Perfusion ◽  
Normal Pregnancy ◽  
Left Lobe ◽  
Ductus Venosus ◽  
Venous Circulation ◽  
Umbilical Blood ◽  
Umbilical Blood Flow

Color Doppler sonography was used to study umbilical and ductus venosus (DV) flow in 137 normal fetuses between 20 and 38 wk of gestation. Hepatic flows were also evaluated. In all parts of the venous circulation examined, blood flow increased significantly with advancing gestational age. The weight-specific amniotic umbilical flow did not change significantly during gestation (120 ± 44 ml · min−1 · kg−1), whereas DV flow decreased significantly (from 60 to 17 ml · min−1 · kg−1). The percentage of umbilical blood flow shunted through the DV decreased significantly (from 40% to 15%); consequently, the percentage of flow to the liver increased. The right lobe flow changed from 20 to 45%, whereas the left lobe flow was approximately constant (40%). These changes are related to different patterns of growth of the umbilical veins and DV diameters. The present data support the hypothesis that the DV plays a less important role in shunting well-oxygenated blood to the brain and myocardium in late normal pregnancy than in early gestation, which leads to increased fetal liver perfusion.

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