scholarly journals Biliary Atresia: Clinical Phenotypes and Aetiological Heterogeneity

2021 ◽  
Vol 10 (23) ◽  
pp. 5675
Author(s):  
Mark Davenport ◽  
Ancuta Muntean ◽  
Nedim Hadzic
Keyword(s):  
Biliary Atresia ◽  
Disease Onset ◽  
Perinatal Period ◽  
Aetiological Agent ◽  
Common Pathway ◽  
Developmental Mechanism ◽  
Cat Eye Syndrome ◽  
Causative Factors ◽  
Time Of Presentation ◽  
Early Developmental

Biliary atresia (BA) is an obliterative condition of the biliary tract that presents with persistent jaundice and pale stools typically in the first few weeks of life. While this phenotypic signature may be broadly similar by the time of presentation, it is likely that this is only the final common pathway with a number of possible preceding causative factors and disparate pathogenic mechanisms—i.e., aetiological heterogeneity. Certainly, there are distinguishable variants which suggest a higher degree of aetiological homogeneity such as the syndromic variants of biliary atresia splenic malformation or cat-eye syndrome, which implicate an early developmental mechanism. In others, the presence of synchronous viral infection also make this plausible as an aetiological agent though it is likely that disease onset is from the perinatal period. In the majority of cases, currently termed isolated BA, there are still too few clues as to aetiology or indeed pathogenesis.

scholarly journals Current Devices and Complications Related to Transcatheter Mitral Valve Replacement: The Bumpy Road to the Top

2021 ◽  
Vol 8 ◽  
Author(s):  
Faraj Kargoli ◽  
Matteo Pagnesi ◽  
Kusha Rahgozar ◽  
Ythan Goldberg ◽  
Edwin Ho ◽  
...  
Keyword(s):  
Mitral Valve ◽  
Valve Replacement ◽  
Mitral Valve Replacement ◽  
Developmental Stages ◽  
Transcatheter Mitral Valve Replacement ◽  
Procedural Complications ◽  
Valvular Lesion ◽  
Time Of Presentation ◽  
Developed World ◽  
Early Developmental

Mitral regurgitation is the most common valvular lesion in the developed world, with increasing prevalence, morbidity, and mortality. The experience with surgical mitral valve repair or replacement is very well-validated. However, more than 45% of these patients get denied surgery due to an elevated risk profile and advanced disease of the left ventricle at the time of presentation, promoting the need for less invasive transcatheter options such as transcatheter repair and transcatheter mitral valve replacement (TMVR). Early available TMVR studies have shown promising results, and several dedicated devices are under clinical evaluation. However, TMVR is still in the early developmental stages and is associated with a non-negligible risk of periprocedural and post-procedural complications. In this review, we discuss the current challenges facing TMVR and the potential TMVR-related complications, offering an overview on the measures implemented to mitigate these complications, and future implications.

scholarly journals Acquisition of Early Developmental Milestones and Need for Special Education Services in Pediatric Multiple Sclerosis

2018 ◽  
Vol 34 (3) ◽  
pp. 148-152 ◽  
Author(s):  
Gregory Aaen ◽  
Michael Waltz ◽  
Wendy Vargas ◽  
Naila Makhani ◽  
Jayne Ness ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Onset ◽  
The United States ◽  
Fine Motor ◽  
Developmental Milestones ◽  
Pediatric Multiple Sclerosis ◽  
Special Services ◽  
Learning Assistance ◽  
Early Developmental ◽  
Multiple Sclerosis Onset

Children with pediatric-onset multiple sclerosis and pediatric controls were enrolled across 16 pediatric multiple sclerosis centers in the United States and completed questionnaires that addressed time of first unaided walking and acquisition of 2-word phrases. A total of 467 (308 female) cases and 428 (209 female) controls were enrolled. Pediatric multiple sclerosis (n = 467) were not delayed in walking or using 2-word phrases compared to healthy controls (n = 428) (2.2% vs 5.7%, respectively). Children with disease onset before age 11 versus onset at 11 years or after were more likely to need an individualized education plan ( P = .002), reading assistance ( P = .0003), and math assistance ( P = .001). Children with multiple sclerosis onset prior to age 18 are not delayed in meeting the 2 major early developmental milestones but do have a significantly increased use of special services or learning assistance at school. Further research will need to address whether other measures of development (eg, rate of language acquisition or fine motor skills) differ between pediatric multiple sclerosis and controls.

Segregation of sperm mitochondria in two- and four-cell embryos of the blue mussel Mytilus edulis: implications for the mechanism of doubly uniparental inheritance of mitochondrial DNA

Genome ◽  
2006 ◽  
Vol 49 (7) ◽  
pp. 799-807 ◽  
Author(s):  
Andrew T Cogswell ◽  
Ellen L.R Kenchington ◽  
Eleftherios Zouros
Keyword(s):  
Mytilus Edulis ◽  
Blue Mussel ◽  
Mitochondrial Genomes ◽  
Uniparental Inheritance ◽  
Cleavage Furrow ◽  
Doubly Uniparental Inheritance ◽  
Developmental Mechanism ◽  
Sex Ratio Bias ◽  
The Family ◽  
Early Developmental

Species of the family Mytilidae have 2 mitochondrial genomes, one that is transmitted through the egg and one that is transmitted through the sperm. In the Mytilus edulis species complex (M. edulis, M. galloprovincialis, and M. trossulus) there is also a strong mother-dependent sex-ratio bias in favor of one or the other sex among progeny from pair matings. In a previous study, we have shown that sperm mitochondria enter the egg and that their behavior during cell division is different depending on whether the egg originated from a female- or male-biased mother. Specifically, in eggs from females that produce mostly or exclusively daughters, sperm mitochondria disperse randomly among cells after egg division. In eggs from females that produce predominantly sons, sperm mitochondria tend to stay together in the same cell. Here, we extend these observations and show that in 2- and 4-cell embryos from male-biased mothers most sperm mitochondria are located near or at the cleavage furrow of the major cell, in contrast to embryos from female-biased mothers where there is no preferential association of sperm mitochondria with the cleavage furrow. This observation provides evidence for an early developmental mechanism through which sperm mitochondria are preferentially channeled into the primordial cells of male embryos, thus making the paternal mitochondrial genome the dominant mtDNA component of the male germ line.Key words: mussels, doubly uniparental inheritance of mtDNA, sperm mitochondria.

Biological and Ecological Influences on Development at 24 and 36 Months of Age

1972 ◽  
Vol 31 (1) ◽  
pp. 319-332 ◽  
Author(s):  
Thomas E. Jordan ◽  
Steven D. Spaner
Keyword(s):  
Linear Regression Analysis ◽  
Perinatal Period ◽  
Biological Data ◽  
Environmental Data ◽  
The Other ◽  
Physical Growth ◽  
Risk Status ◽  
Mother And Child ◽  
Early Developmental

A mutiple linear regression analysis of development at ages 2 and 3 is reported. Ss were drawn from a large birth cohort born in 1966. The study examined the role of maternal traits, environmental factors, race and social class, and biological data from the perinatal period, biological risk status and physical growth, as predictors of physical growth and mental development. The findings, when related to those of a study examining children from the same cohort at age 12 mo., showed that two aggregates of environmental data, one representing the micro-environment of mother and child, the other the macro-environment of society, failed to emerge as significant influences on development in the first 3 yr. of life. In contrast, a biological model based on early developmental data emerged as a comparatively significant influence on physical growth.

Biological and Ecological Influences on Development at 48 and 60 Months of Age

1974 ◽  
Vol 34 (1) ◽  
pp. 119-126 ◽  
Author(s):  
Thomas E. Jordan ◽  
Steven D. Spaner
Keyword(s):  
Linear Regression Analysis ◽  
Perinatal Period ◽  
Multiple Linear Regression Analysis ◽  
Biological Data ◽  
Environmental Data ◽  
The Other ◽  
Physical Growth ◽  
Mother And Child ◽  
Early Developmental

A multiple linear-regression analysis of development at ages 4 and 5 yr. is reported. Ss were drawn from a large birth cohort born in 1966. The study examined the role of maternal traits, environmental factors, and biological data from the perinatal period, as predictors of physical growth and mental development. The findings showed that two aggregates of environmental data, one representing the micro-environment of mother and child, the other the macro-environment of society, emerged as significant influences on development at ages 4 and 5. A biological model based on early developmental data emerged as a comparatively significant influence on physical growth.

Correlated Studies of Cellular Interactions Using TEM, Freeze Etching, and SEM

1974 ◽  
Vol 32 ◽  
pp. 320-321
Author(s):  
J. P. Revel
Keyword(s):  
Developmental Stages ◽  
Three Dimensional ◽  
Cell Movement ◽  
Cellular Interactions ◽  
Serial Sections ◽  
Cell Sheets ◽  
Freeze Etching ◽  
Early Developmental

Movement of individual cells or of cell sheets and complex patterns of folding play a prominent role in the early developmental stages of the embryo. Our understanding of these processes is based on three- dimensional reconstructions laboriously prepared from serial sections, and from autoradiographic and other studies. Many concepts have also evolved from extrapolation of investigations of cell movement carried out in vitro. The scanning electron microscope now allows us to examine some of these events in situ. It is possible to prepare dissections of embryos and even of tissues of adult animals which reveal existing relationships between various structures more readily than used to be possible vithout an SEM.

Ultrastructural alterations in the fetal mouse myocardium in response to genetic and environmental factors

1987 ◽  
Vol 45 ◽  
pp. 724-725
Author(s):  
K.C. Feng-Chen ◽  
F.B. Essien ◽  
K.J. Prestwidge ◽  
J.T. Cheng ◽  
C.L. Shen
Keyword(s):  
Fetal Heart ◽  
Perinatal Period ◽  
Primary Energy ◽  
Cardiac Contraction ◽  
Ultrastructural Changes ◽  
Fetal Mouse ◽  
The Subject ◽  
Physiological Adjustments ◽  
Genetic And Environmental Factors ◽  
Genetically Determined

The physiology of the fetal heart differs significantly from that of the mature post-natal organ: e.g., the metabolic supply for adult cardiac contraction relies mainly on fatty acids; whereas, the fetal heart uses carbohydrates as its primary energy source. Limited morphological descriptions of the developing myocardium have appeared. However, additional studies are required to elucidate the ultrastructural changes occuring in the perinatal period when enormous physiological adjustments are made. Although adult animals are most often used in toxocological and pathological analyses, it is also important to investigate fetal cardiac responsiveness to various agents. The vulnerability of the ultrastructure of the fetal mouse myocardium to genetic and environmental assault is the subject of this report. The genetically determined effect on the heart was observed in mouse embryos homozygous for the cab (cardiac abnormality) mutation discovered by Essien.

An Early Developmental Marker for Radial Glia in Rat Spinal Cord

1996 ◽  
Vol 54 ◽  
pp. 36-37
Author(s):  
V. Kriho ◽  
H.-Y. Yang ◽  
C.-M. Lue ◽  
N. Lieska ◽  
G. D. Pappas
Keyword(s):  
Spinal Cord ◽  
Intermediate Filament ◽  
Radial Glia ◽  
Rat Spinal Cord ◽  
Future Studies ◽  
Spinal Cord Development ◽  
Median Septum ◽  
Differentiation Marker ◽  
Early Developmental ◽  
Developing Rat

Radial glia have been classically defined as those early glial cells that radially span their thin processes from the ventricular to the pial surfaces in the developing central nervous system. These radial glia constitute a transient cell population, disappearing, for the most part, by the end of the period of neuronal migration. Traditionally, it has been difficult to definitively identify these cells because the principal criteria available were morphologic only.Using immunofluorescence microscopy, we have previously defined a phenotype for radial glia in rat spinal cord based upon the sequential expression of vimentin, glial fibrillary acidic protein and an intermediate filament-associated protein, IFAP-70/280kD. We report here the application of another intermediate filament-associated protein, IFAP-300kD, originally identified in BHK-21 cells, to the immunofluorescence study of radial glia in the developing rat spinal cord.Results showed that IFAP-300kD appeared very early in rat spinal cord development. In fact by embryonic day 13, IFAP-300kD immunoreactivity was already at its peak and was observed in most of the radial glia which span the spinal cord from the ventricular to the subpial surfaces (Fig. 1). Interestingly, from this time, IFAP-300kD immunoreactivity diminished rapidly in a dorsal to ventral manner, so that by embryonic day 16 it was detectable only in the maturing macroglial cells in the marginal zone of the spinal cord and the dorsal median septum (Fig. 2). By birth, the spinal cord was essentially immuno-negative for this IFAP. Thus, IFAP-300kD appears to be another differentiation marker available for future studies of gliogenesis, especially for the early stages of radial glia differentiation.

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