VP25.01: The correlation between ultrasonographic diagnosis of fetal brain malformations and postmortem findings: a retrospective study

Abdominal ultrasound examinations (AUEs) are commonly used in the diagnostic evaluation of canine acute pancreatitis (AP). The purpose of this retrospective study was to evaluate and monitor the ultrasonographic changes observed in dogs with clinically suspected AP on consecutive AUEs. The study population was constituted by 38 client-owned dogs hospitalized for no less than 48 h from January 2016 to December 2019. Dogs included in this study were suspected of AP based on the clinical examination and abnormal rapid specific canine pancreatic lipase test performed at admission. Dogs were submitted to two AUEs, the first on the first day of hospitalization, and the second between 40–52 h after the first one. Twelve dogs had both AUEs suggestive of AP. Fourteen dogs received an ultrasonographic diagnosis of AP exclusively on the second AUE. Twelve dogs remained negative on both the first and the second AUE. In 26 out of 38 patients the second AUE was suggestive of AP. If a patient is suspected of AP, it is advisable to carry out ultrasonographic monitoring at least within the first 52 h after admission, since ultrasonographic signs of AP may only become observable later after hospitalization.

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OP03.11: Evaluation of fetal brain malformations by three-dimensional ultrasonography and magnetic resonance imaging

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.9291 ◽

2011 ◽

Vol 38 (S1) ◽

pp. 65-66

Author(s):

W. Hisaba ◽

P. Soares ◽

P. M. Nowak ◽

H. Figuinha ◽

T. Kawanami ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Three Dimensional ◽

Fetal Brain ◽

Resonance Imaging ◽

Brain Malformations

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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Brain Sciences ◽

10.3390/brainsci8080145 ◽

2018 ◽

Vol 8 (8) ◽

pp. 145 ◽

Cited By ~ 4

Author(s):

Jennifer Gardner ◽

Thomas Cushion ◽

Georgios Niotakis ◽

Heather Olson ◽

P. Grant ◽

...

Keyword(s):

De Novo ◽

Functional Characterization ◽

Clinical Manifestations ◽

Fetal Brain ◽

Detailed Comparison ◽

Hek 293 ◽

293 Cells ◽

Brain Malformations ◽

Computer Based

The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions during neurogenesis, neuronal migration, and cortical organisation. Mutations in TUBA1A have been reported to cause a range of brain malformations. We describe four unrelated patients with the same de novo missense mutation in TUBA1A, c.5G>A, p.(Arg2His), as found by next generation sequencing. Detailed comparison revealed similar brain phenotypes with mild variability. Shared features included developmental delay, microcephaly, hypoplasia of the cerebellar vermis, dysplasia or thinning of the corpus callosum, small pons, and dysmorphic basal ganglia. Two of the patients had bilateral perisylvian polymicrogyria. We examined the effects of the p.(Arg2His) mutation by computer-based protein structure modelling and heterologous expression in HEK-293 cells. The results suggest the mutation subtly impairs microtubule function, potentially by affecting inter-dimer interaction. Based on its sequence context, c.5G>A is likely to be a common recurrent mutation. We propose that the subtle functional effects of p.(Arg2His) may allow for other factors (such as genetic background or environmental conditions) to influence phenotypic outcome, thus explaining the mild variability in clinical manifestations.

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OC165: The clinical value of a cross-sectional view of the fetal brain in screening for major brain malformations at 11-14 weeks

Ultrasound in Obstetrics and Gynecology ◽

10.1002/uog.4271 ◽

2007 ◽

Vol 30 (4) ◽

pp. 417-418

Author(s):

H. F. Wang

Keyword(s):

Fetal Brain ◽

Clinical Value ◽

Cross Sectional ◽

Brain Malformations

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Cortical spectral matching and shape and volume analysis of the fetal brain pre- and post-fetal surgery for spina bifida: a retrospective study

Neuroradiology ◽

10.1007/s00234-021-02725-8 ◽

2021 ◽

Author(s):

Nada Mufti ◽

Michael Aertsen ◽

Michael Ebner ◽

Lucas Fidon ◽

Premal Patel ◽

...

Keyword(s):

Retrospective Study ◽

Parietal Lobe ◽

Fetal Brain ◽

Fetal Surgery ◽

Occipital Lobe ◽

Ventricular Volume ◽

Reconstruction Technique ◽

Cortical Folding ◽

Brain Volumes ◽

Before And After

Abstract Purpose A retrospective study was performed to study the effect of fetal surgery on brain development measured by MRI in fetuses with myelomeningocele (MMC). Methods MRI scans of 12 MMC fetuses before and after surgery were compared to 24 age-matched controls without central nervous system abnormalities. An automated super-resolution reconstruction technique generated isotropic brain volumes to mitigate 2D MRI fetal motion artefact. Unmyelinated white matter, cerebellum and ventricles were automatically segmented, and cerebral volume, shape and cortical folding were thereafter quantified. Biometric measures were calculated for cerebellar herniation level (CHL), clivus-supraocciput angle (CSO), transverse cerebellar diameter (TCD) and ventricular width (VW). Shape index (SI), a mathematical marker of gyrification, was derived. We compared cerebral volume, surface area and SI before and after MMC fetal surgery versus controls. We additionally identified any relationship between these outcomes and biometric measurements. Results MMC ventricular volume/week (mm3/week) increased after fetal surgery (median: 3699, interquartile range (IQR): 1651–5395) compared to controls (median: 648, IQR: 371–896); P = 0.015. The MMC SI is higher pre-operatively in all cerebral lobes in comparison to that in controls. Change in SI/week in MMC fetuses was higher in the left temporal lobe (median: 0.039, IQR: 0.021–0.054), left parietal lobe (median: 0.032, IQR: 0.023–0.039) and right occipital lobe (median: 0.027, IQR: 0.019–0.040) versus controls (P = 0.002 to 0.005). Ventricular volume (mm3) and VW (mm) (r = 0.64), cerebellar volume and TCD (r = 0.56) were moderately correlated. Conclusions Following fetal myelomeningocele repair, brain volume, shape and SI were significantly different from normal in most cerebral layers. Morphological brain changes after fetal surgery are not limited to hindbrain herniation reversal. These findings may have neurocognitive outcome implications and require further evaluation.

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Neonatal and Fetal Brain Malformations

Medical Radiology - Transfontanellar Doppler Imaging in Neonates ◽

10.1007/978-3-642-56724-7_9 ◽

2001 ◽

pp. 281-329

Author(s):

Alain P. Couture

Keyword(s):

Fetal Brain ◽

Brain Malformations

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Application of Image Process Technology in Diagnosing the Fetal Brain Malformations

Applied Mechanics and Materials ◽

10.4028/www.scientific.net/amm.433-435.342 ◽

2013 ◽

Vol 433-435 ◽

pp. 342-347

Author(s):

Ying Xiao Song ◽

Ri Tu Wu ◽

Li Xin He ◽

A Mei Chen

Keyword(s):

Standard Model ◽

Level Set ◽

Fetal Brain ◽

Image Process ◽

Gray Level ◽

Process Technology ◽

Mean Values ◽

Brain Malformations ◽

The Brain ◽

Segmentation Problem

A new method was proposed to solve match and segmentation problem of ultrasonography of the fetus brain for screen the fetal brain malformations. First, obtaining the gray value of the brain of skull, lateral ventricle (LV), and cerebella hemisphere (CH) based on the image process. Then, index of the each parts gray value scope of the health fetus brain important regions were calculated by using the edge detection based random ellipse detection (RED), using the level set method for the segmentations in tested tissues. Mean values of all datasets were calculated and a standard model were established. This standard model can be used to match the gray level of the undiagnosed groups in order to screen the fetal brain malformations. The propose method gets encouraging result of the application in 3 fetuses with hydrocephalus.

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MR imaging of fetal brain malformations

Child s Nervous System ◽

10.1007/s00381-003-0769-2 ◽

2003 ◽

Vol 19 (7-8) ◽

pp. 455-470 ◽

Cited By ~ 64

Author(s):

Charles Raybaud ◽

Olivier Levrier ◽

Herv� Brunel ◽

Nadine Girard ◽

Philippe Farnarier

Keyword(s):

Mr Imaging ◽

Fetal Brain ◽

Brain Malformations

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Ultrasonographic Diagnosis of Urachal Anomalies in Cats and Dogs: Retrospective Study of 98 Cases (2009–2019)

Veterinary Sciences ◽

10.3390/vetsci7030084 ◽

2020 ◽

Vol 7 (3) ◽

pp. 84

Author(s):

Francesca Perondi ◽

Caterina Puccinelli ◽

Ilaria Lippi ◽

Daniele Della Santa ◽

Michelangelo Benvenuti ◽

...

Keyword(s):

Retrospective Study ◽

Urinary Bladder ◽

Incidental Findings ◽

Clinical Symptoms ◽

Bladder Wall ◽

Clinical Signs ◽

Urethral Obstruction ◽

Ultrasonographic Diagnosis ◽

High Prevalence

This retrospective study investigated the prevalence of different urachal anomalies (UA) in cats (n = 60) and dogs (n = 38) and their association with clinical symptoms and urinalysis alterations. Among UA, the vesicourachal diverticulum was the most prevalent UA diagnosed in both cats (96.7%) and dogs (89.5%): the intramural vesicourachal diverticulum was diagnosed in 76.7% of cats and 71.1% of dogs, followed by extramural vesicourachal diverticulum (20.0% and 18.4% respectively). In both cats and dogs, bladder wall diffuse or regional thickening was the most prevalent alteration. The most common alterations of the urinary bladder content were urolithiasis sediment in cats (33.3%) and in dogs (31.6%). Dogs with UA were more often asymptomatic (p = 0.01). No difference was found in cats. Stranguria, hematuria, and urethral obstruction were the most frequently reported clinical signs, while hematuria and leukocyturia were the most prevalent abnormalities at urinalysis. In conclusion, our study confirmed UA as uncommon, and often incidental findings, with a high prevalence of animals without clinical signs.

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