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Iranian Red Crescent Medical Journal Jul 2012
PubMed: 22997566
DOI: No ID Found -
Journal of Ultrasound in Medicine :... Nov 2007The purpose of this study was to determine the contribution of magnetic resonance imaging (MRI) in evaluating fetuses with the sonographic diagnosis of ventriculomegaly... (Comparative Study)
Comparative Study
OBJECTIVE
The purpose of this study was to determine the contribution of magnetic resonance imaging (MRI) in evaluating fetuses with the sonographic diagnosis of ventriculomegaly (VM).
METHODS
Over 4 years, consecutive fetuses with the sonographic diagnosis of VM at 1 facility who underwent prenatal MRI at a second facility were included. The roles of MRI and follow-up sonography were tabulated. The patients were analyzed in 2 groups based on the presence or absence of other central nervous system (CNS) abnormalities.
RESULTS
Twenty-six fetuses with a gestational age range of 17 to 37 weeks had sonographically detected VM (atria > or =10-29 mm), including 19 with mild VM (atria 10-12 mm). In group 1, 14 had isolated VM, 6 of which reverted to normal by the third trimester. Magnetic resonance imaging showed cerebellar hypoplasia not shown by sonography in 1 fetus and an additional finding of a mega cisterna magna in a second fetus. In group 2, 12 fetuses had VM and other CNS anomalies on sonography. Additional findings were seen with MRI in 10 of these fetuses, including migrational abnormalities (n = 4), porencephaly (n = 4), and 1 diagnosis each of abnormal myelination, hypoplasia of the corpus callosum, microcephaly, a kinked brain stem, cerebellar hypoplasia, and congenital infarction. There were significantly more fetuses with additional CNS anomalies found by MRI among those in group 2 compared with those in group 1 (Fisher exact test, P = .001).
CONCLUSIONS
Although sonography is an accurate diagnostic modality for the evaluation of fetuses with VM, MRI adds important additional information, particularly in fetuses in whom additional findings other than an enlarged ventricle are seen sonographically.
Topics: Cerebral Ventricles; Humans; Image Enhancement; Magnetic Resonance Imaging; Reproducibility of Results; Sensitivity and Specificity; Ultrasonography, Prenatal
PubMed: 17957045
DOI: 10.7863/jum.2007.26.11.1513 -
Frontiers in Veterinary Science 2021This case report describes the clinical signs, magnetic resonance imaging (MRI) findings and associated (histo)pathological findings in a crossbred Belgian Blue calf...
This case report describes the clinical signs, magnetic resonance imaging (MRI) findings and associated (histo)pathological findings in a crossbred Belgian Blue calf with congenital complex brain anomaly. The calf was presented with non-progressive signs (including cerebellar ataxia) since it was born, suggestive of a multifocal intracranial lesion. A congenital anomaly was suspected and after hematology, biochemistry, serology, and cerebrospinal fluid analysis, a magnetic resonance imaging study was performed. The following suspected abnormalities were the principal changes identified: severe hydrocephalus, porencephaly, suspected partial corpus callosum agenesis (CCA), and increased fluid signal between the folia of the cerebellum. Post-mortem examination predominately reflected the MRI findings. The origin for these malformations could not be identified and there was no evidence of a causative infectious agent. Corpus callosum abnormalities have been reported in bovids before and have been linked to bovine viral diarrhea virus (BVDV) infections, as have several other central nervous system anomalies in this species. In this case, BVDV was deemed an unlikely causative agent based on serology test results and lack of typical histopathological signs. The etiology of the congenital anomaly present in this bovine calf remains unknown.
PubMed: 34631846
DOI: 10.3389/fvets.2021.700527 -
Seizure Jul 2005To describe repetitive movements of the right arm possibly originating from the ipsilateral SMA area in two drug-resistant epileptic patients.
PURPOSE
To describe repetitive movements of the right arm possibly originating from the ipsilateral SMA area in two drug-resistant epileptic patients.
METHODS
Two epileptic patients (one female, one male, 35 and 36 years old, respectively) were submitted to pre-surgical evaluation including history, neurological examination, long-term video-EEG monitoring, interictal and ictal SPET, MRI and fMRI, neuropsychological assessment. Invasive recordings (stereoelectroencephalography) were also performed.
RESULTS
In both patients ictal semiology was characterized by very stereotyped repetitive right arm movements, i.e. tapping towards the thorax (movement rate of 6-7 Hz and 3-4 Hz for the two subjects, respectively). Seizures in the first patient, whose epilepsy was cryptogenetic, originated from the right pre-SMA area, which was surgically removed. She is seizure free 2 years after the operation. In the second patient, in whom a right pre-frontal post-abscess porencephaly was disclosed, the epileptogenic zone included the lesion and surrounding areas, while the SMA area was involved less consistently.
CONCLUSIONS
Even if, according to literature, SMA epilepsy is predominantly characterized by postural manifestations, ipsilateral repetitive movements could be a relevant sign in this kind of epilepsy, as showed in our first patient. The presence of similar semiology in the second patient, might suggest that the symptomatogenic zone involved SMA area.
Topics: Adult; Automatism; Cerebral Cortex; Electroencephalography; Female; Functional Laterality; Humans; Hyperkinesis; Magnetic Resonance Imaging; Male; Neuropsychological Tests; Seizures; Tomography, Emission-Computed, Single-Photon
PubMed: 15967684
DOI: 10.1016/j.seizure.2005.04.011 -
Infection and Immunity Jan 1977Akabane virus (a Bunyavirus) has been associated with epizootics of congenital deformities in cattle, sheep, and goats. Experimental studies using mouse-adapted virus...
Akabane virus (a Bunyavirus) has been associated with epizootics of congenital deformities in cattle, sheep, and goats. Experimental studies using mouse-adapted virus inoculated intravenously into pregnant sheep gave an inapparent infection. Neutralizing antibodies were detected on day 5, and peaks in the titer were seen at days 10 and 48. Ewes infected at day 30 to 36 of pregnancy produced five (31% incidence) deformed lambs. Sera from four of these possessed neutralizing antibodies to Akabane virus before ingesting colostrum. Two lambs had arthrogryposis, hydranencephaly, kyphosis, scoliosis, and brachygnathia; one had micrencephaly; and the other two had porencephaly. The two lambs with arthrogryposis and hydranencephaly also had extensive lesions in other tissues. In the spinal cord there was a marked decrease in the number of ventral horn neurones and a depletion of myelin. Skeletal muscles showed marked atrophy. The medulla of the thymus possessed large Hassall's corpuscles and a reduced number of thymocytes in the cortex. It would appear that the pathogenic effects of Akabane virus are related to the gestational age (30 to 36 days) at which the fetus is infected. Akabane virus can now be included in the growing list of teratogenic viruses and provides an interesting system for studying such congenital diseases.
Topics: Animals; Animals, Newborn; Antibodies, Viral; Arbovirus Infections; Arboviruses; Arthrogryposis; Brain; Bunyamwera virus; Female; Jaw Abnormalities; Kyphosis; Maternal-Fetal Exchange; Meninges; Microcephaly; Muscles; Neutralization Tests; Pregnancy; Scoliosis; Sheep
PubMed: 832900
DOI: 10.1128/iai.15.1.254-262.1977 -
Cureus Nov 2019Phentermine is a sympathomimetic amine used for the short-term weight loss that has been associated with ischemic and hemorrhagic strokes in adults. The effects of this...
Phentermine is a sympathomimetic amine used for the short-term weight loss that has been associated with ischemic and hemorrhagic strokes in adults. The effects of this medication on a developing fetus are not well studied. We present the case of a woman who was taking phentermine during the first two trimesters of pregnancy and subsequently delivered a child with bilateral porencephalic cysts likely due to a prenatal stroke.
PubMed: 31890378
DOI: 10.7759/cureus.6170 -
BMJ Case Reports Feb 2015
Topics: Adult; Brain; Cysts; Female; Humans; Infant, Newborn; Intracranial Hemorrhages; Magnetic Resonance Imaging; Porencephaly; Pregnancy; Prenatal Diagnosis
PubMed: 25716048
DOI: 10.1136/bcr-2014-209130 -
Archives Internationales de Physiologie... May 1978Migration anomalies are congenital malformations caused by insults to migrating neuroblasts during the third to fifth gestational months. Included in this group are...
Migration anomalies are congenital malformations caused by insults to migrating neuroblasts during the third to fifth gestational months. Included in this group are agyria, pachygyria, polymicrogyria, unilateral megalencephaly, schizencephaly, and gray matter heterotopias. Patients who have these conditions present clinically with developmental delay and seizures, and abnormal motor skills are noted in the more severely affected infants. To determine the utility of MR as a method for imaging in these patients, we used MR to evaluate 13 patients who had the full spectrum of migration anomalies. MR was more sensitive than CT in detecting these anomalies because of its better contrast between gray and white matter. We found that MR was particularly more sensitive in detecting schizencephaly, where recognizing the presence of gray matter lining the cleft is critical to distinguishing that disease from porencephaly, and in detecting polymicrogyria, where critical details of cortical architecture are obscured on CT by the overlying bone. Multiplanar capabilities were also found to be essential, since narrow clefts may not be detected when the imaging plane is parallel to the cleft. MR should be the primary imaging method for infants who have seizures or developmental delay.
Topics: Animals; Dihydroxyphenylalanine; Mice; Neoplasms, Experimental; Neuroblastoma; Norepinephrine; Phenylalanine; Tyrosine
PubMed: 81009
DOI: No ID Found -
Human Molecular Genetics Jan 2014Haemorrhagic stroke accounts for ∼20% of stroke cases and porencephaly is a clinical consequence of perinatal cerebral haemorrhaging. Here, we report the...
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.
Haemorrhagic stroke accounts for ∼20% of stroke cases and porencephaly is a clinical consequence of perinatal cerebral haemorrhaging. Here, we report the identification of a novel dominant G702D mutation in the collagen domain of COL4A2 (collagen IV alpha chain 2) in a family displaying porencephaly with reduced penetrance. COL4A2 is the obligatory protein partner of COL4A1 but in contrast to most COL4A1 mutations, the COL4A2 mutation does not lead to eye or kidney disease. Analysis of dermal biopsies from a patient and his unaffected father, who also carries the mutation, revealed that both display basement membrane (BM) defects. Intriguingly, defective collagen IV incorporation into the dermal BM was observed in the patient only and was associated with endoplasmic reticulum (ER) retention of COL4A2 in primary dermal fibroblasts. This intracellular accumulation led to ER stress, unfolded protein response activation, reduced cell proliferation and increased apoptosis. Interestingly, the absence of ER retention of COL4A2 and ER stress in cells from the unaffected father indicate that accumulation and/or clearance of mutant COL4A2 from the ER may be a critical modifier for disease development. Our analysis also revealed that mutant collagen IV is degraded via the proteasome. Importantly, treatment of patient cells with a chemical chaperone decreased intracellular COL4A2 levels, ER stress and apoptosis, demonstrating that reducing intracellular collagen accumulation can ameliorate the cellular phenotype of COL4A2 mutations. Importantly, these data highlight that manipulation of chaperone levels, intracellular collagen accumulation and ER stress are potential therapeutic options for collagen IV diseases including haemorrhagic stroke.
Topics: Apoptosis; Basement Membrane; Brain Diseases; Cell Proliferation; Cells, Cultured; Collagen Type IV; Endoplasmic Reticulum Stress; Female; Hemiplegia; Humans; Intracranial Hemorrhages; Male; Mutation; Phenotype; Phenylbutyrates; Porencephaly; Proteasome Endopeptidase Complex; Stroke
PubMed: 24001601
DOI: 10.1093/hmg/ddt418 -
Case Reports in Ophthalmology 2019We report the case of a girl with a novel mutation of the gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts,...
We report the case of a girl with a novel mutation of the gene (c.2716+2T>C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. , located on chromosome 13, encodes the α1 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Different mutations have been described and may remain asymptomatic or determine porencephaly, cerebral hemorrhages, renal cysts, hematuria, and dysgenesis of the anterior segment of the eye.
PubMed: 31966034
DOI: 10.1159/000505017