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The Journal of Veterinary Medical... Dec 2016A postmortem examination revealed a large brain cavity in the right cerebral hemisphere of a 9-year-old male fennec (Vulpes zerda). The cavity was filled with...
A postmortem examination revealed a large brain cavity in the right cerebral hemisphere of a 9-year-old male fennec (Vulpes zerda). The cavity was filled with cerebrospinal fluid and extended to the right lateral ventricle. Swelling and displacement of the right hippocampal area were also observed. Histologic examination revealed no evidence of previous infarct lesions, hemorrhage, inflammation or invasive tumor cells. Observation of the defective part suggested a local circulatory disorder during the fetal stage, although the cause was not detected. No neurological symptoms that could enable a provisional diagnosis were observed during the course of his life. This is the first report of asymptomatic porencephaly in a fennec fox.
Topics: Animals; Cerebrum; Fatal Outcome; Foxes; Lymphoma, T-Cell; Male; Porencephaly
PubMed: 27523321
DOI: 10.1292/jvms.16-0121 -
Cureus Apr 2022
PubMed: 35463569
DOI: 10.7759/cureus.x19 -
Arquivos de Neuro-psiquiatria Jun 2007Early brain insults can cause cavitary lesions including porencephaly (POR) and multicystic encephalopathy (MCE). The objective of this study was to investigate clinical...
OBJECTIVE
Early brain insults can cause cavitary lesions including porencephaly (POR) and multicystic encephalopathy (MCE). The objective of this study was to investigate clinical and electrographic correlates associated to these types of destructive brain lesions.
METHOD
Patients with POR and MCE were selected and submitted to clinical and Video-EEG monitoring. The following variables were analyzed: demographic data, type of lesion, presence of gliosis, perinatal complications, epilepsy, brain atrophy, and presence and frequency of epileptiform discharges.
RESULTS
Twenty patients were included, 65% males, 35% females, ages ranging from 1 to 40 years, 14 with MCE and 6 with POR. Eighteen patients had hemiparesis, 19 had epilepsy (current or in the past), seven of them had refractory seizures, and 16 had epileptiform discharges. All patients with MCE had gliosis while only 2 with POR had it.
CONCLUSIONS
No correlation was observed between type of lesion and clinical and electrographical outcome. However, a positive correlation was observed between frequency of discharges and presence of brain atrophy, and between MCE and gliosis.
Topics: Adolescent; Adult; Atrophy; Central Nervous System Cysts; Cerebral Cortex; Child; Child, Preschool; Electroencephalography; Encephalomalacia; Epilepsy; Female; Gliosis; Humans; Infant; Magnetic Resonance Imaging; Male
PubMed: 17665007
DOI: 10.1590/s0004-282x2007000300010 -
Journal of the American Veterinary... Jun 2013
Topics: Animals; Brain; Brain Diseases; Cat Diseases; Cats; Male; Seizures
PubMed: 23725423
DOI: 10.2460/javma.242.12.1641 -
Pediatrics Nov 2003To examine the effects of bronchopulmonary dysplasia (BPD) and very low birth weight (VLBW) on the cognitive and academic achievement of a large sample of 8-year-old... (Comparative Study)
Comparative Study
OBJECTIVE
To examine the effects of bronchopulmonary dysplasia (BPD) and very low birth weight (VLBW) on the cognitive and academic achievement of a large sample of 8-year-old children.
METHODS
Infants who were VLBW and had BPD (n = 98) or did not have BPD (n = 75) and term infants (n = 99) were followed prospectively to age 8. Groups were compared on measures assessing 4 broad areas of functioning: intelligence, achievement, gross motor, and attentional skills. Measures included the Wechsler Intelligence Scale for Children III, the Woodcock Johnson Test of Achievement-Revised, the Bruininks-Oseretsky Test of Motor Proficiency, the Tactual Performance Test (spatial memory), and the Continuous Performance Test (attention). School outcomes were assessed by parent and teacher report, as well as from school records. Groups were comparable on socioeconomic status, sex, and race. The total sample of BPD, VLBW, and term children was compared on all outcome measures. In addition, neurologic risk was assessed in the present sample and included the following: intraventricular hemorrhage, echodense lesions, porencephaly, hydrocephalus, ventriculoperitoneal shunt, meningitis, and periventricular leukomalacia. Individual difference analyses were conducted for neurologically intact children in all 3 groups. Finally, treatment effects were examined by comparing BPD children who had received steroids as part of their treatment with BPD children who had not.
RESULTS
The BPD group demonstrated deficits compared with VLBW and term children in intelligence; reading, mathematics, and gross motor skills; and special education services. VLBW children differed from term children in all of the above areas, except reading recognition, comprehension, and occupational therapy. Attentional differences were obtained between BPD and term children only. The BPD group (54%) was more likely to be enrolled in special education classes than VLBW (37%) or term children (25%). In addition, more BPD children (20%) achieved full-scale IQ scores <70, in the mental retardation range, compared with either VLBW (11%) or term (3%) children, with all VLBW children significantly more likely than term children to achieve IQs in the subaverage category. After controlling for birth weight and neurologic problems, BPD and/or duration on oxygen predicted lower performance IQ, perceptual organization, full-scale IQ, motor and attentional skills, and special education placement. The qualitative classification of BPD (present or absent) was a significant predictor for lower scores on measures of applied problems; motor skills; and incidence of speech-language, occupational, and physical therapies. Individual difference analyses were performed to ascertain whether differences between the risk groups were primarily attributable to neurologic complications. Even with the neurologically intact sample of BPD and VLBW children, differences between the term comparison group and both the BPD and VLBW groups were found for many outcome measures. When birth weight and neurologic complications were controlled, BPD and severity of BPD were associated with lower performance and full-scale IQ, poorer perceptual organization, attention, and motor skills, as well as lower school achievement and greater participation in special education, including occupational, physical, and speech-language therapies. Treatment protocol may in part be responsible for differences observed in our BPD sample. Steroid and nonsteroid groups of BPD children differed significantly in performance IQ (72.8 vs 84.8) and full-scale IQ (77.0 vs 85.2); perceptual organization (74.0 vs 85.2); Bruininks-Oseretsky Test of Motor Proficiency score (36.6 vs 44.7); and participation in special education (78% vs 48%), occupational therapy (71% vs 44%), and physical therapy (71% vs 41%). In every instance, BPD children who received steroids fared more poorly than BPD children who did not receive steroids.
CONCLUSIONS
BPD and duration on oxygen have long-term adverse effects on cognitive and academic achievement above and be beyond the effects of VLBW. The problems that have been identified at 8 years of age highlight the need for continued monitoring of the learning, behavior, and development of BPD children to intervene with children who are at risk for school problems.
Topics: Bronchopulmonary Dysplasia; Child; Cognition Disorders; Educational Measurement; Follow-Up Studies; Humans; Incidence; Infant, Newborn; Infant, Very Low Birth Weight; Learning Disabilities; Neuropsychological Tests; Ohio; Prospective Studies; Psychomotor Performance; Survivors
PubMed: 14595077
DOI: 10.1542/peds.112.5.e359 -
Neurology India 2022
Topics: Brain; Brain Diseases; Cerebral Hemorrhage; Epilepsy; Humans; Porencephaly
PubMed: 35864714
DOI: 10.4103/0028-3886.349580 -
The Journal of Pharmacology and... Aug 2005Fetal liver CYP3A7 plays an important role in placental estriol synthesis during pregnancy, yet little is known concerning the extent or consequences of variability in...
Fetal liver CYP3A7 plays an important role in placental estriol synthesis during pregnancy, yet little is known concerning the extent or consequences of variability in expression. The purpose of this investigation was to characterize the variability in CYP3A7 expression using several phenotypic measures in a panel of 54 fetal livers ranging in age from 76 days to 32 weeks gestation. CYP3A7 mRNA expression was measured using quantitative polymerase chain reaction, whereas immunoreactive CYP3A7 was determined using an affinity-purified antipeptide antibody. Variability in catalytic activity was evaluated using testosterone and dehydroepiandrosterone (DHEA) as substrates. Across the entire panel, CYP3A7 was the most abundant CYP3A mRNA species present and varied 634-fold from 151 to 95,700 transcripts/ng total RNA, corrected for 18S ribosomal RNA. CYP3A4 expression was minimal based on mRNA expression (1000-fold lower than CYP3A7) and the ratio of testosterone 2alpha- (T2alphaH) to 6beta- (T6betaH) hydroxylation. T2alphaH and T6betaH were highly correlated (r(2) = 0.859), and the correlation increased (r(2) = 0.974) in livers with CYP3A5*3/*3 genotypes implying that the same enzyme (CYP3A7) generated both products. Overall, T2alphaH and DHEA16alphaH activities varied 175- and 250-fold, respectively. A subset of five samples had extremely low mRNA, protein, and catalytic activity, possibly due to pathology affecting fetal viability (anencephaly, porencephaly). In the remaining samples, T2alphaH activity varied 6.7-fold (358 +/- 142, range 97 to 643 pmol/min/mg) and DHEA16alphaH activity varied 6.2-fold (8.07 +/- 2.87, range 2.41 to 14.9 nmol/min/mg). Observed variability in CYP3A7 activity was not related to CYP3A7*2, and alternative regulatory mechanisms require further investigation.
Topics: Adult; Aryl Hydrocarbon Hydroxylases; Biotransformation; Catalysis; Chromatography, High Pressure Liquid; Cytochrome P-450 CYP3A; Cytochrome P-450 Enzyme System; DNA; Dehydroepiandrosterone; Female; Gene Expression Regulation, Enzymologic; Genotype; Humans; Hydroxylation; Immunohistochemistry; Liver; Male; Microsomes, Liver; Pregnancy; RNA; Reverse Transcriptase Polymerase Chain Reaction; Testosterone
PubMed: 15845858
DOI: 10.1124/jpet.105.086504 -
Archivos Argentinos de Pediatria Jun 2011Misoprostol is commonly used in Argentina to attempt abortion, although a certain proportion of pregnancies is not interrupted. On the other hand, various reports showed...
INTRODUCTION
Misoprostol is commonly used in Argentina to attempt abortion, although a certain proportion of pregnancies is not interrupted. On the other hand, various reports showed an association between misoprostol and congenital anomalies.
OBJECTIVES
To estimate the risk of major congenital anomalies in children prenatally exposed to misoprostol, and to know their way of consumption during pregnancy.
METHOD
A cohort study compared the frequency of abortion and major congenital abnormalities in offspring of pregnant women exposed to misoprostol (94) and an unexposed group of pregnant women (401), both groups consulting to a teratology information service.
RESULTS
Among women exposed to misoprostol only the 8.2% purchased it on prescription, 81.5% heard about its abortifacient effect by friends, neighbors or relatives, the average dose was 1.439 μg which was used both orally and vaginally by the 77.2%; the mean gestational age was 48.5 days and 35.2% used an additional abortive agent. Women exposed to misoprostol had a significantly higher frequency of abortions (exposed: 17/94= 18.1%, unexposed, 29/401= 7.2%, RR= 2.27, 95%: 1,30-3,98), and offspring with major congenital abnormalities (exposed: 5/77= 6.49%, unexposed: 8/372= 2.15%, RR= 3.02, 95%:1,02-8.98). The five malformed children prenatally exposed to misoprostol showed: 1) encephalocele and transverse limb defects; 2) porencephaly, 3) pulmonary adenomatous cystic malformation, 4) occipital encephalocele and, 5) intestinal malrotation.
CONCLUSIONS
The study found a significant association between prenatal exposure to misoprostol and the occurrence of major congenital anomalies.
Topics: Abnormalities, Drug-Induced; Abortifacient Agents, Nonsteroidal; Adult; Argentina; Female; Humans; Misoprostol; Pregnancy; Prospective Studies
PubMed: 21660388
DOI: 10.1590/S0325-00752011000300007 -
Journal of the Neurological Sciences May 2015Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly,...
Mutations in COL4A1, encoding one of the six collagen type IV proteins, cover a wide spectrum of autosomal dominant overlapping phenotypes including porencephaly, small-vessel disease and hemorrhagic stroke, leukoencephalopathy, hereditary angiopathy with nephropathy, aneurysms and muscle cramp (HANAC) syndrome, and Walker-Warburg syndrome. Over 50 mutations are known, mainly being missense changes. Intra- and inter-familial variability has been reported. We studied two Italian families in which the proband had a clinical diagnosis of COL4A1-related disorder. We found two novel mutations (c.1249G>C; p.Gly417Arg and c.2662G>C; p.Gly888Arg). Both involved highly conserved amino acids and were predicted as being deleterious by bioinformatics tools. The c.1249G>C (p.Gly417Arg) segregated in four subjects with variable neurological phenotypes, namely leukoencephalopathy with muscle symptoms, brain small-vessel disease, and mild infantile encephalopathy. A fourth case was a carrier of the mutation without any neurological symptoms and an MRI with a specific white matter anomaly. The c.2662G>C (p.Gly888Arg) mutation was de novo in the proband. After a temporary motor impairment at age 14, the subject complained of mild imbalance at age 30, during the third trimester of her twin pregnancy, when an anomaly of the left brain hemisphere was documented in one fetus. Both her male dizygotic twins presented a severe motor delay, early convulsions, and leukoencephalopathy, and were carriers of the mutation. In summary, we confirm that high intra-familial variability of COL4A1 mutations with very mild phenotypes, the apparent incomplete penetrance, and de novo changes may become a "dilemma" for clinicians and genetic counselors.
Topics: Adolescent; Adult; Brain; Collagen Type IV; Family; Female; Humans; Italy; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Motor Disorders; Mutation, Missense; Pedigree; Porencephaly; Pregnancy; Retinal Artery; Retinal Hemorrhage; Spasms, Infantile
PubMed: 25873210
DOI: 10.1016/j.jns.2015.03.042 -
Annals of Neurology Apr 2012Mutations in the type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease. We seek to determine the extent to which COL4A1 mutations...
OBJECTIVE
Mutations in the type IV collagen alpha 1 gene (COL4A1) cause dominantly inherited cerebrovascular disease. We seek to determine the extent to which COL4A1 mutations contribute to sporadic, nonfamilial, intracerebral hemorrhages (ICHs).
METHODS
We sequenced COL4A1 in 96 patients with sporadic ICH. The presence of putative mutations was tested in 145 ICH-free controls. The effects of rare coding variants on COL4A1 biosynthesis were compared to previously validated mutations that cause porencephaly, small vessel disease, and hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC) syndrome.
RESULTS
We identified 2 rare nonsynonymous variants in ICH patients that were not detected in controls, 2 rare nonsynonymous variants in controls that were not detected in patients, and 2 common nonsynonymous variants that were detected in patients and controls. No variant found in controls affected COL4A1 biosynthesis. Both variants (COL4A1(P352L) and COL4A1(R538G)) found only in patients changed conserved amino acids and impaired COL4A1 secretion much like mutations that cause familial cerebrovascular disease.
INTERPRETATION
This is the first assessment of the broader role for COL4A1 mutations in the etiology of ICH beyond a contribution to rare and severe familial cases and the first functional evaluation of the biosynthetic consequences of an allelic series of COL4A1 mutations that cause cerebrovascular disease. We identified 2 putative mutations in 96 patients with sporadic ICH and showed that these and other previously validated mutations inhibit secretion of COL4A1. Our data support the hypothesis that increased intracellular accumulation of COL4A1, decreased extracellular COL4A1, or both, contribute to sporadic cerebrovascular disease and ICH.
Topics: Aged; Amino Acid Sequence; Blotting, Western; Cerebral Hemorrhage; Cerebrovascular Disorders; Collagen Type IV; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Humans; Male; Molecular Sequence Data; Mutation
PubMed: 22522439
DOI: 10.1002/ana.22682