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Proceedings of the Royal Society of... Feb 1964
Topics: Brain Diseases; Cerebrospinal Fluid; Cleft Lip; Cleft Palate; Congenital Abnormalities; Humans; Hydranencephaly; Infant; Infant, Newborn; Microcephaly
PubMed: 14116025
DOI: No ID Found -
BMJ Case Reports Mar 2011A 21-year-old male presented to us in status epilepticus. On investigation, he was found to have an extremely rare disorder called 'hemihydranencephaly'. Review of... (Review)
Review
A 21-year-old male presented to us in status epilepticus. On investigation, he was found to have an extremely rare disorder called 'hemihydranencephaly'. Review of literature revealed that hemihydranencephaly was not always incompatible with life and that research into this disorder would help in understanding the development, functioning, untapped potential and reorganisation capacity of the brain.
Topics: Humans; Hydranencephaly; Magnetic Resonance Imaging; Male; Status Epilepticus; Young Adult
PubMed: 22699482
DOI: 10.1136/bcr.12.2010.3658 -
Journal of Korean Medical Science Dec 1991The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem...
The causes of congenital hydrocephalus vary widely and have an important effect in determining the future counseling of affected cases. We analyzed the postmortem findings of 49 autopsies diagnosed as hydrocephalus to find the causes and related conditions. The cases were collected during the last 10 years (1981-1990). The cases consisted of 25 cases associated with various congenital malformations of the central nervous system (CNS), 14 cases of posthemorrhagic hydrocephalus, 4 cases of postinfection hydrocephalus, and 2 cases of hydranencephaly. Four cases were associated with supracerebellar arachnoid cyst (1) and unknown causes (3). Twenty-five cases associated with congenital malformation of the CNS consisted of 10 cases of holotelencephaly, 5 cases of stenosis of the Sylvian aqueduct, 4 cases of agenesis of the corpus callosum, and 3 cases each of Dandy-Walker malformation and Arnold-Chiari malformation. Various malformations of other organs were associated with these cases. Cardiovascular malformations were common, consisting of 11 cases of patent ductus arteriosus (PDA), 7 cases of atrial septal defect (ASD), and 6 cases of patent foramen ovale (PFO). Among the anomalies of the respiratory system, abnormal lobation was commonly associated, as well as hypoplasia of the lung. Gastrointestinal malformations included Meckel's diverticulum, diaphragmatic hernia, mobile intestine, and midline small liver. Cryptorchidism was the most common malformation in the genitourinary system. Holotelencephaly cases showed multiple craniofacial anomalies, as well as other malformations in the central nervous system. Skeletal malformations included polydactyly, simian crease, and flexion deformity. There were no specific constellations of malformations in these different groups of CNS malformations associated with hydrocephalus.
Topics: Abnormalities, Multiple; Autopsy; Central Nervous System; Cerebral Hemorrhage; Female; Fetal Diseases; Herpes Simplex; Humans; Hydrocephalus; Infant, Newborn; Male
PubMed: 1844637
DOI: 10.3346/jkms.1991.6.4.287 -
Veterinary Research 2004To determine the teratogenic potential of Aino virus (AINOV) in cattle, pregnant cows and fetal cattle were infected with a fresh isolate of AINOV. Five pregnant cows... (Clinical Trial)
Clinical Trial Randomized Controlled Trial
To determine the teratogenic potential of Aino virus (AINOV) in cattle, pregnant cows and fetal cattle were infected with a fresh isolate of AINOV. Five pregnant cows were inoculated intravenously with the virus at 122 to 162 days of gestation and allowed to give birth. All of the cows developed neutralizing antibodies to the virus, indicating that the cows had been infected with the virus; however, no clinical abnormalities were seen in their six newborn calves, and no specific antibodies to the virus were detected in the precolostral serum of calves. Five fetuses with fetal ages ranging from 132 to 156 days were inoculated in utero with the virus. One weak newborn and four stillborn calves were delivered at gestation days 256 to 263, i.e., less than the standard gestation term; they had congenital abnormalities including arthrogryposis, hydranencephaly and cerebellar hypoplasia. Antibodies specific to AINOV were detected in their precolostral serum. These results demonstrate that AINOV is a potential etiological agent of congenital malformation of cattle.
Topics: Abnormalities, Multiple; Anencephaly; Animals; Antibodies, Viral; Arthrogryposis; Bunyaviridae; Bunyaviridae Infections; Cattle; Cattle Diseases; Female; Hydranencephaly; Pregnancy; Pregnancy Complications, Infectious; Syndrome
PubMed: 15369656
DOI: 10.1051/vetres:2004029 -
Journal of Virology Aug 2017(AKAV) and Schmallenberg virus (SBV) are members of the genus , which are transmitted by arthropod vectors with a broad cellular tropism as well as Both AKAV and SBV...
(AKAV) and Schmallenberg virus (SBV) are members of the genus , which are transmitted by arthropod vectors with a broad cellular tropism as well as Both AKAV and SBV cause arthrogryposis-hydranencephaly syndrome in ruminants. The main cellular receptor and attachment factor for entry of these orthobunyaviruses are unknown. Here, we found that AKAV and SBV infections were inhibited by the addition of heparin or enzymatic removal of cell surface heparan sulfates. To confirm this finding, we prepared heparan sulfate proteoglycan (HSPG)-knockout (KO) cells by using a clustered regularly interspaced short palindromic repeat (CRISPR)-Cas9 system and measured the quantities of binding of these viruses to cell surfaces. We observed a substantial reduction in AKAV and SBV binding to cells, limiting the infections by these viruses. These data demonstrate that HSPGs are important cellular attachment factors for AKAV and SBV, at least , to promote virus replication in susceptible cells. AKAV and SBV are the etiological agents of arthrogryposis-hydranencephaly syndrome in ruminants, which causes considerable economic losses in the livestock industry. Here, we identified heparan sulfate proteoglycan as a major cellular attachment factor for the entry of AKAV and SBV. Moreover, we found that heparin is a strong inhibitor of AKAV and SBV infections. Revealing the molecular mechanisms of virus-host interactions is critical in order to understand virus biology and develop novel live attenuated vaccines.
Topics: Animals; Cell Line; Cricetinae; Heparan Sulfate Proteoglycans; Humans; Orthobunyavirus; Receptors, Virus; Virus Attachment
PubMed: 28539443
DOI: 10.1128/JVI.00503-17 -
Journal of Korean Neurosurgical Society Jun 2014Hydranencephaly is a rare congenital disease defined as an absence of cerebral hemispheres with an intact thalamus, brain stem, and cerebellum. Generally, patients with...
Hydranencephaly is a rare congenital disease defined as an absence of cerebral hemispheres with an intact thalamus, brain stem, and cerebellum. Generally, patients with hydranencephaly require cerebro-spinal fluid diversion due to progressive hydrocephalus. An excellent view of the choroid plexus and advancement of the neurosurgical endoscope were possible, leading to easy coagulation of the choroid plexus to balance cerebro-spinal fluid production without the use of a shunt device. We present this rare case and good treatment outcome from endoscopic coagulation of the choroid plexus.
PubMed: 25237437
DOI: 10.3340/jkns.2014.55.6.375 -
Korean Journal of Pediatrics Sep 2017Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results...
PURPOSE
Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay.
METHODS
We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed.
RESULTS
Fifteen male and 12 female patients with a mean age of 29.3±17.6 months were included. The most common physical and neurological abnormalities were facial dysmorphism (n=16), epilepsy (n=7), and hypotonia (n=7). Pathogenic copy number variation results were observed in 4 patients (14.8%): 18.73 Mb dup(2)(p24.2p25.3) and 1.62 Mb del(20p13) (patient 1); 22.31 Mb dup(2) (p22.3p25.1) and 4.01 Mb dup(2)(p21p22.1) (patient 2); 12.08 Mb del(4)(q22.1q24) (patient 3); and 1.19 Mb del(1)(q21.1) (patient 4). One patient (3.7%) displayed a variant of uncertain significance. Four patients (14.8%) displayed discordance between G-banded karyotyping and array CGH results. Among patients with normal array CGH results, 4 (16%) revealed brain anomalies such as schizencephaly and hydranencephaly. One patient was diagnosed with Rett syndrome and one with Möbius syndrome.
CONCLUSION
As chromosomal microarray can elucidate the cause of previously unexplained developmental delay, it should be considered as a first-tier cytogenetic diagnostic test for children with unexplained developmental delay.
PubMed: 29042871
DOI: 10.3345/kjp.2017.60.9.282 -
Molecular Genetics & Genomic Medicine Feb 2024Variants in the Aristaless-related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include... (Review)
Review
BACKGROUND
Variants in the Aristaless-related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X-linked Ohtahara syndrome or Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early-onset epileptic encephalopathy with arrested psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes.
METHODS
We presented a case report of a 2-year-old boy who exhibited symptoms such as microcephaly, seizures, and severe multifocal epileptic abnormalities, and genetic techniques such as autozygosity mapping, Sanger sequencing, and whole-exome sequencing.
RESULTS
We confirmed that the patient had the NM_139058.3:c.84C>A; p.(Cys28Ter) mutation in the ARX gene.
CONCLUSION
The patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in the ARX gene, emphasizing the role of genetic testing in EIEE diagnosis.
Topics: Male; Humans; Child, Preschool; Spasms, Infantile; Homeodomain Proteins; Epilepsy; Transcription Factors
PubMed: 38400608
DOI: 10.1002/mgg3.2412 -
Journal of Virology Sep 2015We generated a recombinant Akabane virus (AKAV) expressing enhanced green fluorescence protein (eGFP-AKAV) by using reverse genetics. We artificially constructed an...
UNLABELLED
We generated a recombinant Akabane virus (AKAV) expressing enhanced green fluorescence protein (eGFP-AKAV) by using reverse genetics. We artificially constructed an ambisense AKAV S genome encoding N/NSs on the negative-sense strand, and eGFP on the positive-sense strand with an intergenic region (IGR) derived from the Rift Valley fever virus (RVFV) S genome. The recombinant virus exhibited eGFP fluorescence and had a cytopathic effect in cell cultures, even after several passages. These results indicate that the gene encoding eGFP in the ambisense RNA could be stably maintained. Transcription of N/NSs and eGFP mRNAs of eGFP-AKAV was terminated within the IGR. The mechanism responsible for this appears to be different from that in RVFV, where the termination sites for N and NSs are determined by a defined signal sequence. We inoculated suckling mice intraperitoneally with eGFP-AKAV, which resulted in neurological signs and lethality equivalent to those seen for the parent AKAV. Fluorescence from eGFP in frozen brain slices from the eGFP-AKAV-infected mice was localized to the cerebellum, pons, and medulla oblongata. Our approach to producing a fluorescent virus, using an ambisense genome, helped obtain eGFP-AKAV, a fluorescent bunyavirus whose viral genes are intact and which can be easily visualized.
IMPORTANCE
AKAV is the etiological agent of arthrogryposis-hydranencephaly syndrome in ruminants, which causes considerable economic loss to the livestock industry. We successfully generated a recombinant enhanced green fluorescent protein-tagged AKAV containing an artificial ambisense S genome. This virus could become a useful tool for analyzing AKAV pathogenesis in host animals. In addition, our approach of using an ambisense genome to generate an orthobunyavirus stably expressing a foreign gene could contribute to establishing alternative vaccine strategies, such as bivalent vaccine virus constructs, for veterinary use against infectious diseases.
Topics: Animals; Bunyaviridae Infections; Cell Line; Cerebellum; Cricetinae; Gene Expression; Genome, Viral; Green Fluorescent Proteins; Medulla Oblongata; Mice; Organisms, Genetically Modified; Orthobunyavirus
PubMed: 26157127
DOI: 10.1128/JVI.00681-15 -
The Journal of Veterinary Medical... Feb 2000Of 822 calves, ranging in age between one day and six months necropsied between 1996 and 1998 at Miyazaki University, histological examination showed that 25 (3.0%) had...
Of 822 calves, ranging in age between one day and six months necropsied between 1996 and 1998 at Miyazaki University, histological examination showed that 25 (3.0%) had ocular lesions. These ocular lesions consisted of suppurative inflammation (13 cases), cataract (seven cases), and retinal atrophy (five cases). Inflammatory changes were classified as suppurative keratitis (one case), keratitis and uveitis (ten cases), and uveitis and retinitis (two cases). Cataract was subclassified into three categories; cortical (three cases), nuclear (one case), and mature (three cases). These lesions were characterized by degenerative changes in the lens fibers and the appearance of eosinophilic globules known as Morganian globules. In the most severely affected case, there was capsular rupture of the lens, resulting in severe infiltration by eosinophils and histiocytes of the whole anterior chamber. Almost all the calves with retinal atrophy had been suffering from severe hydranencephaly and three had significantly raised levels of neutralization antibodies for the Akabane and/or Aino viruses. This study indicates that congenital arbovirus infections may predispose calves to ocular diseases, especially retinal atrophy.
Topics: Animals; Cataract; Cattle; Cattle Diseases; Eye Diseases; Japan; Keratitis; Uveitis
PubMed: 10720184
DOI: 10.1292/jvms.62.147