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Current Opinion in Structural Biology Jun 2019Despite the ubiquity of collagens in the animal kingdom, little is known about the biology of the disaccharide Glc(α1-2)Gal(β1-O) bound to hydroxylysine across... (Review)
Review
Despite the ubiquity of collagens in the animal kingdom, little is known about the biology of the disaccharide Glc(α1-2)Gal(β1-O) bound to hydroxylysine across collagens from sponges to mammals. The extent of collagen glycosylation varies by the types of collagen, with basement membrane collagen type IV being more glycosylated than fibrillar collagens. Beyond true collagens, proteins including collagen domains such as the complement protein 1Q and the hormone adiponectin also feature glycosylated hydroxylysine. Collagen glycosylation is initiated in the endoplasmic reticulum by the galactosyltransferases COLGALT1 and COLGALT2. Mutations in the COLGALT1 gene cause cerebral small vessel abnormality and porencephaly, which are common in collagen type IV deficiency. Beyond the strongly conserved Glc(α1-2)Gal(β1-O) glycan, additional forms of collagen glycosylation have been described in the deep-sea worm Riftia pachyptila and in the giant virus Mimivirus, thereby suggesting that further forms of collagen glycosylation are likely to be identified in the future.
Topics: Animals; Collagen; Disease; Glycosylation; Glycosyltransferases; Humans
PubMed: 30822656
DOI: 10.1016/j.sbi.2019.01.015 -
Internal Medicine (Tokyo, Japan) Dec 2021
Topics: Cerebral Hemorrhage; Humans; Porencephaly
PubMed: 34148964
DOI: 10.2169/internalmedicine.7446-21 -
Acta Neurologica Belgica Jun 2022
Topics: Brain; Brain Diseases; Humans; Magnetic Resonance Imaging; Malformations of Cortical Development; Porencephaly
PubMed: 33728580
DOI: 10.1007/s13760-021-01652-y -
Medicina (Kaunas, Lithuania) Apr 2022Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of... (Review)
Review
Porencephaly, a rare disease affecting the central nervous system, is represented by a cerebrospinal fluid-filled cavity in the brain. There are two types of porencephalic cavities: congenital and acquired. Porencephaly is mainly associated with neurological and developmental consequences. Associated psychotic symptoms were reported in a few cases, and due to this fact, there is a knowledge gap regarding the diagnostic and therapeutic approach to such cases. We present the case of a 32-year-old male diagnosed with a psychotic disorder associated with acquired porencephaly. The porencephalic cystic lesions were most probably due to a traumatic brain injury at the age of 6 years old. The psychotic symptomatology consisted of interoceptive/visceral hallucinations, delusions with persecutory and religious/magic content and disorganised behaviour. The porencephalic cavity was confirmed by a computed tomography scan. The patient was treated over the course of time with risperidone, olanzapine and zuclopenthixol. The existing literature regarding other cases of psychosis associated with porencephaly is discussed. In conclusion, even though porencephaly was asymptomatic for a long period of time, we argue that there is a causal relationship between the chronic psychotic symptoms and the porencephalic cyst in our case.
Topics: Adult; Brain; Brain Diseases; Child; Humans; Incidental Findings; Male; Porencephaly; Psychotic Disorders
PubMed: 35630003
DOI: 10.3390/medicina58050586 -
Pediatrics in Review Oct 2020
Topics: Brain; Brain Diseases; Calcinosis; Humans; Infant, Newborn; Porencephaly
PubMed: 33004666
DOI: 10.1542/pir.2018-0309 -
A.M.A. Archives of Ophthalmology Oct 1955
Topics: Brain; Brain Diseases; Brain Neoplasms; Central Nervous System Cysts; Congenital Abnormalities; Humans; Nervous System Malformations; Porencephaly
PubMed: 13257984
DOI: 10.1001/archopht.1955.00930020547007 -
Obstetrical & Gynecological Survey Sep 1995Porencephaly may result from either a developmental anomaly or an antepartum intraparenchymal insult. Pre- and postnatal ultrasonography can demonstrate characteristic... (Review)
Review
Porencephaly may result from either a developmental anomaly or an antepartum intraparenchymal insult. Pre- and postnatal ultrasonography can demonstrate characteristic images of porencephaly. There is minimal literature on diagnosis and outcome of antenatally diagnosed porencephaly. There are two types of porencephaly: type I is generally due to an antepartum intraparenchymal hemorrhage. Type II lesions are usually developmental anomalies. Prognosis generally depends on the extent of the lesion.
Topics: Brain Diseases; Cysts; Fetal Diseases; Humans; Prognosis
PubMed: 7478420
DOI: 10.1097/00006254-199509000-00023 -
The Journal of the Association of... May 2023
Topics: Humans; Aged; Porencephaly; Brain Diseases; Brain
PubMed: 37355830
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 2000
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Journal of Toxicologic Pathology Jan 2022A female TOYO beagle dog showed porencephaly and visual organ abnormalities. At necropsy, there was a cavity filled with cerebrospinal fluid in the right cerebral...
A female TOYO beagle dog showed porencephaly and visual organ abnormalities. At necropsy, there was a cavity filled with cerebrospinal fluid in the right cerebral hemisphere and an adhesion area between the cerebral cortex and the skull, which was partially thickened. Additionally, the right optic nerve showed a slight decrease in diameter. Histopathological examination revealed increased glial fibers and collagen fibers, hemosiderin deposition, and an increased number of microglia in the adhesion area, along with a marked reduction of the cerebral parenchyma. In the right eyeball, the retina and optic nerve showed focal atrophy in the nerve fiber layer and inner granular layer to full retinal atrophy and hypoplasia of the myelinated nerve fibers, respectively. Electron microscopic examination revealed hypoplasia of the myelin sheath of nerve fibers in the right optic nerve. This is an extremely rare case of porencephaly and congenital optic nerve hypoplasia, along with independent retinal thinning.
PubMed: 35221503
DOI: 10.1293/tox.2021-0039