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Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models

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World Journal of Pediatrics 2019年第5期15卷 454-464页

作者： Zhen Shi Hui-Fang Yan Bin-Bin Cao Mang-Mang Guo Han Xie Kai Gao Jiang-Xi Xiao Yan-Ling Yang Hui Xiong Qiang Gu Ming Li Ye Wu Yu-Wu Jiang Jing-Min Wang Department of Pediatrics Peking University First HospitalNo.1 Xi'an Men StreetWest DistrictBeijing 100034China Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases Peking University First HospitalBeijing 100034China Guangzhou Women and Children's Medical Center Guangzhou 510623China Department of Pediatrics Beijing Tian Tan HospitalCapital Medical UniversityBeijing 100050China Department of Radiology Peking University First HospitalBeijing 100034China Key Laboratory for Neuroscience Ministry of Education/National Health Commission of the People's Republic of ChinaPeking UniversityBeijing 100034China

Background Megalencephalic leukoencephalopathy with subcortical cysts(MLC)is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis,characterized by macrocephaly,delayed motor and cognitive development,and bilateral abnormal signals in cerebral white matter(WM)with or without cysts on magnetic resonance imaging(MRI).This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological characteristics and prognosis of mouse models with different modes of *** Clinical information and peripheral venous blood were collected from six *** analysis was performed by Sanger sequencing of ***^(Arg92Trp/+)and Glialcam^(Lys68Met/Thr132Asn)mouse models were generated based on mutations from patients(c.274C>T(***92Trp)(c.203A>T(***68Met),and c.395C>A(***132Asn))).Brain pathologies of the mouse models at different time points were *** Six patients were clinically diagnosed with *** the six patients,five(Pt1-Pt5)presented with a heterozygous mutation in GLIALCAM(c.274C>T(***92Trp)or c.275G>C(***92Pro))and were diagnosed with MLC2B;the remaining patient(Pt6)with two compound heterozygous mutations in GLIALCAM(c.203A>T(***68Met)and c.395C>A(***132Asn))was diagnosed with *** mutation c.275C>G(***92Pro)has not been reported *** manifestations of the patient with MLC2A(Pt6)progressed with regression,whereas the course of the five MLC2B patients remained stable or *** Glialcam^(Arg92Trp/+)and Glialcam^(Lys68Met/Thr132Asn)mouse models showed vacuolization in the anterior commissural WM at 1 month of age and vacuolization in the cerebellar WM at 3 and 6 months,*** 9 months,the vacuolization of the GlialcamiLys68Met/Thr132Asn mouse model was heavier than that of the Glialcam^(Arg92Trp/+)mouse mode

关键词： GLIALCAM Knock-in mouse model Macrocephaly Megalencephalic leukoencephalopathy with subcortical cysts vacuolization

Microscopic examination of pituitary glands in cases of fatal accidental hypothermia

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Forensic Sciences Research 2017年第3期2卷 132-138页

作者： Elke Doberentz Burkhard Madea Institute of Forensic Medicine University of BonnBonnGermany

In cases of death caused by hypothermia,histological analysis can be used to determine the cause of *** histological alterations of the pituitary glands in hypothermia have been reported in the literature,including haemorrhage,hyperaemia and cellular vacuolization of cells in the anterior *** the present study,the validity of these morphological alterations as markers for fatal accidental hypothermia was investigated in autopsy material.A total of 34 pituitary glands in cases of verified fatal accidental hypothermia were examined histologically(haematoxylin and eosin,ferric,azan)and immunohistochemically(LCA,ACTH,C5b-9).The findings were compared with 61 cases in a control *** was found in 50.0%of the study group cases and 59.0% of the control group *** vacuolization was observed in one case(2.9%)in the study group and one case(1.6%)in the control *** or recent haemorrhage in the glandular tissue was never *** our study,the histopathological characteristics described in the literature as pathognomonic for hypothermia could not be ***,histological differences in the pituitary glands between fatal hypothermia cases and control group cases were not observed.

关键词： Forensic pathology adenohypophysis haemorrhage hypothermia hyperaemia pituitary gland vacuolization post-mortem examination

Bacteroides fragilis Supernatant Extracts Enriched in Phenylacetic Acid Induce a Cytotoxic Effect in Mammalian Cells

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Advances in Microbiology 2015年第10期5卷 730-736页

作者： Laís S.Falcao Eduardo N.F.Antunes Eliane O.Ferreira Heidi Pauer Maria Teresa V.Romanos Rossiane C.Vommaro Sérgio H.Seabra Daniela S.Alviano Celuta S.Alviano Antonio Jorge R.da Silva Leandro A.Lobo Regina Maria C.P.Domingues Departamento de Ciências Básicas Pólo Universitário de Nova FriburgoUniversidade Federal FluminenseNova FriburgoBrasil Instituto de Microbiologia Prof.Paulo de Góes Universidade Federal do Rio de JaneiroRio de JaneiroBrasil Instituto de Biofísica Carlos Chagas Filho Universidade Federal do Rio de JaneiroRio de JaneiroBrasil Centro Universitário Estadual da Zona Oeste—UEZO Rio de JaneiroBrasil Instituto de Pesquisa Produtos Naturais Universidade Federal do Rio de JaneiroRio de JaneiroBrasil

Bacteroides species are nearly half of the fecal flora community and some are host symbionts crucial to host nutrition and systemic immunity. Among Bacteroides species B. fragilis strains are considered to be the opportunistic ones, being the most isolated anaerobic bacteria in clinical samples. Cell-free supernatants of 65 B. fragilis strains were assayed and they were capable of inducing vacuolating phenotype on Vero cells lineage. The supernatant of the Bacteroides fragilis ATCC 23745 strain was elicited to have the strongest vacuolating effect on Vero cells monolayers and peritoneal macrophages. Some drastic cell alterations were observed, such as a general disorganization of cytoplasm and chromatin condensation, evidencing cell death. By transmission electron microscopy it was confirmed that the vacuoles observed were, in fact, swollen mitochondria. An immunocytochemical assay, TUNEL, was used to confirm this hypothesis and showed that Vero cells and peritoneal macrophages were dying by apoptotic process after exposition of B. fragilis cell-free supernatant. Physical analysis of the apoptotic factor has revealed properties similar to short-chain fatty acids. After gas chromatography and mass spectrometry analysis, phenylacetic acid (PA) was characterized as the major compound present in the most purified active fraction. We believe that the PA is responsible for the pro-apoptotic effect elicited by the supernatant of B. fragilis cultures.

关键词： Bacteroides fragilis vacuolization Apoptosis Vero cells Lineage Peritoneal Macrophages Phenylacetic Acid

Histopathology of renal asphyxia in newborn piglets: Individual susceptibility to tubular changes

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World Journal of Nephrology 2015年第2期4卷 313-318页

作者： Clara Gerosa Nicoletta Iacovidou Ioanna Argyri Daniela Fanni Apostolos Papalois Filippia Aroni Gavino Faa Theodoros Xanthos Vassilios Fanos Department of Pathology University of Cagliari National and Kapodistrian University of Athens ELPEN Research-Experimental Center Laboratory of Experimental Surgery and Surgical Research University of Athens Department of Neonatology University of Cagliari

AIM： To analyze the effects on the kidney of hypoxia-reoxygenation in an experimental model of normocapnic ***： To this end, 40 newborn Landrace/Large-White piglets aged 1-4 d were studied in this work. Hypoxia was induced by decreasing the inspired fiO2 to 0.06-0.08. Animals were resuscitated with different fO2 and subdivided into 4 groups： group 1, 2, 3 and 4 received 18%, 21%, 40% and 100% O2 respectively. Macroscopic examination was carried out to evidence possible pathological features. Tissue sample were obtained from both kidneys. Four or fve micron paraffn sections were stained with H-E and PAS stain and examined under an optical ***： Pathological changes, mainly affecting tubular cells, were observed in the vast majority of kidneys of asphyxiated piglets. The most frequent tubular changes were： tubular casts （95%）, tubulardilatation （87.5%）, tubular vacuolization （70%）, tubular eosinophilia （52.5%）, sloughing （50%）, fragmentation of the brush border （50%）, oedema （32.5%）, apoptosis （15%） and glomerular changes （meningeal cell pro-liferation, capsular adhesion between the flocculus and Bowman’s capsule, glomerulosclerosis and fbrous or cellular crescents associated with collapse of the glomerular tuft）. Statistical analysis was carried out on changes observed when the animals were allocated in the 4 groups （χ2-test 0.05）. The statistical analysis showed no evidence of differences regarding kidney lesions among the animals ***： Our data show that renal pathology in newborn piglets is characterized by interindividual variability to hypoxia and is not associated with oxygenGerosa C et al . Individual susceptibility in renal asphyxiaconcentration.

关键词： Asphyxia Kidney Tubular eosinophilia Tubular dilatation vacuolization Sloughing Apoptosis Brush border fragmentation