Dataset Information

Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees.

ABSTRACT: Background and aims: Dysplasminogenemia is a rare heritable disease caused by plasminogen (PLG) gene defects resulting in hypercoagulability. In this report we describe three notable cases of cerebral infarction (CI) complicated with dysplasminogenemia in young patients. Methods: Coagulation indices were examined on STAGO STA-R-MAX analyzer. PLG: A was analyzed using a chromogenic substrate-based approach using a chromogenic substrate method. All nineteen exons of PLG gene and their 5'and 3'flanking regions were amplified by Polymerase chain reaction (PCR). Suspected mutation was confirmed by reverse sequencing. Results: PLG activity (PLG:A) in proband 1 and 3 of his tested family members, proband 2 and 2 of his tested family members, and proband 3 and her father were all reduced to roughly 50% of normal levels. Sequencing led to the identification of a heterozygous c.1858G>A missense mutation in exon 15 of the PLG gene in these three patients and affected family members. Conclusion: We conclude that the observed reduction in PLG:A was the result of this p.Ala620Thr missense mutation in the PLG gene. The CI incidence in these probands may be attributable to the inhibition of normal fibrinolytic activity as a consequence of this heterozygous mutation.

SUBMITTER: Chen X

PROVIDER: S-EPMC10097879 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees.

Chen Xuanyu X Zou Ming M Lu Chunxing C Zhou Ruyi R Lou Shuyue S Wang Yujia Y Ding Hongxiang H Han Zhao Z Hu Beilei B

Frontiers in genetics 20230330

<b>Background and aims:</b> Dysplasminogenemia is a rare heritable disease caused by plasminogen (PLG) gene defects resulting in hypercoagulability. In this report we describe three notable cases of cerebral infarction (CI) complicated with dysplasminogenemia in young patients. <b>Methods:</b> Coagulation indices were examined on STAGO STA-R-MAX analyzer. PLG: A was analyzed using a chromogenic substrate-based approach using a chromogenic substrate method. All nineteen exons of PLG gene and thei ...[more]

PMID: 37065478

Similar Datasets

Project description:Background and aimsRecent evidence suggest that microbiota is associated with almost all major types of diseases, including cardiovascular diseases. However, its role in Acute Cerebral Infarction remains unexplored. It is important to understand the diversity and distribution of gut microbiota (GM) in patients with Acute Cerebral Infarction and the role that GM plays in this type of disease.MethodsWe performed pyrosequencing on the gut microbiota of 40 individuals in order to elucidate whether the composition of the microbiota differs between patients with Acute Cerebral Infarction and healthy controls: Of these individuals, there were 31 with Acute Cerebral Infarction and nine controls. We applied linear regression to calculate the correlation between the gut flora and disease risk factors. Finally, KEGG functional enrichment analysis was conducted to examine the correlation between the gut flora and Acute Cerebral Infarction.ResultsThe overall microbial structure was similar in both the controls and the patients, but the control group had higher relative presence of Blautia obeum while the presence of Streptococcus infantis and Prevotella copri were relatively higher in the patient group. Using linear regression, we found that Blautia obeum was negatively associated with white blood cell count and Streptococcus infantis was positively correlated with creatinine and lipoprotein. The KEGG pathway analysis indicated that the bio-pathways including methane metabolism, lipopolysaccharide synthesis, bacterial secretion, and flagellar assembly of the gut microbiota in the patient group was expressed differently than that of the controls. We identified three differentially expressed gut microbial functions in Acute Cerebral Infarction and found four bacterial pathways that might be related to the development of this disease.ConclusionsOur study identified three abnormally-expressed bacteria-Blautia obeum, Streptococcus infantis, and Prevotella copri-in patients with Acute Cerebral Infarction compared with healthy controls. It reveals a correlation of these bacterial species with Acute Cerebral Infarction as they relate to disease factors and functional pathways. These findings may shed light on the treatment of cerebral infarction because gut microbiota could serve as a potential therapeutic approach for the treatment of cardiovascular and metabolic diseases.

Project description:BackgroundMalignant cerebral edema (CED) complicates at least 20 % of large hemispheric infarcts (LHI) and may result in neurological deterioration or death. Midline shift (MLS) is a standard but crude measure of edema severity. We propose that volumetric analysis of shifts in cerebrospinal fluid (CSF) over time provides a reliable means of quantifying the spectrum of edema severity after LHI.MethodsWe identified 38 patients from 2008 to 2014 with NIHSS ≥8, baseline CT <6 h after stroke onset, at least 1 follow-up (FU) CT, and no parenchymal hematoma. The volumes of CSF (sulci, ventricles, and cisterns) ipsilateral (IL) and contralateral (CL) to infarct on baseline and FU CTs were quantified by manually assisted outlining with MIPAV image analysis software, as was infarct volume and MLS on FU CTs. Percentage change in CSF volumes (∆CSF) from baseline to FU scans was correlated with MLS and compared in those with vs. without malignant edema (defined as hemicraniectomy, osmotic therapy, or death/neurological deterioration with MLS ≥5 mm).Results11 of 38 subjects (29 %) developed malignant edema. Neither baseline NIHSS nor CSF volume differed between those with and without edema (median NIHSS 18 vs. 13, p = 0.12, CSF volume 102 vs. 124 ml, p = 0.16). Inter-rater reliability for CSF measurements was excellent (intraclass correlation coefficient 0.97). ∆CSF correlated strongly with MLS at peak edema (r = -0.75), even adjusting for infarct volume (p = 0.009). ∆CSF was also greater in those with malignant edema [-55 % (IQR -49 to -62) vs. -36 % (-27 to -45), p = 0.004]. ∆CSF was the greatest within IL sulci [-97 % (-86 to -99) vs. -71 % (-41 to -79), p = 0.002] but also significantly greater within CL sulci in those with malignant edema [-50 % (-29 to -65) vs. -25 % (0 to -31), p = 0.014]. More than half this CSF volume reduction occurred by the time of first FU CT around 24 h after stroke, while MLS rose later.ConclusionsVolumetric CSF analysis reliably quantifies CED and distinguishes those with malignant edema and MLS from those with a more benign course after LHI. ∆CSF may provide an earlier and more sensitive indicator of edema severity across a broader dynamic range than MLS.

Dataset Information

Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees.

Publications

Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets