scholarly journals The diagnostic value of vacuolar characterization in muscular biopsy in Pompe's Disease

2021 ◽  
Vol 29 ◽  
pp. 1-20
Author(s):  
Beatriz Akemi Gonçalves ◽  
Acary Souza Bulle de Oliveira
Keyword(s):  
Muscle Biopsy ◽  
Neuromuscular Diseases ◽  
Diagnostic Value ◽  
Mitochondrial Activity ◽  
Biopsy Material ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Determining Factors ◽  
Histological Characteristics

Introduction. Through muscle biopsy we can observe the formation of vacuoles that alter the structure of cells and tissues in Pompe's disease. The presence of these vacuoles varies as the disease progresses, relating to the broad clinical spectrum presented by the disease. Objectives. After confirming the disease, examine the possibility of diagnosing or excluding the diagnosis of Pompe's disease through the vacuolar characteristics presented. Method. Analysis of the muscle biopsy material of selected patients at the Neuromuscular Diseases Investigation Clinic at the Federal University of São Paulo. Through staining and histochemical techniques, a comparative study of the histological characteristics found was performed. Results. Thirty-three biopsies had the diagnosis of Pompe's disease confirmed, being 13 women and 20 men. Of this group, 23 received the diagnosis when they were 18 years old or more, and 10 received the diagnosis under the age of 18 years. Delimiting membrane and subsarcolemal location were the main vacuolar characteristic found, manifesting in 86.6% of the studied cases. Integration between the vacuole membranes was observed in 62.5% of the cases. We also found necrosis, replacement of muscle tissue by connective or adipose tissue, increased mitochondrial activity and absence of predominance in one type of fiber. Conclusion. Muscle biopsy allows to analyze a series of peculiarities presented by vacuoles in Pompe's Disease and, thus, it proves to be a sure technique, allowing to reach a quick conclusion and to identify determining factors for the clinical conduct and maintenance of quality of life of the patient with Pompe's disease.

Diagnostic value of muscle biopsy for neuromuscular diseases

2017 ◽  
Vol 381 ◽  
pp. 473-474
Author(s):  
S. Kimura ◽  
H. Nakanishi ◽  
S. Noda ◽  
A. Murakami ◽  
M. Iijima ◽  
...  
Keyword(s):  
Muscle Biopsy ◽  
Neuromuscular Diseases ◽  
Diagnostic Value

Mitochondrial activity in pompe’s disease

2000 ◽  
Vol 23 (1) ◽  
pp. 54-57 ◽  
Author(s):  
Mary A Selak ◽  
Jean Pierre de Chadarevian ◽  
Joseph J Melvin ◽  
Warren D Grover ◽  
Leon Salganicoff ◽  
...  
Keyword(s):  
Mitochondrial Activity ◽  
Pompe’S Disease ◽  
Pompe's Disease

Value of cone beam computed tomography to evaluate complication of intracranial haemorrhage in endovascular treatment (evt): a case report

2019 ◽  
Vol 1 (1) ◽  
pp. 16-18 ◽  
Author(s):  
Norafida Bahari ◽  
Nik Azuan Nik Ismail ◽  
Jegan Thanabalan ◽  
Ahmad Sobri Muda
Keyword(s):  
Computed Tomography ◽  
Arteriovenous Malformation ◽  
Endovascular Treatment ◽  
Cone Beam Computed Tomography ◽  
Diagnostic Value ◽  
Cone Beam ◽  
Brain Arteriovenous Malformation ◽  
Embolic Materials

In this article, we evaluate the effectiveness of Cone Beam Computed Tomography, through a case study, in assessing the complication of intracranial bleeding during an endovascular treatment of brain arteriovenous malformation when compared to Multislice-Detector Computed Tomography performed immediately after the procedure. The image quality of Cone Beam Computed Tomography has enough diagnostic value in differentiating between haemorrhage, embolic materials and the arteriovenous malformation nidus to facilitate physicians to decide for further management of the patient.

Value of cone beam computed tomography to evaluate complication of intracranial haemorrhage in endovascular treatment (evt): a case report.

2019 ◽  
pp. 16-18
Author(s):  
Norafida Bahari ◽  
NikAzuan Nik Ismail ◽  
Jegan Thanabalan ◽  
Ahmad Sobri Muda
Keyword(s):  
Computed Tomography ◽  
Arteriovenous Malformation ◽  
Endovascular Treatment ◽  
Cone Beam Computed Tomography ◽  
Diagnostic Value ◽  
Cone Beam ◽  
Brain Arteriovenous Malformation ◽  
Embolic Materials

In this article, we evaluate the effectiveness of Cone Beam Computed Tomography, through a case study, in assessing the complication of intracranial bleeding during an endovascular treatment of brain arteriovenous malformation when compared to Multislice-Detector Computed Tomography performed immediately after the procedure. The image quality of Cone Beam Computed Tomography has enough diagnostic value in differentiating between haemorrhage, embolic materials and the arteriovenous malformation nidus to facilitate physicians to decide for further management of the patient.

scholarly journals A case of juvenile form Pompe's disease manifested as chronic alveolar hypoventilation

1993 ◽  
Vol 8 (3) ◽  
pp. 221 ◽  
Author(s):  
Dong Gyu Kim ◽  
Kisuck Jung ◽  
Myung Koo Lee ◽  
In Gyu Hyun ◽  
Hwa Jung Lim ◽  
...  
Keyword(s):  
Juvenile Form ◽  
Pompe’S Disease ◽  
Pompe's Disease ◽  
Alveolar Hypoventilation

scholarly journals Nobiletin enhances the development and quality of bovine embryos in vitro during two key periods of embryonic genome activation

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Karina Cañón-Beltrán ◽  
Yulia N. Cajas ◽  
Serafín Peréz-Cerezales ◽  
Claudia L. V. Leal ◽  
Ekaitz Agirregoitia ◽  
...  
Keyword(s):  
Embryonic Development ◽  
Signaling Pathway ◽  
Akt Signaling ◽  
Mitochondrial Activity ◽  
Bovine Embryos ◽  
Akt Signaling Pathway ◽  
Cell Stage ◽  
Development In Vitro

AbstractIn vitro culture can alter the development and quality of bovine embryos. Therefore, we aimed to evaluate whether nobiletin supplementation during EGA improves embryonic development and blastocyst quality and if it affects PI3K/AKT signaling pathway. In vitro zygotes were cultured in SOF + 5% FCS (Control) or supplemented with 5, 10 or 25 µM nobiletin (Nob5, Nob10, Nob25) or with 0.03% dimethyl-sulfoxide (CDMSO) during minor (2 to 8-cell stage; MNEGA) or major (8 to 16-cell stage; MJEGA) EGA phase. Blastocyst yield on Day 8 was higher in Nob5 (42.7 ± 1.0%) and Nob10 (44.4 ± 1.3%) for MNEGA phase and in Nob10 (61.0 ± 0.8%) for MJEGA phase compared to other groups. Mitochondrial activity was higher and lipid content was reduced in blastocysts produced with nobiletin, irrespective of EGA phase. The mRNA abundance of CDK2, H3-3B, H3-3A, GPX1, NFE2L2 and PPARα transcripts was increased in 8-cells, 16-cells and blastocysts from nobiletin groups. Immunofluorescence analysis revealed immunoreactive proteins for p-AKT forms (Thr308 and Ser473) in bovine blastocysts produced with nobiletin. In conclusion, nobiletin supplementation during EGA has a positive effect on preimplantation bovine embryonic development in vitro and corroborates on the quality improvement of the produced blastocysts which could be modulated by the activation of AKT signaling pathway.

scholarly journals Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 998
Author(s):  
Rosario Licitra ◽  
Maria Marchese ◽  
Letizia Brogi ◽  
Baldassare Fronte ◽  
Letizia Pitto ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscular Dystrophy ◽  
Genomic Medicine ◽  
Neuromuscular Diseases ◽  
Dystrophin Gene ◽  
Neuromuscular Disorder ◽  
Heme Oxygenase 1 ◽  
Zebrafish Model ◽  
Screening Study

Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is an inherited neuromuscular disorder that causes loss of muscle mass and motor skills. In the era of genomic medicine, there is still no known cure for DMD. In clinical practice, there is a growing awareness of the possible importance of nutrition in neuromuscular diseases. This is mostly the result of patients’ or caregivers’ empirical reports of how active substances derived from food have led to improved muscle strength and, thus, better quality of life. In this report, we investigate several nutraceutical principles in the sapje strain of zebrafish, a validated model of DMD, in order to identify possible natural products that, if supplemented in the diet, might improve the quality of life of DMD patients. Gingerol, a constituent of fresh ginger, statistically increased the locomotion of mutant larvae and upregulated the expression of heme oxygenase 1, a target gene for therapy aimed at improving dystrophic symptoms. Although three other compounds showed a partial positive effect on locomotor and muscle structure phenotypes, our nutraceutical screening study lent preliminary support to the efficacy and safety only of gingerol. Gingerol could easily be proposed as a dietary supplement in DMD.

scholarly journals Evaluation of alpha-l-fucosidase for the diagnosis of hepatocellular carcinoma based on meta-analysis

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Lei Xi ◽  
Chunqing Yang
Keyword(s):  
Hepatocellular Carcinoma ◽  
Operating Characteristic ◽  
Meta Analysis ◽  
Area Under The Curve ◽  
Diagnostic Odds Ratio ◽  
Diagnostic Value ◽  
Receiver Operating Characteristic Curves ◽  
Sensitivity Specificity ◽  
Review Manager

AbstractObjectivesThe main aim of the present study was to assess the diagnostic value of alpha-l-fucosidase (AFU) for hepatocellular carcinoma (HCC).MethodsStudies that explored the diagnostic value of AFU in HCC were searched in EMBASE, SCI, and PUBMED. The sensitivity, specificity, and DOR about the accuracy of serum AFU in the diagnosis of HCC were pooled. The methodological quality of each article was evaluated with QUADAS-2 (quality assessment for studies of diagnostic accuracy 2). Receiver operating characteristic curves (ROC) analysis was performed. Statistical analysis was conducted by using Review Manager 5 and Open Meta-analyst.ResultsEighteen studies were selected in this study. The pooled estimates for AFU vs. α-fetoprotein (AFP) in the diagnosis of HCC in 18 studies were as follows: sensitivity of 0.7352 (0.6827, 0.7818) vs. 0.7501 (0.6725, 0.8144), and specificity of 0.7681 (0.6946, 0.8283) vs. 0.8208 (0.7586, 0.8697), diagnostic odds ratio (DOR) of 7.974(5.302, 11.993) vs. 13.401 (8.359, 21.483), area under the curve (AUC) of 0.7968 vs. 0.8451, respectively.ConclusionsAFU is comparable to AFP for the diagnosis of HCC.

Sign in / Sign up

Export Citation Format

Share Document