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1.
Journal of Public Health and Preventive Medicine ; (6): 16-20, 2023.
Article in Chinese | WPRIM | ID: wpr-979152

ABSTRACT

Objective To explore PM2.5 concentration modeling and prediction based on the monthly average concentrations of PM2.5 in Shanghai since 2015, and to provide new ideas about PM2.5 prediction methods. Methods The seasonal factors were introduced into the Grey Model (GM). GM(1,1) model modified with seasonal factors was established and compared with seasonal autoregressive integrated moving average model (ARIMA) model. The data of 2015-2021 was used for modeling and prediction, and the data from January to October in 2022 was used as a validation set to evaluate the prediction effectiveness. The monthly average PM2.5 concentrations in Shanghai from November to December in 2022 were predicted. Results Seasonal ARIMA model showed RMSE=4.02 and MAPE=15.50% in the validation set, while GM(1,1) model modified with seasonal factors showed RMSE=3.30 and MAPE=11.59%. GM(1,1) model modified with seasonal factors predicted the monthly average PM2.5 concentrations in Shanghai from November to December in 2022 to be 24.99 and 34.83μg/m3, respectively. Conclusion The prediction effect of GM(1,1) model modified with seasonal factors has better predictive performance than seasonal ARIMA model. The grey prediction model modified with seasonal factors can be considered when predicting seasonal time series such as the concentration of PM2.5.

2.
Journal of Leukemia & Lymphoma ; (12): 716-721, 2022.
Article in Chinese | WPRIM | ID: wpr-988936

ABSTRACT

Objective:To investigate the characteristics of death, tendency and the prediction of Shenzhen residents with adult hematological malignancies from 2017 to 2020.Methods:The surveillance data of hematological malignancies from 2017 to 2020 and the demographic data in Shenzhen were collected from Shenzhen death cause monitoring system and Shenzhen Center for Disease Control and Prevention, respectively. The data of the 7th national demographic data in 2020 were set as the standardized population data. Crude mortality rate (CMR), standardized mortality rate (SMR) and annual percentage change (APC) of mortality were calculated by using Joinpoint software. The grey model GM(1,1) was built to predict the mortality of adult hematological malignancies in Shenzhen between 2021 and 2025.Results:From 2017 to 2022, the male CMR of hematological malignancies was 1.15/100 000 to 1.85/100 000, and the SMR was 2.24/100 000 to 2.44/100 000; the female CMR of hematological malignancies was 0.81/100 000 to 1.75/100 000, and the SMR was 1.67/100 000 to 1.90/100 000. There were no statistically significant differences in the annual CMR and SMR between male and female hematological malignancies (all P > 0.05), and the annual change trend of CMR and SMR was not significant. The APC of male and female CMR was 27.28% and 12.70%, respectively (χ 2 = 0.01, P = 0.939); the APC of male and female SMR was 1.12% and 4.77%, respectively (χ 2 = 0.91, P = 0.318). The death causes of hematological malignancies were successively acute myeloid leukemia (AML), lymphoma, multiple myeloma, acute lymphoblastic leukemia (ALL), myelodysplastic syndrome (MDS) plus chronic myelomonocytic leukemia (CMML), chronic lymphoblastic leukemia (CLL) plus chronic myelogenous leukemia (CML). The CMR of patients with hematological malignancies aged 18-40 years was low, the CMR began to rise in patients above 40 years, especially the rapid increase at the age of 60 years, reaching the peak at the age of 80 years or above. The shortest median time of all kinds of hematological malignancies from the onset of disease to the death was found in AML group (8 months, range 0.1-168 months), the longest time was in CLL+CML group (24 months, range 0.1-300 months). Infection was the most direct cause of death, followed by single organ failure. GM(1,1) model had the better predictive effects and the total SMR would increase from 2021 to 2025 (4.52/100 000, 4.76/100 000, 5.01/100 000, 5.28/100 000 and 5.57/100 000, respectively). Conclusions:The incidence of hematological malignancies in Shenzhen residents over 40 years old is on the increase. The trend of adult hematological malignancies in Shenzhen will rise predicted by GM (1,1) grey model.

3.
Clinics ; 77: 100006, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1375180

ABSTRACT

ABSTRACT Objectives: To evaluate the functional and immunohistochemical effects of ganglioside GM1 and erythropoietin following experimental spinal cord injury. Methods: Thirty-two male BALB/c mice were subjected to experimental spinal cord injury using the NYU Impactor device and were randomly divided into the following groups: GM1 group, receiving standard ganglioside GM1 (30 mg/kg); erythropoietin group, receiving erythropoietin (1000 IU/kg); combination group, receiving both drugs; and control group, receiving saline (0.9%). Animals were evaluated according to the Basso Mouse Scale (BMS) and Hindlimb Mouse Function Score (MFS). After euthanasia, the immunohistochemistry of the medullary tissue of mice was analyzed. All animals received intraperitoneal treatment. Results: The GM1 group had higher BMS and MFS scores at the end of the experiment when compared to all other groups. The combination group had higher BMS and MFS scores than the erythropoietin and control groups. The erythropoietin group had higher BMS and MFS scores than the control group. Immunohistochemical tissue analysis showed a significant difference among groups. There was a significant increase in myelinated axons and in the myelinated axon length in the erythropoietin group when compared to the other intervention groups (p < 0.01). Conclusion: Erythropoietin and GM1 have therapeutic effects on axonal regeneration in mice subjected to experimental spinal cord injury, and administration of GM1 alone had the highest scores on the BMS and MFS scales.

4.
Chinese Journal of Applied Clinical Pediatrics ; (24): 304-307, 2022.
Article in Chinese | WPRIM | ID: wpr-930425

ABSTRACT

Objective:To analyze clinical and genetic characteristics of 2 cases with infantile GM1 gang-liosidosis.Methods:Clinical data of 2 cases with infantile GM1 gangliosidosis in the Department of Rehabilitation, Tianjin Children′s Hospital from May 2019 to June 2019 were retrospectively analyzed.Results:The major manifestations of 2 cases included infantile onset, psychomotor retardation and retrogression, blundering face, sensitive to sound, gingival hyperplasia, abnormal eruption of teeth, hypotonia or dystonia, bone dysplasia, and skin abnormalities.Case 1 had hepatosplenomegaly, corneal opacity and multiple joint contractures.Case 2 had fundus cherry erythema and epileptic seizure.Biochemical results showed that alkaline phosphatase and aspartate transaminase significantly increased, and alanine transaminase was normal.Cranial nuclear magnetic imaging showed poor myelin sheath in the white matter in both cases, and case 1 also had symmetric signal changes in the thalamus.Whole exon sequencing showed that case 1 had deletion mutation of 3p22.3 (33137821-33138587)×1 in the exon of GLB1 gene, which has not been previously reported. Conclusions:The clinical spectrum of infantile GM1 gangliosidosis is broad.Both cases in this study have skin abnormalities, which are relatively rare.Multiple joint contractures in case 1 have not been previously reported, and considered as a new phenotype.The deletion mutation of 3p22.3 (33137821-33138587)×1 in the exon of GLB1 gene in case 1 is a newly detected mutation, which expands the genetic profile of infantile GM1 gangliosidosis.

5.
J. Bras. Patol. Med. Lab. (Online) ; 57: e3102021, 2021. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1350891

ABSTRACT

RESUMEN La gangliosidosis GM1 es un trastorno lisosomal caracterizada por la acumulación de gangliósido GM1 (glucoesfingolípido) en el sistema nervioso central (SNC) y visceral, debido a la deficiencia de la enzima beta-galactosidase (hidrolasa lisosomal). Afecta principalmente al SNC y las vísceras y produce importantes anomalías esqueléticas, que a menudo ocurren con la presencia de linfocitos vacuolados en la muestra de la sangre periférica o médula ósea. Tiene tres formas de presentación, lo que dificulta aún más su identificación debido al amplio espectro clínico. El presente estudio tiene como objetivo describir un caso de gangliosidosis GM1 en un paciente masculino, nacido a las 38 semanas. Hasta el momento, no existe un tratamiento efectivo para la gangliosidosis GM1, es decir, el portador de la enfermedad solo recibe medidas sintomáticas y paliativas. Por tanto, el diagnóstico precoz de la enfermedad es de suma importancia, ya que su única forma de prevención, actualmente, es a través del consejo genético.

6.
Journal of Xi'an Jiaotong University(Medical Sciences) ; (6): 138-143, 2019.
Article in Chinese | WPRIM | ID: wpr-844080

ABSTRACT

Objective: To investigate the application of gray model GM(1, 1) in predicting the incidence of birth defects at different levels and the effect of data volatility on the prediction outcome. Methods: Based on the monitoring data of birth defects in Xi'an from October 2009 to September 2016, the GM(1, 1) was used to predict the overall incidence of birth defects and incidence of five main birth defects at three levels (month, quarter, and year). We compared the fitting accuracy of different level prediction models. Results: The average relative error for yearly prediction of overall birth defect was 4.6%, and the mean square deviation was 0.259, which might suggest better prediction. Quarterly forecasting results were almost qualified and the average relative error was 10.2%. Monthly prediction was poor with an average relative error of 17.5%. With the extension of the forecast period, the grey model prediction results of the top five birth defects (congenital heart disease, cleft lip and palate, neural tube defects, multiple fingers, and congenital hydrocephalus) in Xi'an all increased, and the fitting accuracy gradually improved. The gray scale of the year was the best. Conclusion: The prediction results of the gray model may be related to the volatility of the data. It may be suitable for predicting the incidence of birth defects by the year.

7.
Chinese Journal of Disease Control & Prevention ; (12): 977-980,1007, 2019.
Article in Chinese | WPRIM | ID: wpr-779449

ABSTRACT

Objective To study the predictive effect of model [GM(1,1)] in China’s maternal and child health indicators, and to predict the future maternal and child health indicators in a short-term, and provide a scientific basis for the gradual improvement of maternal and child health care services in China. Methods The maternal mortality rate (MMR), neonatal mortality rate (NMR), infant mortality rate (IMR) and under-five mortality rate (U5MR) were collected from 2008 to 2017 in China. Models were established and MATLAB 2018b software was used for predictive analysis. Results The prediction models of maternal mortality rate, neonatal mortality rate, infant mortality rate and under-five mortality rate were as follows: x

8.
Journal of Clinical Pediatrics ; (12): 131-133, 2018.
Article in Chinese | WPRIM | ID: wpr-694652

ABSTRACT

Objective To investigate clinical characteristics and treatment of acute myelitis in children. Methods Clinical data and prognosis of two cases of pediatric acute myelitis with positive serum monosialoganglioside (GM1) antibodies were analyzed, and related literatures were reviewed. Results Two cases had clinical symptoms and MRI change of myelitis with positive serum GM1-IgM antibody and thyroid antibody. Two cases had positive serum Helicobacter pylori IgG antibody and one case has positive Mycoplasma pneumoniae IgM antibody.After treated with high doses of glucocorticoid and gamma-globulin, two cases were discharged as symptoms improved. After discharged, treatment with oral prednisone and rehabilitation were continued. One case recovered completely while another could stand alone by supporting after 3 months follow-up. Conclusion Immunologic injury played an important role in pathogenesis of acute pediatric myelitis with serum positive GM1 antibodies, which had better treatment outcome and prognosis. This type of myelitis may have intestinal Helicobacter pylori infection.

9.
Chinese Journal of Health Statistics ; (6): 247-249, 2017.
Article in Chinese | WPRIM | ID: wpr-610433

ABSTRACT

Objective To explore the trend of mortality and years of life lost due to Esophageal Cancer in residents in Tieling,so as to provide the basis data on preventing Esophageal cancer in Tieling.Methods The data of residents in Tieling dying of Esophageal cancer from 2007 to 2015 was collected and cleared up to calculate the evaluation indexes including the mortality rate,the average percentage change of mortality rate.GM(1,1) model was used to predict the future mortality.Results From 2007 to 2015,the Average Esophageal cancer Mortality Rate of in residents in Tieling was 5.26 per 100000 persons,and especially 1.95% raised a year.The Mortality Rate would increase from 2016 to 2019.Conclusion Tieling Esophageal Cancer mortality rate is on the rise,especially for elder men more than 60.So that the proper prevention measures should be car ried and strengthened.

10.
Arch. pediatr. Urug ; 87(4): 342-346, dic. 2016. ilus
Article in Spanish | LILACS | ID: biblio-827820

ABSTRACT

Introducción: la melanocitosis dérmica incluye un espectro de lesiones de piel que abarca la mancha mongólica, entre otras lesiones. Las enfermedades lisosomales son afecciones de base genética que se caracterizan por la acumulación de metabolitos insolubles parciamente degradados en los compartimentos lisosomales, debido a una determinada deficiencia enzimática. Las deficiencias de b-galactosidasa y de a-L-iduronidasa provocan la gangliosidosis GM1 y la mucopolisacaridosis tipo I respectivamente, ambas presentando similitudes en su presentación clínica. La asociación de la melanocitosis dérmica con las enfermedades lisosomales es poco común y mal entendida. Objetivo: reportar dos pacientes con esta rara asociación. Casos clínicos: dos varones de 3 y 9 meses sin antecedentes prenatales ni perinatales a destacar y antecedentes de infecciones respiratorias reiteradas. Se presentaron con retraso del desarrollo, hipotonía central y trastorno deglutorio. Al examen se constató hepatomegalia, fascies tosca y melanosis dérmica extensa. Los estudios permitieron diagnosticar al paciente de 3 meses mucopolisacaridosis Tipo I y al de 9 meses gangliosidosis GM1. Discusión: no se conoce exactamente la causa de esta asociación. Se plantea que sería el resultado de la acumulación de gangliósidos y heparán sulfato que estimularían al receptor del factor de crecimiento neuronal de tipo tirosinquinasa, deteniendo la migración de los melanocitos en la dermis. Por lo tanto la melanosis dérmica aberrante, en el contexto clínico adecuado, puede ser un signo que facilite el diagnóstico de una enfermedad lisosomal subyacente.


Introduction: dermal melanocytosis includes a spectrum of skin lesions, mongolian spots being one of them. Lysosomal storage diseases are characterized by the accumulation of partially degraded insoluble metabolites in lysosomal compartments due to enzyme deficiency. Deficiency in b-galactosidosisis is the cause of GM1 gangliosidosis and deficiency in a-L-iduronidasa of mucopolysaccharidosis type I. Both have similar clinical presentations. Association of dermal melanocytosis and lysosomal storage diseases is uncommon and misunderstood. Objective: to report the case of two patients with this rare association. Clinical cases: the study presents two boys, 3 and 9 months old, with no remarkable family, pregnancy or delivery history. Both had repeated respiratory tract infections. They presented with developmental delay, central hypotonia and swallowing disorder. Upon clinical examination they showed hepatomegaly, coarse facies and extensive dermal melanocytosis. They were diagnosed with GM1 gangliosidosis and mucopolysaccharidosis type I. Discussion: the cause of this association is not well known. It is hypothesized that accumulation of gangliosides and heparan sulfates stimulates tyrosine-kinase neuronal growth factor receptor, stopping dermal melanocytosis migration. Therefore extensive dermal melanocytosis, in an appropriate clinical setting, may contribute to diagnosing lysosomal storage diseases.


Subject(s)
Humans , Male , Infant , Skin Neoplasms , Lysosomal Storage Diseases/complications , Gangliosidosis, GM1/diagnosis , Mucopolysaccharidosis I/diagnosis , Mongolian Spot/etiology
11.
Chinese Journal of Applied Clinical Pediatrics ; (24): 884-886, 2016.
Article in Chinese | WPRIM | ID: wpr-497781

ABSTRACT

Guillain-Barré syndrome(GBS) has clinical characteristics:flaccid,symmetrical,ascending paralysis.Cranial nerves and respiratory muscle related,albuminocytologic dissociation in cerebrospinal fluid,and electrophysiological changes.GBS was believed to be an autoimmune perineuropathy.Recently,there were more and more reports about GBS spectrum disorders or GBS variant correlated with anti-GQ1b antibody or anti-GM1 IgG antibody et al.The GBS Classification Group presented the new clinical criteria in 2014,to enable neurologists and non-neurologists to diagnose GBS and all its variants using a simple yet all-inclusive classification system.

12.
Journal of Modern Laboratory Medicine ; (4): 117-120, 2016.
Article in Chinese | WPRIM | ID: wpr-493764

ABSTRACT

Objective To explore the application of dynamic grey GM (1,1)modeling,analyse and forecast varieties of blood collection volume for central blood bank of Chengde in Hebei Province,under normal dynamic development trends,and make quantitative predictions according to the model’s application.Methods According to the blood collection data of whole blood,single white blood platelet (person-portion)in the blood Bank of Chengde city fom January 2004 to December 2013 (400 ml/people),and in order to test predictive ability of the model by comparing the forecast value with the actual value in 2013.At the same time,analysed blood collection value in 2014 to 2016.Results The above two types of blood collection number grey GM (1,1)model Y (t)posterior difference (standard deviation)C<0.35,small error probability P was 1.Ac-curacy was excellent,good for prediction of blood collection.Conclusion These two categories of blood collecting species in Central Blood Bank of Chengde increased gradually.Grey model GM (1,1)as a new prediction model can forecast reasonably clinical blood collection volume under normal lynamic development trends.

13.
J. inborn errors metab. screen ; 3: e140011, 2015. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1090867

ABSTRACT

Abstract β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS). We aim to document the β-galactosidase deficiency in Colombia. We evaluated leukocytes from 1492 healthy Colombian individuals and 923 patients, referred between 2005 and August 2014. Dried blood spot (DBS) samples from the same number of patients were evaluated. β-Galactosidase was measured with 4-methylumbelliferyl-β-d-galactoside. As a control enzyme, the total hexosaminidase activity was also evaluated. We identified 14 patients with GM1 gangliosidosis, 5 patients with Morquio B, and 1 patient with I-cell disease. We could establish a reference value for Bgal in Colombian leukocyte samples. GM1 gangliosidosis is the main pathology associated with a direct deficiency of BGal. The high number of patients found with MPS IVB indicates that there are patients who could be misdiagnosed due to an unawareness of the disease.

14.
Rev. cuba. pediatr ; 86(1): 103-107, abr.-jun. 2014.
Article in Spanish | LILACS | ID: lil-709199

ABSTRACT

La gangliosidosis generalizada tipo 1 es una enfermedad de acúmulo lisosomal producida por mutaciones en el gen de la enzima b-galactosidasa, caracterizada fundamentalmente por toma del sistema nervioso central, la visceromegalia, disostosis ósea y dimorfismo facial. Se presenta el caso de un lactante varón, hijo de padres no consanguíneos, de 5 meses de edad, Apgar 6/8 debido a hipoxia neonatal, con historia de múltiples ingresos por enfermedad diarreica e infecciones respiratorias. Es remitido a la Consulta de Genética Clínica por retardo del desarrollo psicomotor, macrocráneo y hepatomegalia, además de máculas hipercrómicas en piel. En el examen físico se encontraron evidencias de una posible afectación por enfermedad metabólica lisosomal. Entre las enfermedades a descartar estaban la galactosialidosis, de características clínicas similares, y la enfermedad de Morquio, con diferente presentación clínica pero idéntico defecto enzimático


Generalized or GM 1 gangliosidosis is a lysosomal storage disease caused by mutations in the enzyme b-galactosidase gene, mainly characterized by affecting the central nervous system, visceromegalia, osseous dysostosis and facial dimorphism. This is the case of a male nursling born to non-consanguineous parents, 5 months of age, Apgar index of 6/8 due to neonatal hypoxia, with a history of several admissions to hospital because of diarrheal disease and respiratory infections. He was referred to the clinical genetic service since he presented with retarded psychomotor development, macrocrania and hepatomegalia, in addition to hyperchromic skin spots. The physical exam found evidence of possible effects by lysosomal metabolic disease. Among the diseases to be ruled out for the diagnosis were galactosialidosis of similar clinical characteristics and Morquio B disease with different clinical presentation but identical enzymatic deficiency


Subject(s)
Humans , Male , Infant , Lysosomal Storage Diseases/complications , Gangliosidosis, GM1 , beta-Galactosidase/genetics , Case Reports
15.
Chinese Journal of Medical Science Research Management ; (4): 392-394,403, 2014.
Article in Chinese | WPRIM | ID: wpr-599479

ABSTRACT

Objective Taking nurses relative number prediction for example,this paper discussed the application of Information Renewal GM (1,1)—Linear Regression Coupling Model in the prediction of health personnel resources,so as to provide methodology reference for forecasting health personnel.Methods The information renewal GM(1,1) and linear regression coupling model was built and explored to predict and fit analyzing.Results The error between the predictive value that calculated by information renewal GM(1,1) and the actual value was small,and the prediction accuracy of coupling model was high.Conclusion The coupling model not only remedied the defect that grey system model did not including linear factors,but also improved the fact that linear forecasting model could not express exponential growth.Therefore the coupling model was reasonable and feasible.

16.
Journal of the Korean Neurological Association ; : 212-214, 2014.
Article in Korean | WPRIM | ID: wpr-208238

ABSTRACT

No abstract available.


Subject(s)
Ataxia , Immunoglobulin G , Ophthalmoplegia
17.
Journal of the Korean Neurological Association ; : 254-257, 2013.
Article in Korean | WPRIM | ID: wpr-84942

ABSTRACT

A 57-year-old man developed motor weakness and paresthesia after acute enteritis. Nerve conduction study revealed decreased compound muscle action potentials in median nerves and conduction blocks in ulnar nerves. Serum IgG anti-GM1 antibody was positive. Conduction blocks rapidly disappeared through sequential studies, which are defined as reversible conduction failure (RCF). This study represents anti-GM1 antibody-associated acute motor conduction block neuropathy based on RCF. We underline that serial nerve conduction studies might be required for characterization of clinical and electrophysiological features.


Subject(s)
Humans , Middle Aged , Action Potentials , Enteritis , Immunoglobulin G , Median Nerve , Muscles , Neural Conduction , Paresthesia , Ulnar Nerve
18.
Braz. j. microbiol ; 43(3): 969-980, July-Sept. 2012. graf, tab
Article in English | LILACS | ID: lil-656661

ABSTRACT

Enterotoxigenic Escherichia coli (ETEC) strains are leading causes of childhood diarrhea in developing countries. Adhesion is the first step in pathogenesis of ETEC infections and ETEC pili designated colonization factor antigens (CFAs) are believed to be important in the biofim formation, colonization and host cell adhesions. As a first step, we have determined the biofilm capability of ETEC expressing various types of pili (CFA/I, CfaE-R181A mutant/ CfaE tip mutant, CFA/II and CS2). Further, enzyme-linked immunosorbent assay (ELISA) assay were developed to compare the binding specificity of CFA/I, CFA/II (CS1 - CS3) and CS2 of ETEC, using extracted pili and piliated bacteria. CFA/II strain (E24377a) as well as extracted pili exhibited significantly higher binding both in biofilm and ELISA assays compared to non piliated wild type E24377a, CFA/I and CS2 strains. This indicates that co-expression of two or more CS2 in same strain is more efficient in increasing adherence. Significant decrease in binding specificity of DH5αF'lacIq/∆cotD (CS2) strain and MC4100/pEU2124 (CfaE-R181A) mutant strain indicated the important contribution of tip proteins in adherence assays. However, CS2 tip mutant strain (DH5αF'lacIq/pEU5881) showed that this specific residue may not be important as adhesions in these strains. In summary, our data suggest that pili, their minor subunits are important for biofilm formation and adherence mechanisms. Overall, the functional reactivity of strains co expressing various antigens, particularly minor subunit antigen observed in this study suggest that fewer antibodies may be required to elicit immunity to ETEC expressing a wider array of related pili.


Subject(s)
Child , Adhesins, Bacterial , Diarrhea, Infantile , Escherichia coli Infections , Enterotoxigenic Escherichia coli/enzymology , Enterotoxigenic Escherichia coli/isolation & purification , Immunoenzyme Techniques , Methods , Sensitivity and Specificity , Virulence
19.
Acta neurol. colomb ; 28(1): 37-41, ene.-mar. 2012. ilus
Article in Spanish | LILACS | ID: lil-659307

ABSTRACT

La gangliosidosis GM1 es ocasionada por deficiencia en la actividad catalítica de la enzima lisosomal beta-galacto-sidasa, dando origen a la acumulación del esfingolípido conocido como gangliósido GM1. La enfermedad se manifiesta en forma generalizada, con trastornos neurológicos y visceromegalias. Reportamos un caso de presentación juvenil, masculino de 5 años con historia de pérdida de hitos del desarrollo motor, cognitivo y lenguaje en forma progresiva. Se diagnosticó gangliosidosis GM1 juvenil o tipo II luego del análisis de los estudios de laboratorio, neuroimágen y baja actividad enzimática de la beta-galactosidasa.


Gangliosidosis GM1 is due a deficiency of lysosomal acid beta-galactosidase which gives sphingolipids (GM1) accumulation. It has systemic compromise, mainly neurologic disease and organomegaly. Here, We report a 5-years old child with a juvenile presentation or type II, which is characterized by regression of neurodevelopment and progression to neurodegeneration. Based in his laboratory, neuroimaging and low enzymatic activity of beta-galactosidase a diagnosis of gangliosidoses GM1 was made.

20.
Laboratory Animal Research ; : 255-263, 2012.
Article in English | WPRIM | ID: wpr-192523

ABSTRACT

Gangliosides are ubiquitous components of the membranes of mammalian cells that are thought to play important roles in various cell functions such as cell-cell interaction, cell adhesion, cell differentiation, growth control, and signaling. However, the role that gangliosides play in the immune rejection response after xenotransplantation is not yet clearly understood. In this study, the regulatory effects of human leukocytes on ganglioside expression in primary cultured micro-pig aortic endothelial cells (PAECs) were investigated. To determine the impact of human leukocytes on the expression of gangliosides in PAECs, we performed high-performance thin layer chromatography (HPTLC) in PAECs incubated with FBS, FBS containing human leukocytes, human serum containing human leukocytes, and FBS containing TNF-alpha. Both HPTLC and immunohistochemistry analyses revealed that PAECs incubated with FBS predominantly express the gangliosides GM3, GM1, and GD3. However, the expression of GM1 significantly decreased in PAECs incubated for 5 h with TNF-alpha (10 ng/mL), 10% human serum containing human leukocytes, and 10% FBS containing human leukocytes. Taken together, these results suggest that human leukocytes induced changes in the expression profile of ganglioside GM1 similar to those seen upon treatment of PAECs with TNF-alpha. This finding may be relevant for designing future therapeutic strategies intended to prolong xenograft survival.


Subject(s)
Humans , Cell Adhesion , Cell Communication , Chromatography, Thin Layer , Endothelial Cells , Gangliosides , Immunohistochemistry , Leukocytes , Membranes , Rejection, Psychology , Transplantation, Heterologous , Tumor Necrosis Factor-alpha
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