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1.
Pediatr Int ; 66(1): e15770, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38641933

RESUMO

BACKGROUND: WAS gene mutational analysis is crucial to establish a definite diagnosis of Wiskott-Aldrich syndrome (WAS). Data on the genetic background of WAS in Vietnamese patients have not been reported. METHODS: We recruited 97 male, unrelated patients with WAS and analyzed WAS gene mutation using Sanger sequencing technology. RESULTS: We identified 36 distinct hemizygous pathogenic mutations, with 17 novel variants, from 38 patients in the entire cohort (39.2%). The mutational spectrum included 14 missense, 12 indel, five nonsense, four splicing, and one non-stop mutations. Most mutations appear only once, with the exception of c.37C>T (p.R13X) and c.374G>A (p.G125E) each of which occurs twice in unrelated patients. CONCLUSION: Our data enrich the mutational spectrum of the WAS gene and are crucial for understanding the genetic background of WAS and for supporting genetic counseling.


Assuntos
Síndrome de Wiskott-Aldrich , Humanos , Masculino , Análise Mutacional de DNA , Mutação , Vietnã , Síndrome de Wiskott-Aldrich/diagnóstico , Síndrome de Wiskott-Aldrich/genética , Proteína da Síndrome de Wiskott-Aldrich/genética
2.
Glob Pediatr Health ; 10: 2333794X231216556, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38073663

RESUMO

Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome and Stevens-Johnson Syndrome (SJS) are severe cutaneous adverse reactions to drugs. Those reactions which are rare in children can be especially severe and challenging to diagnose and manage. Herein we present a 59-month-old male who presented with a rash, fever, and multiple organ dysfunction initiation of Phenobarbital for epilepsy. Diagnosis of ovelaping SJS and DRESS syndrome had been made based on clinical manifestations accompanied with skin biopsy according to RegisSCAR diagnostic criteria. A therapy with intravenous immune globulin (IVIG), corticosteroids and supportive care was given successfully for the patient. This case underscored the significance of promptly and effectively recognizing and managing these intricate reactions.

4.
Int J Lab Hematol ; 43(6): 1524-1530, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34339548

RESUMO

INTRODUCTION: The prevalence of gene mutations in hemophagocytic lymphohistiocytosis (HLH) varied between studies. Thus far, data on the genetic background of HLH in Vietnamese patients are limited. METHODS: We recruited 94 HLH patients and analyzed for the 4 genes using Sanger sequencing technology. RESULTS: Pathogenic variants were observed in 36 (38.29%) patients, including 27 in UNC13D, 5 in STXBP2, 3 in PRF1, and 2 in STX11 (one patient with digenic variants in both UNC13D and STX11). Monoallelic variants accounted for 77.8% of all cases with mutation. A total of 23 different types of pathogenic variants were documented in the 4 genes tested, including 15 in UNC13D, 3 in PRF1, 3 in STXBP2, and 2 in STX11. Interestingly, the novel splicing variant c.3151G>A in UNC13D was recurrently identified in 8 unrelated patients. CONCLUSION: Vietnamese patients with HLH showed a distinct genetic variant spectrum, in which UNC13D is the predominant genetic lesion associated with HLH.


Assuntos
Biomarcadores , Linfo-Histiocitose Hemofagocítica/genética , Proteínas de Membrana/genética , Proteínas Munc18/genética , Mutação , Perforina/genética , Proteínas Qa-SNARE/genética , Alelos , Processamento Alternativo , Análise Mutacional de DNA , Estudos de Associação Genética , Predisposição Genética para Doença , Testes Genéticos , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Vietnã
5.
Case Rep Nephrol Dial ; 11(2): 124-128, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34250029

RESUMO

Wilms' tumor is the most common malignant kidney tumor found in children. The Horseshoe kidney is the most common renal fusion malformation. However, Wilms' tumor is rarely identified in horseshoe kidney patients. Multimodal treatments in Wilms' tumor can play important roles in increasing the survival rate. In this study, we report the case of a 6-year-old boy in whom a Wilms' tumor was identified in a horseshoe kidney. The tumor was successfully treated with preoperative chemotherapy, followed by surgical resection.

6.
Radiol Case Rep ; 16(6): 1352-1354, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33897928

RESUMO

Inflammatory myofibroblastic tumor (IMT) is an uncommon neoplasm that rarely arises in the genitourinary system. IMTs in the vulva in infants are extremely rare in the literature. The tumor consists of myofibroblastic spindle cells accompanied by inflammatory cell infiltration. In this article, we aimed to describe the case of IMT in the vulva. A newborn girl presented with a mass in the vulva detected in the prenatal period. The patient was treated with surgery and chemotherapy. Follow-up 8 months after surgery showed no signs of recurrence. In conclusion, IMT has a variable clinical presentation, surgery is the optimal approach, but in cases without complete resection, chemotherapy is essential.

7.
Pharmacogenomics ; 22(1): 1-12, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33356553

RESUMO

Aims: To determine genetic susceptibility markers for carbamazepine (CBZ) and allopurinol-induced severe cutaneous adverse reactions (SCARs) in Vietnamese. Methods: A case-control study was performed involving 122 patients with CBZ or allopurinol-induced SCARs and 120 drug tolerant controls. Results:HLA-B*58:01 was strongly associated with allopurinol-induced SCARs and strongly correlated with SNP rs9263726. HLA-B*15:02 was associated with CBZ-induced Stevens-Johnson syndrome/toxic epidermal necrolysis but not with drug-induced hypersensitivity syndrome/drug rash with eosinophilia and systemic symptoms. No association was found between HLA-A*31:01 and CBZ-induced SCARs. HLA-B*58:01 and rs3909184 allele A with renal insufficiency were shown to increase the risk of allopurinol-induced SCARs. Conclusion:HLA-B*58:01 and HLA-B*15:02 confer susceptibility to allopurinol-induced SCARs and CBZ-induced SJS/TEN in Vietnamese. SNP rs9263726 can be used as a surrogate marker in identifying HLA-B*58:01.


Assuntos
Alopurinol/efeitos adversos , Povo Asiático/genética , Carbamazepina/efeitos adversos , Predisposição Genética para Doença/genética , Antígenos HLA-B/genética , Síndrome de Stevens-Johnson/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticonvulsivantes/efeitos adversos , Estudos de Casos e Controles , Feminino , Previsões , Predisposição Genética para Doença/epidemiologia , Supressores da Gota/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença , Síndrome de Stevens-Johnson/diagnóstico , Síndrome de Stevens-Johnson/epidemiologia , Vietnã/epidemiologia , Adulto Jovem
8.
Pharmacogenomics ; 21(14): 985-994, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32896208

RESUMO

Aim: To examine gene expression in different clinical phenotypes of allopurinol-induced severe cutaneous adverse reactions (SCARs). Materials & methods: Gene expression profiling was performed using microarray on 11 RNA samples (four controls, three hypersensitivity syndrome/drug rash with eosinophilia and systemic symptoms, four Stevens-Johnson syndrome/toxic epidermal necrolysis) followed by quantitative real-time PCR in a total of 11 SCARs patients and 11 controls. Results: The biological pathways which were significantly enriched in differentially expressed genes in Stevens-Johnson syndrome/toxic epidermal necrolysis compared with hypersensitivity syndrome/drug rash with eosinophilia and systemic symptoms patients included; cell surface interactions at the vascular wall, immunoregulatory interactions at the immunological synapse and MyD88 signaling pathways. Overexpression of miR146a occurred in allopurinol-tolerant HLA-B*58:01 carriers. Conclusion: Biological pathways are identified which appear to be implicated in determining clinical phenotypes in allopurinol-induced SCARs. Overexpression of miR146a is potentially important for allopurinol tolerance in HLA-B*58:01 carriers.


Assuntos
Alopurinol/efeitos adversos , Povo Asiático/genética , Toxidermias/genética , Expressão Gênica/genética , Pele/efeitos dos fármacos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Anticonvulsivantes/efeitos adversos , Exantema/induzido quimicamente , Exantema/genética , Feminino , Perfilação da Expressão Gênica/métodos , Supressores da Gota/efeitos adversos , Antígenos HLA-B/genética , Humanos , Masculino , Pessoa de Meia-Idade , Transdução de Sinais/genética , Síndrome de Stevens-Johnson/genética
9.
Gut ; 65(6): 1015-23, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-25800783

RESUMO

OBJECTIVE: In HCV infected individuals graft infection occurs shortly after orthotopic liver transplantation (OLT). We aimed to describe the composition of the inflammatory response at this time, how it affects the HCV replication cycle and identify novel proviral and antiviral factors. DESIGN: We used a Luminex assay to quantify 50 inflammatory mediators in sera before and shortly after OLT. In vitro grown HCV based on the JFH-1 isolate were used to characterise the effects of patient sera and individual mediators on HCV. RESULTS: Although the mediator composition is highly variable between individuals, sera drawn immediately post-OLT significantly enhance HCV infectivity compared with control sera from before OLT in about half of the cases. Among 27 non-interferon inflammatory mediators fibroblast growth factor (FGF)-2 stood out as it enhanced HCV RNA replication and release of infectious particles. The effect was concentration-dependent and detectable in dividing and non-dividing cells. Moreover, pharmacological inhibition of FGF-2 receptor signalling abrogated the enhancing effect of FGF-2 and inhibited HCV replication in the absence of serum FGF-2 suggesting that HCV replication is dependent on basal activation of the FGF-2 triggered signalling pathway. Finally, in individuals with chronic HCV infection with high viral load, serum FGF-2 was significantly higher compared with those with low viral load. CONCLUSIONS: Although no single mediator may account for this effect, serum shortly post-OLT enhances HCV infection. FGF-2 is a novel endogenous driver of HCV replication and a potential therapeutic target.


Assuntos
Fator 2 de Crescimento de Fibroblastos/sangue , Hepacivirus/isolamento & purificação , Hepatite C/sangue , Transplante de Fígado , Adulto , Biomarcadores/sangue , Proteína C-Reativa/metabolismo , Estudos de Casos e Controles , Quimiocinas/sangue , Feminino , Rejeição de Enxerto , Hepatite C/diagnóstico , Hepatite C/prevenção & controle , Hepatite C Crônica/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Estudos Retrospectivos
10.
Gastroenterology ; 143(2): 439-47.e1, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22580540

RESUMO

BACKGROUND & AIMS: Hepatitis C virus (HCV) uses several host factors to infect and replicate in human hepatocytes. Cyclophilin A (CypA) is required for viral replication, and CypA inhibitors are in development. We investigated the effects of nonsynonymous single nucleotide polymorphisms (SNPs) in the region of peptidyl-prolyl isomerase A (PPIA) that encodes CypA on HCV infection and replication of human hepatocytes. METHODS: We used a combination of virologic, biochemical, and genetic approaches to investigate the effects of PPIA variants on HCV replication in cultured Huh-7.5 cells. We reduced levels of CypA in these cells using small hairpin RNAs (shRNAs). RESULTS: Using shRNAs, we showed that CypA was required for replication of HCV in Huh-7.5 cells and identified 3 SNPs in PPIA that protected cells from HCV entry or replication. Levels of HCV RNA were reduced 3-4 log in cells homozygous for the variant alleles; release of new particles was also reduced, but viral entry was not affected. The effects of the variant alleles were recessive and stronger for preventing replication of full-length HCV genomes than subgenomes. CypA inhibitors prevented replication of residual HCV in hepatocytes. The variants appeared to destabilize the CypA protein; the single amino acid changes led to rapid degradation of the protein. CONCLUSIONS: We identified variants in PPIA that destabilize its product, CypA, and prevent HCV infection and replication. These findings indicate mechanisms by which some cells might be resistant to HCV infection and that CypA is a good therapeutic target.


Assuntos
Ciclofilina A/metabolismo , Hepacivirus/fisiologia , Hepatite C/virologia , Hepatócitos/virologia , Polimorfismo de Nucleotídeo Único , Internalização do Vírus , Replicação Viral , Biomarcadores/metabolismo , Linhagem Celular Tumoral , Ciclofilina A/genética , Ensaio de Imunoadsorção Enzimática , Citometria de Fluxo , Hepatócitos/metabolismo , Humanos , Immunoblotting
11.
World Allergy Organ J ; 5(11): 170-3, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23282385

RESUMO

: Aspirin (ASA) hypersensitivity comprises types I to III (Cox-1 mediated) and types IV and V (IgE antibody mediated). Rapid, low-dose (81-325 mg/day) ASA desensitization regimens are known to be useful in establishing ASA tolerance in patients with coronary artery disease and coexisting ASA/nonsteroidal anti-inflammatory drug hypersensitivity. We document 3 cases in Vietnam of desensitization to ASA in patients with coronary artery disease and coexisting ASA hypersensitivity. One of these 3 patients had probable immune-mediated hypersensitivity, whereas the remaining 2 had probable Cox-1-mediated reactions. The regimen of desensitization we employed for each patient was designed to account for the probable mechanism of hypersensitivity in the individual and further modified according to the degree of tolerance observed, with all 3 patients eventually achieving a daily cardioprotective dosage of ASA.

12.
Vaccine ; 28(6): 1613-9, 2010 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-19961961

RESUMO

In this study, we developed a novel DNA vaccine for HPV; a recombinant baculovirus bearing human endogenous retrovirus (HERV) envelope protein, which cannot replicate in mammals, was used as a nano-carrier for HPV-16L1 DNA vaccine (AcHERV-HP16L1). For in vivo test, mice were injected intramuscularly with 107 particles of the constructs, with two boosts at 2-week intervals. Compared with Gardasil (25 microL/dose), the AcHERV-HP16L1 immunized mice showed similar high levels of humoral immunity in IgG/IgA and in neutralization of HPV pseudovirions. Combined immunization (prime with AcHERV-HP16L1 and boost with Gardasil) induced slightly higher neutralizing activity. As compared to the group treated with Gardasil, the mice immunized with AcHERV-HP16L1 showed 450- and 490-fold increase in the IFN-gamma at 5 and 20 weeks after the first priming, respectively. The combined immunization conferred lower T cell immunity than AcHERV-HP16L1 treatment. The advantages of our novel AcHERV-HP16L1 vaccine over Gardasil include higher cellular immunogenicity, considerably lower production cost, and comparable safety. Therefore, we suggest that AcHERV-HP16L1 can be developed as an efficient prophylactic vaccine and therapeutic vaccine.


Assuntos
Proteínas do Capsídeo/imunologia , Proteínas de Transporte/metabolismo , Retrovirus Endógenos/genética , Proteínas Oncogênicas Virais/imunologia , Vacinas contra Papillomavirus/imunologia , Vacinas de DNA/imunologia , Proteínas do Envelope Viral/metabolismo , Animais , Anticorpos Neutralizantes/sangue , Anticorpos Antivirais/sangue , Proteínas do Capsídeo/genética , Proteínas de Transporte/genética , Feminino , Vacina Quadrivalente Recombinante contra HPV tipos 6, 11, 16, 18 , Imunização Secundária , Imunoglobulina A/sangue , Imunoglobulina G/sangue , Injeções Intramusculares , Interferon gama/metabolismo , Camundongos , Camundongos Endogâmicos BALB C , Proteínas Oncogênicas Virais/genética , Vacinas contra Papillomavirus/administração & dosagem , Vacinas contra Papillomavirus/genética , Linfócitos T/imunologia , Vacinação/métodos , Vacinas de DNA/genética , Proteínas do Envelope Viral/genética
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