Hemophagocytic syndrome in a patient with Fanconi anemia and VACTERL association / Síndrome hemofagocítica em paciente com anemia de Fanconi e associação VACTERL

INTRODUCTION: Hemophagocytic syndrome results from hyperactivity of histiocytes and lymphocytes, triggered by infections, mainly viral by cytomegalovirus, Epstein-Barr and herpes. Fanconi anemia (FA) is a rare genetic disease with heterogeneous symptoms common to other diseases such as VACTERL, a disease of unknown etiology in which there are several congenital malformations. The concomitance of Fanconi and VACTERL anemia occurs in 5 to 30% of FA patients. REPORT: A 14-month-old male infant was admitted to investigate fever, hepatosplenomegaly, and granulopenia. The patient was diagnosed with hemophagocytic syndrome due to hyperferritinemia, bone marrow hemophagocytosis, transaminase elevation, decreased fibrinogen, and cytomegalovirus (CMV) infection confirmed by serology and PCR. The test with mitomycin C (MMC) showed chromosomal fragility. The patient was diagnosed with a VACTERL/FA association for having a clinic and a test compatible with both FA and VACTERL. CONCLUSION: The VACTERL/FA association is seldom described, but is present in pediatric medical practice. This study presented the main clinical-laboratory aspects and reviewed the main aspects of the concurrence of this pathology.

INTRODUÇÃO: A síndrome hemofagocítica decorre da hiperatividade de histiócitos e linfócitos e é desencadeada por infeções, principalmente virais por citomegalovírus, Epstein-barr e herpes. A anemia de Fanconi (AF) é uma doença genética rara com sintomas heterogêneos em comum a outras doenças como a associação VACTERL, uma doença de etiologia desconhecida na qual existe diversas mal formações congênitas. A concomitância da anemia de Fanconi e VACTERL é descrita em 5 a 30% dos pacientes AF. RELATO: Lactente de 14 meses, sexo masculino, admitido para investigar um quadro de febre, hepatoesplenomegalia e granulopenia. Os exames laboratoriais mostraram a hiperferritemia, elevação da transaminases, medula óssea com hemofagocitose e, sorologia e PCR positivos para citomegalovírus (CMV). O paciente foi diagnosticado com síndrome hemofagocítica por citomegalovírus. Como havia também hipoplasia do polegar esquerdo, presença de hemivértebra, agenesia renal e teste positivo de fragilidades cromossômicas com mitomicina C (MMC), o paciente foi diagnosticado com associação VACTERL/AF. CONCLUSÃO: O citomegalovírus quando infecta pacientes com problemas de imunidade como AF, apresenta risco de desencadear a síndrome hemofagocítica. A associação VACTERL/AF é pouco descrita, mas presente na prática médica da pediatria. Esse estudo descreveu os principais aspectos clínicos-laboratoriais e revisou os aspectos fundamenais descritos sobre a concomitância dessas patologias.

FHIT,p53 Expression and correlation in cervical cancer / 中国基层医药

ObjectiveTo investigate the correlation and expression of fragile histidinetriad gene(FHIT) and p53 expressed in normal cervix,cervical intraepithelial neoplasia( CIN),cervial cancer( CC),and the significance of FHIT and p53 in the chnical diagnosis,treatment and prognosis of cervical cancer.MethodsIt was performed immunohistochemieal analysis of formalin fixed,paraffin-embedded 20 normal cervical(NC) biopsies,10 CIN1 samples、20CIN Ⅱ samples、20 CINⅢ samples and 70 cervical cancer samples to detect FHIT、p53expression.ResultsFHIT expressed 100％ (20/20) of normal cervical,60％ (6/10) of CIN Ⅰ,40％ (8/20) of CIN Ⅱ,25％ (5/20) of CINⅢ and 3％ (2/70) of cervical cancer;positive rate among the groups was different (P ＜ 0.05 ).p53 positive expressed in 0％ (0/20) of normal cervical,20％ (2/20) of CIN Ⅰ,35 ％ ( 7/20 ) of CIN Ⅱ,55％ ( 11/20 ) of CIN Ⅲ and 70％(49/70) of cervical cancer:positive rate among the groups was different (P ＜ 0.05 ).FHIT and p53 expression was negatively correlated with CIN and cervical cancer in the cervix ( P ＜ 0.05 ).ConclusionFHIT deletion and p53 overexpression was the early and common cases with the cervical cancer,which were negatively correlated in the pathogensis and development of cervical cancer:FHIT could screen the high risk of CIN,and give the basis of cervical cancer gene therepy.

Correlation between chromosome fragile site and proto-oncogene in patients with hepatocellular carcinoma / 吉林大学学报(医学版)

Objective To explore the correlation between chromosome fragile site in peripheral blood lymphocytes and proto-oncogene expression rate in patients with hepatocellular carcinoma.Methods The peripheral blood lymphocyte chromosome preparation was made routinely.The cells were cultivated with low concentrations of calf serum and folic acid,higher pH medium and G-banding method.The fragile sites in 20 patients with hepatocellular carcinoma(experimental group) and 18 healthy subjects(control group) were exactly located and analyzed.(Results The) fragile sites in experimental group were determined as 44 species mainly distributed on the chromosomes of A,B,C group.The expression rate of the fragite site in experimental group(9.90%) was significantly higher than that in control group(0.67%)(P