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Yan-hui Liu

Publications and source records attributed to Yan-hui Liu.

12 recordsLinked to original sources
PubMed2006

[Genetic analysis of translocation of chromosome t(4;9) in a child with rare chromosome abnormality].

A 10-month-old boy suspected of genetic abnormality was admitted for fever and coughing. Routine G-banding chromosome analysis of the peripheral blood lymphocytes and hereditary pattern analysis on the basis of the karyotypes and disease history revealed that the karyotype of the boy's mother was 46, XX,t(4;9)(q31;p24), and that of the boy was XY,der(9)t(4;9)(q31;p24)mat. The mother was identified as a carrier of balanced translocation of the chromosome who gave the abnormal chromosome 9 to her son, and she had only a chance of 1:18 to have a normal offspring. This case reiterates the importance of antemarital examination and prenatal diagnosis for preventing chromosomal diseases.

Abnormalities, Multiple↗
PubMed2006

[Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency].

OBJECTIVE: To discover the mutations of human blood coagulation factor V (FV) gene in a Chinese family with congenital factor V deficiency, and to explore the molecular mechanism associated with the congenital factor V deficiency. METHODS: PCR and DNA sequencing were used to look for the FV gene mutations in the proband. And the novel mutation were testified by PCR restriction fragment length polymorphism technique or reverse DNA sequencing. One hundred healthy volunteers were chosen as controls at random. RESULTS: Two novel mutations were discovered in the FV gene of proband, which were the A1763C missense mutation in exon 11 and the splicing site mutation in the 3' terminal of intron 16 (G-->T). The pedigree analysis showed that the two mutations inherited from his parents respectively: the A1763C came from his father, and the G-->T from his mother. The A1763C missense mutation in exon 11 was not found in each of 100 healthy volunteers. CONCLUSION: The congenital deficiency of FV in the proband might be caused by the A1763C missense mutation in exon 11 and the splicing site mutation in the 3' terminal of intron 16, which jointly caused the proband to be a double heterozygote.

Base Sequence↗
PubMed2005

[T-cell/histiocyte-rich B-cell lymphoma: histology, immunophenotype and differential diagnosis].

OBJECTIVE: To study the histology, immunophenotype and differential diagnosis of T-cell/histiocyte-rich B-cell lymphoma (TCRBCL). METHODS: A review of 245 cases of so-called Hodgkin lymphoma diagnosed during the period from 1980 to 2000 in 3 hospitals in Guangzhou, 8 cases were reclassified as TCRBCL, according to the 2001 World Health Organization classification of lymphoid neoplasms. An additional 8 cases of TCRBCL were retrieved from consultation files, as well as routine biopsy cases encountered between 2000 and 2004. Immunohistochemical studies were performed on paraffin-embedded tissue by SP technique in order to study the immunophenotype of the large neoplastic cells (CD20, CD79a, CD3, CD45RO, CD15, CD30, CD10, bcl-6 and EMA) and background non-neoplastic cells (CD3, CD8, CD20, CD45RO, CD79a, CD57, CD68, CD21, CD35, cyclin D1, TIA-1). In-situ hybridization for EBER 1/2 and immunoglobulin heavy chain gene rearrangement study were also performed in 4 and 4 cases respectively. RESULTS: Among the TCRBCL cases studied, there were 8 males and 8 females. The age of patients ranged from 10 to 68 years old (mean = 40.3 years old). All had lymphadenopathy and hepatosplenomegaly. On presentation, 3 cases belonged to stage II, 10 cases stage III and 3 cases stage IV. Histologically, scattered atypical large neoplastic cells were seen in a background of small lymphocytes and sometimes histiocytes. The large cells exhibited CD20+, CD79a+, EMA+, CD15- and CD30- phenotype. On the other hand, the background small lymphocytes were CD3 and CD45RO-positive. Most of these background T cells expressed CD8 and TIA-1, while they were mostly CD57-negative. The histiocytic cells were CD68-positive; and CD21 and CD35-positive follicular dendritic cell meshworks were absent. In-situ hybridization for EBER 1/2 showed negative nuclear signals. Immunoglobulin heavy chain gene rearrangement study revealed clonal pattern in all the 4 cases tested. CONCLUSIONS: TCRBCL is a rare subtype of lymphoma, with distinctive histology and immunophenotype. The above features are helpful in delineating this entity from Hodgkin lymphoma, reactive lymphoid hyperplasia and lymphomatoid granulomatosis.

Adolescent↗
PubMed2004

[Analysis of the associated factors of spinal cord injuries with multi-traumas].

OBJECTIVE: To investigate the patterns of spinal cord injuries with multi-traumas- and clinical outcomes. METHODS: A retrospective review was performed on 132 patients with spinal cord injuries associated with multiple injuries that were treated at our department from August 1996 to July 2002. The age at presentation, causes of injury, associated injuries, the locations and degrees of spinal cord injuries, treatment, and clinical outcome were determined. The American Spinal Injury Association (ASIA) Grades were adopted in this study. RESULTS: Among all patients, 94 were males and 38 were females, the ages ranged from 14 to 65 years, most of them were youth. Traffic accidents were the most mechanism causing injuries (62%), followed by fall (24.5%). Traumas on extremities constituted the first associate injuries (51.5%), head injuries constituted 32%, and thoracic injuries (30%). The main damaged regions of spinal cord were C1-2, C6-T1, T6-8, and T12-L1. The more serious the associated injuries, the poorer the outcome. Thirty four (26%) patients died finally. The major causes of death were respiratory failure and severe brain injuries. The neurologic defects improved partially in patients with incomplete spinal cord injuries while no obvious signs showed improvement in patients with complete spinal cord injuries. CONCLUSION: The complexity of associated injuries will affect the treatment and prognosis of traumatic spinal cord injuries importantly. To understand the patterns and characteristics of this kind of multiple traumas is helpful to evaluating and treating these complicated injuries, and also may be helpful to the design of safety furniture and devices.

Accidents, Traffic↗
PubMed2004

[Methylation and expression analysis of p16(INK4a) and RB genes in meningiomas].

OBJECTIVE: To investigate the methylation of p16(INK4a) and RB gene, and the expression of p16(INK4a) in meningiomas. METHODS: Methylation-specific polymerase chain reaction (MSP) was used to detect the methylation of p16(INK4a) and RB in 50 cases of meningiomas, and immunostaining was performed to analyze the protein expression of p16(INK4a) in 25 of those cases. RESULTS: No methylation was found in the benign meningiomas, whereas methylation of p16(INK4a)or RB occurred in 6(37.5%) cases of grade II tumors and 4(28.6%) cases of grade III tumors, and among these cases, an atypical meningioma showed methylation of both genes. Thirteen cases showed p16(INK4a) positive expression, but none of them was methylated. CONCLUSION: The methylation of p16(INK4a) or RB is related with the tumorigenesis and progression of atypical and anaplastic meningiomas, and a probable mechanism is that methylation causes the loss of expression and leads to dysfuncation of the p16(INK4a)/cyclin D1/CDK4/RB pathway.

Adolescent↗
PubMed2003

[Diagnosis and differential diagnosis of granulocytic sarcomas].

OBJECTIVE: To investigate the diagnosis and differential diagnosis of granulocytic sarcoma (GS). METHODS: The morphological and immunological characteristics of 12 cases of GS were studied. FAB classification was made by peripheral blood, bone marrow picture and bone marrow biopsy assay. RESULTS: All of the 12 cases presented with lymphadenopathy and soft tissue mass. Histologically, the tissue infiltration of GS was composed of blastic cells with round to oval nuclei showing an even, pale chromatin pattern. Some with cleaved or notched nuclei. There were prominent nucleoli and scant cytoplasm in the cells and mitosis was easily found. Immunohistochemically, CD(45) and lysozyme were positive in all of the cases, MPO in 11 (92%), CD(68) in 10 (83%), CD(34) in 5 (42%), and TdT in 2 cases (17%). CD(15) and Mac387 were mainly expressed in mature granulocytes. Examination of bone marrow sections and marrow aspirate smears showed that out of the 11 cases tested 8 were AML-M(2), 2 AML-M(1) and 1 AML-M(0). Only 1 case was nonleukemic, ie. solitary granulocytic sarcoma. CONCLUSION: Granulocytic sarcomas are difficult to identify in routine paraffin-embedded tissue sections and usually misdiagnosed as non-Hodgkin's lymphomas. Immunohistochemistry study with a panel of antibodies in combination with bone marrow and peripheral blood examination are helpful in identification of granulocytic sarcoma.

Adolescent↗
PubMed2003

[Dry eye in graft-versus-host disease].

OBJECTIVE: To investigate patients who had ocular presentations after allogeneic hematopoietic stem cell transplantation. METHODS: The eyes of 20 patients of leukemia who had undergone allogeneic hematopoietic stem cell transplantation were examined. The ocular surface of these patients was examined by slit-lamp. The eye examination also included evaluation of tear break-up time, Schirmer tests with and without nasal stimulation, and fluorescein staining, rose bengal staining, etc. Conjunctival impression cytology and pathological examination of surgical specimens from 3 patients were performed. RESULTS: Fourteen of 20 patients developed chronic graft-versus-host disease (cGVHD). Eight patients suffered from dry eye accompanied by GVHD simultaneously. The incidence of dry eye in GVHD was 57%. Among them, 4 cases were severe dry eye associated with significant decrease of visual acuity and even development of corneal ulcer. Ophthalmic pathology findings were as follows: loss of conjunctival goblet cells or significant reduction in amount; conjunctival and corneal epithelial keratinization and squamous metaplasia; and dominance of T cell in conjunctival inflammatory infiltration cells. CONCLUSION: Dry eye is the major ocular complication after allogeneic hematopoietic stem cell transplantation. It affected the patients' life quality severely. The high incidence and potentially severe ocular problems in these patients suggest that close ophthalmic monitoring is important in allogeneic hematopoietic stem cell transplantation.

Adult↗