Value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of pre-gestational deafness-related mutation screening for the prevention and intervention of congenital deafness.</p><p><b>METHODS</b>In this study, 2168 couples with normal hearing were screened for common mutations associated with congenital deafness using real-time fluorescence quantitative PCR. The mutations have included GJB2 c.235delC and c.299_300delAT, SLC26A4 c.2168A>G and c.IVS7-2A>G, and mtDNA 12SrRNA c.1494C>T and c.1555A>G. For couples who have both carried heterozygous mutations of the same gene, genetic counseling and prenatal diagnosis were provided.</p><p><b>RESULTS</b>Among of the 4 336 individuals, 178 (4.06%) were found to carry a mutation. Mutation rate for c.235delC and c.299_300delAT of GJB2 gene, c.IVS7-2 A>G and c.2168 A>G of SLC26A4 gene, c.1555 A>G and c.1494 C>T of DNA 12S rRNA gene were 0.91%, 0.20%, 0.68%, 0.11%, 0.1% and 0.01%, respectively. For six couples who have both carried mutations of the same gene, all fetuses showed a normal karyotype, while DNA sequencing indicated that two fetuses have carried homozygous c.235delC mutation of the GJB2 gene, one carried a heterozygous c.235delC mutation of the GJB2 gene, one carried heterozygous mutation of GJB2 gene (c.299_300delAT), and two have carried a heterozygous mutation of c.IVS7-2A>G of the SLC26A4 gene.</p><p><b>CONCLUSION</b>Pre-gestational screening for deafness gene mutation can facilitate avoidance the birth of affected children and has a great clinical value for the prevention and intervention of birth defect.</p>

Combined hearing and deafness gene mutation screening of 11,046 Chinese newborns / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the efficacy of combined newborn hearing screening and deafness-related mutation screening.</p><p><b>METHODS</b>Eleven thousand and forty-six newborn babies were screened with otoacoustic emission, automatic auditory brainstem response and genetic testing using a standard protocol. Common mutations of three deafness-related genes have included GJB2 (c.235delC, c.299-300delAT), mtDNA 12srRNA (c.1494C>T, c.1555A>G) and SLC26A4 (c.2168A>G, c.IVS7-2A>G).</p><p><b>RESULTS</b>The detection rate for hearing loss in the first-step screening was 0.81% (90/11,046). 513 individuals were found to carry one or two mutant alleles, which gave a carrier rate of 4.64% (513/11,046). Five hundred and eighty-four newborns were positive for hearing screening and genetic screening. Among these, 19 have failed both tests, 71 have failed hearing screening, and 494 have failed genetic screening. The combined hearing and genetic screening has given a positive rate of 5.29%.</p><p><b>CONCLUSION</b>Neither hearing screening nor genetic screening is sufficient to identify individuals susceptible to auditory disorders. Combined used of these methods can improve the rate of detection.</p>

Large granular lymphocyte leukemia: three cases report and review of the literature / 白血病·淋巴瘤

Objective To investigate the clinical characteristics and methods of diagnosis and treatment of granular lymphocytic leukemia (LGLL).Methods Clinical data of 3 patients with LGLL were retrospectively analyzed and relevant literature was reviewed.Results 3 patients were all onset with lymphocytosis,whose conditions progressed slowly.The diagnosis of 2 patients was T-LGLL with immunological characteristics of CD3+ CD4 CD8+ CD56-CD57+.The other patient' s diagnosis was NK-LGLL,whose immunological characteristic was CD3-CD4-CD8-CD56+ CD57-.Two of them didn' t need any treatment.One of them was treated with cyclosporine because of agranulocytosis and recurrent infection.Conclusions LGLL is a group of heterogeneous diseases,which clinical characteristic and prognosis are different.Flow cytometric immunopheotype,TCR Vβ analysis and TCR gene rearrangement are helpful to diagnosis.

Pharmacological Mechanism of Jintong Capsule on Tourette Syndrome Rat Model Induced by Iminodipropionitrile / 中国康复理论与实践

@#ObjectiveTo observe the effects of Jintong capsule on model rats of Tourette syndrome (TS) and explore its probable pharmacological mechanisms.MethodsSD rats were randomly divided into six groups: blank control, TS model, haloperidol and three Jintong capsule treated groups. Model rats were copied by intraperitoneal injection of iminodipropionitrile (IDPN). The stereotyped behaviors of model rats were recorded. Open field test was used to detect ability of space recognition of rats, high performance liquid chromatography was used to detect content of monoamines, and flow cytometry was used to detect the ratio of T lymphocyte.ResultsJintong capsule can ameliorate the stereotyped behaviors of model rats, decrease content of dopamine in striatum and increase the ratio of CD4/CD8.ConclusionJintong capsule can improve behaviors of model rats. The potential mechanism of Jintong capsule maybe: it can affect the dopaminergic system of model rats, and Jintong can enhance the immune system of model rats.

The value of flow cytometry in diagnosis and subclassification of non-Hodgldn lymphoma / 白血病·淋巴瘤

Objective To evaluate the utility of flow cytometry (FCM) in diagnosis and subclassification of non-Hodgkin lymphoma (NHL). Methods The samples of lymph nodes biopsy from 59 cases clinically suspected of NHL were detected by flow cytometry; and clonal lymphocytes and their immunophenotypes were identified analyzed. The concordance between the results of flow cytometry and histopathology was analyzed. Results Among the 59 cases, flow cytometry was able to identify aberrant clonal lymphocytes in 24 of 28 NHL cases identified by histopathology, the neoplastic lymphocytes ranged from 4.28 % to 89.10 %; 23 cases were diagnosed as B-NHL and 1 case was diagnosed as T-NHL. Compared with histopathology, the accuracy of FCM was 85.71% in diagnosis of NHL. The specificity and sensitivity of FCM was 100 % and 92% in diagnosis of B-NHL. The accuracy of flow cytometry immunophenotyping in classification of 24 cases of NHL was consistent with that of histopathology. Conclusion Flow cytometry could be an ancillary technique in diagnosis of NHL by identifying aberrant clonal lymphocytes, and enable identification of B-NHL subtype.

Study of the Subsets of the Lymphocyte and Dendritic Cells in Peripheral Blood in Patients with Neurosyphilis / 中国康复理论与实践

@#ObjectiveTo analysis the subsets of the lymphocyte and dendritic cells (DC) in peripheral blood in patients with neurosyphilis and investigate the relationship between these cells and onset of neurosyphilis.MethodsThe subsets of CD4+T cells as well as DCs and the counts of CD4+T and CD8+T were analyzed by flow cytometry with immunofluorescent staining in 8 patients with neurosyphilis and 10 healthy controls.ResultsIn peripheral blood of neurosyphilis patients the proportion of CD4+T cell was significantly higher than that in the normal controls ( P<0.01); the proportion of CD8+T cell was significantly lower than that in the normal controls ( P<0.05). The proportion of Th1, Th2 and the ratio of Th1/Th2 in neurosyphilis patients was (14.12±5.12)%, (1.52±0.88)% and (12.05±5.62), respectively. In normal controls, it was (26.10±4.98)%, (0.99±0.35)% and (31.62±16.62) respectively. The expression of Th1 and the ratio of Th1/Th2 in neurosyphilis patients was significantly lower than the normal controls (P<0.05). The proportion of DC1 and DC2 in neurosyphilis patients was not significantly different from that in normal controls ( P>0.05). There was a significant correlation between DC1 and Th1, DC2 and Th2 in the neurosyphilis patients ( P<0.051), but no correlation between the proportion of DCs and the ratio of Th1/Th2 ( P>0.05).ConclusionThe cellular immune function of neurosyphilis patients may be inhibited, and there is no relationship between the proportion of DCs subset and unbalance of Th1/Th2.

Study of the Subsets of the Lymphocyte and Dendritic Cells in Peripheral Blood in Patients with Neurosyphilis / 中国康复理论与实践

@#ObjectiveTo analysis the subsets of the lymphocyte and dendritic cells (DC) in peripheral blood in patients with neurosyphilis and investigate the relationship between these cells and onset of neurosyphilis.MethodsThe subsets of CD4+T cells as well as DCs and the counts of CD4+T and CD8+T were analyzed by flow cytometry with immunofluorescent staining in 8 patients with neurosyphilis and 10 healthy controls.ResultsIn peripheral blood of neurosyphilis patients the proportion of CD4+T cell was significantly higher than that in the normal controls ( P<0.01); the proportion of CD8+T cell was significantly lower than that in the normal controls ( P<0.05). The proportion of Th1, Th2 and the ratio of Th1/Th2 in neurosyphilis patients was (14.12±5.12)%, (1.52±0.88)% and (12.05±5.62), respectively. In normal controls, it was (26.10±4.98)%, (0.99±0.35)% and (31.62±16.62) respectively. The expression of Th1 and the ratio of Th1/Th2 in neurosyphilis patients was significantly lower than the normal controls (P<0.05). The proportion of DC1 and DC2 in neurosyphilis patients was not significantly different from that in normal controls ( P>0.05). There was a significant correlation between DC1 and Th1, DC2 and Th2 in the neurosyphilis patients ( P<0.051), but no correlation between the proportion of DCs and the ratio of Th1/Th2 ( P>0.05).ConclusionThe cellular immune function of neurosyphilis patients may be inhibited, and there is no relationship between the proportion of DCs subset and unbalance of Th1/Th2.

Study of the Subsets of the Lymphocyte and Dendritic Cells in Peripheral Blood in Patients with Neurosyphilis / 中国康复理论与实践

@#ObjectiveTo analysis the subsets of the lymphocyte and dendritic cells (DC) in peripheral blood in patients with neurosyphilis and investigate the relationship between these cells and onset of neurosyphilis.MethodsThe subsets of CD4+T cells as well as DCs and the counts of CD4+T and CD8+T were analyzed by flow cytometry with immunofluorescent staining in 8 patients with neurosyphilis and 10 healthy controls.ResultsIn peripheral blood of neurosyphilis patients the proportion of CD4+T cell was significantly higher than that in the normal controls ( P<0.01); the proportion of CD8+T cell was significantly lower than that in the normal controls ( P<0.05). The proportion of Th1, Th2 and the ratio of Th1/Th2 in neurosyphilis patients was (14.12±5.12)%, (1.52±0.88)% and (12.05±5.62), respectively. In normal controls, it was (26.10±4.98)%, (0.99±0.35)% and (31.62±16.62) respectively. The expression of Th1 and the ratio of Th1/Th2 in neurosyphilis patients was significantly lower than the normal controls (P<0.05). The proportion of DC1 and DC2 in neurosyphilis patients was not significantly different from that in normal controls ( P>0.05). There was a significant correlation between DC1 and Th1, DC2 and Th2 in the neurosyphilis patients ( P<0.051), but no correlation between the proportion of DCs and the ratio of Th1/Th2 ( P>0.05).ConclusionThe cellular immune function of neurosyphilis patients may be inhibited, and there is no relationship between the proportion of DCs subset and unbalance of Th1/Th2.

Immunophenotyping of eighty six children with acute lymphoblastic leukemia by three-color flow cytometry / 中华血液学杂志

<p><b>OBJECTIVES</b>To evaluate the specificity of three-color flow cytometry in childhood acute lymphoblastic leukemia (ALL) immunophenotyping.</p><p><b>METHODS</b>Immunophenotyping was performed by three-color flow cytometry analysis using CD(45)/SSC gating.</p><p><b>RESULTS</b>The percentage of blasts was correlated better with leukemic cell count compared with that of FSC/SSC, and the false positive results were low. Among eighty six cases of ALL, 95.3% was B-ALL, in which common-ALL and Pro-B-ALL were 76.8% and 6.1%, respectively, and 2.3% was T-ALL. CD(34)(+) and myeloid-associated antigen expression were observed in 57.0% and 34.9% of the cases, respectively, among which Pro-B-ALL was the commonest. CD(33) was more commonly expressed than CD(13) in Pro-B-ALL cases, but no difference in the expression between these two antigens in other subtypes.</p><p><b>CONCLUSION</b>Gating of CD(45)/SSC eliminated effection of normal cells to blasts in bone marrow, with which the immunophenotyping results were more reliable.</p>