Clinical Features and Prognostic Factors of Patients with Primary Cutaneous Lymphoma / 中国实验血液学杂志

OBJECTIVE@#To retrospectively analyze the clinical characteristics and prognostic factors of patients with primary cutaneous lymphoma.@*METHODS@#The clinical data of 22 patients with primary cutaneous lymphoma admitted to Xinjiang Hotan District People's Hospital, Heji Hospital affiliated to Changzhi Medical College and the Fifth Medical Center of PLA General Hospital from January 2013 to June 2021 were retrospectively analyzed.@*RESULTS@#The incidence of primary cutaneous T cell and NK/T cell lymphoma was about 91.9/100 000, and the incidence of primary cutaneous B cell lymphoma was about 14.5/100 000. The overall survival (OS) of patients aged ≥65 years was significantly shorter than that of patients younger than 65 years (P <0.05). Patients with elevated β2-microglobulin (β2-MG) had shorter OS and progression-free survival (PFS) (both P <0.05). Patients who achieved complete/partial response after initial treatment had longer OS than those with stable or progressive disease (P <0.05). There were significant differences in OS and PFS among patients with different pathological types of primary cutaneous lymphoma that originated from T and NK/T cells, the OS and PFS of patients with mycosis fungoides were longer than those of patients with other pathological types (both P <0.05). In addition, disease stage might also affect the PFS of the patients (P =0.056).@*CONCLUSION@#The age, disease stage, β2-MG level, pathological type and remission state after treatment of the patients were related to the clinical prognosis.

Methylation analysis of CpG island DNA of FMR1 gene in the fragile X syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To establish a method of methylation-sensitive restriction enzymes based quantitative PCR (MSRE-qPCR) for analysis of CpG island DNA of FMR1 gene, and to assess its value for molecular diagnosis of fragile X syndrome.</p><p><b>METHODS</b>Thirty boys with mental retardation and abnormal repeats of 5'(CGG)n in the FMR1 gene and 20 mothers were analyzed by conventional PCR screening. Eag I was used to digest genomic DNA, and qPCR was performed to amplify CpG island in the FMR1 gene using both undigested and digested templates. Raw Ct values were obtained through quantitative PCR amplification. The degree of CpG island methylation was calculated by 2 - U+0394 U+0394 Ct. The result of MSRE-qPCR was verified by Southern blotting. 30 healthy females and 30 healthy males were used as controls to optimize the established MSRE-qPCR method.</p><p><b>RESULTS</b>The ranges of 2 - U+0394 U+0394 Ct value for normal methylation, partial methylation and full methylation were determined. Among the 30 patients, 3 were found to have partial methylation of CpG island of the FMR1 gene, and 27 were found to have full methylation (3/30 results were verified by Southern blotting). Only 7 mothers were found abnormal methylation of CpG island of FMR1 gene, whilst the remaining 13 mothers were normal.</p><p><b>CONCLUSION</b>MSRE-qPCR is a quick and reliable method for quantitative analysis of CpG island methylation status in FMR1 gene, which may provide a new strategy for the diagnosis of fragile X syndrome.</p>

Evaluation of detection and analysis of chromosome 22q11.2 microdeletion by multiple ligation-dependent probe amplification assay / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate multiplex ligation-dependent probe amplification (MLPA) assay detection in analysis of chromosome 22q11.2 microdeletion.</p><p><b>METHODS</b>Between March 2008 and September 2009, thirty-two patients including 10 males and 16 females aged between years (3.6±3.1) were selected and evaluated by history, physical examination and medical records. Of these patients, sixteen patients who were previous diagnostic as 22q11.2 microdeletion were in positive control group, the other 16 healthy children were in negative control group. All the patients were detected by MLPA and fluorescence in situ hybridization (FISH) for the presence of a 22q11.2 microdeletion after informed consent. Diagnostic efficacy was assessed by sensitivity, specificity and Kappa analysis.</p><p><b>RESULTS</b>We have applied the two assays of detection of chromosome 22q11.2 microdeletion in 32 patients. Sixteen patients in positive control group were found to have a 22q11.2 deletion and, with the deletion size of 3-Mb. However, as expected, chromosome 22q11.2 deletion was not found in negative control group. The MLPA results were in good agreement with that by FISH. Therefore, MLPA has high sensitivity and specificity.</p><p><b>CONCLUSION</b>MLPA is a rapid, reliable, high-throughput and relatively economical alternative to FISH technology for the diagnosis of 22q11.2 microdeletion. It can provide reliable and helpful information for clinical diagnosis of 22q11.2 microdeletion syndrome.</p>

Screening for neonatal inborn errors of metabolism by electrospray ionization-tandem mass spectrometry and follow-up / 中华儿科杂志

<p><b>OBJECTIVE</b>To determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Zhejiang province and to assess the outcome of the patients who were diagnosed.</p><p><b>METHOD</b>Blood spots were collected between days 3 and 6 of life from the newborns. All samples were subjected to MS/MS analysis using Waters Quattro API. Confirmation tests included amino acid analysis, urinary organic acids by GC-MS, routine blood analysis, biochemistry, blood gas analysis, blood glucose and ammonia tests, blood homocysteine, lactate and pyruvate tests, urine acetone tests, biotin and biotin enzyme profile and DNA analysis. Standard treatment protocol was given to the patients. Protein restricted diet, special powdered formula and medicines recommended for the patients with amino acidemias. Protein restricted diet and L-carnitine, folic acid and Vitamin B12 supplementation were given for the patients with organic acidemia. L-carnitine was given to the patients with primary carnitine deficiency. The overall epidemiology, prognosis, follow-up of the screening program were also investigated in the neonates.</p><p><b>RESULT</b>A total of 129 415 neonates were investigated for 26 inborn errors of metabolism during the period. Twenty-three newborns were confirmed as having inborn errors of metabolism, including 13 with amino acidemias, 6 with organic acidemias and 4 with fatty acid oxidation disorders. The prevalence was 1:5626. Positive predictive value was 2.10%, specificity was 99.72% and sensitivity 100%. Seventeen children remain asymptomatic during the follow-up. Five patients had motor and mental developmental delay. One patient presented metabolic disorders during the follow-up. No death occurred in this series of patients.</p><p><b>CONCLUSION</b>This strategy represents a valuable preventive medicine approach by enabling diagnosis and treatment before the onset of symptoms.</p>

Relationship between 22q11 microdeletion syndrome and congenital heart disease / 中华心血管病杂志

<p><b>OBJECTIVE</b>To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease.</p><p><b>METHODS</b>Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization.</p><p><b>RESULTS</b>22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease. The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2% (P < 0.01). The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5% (P < 0.01). In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients.</p><p><b>CONCLUSION</b>22q11 microdeletion syndrome is related to congenital heart disease.</p>

Effect of brucine on secretion function and proliferation capability of T lymphocytes in patients with aplastic anemia / 中国实验血液学杂志

The aim of this study was to investigate the effect of brucine on secretion of TNF-α, IFN-γ, IL-4 and proliferation of T lymphocytes in patients with aplastic anemia (AA), and to explore its mechanism. Peripheral blood T lymphocytes from 10 patients with AA and 10 healthy volunteers were isolated, purified and cultured. T lymphocytes from the patients were divided into 0, 100, 200 and 400 µg/ml brucine-treated groups. T lymphocytes from healthy volunteers were used as control group. After being cultured for 72 hours, the levels of TNF-α, IFN-γ, IL-4 in the supernatant of cultured T lymphocytes from AA patients were detected by ELISA, and the proliferation of T lymphocytes from AA patients was detected by MTT. The results showed that compared with the normal control group, the levels of TNF-α and IFN-γ in the culture supernatant significantly increased, and IL-4 was significantly decreased. The levels of TNF-α and IFN-γ in the culture supernatant of brucine treated groups were lower, and were dependent on the concentration of brucine. However, the levels of IL-4 were found to be not obviously changed. The inhibition rate of T lymphocytes in 100, 200 and 400µg/ml brucine-treated groups were (13.61 ± 4.31)%, (14.28 ± 4.31)% and (15.12 ± 4.56)% respectively, among which the differences were not statistically significant. It is concluded that the brucine can reduce the levels of TNF-α and IFN-γ through inhibiting the proliferation of T lymphocytes in AA patients, which provides experimental basis for therapy of AA patients.

Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome

We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.

Cardiovascular manifestations in 40 patients with Williams syndrome / 中华心血管病杂志

<p><b>OBJECTIVE</b>To evaluate the cardiovascular manifestations of Williams syndrome (WS) confirmed by fluorescence in situ hybridization (FISH).</p><p><b>METHODS</b>Between July 2004 and January 2007, FISH was used to confirm diagnosis in 71 suspected WS cases by detecting chromosome 7q microdeletion. Cardiovascular abnormalities were assessed by echocardiography and Doppler echocardiography.</p><p><b>RESULTS</b>Forty out of 71 patients were detected to have Elastin gene locus microdeletion, 25 patients (25/40, 62.5%) had at least one cardiac anomaly; among these patients, supravalvular aortic stenosis (SVAS) was diagnosed in 18 patients (18/25, 72%) and 6 of them had complex abnormalities. Patent ductus arteriosus was diagnosed in 3 patients (3/25, 12%, 1 was associated with other malformations), isolated pulmonary stenosis in 1 patient (1/25, 4%), isolated coarctation of aorta in 2 patients (2/25, 8%), and hypertension in 2 patients (2/25, 8%), mild aortic regurgitation in 2 patients, mild mitral regurgitation and moderate mitral regurgitation in 3 patients respectively.</p><p><b>CONCLUSION</b>A detailed cardiac evaluation should be performed in all patients with Williams syndrome due to the high frequency of cardiovascular abnormalities.</p>

Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate clinical features and the diagnosis by fluorescence in situ hybridization (FISH) of 22q11 microdeletion syndrome (22q11 DS).</p><p><b>METHODS</b>The clinical data of suspects were analyzed, and their peripheral blood samples were tested by FISH for microdeletion of 22q11. The diagnosis and correlated clinical factors of 22q11 DS were investigated by using the multiple factor Logistic regression analysis and Chi-square test.</p><p><b>RESULTS</b>In 64 suspects, 14 were shown to have 22q11 microdeletion with many different types of malformation, and the percentage was 21.9%. The Logistic regression predictive equation for 22q11 DS was: y=-8.206+2.324x1+2.725x2+1.674x3, P=exp(y)/[1+exp(y)], in which the concomit ant variables were facial dysmorphic features (x1), congenital heart defects (x2), thymus scarcity/infection problem (x3), the P value meant the probability of diagnosis of 22q11 DS.</p><p><b>CONCLUSION</b>Accurate clinical evaluation is just as preliminary screening to patients at risk for del22q11. The results of FISH test can be predicted by using the suitable Logistic regression equation.</p>

Rapid detection of chromosomes X and Y using dual-color primed in situ labeling technique / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To develop a rapid method for detection of chromosomes, and to present a feasible method for rapid detection of the interphase nuclei of uncultured amniocytes using modified dual-color primed in situ labeling (PRINS) technique.</p><p><b>METHODS</b>Chromosomes X and Y were detected and analyzed by the modified dual-color PRINS in 205 amniotic fluid samples.</p><p><b>RESULTS</b>The specific chromosomes were obtained on both metaphase and interphase nuclei. In more than 98% of the samples PRINS reactions with primers X and Y were successfully induced. One sample was properly identified and correctly scored as 47, XXY.</p><p><b>CONCLUSION</b>The results suggest that PRINS technique is rapid, simple and cost-effective. It is also sensitive and specific, and thus useful for rapid detection of chromosome abnormalities.</p>

Rapid detection of 18-trisomy syndrome using primed in situ labeling technique / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To develop a rapid method for the detection of chromosomes and try to verify the feasibility of using modified primed in situ labeling (PRINS) technique for rapid detection of the interphase nuclei of uncultured amniocytes.</p><p><b>METHODS</b>Chromosome 18 was detected and analyzed by the modified PRINS in 262 amniotic fluid samples.</p><p><b>RESULTS</b>The specific chromosomes were obtained on both metaphase and interphase nuclei. In more than 95% of the samples, PRINS reactions with primer 18cen were successfully induced. Two samples were properly identified and correctly scored as trisomic 18.</p><p><b>CONCLUSION</b>The results suggest that PRINS technique is simple, rapid and cost-effective. It is sensitive, specific, and thus can enhance the accuracy of standard cytogenetic analysis.</p>