Objective To detect the DMD gene mutation sites and the regions of breakpoints in Duchenne/Becker muscular dystrophy (DMD/BMD) patients in northern China. Methods Multiplex amplifiable probe hybridization (MLPA) was used to detect the mutation in 59 cases (51 cases with DMD and 8 with BMD) from northern China and dystrophin gene mutations in their parents. Results From northern China and dystrophin gene mutations 59 families found gene deletions in 33 cases of 59 DMD/BMD patients (55.9%), duplications in 6 cases (10. 2%) and point mutation in one case (1.7%). Intron 44 was most frequently affected (n = 13, 33.3%), followed by intron 50 (n = 11, 28.2%) and intron 45 (n=8, 20.5%). The novel mutations were identified, in two patients including two independent duplications carried by patient D1 149 and a point mutation [5208del(A)] carried by patient D1 65, which were not included in Leiden database. In addition, an exon 22 deletion was found in one patient, which was the first reported case in Chinese patients. Conclusions Deletions are mostly located in the hotspot between exon 45 and 50. Duplications mostly occurred in the 5' end of the gene. Intron 44 is the most frequently affected breakpoint in northern Chinese population.

OBJECTIVE To assess the value of quantitative fluorescence PCR (QF-PCR) for the prenatal diagnosis of common fetal chromosomal aneuploidies. METHODS A total of 2436 amniotic fluid samples were collected at 18 to 22 gestational weeks. Multiplex QF-PCR was performed with fluorescence-labeled primers specific for 32 polymorphic short tandem repeat (STR) sites on chromosomes 21, 18, 13, X and Y. The PCR products were assayed by capillary electrophoresis. All samples were also assayed by karyotyping. RESULTS Seventy-six (3.12%) samples were diagnosed as chromosomal aneuploidies by QF-PCR, among which 51 were trisomy 21, 12 were trisomy 18, 2 were trisomy 13, and 1 was triploidy. The results were all consistent with those of karyotyping. Ten samples were suspected as sex chromosomal aneuploidies, among which 9 were confirmed, except for 1 case with X structural abnormality. In addition, karyotyping has diagnosed 24 (0.99%) cases of structural abnormalities, only one of which was suspected by QF-PCR with partial abnormal STR results. Two (0.08%) samples were found to be mosaic by karyotyping, one of which was suggested by QF-PCR with cut-off ratios of STR markers. CONCLUSION QF-PCR is reliable for the diagnosis of numerical abnormalities of chromosomes 21, 18, 13, X and Y. The method can serve as an effective technique for rapid prenatal screening of common chromosome aneuploidies in fetus.
Aneuploidy ; Female ; Fluorescence ; Humans ; Microsatellite Repeats ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods

Objective To investigate the tumor/ non-tumor (T/ NT) ratio during 99 Tcm-hydrazinon-icotinamide(HYNIC)-( poly-( ethylene glycol), PEG) 4-Glu( cyclo ( Arg-Gly-Asp-D-Phe-Lys ( PEG4 ))) 2 ( 99 Tcm-3PRGD2 ) SPECT/ CT imaging and clinical pathological features of breast cancer. Methods Forty-five female patients (age range: 39-76 (53.0±9.5) years) with suspected breast malignant nodules or mas-ses from October 2016 to June 2017 were prospectively enrolled. Patients underwent 99 Tcm-3PRGD2 SPECT/CT imaging before breast puncture and surgery. All subjects had pathological results, and estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2(HER-2), Ki-67 and mi-crovessel density ( MVD) were obtained by immunohistochemistry and fluorescence in situ hybridization(FISH). Two-sample t test and Kruskal-Wallis H test were used to analyze the data. Results Invasive duc-tal carcinoma was pathologically confirmed in 35 of 45 patients. There were 7 patients in stage Ⅰ, 11 pa-tients in stage ⅡA and 17 patients in stage ⅡB. The Luminal A subtype, Luminal B subtype, ERBB2+subtype, Basal-like subtype were found in 6, 9, 9 and 11 patients, respectively. The T/ NT ratio was signifi-cantly higher in the stageⅡB patients than that in stageⅠ+ⅡA patients (4.54±1.46 vs 3.32±1.72, t= -2.24, P<0.05). Patients with ERBB2+ subtype had higher T/ NT ratio compared to patients with Basal-like sub-type: 5.80(3.90, 6.70) vs 2.80(2.20,3.50), H= 11.06, χ2 = 15.31, both P<0.05. Besides, the T/ NT ra-tios in the HER-2 positive group and lymphatic metastasis group were significantly higher than those in the HER-2 negative group and group without lymph node metastasis (t values: -3.99, -2.51, both P<0.05). MVD of HER-2 positive group was higher than that of HER-2 negative group (t= 7.13, P<0.01). Conclu-sion The T/ NT ratio during 99 Tcm-3PRGD2 SPECT/ CT imaging has relations with TNM staging, lymph node infiltration and HER-2 in breast cancer.

ObjectiveTo explore the current status and issues regarding the application of ancient books in clinical practice guidelines and expert consensus of traditional Chinese medicine （TCM） published in China， and to provide methodological recommendations for the incorporation of ancient books in the development of TCM guidelines. MethodsWe searched China National Knowledge Infrastructure （CNKI）， WanFang Data， VIP， SinoMed， PubMed， Embase， as well as six industry websites including China Association of Chinese Medicine， National Group Standards Information Platform， and Chinese Association of the Integration of Traditional and Western Medicine，etc. TCM clinical practice guidelines or expert consensus issued during January 1st， 2017， to November 26th， 2022 were searched. Clinical practice guidelines or expert consensus that explicitly referred to ancient books were included， and the content regarding the searching for ancient books， sources of access to ancient books， methods of evaluating the level of evidence， methods of evaluating the level of recommendation， and methods of evaluating the evidence for the ancient books were analysed. ResultsA total of 1,215 TCM clinical practice guidelines or expert consensus were retrieved， with 442 articles explicitly mentioning the application of ancient books， including 300 （67.87%） clinical practice guidelines and 142 （32.13%） expert consensus. Sixty of the 442 publications explicitly reported that ancient books searching had been conducted （13.57%）； among these 60 publications 27 （45.00%） explicitly reported ancient books searching strategies， and the most frequent method was manual searching with a total of 24 articles （40.00%）. The most popular search source was Chinese Medical Dictionary， a TCM classics database， with a total of 18 articles. 197 articles （44.57%） explicitly reported the evaluation criteria for the level of evidence， of which 141 articles （71.57%） involved the evaluation criteria for the ancient books； 413 articles （93.44%） mentioned ancient books in the recommendations， and only the source of formula name was mentioned in 409 （99.03%） of the publications. ConclusionThe current application of ancient books in TCM clinical practice guidelines and expert consensus is limited， with issues of non-standard searching and evaluation methods. Standar-dization and uniformity are needed in evidence grading and recommendation standards. Future research should clarify the scope and methods of applying ancient book， emphasize their integration with modern research evidence， and enhance their value and quality in the development of TCM clinical practice guidelines.