OBJECTIVE: This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province. METHODS: We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed. RESULTS: The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α ^3.7/αα (50.23%) and β ^IVS-II-654/β ^N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively. CONCLUSION Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans ; beta-Thalassemia/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobinopathies/genetics* ; China/epidemiology* ; High-Throughput Nucleotide Sequencing

Objective: To survey the children under 7 years of age in nine cities of China for a better understanding of the current situation of childhood stunting. Methods: According to a stratified cluster sampling design, a cross-sectional survey on children under 7 years of age was carried out in 9 cities (Beijing, Harbin and Xi′an in northern China; Shanghai, Nanjing and Wuhan in central China; and Guangzhou, Fuzhou and Kunming in southern China) from June to November in 2016. A total of 110 499 children were recruited. Height of children was evaluated using the growth standards for Chinese children (2009 edition) .Children with height less than the 3rd percentile of the growth standards were considered as stunting, and children with height between the 3rd and 10th percentiles of the growth standards were considered as relatively short stature. Chi-square test was used for comparison between data of boys and girls, urban and suburban, as well as among different ages and regions. Results: Totally 113 084 children under 7 years of age should be investigated and actually 110 499 children were investigated, with a rate of 97.7%. The prevalence of stunting was 1.9% (2 141/110 499) among all the children. The prevalence of stunting in urban children (1.6%, 904/55 524) was lower than that in suburban children (2.3%, 1 237/54 975, χ²=56.246, P<0.01). The gender difference in stunting prevalence was not statistically significant (1.9% (1 121/57 921) in boys and 1.9% (1 020/52 578) in girls, χ²=0.003, P=0.965). The prevalence of stunting decreased with age for children younger than 3 years, from 1.8% (312/17 080) in 0-<1 year of age group to 1.2% (168/13 740) in 2-<3 years of age group, but increased to 2.2% (240/11 073) at 6-<7 years group. Comparison among different regions showed that the stunting prevalence in southern region was higher than those in the central and northern regions (0.9% (193/20 374) in northern urban, 0.8% (154/18 486) in central urban, and 3.3% (557/16 664) in southern urban children), showing a statistical significance (χ²=437.736, P<0.01); 1.1% (241/21 924) in northern suburban, 1.4% (227/16 775) in central suburban and 4.7% (769/16 276) in southern suburban children, showing a statistical significance (χ²=646.533, P<0.01). In urban areas, the difference between the central and northern regions showed no statistical significance (χ²=1.429, P=0.232) and the stunting prevalence of central Chinese children was slightly higher than that of northern Chinese children in suburban areas (χ²=5.130, P=0.024). Among the nine cities, the stunting prevalence of Guangzhou (6.1%, 613/10 019) was higher than those of other cities (χ²=1 559.64, P<0.01). Among the stunting children, 78.4% (1 679/2 141) were classified as borderline or mild and only 7.2% (154/2 141) were classified as severe. The prevalence of relatively short stature was 5.2% (5 721/110 499). Conclusions The prevalence of stunting among children under 7 years of age in nine cities of China is low and most of the stunting children were classified as mild; the prevalence of stunting in suburban children is higher than that in urban children; the gender difference show no statistical significance; and the prevalence of stunting in southern Chinese children is higher than those in central and northern Chinese children.

Objective: To investigate the efficacy and predictors of autologous hematopoietic stem cell transplantation (auto-HSCT) in the treatment of T lymphoblastic lymphoma (T-LBL) . Methods: 41 patients with T-LBL who underwent auto-HSCT from April 2006 to July 2017 in the Department of Hematology, the First Affiliated Hospital of Soochow University and the Department of Lymphoma, Peking University Cancer Hospital were analyzed retrospectively. Results: ①Among 41 patients, there were 30 males and 11 females with median age of 24 (11-53) years old. According to the Ann Arbor staging, 33 (80.5%) patients were in stage Ⅲ/Ⅳ. 12 (29.3%) patients have mediastinal involvement, and 20 (48.8%) patients have bone marrow (BM) involvement. Before transplantation, there were 26 (63.4%) patients who achieved first complete remission (CR(1)) , the other 15 (36.6%) patients were in the non-CR(1) group, and there were 29 (70.7%) patients in the low-intermediate risk group (IPI<3 scores) , the other 12 (34.1%) patients were in the middle-high risk group (IPI≥3 scores) . ②The median follow-up was 29 (3-98) months. The 3-year overall survival (OS) and progression-free survival (PFS) for 41 patients were (64.3±8.2) % and (66.0±7.8) %, respectively. 3-year cumulative recurrence rate (CIR) was (30.7±7.4) %, and 3-year non-recurring mortality (NRM) was (4.8±4.6) %. ③The 3-year OS of the CR(1) group and the non-CR(1) group were (83.4±7.6) % and (38.9±12.9) % (P=0.010) , and the 3-year PFS of two groups were (83.8±7.4) % and (40.0±12.6) % (P=0.006) , respectively. The 3-year CIR of these two groups were (16.2±7.4) % and (53.3±12.9) % (P=0.015) , and the 3-year NRM were 0 and (14.3±13.2) % (P=0.157) , respectively. ④The 3-year OS of the IPI low-intermediate risk group and the high-intermediate risk group were (76.9±8.4) % and (35.7±15.2) % (P=0.014) and the 3-year PFS were (77.4±8.2) % and (40.0±14.6) (P=0.011) , respectively. The 3-year CIR of these two groups were (18.1±7.3) % and (60.0±14.6) % (P=0.006) , and the 3-year NRM were (5.6±5.4) % and 0 (P=0.683) , respectively. The OS and PFS of patients with low-intermediate risk group were significantly higher than the other group. Conclusion: Auto-HSCT could improve the survival of T-LBL. Pre-transplant status and IPI score are important predictors for survival T-LBL patients with auto-HSCT.
Adolescent ; Adult ; Child ; Disease-Free Survival ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy* ; Prognosis ; Retrospective Studies ; T-Lymphocytes ; Transplantation, Autologous ; Treatment Outcome ; Young Adult

Objective:To compare the consistency and detection capability of seven 2019-nCoV nucleic acid detection kits, and provide reference for detection method selection of clinical laboratory and diagnosis of new coronavirus pneumonia.Methods:Two batches of pharyngeal swab samples were collected from tenpatients with confirmed infection of 2019-nCoV and 10 suspected patients with negative 2019-nCoV test results during January 29 to February 5, 2020 in Shenzhen Luohu People′s Hospital. Seven kinds of kits were labeled as ato g and used for nucleic acid detection respectively to evaluate the consistency of the test results of the clinical samples. A 2019-nCoV positive specimen was selected and diluted to 5-concentration gradient plates (Level-1 to 5) with RNase-free water. The positive detection rate and intra-batch repeatability of different brands of kits were compared.Results:The negative and positive coincidence rates of twenty clinical samples tested by six kinds of kits were 100%, and the positive and negative coincidence rate was 8/10 and 10/10 for the other kit, respectively. The results of intra-batch repeatability showed the CVs of viral loads tested by these seven kits were all less than 5%. In the concentration range of Level-1 to 3, the detection capability for open reading frame (ORF)1ab gene of Kit b,d and f was lower than Kit a,c,e and g, and the detection capability of kit e and g was the highest (14/15). The detection capability for N gene of Kit a (15/15) was higher than the other 5 kits. The comprehensive analysis of the detection capability for ORF1ab and N gene showedthat Kit d had the lowest detection capability (ORF1ab:40%,N:53%), and there was no significant difference in the detection capability of Kit a, b, c, e, and f.Conclusions:There was no significant difference in the accuracy and repeatability of the seven kits for positive samples with high viral loads, and the detection performance was good; but some kits had poor detection capability for weak positive samples. It is suggested that the weak positive samples should be rechecked by at least two manufacturers′ kits to ensure the accuracy of the results.

Purpose To investigate the value of application of D2-40/CD34-CK cocktail antibodies by double immunohistochemical staining for assessment of lymphovascular invasion (LVI) and to determine its prognostic significance in colorectal cancer with insufficient lymph node harvest. Methods Specimens from 133 cases of colorectal cancer with less than 12 lymph nodes were selected. HE staining and double immunohistochemical staining of the cocktail antibodies were performed to compare the difference of the two methods in screening for LVI. The The relationship between LVI confirmed by cocktail antibody immunohistochemical staining and clinicopathological characteristics and overall survival (OS) of patients was analyzed. Results (1) The detection rates of cocktail antibody double immunohistochemical staining and HE staining for LVI were 42.9％ (57/133) and 21.8％ (29/133) with statistically significant difference (P < 0.001). (2) The presence of LVI confirmed by double staining was significantly associated with Dukes staging, depth of invasion, clinical stages, lymph node metastasis and tumor budding (P < 0.05). (3) The presence of LVI, the location and extent of LVI, and the number of tumor cells in thrombus ≥5.5 for cases with LVI ≤2 clusters, were significantly associated with OS (P < 0.05). Conclusion D2-40/CD34-CK cocktail antibodies double staining is superior to routine HE staining in assessing LVI. LVI is intimately associated with tumor stage, lymph nodes metastasis and tumor budding, and it is an independent prognostic factor for CRC patients. It should be a supplementary examination for these patients with insufficient lymph node harvest.

Objective:To investigate the effects of sling exercise therapy combined with Kinesio Taping on the balance and walking for stroke patients. Methods:From October, 2017 to August, 2018, 66 patients after stroke were randomly divided into routine group (n = 22), sling group (n = 22) and combined group (n = 22). All the groups accepted routine rehabilitation, while the sling group accepted sling exercise therapy based on routine group and the combined group accepted sling exercise therapy and Kinesio Taping. They were assessed with Berg Balance Scale (BBS) and Fugl-Meyer Assessment-Lower Extremities (FMA-LE), and their gait parameters were measured with Motion Analysis, before and four weeks after treatment. Results:There were obvious improvements in the BBS score, FMA-LE score and gait parameters in all the groups after treatment (P < 0.05), and it was ranked from better to worse as the combined group, the sling group and the routine group (P < 0.05). Conclusion:Sling exercise therapy combined with Kinesio Taping may further improve balance and walking for stroke patients.

GM1 gangliosidosis is an autosomal recessive disorder caused by galactosidase beta1 (GLB1) gene variants which affect the activity of β-galactosidase (GLB). GLB dysfunction causes abnormalities in the degradation of GM1 and its accumulation in lysosome. This article reports the clinical and genetic features of a child with GM1 gangliosidosis. The girl, aged 2 years and 5 months, was referred to the hospital due to motor developmental regression for more than one year. Physical examination showed binocular deflection and horizontal nystagmus, but no abnormality was found on fundoscopy. The girl had increased muscular tone of the extremities, limitation of motion of the elbow, knee, and ankle joints, and hyperactive patellar tendon reflex. Blood biochemical examination showed a significant increase in aspartate aminotransferase. The 24-hour electroencephalographic monitoring detected frequent seizure attacks and diffuse θ wave activity, especially in the right hemisphere. Head magnetic resonance imaging showed thinner white matter in the periventricular region and diffuse high T2WI signal with unclear boundary. Three-dimensional reconstruction of white matter fiber tracts by diffusion tensor imaging showed smaller and thinner white matter fiber tracts, especially in the right hemisphere. Genetic analysis showed that the girl had compound heterozygous mutations of c.446C>T (p.Ser149Phe) and c.101T>C (p.Ile34Thr) in the GLB1 gene from her parents, among which c.101T>C (p.Ile34Thr) had not been reported in the literatures. The girl was finally diagnosed with GM1 gangliosidosis. Her conditions were not improved after antiepileptic treatment and rehabilitation training for 2 months.
Diffusion Tensor Imaging ; Female ; Gangliosidosis, GM1 ; genetics ; Humans ; Infant ; Mutation ; Virulence ; beta-Galactosidase ; genetics

Objective:to explore the effect of nano-carbon tracer on the dissection of central group lymph nodes in thyroid cancers.Methods:60 patients with thyroid cancers enrolled from January 2015 to December 2015 in our hospital were selected as research objects.Tracing group contained 30 cases would carry out nano-carbon tracer for the dissection of lymph nodes,while the other 30 patients without using nano-carbon tracer were defined as control group.The number of dissected lymph nodes,the discovery rate of positive lymph nodes and the postoperative parathyroid function were made a comparison between the two groups.Results:the total number of dissected lymph nodes in the tracing group was more than the control group (269 vs 204).The average number of dissected lymph nodes in the tracing group (8.97 ± 1.65/case) was also significantly more than the control group(6.8 ± 1.52/case)(P＜0.05).In the tracing group,the total discovery rate of positive lymph nodes was 40.15％,while the control group was 37.25％.Therefore,the average number of dissected positive lymph nodes in the tracing group (3.6 ± 1.16/case) was significantly more than the control group (2.53 ± 1.17/case)(P＜0.05).Observation of the postoperative adverse reactions,there were fewer patients suffering hypocalcemia or recurrent laryngeal nerve injury in the tracing group compared to the control group.In detail,although the blood calcium levels on the 2nd day after operation in both two groups decreased compared with preoperative baseline values,significantly statistical difference was only observed in the control group with 2.173 ±0.20mmol/L in postoperation vs 2.28 ± 0.06mmol/L in pre-operation (P＜0.05).What's more,the blood calcium level in the tracing group on the 2nd day after operation (2.27 ± 0.19mmol/L) was significantly higher than the control group (2.173 ± 0.20mmol/L)(P＜0.05).Besides,the postoperative PTH levels in both two groups reduced in some degree compared to the preoperative baseline values,but there were no statistical differences (P＞0.05).Conclusion:using nano-carbon tracer during the operation would be benefit for the dissection of positive central group lymph nodes,the recognition of parathyroid glands and reduction of postoperative adverse reactions.

OBJECTIVETo investigate the correlation of microRNA-155 (miR-155) expression with clinicopathological features of patients with papillary thyroid carcinoma (PTC) and explore the value of miR-155 in prognostic assessment of PTC.

METHODSWe collected 86 pairs of fresh PTC and adjacent tissues to examine the expression of miR-155 using fluorescent quantitative PCR. miR-155 expressions in the tissues were analyzed in relation to the clinicopathological features of the patients.

RESULTSCompared with the paired adjacent tissues, 69.8% (60/86) of the PTC tissues showed up-regulated miR-155 expression by 2.63∓2.73 folds. Up-regulated miR-155 expressions were associated with a larger tumor size (1.66∓0.96 vs 1.19∓0.52 cm, P=0.021), a higher likeliness of extrathyroid invasion (56.7% vs 23.1%, P=0.004), a higher rate of lymph node metastasis (70% vs 46.2%, P=0.036), a more advanced TNM stage, and a higher rate of III-IV stage of the tumor (20% vs 0%, P=0.014). The expression level of miR-155 in PTC tissues was positively correlated with lymph node metastasis (r=0.531, P=0.001).

CONCLUSIONPTC patients with miR-155 over-expression tend to have a greater tumor size, a greater likeliness of extrathyroid involvement, a higher rate of cervical lymph node metastasis and a more advanced TNM stage. The high expression of miR-155 in the tumor may indicate a poor prognosis of PTC patients.

Carcinoma, Papillary ; genetics ; Humans ; Lymph Nodes ; pathology ; Lymphatic Metastasis ; MicroRNAs ; genetics ; Neck ; Prognosis ; Thyroid Neoplasms ; genetics ; Up-Regulation

Objective To explore the protection and molecular mechanism of histone deacetylase inhibitors (HDACIs) on the spleen of rats with hemorrhagic shock. Methods A total of 60 SPF male SD rats were selected for the modeling of severe hemorrhagic shock using the method of arterial and venous cannulation with the time-divided bleeding. The measurement of mean arterial blood pressure and blood lactic acid was used to verify the modeling. The modeled rats were randomly divided into shock group, shock + suberoylanilide hydroxamic acid (SAHA) group, shock + autogenous transfusion group and shock + SAHA + autogenous transfusion group. Three hours after the treatment, the spleen of rats was collected and TUNEL method was employed to detect the apoptosis of spleen cells in each group. The statistical analysis was performed. Afterwards, real-time PCR and western blot were employed to detect the expression of BCL-2, BAX and caspass3 in the spleen of rats in each group. Results A total of 53 rats had successful modeling of severe hemorrhagic shock, with success rate of 88%. Cell apoptosis in the severe hemorrhagic model group was the most serious. After the intervention of HDACIs and the autogenous transfusion, the tissue injury was a bit recovered. Cell apoptosis was least in the shock + SAHA + autogenous transfusion group (P < 0.05). After the intervention of HDACIs and the autogenous transfusion, the relative expression of BCL-2 was significantly increased (P < 0.05), with highest relative expression of BCL-2 in shock + SAHA + autogenous transfusion group (P < 0.05). After the intervention of HDACIs and the autogenous transfusion, the relative expression of BAX was significantly decreased (P < 0.05), with lowest relative expression of BAX in the intervention group of single HDACIs. The change in the expression of caspass3 was similar to BAX, namely the relative expression of caspass3 was significantly decreased after the intervention of HDACIs and the autogenous transfusion (P < 0.05). Conclusions HDACIs and autogenous transfusion can all protect the spleen injury because of the severe hemorrhagic shock. Its molecular mechanism may be related to the regulation on the expression of BCL-2/BAX and caspass3, which may affect the apoptosis process of cells.