Objective:To evaluate the clinical efficacy of C-type endoscopic submucosal dissection (C-ESD) for rectal neuroendocrine tumors (NEN).Methods:The retrospective analysis was performed on data of 55 patients who underwent ESD for rectal NEN at the Department of Endoscopy in Quanzhou First Hospital from January 2018 to July 2021. Patients were divided into the C-ESD group ( n=28) and the conventional ESD group ( n=27). The dissection time, the dissection speed, the number of submucosal injections, the enbloc resection rate, the curative resection rate and the rate of postoperative complications of the two groups were compared. Results:There were no statistically significant differences in basic information between the two groups ( P>0.05). The dissection time was 13.8±4.2 min in the C-ESD group and 19.9±3.9 min in the conventional ESD group with statistically significant difference ( t=5.649, P<0.001). The dissection speed in the C-ESD group was 0.08±0.04 cm 2/min, which was faster than 0.06±0.04 cm 2/min in the conventional ESD group ( t=2.218, P=0.031). The number of submucosal injections in the C-ESD group was less than that in the conventional ESD group [2 (1, 2) VS 3 (2, 3), Z=-8.701, P<0.001]. The lesions were enbloc resected in both groups. The curative resection rate in the C-ESD group was 100.0% (28/28) and 88.9% (24/27) in the conventional ESD group with statistically significant difference ( P=0.011). There were 7 cases of postoperative complications in the conventional ESD group, including 1 delayed bleeding, 5 delayed perforation and 1 muscularis propria injury, while no postoperative complications occurred in the C-ESD group ( P=0.004). Conclusion:C-ESD is a safe and effective treatment strategy for colorectal NEN, which can shorten the dissection time, improve the dissection speed, reduce the number of submucosal injections, improve the curative resection rate, and reduce complications.

Objective:To analyze the relationship between hematological and genotype characteristics of fetuses and patients with hemoglobin (Hb) H disease and their natural disease progression.Methods:From 2010 to 2022, a total of 1 252 blood samples from fetuses and patients with Hb H disease who visited the Guangxi Zhuang Autonomous Regional Maternal and Child Health Hospital were collected (including 174 umbilical cord blood samples, 1 062 peripheral blood samples from patients over 2 years old, and 16 peripheral blood samples from patients with rare cases of genotype Hb H). Additionally, 278 peripheral blood samples were collected from patients aged 0 - 2 years old with Hb H 3.7, Hb H 4.2, Hb H CS, and Hb H WS disease for the study of trends in red blood cell development. Multiple probe hybridization and microarray comparative genomic hybridization technology combined with first-generation Sanger sequencing were used for rare mutation detection.Results:Among the 1 062 Hb H disease patients over 2 years old, 62.34% (662/1 062) had gene deletion (--/-α), of which Hb H 3.7 (-- SEA/-α 3.7) and Hb H 4.2 (-- SEA/-α 4.2) were the most common, accounting for 42.28% (449/1 062) and 19.11% (203/1 062) of the total, respectively. Among the non-deletion genotypes (--/αα T or α Tα/αα T), Hb H CS (-- SEA/α CS), Hb H WS (-- SEA/α WS) and α CSα/α CSα accounted for 16.85% (179/1 062), 16.48% (175/1 062) and 1.98% (21/1 062), respectively. The 81.12% (537/662) of patients with deletional Hb H disease showed mild to moderate anemia, with Hb H detection rates ranging from 75% to 80%. Among non-deletional Hb H disease, Hb H WS disease showed the mild (blood Hb concentration > 95 g/L in 90% of patients) phenotype while Hb H CS and Hb H QS (-- SEA/αα QS) patients had moderate to severe anemia, with Hb H detected in peripheral blood at higher levels than in other types of Hb H disease patients. Except for Hb H CS and Hb H QS, which did not show a significant increase in Hb A2 levels when complicated with β-thalassemia, Hb A2 levels were increased (> 3.5%) in all other types of Hb H disease patients. When Hb H disease was complicated with β-thalassemia, Hb H peaks were not detected in either type of Hb H disease. The results of red blood cell development trend detection showed that erythrocyte counts were elevated in patients with Hb H disease compared to their normal counterparts; whereas, blood Hb, mean erythrocyte volume (MCV) and mean erythrocyte hemoglobin content (MCH) were lower than in their normal counterparts ( P < 0.05) and decreased to the minimum at 6 months to 1 year of age. Patients with Hb H CS disease, as the most severe form of anemia, had the highest MCV values ( P < 0.001). The results of fetal cord blood with Hb H disease showed that α CSα/α CSα caused severe intrauterine anemia, followed by Hb H QS and Hb H CS. The content of Hb Bart's in umbilical cord blood was negatively correlated with the severity of anemia ( rs = - 0.58, P < 0.001). When Hb H disease was complicated with β-thalassemia, there was no significant improvement in fetal anemia, and the Hb Bart's content did not change significantly ( P > 0.05). In addition, Hb H 21.9 (-α 21.9kb/-- SEA) and Hb H 2.4 (-α 2.4/-- SEA) were common in patients with deletion rare Hb H. In patients with non-deletion rare Hb H, αα Amsterdam-A1/-- SEA and αα Hb G-Georgia/-- SEA were both first reported. Conclusions:There is heterogeneity in clinical manifestations of patients with different types of Hb H disease or same type of Hb H disease at different developmental stages. When patients with Hb H are complicated with β-thalassemia, the phenotype of patients with the deletion type is improved, while that of patients with the non-deletion type is not. Compared to normal individuals, patients with Hb H disease have lower blood Hb concentration, MCV and MCH, and more rapid physiological changes in red blood cells.

Objective:To detect the status of PIK3CA in triple-negative breast cancer (TNBC) , and to analyze the relationships between PIK3CA mutation and clinical features and its impact on prognosis.Methods:From January 1, 2016 to December 31, 2018, 50 patients with primary TNBC admitted to Xinxiang Central Hospital of Henan Province were collected. The PIK3CA mutation status was detected, and the relationships between PIK3CA mutation and clinical characteristics of patients with TNBC and its impact on prognosis were analyzed.Results:PIK3CA gene mutation was detected in 9 of 50 TNBC patients, with a mutation frequency of 18.0%. H1047R mutation was found in 4 cases, E545K mutation in 3 cases and E542K mutation in 2 cases. PIK3CA gene mutation was not associated with age ( χ2=3.55, P=0.060) , tumor location ( χ2=1.01, P=0.315) , tumor size ( χ2<0.01, P>0.999) , lymph node status ( χ2=0.76, P=0.385) , clinical stage ( χ2=0.65, P=0.420) , Ki-67 value ( χ2<0.01, P>0.999) , P53 status ( χ2=0.02, P=0.894) and human epidermal growth factor receptor-2 (HER-2) status ( χ2=1.65, P=0.200) . Prognostic analysis showed that 3-year disease-free survival rates of wild-type PIK3CA patients was significantly higher than that of mutant PIK3CA patients (80.5% vs. 11.1%, χ2=28.23, P<0.001) . Conclusion:The frequency of PIK3CA gene mutation is higher in TNBC patients. There is no correlation between PIK3CA mutation and clinicopathologic features in TNBC patients. PIK3CA gene mutation may be significantly associated with poor prognosis of TNBC patients.

Background: Different views have been proposed on the radiofrequency treatment modes and parameters of radiofrequency thermocoagulation of the spinal dorsal root ganglion for the treatment of postherpetic neuralgia (PHN). It is urgent to identify a more effective therapy for patients with PHN. Methods: Patients who underwent radiofrequency thermocoagulation therapy for PHN were retrospectively reviewed and were divided into a radiofrequency thermocoagulation (CRF) and double neddles radiofrequency thermocoagulation (DCRF).The pain scores (numerical rating scale, NRS) were evaluated at the following time points: before the operation, 1 day, 3 months, 6 months, 1 year, and 2 years after operation. The incidence of complications and the degree of pain relief were evaluated. The in vitro ovalbumin experiment was used to indicate the effects of radiofrequency thermocoagulation. Results: Compared with the preoperative NRS scores, the postoperative NRS scores decreased significantly; the NRS scores of the DCRF group was lower than that of the CRF group at all time points from 6 months to 2 years following the operation. The total effective rate of the DCRF group was significantly higher than that of the CRF group at 2 years following the operation. The incidence of numbness in the DCRF group was higher than that noted in the CRF group. The ovalbumin experiments in vitro indicated that the effects of radiofrequency thermocoagulation were optimal when the distance between the two needles was 5 mm. Conclusions DCRF with a 5 mm spacing exhibits a longer duration and higher effective rate in the treatment of PHN and is worth promoting.

Objective:To establish a screening system of adult Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) by fluorescence in situ hybridization (FISH) .Method:Based on the genetic characteristics of Ph-like ALL, FISH probes were designed for ABL1, ABL2, JAK2, EPOR, CRLF2, CSF1R, PDGFRB, and P2RY8 gene breakpoints, which were used to screen Ph-like ALL in B-ALL patients without BCR-ABL1, ETV6-RUNX1, MLL, and E2A gene arrangement. Furthermore, it was analyzed in combination with flow immunophenotype, next-generation sequencing for targeted gene mutations, and RNA sequencing (RNA-seq) .Results:A total of 189 adult B-ALL patients diagnosed in Nanfang Hospital from January 2016 to April 2019 were enrolled in this study. Using FISH and/or PCR, BCR-ABL1, ETV6-RUNX1, MLL, or E2A arrangement was detected in 83 of them, and Ph-like ALL was detected by FISH in the other 106, resulting in the presence of typical gene arrangements of Ph-like ALL in 12 patients (11.3% , 12/106) . Validated by RNA-seq, the sensitivity and specificity of FISH for Ph-like ALL were 71.4% and 95.8% , respectively. After further analysis with immunophenotype, targeted gene mutations, and RNA-seq, 14 (13.2% , 14/106) were diagnosed with Ph-like ALL.Conclusion:This data shows high specificity of FISH for identification of Ph-like ALL and combining immunophenotype and sequencing technology can improve the diagnostic system.

Objective To explore the clinic utility of Hb A level in neonatal cord blood screening for β‐thalassemia .Methods A total of 1 599 neonatal cord specimens whose parents were carriers of β‐thalassemia prenatal diagnosised by routine molecular genet‐ic were collected by cordocentesis .These samples were analyzed by the capillary electrophoresis system (Sebia) .Results Among 1 599 fetuses ,186 were diagnosed as β‐thalassemia carriers ,68 were β‐thalasseima intermedia/major .ROC analysis demonstrated that the optimal cutoff value for identifying β‐thalassemia carrier from the Hb A level was 5 .15% (sensitivity = 83 .9% , specificity = 82 .3% ) ,and that was 3 .2% for β‐thalasseima intermedia/major (sensitivity = 100 .0% ,specificity = 99 .4% ) .Conclu‐sion The Hb A level of cord blood was an effective marker to screen the β‐thalassemia for fetuses and is therefore well‐suited for clinical diagnostic use .

Objective To investigate the occurrence of regular and rare types of beta thalassemia in Guangxi,and to reduce the misdiagnosis and missed diagnosis.Methods Between Jan 2010 and Dec 2013,42 770 patients (20 740 males and 22 030 females,one month to fifty-four years old) from Maternal and Child Healthy Hospital of Guangxi,who were suspected with thalassemia were involved in this study.All these patients were went through the following screening tests:routine blood cell count,hemoglobin electrophoresis test,and serum iron and ferritin tests.Positive patients in the screening test would be taken gene diagnosis with regular reverse dot blot (RDB) method; negative patients in gene diagnosis but positive in the screening test would be under the test of beta globin gene sequencing.Results Totally 28 101 patients were confirmed with thalassemia from 42 770 suspected patients,including 10 891 patients with beta thalassemia,49 patients were homozygous,10 718 patients were heterozygote,and 124 patients were compound heterozygous.After beta globin gene sequencing test,14 regular mutations in people of south China and 7 rare types mutations were detected,the detection rate of rare type of beta thalassemia was 17.949％ (7/39).Conclusions Mutation spectrum of beta thalassemia in Guangxi is complex.Gene diagnosis of rare type thalassemia needs to be done in patients with phenotypes of thalassemia and negative of regular gene diagnosis,in order to reduce misdiagnosis,and improve accuracy of clinical diagnosis.

OBJECTIVETo analyze the detection rate and gene distribution characteristic of deletional α-thalassemia in Guangxi area, and to provide theoretic basis for thalassemia gene diagnosis and genetic counseling.

METHODSThe regular gene diagnosis of 3 types of α-thal (-- (SEA),- α(3.7),- α(4.2)) was performed by gap-PCR, multiple ligation probe and gene sequencing for globin α or β were used to detect those samples whose genotype and phenotype were not consistent. And the distribution characteristic of α-thalassemia gene in Guangxi area was then analyzed.

RESULTSOut of 51 191 suspected thalassemia patients, there were 19 853 cases of deletional a-thalassemia, accounted for 39.9% in total positive rate, including 19 780 cases of regular types(--(SEA), - α(3.7), - α(4.2)), 61 cases of Thailand-type deletion, 9 cases of triplet type (Hong Kong) (ααα(HK)), 1 case of 21.9 kb deletion type and 2 cases of 809 bp deletion type.

CONCLUSIONTypes of deletional a-thalassemia were complex and accounted for large proportion in Guangxi area. Special gene diagnoses were needed for those couples whose genotype and phenotype were not consistent, in order to provide reliable basis for genetic counseling and prenatal diagnosis.

China ; Genotype ; Humans ; Phenotype ; Polymerase Chain Reaction ; Sequence Deletion ; alpha-Thalassemia ; genetics

OBJECTIVETo analyze the status and genotypes of Hb H disease in GuangXi area.

METHODSHuman genomic DNA of 50 377 suspected thalassemia patients was extracted from blood, amniotic fluid and chorionic villi by beads. The deletion of α-thalassemia was detected by Gap-PCR, and the gene mutation of α or β-thalassemia was detected by PCR- RDB. Performing multiplex ligationdependent probe amplification detection and gene sequencing in α or β-globin for the specimens in question.

RESULTSThere were 1 571 Hb H disease patients in total from 2011 to 2013, and the detection rates were 2.82%, 3.54% and 3.00% respectively. The vast majority of patients had the Southeast Asian deletion (--(SEA)) on one allele. The - α³·⁷ (rightward) deletion was the most common on the other allele, followed by Hb Constant Spring (Hb CS), the -α(4.2) (leftward) deletion, Hb Westmead (Hb WS) and Hb Quong Sze (Hb QS) mutations. There were 33 Hb H disease patients which genotypes was α(CS)α/α (CS)α. Five patients had THAI deletion(--(THAI)) with deletion or point mutation of α-thalassemia. 95 patients had concomitant β-thalassemia (β-thal) heterozygosity. Tere was a novel genotype of --(SEA)/-α²¹·⁹ causing Hb H disease.

CONCLUSIONGuangXi area had a high accidence of Hb H disease, the results reflected the genetic diversity and genetic heterogeneity of Hb H disease, the latter may also occur new mutations or combined β-thalassemia, some effective measures should be taken to strengthen screening efforts to prevent underdiagnosis of Hb H disease.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; China ; Female ; Genotype ; Humans ; Infant ; Infant, Newborn ; Male ; Young Adult ; alpha-Thalassemia ; genetics

Multiple myeloma (MM) is a malignant tumor of plasma cells that remains incurable.More attentions have been lately directed to the immunotherapy,which has proven benefits in eradicating minimal residual disease of MM,reducing relapse and improving patients' overall survival.Mucin 1 (MUC1) is a tumor associated antigen of MM,and has attracted increasing interest as a potential target for MM immunotherapy.In addition,MUC1-based vaccines have quickly entered human clinical trials,and some promising responses have been reported.Here,an up-to-date review of MUC1-based immunotherapy of MM is given.