Purpose This study aims to analyze the clinical,pathological,and molecular genetic characteristics of nodal follicular helper T-cell lymphoma,follicular type(nTFHL-F).Methods 7 cases of nTFHL-F were re-viewed.Clinical data were collected,tissue morphology was summarized,and immunohistochemical staining and mo-lecular testing were performed.Results The median age of patients was 62 years with a male-to-female ratio of 6:1.The initial symptoms included neck lymphadenectasis in 6 cases and abdominal discomfort in one.Six cases were in ad-vanced stages,while 1 case was in the localized stage.The tumors exhibited a vague,irregular follicular nodular pat-tern,without significant polymorphic inflammatory background or high endothelial vascular proliferation.Five cases showed a progressive transformation resembling germinal center pattern,and two cases exhibited a follicular lymphoma-like growth pattern.Tumor cells presented three distinct morphologies:centrocyte-like appearance,monocytoid B cell-like appearance,and atypical cells with abundant,transparent cytoplasm.Tumor cells expressed at least three follicu-lar T-cell markers.Testing for ITK::SYK gene fusion was negative in all cases(0/7).Next generation sequencing i-dentified mutations in TET2 gene in two cases(2/2),the RHOA gene in one case(1/2),and VAV1 gene in one case(1/2).The follow-up duration ranged from 2 to 64 months,with three deaths(3/7),and a median survival time of 37 months.Conclusion nTFHL-F predominantly occurs in middle-aged to elderly males,presenting with advanced clinical stages,and has a poor prognosis.nTFHL-F is closely associated with nodal follicular helper T-cell lymphoma,angioimmunoblastic type,and mya coexist within the same individual.

Purpose This study aims to analyze the clinical,pathological,and molecular genetic characteristics of nodal follicular helper T-cell lymphoma,follicular type(nTFHL-F).Methods 7 cases of nTFHL-F were re-viewed.Clinical data were collected,tissue morphology was summarized,and immunohistochemical staining and mo-lecular testing were performed.Results The median age of patients was 62 years with a male-to-female ratio of 6:1.The initial symptoms included neck lymphadenectasis in 6 cases and abdominal discomfort in one.Six cases were in ad-vanced stages,while 1 case was in the localized stage.The tumors exhibited a vague,irregular follicular nodular pat-tern,without significant polymorphic inflammatory background or high endothelial vascular proliferation.Five cases showed a progressive transformation resembling germinal center pattern,and two cases exhibited a follicular lymphoma-like growth pattern.Tumor cells presented three distinct morphologies:centrocyte-like appearance,monocytoid B cell-like appearance,and atypical cells with abundant,transparent cytoplasm.Tumor cells expressed at least three follicu-lar T-cell markers.Testing for ITK::SYK gene fusion was negative in all cases(0/7).Next generation sequencing i-dentified mutations in TET2 gene in two cases(2/2),the RHOA gene in one case(1/2),and VAV1 gene in one case(1/2).The follow-up duration ranged from 2 to 64 months,with three deaths(3/7),and a median survival time of 37 months.Conclusion nTFHL-F predominantly occurs in middle-aged to elderly males,presenting with advanced clinical stages,and has a poor prognosis.nTFHL-F is closely associated with nodal follicular helper T-cell lymphoma,angioimmunoblastic type,and mya coexist within the same individual.

Objective The objective of this study was to analyze the 2021 global burden of disease database assessment of deaths and disability-adjusted life year(DALY)attributed to alcohol exposure induced malignant tumors in China,providing a scientif-ic basis for the prevention and control of alcohol exposure-related malignancies in China.Methods The 2021 global burden of dis-ease database were retrieved,analyzed the number of deaths and mortality,DALYs,and DALY rates for malignant tumors in China,and analyzed the mortality and DALY situations attributed to alcohol exposure for different gender and types of tumors.Results In 2021,the number of cancer-related deaths in China was 2.8178 million,accounting for 28.50%of the global total cancer deaths(2.8178 million vs.9.8884 million).The DALYs of malignant tumors in China were 2.8209 million person-year,accounting for 30.20%of the global DALY of malignant tumors(2.8209 million person-year vs.9.3407 million person-year).The mortality of malignant tumors attributed to alcohol exposure in males(12.80/100,000 vs.1.37/100,000)and DALY rate(354.08/100,000 vs.34.96/100,000)were higher than those in females.From the perspective of age distribution,the mortality of malignant tumors caused by alco-hol exposure increased with age,and the DALY rate reached its peak in the 70-year-old age group and then decreased again.The top three tumors with the highest disease burden caused by alcohol exposure were esophageal cancer,liver cancer,and colorectal cancer.Conclusion Alcohol exposure in China leads to a heavier burden of malignant tumor mortality and DALY,with higher in male malig-nant tumor mortality than that in females.Alcohol exposure mainly causes gastrointestinal tumors.The prevention and treatment of male gastrointestinal tumors should focus on alcohol exposure.

Objective The objective of this study was to analyze the 2021 global burden of disease database assessment of deaths and disability-adjusted life year(DALY)attributed to alcohol exposure induced malignant tumors in China,providing a scientif-ic basis for the prevention and control of alcohol exposure-related malignancies in China.Methods The 2021 global burden of dis-ease database were retrieved,analyzed the number of deaths and mortality,DALYs,and DALY rates for malignant tumors in China,and analyzed the mortality and DALY situations attributed to alcohol exposure for different gender and types of tumors.Results In 2021,the number of cancer-related deaths in China was 2.8178 million,accounting for 28.50%of the global total cancer deaths(2.8178 million vs.9.8884 million).The DALYs of malignant tumors in China were 2.8209 million person-year,accounting for 30.20%of the global DALY of malignant tumors(2.8209 million person-year vs.9.3407 million person-year).The mortality of malignant tumors attributed to alcohol exposure in males(12.80/100,000 vs.1.37/100,000)and DALY rate(354.08/100,000 vs.34.96/100,000)were higher than those in females.From the perspective of age distribution,the mortality of malignant tumors caused by alco-hol exposure increased with age,and the DALY rate reached its peak in the 70-year-old age group and then decreased again.The top three tumors with the highest disease burden caused by alcohol exposure were esophageal cancer,liver cancer,and colorectal cancer.Conclusion Alcohol exposure in China leads to a heavier burden of malignant tumor mortality and DALY,with higher in male malig-nant tumor mortality than that in females.Alcohol exposure mainly causes gastrointestinal tumors.The prevention and treatment of male gastrointestinal tumors should focus on alcohol exposure.

OBJECTIVE: To explore the genetic basis for a girl with febrile convulsion as the main manifestation. METHODS: The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family. RESULTS: The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR. CONCLUSION 16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.
Child ; DNA Copy Number Variations ; Epilepsy ; Female ; Humans ; Seizures/genetics* ; Seizures, Febrile/genetics* ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical and genetic characteristics in a girl with 2q37 deletion syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples taken from the patient and her parents, and was subjected to whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq). Candidate CNVs were verified by chromosomal karyotyping analysis and fluorescence quantitative PCR. RESULTS: The child was found to harbor a 6 Mb heterozygous deletion in 2q37 by WES and CNV-seq. The deletion has encompassed 98 genes with a range from GBX2 to LINC01881, and was de novo in origin. The result of fluorescence quantitative PCR was consistent with that of WES and CNV-seq. However, karyotyping analysis has failed to detect the deletion. CONCLUSION The patient was diagnosed with 2q37 deletion syndrome. Combined WES and CNV-seq method features high resolution, high throughput, and high sensitivity, which can significant raise the diagnostic rate for patients with mental disorder, multiple malformations and unknown syndromes.

Objective: To analyze the clinical characteristics and gene mutation of autosomal recessive dopa-responsive dystonia(AR-DRD), and to explore its therapeutic effect, follow-up findings and molecular genetic me-chanism. Methods: The whole exome sequencing, which based on next-generation sequencing, was performed in 6 movement-disordered patients who denied family history at the outpatient clinic of Children′s Hospital Affiliated to Capital Institute of Pediatrics from April 2016 to September 2017.The mutations identified in probands were then confirmed in probands and their parents by Sanger sequencing in order to analyze the cause of mutations. Results: (1)Clinical features: the onset of 6 patients was around infancy, complicated with muscle weakness and abnormal muscle tone.(2)Gene mutation analysis: All 6 patients carried TH gene mutations.Five patients were of complex heterozygosis mutations, 1 patient was of homozygosis mutation.Five mutations were detected: c.605 G>A, c.601 C>T, c.364C>T, c.1412_1413insCCCCCAGGCCGTGC and c. 646G>A.(3)Therapeutic effect: all 6 patients achieved improvement of motor function after dopamine treatment, and they presented the different degrees of improvement in muscle tone and muscle strength. Conclusions The AR-DRD patients who carried c. 605 G>A mutation have a good therapeutic effect treated with L-Dopamine.This mutation may be a common mutation site of mild to moderate defective AR-DRD at home and abroad.The frameshift mutation c. 1412_1413insCCCCCAGGCCGTGC is a new TH gene pathogenicity mutation site discovered by this study.

BACKGROUND: Trabecular metal has been reported to provide enough physiologic support for new bone formation, to induce bone ingrowth and osseointegration so as to achieve the biological synosteosis; therefore, it is available for improving the initial and second stability of the dental implant.OBJECTIVE: To explore the stress distributional differences between porous tantalum trabecular metal (PTTM) dental implant and conventional titanium (TI) dental implant in the zone of mandibular premolar using three-dimensional finite element analysis.METHODS: Three-dimensional finite element models emulating PTTM and TI dental implants were established using Mimics16.0 and CATIA in the zone of mandibular premolar with three types of bone (II, III, IV). Then 100 N force was applied on the abutment at a 45° angle to the vertical axis of the implants in software of MSC Patran2010 and Nastran2010, then the representative von Mises stress nodes were calculated and sampled randomly, and finally the von Mises stress distributional differences between two types of implants were analyzed using SPSS 20.0 statistical software.RESULTS AND CONCLUSION: (1) The Von Mises stresses around the two types of implants both focused on the interface of the cortical bone-abutment-implant region, and the stress was relatively less for the corresponding trabecular bone. (2) If the bone quality was similar, the average von Mises stress of PTTM was higher than that of TI dental implants, but there was no significant difference (P > 0.05). As the bone density lowered (II-IV), the average Von Mises stresses were both increased, and the increasing rate of PTTM was higher than that of TI in bone of II-III, and was lower than that of TI in bone of III-IV. In this experiment, there were no significant stress distributional differences between PTTM and TI dental implant. However, with the bone density reduction, the increasing rate of average Von Mises stress for PTTM was lowered than that for TI dental implants in bone of III-IV, which suggests that PTTM dental implant may be more beneficial for the primary and secondary stability in osteoporosis patients undergoing dental implantation.

Objective To analyze the malignant tumor incidence and mortality in Heilongjiang province in 2013.Methods Tumor registration data of Heilongjiang province cancer registries in 2013 were collected.The malignant tumor incidence and mortality of registration data from 7 cancer registries were analyzed according to the criteria of quality control from National Central Cancer Registry (NCCR).Results The crude incidence rate of cancer in Heilongjiang province was 234.34/105.Age-standardized incidence rates by Chinese standard population (ASIRC) and by world standard population were 153.08/105 and 149.33/105 with the cumulative incidence rate (0-74 years old) of 17.17％.The cancer incidence and ASIRC were 258.42/105 and 157.00/105 in urban areas,whereas in rural areas,they were 190.95/105 and 145.44/105,respectively.The cancer mortality in Heilongjiang province was 147.62/10s.Age-standardized mortality rates by ASIRC and by world standard population were 92.22/105 and 91.41/105 with the cumulative incidence rate (0-74 years old) of 10.44％.The cancer mortality and ASIRC were 171.85/105 and 97.85/105 in urban areas,whereas in rural areas,they were 103.95/105 and 78.48/105,respectively.Lung cancer,breast cancer,liver cancer,colorectal cancer and gastric cancer were the high-incidence cancers in Heilongjiang province.Lung cancer,liver cancer,gastric cancer,colorectal cancer and breast cancer were the most death causes.Conclusion The morbidity and mortality of lung cancer are the highest in Heilongjiang province in 2013.Lung cancer and digestive system malignancies are the most common cancers in Heilongjiang province.Dynamic monitoring tumor morbi-dity and mortality in Heilongjiang province is the basis of the cancer prevention and control work.The active and effective comprehensive control measures should be taken to curb the rising trend of malignant tumor burden.

BACKGROUND:There is a lack of study on material properties and parameters of foot finite element models in China. Vernier caliper is a common method for measuring the width and thickness of ligaments and tendons to calculate the cross-sectional area.
OBJECTIVE:To design a new ligament cross-sectional area measuring instrument to improve the measurement accuracy.
METHODS:The cross-sectional area of the five fresh cadaver ankle ligaments was respectively measured using the new instrument and vernier caliper, and then a comparative analysis of the two measurement methods was performend.
RESULTS AND CONCLUSION:The cross-sectional area of anterior talofibular ligament, calcaneofibular ligament, tibionavicular ligament and calcaneotibial ligament was (20.61±7.52), (22.38±11. 49), (33.09±9.91) and (28.20±10.88) mm2, respectively measured by the vernier caliper, and (17.59±4.03), (20.77±7.91), (28.08±8.14) and (30.39±7.98) mm2 by the new ligament cross-sectional area measuring instrument. These results suggest that this new measuring instrument is accurate, reliable and easy to operate, which can be used as a special instrument to measure ligament cross-sectional area, but further studies wil be necessary.