Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 8 ; Humans ; Myeloproliferative Disorders ; Receptor, Fibroblast Growth Factor, Type 1 ; Translocation, Genetic

OBJECTIVETo identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree.

METHODS14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing.

RESULTSA nonsense mutation c.447G > A was found in exon 4 of ENG gen of the pedigreee, resulting in change of Trp 149 into Stop, while no gene mutation was found in ALK1 gene.

CONCLUSIONThe hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.

OBJECTIVE: To investigate the clinical efficacy of R-EDOCH protocol in the treatment of newly diagnosed double expression lymphoma. METHODS: The clinical data of 51 patients with newly diagnosed double expression lymphoma treated by R-EDOCH protocol were retrospectively analyzed in the period from May 2012 to October 2017, then overall remission rate (ORR), disease control rate (DCR), progression-free survival (PFS) rate and total survival (OS) rate were evaluated; moreover the patients were grouped according to IPI score and whether accepting hematopoietic stem cell transplantation(HSCT) and the clinical efficacy was compared. RESULTS: The ORR was 96.08% (49/51) and DCR was 100.00% (51/51) in all patients. Six cases out of 51 patients (11.76%) relapsed and progressed during the followed-up. The followed-up showed that 2 year-PFS rate and OS rate were 84.31% (43/51) and 94.12% (48/51) respectively. The ORR, SD rate, 2 year-PFS rate and OS rate in the patients with IPI 0-2 and 3-5 scores were no statistically different(p>0.05); the 2 year-PFS and OS rates between patients in subgroup of IPI 0-2 and 3-5 scores also were not statistically different (p>0.05), no matter whether the patients received auto-HSCT or not. The comparison of 2 year-PFS and OS rates in auto-HSCT patients and non-auto-HSCT patients showed no statistical difference(p>0.05). CONCLUSION The R-EDOCH protocol in treatment of newly diagnosed double expression lymphoma possess the good overall clinical efficacy, the combination of R-EDOCH with auto-HSCT displays ascending trend of PFS.
Hematopoietic Stem Cell Transplantation ; Humans ; Lymphoma, Large B-Cell, Diffuse ; Retrospective Studies ; Transplantation, Autologous ; Treatment Outcome

Plunging ranula is rare and manifests as the submandibular or submental cystic mass, without intra-oral abnormality. It usually causes misdiagnosis and malpractice. This article reported a case of plunging ranula that appeared as a massive mass located behind the left ear. A 6-year-old child presented with recurrent left retroauricular swelling over six months without obvious inducement. The mass showed repeatedly swelling and persistent skin ulcers. Physical examinations described a fluctuant, nontender mass behind the left ear whose size was about 5 cm×5 cm×3 cm. The skin upon the surface of the mass was thin and red, and overflowed yellow slimelike contents. Computed tomography (CT) showed an extensive cystic lesion in the left neck. After local incision and drainage the mass was shrink. With the primary clinical diagnosis of branchial cyst, the patient underwent mass resection through postauricular incision. During the operation, the fistula was traced to the area around the sublingual gland, and the postoperative pathology report demonstrated cystic spaces occurring in soft tissue without lymphoid tissue. One month postoperatively, the patient presented the "egg-white", wire-drawing transparent viscous fluid outflowing from the left external auditory canal, indicating that the fluid in the external auditory canal originated from the sublingual gland and the disease was the plunging ranula presenting as a giant left retroauricular mass. We readmitted the patient to the hospital and the ipsilateral sublingual gland was completely removed in the mouth under general anesthesia. No clinical evidence of recurrence was found at the end of 9 months follow-up. So far, there is no literature reporting plunging ranula behind ear. This case report describes the clinical manifestation, diagnosis, and differential diagnosis and treatment of a case of plunging ranula, and reveals that, other than the submandibular or submental, plunging ranula also could be found in retroauricular region. The plunging ranula is difficult to fully confirm through a clinical character, and usually easy to be misdiagnosed as other tumors, like lymphatic malformation, venous malformations, etc. Radiographic examination and/or puncture fluid observation are required for identification. "Egg-white", wire-drawing mucous secretion is the most important characteristic in clinical diagnosis of sublingual gland cyst. However, if sublingual gland resection, i.e. removal of the source of cyst fluid is performed, a good prognosis can be achieved.
Child ; Humans ; Neoplasm Recurrence, Local ; Ranula ; Salivary Gland Diseases ; Sublingual Gland ; Tomography, X-Ray Computed

OBJECTIVE: To investigate the effect and mechanism of artesunate (ARTS) combined with cytarabine(Ara-C) and/or daunorubicin (DNR) on the proliferation and apoptosis of MV4-11 human mixed-lineage leukemia rearranged（MLL-r） acute myeloid leukemia (AML) cell line. METHODS: CCK-8 assay was used to detect the proliferation effect of individual or in combination of ARTS, DNR, Ara-C on MV4-11 cells. The IC₅₀ of ARTS, DNR and Ara-C was calculated separately. The cell apoptosis and expression of receptors DR4 and DR5 were detected by flow cytometry. Western blot was used to detect the expression of Caspase-3 and Caspase-9 in each groups. RESULTS: The inhibition effect of ARTS, Ara-C and DNR on the proliferation of MV4-11 were all dose-dependently (r=0.99, 0.90 and 0.97, respectively). The IC₅₀ of ARTS, Ara-C and DNR on MV4-11 for 48 hours were 0.31 μg/ml, 1.43 μmol/L and 22.47 nmol/L, respectively. At the dose of ARTS 0.3 μg/ml， Ara-C 1.0 μmol/L and DNR 15 nmol/L, the proliferation rate for 48 hours of the tri-combination treatment was significantly lower than that of the bi-combination treatment, while both were significantly lower than that of the individual treatment (all P＜0.05). In terms of bi-combination treatment, the cells proliferation rate for 48 hours of the ARTS+Ara-C group was significantly lower than that of the ARTS+DNR group, while both were significantly lower than that of the Ara-C+DNR group (all P＜0.05). The cooperativity index (CI) of bi- and tri-combination treatment were all less than 1. After 48 hours of drug action, the cell apoptosis rate of the ARTS+DNR+Ara-C group was significantly higher than that of the Ara-C+DNR group, while both were significantly higher than that of the ARTS+DNR group (all P＜0.05). Meanwhile, the was no statistical difference between the cells apoptotic rate of the ARTS+DNR+Ara-C group and the ARTS+Ara-C group (P>0.05). The expression of DR4 and DR5 also showed no difference between control group and drug group. Compared with the DNR+Ara-C group, the expressions of Caspase-3 were significantly down-regulated in both the ARTS+DNR+Ara-C group and the ARTS+Ara-C group (all P＜0.05). The down-regulation of Caspase-3 expression was the most significantly in the combination group of three drugs, while the Caspase-9 expressions in different groups showed no apparent change. CONCLUSION The in vitro study showed that tri-combination of ARTS+Ara-C+DNR and bi-combination of ARTS+Ara-C could inhibit the proliferation and promote apoptosis of MV4-11 cell line. The inhibition effect of these two combinations were significantly superior to that of the traditional Ara-C+DNR treatment. The mechanism underlying this finding may be identified by the down regulation of Caspase-3, while no altered expression was observed of Caspase-9, DR4 and DR5.
Humans ; Cytarabine/pharmacology* ; Daunorubicin/pharmacology* ; Caspase 3 ; Caspase 9 ; Artesunate/pharmacology* ; Leukemia, Myeloid, Acute ; Apoptosis ; Cell Line

OBJECTIVE: To investigate the diagnostic delay of patients with oral squamous cell carcinoma by self-designed questionnaire to find out the significant influencing factors, so as to identify the influencing factors of the patient's delay and the risk of oral cancer. METHODS: A total of 514 patients with primary oral squamous cell carcinoma were enrolled at Peking University School and Hospital of Stomatology from January 2014 to April 2016, including 334 men and 180 women, with a male to female ratio of 1.85:1. The youngest participant was 21 years old, with a maximum of 89 years and a median age of 57.6 years. The position of the disease according to International Classification of Diseases-10 (ICD-10) was divided into lip, buccal, gingival, retromolar, palate, floor of the mouth, tongue, and oropharynx. The age group is divided into 10 years. The level of education was divided into illiteracy, primary education level and advanced education level. Body mass index (BMI) was divided into three levels by 18 kg/m² and 25 kg/m². Visual analog scale (VAS) method was to evaluate the patient's preoperative pain. At the same time, the patients were examined by detailed questionnaire to understand the delay factors and delay characteristics, and use SPSS 18.0 software, analysis of variance and chi-square test to explore correlation. RESULTS: Among all patients, the proportion of patients developed in the tongue was the highest (43.3%). Delay was defined by a span of three months or longer from the onset of symptoms until treatment. The delays to diagnosis according to location were as follows (in months and in descending order): lip (6.1 months), buccal (4.1 months), floor of the mouth (3.9 months), tongue (3.6 months), oropharyngeal (2.9 months), retromolar (2.7 months), palatine (2.4 months), and gingival (2.4 months). Different sites and delayed diagnosis were statistically significant (P=0.048). There were no statistically significant differences in gender, education, pain, smoking, drinking and VAS score. CONCLUSION The study has found that tumor positions and delay have a significant correlation. The position of the tumor is an obvious factor associated with the findings. The lip is the most likely to delay the diagnosis of oral positions. For the lip of the lesion, more than three months' obvious mass is recommended for timely treatment, while at admission, physicians should take the appropriate diagnostic method as soon as possible.
Adult ; Carcinoma, Squamous Cell/diagnosis* ; Delayed Diagnosis ; Female ; Humans ; Male ; Middle Aged ; Mouth Neoplasms/diagnosis* ; Smoking ; Tongue ; Young Adult

OBJECTIVE: To evaluate the diagnostic performance of a non-invasive, non-radiating, economical and convenient infrared thermal imaging in the detection of oral squamous cell carcinoma (OSCC) cervical lymph node metastasis, and evaluate its applicability via parallel test and series test. METHODS: This study was a prospective clinical study which passed the ethical review by the Biomedical Ethics Committee, Hospital of Stomatology, Peking University, and had been submitted for clinical trial registration. Totally 74 OSCC patients who were to undergo a neck dissection were included in this study. The inclusion criteria were patients who: (1) were pathologically diagnosed as malignant tumors and planned to undergo surgical treatment including neck dissection; (2) agreed to participate in this study. The exclusion criteria were those who: (1) had undergone surgeries at head and neck previously; (2) with a history of systemic tumor adjuvant therapies such as radiotherapy or chemotherapy etc; (3) were unwilling or unable to cooperate. Basal information as well as clinical examination results were collected, such as physical examination and contradictive enhanced CT. Besides, infrared thermal imaging was done ahead of surgery. Analysis of the diagnostic power of infrared thermal imaging followed the principles of diagnostic test. The positive signs of infrared thermal imaging were: (1) asymmetric thermographic pattern including vascular pattern in ROI; (2) thickening image of unilateral facial artery/vein, submental artery/vein or external carotid artery; (3) surface temperature of ROI raised over 1 °C compared with the opposite side; (4) changes of neck profile with abnormal temperature pattern. The gold standard of this diagnostic test was pathology diagnosis of cervical lymph nodes. RESULTS: The sensitivity of infrared thermal imaging was 75.0%, while the specificity was 69.0%, accuracy was 71.6%, positive predictive value was 64.9% and negative predictive value was 78.4%. The sensitivity of parallel test which stood for the combination of infrared thermal imaging and conventional clinical examinations was 87.9% while the specificity of series test was 97.6%. CONCLUSION Infrared thermal imaging is a promising non-invasive, non-radiating and economical tool in the detection of cervical lymph node metastasis from OSCC when combined with conventional pre-operative examination.
Carcinoma, Squamous Cell/diagnostic imaging* ; Diagnostic Tests, Routine ; Head and Neck Neoplasms ; Humans ; Infrared Rays ; Lymph Nodes ; Mouth Neoplasms/diagnostic imaging* ; Prospective Studies ; Sensitivity and Specificity

OBJECTIVE: To summarize the pathological characteristics of medication-related osteonecrosis of the jaw (MRONJ) specimens after jaw curettage or jaw osteotomy treatment and to comprehensively analyze the relationship between the different pathological features, treatment methods, and treatment effects to provide new ideas for effective treatment of MRONJ in clinical work. METHODS: The clinical and pathological data were collected from 23 patients with MRONJ who were treated with curettage (18 patients) and jaw osteotomy (5 patients) at the Department of Oral and Maxillofacial Surgery of Peking University Hospital of Stomatology between June 2014 and December 2015. The pathological characteristics of MRONJ were summarized and analyzed with treatment effects based on various surgical treatment methods. The diagnostic criteria and disease staging of MRONJ were determined according to the 2014 American Association of Oral and Maxillofacial Surgeon's Position Paper. RESULTS: In this study, 5 patients have treated with jaw segmental osteotomy, and all of them were in stage Ⅲ; the other 18 patients were treated with jaw curettage, including 5 patients in stage Ⅱ and 13 patients in stage Ⅲ. The pathological features of MRONJ in five cases of jaw segmental osteotomy were divided into three adjacent regions from shallow to deep: inflammation region (IR), sclerosis region (SR), and bone remodeling layer (BRL). Moreover, three types of pathological features of specimens from traditional curettage were defined as type 1 (IR), type 2 (IR + SR), and type 3 (IR + SR + BRL). The pathological features of the patients treated with jaw curettage were: type Ⅰ, 38.9% (7/18); type Ⅱ, 44.4% (8/18); type Ⅲ, 16.7% (3/18). Complete healing was achieved in 5 patients treated with jaw segmental osteo-tomy. Moreover, 2 cases with type Ⅰ, 1 case with type Ⅱ, and 1 with type Ⅲ completely healed after jaw curettage, while 5 cases with type Ⅰ, 7 cases with type Ⅱ, and 2 cases with type Ⅲ experienced recurrence after surgery. CONCLUSION Pathological features of continuous regions of inflammation, sclerosis, and bone remodeling layer were identified from shallow to deep, based on the microscopic observation of jaw segmental osteotomy samples. Insufficient removal of the sclerotic region during jaw curettage that blocks the required blood, nutritional factors, and mesenchymal stem cells seems to be a common cause for failed treatment of MRONJ after curettage surgery.
Humans ; Bisphosphonate-Associated Osteonecrosis of the Jaw/etiology* ; Sclerosis/complications* ; Wound Healing ; Treatment Outcome ; Inflammation/complications* ; Bone Density Conservation Agents/adverse effects* ; Diphosphonates/adverse effects*

Objective: To investigate the prospective association of physical activity with all-cause, cardiovascular disease (CVD), and chronic kidney disease (CKD) mortality in CKD patients in China. Methods: Cox proportional hazard models were used to evaluate the association of total, domain-specific, and intensity-specific physical activity with the risk of all-cause, CVD, and CKD mortality based on data from the baseline survey of China Kadoorie Biobank. Results: During a median follow-up of 11.99 (11.13, 13.03) years, there were 698 deaths in 6 676 CKD patients. Compared with the bottom tertile of total physical activity, participants in the top tertile had a lower risk of all-cause, CVD, and CKD mortality, with hazard ratios (HRs) (95%CIs) of 0.61 (0.47-0.80), 0.40 (0.25-0.65), and 0.25 (0.07-0.85), respectively. Occupational, commuting, and household physical activity were negatively associated with the risk of all-cause and CVD mortality to varying degrees. Participants in the top tertile of occupational physical activity had a lower risk of all-cause (HR=0.56, 95%CI: 0.38-0.82) and CVD (HR=0.39, 95%CI: 0.20-0.74) mortality, those in the top tertile of commuting physical activity had a lower risk of CVD mortality (HR=0.43, 95%CI: 0.22-0.84), and those in the top tertile of household physical activity had a lower risk of all-cause (HR=0.61, 95%CI: 0.45-0.82), CVD (HR=0.44, 95%CI: 0.26-0.76) and CKD (HR=0.03, 95%CI: 0.01-0.17) mortality, compared with the bottom tertile of corresponding physical activity. No association of leisure-time physical activity with mortality was observed. Both low and moderate-vigorous intensity physical activity were negatively associated with the risk of all-cause, CVD and CKD mortality. The corresponding HRs (95%CIs) were 0.64 (0.50-0.82), 0.42 (0.26-0.66) and 0.29 (0.10-0.83) in the top tertile of low intensity physical activity, and the corresponding HRs (95%CIs) were 0.63 (0.48-0.82), 0.39 (0.24-0.64) and 0.23 (0.07-0.73) in the top tertile of moderate-vigorous intensity physical activity. Conclusion: Physical activity can reduce the risk of all-cause, CVD, and CKD mortality in CKD patients.
Humans ; Exercise ; Motor Activity ; Cardiovascular Diseases ; China ; Renal Insufficiency, Chronic

Objective: To describe the distribution characteristics of hypertension among adult twins in the Chinese National Twin Registry (CNTR) and to provide clues for exploring the role of genetic and environmental factors on hypertension. Methods: A total of 69 220 (34 610 pairs) of twins aged 18 and above with hypertension information were selected from CNTR registered from 2010 to 2018. Random effect models were used to describe the population and regional distribution of hypertension in twins. To estimate the heritability, the concordance rates of hypertension were calculated and compared between monozygotic twins (MZ) and dizygotic twins (DZ). Results: The age of all participants was (34.1±12.4) years. The overall self-reported prevalence of hypertension was 3.8%(2 610/69 220). Twin pairs who were older, living in urban areas, married, overweight or obese, current smokers or ex-smokers, and current drinkers or abstainers had a higher self-reported prevalence of hypertension (P<0.05). Analysis within the same-sex twin pairs found that the concordance rate of hypertension was 43.2% in MZ and 27.0% in DZ, and the difference was statistically significant (P<0.001). The heritability of hypertension was 22.1% (95%CI: 16.3%- 28.0%). Stratified by gender, age, and region, the concordance rate of hypertension in MZ was still higher than that in DZ. The heritability of hypertension was higher in female participants. Conclusions: There were differences in the distribution of hypertension among twins with different demographic and regional characteristics. It is indicated that genetic factors play a crucial role in hypertension in different genders, ages, and regions, while the magnitude of genetic effects may vary.
Adult ; Female ; Humans ; Male ; Alcohol Drinking ; Diseases in Twins/genetics* ; Hypertension/genetics* ; Twins, Dizygotic/genetics* ; Twins, Monozygotic/genetics*