Oromandibular dystonia (OMD) is a type of Meige syndrome, which is characterized by involuntary repeated abnormal postured contraction of bilateral masticatory muscles, orbicularis oris muscles and mimetic muscles. Involved nerves are buccal branch of facial nerve, mandibular marginal branch and/or mandibular branch of trigeminal nerve. At present, the pathogenesis of OMD is still unclear, and no specific treatment for OMD is noted. This article reviews the pathogenesis, clinical manifestations, classifications, diagnoses, differential diagnoses and treatments of oromandibular dystonia in order to strengthen the understanding of the disease.

Humans ; Aged ; Lung Diseases ; Pneumonia/drug therapy* ; Adrenal Cortex Hormones/therapeutic use* ; Pulmonary Disease, Chronic Obstructive/drug therapy* ; Administration, Inhalation ; Community-Acquired Infections/drug therapy*

OBJECTIVE: To explore the genetic basis for a fetus with dysgenesis of corpus callosum and other brain malformations. METHODS: Whole exome sequencing was carried out for the fetus and its parents. Suspected pathogenic variants were verified by Sanger sequencing. RESULTS: A novel de novo missense variant c.758T>A (p.L253Q) of the TUBB2B gene was identified, which was unreported previously. Based on the guidelines from the American College of Medical Genetics, the c.758T>A variant was predicted to be likely pathogenic. Bioinformatics analysis predicted that the leucine at position 253 was highly conserved among various species, and the c.758T>A variant may impact the formation of hydrogen bonds between Leu253 and Asp249 and Met257 residues, which in turn may affect the combination of GTP/GDP and function of the TUBB2B protein. CONCLUSION The c.758T>A variant of the TUBB2B gene probably underlay the fetal malformations in this Chinese family. Above discovery has enriched the spectrum of TUBB2B gene variants and provided a basis for genetic counseling and prenatal diagnosis.
Brain ; Female ; Fetus/abnormalities* ; Humans ; Malformations of Cortical Development/genetics* ; Pregnancy ; Prenatal Diagnosis ; Tubulin/genetics* ; Whole Exome Sequencing

Objective To investigate the effect of carrimycin on the biological function of pancreatic cancer cells. Methods Pancreatic cancer cell lines MIA PaCa-2, BxPC-3, Panc-1, and PATU 8988 were treated with carrimycin at concentrations of 0 (control group), 2, 4, 8, and 16 μmol/L for 24, 48, and 72 hours. MTT assay was used to measure cell viability; EdU cell proliferation assay was used to observe the effect of carrimycin on DNA replication of pancreatic cancer cells; colony formation assay was used to observe the effect of carrimycin on the proliferation of pancreatic cancer cells; flow cytometry was used to analyze the effect of carrimycin on the cell cycle of pancreatic cancer cells; wound healing assay was used to analyze the effect of carrimycin on the migration of pancreatic cancer cells; Western blot was used to measure the expression levels of the markers such as epithelial-mesenchymal transition (EMT) and cell cycle-dependent protein kinase inhibitor 1A (P21); immunofluorescence assay were used to measure the expression levels of EMT-related markers. An analysis of variance was used for comparison between multiple groups, and the least significant difference t -test was used for further comparison between two groups. Results Compared with the control group, carrimycin significantly inhibited the proliferative activity of MIA PaCa-2, BxPC-3, Panc-1, and PATU 8988 cells in a concentration- and time-dependent manner (all P < 0.01); carrimycin at concentrations of 4, 8, and 16 μmol/L significantly reduced DNA replication in MIA PaCa-2 cells ( t =2.378, 4.984, and 18.970, all P < 0.05) and BxPC-3 cells ( t =4.879, 6.089, and 9.521, all P < 0.01); after treatment with carrimycin at concentrations of 4, 8, and 16 μmol/L, colony formation ability significantly decreased with the increase in drug concentration in MIA PaCa-2 cells ( t =5.889, 11.240, and 15.840, all P < 0.001) and BxPC-3 cells ( t =6.717, 15.800, and 18.850, all P < 0.001). After treatment with carrimycin at concentrations of 4, 8, and 16 μmol/L, there was a significant increase in the proportion of cells in G1 phase in MIA PaCa-2 cells ( t =9.071, 12.280, and 19.360, all P < 0.0001) and BxPC-3 cells ( t =3.061, 4.962, and 8.868, all P < 0.05), and there was a significant reduction in the proportion of cells in S phase in MIA PaCa-2 cells ( t =2.316, 4.165, and 5.562, all P < 0.05) and BxPC-3 cells ( t =2.424, 3.264, and 5.744, all P < 0.05). Western blot further demonstrated that compared with the control group, the expression level of the cell cycle-related protein P21 gradually increased with the increase in the concentration of carrimycin in MIA PaCa-2 cells ( t =5.437, 6.453, and 8.799, all P < 0.001) and BxPC-3 cells ( t =25.130, 44.750, and 52.960, all P < 0.000 1). Wound healing assay showed that after treatment for 12, 24, and 48 hours, carrimycin at concentrations of 0, 4, 8, and 16 μmol/L significantly reduced the lateral migration of MIA PaCa-2 cells (all P < 0.05) and BxPC-3 cells (all P < 0.05). Western blot showed that compared with the control group, carrimycin treatment at concentrations of 4, 8, and 16 μmol/L significantly upregulated the expression of the epithelial marker E-cadherin in MIA PaCa-2 cells ( t =2.388, 4.899, and 5.819, all P < 0.05) and BxPC-3 cells ( t =2.533, 5.836, and 6.774, all P < 0.05) and significantly downregulated the expression of the interstitial marker Snail in MIA PaCa-2 cells ( t =12.440, 14.830, and 16.800, all P < 0.000 1) and BxPC-3 cells ( t=5.039, 5.893, and 7.725, all P < 0.01), and it also significantly downregulated the expression of the interstitial marker Vimentin in MIA PaCa-2 cells ( t =3.105, 7.752, and 11.200, all P < 0.05) and BxPC-3 cells ( t =2.555, 4.883, and 9.153, all P < 0.05). Conclusion Carrimycin can effectively inhibit the proliferation, migration, and EMT process of pancreatic cancer cells, thereby exerting an antitumor biological activity.

Objective:To quantitate the association between birth weight and phenotypes of physical indicators in adulthood, i.e. BMI and waist circumference (WC) and to what degree genetic or environmental factors affect birth weight-obesity association.Methods:A total of 6 623 gender matched twin pairs aged 25 to 79 years were recruited through the Chinese National Twin Registry. The twins reported their own birth weight, current height and weight, and WC using a self-administered questionnaire. BMI was calculated according to the self-reports of body height and weight. Within twin-pair design was used to quantitate the association between birth weight and phenotypes related to obesity while bivariate structural equation models were used to decompose the phenotype correlation.Results:After adjusted for multiple factors, twin-pair analyses within monozygotic (MZ) showed that, on average, a 1.0 kg increase in birth weight corresponded to an increase of 0.33 kg/m 2 in BMI and 0.95 cm in WC in adulthood ( P<0.001). Bivariate structural equation models showed significant positive unique environmental correlation between birth weight and the two obesity-related phenotypes. Conclusion:The study supported the role of twin-specific supply line factors on relationship between birth weight and physical indicators in adulthood.

To examine the risk factors for developing diabetes on its 3-year outcome in an elderly population with impaired fasting glucose (IFG). We selected the 328 elderly with impaired fasting glucose in Binhai new area of Tianjin as the research object. All subjects participated in objective examinations such as physical activity ability tests, blood tests and anthropometric examinations, and completed the questionnaire survey. Between baseline and 3-year outcome, 56 of the subjects with IFG at baseline have developed diabetes. After multivariate adjustments, we found that higher incidence of diabetes was associated with higher fasting plasma glucose (OR=9.30, 95%CI 2.84-30.48, P<0.01) and reduced grip strength/weight (OR=0.88, 95%CI 0.82-0.94, P<0.01). Moreover, the combination of higher fasting plasma glucose and lower grip strength/weight would lead to higher incidence of diabetes compared with higher fasting plasma glucose or lower grip strength/weight alone (P<0.05). In this study, high fasting plasma glucose and low muscle strength were associated with blood glucose worsening in three years in IFG patients. In addition to blood glucose levels, physical activity is also a risk factor for diabetes in older adults.

Background and purpose: The incidence and mortality of lung cancer ranked first in China. This study aimed to describe lung cancer survival in Shanghai, and provide background information for cancer prevention and treatment evaluation. Methods: Data of lung cancer cases diagnosed during 2002-2006, follow-up information and death report were collected from Shanghai Cancer Registry. Life table method and Ederer Ⅱ were used to calculate observed survival (OS) and relative survival (RS) respectively. Related demographic characteristics and status were also analyzed to present the survival situations of the lung cancer survivors in Shanghai. Results: In this study, 41802 lung cancer cases were included in analysis. The 5-year OS and RS for lung cancer were 13.75% and 20.23% respectively, and median survival time was 318 days. Survival rate was higher among females than males, with the 5-year OS of 15.49% and 13.00% respectively. The 5-year OS was higher among suburban residents (14.25%) than urban residents (13.23%). Survival rates decreased with increasing age and advanced stage. Patients aged 0-34 had a 5-year OS of 38.21%, while patients aged above 75 had a 5-year OS of 5.48%. Patients diagnosed with stage Ⅰ had a 5-year OS of 55.47%, while patients diagnosed with stage Ⅳ had a 5-year OS of 5.27%. Survival of lung cancer patients differed by tumor histological subtype. The 5-year OS of squamous lung cancer (24.40%) was higher than other histological types, followed by adenocarcinoma (22.26%), large cell (20.27%) and small cell lung cancer (12.22%). From 1972-1976 to 2002-2006, the 5-year OS of urban male patients increased from 6.8% to 12.4%, and 5-year OS of urban female patients increased from 7.3% to 14.9%. Analysis of RS gave the similar results. Conclusion: During the past 30 years, survival rate of lung cancer patients in Shanghai improved steadily, and the survival condition is above average among different countries and areas. However, survival rate of lung cancer is still low compared with other types of cancer. Future focus should be placed on the control of tobacco smoking, early detection by low-dose helical computed tomography and targeted therapy to further improve lung cancer survival.

Background and purpose:Head and neck cancer is common worldwide. This article aimed to describe the patterns of incidence of head and neck cancer and their changes in Shanghai from 2003 to 2012, in order to provide reference for prevention programs, research and control strategies on cancer.Methods:The data of lip, oral cavity and pharynx cancer cases were collected by the Shanghai Cancer Registry. The distributions of Shanghai lip, oral cavity and pharynx cancer incidences from 2003 to 2012 were described. The patterns were described according to gender, age, basis of diagnosis, histological type, diagnostic stage in detail. We compared incidences of recent 5 years (from 2008 to 2012) with those of previous 5 years (from 2003 to 2007).Results:On average from 2003 to 2012, 1105 new cases of head and neck cancer were diagnosed in Shanghai each year, with 2.08% among the total cancer cases. The crude rate was 8.01 per 100000 and the age-standardized rate was 4.45 per 100000. Nasopharyngeal cancer was the major subtype of the head and neck cancer, with 50.81% among the total head and neck cases. The crude and age-standardized rates among males were higher than those among females. The histologically verified percentage was 85.77%. The squamous carcinoma was the major histological type, with 57.58% among the total cases. The age-stan-dardized rate of nasopharyngeal cancer was in decline.Conclusion:The incidence of head and neck cancer was low in Shanghai during the past 10 years. Male cases were more than female cases. The major histological type was squamous carcinoma. Half of new cases were nasopharyngeal cancer which appeared to affect patients at a relatively young age. Patients with nasopharyngeal cancer were diagnosed at relatively advanced stages.

Objective: To analyze the patterns of female breast cancer and their incidence in Shanghai during 2003-2012, and to compare them with international data. Methods: The data of female breast cancer cases diagnosed between 2003 and 2012 were collected from the Shanghai Cancer Registry. The record of cancer cases included the patient's name, gender, date of birth, permanent and residential address, diagnosis site or name, histological type, date of first diagnosis, diagnostic basis and diagnostic stage, etc. Data source of cancer incidence of World, Developed Countries, Developing Countries, East Asia and China in 2012 sourced from GLOBOCAN 2012 database of the WHO International Agency for Research on Cancer (IARC); and the data of USA during 2008-2012 was collected from SEER 18 database from Surveillance, Epidemiology, and End Results Program of the National Cancer Institute (NCI). Incidence indicators of Shanghai female breast cancer were calculated, including the average cases, median age, average age, proportion, crude rate, age-specific rate and age-standardized rate. Results: During 2003-2012, 41 991 new cases of female breast cancer were diagnosed in Shanghai, with an average of 4 199 cases per year, accounting for 17.23% among total new female cancer cases, ranking first in female cancer incidence in Shanghai during 2003-2012, with a crude incidence rate of 60.90 per 100 000 and an age-standardized incidence rate of 33.90 per 100 000. During 2008-2012, an average 4 528 new cases of female breast cancer was diagnosed per year in Shanghai, with 16.97% among total female cancer cases. The median age was 56 years old and the mean age was 57.73 years old. The crude rate was 64.23 per 100 000 and the age-standardized rate was 35.00 per 100 0000, which was higher than those of China (22.1 per 100 000), Eastern Areas (27.0 per 100 000) and Developing Counties (31.3 per 100 000), and lower than that of World (43.1 per 100 000), and Yellow Race Population of USA (68.77 per 100 000). During 2003-2007, on average, 3 869 new cases of female breast cancer were diagnosed per year in Shanghai, accounting for 17.54% of total female cancer cases. The median age was 53 years old and the mean age was 56.44 years old. The crude rate was 57.42 per 100 000 and the age-standardized rate was 32.69 per 100 000. There was a continuing peak stage spanned 25 years old from 50 to 74 years old, during 2008-2012. Compared with those of 2003-2007, the beginning age group of the continuing peak stage was delayed for 5 years old and the ending age group was delayed for 10 years old. Conclusion The age-standardized incidence rate in Shanghai was higher than those of China, Eastern Areas and Developing Counties, and lower than that of World, and that of Yellow Race Population of USA; Compared with 2003-2007, the crude rate and age-standardized rate increased, the median age, mean age and the beginning and ending age group of the continuing peak stage were delayed.

OBJECTIVETo understand the incidence trend of malignant tumors in children aged <15 years in Shanghai.

METHODSThe <15 years old children diagnosed with cancer in Shanghai between 2009 and 2011 were included in this study. The types of malignant tumors were classified according to International Classification of Childhood Cancer, Version 3 (ICCC-3). The gender and age specific incidences of malignant tumors were analyzed. Software Joinpoint was used to calculate the annual percentage of childhood cancer cases.

RESULTSA total of 460 cases of childhood cancer were diagnosed in Shanghai during 2009-2011, accounting for 0.3% of total cancer cases. The crude incidence was 129.0 per million and the age standardized rate (ASR) was 129.6 per million. The ASR was higher in boys (142.1 per million) than in girls (116.4 per million). The boy to girl ratio was 1.2(95%CI: 1.0-1.5). The incidence was highest in age group <5 years (165.1 per million). The incidences in age groups 5-9 years and 10-14 years were 101.2 per million and 113.9 per million, respectively. Leukemia was the most common cancer in children (n=165, 35.9%, ASR: 47.0 per million), followed by central nervous system tumors (n=91, 19.8%, ASR: 25.6 per million) and lymphomas (n=45, 9.8%, ASR: 12.6 per million). The age and gender specific incidence of malignant tumors and the type specific incidence of malignant tumors in children in Shanghai had no significant changes during the study period.

CONCLUSIONSThe incidence of malignant tumors was higher in boys than in girls in Shanghai. Leukemia, central nervous system tumors and lymphomas were the three most common cancers in children. The overall incidence of malignant tumors in children in Shanghai had no significant changes during 2002-2011.

Adolescent ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Incidence ; Male ; Neoplasms ; epidemiology