The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient...The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinations and phenotype data were collected over a follow-up period of 9 years. Mutation analysis of the candidate gene BCOR was performed with polymerase chain reaction and Sanger sequencing. BCOR of 60 unrelated normal individuals were also sequenced as a control group. Clinical phenotyping and follow-up study results indicate that this patient had multiple system anomalies including ocular, facial, cardiac, dental, and limb malformations. In addition, papilloma of the choroid plexus was identified, which represents the first report of this phenotype in an OFCD patient. A novel deletion mutation, c.1296 delT in exon4 of the BCOR gene, was identified in this patient and was not found in her parents or in 60 normal unrelated individuals. This deletion was a frameshift mutation and is proposed to encode a premature stop codon, thus producing a truncated protein. Our patient fitted the diagnostic criteria for OFCD syndrome and we report the first papilloma of the choroid plexus in an OFCD patient, expanding the recognized phenotypic spectrum of this disease. Meanwhile, we identified a novel deletion mutation that may cause OFCD syndrome.展开更多
Background： Facioscapulohumeral muscular dystrophy （FSHD）, a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among d...Background： Facioscapulohumeral muscular dystrophy （FSHD）, a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling. Methods： Here, a cohort of[36 Chinese families including 178 affected individuals and 137 unaffected members were investigated. Genetic analyses were pertbrmed using the pl 3E-11, 4qA and 4qB probes after pulsed field gel electrophoresis separation and southern blotting. A I 0-grade FSHD clinical severity scale was adopted for clinical assessment. The genotype-phenotype correlation was established by linear regression analyses. Results： We observed a roughly inversed correlation between the short EcoRl fragment size and age-corrected clinical severity score in 154 symptomatic patients （P 〈 0.05）. Compared to male patients, a significant higher proportion of females in both asymptomatic carriers and severe patients showed larger variation in the size of short EcoRI fragment. A high incidence （ 19/42, 45.2%） ofasymptomatic （or minimally affected） carriers was found in familial members. Conclusions： Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation, a rnajority ofphenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat, especial in female cases. Our resuhs suggest that there are multi-factors synergistically modulating the phenotypic expression.展开更多
Objective: The aim of this study is to establish the methods of four facio-cervical field's conformal radiotherapy(4F-CRT) for nasopharyngeal carcinoma(NPC), and to optimize the methods for clinical practice. Mate...Objective: The aim of this study is to establish the methods of four facio-cervical field's conformal radiotherapy(4F-CRT) for nasopharyngeal carcinoma(NPC), and to optimize the methods for clinical practice. Materials and Methods:40 patients with untreated NPC of T1-T4(1997 AJCC Staging System) were rolled into this study.Conventional and four facio-cervical fields conform plans were designed for each patient using Pinnacle 8.0 three-dimension treatment planning system(3D-TPS)as follows: 1. Improved plan, four facio-cervical field's conform plan, anterior, posterior facio-cervical and two lateral opposing facio-cervical fields; 2. Conventional plan, two lateral opposing facio-cervical fields delivered to the target in each plan, only with the same dose dose volume histograms(DVHs) of the targets and normal organs, brain stem,spinal cord, parotid glands, and temporal mandibular joints(TMJs) were compared and the dose distribution were evaluated. Results: 1.The dose distribution of the improved plan could meet the requirements for the target volume. 2. There was not any significant difference in the dose of spinal cord between the two plans.The mean doses of Dmaxfor brain stem in conventional plan were much lower than those in the improved plan,though both were within safety limits. 3. Compared with the conventional plans, the improved plan significantly decreased the hotspot areas in the target volume and had better parotid glands and temporal mandibular joints sparing effect. Conclusion:Compared with the conventional plan, the improved plan provides satisfactory dose coverage to the tumor volume and better sparing of the parotid gland, TMJs and other normal tissues in external beam radiotherapy of NPC.展开更多
目的:初步探讨眼面心牙综合症(oculo-facio-cardio-dentalsyndrome,OFCD)患者牙根过度发育的机制。方法:分别取OFCD患者和正常人根尖牙乳头干细胞,通过MTT法检测增殖能力、碱性磷酸酶(alka line phosphatase,ALP)试剂盒法检测ALP活性、W...目的:初步探讨眼面心牙综合症(oculo-facio-cardio-dentalsyndrome,OFCD)患者牙根过度发育的机制。方法:分别取OFCD患者和正常人根尖牙乳头干细胞,通过MTT法检测增殖能力、碱性磷酸酶(alka line phosphatase,ALP)试剂盒法检测ALP活性、Western Blot检测牙本质涎蛋白(dentin sialoprotein,DSP)和核心结合因子(runt-related transcription factor 2,Runx2)的表达量。结果:OFCD患者根尖牙乳头干细胞的增殖活性、ALP活性、DSP和Runx2蛋白表达量均高于正常人来源的根尖牙乳头干细胞。结论:根尖牙乳头干细胞的增殖及成牙成骨能力增强可能是导致OFCD患者牙根过度发育的原因。展开更多
基金supported by Beijing New Star of Science and Technology (H020821380190, Z131102000413025)Fund of Work Committee for Women and Children of China State Department (2014108)+1 种基金National Natural Science Foundation (30471861)Beijing Institute of Ophthalmology Leading Programme (201515)
文摘The purpose of the present study was to analyze the clinical phenotypes of a girl with oculo-facio-cardio-dental(OFCD)syndrome and to identify the potential pathogenic mutation responsible for her disease. The patient underwent detailed clinical examinations and phenotype data were collected over a follow-up period of 9 years. Mutation analysis of the candidate gene BCOR was performed with polymerase chain reaction and Sanger sequencing. BCOR of 60 unrelated normal individuals were also sequenced as a control group. Clinical phenotyping and follow-up study results indicate that this patient had multiple system anomalies including ocular, facial, cardiac, dental, and limb malformations. In addition, papilloma of the choroid plexus was identified, which represents the first report of this phenotype in an OFCD patient. A novel deletion mutation, c.1296 delT in exon4 of the BCOR gene, was identified in this patient and was not found in her parents or in 60 normal unrelated individuals. This deletion was a frameshift mutation and is proposed to encode a premature stop codon, thus producing a truncated protein. Our patient fitted the diagnostic criteria for OFCD syndrome and we report the first papilloma of the choroid plexus in an OFCD patient, expanding the recognized phenotypic spectrum of this disease. Meanwhile, we identified a novel deletion mutation that may cause OFCD syndrome.
文摘Background： Facioscapulohumeral muscular dystrophy （FSHD）, a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine this correlation in order to provide new information for genetic counseling. Methods： Here, a cohort of[36 Chinese families including 178 affected individuals and 137 unaffected members were investigated. Genetic analyses were pertbrmed using the pl 3E-11, 4qA and 4qB probes after pulsed field gel electrophoresis separation and southern blotting. A I 0-grade FSHD clinical severity scale was adopted for clinical assessment. The genotype-phenotype correlation was established by linear regression analyses. Results： We observed a roughly inversed correlation between the short EcoRl fragment size and age-corrected clinical severity score in 154 symptomatic patients （P 〈 0.05）. Compared to male patients, a significant higher proportion of females in both asymptomatic carriers and severe patients showed larger variation in the size of short EcoRI fragment. A high incidence （ 19/42, 45.2%） ofasymptomatic （or minimally affected） carriers was found in familial members. Conclusions： Although the number of D4Z4 repeats is known as one of the critical influences on genotype-phenotype correlation, a rnajority ofphenotypic spectrum was still incompatible with their heterozygous contraction of the D4Z4 repeat, especial in female cases. Our resuhs suggest that there are multi-factors synergistically modulating the phenotypic expression.
文摘Objective: The aim of this study is to establish the methods of four facio-cervical field's conformal radiotherapy(4F-CRT) for nasopharyngeal carcinoma(NPC), and to optimize the methods for clinical practice. Materials and Methods:40 patients with untreated NPC of T1-T4(1997 AJCC Staging System) were rolled into this study.Conventional and four facio-cervical fields conform plans were designed for each patient using Pinnacle 8.0 three-dimension treatment planning system(3D-TPS)as follows: 1. Improved plan, four facio-cervical field's conform plan, anterior, posterior facio-cervical and two lateral opposing facio-cervical fields; 2. Conventional plan, two lateral opposing facio-cervical fields delivered to the target in each plan, only with the same dose dose volume histograms(DVHs) of the targets and normal organs, brain stem,spinal cord, parotid glands, and temporal mandibular joints(TMJs) were compared and the dose distribution were evaluated. Results: 1.The dose distribution of the improved plan could meet the requirements for the target volume. 2. There was not any significant difference in the dose of spinal cord between the two plans.The mean doses of Dmaxfor brain stem in conventional plan were much lower than those in the improved plan,though both were within safety limits. 3. Compared with the conventional plans, the improved plan significantly decreased the hotspot areas in the target volume and had better parotid glands and temporal mandibular joints sparing effect. Conclusion:Compared with the conventional plan, the improved plan provides satisfactory dose coverage to the tumor volume and better sparing of the parotid gland, TMJs and other normal tissues in external beam radiotherapy of NPC.
