OBJECTIVEThis study is to evaluate the soft tissue change of Angle's Class II division 1 malocclusion patients with vertical growth pattern after tooth extraction orthodontic treatment, and to provide experimental results to help to make orthodontic treatment plan and treatments.

METHODS38 Angle's Class II division 1 malocclusion patients with vertical growth pattern and with tooth extraction orthodontic treatment were included in this study. The pre- and post-treatment cephalometric X-rays were made and 26 measurement items were measured. The change value of pre- and post-treatment, youngsters and adults were compared.

RESULTSTUL-EP, TLL-EP, upper and lower lip position, Stoms-Stomi, U1-Ptm were reduced after treatment. Upper lip sulcus and flange thickness, upper and lower lip length, upper and lower lip inclination angle, nasolabial angle, Z angle, mentolabial sulcus inclination angle were enlarged after treatment. The upper lip sulcus thickness, lower lip length and A'-Ptm of adolescent were enlarged, but adult were on the contrary. The change of upper lip length, mentolabial sulcus inclination angle and U1-Ptm between adolescent and adult was statistically different.

CONCLUSIONThe best treatment period of patients with Angle's Class II division 1 malocculsion with vertical growth pattern was in the rapid growth and development period of adolescent.

Adolescent ; Adult ; Cephalometry ; Humans ; Lip ; anatomy & histology ; Malocclusion, Angle Class II ; pathology ; surgery ; Tooth Extraction

Objective To study the clinical characters,the mode of inheritance of osteogenesis Imperfecta in a Chinese Family and effect of bisphosphonate on Osteogenesis Imperfecta.Methods Clinical data of proband and their family members were collected.The family patterns were mapped.clinical features were summarized and analyzed.Results(1)Clinical features:There are sixty members of four generations in the family.20 cases including proband's mother and cousin were diagnosed as having OI type Ⅰ based on clinical manifestations.15 cases of blue sclera,16 cases of dentinogenesis imperfecta,5 cases of hearing loss and 3 cases of fracture.Thyroid cancer and Turner's syndrome was found in Proband's mother and cousin respectively.(2)The genetic map showed that the disease was autosomal dominant inheritance.(3)Treatment:The proband,her mother and her cousin were treated with alendronate for two years.Bone pain relieved and bone mineral density increased significantly,and no fracture occurred so far.Conclusion(1)This OI family was diagnosed as having OI type Ⅰ.The mode of inheritance is autosomal dominant inheritance.(2)Bisphosphonates may be an effective drug for treatment of OI.

Objective To analyse the high-dose dexamethasone suppression test(HDDST)-related differences in the clinical and biochemical features of the patients with Cushing's disease Methods Cases were drawn from 60 consecutive patients with Cushing's disease,who were then divided into two groups according to the response to the HDDST.The clinical and biochemical features between two groups were compared.Results(1) Of the 60 patients with Cushing's disease,23.3%(14/60)of patients(group A)did not yield results of suppression with the HDDST,and the others(group B)did.No difference was found in the age[(33.8?10.4 vs 36.2?11.2)years]and duration of illness[(2.1?1.6 vs 3.9?3.1)years]between two groups.(2)In clinical features,the patients in group A were more likely to have edema of lower limbs(64.3% vs 32.6%),hypokalemia (71.4% vs 28.3%),secondary diabetes(57.1% vs 26.1%)and purple striae(85.7% vs 54.3%,all P

Objective To summarize the clinical characteristics and make genetic diagnosis in the patients with hereditary spinocerebellar ataxia type 7 (SCA7).Methods Pedigree analysis and clinical examination were performed in one family with SCA7 by clinical findings,of which retinal morphology and visual electrophysiology were available on part numbers.The polymorphic cytosine adenine guanine (CAG) repeats in the encode region of SCA7 gene were detected by combining polymerase chain reaction with deoxyribonucleic acide (DNA) sequencing on 19 familial numbers and 12 controls.Results 6 patients were identified,who manifesting cerebellar ataxia,decreased visual acuity and colour vision defect,as was pigmentary retinopathy on fundoscopy;The 6 patients had not only extinction of the electroretinogram (ERG) but also remarkably reduced amplitudes of oscillatory potentials and flash-visual evoked potentials. On normal alleles CAG repeat size ranges from 8 to 25 repeats,wherease on mutated alleles of the 6 numbers it ranges from 50 to 97 repeats.The 6 numbers were diagnosised as SCA7 patients.One asymptomatic individual of this family,who displayed a normal allele with 18 CAG repeats and another containing abnormal expantion of 56 repeats,was diagnosised as a asymptomatic carrier whose age maybe still below the age of onset.Conclusion The clinical manifestations of SCA7 are heterogeneous,and the detection of CAG repeats can provide an effective way for the gene diagnosis and the prediction of asymptomatic patients.

OBJECTIVETwo genetic loci are associated with the myotonic dystrophy (DM) phenotype: DM1 DMPK on chromosome 19, and DM2 ZNF9 on chromosome 3. The aim of this study was to investigate the molecular genetics of a pedigree with DM.

METHODSIn twenty-six individuals from a family with DM, the CTG repeats in DMPK and CCTG repeats in ZNF9were evaluated genetically, using Long Expand trade mark Template polymerase chain reaction (PCR), Southern blotting and genomic scanning.

RESULTSThe numbers of CTG and CCTG repeat were all in normal range. There was no significant difference between the CTG repeat size in DMPK gene and that 4 years later from the same individual. The Lod score values with short tandem repeats STR markers chosen in 19q and 3q were all smaller than 1, which suggested that no STR marker was linked with this DM family.

CONCLUSIONThere might be some other mutant in this DM pedigree. Further study should be done to find the genetic basis of this pedigree.

Adolescent ; Adult ; Blotting, Southern ; Child ; Female ; Humans ; Male ; Microsatellite Repeats ; genetics ; Middle Aged ; Myotonic Dystrophy ; genetics ; Myotonin-Protein Kinase ; Pedigree ; Polymerase Chain Reaction ; Protein-Serine-Threonine Kinases ; genetics ; RNA-Binding Proteins ; genetics ; Trinucleotide Repeats ; genetics

BACKGROUNDSubclinical apoplexy of pituitary functional adenoma can cause spontaneous remission of hormone hypersecretion. The typical presence of pituitary growth hormone (GH) adenoma is gigantism and/or acromegaly. We investigated the clinical characteristics of patients with spontaneous partial remission of acromegaly or gigantism due to subclinical apoplexy of GH adenoma.

METHODSSix patients with spontaneous remission of acromegaly or gigantism were enrolled. The clinical characteristics, endocrinological evaluation and imageological characteristics were retrospectively analyzed.

RESULTSIn these cases, the initial clinical presences were diabetes mellitus or hypogonadism. No abrupt headache, vomiting, visual function impairment, or conscious disturbance had ever been complained of. The base levels of GH and insulin growth factor-1 (IGF-1) were normal or higher, but nadir GH levels were all still > 1 µg/L in 75 g oral glucose tolerance test. Magnetic resonance imaging detected enlarged sella, partial empty sella and compressed pituitary. The transsphenoidal surgery was performed in 2 cases, and the other patients were conservatively managed. All the patients were in clinical remission.

CONCLUSIONSWhen the clinical presences, endocrine evaluation, biochemical examination and imageology indicate spontaneous remission of GH hypersecretion in patients with gigantism or acromegaly, the diagnosis of subclinical apoplexy of pituitary GH adenoma should be presumed. To these patients, conservative therapy may be appropriate.

Acromegaly ; diagnosis ; etiology ; Adolescent ; Adult ; Aged ; Female ; Gigantism ; diagnosis ; etiology ; Growth Hormone-Secreting Pituitary Adenoma ; complications ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pituitary Neoplasms ; complications ; Young Adult

Adult ; Female ; Humans ; Hypercalcemia ; diagnosis ; surgery ; Hyperparathyroidism ; diagnosis ; surgery ; Male ; Middle Aged ; Parathyroid Neoplasms ; diagnosis ; surgery

OBJECTIVETo study the association of vertical facial skeletal types and sagittal facial skeletal types with anterior alveolar bone thickness.

METHODSAmong 168 cases with malocclusion in early permanent dentition stage, 93 patients were male and 75 patients were female. All patients (aged 10-14 years) were divided into 9 groups by different facial skeletal types, mandibular anterior alveolar bone thickness in patients' lateral cephalometric films were measured. ANOVA were performed to measurement results with the SPSS 13.0 statistical software.

RESULTSThough sagittal facial skeletal types were the same, there were significant differences between different vertical facial types groups. The order was low-angle group, average-angle group and high-angle group according to the size. A high-angle individual often had a thin anterior alveolar bone while a low-angle individual often had the opposite morphology character. There was no statistical significance between skeletal type I, II and III. But group of skeletal type III also had a thin alveolar bone thickness which had no significant difference with high-angle group. Low-angle group III had no significant difference with average-angle group I and II in alveolar bone thickness.

CONCLUSIONSagittal facial skeletal types have little influence on anterior alveolar morphology, but the vertical facial skeletal types have strong connection with anterior alveolar bone thickness.

Adult ; Cephalometry ; Face ; Female ; Humans ; Male ; Malocclusion ; Malocclusion, Angle Class II ; Malocclusion, Angle Class III ; Mandible

OBJECTIVETo characterize the genetic aberrations in pediatric acute lymphoblastic leukemia (ALL).

METHODSNinety ALL cases were enrolled in the study from January 2009 to November 2011. Chromosome banding analysis and fluorescence in situ hybridization (FISH) were used to detect genetic aberrations.

RESULTS(1) Chromosome analysis: 35 (53.0%) of 66 cases who had metaphase were abnormal, and 24 cases had no metaphase. (2) FISH analysis: among the 31 cases who had normal karyotypes and 24 who had no metaphase detected by chromosome banding technique, 7 (22.6%) and 14 (58.3%) cases were abnormal detected by FISH, respectively. There were no statistically significant differences compared with chromosome analysis (P = 0.655). Among these 55 ALL cases TEL/AML1, bcr-abl and MLL fusion genes were observed in 16 (29.1%), 3(5.5%) and 2(3.6%) cases, respectively. (3) Cytogenetic aberration was observed in 56 of total 90 ALL cases (62.2%).

CONCLUSIONSCytogenetic changes are common in childhood ALL. Conventional cytogenetic study could reliably detected chromosomal abnormalities for ALL with assessable metaphase. FISH should be used as a complementary method for ALL patients who have poor chromosomal morphology or no metaphase cells, and combination of both methods can improve the detection rate of genetic abnormalities in childhood leukemia.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; Female ; Fusion Proteins, bcr-abl ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Karyotyping ; Male ; Myeloid-Lymphoid Leukemia Protein ; genetics ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; genetics