Genetic Diseases, Inborn ; economics ; prevention & control ; therapy ; Humans ; Metabolic Diseases ; economics ; prevention & control ; therapy

Objective To explore the effect of the thyroid morphologic change,the initiating treatment time and the thyroid function(serum FT_4,TSH)on mental development in children with congenital hypothyroidism (CH).Methods After diagnosed,52 cases of CH were orally administrated with L-T_4,then their mental and physical development were monitored and thyroid morphologic changes were observed by thyroid imaging(~(99m)TcO_4) and type B ultrasonography.The Bayley test was performed at the age of 10 to 30 months and expressed as mental developmental index(MDI)and psychomotor developmental index(PDI).Analysis was conducted upon treatment timing and thyroid morphologic changes.Results The MDI in those cases with morphologic abnormalities treated within 90 days was significantly lower than that with normal morphology(91?20 vs 105?15,P

Adrenal Hyperplasia, Congenital ; complications ; metabolism ; Body Height ; Growth Disorders ; etiology ; Humans ; Risk Factors ; Steroid 21-Hydroxylase ; metabolism

Bronchi ; abnormalities ; Bronchial Diseases ; congenital ; diagnosis ; Child, Preschool ; Constriction, Pathologic ; congenital ; Diagnostic Errors ; Female ; Foreign Bodies ; diagnosis ; Humans

Objective To study the interobserver variabilities and the differential diagnosis value of Breast Imaging Reporting and Data System-Ultrasound (BI-RADS-US) lexicon for small ( ≤ 2 cm) breast nodules. Methods Between January 2009 and December 2011, 289 patients with small (≤2 cm) breast nodules (n=317) were included. According to sizes, the lesions were divided into two groups, i.e., 0-1 cm (n=160) group and 1-2 cm (n=157)group. Each lesion was described independently by 3 radiologists using BI-RADS-US lexicon. Interobserver variabilities were assessed by Kappa test. Chi-square test was used to compare the frequency difference of the descriptors between malignant and benign lesions. Sensitivity, speciifcity, accuracy, positive predictive value and negtive predictive value were calculated. Results (1)Moderate agreements were obtained for lesion shape, orientation, margin, echo pattern, surrounding tissue and calciifcations (κ=0.44, 0.57, 0.48, 0.43, 0.51 and 0.57) in 0-1 cm group. Substantial agreements were obtained for lesion shape, orientation, margin and echo pattern (κ=0.65, 0.61, 0.64 and 0.63) in 1-2 cm group. (2)Irregular shape, non-parallel orientation, non-circumscribed margin, echogenic halo and microcalciifcations were more frequently found in malignant nodules than in benign nodules in 0-1 cm group [52.3% (34/65) vs 20.0% (19/95), 38.5%(25/65) vs 13.7%(13/95), 75.4%(49/65) vs 32.6%(31/95), 18.6%(12/65) vs 0 (0/95) and 10.8%(7/65) vs 2.1%(2/95);χ2=18.19, 13.08, 28.22, 16.39 and 3.95;P=0.000, 0.000, 0.000, 0.000 and 0.047]. Similarly, irregular shape, non-parallel orientation, non-circumscribed margin, echogenic halo, shadowing, changes of Cooper′s ligament and microcalciifcations were signiifcantly more frequent found in malignant nodules than in benign nodules in 1-2 cm group [74.2%(49/66) vs 12.1%(11/91), 36.3%(24/66) vs 5.5%(5/91), 93.9%(62/66) vs 22.0%(20/91), 37.9%(25/66) vs 3.3%(3/91), 30.3%(20/66) vs 7.7%(7/91), 15.2%(10/66) vs 0 (0/91) and 16.7%(11/66) vs 4.4%(4/91);χ2=62.59, 24.21, 79.40, 31.22, 13.73, 12.30 and 6.67;P=0.000, 0.000, 0.000, 0.000, 0.000, 0.000 and 0.010]. (3)In both groups, a good sensitivity was demonstrated (75.4%&93.9%) when using the non-circumscribed margin as a criterion for malignancy, and high speciifcity was achieved in two groups (80.0%-100%and 87.9%-100%) when other descriptors including irregular shape, non-parallel orientation, echogenic halo, shadowing, changes of Cooper′s ligament and microcalciifcations were used as differentiation criteria. Conclusions Good interobserver agreement can be achieved using the BI-RADS-US lexicon in the diagnosis of small breast nodules. Non-circumscribed margin are proved as the most valuable sign for screening malignant breast lesions ≤ 2 cm. High speciifcity was found for irregular shape, nonparallel orientation, echogenic halo, shadowing, Cooper′s ligament changes and microcalciifcations, which can help biopsy and preoperative diagnosis.

OBJECTIVETo report the results of clinical characteristics, enzyme activity determination and mutation analysis of GLB1 gene in a Chinese patient with mucopolysaccharidosis (MPS) type IVB (Morquio B disease).

METHODA 14-year-old Chinese boy with MPS type IVB was firstly diagnosed by blood leucocytes galactosamine-6-sulfate sulfatase (GALNS) and β-galactosidase (GLB1) determination, who was characterized by short stature, multiplex skeletal abnormalities, difficulty in walking. PCR-sequencing analysis was applied to detect the mutations in GLB1 of the patient.

RESULTThe patient was characterized by dwarfism, pectus carinatum, kyphosis, normal intelligence, and no neurologic damage of spasms, linguistic capacity and so on. The patient had normal GALNS enzyme activity and very low GLB1 enzyme activity [5.03 nmol/(h·mg) vs. normal value 118 - 413 nmol/(h·mg) ] in leukocytes. A compound heterozygous missense mutations c.442C > T(p.R148C)/c.1454A > G(p.Y485C) in GLB1 gene were detected in this patient. The mutation p.Y485C is a novel variant. With the method of gene analysis of new variant, the mutation p.Y485C was considered to be a pathogenic mutation.

CONCLUSIONThe MPS IVB patient showed severe multiple skeletal deformities, normal intelligence, no neurologic damage and very low GLB1 enzyme activity, who carries compound heterozygous mutations p.R148C/p.Y485C. The mutation p.Y485C in GLB1 gene may be a novel pathologic mutation of MPS type IVB.

Adolescent ; Amino Acid Sequence ; Asian Continental Ancestry Group ; genetics ; Chondroitinsulfatases ; genetics ; metabolism ; DNA Mutational Analysis ; Humans ; Joints ; pathology ; Male ; Molecular Sequence Data ; Mucopolysaccharidosis IV ; enzymology ; genetics ; pathology ; Mutation, Missense ; Pedigree ; Polymerase Chain Reaction ; Radiography ; Spine ; diagnostic imaging ; pathology ; beta-Galactosidase ; genetics ; metabolism

OBJECTIVETo analyze the stress distribution of bone around the dental implants with lateral immediate loading of different angles by three dimensional finite element.

METHODSAn adult edentulous mandible was adopted for CT scanning. The CT image was imported to universal surgical integration system to establish a mandible three dimensional mesh model. The real shape of standard thread implant was simulated and the finite element model of mandible with dental implants for immediate loading was established. The models were immediately loaded with 150 N through the angle of 0 degrees, 10 degrees, 20 degrees, 30 degrees. The ANSYS 10.0 was used to analyze the Von Mises stress on the bone around dental implants.

RESULTSThe accurate finite element model of mandible with dental implants for immediate loading was successfully established. The three dimensional finite element analytical results showed: Under axial load, the Von Mises stress of bone contact surface concentrated on the cortical bone of the implant cervix. The strain distribution was even, and centralized at the cortical bone of the implant cervix, cancellous bone of implant bottom and thread contact area. Under different lateral angle load, the Von Mises stress of bone contact surface also concentrated on the cortical bone of the implant cervix, but the maximum value was 4 times of the vertical loading, the strain distributed unevenly, mainly concentrated on the cortical bone of the implant cervix. With the load angle increased, the stress and the strain value also increased.

CONCLUSIONWhen an axial force was immediately loaded, the stress value and the strain concentration value of bone interface around the dental implants are not apparently concentrated, the stress is distributed well. While a lateral force is loaded, the stress values and the strain concentration values of bone interface around the dental implants apparently increase and the strain are distributed unevenly.

Dental Implants ; Dental Stress Analysis ; Female ; Finite Element Analysis ; Humans ; Mandible ; Stress, Mechanical

OBJECTIVETo investigate the design, procedures and effect of latissimus dorsi-myocutaneous flap (LDMF) for breast reconstruction.

METHODSFrom May, 2005 to April, 2006, 18 consecutive patients underwent breast reconstruction with LDMF. Combined breast implants were also inserted in 8 of the 18 cases. The procedure duration, complication and aesthetic results were assessed.

RESULTSThe mean procedure duration was 147 minutes. There was no flap loss and no severe complications. The reconstructed breast was a little over high in one patient. All the other 17 patients (94.4%) were very satisfied with the aesthetic result.

CONCLUSIONSLDMF or a combination of LDMF with breast implants is a reliable method for breast reconstruction with low complication. The procedure is easily performed with good aesthetic result.

Adult ; Female ; Humans ; Mammaplasty ; methods ; Middle Aged ; Muscle, Skeletal ; transplantation ; Surgical Flaps

Objective To investigate the diagnostic value of pregnancy-associated plasma protein-A (PAPP-A) in acute coronary syndrome (ACS) patients. Methods Forty-nine cTnI-negative patients with coronary artery disease who were documented by angiography [31 cases with ACS,18 cases with stable angina (SAP)], and 28 healthy persons were selected as controls. PAPP-A and hs-CRP were analysed with enzyme-linked immunosorbent assay (ELISA). Results Circulating PAPP-A and ha-CRP levels were significandy higher in patients with ACS than those in patients with SAP and controls (P < 0.05). PAPP-A threshold value of 2.79 μg/ml identified patients who had ACS with a sensitivity of 81.0% and a specificity of 84.6%. PAPP-A levels were correlated with hs-CRP levels in patients with ACS (r = 0.418, P < 0.01). Conclusion PAPP-A is a strong candidate marker of ACS, especially to eTnl-negative patients.

Objective To determine the prevalence and genotype of hepatitis E virus (HEV)among commercial swine population in Eastern and Southern China. Methods Six hundred specimens of swine bile collected from 5 slaughterhouses in Eastern and Southern China from 2007 to 2009 were tested for HEV RNA using nested RT-PCR. PCR products were sequenced for phylogenetic analysis. Results Forty-seven out of the 600 samples (7.83%) were positive for HEV RNA. Based on the 150 nt fragment within HEV ORF2, data from phylogenetic analysis revealed that all the 47 HEV isolates were identified to be genotype Ⅳ, sharing 75.0%-83.4%, 75.0%-84.6%, 71.9%-80.7% and 88.1%-91.5% nucleotide identities with prototype Ⅰ,Ⅱ,Ⅲ and Ⅳ HEV strains respectively while majority of the isolates clustered within their respective isolation sites. Conclusion HEV was widespread in commercial swine population in Eastern and Southern China that raised a serious concern about the safety regarding the consumption of pork products.