Data Collection ; methods ; Metabolomics ; methods

OBJECTIVEFabry disease is a rare lysosome storage disease featuring X-linked recessive inheritance. The study was to explore potential mutations of alpha-galactosidase A (GLA) gene and their correlation with clinic manifestations in three Chinese pedigrees with Fabry disease.

METHODSAll exons and flanking sequences of GLA gene were amplified with PCR. Potential mutations were detected with bidirectional DNA sequencing. Correlation between particular mutations and clinic features were analyzed.

RESULTSA unreported missense mutation, c.797A>C (D266A) in GLA exon 5 was identified in pedigree 1. Also in exon 5, a missense mutation c.644A>G (N215S) was found in pedigree 2. In pedigree 3, a nonsense mutation c.355C>T (Q119X) was found in exon 2. The c.797A>C mutation was not detected in 200 unrelated male controls. The probands of pedigrees 1 and 3 had presented mainly with skin damage and chronic renal insufficiency, whilst the proband of pedigree 2 had presented with hypertrophic cardiomyopathy.

CONCLUSIONThe unreported c.797A>C (D266A) mutation is the sixth missense type mutation of the 266th codon of GLA gene, and all other 5 missense mutations reported previously had been confirmed to be responsible for Fabry disease. The c.797A>C mutation, not found in 200 unrelated male controls, may be the causative mutation in pedigree 1. The c.644A>G and c.355C>T mutations were first detected in Chinese patients. Variable phenotypes of Fabry disease may be in part attributed to the natures of particular mutations of GLA gene.

Adult ; Fabry Disease ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; alpha-Galactosidase ; genetics

OBJECTIVETo summarize the experience of surgical therapy in a series of 438 patients with intracranial aneurysms.

METHODSA retrospective analysis was made on the clinical data of 438 patients, in terms of the perioperative management, timing of surgery, surgical skills, and The HUNT-HESS grade.

RESULTS438 patients with 476 aneurysms underwent microsurgery, in which 450 aneurysms were clipped, 14 were wrapped, 8 were isolated,4 were cut. 32 aneurysms were ruptured (6.72%) during the operation. The relation between Hunt-Hess scale and mortality is significant postpone operation (> or =7 d) has got a better curative effect than the early.

CONCLUSIONSMicrosurgical treatment is a confirmed effective method with intracranial aneurysms. The higher of HUNT-HESS grade will result to the worse clinical outcome.

Adolescent ; Adult ; Aged ; Child ; Female ; Humans ; Intracranial Aneurysm ; mortality ; surgery ; Male ; Microsurgery ; methods ; Middle Aged ; Neurosurgical Procedures ; methods ; Prognosis ; Retrospective Studies ; Treatment Outcome

OBJECTIVETo evaluate the temporomandibular joint (TMJ) function after mandible reconstruction with free fibula flap and with different condyle treatment.

METHODSForty-one cases of mandible and condyle defects following benign tumor resection were reconstructed with fibula free flap, with the condyle being reconstructed by three methods: placement of the distal end of the fibula flap into the glenoid fossa, the fibula serving as the condyle (24 cases); attachment of the resected condyle as a nonvascularized transplant to the end of the fibula flap (5 cases); condyle preservation plus vascularized fibular reconstruction (12 cases). The postoperative TMJ function was evaluated by Fricton function index.

RESULTSNo TMJ ankylosis occurred in all patients. There were no significant differences in aesthetics, deglutition and speech function among the three groups; but there were significant differences in TMJ function index (DI, CMI) among different condyle treatments. Condylar preservation showed better TMJ function than fibula used as a substitute for condyle.

CONCLUSIONSPreservation of condyle during free fibula mandibular reconstruction can improve patients' TMJ function. The location and shape of fibular condyle were important factors that could influence the outcome the condyle reconstruction.

Adolescent ; Adult ; Bone Transplantation ; Female ; Fibula ; transplantation ; Free Tissue Flaps ; blood supply ; Humans ; Male ; Mandibular Condyle ; surgery ; Reconstructive Surgical Procedures ; methods ; Temporomandibular Joint ; physiopathology ; Young Adult

Objective To provide the skin vessels morphologie basis for perforating flap of the antero- lateral thigh(ALT).Methods Six sides lower limbs of adult fresh cadaver specimens perfused with lead oxide-gelatine mixture were used.Observe the peraforators of anterolateral thigh by dissection.The elevated tissue was radiographed by X-ray and MSCT-scanning.Computer techniques was used for the detection and 3D-reconstruction of the regions of each perforators of ALT flap.Results The three-dimensional recostruct- ed digitized visible models perfectly displayed the anatomic structures of arteries on the anterolateral thigh, and,the morphology and distribution of the vascular territory of each perforator from descending branch of LCFA was displayed in the images of 3D-visualization,their effective morphology and distribution were same, and they accord with vascular territory of radiograph.On the 2D-image of X-ray,The margins of the anatomical distribution of each perforator from descending branch of the lateral circumflex femoral artery were determined, their total areas was about 25cm?24cm.Conclusion Since the digitized image of perforator territory can accord with the morphology of anatomy,and can off vascular structure insights into cutaneous perforator anato- my,their 3D visualizative models can be applied in pre-operative designing and virtual operation procedures, and can be helped for study of perforator flap.

OBJECTIVETo investigate the factors that influence survival of the patients with differentiated thyroid carcinoma in young people and evaluate the efficiency of unilateral lobectomy plus isthmectomy with therapeutic cervical lymph node dissection and postoperative TSH (thyroid stimulating hormone) suppressive therapy.

METHODSOne hundred and thirty-one patients under 30 years old with differentiated thyroid carcinoma treated in this hospital (14 cases no more than and 117 cases more than 16 years) from Jan. 1st, 1985 to Dec. 31st, 1997 were retrospectively reviewed. One hundred and twenty-eight patients were received only surgery and TSH suppressive therapy, and 3 patients received chemotherapy or radiotherapy because of the progressive metastasis in necks or mediastina. A multivariate analysis was performed in these patients by the Cox proportional hazard model.

RESULTSThe mean follow-time (x +/- s) of all patients were (140.86 +/- 43.76) months, with range from 20 to 229 months; Ninety-eight patients followed more than 10 years. Ten patients died of thyroid cancer. The overall 10-year survival rate was 97.18%. The 10-year survival rate for patients < or = 16 years of age and > 16 years were 75.97% and 96.57% respectively (P = 0. 0006). The 10-year survival rate for women and men were 94.91% and 93.69% respectively (P = 0.5261). The 10-year survival rates of patients with papillary thyroid carcinoma and follicular thyroid carcinoma were 93.77% and 96. 55% respectively (P = 0.8137). For patients with tumor size of < or = 1 cm, 1-4 cm and >4 cm the survival rate was 100.0%, 96.40%, and 80.67% respectively (P = 0. 0589). The 10-year survival rates of patients with or without lymph node metastasis were 88.37% and 100. 0% respectively (P = 0.0313). For patients of with or without distant metastasis, The survival rate was 96.64% or 60.00% (P = 0.0000). The 10-year survival rates with or without recurrence were 86. 67% and 95.48% respectively (P = 0. 5681). Using multivariate analysis, risk factors that independently influence survival were distant metastasis, tumor size and age.

CONCLUSIONSThe distant metastasis, tumor size and age at diagnosis were the independent factors influencing survival significantly. The status of lymph node metastasis may have certain effect on the prognosis. Unilateral lobectomy plus isthmectomy with a therapeutic cervical lymph node dissection followed by postoperative TSH suppressive therapy is a favourable model to children and young adults with DTC without distant metastasis, but to the patients with distant metastasis, their prognosis of this therapy model is disappointing.

Adenocarcinoma, Follicular ; mortality ; pathology ; surgery ; Adolescent ; Adult ; Child ; Female ; Humans ; Lymphatic Metastasis ; Male ; Papilloma ; mortality ; pathology ; surgery ; Prognosis ; Retrospective Studies ; Survival Rate ; Thyroid Neoplasms ; mortality ; pathology ; surgery ; Treatment Outcome ; Young Adult

OBJECTIVETo study the distribution of cervical lymph nodes metastases in patients with differentiated thyroid carcinoma, explore the surgical modality of the neck of cN + cervical node metastasis and evaluate the role of preoperative ultrasonography in detecting of cervical metastases of differentiated thyroid carcinoma.

METHODSData were reviewed retrospectively from medical records between July 2003 and July 2005, in which 93 patients (113 sides) of differentiated thyroid carcinoma patients with cN + cervical lymph nodes metastasis. Patients were divided into 2 groups: group 1, 64 cervical sides with preoperative palpable cervical lymph nodes; group 2, 49 cervical sides with impalpable node but preoperative ultrasonic positive nodal metastasis. All the pathologic specimens were reviewed by pathologists counting the numbers of pathologic positive nodes and mapping localization of positive nodes in level II, III, IV, V and VI respectively.

RESULTSIn 93 patients 21.5% (20/93) of those metastasize bilaterally. In those 113 sides specimens 92 sides (81.4%) involved multi-sites in the neck. The distribution of metastasized nodes were; level II, 60.2% (68/113); level III, 70.8% (80/113); level IV,61.9% (70/113); level VI, 58.4% (66/113); level V, 22.5% (25/113). The numbers of positive nodes of group 1 were more than the number of group 2 (10.1 vs 6.9) and the involved levels of group 1 was also more than the levels of group 2 (3.18 level vs 2.61 level). Preoperative ultrasonography could detect 43.4% (49/113) of lymph nodes metastasis that were missed by palpation in the physical examination.

CONCLUSIONSThe distribution of the cervical nodes in patients with differentiated thyroid carcinoma were multi-levels in the neck and mainly localized in level II , level III, level IV and level VI. Preoperative ultrasonography is a mainstay in detecting of cervical lymph nodes metastasis in thyroid cancer. For patients with differentiated thyroid carcinoma of cN + cervical lymph nodes should be undergone modified neck dissection, includes level II, III, IV, V, VI.

Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Lymph Nodes ; diagnostic imaging ; pathology ; Lymphatic Metastasis ; Male ; Middle Aged ; Neck ; pathology ; Neck Dissection ; Neoplasm Staging ; Retrospective Studies ; Thyroid Neoplasms ; diagnostic imaging ; pathology ; Ultrasonography ; Young Adult

BACKGROUNDTo investigate the correlation of clinical features with pathology in chronic viral hepatitis (CH).

METHODSAnalyses of single factor and multiple factors of serum biochemical indices, imaging examination results, symptoms and signs with degree of pathological lesion of hepatic tissue in 973 cases of CH were conducted. Meanwhile, the hepatic functional index (AAPEA index) was used to investigate the role of serum biochemical indices in diagnosis of CH.

RESULTSIn these patients with CH,the severity of hepatic lesion was closely correlated to symptoms and signs, biochemical indices such as PTA, ALT, TBIL, ALB, A/G, gamma-globulin (gamma-G) by electrophoresis, AST and cholinesterase (CHE) as well as splenic thickness. AST was superior to ALT in reflecting degree of hepatic inflammatory activity. The total mistaken judgment rate of multiple factor analysis was 28.1%. The correlation coefficient of AAPEA index to degrees of hepatic inflammatory activity, fibrosis and pathological grading was 0.559, 0.545 and 0.529, respectively (P<0.000 1)

CONCLUSIONSThe biochemical indices such as PTA, ALT, TBIL, ALB, A/G, gammaG, AST, CHE and the determination of splenic thickness by ultrasonography B could reflect hepatic pathological changes to certain extent. AST was superior to ALT in reflecting degree of hepatic inflammatory activity. Incorrect judgment rate was high in determination of moderate and severe CH by multiple factor analysis. Conformity rate between AAPEA index and pathological diagnosis was better than any of them alone in diagnosing CH.

Adolescent ; Adult ; Aged ; Biopsy, Fine-Needle ; Child ; Child, Preschool ; Female ; Hepatitis B, Chronic ; blood ; diagnosis ; pathology ; Hepatitis C, Chronic ; blood ; diagnosis ; pathology ; Humans ; Infant ; Liver ; pathology ; Liver Function Tests ; Male ; Middle Aged ; Spleen ; diagnostic imaging ; Ultrasonography

Humans ; Anodontia/genetics* ; Tooth Abnormalities/genetics* ; Mutation ; Malocclusion/genetics* ; Wnt Proteins/genetics*

BACKGROUNDThe properties of subchondral bone influence the integrity of articular cartilage in the pathogenesis of osteoarthritis (OA). However, the characteristics of subchondral bone alterations remain unresolved. The present study aimed to observe the dynamic alterations in the microarchitecture, mineralization, and mechanical properties of subchondral bone during the progression of OA.

METHODSA medial meniscal tear (MMT) operation was performed in 128 adult Sprague Dawley rats to induce OA. At 2, 4, 8, and 12 weeks following the MMT operation, cartilage degeneration was evaluated using toluidine blue O staining, whereas changes in the microarchitecture indices and tissue mineral density (TMD), mineral-to-collagen ratio, and intrinsic mechanical properties of subchondral bone plates (BPs) and trabecular bones (Tbs) were measured using micro-computed tomography scanning, confocal Raman microspectroscopy and nanoindentation testing, respectively.

RESULTSCartilage degeneration occurred and worsened progressively from 2 to 12 weeks after OA induction. Microarchitecture analysis revealed that the subchondral bone shifted from bone resorption early (reduced trabecular BV/TV, trabecular number, connectivity density and trabecular thickness [Tb.Th], and increased trabecular spacing (Tb.Sp) at 2 and 4 weeks) to bone accretion late (increased BV/TV, Tb.Th and thickness of subchondral bone plate, and reduced Tb.Sp at 8 and 12 weeks). The TMD of both the BP and Tb displayed no significant changes at 2 and 4 weeks but decreased at 8 and 12 weeks. The mineral-to-collagen ratio showed a significant decrease from 4 weeks for the Tb and from 8 weeks for the BP after OA induction. Both the elastic modulus and hardness of the Tb showed a significant decrease from 4 weeks after OA induction. The BP showed a significant decrease in its elastic modulus from 8 weeks and its hardness from 4 weeks.

CONCLUSIONThe microarchitecture, mineralization and mechanical properties of subchondral bone changed in a time-dependent manner as OA progressed.

Animals ; Collagen ; metabolism ; Male ; Osteoarthritis ; diagnostic imaging ; metabolism ; physiopathology ; Rats ; Rats, Sprague-Dawley ; X-Ray Microtomography