·AIM: To analyze the clinical manifestation of Alport syndrome, especially the ocular features.·METHODS: The physical, ophthalmologic and audiologic examination results of thirty two patients with Alport syndrome were analyzed retrospectively.·RESULTS: Thirty (93.7%) patients had some family history. All patients had renal disease: eighteen(56.3%) patients with chronic renal failure, four(12.5%) patients with renal insufficiency, and the other ten(31.3%) patients with hematuria. Twenty (62.5%) patients had sensorineural deafness. Thirteen (40.6%) patients had ocular deformity, five(15.6%) patients had typical ocular changes: three patients with anterior lenticonus, and two patients with macular flecks.·CONCLUSION: Ocular anomalies are not requisite for the diagnosis of Alport syndrome. But its typical ocular features should be recognized by the ophthalmologists which supports the diagnosis.

OBJECTIVETo study the bone state with ultimate stress by examining biomechanical distribution of upper femur in Chinese, in order to accumulate more experiences for clinical work.

METHODSTotally 60 Chinese femurs from fresh cadavers were randomly divided into two groups. All the femurs were cleaned, and the body age ranged from 36 to 72 years old, averaged 56.4 years, including 41 from males, and 19 from females. These two groups underwent mechanical stress and bending stress tests. Special mechanical laboratory and machines were used to get the information. Results about the loading value at each testing point under stress were collected.

RESULTSThe four faces of the upper femur suffered different stress under external forces. The bone on upper femur can tolerate more mechanical stress than bending stress. Medial and lateral region of the femur neck and the rear side of the small tuberosity section were themain position enduring the vertical stress. The rear position of the base femur neck and the small tuberosity section were the main regions enduring the bending stress. Those main positions had strong cancellous bones. The intertrochanteric fracture fixation and artificial femoral stems were designed depending on this biomechanical basis.

CONCLUSIONAccording to our experiment result, doctors need to chose more effective fixations for upper femur fracture, and femoral stems for the patients. More information should be collected by further researches.

Adult ; Aged ; Biomechanical Phenomena ; Female ; Femur ; chemistry ; Humans ; Male ; Middle Aged ; Stress, Mechanical

OBJECTIVETo detect beta-catenin mRNA levels in sporadic colorectal cancers (SCRC) and adjacent normal colorectal mucosa, and to investigate the association between the beta-catenin mRNA level and its aberrant expression and clinicopathological parameters.

METHODSThe concentration of beta-catenin mRNA in 81 SCRCs and 28 adjacent normal colorectal mucosa specimens was determined by TaqMan real-time quantitative RT-PCR. The ratio of beta-catenin cDNA copies/GAPDH cDNA copies was used to represent the mRNA expression level in different tissues. The beta-catenin protein expression was determined by the EnVision two-step immunohistochemical method.

RESULTSbeta-catenin mRNA levels in SCRCs (2.527 +/- 2.284) were lower than those in the adjacent normal colorectal mucosa (5.003 +/- 3.326), P < 0.05. In addition, beta-catenin mRNA levels in lymph node-positive cases and tumors with ulcerative and infiltrating growth types were significantly lower (1.827 +/- 1.288, 2.202 +/- 2.035) than those in lymph node-negative cases and polypoid growth type tumors (3.359 +/- 2.881, 3.108 +/- 2.610), P < 0.05. No significant difference of beta-catenin mRNA level was found between cases with aberrant beta-catenin cytoplasm or nuclear expression and those without.

CONCLUSIONSSCRCs express lower levels of beta-catenin mRNA than normal colorectal mucosa. Such lower level expression is associated with lymph node metastasis and tumors with ulcerative and infiltrative growth pattern. Aberrant cytoplasmic and nuclear expression of beta-catenin appears unrelated to the lower mRNA levels. Quantitative detection of beta-catenin mRNA may be a useful approach to monitor the biological behavior of SCRCs.

Adenocarcinoma ; genetics ; metabolism ; pathology ; Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; genetics ; metabolism ; pathology ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Immunohistochemistry ; Intestinal Mucosa ; metabolism ; pathology ; Lymphatic Metastasis ; Male ; Middle Aged ; RNA, Messenger ; genetics ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; beta Catenin ; biosynthesis ; genetics

OBJECTIVETo investigate the epidemiological features, genetic drift in the epitopes of hemagglutinin (HA) of the novel influenza A (H1N1) virus and oseltamivir-resistant variants characterized by H275Y and N295S mutations in children in Shanghai since the outbreak.

METHODBetween June 2009 and May 2012, a prospective surveillance study was carried out in Shanghainese children who attended the outpatient clinic of Children's Hospital of Fudan University for influenza-like illness. One-step real-time fluorescence quantitative RT-PCR was performed to detect seasonal influenza A and influenza B virus and the novel influenza A (H1N1) virus in the respiratory samples. Genetic drift from the vaccine strain in HA epitopes of the novel influenza H1N1 virus and the molecular markers associated with oseltamivir resistance in neuraminidase (NA) were analyzed.

RESULTOut of 3475 enrolled cases, the novel influenza A (H1N1) virus was confirmed virologically in 222 (6.4%) otherwise healthy children with 133 (59.9%) being boys and 89 (40.1%) girls. The median ages of children with the novel influenza A (H1N1) virus infection during the first wave from August 2009 to February 2010 and the second wave from December 2010 to February 2011 were 53.5 months and 32.0 months, respectively (Z = -4.601, P = 0.000); 119 (46.9%) had the close contact with persons suffering from fever or respiratory infection, of whom, 68 (57.1%) contacts were family members and 47 (39.5%) contacts were classmates. During the outbreak in 2009-2010 season, 66 (40.9%) were exposed to primary index cases, school students were the major exposure subjects, accounting for 50.0%. The nucleotide sequences of HA1 gene were highly homologous between the vaccine strain A/California/07/2009 and Shanghai circulating novel influenza A (H1N1) strains and only S83P mutation in epitope E of HA was detected inclusively in the circulating strains. The H275Y and N295S amino acid mutations associated with oseltamivir resistance were not found in the circulating novel influenza (H1N1) strains.

CONCLUSIONTwo major waves of the novel influenza A (H1N1) outbreaks occurred in Shanghainese children during 2009-2011. Institutional children were the major affected individuals during the 2009 pandemic wave. Households and schools were the main sites of transmission among children during influenza pandemic. Influenza vaccination should be enhanced in children and their close family contacts. The novel influenza A (H1N1) virus in Shanghai has not undergone significant genetic changes. Oseltamivir is effective for the treatment of the novel influenza A (H1N1) virus.

Adolescent ; Amino Acid Sequence ; Antiviral Agents ; pharmacology ; Child ; Child, Preschool ; China ; epidemiology ; Drug Resistance, Viral ; Female ; Hemagglutinins, Viral ; genetics ; Humans ; Infant ; Influenza A Virus, H1N1 Subtype ; classification ; genetics ; isolation & purification ; Influenza, Human ; drug therapy ; epidemiology ; pathology ; virology ; Male ; Molecular Epidemiology ; Molecular Sequence Data ; Neuraminidase ; genetics ; Oseltamivir ; pharmacology ; Pandemics ; Viral Vaccines ; genetics ; immunology

OBJECTIVEAccording to the information obtained from the revision of total hip arthroplasty, the situations of the artificial femoral stem under physiological stress were analyzed preliminarily. In order to accumulate clinical experience, the discussions about how to enlongate the life of artifical joints were performed.

METHODSFifty-three patients required revision operations were selected, including 28 males and 25 females,with an average age of 74.66 years old (61 to 84 years old). The average life of artificial joints was 18.24 years (3 to 27 years). The initial weightbearing was started 11 days (5 to 16 days) after the first operation. The main reasons for the revision were the spontaneous loosening and trauma. Based on imaging and surgical findings, as well as the histological pathology, the situations of the stems in human bodies were determined.

RESULTSFemoral prosthesis would sink under physiological stress. The design of femoral stems, motion of patients', and bone growth determined the secondary stability. Straight stems were helpful for physiological subsidence of prosthesis, achieving the stability with close bone-implant contact by bone growth,which allowed the patient to do early landing exercise. The collared prosthesis and prosthesis combined with internal fixation limited the subsidence of femoral stems. Their stability depends on the time of initial placement and the bone growth for supporting. Delaying the inital weightbearing was suggested for patients with these protheses.

CONCLUSIONAccording to the actual situation of the patients, the appropriate chosen of femoral stems and time to perform the weightbearing can extend the life of the femoral prosthesis.

Aged ; Aged, 80 and over ; Arthroplasty, Replacement, Hip ; adverse effects ; methods ; Female ; Hip Prosthesis ; Humans ; Male ; Middle Aged ; Prosthesis Design

OBJECTIVETo evaluate the indications, surgical techniques and clinical effects of the fixation of posterior malleolus in complicated external rotation ankle fractures and illuminate the importance of anatomical reduction and rigid internal fixation of posterior malleolar fracture.

METHODSFrom July 2007 to June 2009, 32 patients were treated with open reduction and internal fixation,involving 21 males and 11 females with an average age of 36 years old (ranged from 19 to 68 years old). According to Lauge-Hansen classification: 13 cases of pronation-external rotation type (IV), 7 and 12 cases of supination-external rotation type (III and IV). Postoperative functional exercise and regular follow-up were done and outcomes were assessed.

RESULTSAll the patients were followed up,and the duration ranged from 7 to 20 months,with an average of 14.5 months. According to Ankle Hindfoot Clinical Rating System of the American Orthopaedic Foot & Ankle Society (AOFAS), 23 patients got an excellent result, 7 good, 2 fair, 0 poor.

CONCLUSIONAnatomical reduction and rigid internal fixation of posterior malleolar fracture as well as early functional exercise have significance in restoring ankle joint function and reducing the incidence of traumatic arthritis.

Adult ; Aged ; Ankle Injuries ; surgery ; Female ; Fracture Fixation, Internal ; methods ; Fractures, Bone ; surgery ; Humans ; Male ; Middle Aged ; Rotation

BACKGROUND: Although Becker's nevus (BN) is a relatively common disease, the systematic studies of clinicopathological and immunohistochemical results are poorly reported. OBJECTIVE: To investigate the clinicopathological features and immunohistochemical alterations of keratinocyte proliferation, melanocyte density, smooth muscle hyperplasia and nerve fiber distribution in BN. METHODS: Clinical and pathological data were collected in 60 newly-diagnosed BN cases. Immunohistochemical stain of Ki-67, Melan-A, keratin 15, smooth muscle actin and protein gene product 9.5 was performed in 21 cases. RESULTS: The median diagnostic and onset age was 17 and 12 years, respectively. Skin lesions usually appeared on the upper trunk and upper limbs. The pathological features included the rete ridge elongation and fusion and basal hyperpigmentation. Epidermal Ki-67, Melan-A and keratin 15 expression and dermal nerve fiber length were significantly higher in lesional and perilesional skin than in normal skin (p<0.05~0.01), while smooth muscle actin expression was upregulated only in skin lesion (p<0.05). CONCLUSION: Although the clinical diagnosis of BN is often straightforward, histopathology is helpful to differentiate from other pigmentary disorders. The hyperproliferation of keratinocytes, melanocytes, arrector pili muscle and dermal nerve fibers could be involved in the pathogenesis of BN.
Actins ; Age of Onset ; Diagnosis ; Hyperpigmentation ; Hyperplasia* ; Keratin-15 ; Keratinocytes* ; MART-1 Antigen ; Melanocytes* ; Muscle, Smooth* ; Nerve Fibers* ; Nevus* ; Skin ; Upper Extremity

Objective To report initial experience and the indications of retroperitoneal laparoscop- ic partial nephrectomy.Methods From December 2001 to October 2005,23 patients (including 14 cases of renal cell carcinoma,5 of hamartoma and 4 of duplex kidney) underwent retroperitoneal laparoscopic par- tial nephrectomy.One of the patients had solitary kidney.Results All the operations were successful ex- cept for only 1 requiring conversion to laparoscopic nephrectomy because of bleeding resulting from blocking anterior branch of renal artery.The mean operative time was 121 min (60-240 min),and mean ischemic time was 32 min (20-55 min).The estimated bleeding volume ranged from 100 ml to 300 ml,and no pa- tient needed blood transfusion.Pathology showed negative surgical margins in 14 cases of renal cell carcinoma and confirmed the diagnosis of hamartoma in 5 cases.One patient with duplex kidney required open partial nephrectomy because of renal cystic mass resulting from incomplete resection.Conclusions Retroperito- neal laparoscopic partial nephrectomy offers a new effective and minimally invasive treatment for selected pa- tients with renal mass.The long-term effects of the procedure need further investigation.

OBJECTIVETo study the effects of TNF-α on ICAM-1 and LFA-1 expression in peripheral blood mononuclear cells (PBMC) of children with febrile seizures (FS).

METHODSSixteen children with FS and 16 age- and gender-matched healthy children were enrolled. The samples of PBMC from FS children were randomized into two groups with or without TNF-α treatment (TNF-α concentration 1.0 ng/mL). PBMC were purified and cultured with a conventional method in vitro. The expression of ICAM-1 and LFA-1 in PBMC was determined by flow cytometry (FCM).

RESULTSICAM-1［(20±9)% vs (14±7)%)］and LFA-1［(43±16)% vs (30±16)%］expression in PBMC in the untreated FS group was significantly higher than that in the normal control group (P<0.05). Compared with the untreated FS group, the treatment with TNF-α remarkably increased the ICAM-1 expression［(27±11)%］(P<0.05). PBMC LFA-1 expression［(52±21)%］in the TNF-α-treated group was higher than that in the untreated FS group, although there were no statistical differences between the two groups.

CONCLUSIONSTNF-α treatment may increase LFA-1 and ICAM-1 expression in PBMC of children with FS.

Child ; Child, Preschool ; Female ; Humans ; Infant ; Intercellular Adhesion Molecule-1 ; blood ; Leukocytes, Mononuclear ; chemistry ; drug effects ; Lymphocyte Function-Associated Antigen-1 ; blood ; Male ; Seizures, Febrile ; immunology ; Tumor Necrosis Factor-alpha ; pharmacology