Intravoxel Incoherent Motion Magnetic Resonance Imaging for Prediction of Induction Chemotherapy Response in Locally Advanced Hypopharyngeal Carcinoma: Comparison With Model-Free Dynamic Contrast-Enhanced Magnetic Resonance Imaging.

BACKGROUND: Multiparametric intravoxel incoherent motion (IVIM) provides diffusion and perfusion information for the treatment prediction of cancer. However, the superiority of IVIM over dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) in locally advanced hypopharyngeal carcinoma (LAHC) remains unclear. PURPOSE: To compare the diagnostic performance of IVIM and model-free DCE in assessing induction chemotherapy (IC) response in patients with LAHC. STUDY TYPE: Prospective. POPULATION: Forty-two patients with LAHC. FIELD STRENGTH/SEQUENCE: 3.0 T MRI, including IVIM (12 b values, 0-800 seconds/mm2 ) with a single-shot echo planar imaging sequence and DCE-MRI with a volumetric interpolated breath-hold examination sequence. IVIM MRI is a commercially available sequence and software for calculation and analysis from vendor. ASSESSMENT: The IVIM-derived parameters (diffusion coefficient [D], pseudodiffusion coefficient [D*], and perfusion fraction [f]) and DCE-derived model-free parameters (Wash-in, time to maximum enhancement [Tmax], maximum enhancement [Emax], area under enhancement curve [AUC] over 60 seconds [AUC60 ], and whole area under enhancement curve [AUCw ]) were measured. At the end of IC, patients with complete or partial response were classified as responders according to the Response Evaluation Criteria in Solid Tumors. STATISTICAL TESTS: The differences of parameters between responders and nonresponders were assessed using Mann-Whitney U tests. The performance of parameters for predicting IC response was evaluated by the receiver operating characteristic curves. RESULTS: Twenty-three (54.8%) patients were classified as responders. Compared with nonresponders, the perfusion parameters D*, f, f × D*, and AUCw were significantly higher whereas Wash-in was lower in responders (all P-values <0.05). The f × D* outperformed other parameters, with an AUC of 0.84 (95% confidence interval [CI]: 0.69-0.93), sensitivity of 79.0% (95% CI: 54.4-93.9), and specificity of 82.6% (95% CI: 61.2-95.0). DATA CONCLUSION: The IVIM MRI technique may noninvasively help predict the IC response before treatment in patients with LAHC. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY: Stage 2.

A Nomogram for Pretreatment Prediction of Response to Induction Chemotherapy in Locally Advanced Hypopharyngeal Carcinoma.

BACKGROUND: Induction chemotherapy (IC) significantly improves the rate of larynx preservation; however, some patients could not benefit from it. Hence, it is of clinical importance to predict the response to IC to determine the necessity of IC. We aimed to develop a clinical nomogram for predicting the treatment response to IC in locally advanced hypopharyngeal carcinoma. METHODS: We retrospectively include a total of 127 patients with locally advanced hypopharyngeal carcinoma who underwent MRI scans prior to IC between January 2014 and December 2017. The clinical characteristics were collected, which included age, sex, tumor location, invading sites, histological grades, T-stage, N-stage, overall stage, size of the largest lymph node, neutrophil-to-lymphocyte ratio, hemoglobin concentration, and platelet count. Univariate and multivariate logistic regression was used to select the significant predictors of IC response. A nomogram was built based on the results of stepwise logistic regression analysis. The predictive performance and clinical usefulness of the nomogram were determined based on the area under the curve (AUC), calibration curve, and decision curve. RESULTS: Age, T-stage, hemoglobin, and platelet were four independent predictors of IC treatment response, which were incorporated into the nomogram. The AUC of the nomogram was 0.860 (95% confidence interval [CI]: 0.780-0.940), which was validated using 3-fold cross-validation (AUC, 0.864; 95% CI: 0.755-0.973). The calibration curve demonstrated good consistency between the prediction by the nomogram and actual observation. Decision curve analysis shows that the nomogram was clinically useful. CONCLUSION: The proposed nomogram resulted in an accurate prediction of the efficacy of IC for patients with locally advanced hypopharyngeal carcinoma.

A Robust Gene Expression Prognostic Signature for Overall Survival in High-Grade Serous Ovarian Cancer.

The objective of this research was to develop a robust gene expression-based prognostic signature and scoring system for predicting overall survival (OS) of patients with high-grade serous ovarian cancer (HGSOC). Transcriptomic data of HGSOC patients were obtained from six independent studies in the NCBI GEO database. Genes significantly deregulated and associated with OS in HGSOCs were selected using GEO2R and Kaplan-Meier analysis with log-rank testing, respectively. Enrichment analysis for biological processes and pathways was performed using Gene Ontology analysis. A resampling/cross-validation method with Cox regression analysis was used to identify a novel gene expression-based signature associated with OS, and a prognostic scoring system was developed and further validated in nine independent HGSOC datasets. We first identified 488 significantly deregulated genes in HGSOC patients, of which 232 were found to be significantly associated with their OS. These genes were significantly enriched for cell cycle division, epithelial cell differentiation, p53 signaling pathway, vasculature development, and other processes. A novel 11-gene prognostic signature was identified and a prognostic scoring system was developed, which robustly predicted OS in HGSOC patients in 100 sampling test sets. The scoring system was further validated successfully in nine additional HGSOC public datasets. In conclusion, our integrative bioinformatics study combining transcriptomic and clinical data established an 11-gene prognostic signature for robust and reproducible prediction of OS in HGSOC patients. This signature could be of clinical value for guiding therapeutic selection and individualized treatment.

[Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis].

In order to investigate the genetic variations and the clinical manifestations of a range of congenital ectrodactyly family and to summarize the split hand/foot malformation (SHFM) types and their related pathogenic genes, we conducted phenotypic analyses of patient's limbs by physical and X-ray examination. The haplotypes were analyzed by using the extracted genes from peripheral blood on D10S1709, D10S192, D10S597, D10S1693 and D10S587 loci, and the mutation duplication loci were confirmed by Array-CGH detection. The pathogenic factors and inheritance pattern of SHFM were analyzed based on family investigation and gene analysis. Results demonstrate the proband's phenotype is typically of a congenital SHFM which is manifested by missing bilateral index and middle fingers, short bilateral thumbs, deformed left ring finger with webbing of the skin missing at the middle finger; bilateral big toe with the second and the third toe missing, fourth and fifth toe fusion leading to a deformed toe separated from the first toe by the middle of the foot. The haplotype analyses show that there is a repeat of at least 610 kb in chromosome 10q24.31-10q24.32 region. Array-CGH analysis shows 10q24.31 (102 832 650-103 511 083) ×3. Our results demonstrate that the pathogenic gene variation of ectrodactyly in this family is due to duplication of 10q24.31 (102 832 650~103 511 083). The haplotype 165-251-289-219-102 can be used as a disease marker for detecting 10q24.31~10q24.32 allele for SHFM.

Intraosseous schwannoma of the mobile spine: a report of twenty cases.

PURPOSE: To clarify the clinical features, surgical strategies, and outcomes of intraosseous schwannoma (IOS) of the mobile spine. METHODS: We retrospectively reviewed patients with primary benign spinal schwannoma who underwent surgery in our orthopedic department. RESULTS: A total of 101 patients with primary benign schwannoma located in the mobile spine underwent surgery in our orthopedic department from 2005 to 2015. Twenty-five patients presented with aggressive features. Twenty patients were regularly followed up, twelve with lesions in the cervical spine, six with lesions in the thoracic region, and two with lesions in the lumbar spine. Preoperative CT-guided biopsy was performed in fourteen cases; the accuracy of diagnosis was 100%, and IOS is not histologically different from conventional schwannoma. The computed tomography (CT) scan revealed expansile and osteolytic bone destruction in all these cases, with six patients having pathological fracture. On T2-weighted magnetic resonance imaging, the lobulated schwannomas showed heterogeneous signal intensity and significant heterogeneous enhancement on post-contrast images. Gross total resection was performed in seventeen patients and subtotal resection in three. Tumor-involved nerve roots resection were documented to decrease local recurrence in fourteen cases. The visual analog scale score decreased from 5.66 ± 1.79 preoperatively to 1.16 ± 1.77 at the final follow-up. No local recurrence was noticed at the final follow-up. CONCLUSION: CT-guided biopsy is effective for the preoperative diagnosis of spinal IOS. Total resection is the optimal treatment for IOS, whereas subtotal resection could be an alternative choice for high-risk cases. These slides can be retrieved under electronic supplementary material.

The role of metallothionein in a dinitrofluorobenzene-induced atopic dermatitis-like murine model.

Atopic dermatitis (AD), one of the most common chronic eczematous skin disorders, is associated with cutaneous hyperactivity as a response to environmental triggers. Metallothionein (MT) plays a constitutive defensive role in the response to noxious stimuli. However, the role of MT in AD development is unclear. Using an AD-like murine model created by the topical application of 2.4-dinitrofluorobenzene, we studied the dynamic pattern of MT expression on AD development. AD-like lesions were evaluated based on the development of erythema, edema, exfoliation, scaling, increased thickness, and increased weight of lesional skin. These characteristics of AD-like lesions and thymic stromal lymphopoietin (TSLP) expression peaked at Day 1 of the establishment of our model and gradually alleviated over time. The MT expression in lesional skin was increased and peaked at Day 3. By immunostaining, increased expression of MT was translocated from the cytoplasm to the nucleus. MT-1/2 knockout (MT-/-) mice and wild type (MT+/+) mice were also used to evaluate the role of MT on AD. MT-/- mice had greater edema scores, thickness, lesional skin weight, as well as more CD4+ T cells, TSLP, superoxide dismutase, and NDUFAF1. These results suggest that MT may play a protective role against AD development, and that antioxidant and nuclear protective mechanisms may be involved.

Intraoperative vertebroplasty during surgical decompression and instrumentation for aggressive vertebral hemangiomas: a retrospective study of 39 patients and review of the literature.

BACKGROUND CONTEXT: Aggressive (Enneking stage 3, S3) vertebral hemangiomas (VHs) are rare, which might require surgery. However, the choice of surgery for S3 VHs remains controversial because of the rarity of these lesions. PURPOSE: We reported our experience of treating S3 VHs, and evaluated the effectiveness and safety of intraoperative vertebroplasty during decompression surgery for S3 VHs. STUDY DESIGN: This is a retrospective study. PATIENT SAMPLE: Thirty-nine patients with a definitive pathologic diagnosis of aggressive VHs who underwent primary decompression surgery in our department were included in this study. OUTCOME MEASURES: Basic data such as surgical procedure, surgical duration, estimated blood loss during surgery, and pathology were collected. The modified Frankel grade was used to evaluate neurologic function. Enneking staging was based on radiological findings. METHODS: We retrospectively examined aggressive VHs with neurologic deficits. Surgery was indicated if the neurologic deficit was severe or developed quickly or if radiotherapy was ineffective. Decompression surgery was performed. Intraoperative vertebroplasty during posterior decompression has been used since 2009. If contrast-enhanced computed tomography (CT) revealed a residual lesion, we recommended adjuvant radiotherapy with 40-50 Gy to prevent recurrence. Patients' basic and surgical information was collected. The minimum follow-up duration was 18 months. This study was partially funded by Peking University Third Hospital, Grant no. Y71508-01. RESULTS: Average age of the 39 patients with S3 VHs who underwent primary decompression surgery was 46.2 (range, 10-69) years. All patients had neurologic deficits caused by aggressive VHs. Aggressive VH lesions were located in the cervical, thoracic, and lumbar spine in 2, 32, and 5 patients, respectively. The decompression-alone group had 17 patients, and the decompression plus intraoperative vertebroplasty group had 22. There were no statistically significant intergroup differences in preoperative information (p>.05). The average estimated blood losses were 1,764.7 mL (range, 500-4,000 mL) and 1,068.2 mL (range, 300-3,000 mL) in the decompression-alone group and decompression plus vertebroplasty group, respectively (p=.017). One patient who underwent primary decompression alone without adjuvant radiotherapy experienced recurrence after the first decompression. The average follow-up was 50.2 (range, 18-134) months, and no cases of recurrence were observed at the last follow-up. CONCLUSIONS: Our results suggest that posterior decompression effectively provides symptom relief in patients with aggressive (S3) VHs with severe spinal cord compression. Intraoperative vertebroplasty is a safe and effective method for minimizing blood loss during surgery, whereas adjuvant radiotherapy or vertebroplasty helps in minimizing recurrence after decompression.

Recurrence Factors in Giant Cell Tumors of the Spine.

BACKGROUND: Giant cell tumors (GCTs) are benign, locally aggressive tumors. We examined the rate of local recurrence of spinal GCTs and sought to identify recurrence factors in patients who underwent surgery. METHODS: Between 1995 and 2014, 94 mobile spine GCT patients were treated at our hospital, comprising 43 male and 51 female patients with an average age of 33.4 years. Piecemeal intralesional spondylectomy and total en bloc spondylectomy (TES) were performed. Radiotherapy was suggested for recurrent or residual GCT cases. Since denosumab was not available before 2014 in our country, only interferon and/or zoledronic acid was suggested. RESULTS: Of the 94 patients, four underwent conservative treatment and 90 underwent operations. Seventy-five patients (79.8%) were followed up for a minimum of 24 months or until death. The median follow-up duration was 75.3 months. The overall recurrence rate was 37.3%. Ten patients (13.3%) died before the last follow-up (median: 18.5 months). Two patients (2.6%) developed osteogenic sarcoma. The local recurrence rate was 80.0% (24/30) in patients who underwent intralesional curettage, 8.8% (3/34) in patients who underwent extracapsular piecemeal spondylectomy, and 0 (0/9) in patients who underwent TES. The risk factors for local recurrence were lesions located in the cervical spine (P = 0.049), intralesional curettage (P < 0.001), repeated surgeries (P = 0.014), and malignancy (P < 0.001). Malignant transformation was a significant risk factor for death (P < 0.001). CONCLUSIONS: Cervical spinal tumors, curettage, and nonintact tumors were risk factors for local recurrence. Intralesional curettage and malignancy were the most important significant factors for local recurrence and death, respectively.

Surgical treatment options for aggressive osteoblastoma in the mobile spine.

PURPOSE: Osteoblastoma (OBL) is a benign bone tumor with considerable recurrence potential. Resection is the mainstay for the treatment of Enneking stage 3 (st. 3) OBL. This retrospective study aimed to verify the appropriate surgical strategy for st. 3 lesions in the mobile spine. METHODS: 19 cases of st. 3 OBL was diagnosed between 2001 and 2011. Clinical, radiological, surgical, and follow-up data were analyzed. This series included 14 men and 5 women and the mean age at diagnosis was 30.4 years. The lesions were located in the cervical spine in ten cases, in the thoracic spine in eight, and in the lumbar spine in one. Fourteen patients were surgically treated for the first time (intact cases), and five were referred to us after previous unsuccessful treatments (non-intact cases). RESULTS: Before 2008, 11 patients underwent curettage followed by radiotherapy, including 5 non-intact cases and 6 intact cases. Tumor recurrence was observed in all five non-intact cases and four of the six intact cases. After 2008, eight intact patients underwent intralesional vertebrectomy, including six who underwent piecemeal total vertebrectomy and two who underwent intralesional en bloc vertebrectomy. All the eight patients had embolization before surgery. 18 patients had an average 67.3 months (range 36-148 months) of follow-up. Recurrence was not observed in any of these eight cases with intralesional vertebrectomy. CONCLUSION: Intralesional total vertebrectomy might be an appropriate choice for intact st. 3 OBL spine lesions. More cases with longer follow-up periods should be recruited in the future to better understand the treatment options available for this disease.

Diagnosis and treatment of vertebral hemangiomas with neurologic deficit: a report of 29 cases and literature review.

BACKGROUND CONTEXT: Vertebral hemangiomas (VHs) are called benign tumors but are actually just vascular malformations. The diagnosis and treatment for aggressive VHs is still controversial, due to their rarity. PURPOSE: To evaluate the safety and efficiency of the present diagnostic methods and treatment choices. STUDY DESIGN: A retrospective study of aggressive VHs with neurologic deficit. PATIENTS SAMPLE: A total of 29 consecutive aggressive VH cases were diagnosed and treated in our department since 2001. OUTCOME MEASURES: We routinely took anteroposterior and lateral spinal roentgenograms, computed tomography, and magnetic resonance images. METHODS: Trocar biopsy is indicated in suspected malignant cases. Radiotherapy was usually our first choice if the neurologic deficit was mild or developed slowly. Surgery was indicated if the neurologic deficit was severe or developed quickly or if the radiotherapy was not effective. RESULTS: This series included 12 males and 17 females, and the mean age at diagnosis was 44.0 years (range, 21-72 years). Ten patients had radiculopathy, 1 had cauda equina syndrome, and 18 cases had myelopathy. Twenty-one cases had lesions in the thoracic spine, 5 in the lumbar, and 3 in the cervical region. Eleven cases had untypical image findings, including five cases with pathologic vertebral fracture. The neurologic compression came from only epidural soft tumor mass in 18 cases, whereas it came from both bony compression and soft lesion in the other 11 cases. Ten cases had radiotherapy alone, but two failed and had surgery later. Twenty-one cases had surgery. In the 12 cases having surgical decompression without vertebroplasty, the average estimated blood loss was 1900 mL, and it was 1093 mL for the eight cases having decompression with vertebroplasty. The average follow-up was 51.1 months (range, 24-133 months). There was no recurrence in those cases with radiotherapy, whereas three had local recurrence in those six cases treated by surgical decompression alone without radiotherapy. CONCLUSIONS: In aggressive VHs, epidural soft-tissue compression was usually the main reason for neurologic deficit. In cases with rapid progressive and/or severe myelopathy, posterior decompression and stabilization could be combined with intraoperative vertebroplasty to reduce blood loss.

Polyostotic fibrous dysplasia involving the thoracic spine with myelopathy: case report and review of the literature.

BACKGROUND CONTEXT: Polyostotic fibrous dysplasia (PFD) seldom involves the thoracic spine and usually presents with back pain. PURPOSE: To describe an extremely rare presentation of an uncommon disease. STUDY DESIGN/SETTING: We present a case report from a university hospital. METHODS: We report a case of symptomatic thoracic PFD associated with myelopathy and pathologic fracture. A thorough search of PubMed/MEDLINE was performed for the terms "polyostotic fibrous dysplasia," "spine," and "neurological deficit." RESULTS: The patient was treated by posterior laminectomy, vertebroplasty, and pedicle screw fixation and fusion. Satisfactory results were achieved, and there were no complications. CONCLUSIONS: In the spine, PFD may lead to pathologic fracture and myelopathy even after adolescence. Vertebroplasty with or without decompression and fixation may be the appropriate option for cases with myelopathy.

[Medical therapy of polyostotic fibrous dysplasia of the spinal column].

OBJECTIVE: To discuss treatments of spinal polyostotic fibrous dysplasia (PFD) and their clinical outcomes. METHODS: A group of spinal PFD patients treated in orthopaedic department of Peking University Third Hospital from January 2005 to December 2010 was retrospectively reviewed. There were 3 males and 1 female. The age was 53, 17, 32, 38 years, respectively. Two cases underwent preoperative CT-guided biopsy and the other two had previous pathologic results. All the patients complained localized pain and VAS (visual analogue scale) ranged from 3 to 5. All the cases had pathologic fractures and 3 cases had neurological impairment. The surgical procedures for each patient were as follows: lesion resection combined with cervicothoracic fixation and fusion; reduction combined with occipitocervical fixation and fusion; vertebroplasty (VP); VP combined with posterior decompression and fixation. RESULTS: Fibrous dysplasia in each patient was confirmed by postoperative pathological examination. The operation time was 420, 150, 120, 300 minutes and blood loss was 3 400, 500, 200, 2 000 mL. The follow-up period was 84, 24, 34, 12 months. The primary symptoms were fully relieved without any surgery related complication. There was no symptom recurrence or lesion progress during the follow-up. No signs of radiological improvements (filling of lytic lesion, cortical thickening, or both) were detected. CONCLUSION: Spinal PFD is a rare disease and mostly affects adults. Conventional excision therapy is an effective and reliable treatment for spinal PFD, but vertebroplasty is less invasive. VP alone might be more appropriate for patients complaining only pain symptoms and/or with pathologic fractures. VP combined with limited decompression and stabilization may be more suitable for patients with neurological deficits.

Fibrous dysplasia of the mobile spine: report of 8 cases and review of the literature.

STUDY DESIGN: Eight cases of fibrous dysplasia (FD) of the mobile spine treated surgically at the same center were retrospectively reviewed. OBJECTIVE: The study focuses on the issues concerning the diagnosis of FD and the outcome of conventional surgical techniques (resection or curettage) and vertebroplasty in the treatment of spinal FD lesions. SUMMARY OF BACKGROUND DATA: Surgical excision or curettage is considered the standard treatment of spinal FD, whereas vertebroplasty is also performed occasionally. METHODS: Between January 2005 and October 2010, 8 consecutive patients with spinal FD underwent conventional surgery (6 cases) or combined with vertebroplasty (2 cases). Before surgery, 4 patients underwent percutaneous computed tomography-guided biopsy, whereas 3 had incorrect histopathological diagnosis. In each of the 8 cases, the final pathological diagnosis was established after their open surgery. RESULTS: Pain relief was observed postoperatively in all patients. Three patients with neurological impairment became symptom-free after surgery. No cement extravasation was observed. Screw loosening and allograft resorption were observed in 1 case each. Signs of radiological improvement (filling of lytic lesions or thickening of the bone cortex surrounding the lesions) were not detected in any case. CONCLUSION: The radiological features of spinal FD may be atypical. The rate of correct preoperative pathological diagnosis by computed tomography-guided biopsy was low for patients with suspected spinal FD. Vertebroplasty is probably a valuable therapeutic option for spinal FD with pathological fractures. Limited decompression and stability with vertebroplasty might be recommended for patients with neurological deficits.

[HIV-1 subtype and the distribution in Yunnan province].

OBJECTIVE: To understanding the genetic subtype and its population and regional distribution of HIV-1 strains circulating in Yunnan province. METHODS: 788 plasma specimens collected in 2008-2009 from 15 distracts of Yunnan, were enrolled. Viral RNA were extracted and subjected to RT-PCR. 1584 bp full length gag gene, 3147 bp full length pol gene and 558 bp env (C2V3) fragment were amplified and directly sequenced. Full length gag and pol genes were connected together as a complete genetic region (location on HXB2: 790 - 5096) for genotyping. RESULTS: Of the 788 plasma specimens, a total number of 1728 genomic sequences including 599 gag, 564 pol and 525 env (C2V3) were successfully amplified and sequenced, with genotype of 617 samples identified. The subtypes of HIV-1 strains circulated in Yunnan were with the order of constituent ratio CRF08_BC (50.2%), CRF01_AE (25.0%), unknown recombinant forms (10.2%), CRF07_BC (9.2%), subtype C (2.9%) and subtype B (B') (2.4%). The distributions of subtypes showed significant regional differences and could be roughly divided into two forms:the CRF08_BC predominant areas represented by Lincang and Kunming, and the areas with CRF08_BC together with CRF01_AE coexistence, represented by Dehong and Xishuangbanna. The unknown recombinant forms accounted for more HIV infection in ethnic minorities (17.0%) than in ethnic Han (6.7%, P < 0.01). The distribution of subtypes varied significantly in the two primary routes of transmission for those infected through heterosexual contact. CRF08_BC and CRF01_AE were the dominant subtypes, accounting for 52.7% and 29.1% respectively. However, in IDUs, CRF08_BC strains accounted for half of the infection, while only 4.5% of the infections were caused by CRF01_AE, CRF07_BC while the unique recombinant forms were responsible for 15.5% infections. Of the 63 unknown recombinant forms, most (74.6%) were B (B') recombinant with C, while 25% were mosaic B and/or C fragments on the bases of CRF01_AE genome. CONCLUSION: The subtypes of HIV-1 strains circulated in Yunnan were complicated under the significant differences of regions, ethnics or routes of transmission.

Aggressive vertebral hemangioma of the thoracic spine without typical radiological appearance.

PURPOSE: Vertebral hemangioma (VH) is virtually vascular malformation, which is usually asymptomatic. Only 3.7 % of VH may become active and symptomatic, and 1 % may invade the spinal canal and/or paravertebral space. Treatment protocols for active or aggressive VHs are still in controversy. Reported treatments include radiotherapy, vertebroplasty, direct alcohol injection, embolization, surgery and a combination of these modalities. METHODS: A 41-year-old lady was presented with 18 month history of intermittent back pain. CT revealed T5 osteolytic lesion with epidural and paravertebral extension. The first CT guided biopsy yielded little information. RESULTS: Histopathological diagnosis of the second biopsy was VH. Vertebroplasty, posterior decompression and fixation were performed followed by postoperative radiotherapy. Her symptoms were resolved immediately after the operation. At 12 months follow-up, no recurrence was detected by CT with contrast enhancement. CONCLUSION: Surgical decompression, vertebroplasty and fixation are safe and effective for aggressive VH. More attention is needed in determining the algorithm for the diagnosis and treatment of aggressive VH.

[Malakoplakia of the prostate: a case report].

Malakoplakia of the prostate is a rarely reported granulomatous inflammatory disorder which may clinically mimic carcinoma of the prostate gland. This paper reported 1 case of malakoplakia of the prostate which was successfully diagnosed with the use of transrectral ultrasound and ultrasound-guided needle biopsy, and the cases and related articles were reviewed. The patient was successfully cured by the use of compound sulfamethoxazole tablet (SMZ-TMP) at the same time. Histologic examination is required to make the correct diagnosis. Biopsy of the prostate and antibiotics should be used clinically.

Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type.

We have previously reported the second familial ichthyosis hystrix strongly resembling Lambert type in clinical features, now this family has expanded to three generations, including three patients and five unaffected individuals. The purpose of this study was to investigate the molecular basis of this family. Paraffin-embedded skin sections were stained using keratin 1 (K1), K2, K10, K5+14 and loricrin antibodies. Genomic DNA isolated from blood samples was used to carry out a polymerase-chain-reaction. Immunohistochemistry showed that the distributions, but not the densities of K1/K2/K10 were dramatically changed in the patients. Unlike normal expression of K1/K10 from suprabasal layers and K2 from upper spinous layers, K1/K10 was expressed later from upper spinous layers and K2 was expressed earlier from basal layers; and they were densely aggregated around the nucleus rather than the normal regular distribution in the cytoplasm. DNA sequencing did not reveal any pathogenic mutations in candidate genes (KRT1, KRT2, KRT10 and plakoglobin) in keratin gene clusters. Linkage analysis also excluded the possibility of causative mutations in the epidermal differentiation complex on 1q, desmoplakin gene on 6p and desmosomal cadherin gene cluster on 18q regions. Other genes encoding proteins interacting with keratins might be pathogenic in this rare disease and should be studied further.

[Feasibility of using dried blood spots to detect HIV drug resistance genotyping].

OBJECTIVE: This study aimed at exploring the feasibility of using dried blood spots (DBS) to detect HIV drug resistance genotyping in China by comparing the results of drug resistance from DBS, plasma and whole blood samples. METHODS: Blood samples were collected from 39 AIDS patients from Anhui (10), Yunnan (13), Hunan (6) and Xinjiang (10) provinces and autonomous regions. The HIV strains that infected these patients covered all the major HIV-1 subtypes prevailing in China (B, CRF01_AE, CRF07_BC). HIV drug resistance genotyping assay was performed on DBS as well as on the whole blood and plasma samples from the same patients simultaneously by using an in-house nest RT-PCR method. Drug resistance levels were determined based on Stanford University HIV drug resistance database, and the results from these three types of samples were compared. RESULTS: The percentages of successful amplification of protease and reverse transcriptase regions in the pol gene were 95% (37/39) from DBS, 92% (36/39) from whole blood and 100% (39/39) from plasma samples. The sequences from the three types of samples showed more than 99% identity.86% (31/36) of the DBS samples had the same set of drug resistance mutations as those which were detected from plasma samples. The differences probably resulted from mixed bases. CONCLUSIONS: There was no major difference in detecting HIV drug resistance genotyping among DBS, plasma and whole blood samples. Therefore, DBS is useful for detection of HIV drug resistance genotyping and is particularly valuable in developing countries like China, especially in remote rural regions.

[Roles of p57KIP2 immunohistochemistry and flow cytometry in diagnosis of molar pregnancy].

OBJECTIVE: To study the value of combined use of paternally imprinted gene product p57(KIP2) immunohistochemistry and flow cytometry in the differential diagnosis of placental hydropic diseases. METHODS: A total of 32 cases of hydropic placenta with DNA polymorphism information were collected, and the genetic results were used as basis for the diagnosis of complete hydatidiform moles (CHM), partial hydatidiform moles (PHM) or hydropic abortions. All cases were examined by histology, p57(KIP2) immunohistochemical staining (EnVision method) and flow cytometry DNA ploidy analysis. The p57(KIP2) immunohistochemical staining and DNA ploidy results were compared with the genetic results. RESULTS: In CHM, p57(KIP2) negative rates were 95.2% (20/21), whereas all the 11 cases of non-CHM (7 cases PHM and 4 cases hydropic abortions) were positive (11/11). In 11 p57(KIP2) -positive cases, 7 cases with triploidy and 4 cases with diploidy by flow cytometry were proven to be PHM and hydropic abortions by genetic analysis, respectively. Overall, 96.9% (31/32) cases of hydropic placentas were correctly diagnosed by combined use of p57(KIP2) immunohistochemistry and flow cytometry. CONCLUSIONS: p57(KIP2) immunohistochemical negativity is a reliable index for the diagnosis of CHM. Combined flow cytometry DNA ploidy and p57(KIP2) immunohistochemistry are useful in the pathological differentiation of CHM, PHM and hydropic abortions.