Xanthoma combining osteonecrosis in knee joint: a case report.

Xanthoma typically occurs in the subcutaneous tissues, with rare cases of xanthoma in the joints. However, the case of knee joint osteonecrosis combined with xanthoma is even more uncommon. In this article, we described a 50-year-old female patient who suffered xanthoma in the knee joint on the basis of osteonecrosis of the knee joint. The primary clinical symptoms were knee joint pain and limited mobility. The patient initially received conventional treatment for osteonecrosis. However, there was no significant improvement. Later, we found a synovial xanthoma in the patient's knee. Finally, she underwent arthroscopic excision of the knee joint synovial xanthoma. Following the procedure, her VAS score decreased from 7 to 2, and knee joint mobility increased from 10-103° to 10-140°. Through our follow-up, the patient did not exhibit symptom recurrence. This case is valuable as it provides a feasible therapeutic approach for future clinical applications.

High-temporal resolution DCE-MRI improves assessment of intra- and peri-breast lesions categorized as BI-RADS 4.

BACKGROUND: BI-RADS 4 breast lesions are suspicious for malignancy with a range from 2 to 95%, indicating that numerous benign lesions are unnecessarily biopsied. Thus, we aimed to investigate whether high-temporal-resolution dynamic contrast-enhanced MRI (H_DCE-MRI) would be superior to conventional low-temporal-resolution DCE-MRI (L_DCE-MRI) in the diagnosis of BI-RADS 4 breast lesions. METHODS: This single-center study was approved by the IRB. From April 2015 to June 2017, patients with breast lesions were prospectively included and randomly assigned to undergo either H_DCE-MRI, including 27 phases, or L_DCE-MRI, including 7 phases. Patients with BI-RADS 4 lesions were diagnosed by the senior radiologist in this study. Using a two-compartment extended Tofts model and a three-dimensional volume of interest, several pharmacokinetic parameters reflecting hemodynamics, including Ktrans, Kep, Ve, and Vp, were obtained from the intralesional, perilesional and background parenchymal enhancement areas, which were labeled the Lesion, Peri and BPE areas, respectively. Models were developed based on hemodynamic parameters, and the performance of these models in discriminating between benign and malignant lesions was evaluated by receiver operating characteristic (ROC) curve analysis. RESULTS: A total of 140 patients were included in the study and underwent H_DCE-MRI (n = 62) or L_DCE-MRI (n = 78) scans; 56 of these 140 patients had BI-RADS 4 lesions. Some pharmacokinetic parameters from H_DCE-MRI (Lesion_Ktrans, Kep, and Vp; Peri_Ktrans, Kep, and Vp) and from L_DCE-MRI (Lesion_Kep, Peri_Vp, BPE_Ktrans and BPE_Vp) were significantly different between benign and malignant breast lesions (P < 0.01). ROC analysis showed that Lesion_Ktrans (AUC = 0.866), Lesion_Kep (AUC = 0.929), Lesion_Vp (AUC = 0.872), Peri_Ktrans (AUC = 0.733), Peri_Kep (AUC = 0.810), and Peri_Vp (AUC = 0.857) in the H_DCE-MRI group had good discrimination performance. Parameters from the BPE area showed no differentiating ability in the H_DCE-MRI group. Lesion_Kep (AUC = 0.767), Peri_Vp (AUC = 0.726), and BPE_Ktrans and BPE_Vp (AUC = 0.687 and 0.707) could differentiate between benign and malignant breast lesions in the L_DCE-MRI group. The models were compared with the senior radiologist's assessment for the identification of BI-RADS 4 breast lesions. The AUC, sensitivity and specificity of Lesion_Kep (0.963, 100.0%, and 88.9%, respectively) in the H_DCE-MRI group were significantly higher than those of the same parameter in the L_DCE-MRI group (0.663, 69.6% and 75.0%, respectively) for the assessment of BI-RADS 4 breast lesions. The DeLong test was conducted, and there was a significant difference only between Lesion_Kep in the H_DCE-MRI group and the senior radiologist (P = 0.04). CONCLUSIONS: Pharmacokinetic parameters (Ktrans, Kep and Vp) from the intralesional and perilesional regions on high-temporal-resolution DCE-MRI, especially the intralesional Kep parameter, can improve the assessment of benign and malignant BI-RADS 4 breast lesions to avoid unnecessary biopsy.

[A novel indel NF1 mutation identified in a patient with neurofibromatosis type 1].

OBJECTIVE: To identify the genetic etiology in a Chinese patient with neurofibromatosis type 1 (NF-1). METHODS: All coding exons and the flanking sequences of neurofibromin 1 (NF1) gene from the patient were captured, individually barcoded and subjected to HiSeq2000 high-throughput sequencing. Suspected mutation was validated in the nuclear family members with Sanger sequencing. RESULTS: A novel indel mutation, c.789_790delAGinsT, was identified in the exon 8 of the NF1 gene in the patient but not in her asymptomatic parents. The mutation was predicted to have caused shifting of the reading frame and a premature downstream stop codon (p.K263Nfs*18). Two known polymorphisms, c.888+108 C>T (rs2953000) and c.888+118 G>T (rs2952999), was detected in the flanking of the indel mutation in the patient and her father. Sequencing chromatogram for the family indicates that above changes are located on the same chromosome. CONCLUSION: The c.789_790delAGinsT, as a de novo mutation occurring on the paternally derived chromosome, is most likely to be causative for the disease. Compared with Sanger sequencing, targeted next-generation sequencing is more efficient and can dramatically reduce the cost for the genetic testing of NF-1.

Membranous nephropathy with pulmonary cryptococcosis with improved 1-year follow-up results: A case report.

Cryptococcosis is frequently found in immunosuppressed patients. It is also a significant opportunistic infection in non-immunocompromised individuals. In this study, we present a rare case of membranous nephropathy (MN) with pulmonary cryptococcosis. A 33-year-old man with MN was referred to our hospital because of dyspnea and weakness for 1 week. Before the above symptoms occurred, the dose of Cyclosporin A was increased again for relapse of MN. Multiple massive or patchy high-density shadows were present on computed tomography of the lung. Initially the patient underwent empirical anti-bacterial therapy, which turned out to be ineffective. As the results of serum cryptococcal latex agglutination tests were positive, the administration of anti-fungal drugs was prescribed. The results of fungal culture and pathologic examination of the lung tissue revealed the findings consistent with Cryptococcus neoformans. The patient was successfully treated with voriconazole followed by fluconazole with satisfactory result. Therefore, in patients with chronic kidney disease, lung lesions with poor bactericidal effects of cephalosporins need further examination to make sure whether there is pulmonary cryptococcosis. Early diagnosis and treatment might contribute to good results. It is a problem worthy of consideration that whether immunosuppressive agents need to be discontinued or not during antifungal therapy.

Extramedullary plasmacytoma of the kidney in an HIV-positive patient: A case report.

RATIONALE: Extramedullary plasmacytoma (EMP) is a very rare malignant neoplasm arising from clonal proliferation of atypical plasma cells. Most EMPs involve mucosal lymphoid tissue, particularly in the nasopharyngeal area, respiratory tract, and head and neck region. Such neoplasms of the kidney in patients with a human immunodeficiency virus (HIV) infection are extremely rare. PATIENT CONCERNS: A 55-year-old male who had been diagnosed with HIV 1 year previously presented with a 2-week history of intermittent right abdominal pain and gross hematuria. DIAGNOSES: Ultrasonography and computed tomography detected a mass that occupied the upper half of the right kidney. A clinical diagnosis of a renal tumor was suspected. INTERVENTIONS: The patient subsequently underwent a retroperitoneal radical nephrectomy. The postoperative pathological diagnosis was solitary EMP of the kidney. Adjuvant radiation therapy was provided at doses of 50 Gy in 20 fractions. OUTCOMES: Currently, the patient is alive and disease free at 7 months postoperatively. To the best of our knowledge, this is the first case of a primary renal EMP in a patient with HIV. LESSONS: The present case illustrates that this rare type of solitary EMP associated with acquired immune deficiency syndrome can occur in the kidney. Additionally, although rare, solitary EMP should be considered in the differential diagnosis of a renal mass in HIV-infected patients.

Comparative effects of mercury chloride and methylmercury exposure on early neurodevelopment in zebrafish larvae.

Mercury (Hg) is a ubiquitous environmental toxicant with important public health implications. Hg causes neurotoxicity through astrocytes, Ca2+, neurotransmitters, mitochondrial damage, elevations of reactive oxygen species and post-translational modifications. However, the similarities and differences between the neurotoxic mechanisms caused by different chemical forms of Hg remain unclear. Zebrafish embryos were exposed to methylmercury (MeHgCl) or mercury chloride (HgCl2) (0, 4, 40, 400 nM) up for 96 h. HgCl2 exposure could significantly decrease survival rate, body length and eye size, delay the hatching period, induce tail bending and reduce the locomotor activity, and these effects were aggravated in the MeHgCl group. The compounds could increase the number of apoptotic cells in the brain and downregulate the expression of Shha, Ngn1 and Nrd, which contribute to early nervous development. The underlying mechanisms were investigated by metabolomics data. Galactose metabolism, tyrosine metabolism and starch and sucrose metabolism pathways were disturbed after HgCl2 or MeHgCl exposure. In addition, the levels of three neurotransmitters including tyrosine, dopamine and tryptophan were reduced after HgCl2 or MeHgCl exposure. Oxidative stress is related to metabolite changes, such as changes in the putrescine, niacinamide and uric acid contents in the HgCl2 group, and squalene in the MeHgCl group. These data indicated that downregulation of these genes and abnormal metabolic profile and pathways contribute to the neurotoxicity of HgCl2 and MeHgCl.

Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing.

BACKGROUND: Mutations of PKD1 and PKD2 accounted for the most cases of autosomal dominant polycystic kidney disease (ADPKD). The presence of the large transcript, numerous exons and complex reiterated regions within the gene has significantly complicated the analysis of PKD1 with routine PCR-based approaches. METHODS: We developed a strategy to analyze both the PKD1/PKD2 genes simultaneously using targeted next-generation sequencing (NGS). All coding exons plus the flanking sequences of PKD1 and PKD2 genes from probands were captured, individually barcoded and followed by HiSeq2000 sequencing. The candidate variants were validated by using classic Sanger sequencing. PKD1-specific primers were designed to amplify the replicated areas of PKD1 gene. RESULTS: Five novel variations and one known mutation in PKD1 gene were detected in five familial and one sporadic Chinese ADPKD patients. Through pedigree and bioinformatic analysis, five of them were identified as pathogenic mutations (p.G1319R, p.Y3781*, p.W4122*, p.Val700Glyfs*14, and p.Leu3656Trpfs*28) and one was as polymorphism (p.T2420I). CONCLUSIONS: Our result showed that targeted capture and NGS technology were effective for the gene testing of ADPKD disorder. Mutation study of PKD1 and PKD2 genes in Chinese patients may contribute to better understanding of the genetic diversity between different ethnic groups and enrich the mutation database in Asian population.