Abstract:
BACKGROUND:Previous publications indicated that genetic predisposition might play important roles in the onset of osteonecrosis of the femoral head (ONFH) in systemic lupus erythematosus (SLE). Some gene loci such as complement C3d receptor 2 (CR2), nitric oxide synthase 3 (NOS3), collagen type II alpha 1 chain (COL2A1), protein tyrosine phosphatase non-receptor type 22 (PTPN22), and transient receptor potential cation channel subfamily V member 4 (TRPV4) were reported to be involved in this process. AIM:To investigate whether the risk of ONFH in SLE is associated with single nucleotide variations (SNVs) in these five genes. METHODS:SNVs in the CR2, NOS3, COL2A1, PTPN22, and TRPV4 genes were examined by using FastTarget and Illumina Miseq sequencing technologies in 49 cases of SLE with ONFH. Burrows-wheeler aligner was used to align the sequencing reads to hg19, and GATK and Varscan programs were used to perform SNV calling. PolyPhen-2, SIFT, and MutationTaster were used to assess the functional effects of non-synonymous SNVs. RESULTS:Six of the 49 patients were confirmed to have low frequency SNVs, including one patient with SNVs in NOS3 (exon 6: c.814G>A: p.E272K and exon 7: c.814G>A: p.E272K.), four in COL2A1 (rs41263847: exon 29: c.1913C>T: p.T638I, exon 28: c.1706C>T: p.T569I, and rs371445823: exon 8: c.580G>A: p.A194T, exon 7: c.373G>A: p.A125T), and one in CR2 (rs45573035: exon 2: c.200C>G: p.T67S). CONCLUSION:The onset of ONFH in SLE might be associated with the identified SNVs in NOS3, COL2A1, and CR2.
journal_name
World J Clin Casesjournal_title
World journal of clinical casesauthors
Sun HS,Yang QR,Bai YY,Hu NW,Liu DX,Qin CYdoi
10.12998/wjcc.v8.i12.2530subject
Has Abstractpub_date
2020-06-26 00:00:00pages
2530-2541issue
12issn
2307-8960journal_volume
8pub_type
杂志文章abstract:BACKGROUND:Congenital bronchobiliary fistula is a rare developmental abnormality with an abnormal fistula between the respiratory system and biliary tract. The aim of this report is to analyze and summarize the clinical features and experience of diagnosing and treating congenital bronchobiliary fistula (CBBF) occurrin...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i7.881
更新日期:2019-04-06 00:00:00
abstract:INTRODUCTION:World Health Organization announced on April 2009 a public health emergency of international concern caused by swine-origin influenza A (H1N1) virus. Acute respiratory distress syndrome (ARDS) has been reported to be the most devastating complications of this pathogen. Extracorporeal membrane oxygenator (E...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v2.i10.578
更新日期:2014-10-16 00:00:00
abstract:BACKGROUND:Primary malignant melanoma of the lung (PMML) is a rare and highly malignant tumor with a poor prognosis. Here, we report a PMML case diagnosed by computed tomography (CT)-guided percutaneous biopsy, describe its pathological features and review relevant literature to improve our understanding of this tumor....
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i24.6373
更新日期:2020-12-26 00:00:00
abstract::Probiotics are known as "live microorganisms" and have been proven to have a health effect on hosts at the proper dose. Recently, a kind of probiotic mixture including eight live bacterial strains, VSL#3, has attracted considerable attention for its combined effect. VSL#3 is the only probiotic considered as a kind of ...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v8.i8.1361
更新日期:2020-04-26 00:00:00
abstract::Fine-needle aspiration (FNA) cytology is an important diagnostic tool in patients with thyroid lesions. Several systems have been proposed for the cyropathologic diagnosis of the thyroid nodules. However cases with indeterminate cytological findings still remain a matter of debate. In this review we analyze all litera...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v4.i2.38
更新日期:2016-02-16 00:00:00
abstract::Autoimmune encephalitis is a poorly understood condition that can present with a combination of neurological and psychiatric symptoms, either of which may predominate. There are many autoantibodies associated with a variety of clinical syndromes - anti-N-Methyl-D-Aspartate receptor (NMDAR) is the commonest. Currently,...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v4.i8.223
更新日期:2016-08-16 00:00:00
abstract:BACKGROUND:Primary chondrosarcoma of the liver are extremely rare. Moreover, there are few reports focusing on typical clinical symptoms and imaging characteristics. Therefore, the diagnosis of chondrosarcoma of the liver remains a challenge. CASE SUMMARY:A 59-year-old male was admitted due to a lesion occupying the r...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i20.5042
更新日期:2020-10-26 00:00:00
abstract::Gallbladder perforation (GBP) is a rare but serious complication of cholecystitis and needs to be managed promptly. Acalculus cholecystitis leading to GBP is frequently associated with enteric fever and found in critically ill patients, and a surgical approach is not always feasible in such patients. Use of percutaneo...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v3.i7.671
更新日期:2015-07-16 00:00:00
abstract:BACKGROUND:We analyzed the main features of an infant diagnosed with temporary neonatal cyanosis in order to strengthen our understanding of the disease. CASE SUMMARY:We report a patient diagnosed with temporary neonatal cyanosis. The main clinical characteristics, gene mutation and treatment are discussed and a revie...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i1.217
更新日期:2020-01-06 00:00:00
abstract::In colorectal cancer (CRC), liver metastasis remains a major contributor to the cause of cancer-related death. Putative biomarkers, therapeutic efficacy, and drug insensitivity still pose clinical challenges for metastatic CRC patients. Interestingly, previous studies indicated that tumor cells in CRC did not metastas...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v8.i11.2111
更新日期:2020-06-06 00:00:00
abstract:BACKGROUND:Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice. Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic disease of the newborn (HDN). Unfortunately, regional status of Rh-HDN is unavailable. We hypothesize tha...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v7.i20.3202
更新日期:2019-10-26 00:00:00
abstract::Surgical resection of mandible owing to benign, malignant neoplasm, osteoradionecrosis is common. The resection can be total or segmental depending on the lesion. Loss of mandibular continuity causes deviation of remaining mandibular segment towards the resected side and rotation inferiorly due to muscle pull and scar...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v5.i10.384
更新日期:2017-10-16 00:00:00
abstract:BACKGROUND:Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor that exhibits an epithelioid and spindle cell morphology. The tumor is characterized by immunoreactivity for melanocytic and myogenic markers but can be misdiagnosed as more common tumors with similar characteristics, including gastroin...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i18.4207
更新日期:2020-09-26 00:00:00
abstract:BACKGROUND:Gemcitabine is a chemotherapy agent with relatively low toxicities, as a valid option for elderly patients with underlying diseases. Gemcitabine-induced pulmonary toxicities are rare and various, ranging from self-limited episodes of bronchospasm to fatal, progressive, severe, interstitial pneumonitis and re...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i19.4652
更新日期:2020-10-06 00:00:00
abstract::Isolated neurofibromas that affect the gastrointestinal tract are rare and almost always manifest as neurofibromatosis type 1 or multiple endocrine neoplasia type 2b. In this paper, we present a case of a 24-year-old female with abdominal pain who discharged a neurofibroma in her stool without any blood on it. A colon...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v6.i11.455
更新日期:2018-10-06 00:00:00
abstract::Chronic thromboembolic pulmonary hypertension (CTEPH) is a complex chronic disease in which pulmonary artery stenosis or obstruction caused by organized thrombus can lead to increased pulmonary artery pressure and pulmonary vascular resistance, ultimately triggering progressive right heart failure and death. Currently...
journal_title:World journal of clinical cases
pub_type: 杂志文章,评审
doi:10.12998/wjcc.v8.i13.2679
更新日期:2020-07-06 00:00:00
abstract:BACKGROUND:The outbreak of coronavirus disease 2019 (COVID-19) has rapidly evolved into a global pandemic. COVID-19 is clinically categorized into mild, moderate, severe, and critical illness. Acute kidney injury is an independent risk factor for poor prognosis in patients with. Serum cystatin C (sCys C) is considered ...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v8.i20.4726
更新日期:2020-10-26 00:00:00
abstract::Although Kaposi sarcoma (KS) has been more traditionally considered an AIDS-defining illness, it may also be seen in individuals on immunosuppresive therapy. We report a case of a patient who presented to the hospital in the setting of increasingly refractory ulcerative colitis. Computed tomography scan of the abdomen...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v5.i12.423
更新日期:2017-12-16 00:00:00
abstract:BACKGROUND:Giant paraesophageal hiatal hernias (HH) are very infrequent, and their spectrum of clinical manifestations is large. Giant HH mainly occurs in elderly patients, and its relationship with anemia has been reported. For the surgical treatment of large HH, Nissen fundoplication is the most common antireflux pro...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i6.1180
更新日期:2020-03-26 00:00:00
abstract:BACKGROUND:High-riding nipple is one of the common complications after mastopexty and breast reconstruction. However, to date, a limited number of techniques have concentrated on how to lower the high-riding nipple with enlarged areola. CASE SUMMARY:This is a case report describing a combination of surgical techniques...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i9.1674
更新日期:2020-05-06 00:00:00
abstract:BACKGROUND:Bouveret syndrome is a rare complication of cholelithiasis, with only 315 cases reported in the literature between 1967 and 2016. Delay in diagnosis is associated with a high mortality rate. Diagnosis is based upon clinical manifestations, gastroscopy, and imaging studies such as abdominal computed tomograph...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i23.4144
更新日期:2019-12-06 00:00:00
abstract:BACKGROUND:Endoscopic ultrasonography-guided fine-needle aspiration (EUS-FNA) and endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) are highly sensitive for diagnosing and staging lung cancer. In recent years, targeted therapy has shown great significance in the treatment of non-small cell lu...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v8.i21.5139
更新日期:2020-11-06 00:00:00
abstract:BACKGROUND:Lymphoepithelioma-like carcinoma (LELC) is a non-keratinizing carcinoma with rich lymphocytic infiltration, which primarily originates from the nasopharynx. Primary lung LELC is a type of lung cancer with a relatively low incidence. Herein, we report a rare case of lung LELC with expression of CD56. We also ...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i7.1257
更新日期:2020-04-06 00:00:00
abstract:AIM:To determine the therapeutic effect of photodynamic therapy (PDT) for middle-advanced stage upper gastrointestinal carcinomas. METHODS:We searched PubMed, EMBASE, the Cochrane Library, China National Knowledge Infrastructure, China Science and Technology Journal Database, and Wanfang Database from inception to Apr...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v6.i13.650
更新日期:2018-11-06 00:00:00
abstract:BACKGROUND:Solitary respiratory papilloma is a rare epithelial tumor that can be categorized into multiple subtypes depending on tumor location, histological presentation and number. The glandular type is the rarest, with only 30 cases available within the field. Hence, information on its identification and treatment i...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i6.1104
更新日期:2020-03-26 00:00:00
abstract:BACKGROUND:Unilateral exophthalmos is often caused by inflammation, neoplasm, infection, metabolic disease, vascular disorder and several other less common conditions. Reflex sympathetic dystrophy related to unilateral exophthalmos has not been reported in the past literature. CASE SUMMARY:We describe a 45-year-old fe...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v8.i2.318
更新日期:2020-01-26 00:00:00
abstract:BACKGROUND:Aplasia cutis congenita (ACC) in newborns is a condition in which congenital defects or hypoplasia is present in part of the epidermis, dermis and even subcutaneous tissue (including muscle and bones). First reported by Cordon in 1767, ACC is a rare disease with a low incidence of 1/100000 to 3/10000. Curren...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i17.2611
更新日期:2019-09-06 00:00:00
abstract:BACKGROUND:Pancreaticoduodenectomy (PD) is a complex surgical procedure with a high morbidity rate. The serious complications are major risk factors for poor long-term surgical outcome. Studies have reported an association between early postoperative prognostic nutritional index (PNI) and prediction of severe complicat...
journal_title:World journal of clinical cases
pub_type: 杂志文章
doi:10.12998/wjcc.v7.i1.28
更新日期:2019-01-06 00:00:00
abstract::Coumadin ridge is a normal anatomic variant that is occasionally found in the left atrium. It can present as a linear or nodular mass which can undulate with cardiac motion and if particularly prominent, can easily be mistaken for a tumor or thrombus. Careful evaluation and consideration of the common variants discuss...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v3.i9.831
更新日期:2015-09-16 00:00:00
abstract:BACKGROUND:Ganglioneuroma (GN) is a rare and benign tumor that originates from autonomic nervous system ganglion cells. The most frequently involved sites are the posterior mediastinum, the abdominal cavity, and the retroperitoneal space. It rarely occurs in the cervical area, compressing the spinal cord. Neurofibromat...
journal_title:World journal of clinical cases
pub_type:
doi:10.12998/wjcc.v7.i1.109
更新日期:2019-01-06 00:00:00