Alström syndrome with a novel mutation of ALMS1 and Graves' hyperthyroidism: A case report and review of the literature

paythelady.612 shared this article with you from Inoreader Alström syndrome with a novel mutation of <em>ALMS1</em> and Graves' hyperthyroidism: A case report and review of the literature Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 May 6;9(13):3200-3211. doi: 10.12998/wjcc.v9.i13.3200. ABSTRACT BACKGROUND: Alström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the association between AS and Graves' hyperthyroidism. CASE SUMMARY: An 8-year-old Chinese girl was diagnosed with AS. Two years later, Graves' hyperthyroidism developed with progressive liver dysfunction. The patient's clinical data were collected; DNA from peripheral blood of the proband, parents and sibling was collected for gene mutation detection using the second-generation sequencing method and gene panel for diabetes. The association between the patient's genotype and clinical phenotype was analyzed. She carried the pathogenic compound heterozygous muta tion of ALMS1 (c.2296_2299del4 and c.11460C>A). These stop-gain mutations likely caused truncation of the ALMS1 protein. CONCLUSION: The manifestation of hyperthyroidism may suggest rapid progression of AS. PMID:33969109 | PMC:PMC8080750 | DOI:10.12998/wjcc.v9.i13.3200 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Detection of EGFR-SEPT14 fusion in cell-free DNA of a patient with advanced gastric cancer: A case report

paythelady.612 shared this article with you from Inoreader Detection of <em>EGFR-SEPT14</em> fusion in cell-free DNA of a patient with advanced gastric cancer: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Apr 26;9(12):2884-2889. doi: 10.12998/wjcc.v9.i12.2884. ABSTRACT BACKGROUND: Gastric cancer is the fifth most diagnosed cancer worldwide and the third most common cause of cancer-related death. In recent decades, increasing application of next-generation sequencing has enabled detection of molecular aberrations, including fusions. In cases where tissue is difficult to obtain, cell-free DNA (cfDNA) is used for detecting mutations to identify the molecular profile of cancer. Here, we report a rare case of EGFR-SEPT14 fusion detected from cfDNA analysis in a patient with gastric cancer. CASE SUMMARY: A 49-year-old female diagnosed with advanced gastric cancer in July 2019 received capecitabine and then combination chemotherapy of ramucirumab and paclitaxel, but ascites was detected. The therapy was switched to nivolumab, but disease progression was observed on a positron emission tomography/computed t omography scan in May 2020. Therapy was discontinued, and cfDNA next-generation sequencing was immediately evaluated. All genomic variants, including fusions, were analyzed from cfDNA. The following somatic alterations were detected from the patient's cfDNA: an APC frameshift mutation (NM_000038.5:c.6579del, p.V2194fs) with variant allele frequency of 0.5%, an EGFR amplification with a copy number of 17.3, and an EGFR-SEPT14 fusion with variant allele frequency of 45.3%. The site of the fusion was exon 24 of EGFR fused to exon 10 of SEPT14. The fusion was in-frame and considered to be protooncogenic. Although the patient refused to continue therapy, we suggest that EGFR-targeted therapies be tried in such future cases. CONCLUSION: The expanded applications of the cfDNA assay may open a new horizon in treatment of patients with advanced gastric cancer. PMID:33969073 | PMC:PMC8058666 | DOI:10.12998/wjcc.v9.i12.2884 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Laparoscopic uncontained power morcellation-induced dissemination of ovarian endodermal sinus tumors: A case report

paythelady.612 shared this article with you from Inoreader Laparoscopic uncontained power morcellation-induced dissemination of ovarian endodermal sinus tumors: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 May 6;9(13):3212-3218. doi: 10.12998/wjcc.v9.i13.3212. ABSTRACT BACKGROUND: Endodermal sinus tumors (ESTs), which arise primarily in children and adolescents, account for 20% of malignant ovarian germ cell tumors, but constitute only 1% of all ovarian malignancies. Treatment of ESTs consists of surgical staging with fertility-sparing surgery and chemotherapy. CASE SUMMARY: A 15-year-old nulliparous patient was diagnosed with disseminated ovarian ESTs after laparoscopic unilateral salpingo-oophorectomy using uncontained power morcellation for treatment of a ruptured solid adnexal mass in another hospital. Exploratory laparotomy; total abdominal hysterectomy, right salpingo-oophorectomy, and lymphadenectomy were performed with optimal debulking, and surgical stage 3C was assigned to the patient. CONCLUSION: In 2014, the Food and Drug Administration noted that power morcellation was probably associated with a risk of disseminating suspected cancerous tissue. Furthermore, the use of power morcellation to remove solid adnexal mass is considered a contraindication because of the potential for a malignant tumor. This case report aims to warn of the dangers of using uncontained power morcellation to treat solid adnexal masses. PMID:33969110 | PMC:PMC8080755 | DOI:10.12998/wjcc.v9.i13.3212 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Laryngeal myxoma: A case report

paythelady.612 shared this article with you from Inoreader Laryngeal myxoma: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Apr 26;9(12):2823-2829. doi: 10.12998/wjcc.v9.i12.2823. ABSTRACT BACKGROUND: Myxomas are benign tumors of mesenchymal origin that rarely occur in the larynx. CASE SUMMARY: We report a case of a laryngeal myxoma that presented as a right vocal cord mass in a 54-year-old man. CONCLUSION: Laryngeal myxoma is a rare benign tumor in the larynx. It is difficult to distinguish glottis myxoma from vocal cord polyps on laryngoscopy. We recommend that otolaryngologists acquire a better understanding of this disease. If a laryngeal myxoma is suspected, dynamic laryngoscopy, acoustic voice analysis, and pathological biopsy should be performed. PMID:33969065 | PMC:PMC8058668 | DOI:10.12998/wjcc.v9.i12.2823 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Separated root tip formation associated with a fractured tubercle of dens evaginatus: A case report

paythelady.612 shared this article with you from Inoreader Separated root tip formation associated with a fractured tubercle of dens evaginatus: A case report Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 Apr 26;9(12):2944-2950. doi: 10.12998/wjcc.v9.i12.2944. ABSTRACT BACKGROUND: Several previous studies have reported an unusual root formation in which a fractured apical fragment of an immature root continued to develop independent of the main root after trauma to an immature tooth. To date, there have been only rare reports of the continuing apical formation of the fractured root associated with dens evaginatus (DE). This paper presents a case of a separated root tip formation associated with a fractured tubercle of DE. CASE SUMMARY: An 11-year-old boy was referred for gingival sinus on the buccal side of the right mandibular second premolar (tooth # 45). Clinically, tooth # 45 was free of caries, but there was a sign of a fractured tubercle of DE on the occlusal surface. Radiography showed that the root canal of tooth # 45 was widely radiolucent. A separated root apex was found apically under the main r oot and was nearly completely formed with an apical orifice at the apical tip. Tooth # 45 was diagnosed as tubular fracture of DE with chronic apical periodontitis. A revascularization technique was recommended to treat the tooth. At 3-mo and 1-yr follow-up, the patient remained asymptomatic. Periapical radiography revealed that the separated root tip distally drifted with closure of the apex. However, the root length and thickness of the main root did not increased. CONCLUSION: Clinicians should be aware that even if tubercle of DE is fractured in an immature tooth, the root tip may be separated from the main root and completely formed. PMID:33969081 | PMC:PMC8058674 | DOI:10.12998/wjcc.v9.i12.2944 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Novel Concept, Design and Feasibility Test of Hybrid Temporal Bone and Sheep Head Holder

xlomafota13 shared this article with you from Inoreader Novel Concept, Design and Feasibility Test of Hybrid Temporal Bone and Sheep Head Holder Via Otolaryngology Indian Abstract We present a first feasibility and usability assessment of a novel commercial hybrid temporal and sheep head holder. Feasibility tests were conducted on human cadaveric and sheep temporal bone based on common otologic procedures. Overall practicality of using this device for cadaveric temporal bone dissections was evaluated. Beneficial aspects included ease of usage, handling, fixing and stability, inbuilt irrigation system, compartments for instrument placement, ergonomics and overall satisfaction. The novel hybrid Temporal and sheep bone holder bears the potential to provide benefits for cadaveric and sheep bone dissections. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Endoscopic Transnasal Management of Giant Paediatric Sinonasal Ossifying Fibroma

xlomafota13 shared this article with you from Inoreader Endoscopic Transnasal Management of Giant Paediatric Sinonasal Ossifying Fibroma Via Otolaryngology Indian Abstract The ossifying fibroma is a rare fibro-osseous benign lesion of bone in the head and neck region. The mandible is the most common site reported followed by maxilla and other bones of the skull. A paediatric male presented with protrusion of the right eyeball for one-month duration. Further evaluation by diagnostic nasal endoscopy revealed a smooth mass confined to the superior and middle meatus on the right side. Computed tomography of paranasal sinus showed a large heterogenous bony lesion involving the ethmoid and sphenoid sinus and extending laterally into the orbit and superiorly into anterior skull base. Endoscopic biopsy was suggestive of ossifying fibroma. Transnasal endoscopic excision of the lesion was done and the patient is currently on follow-up. This case is reported for the rarity of presentation and the difficulties in management. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.