Κυριακή 25 Απριλίου 2021

Melatonin for an obese child with MC4R gene variant showing epilepsy and disordered sleep: A case report

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World J Clin Cases. 2021 Apr 16;9(11):2688-2695. doi: 10.12998/wjcc.v9.i11.2688.

ABSTRACT

BACKGROUND: Abnormalities in the melanocortin receptor 4 (MC4R) gene often lead to obesity, but are rarely associated with other conditions such as epilepsy and sleep disorder.

CASE SUMMARY: Here, we present a case of a male obese child with a heterozygous variant in MC4R (c.494G>A, p.Arg165Gln) inherited from his father, who presented with disordered sleep and abnormal facial movements. Examination through melatonin rhythm testing and electroencephalography led to a diagnosis of sleep disorder and epilepsy, as his melatonin rhythm was markedly distorted and the electroencephalography revealed epileptic discharges. He received treatment with an antiepileptic drug; however, the therapy was ineffective and the sleep disorder appeared to be deteriorating. Subsequently, we initiated adjuvant treatment with melatonin. Upon re-examination, his body mass index had decreased, the sleep disturbance had resolved, and his seizures were well controlled. Electro-encephalography review was normal, and a typical melatonin rhythm was restored.

CONCLUSION: We concluded that, in addition to causing obesity, abnormalities in the MC4R gene may contribute to the development of sleep disorders and epilepsy, and that melatonin can be used as an adjuvant therapy to alleviate these symptoms.

PMID:33889637 | PMC:PMC8040176 | DOI:10.12998/wjcc.v9.i11.2688

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Minimally invasive treatment of forearm double fracture in adult using Acumed forearm intramedullary nail: A case report

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World J Clin Cases. 2021 Apr 16;9(11):2595-2601. doi: 10.12998/wjcc.v9.i11.2595.

ABSTRACT

BACKGROUND: Currently, open reduction internal fixation is the conventional surgical method for treatment of double ulna and radius fracture. However, open reduction is associated with a high risk of complications. This case of forearm double fracture involved a patient treated using an Acumed intramedullary nail. The patient experienced good follow-up outcomes. The Acumed forearm intramedullary nail enables early functional exercise and hastens healing of the fracture. Few studies have reported on the use of this approach for the treatment of fractures.

CASE SUMMARY: A 23-year-old male patient was admitted to hospital after 5 h of pain, swelling, and limited activity of left forearm caused by a careless fall. Physical examination showed stable basic vital signs, swelling of the left forearm, and severe pain when pressing on the injured part of the forearm. Further, friction was felt at the broken end of the bone; the skin was not punctured. Movement of the left hand was normal, and the left radial artery pulse was normal. Three-dimensional computed tomography examination showed an ulna fracture of the left forearm and comminuted fracture of the radius. The fracture was located in the upper third of the radius, with significant displacement on the fracture side. Clinical diagnosis further confirmed the left radius comminuted fracture and ulna fracture. After analyzing the fracture pattern, age, and other patient characteristics, we chose an Acumed nail for treatment and achieved good follow-up outcomes.

CONCLUSION: Acumed forearm intramedullary nail for fixation of ulna and radius fracture reduced complication risk and resulted in good follow-up outcomes.

PMID:33889625 | PMC:PMC8040186 | DOI:10.12998/wjcc.v9.i11.2595

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Prognostic nomograms for predicting overall survival and cause-specific survival of signet ring cell carcinoma in colorectal cancer patients

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World J Clin Cases. 2021 Apr 16;9(11):2503-2518. doi: 10.12998/wjcc.v9.i11.2503.

ABSTRACT

BACKGROUND: Signet ring cell carcinoma (SRCC) is an uncommon subtype in colorectal cancer (CRC), with a short survival time. Therefore, it is imperative to establish a useful prognostic model. As a simple visual predictive tool, nomograms combining a quantification of all proven prognostic factors have been widely used for predicting the outcomes of patients with different cancers in recent years. Until now, there has been no nomogram to predict the outcome of CRC patients with SRCC.

AIM: To build effective nomograms for predicting overall survival (OS) and cause-specific survival (CSS) of CRC patients with SRCC.

METHODS: Data were extracted from the Surveillance, Epidemiology, and End Results database between 2004 and 2015. Multivariate Cox regression analyses were used to identify independent variables for both OS and CSS to construc t the nomograms. Performance of the nomograms was assessed by concordance index, calibration curves, and receiver operating characteristic (ROC) curves. ROC curves were also utilized to compare benefits between the nomograms and the tumor-node-metastasis (TNM) staging system. Patients were classified as high-risk, moderate-risk, and low-risk groups using the novel nomograms. Kaplan-Meier curves were plotted to compare survival differences.

RESULTS: In total, 1230 patients were included. The concordance index of the nomograms for OS and CSS were 0.737 (95% confidence interval: 0.728-0.747) and 0.758 (95% confidence interval: 0.738-0.778), respectively. The calibration curves and ROC curves demonstrated good predictive accuracy. The 1-, 3-, and 5-year area under the curve values of the nomogram for predicting OS were 0.796, 0.825 and 0.819, in comparison to 0.743, 0.798, and 0.803 for the TNM staging system. In addition, the 1-, 3-, and 5-year area under the curve values of the nomogram for predicting CSS were 0.805, 0.847 and 0.863, in comparison to 0.740, 0.794, and 0.800 for the TNM staging system. Based on the novel nomograms, stratified analysis showed that the 5-year probability of survival in the high-risk, moderate-risk, and low-risk groups was 6.8%, 37.7%, and 67.0% for OS (P < 0.001), as well as 9.6%, 38.5%, and 67.6% for CSS (P < 0.001), respectively.

CONCLUSION: Convenient and visual nomograms were built and validated to accurately predict the OS and CSS rates for CRC patients with SRCC, which are superior to the conventional TNM staging system.

PMID:33889615 | PMC:PMC8040180 | DOI:10.12998/wjcc.v9.i11.2503

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Klebsiella pneumoniae infection secondary to spontaneous renal rupture that presents only as fever: A case report

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World J Clin Cases. 2021 Apr 16;9(11):2602-2610. doi: 10.12998/wjcc.v9.i11.2602.

ABSTRACT

BACKGROUND: Spontaneous renal rupture is a rare disease in the clinic. The causes of spontaneous renal rupture include extrarenal factors, intrarenal factors, and idiopathic factors. Reports on infection secondary to spontaneous renal rupture and the complications of spontaneous renal rupture are scarce. Furthermore, there are few patients with spontaneous renal rupture who present only with fever.

CASE SUMMARY: We present the case of a 52-year-old female patient who was admitted to our hospital. She presented only with fever, and the cause of the disease was unclear. She underwent a contrast-enhanced computed tomography (CT) scan, which showed that the left renal capsule had a crescent-shaped, low-density shadow; the perirenal fat was blurred, and exudation was visible with no sign of calculi, malignancies, instrumentation, or trauma. Under ultrasound guidance, a pigtail catheter was inserted into the hematoma, and fluid was drained and used for the bacterial test, which proved the presence of Klebsiella pneumoniae. Two months later, abdominal CT showed that the hematoma was absorbed, so the drainage tube was removed. The abdominal CT was normal after 4 mo.

CONCLUSION: Spontaneous renal rupture due to intrarenal factors causes a higher proportion of shock and is more likely to cause anemia.

PMID:33889626 | PMC:PMC8040190 | DOI:10.12998/wjcc.v9.i11.2602

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Three-dimensional-printed custom-made patellar endoprosthesis for recurrent giant cell tumor of the patella: A case report and review of the literature

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World J Clin Cases. 2021 Apr 16;9(11):2524-2532. doi: 10.12998/wjcc.v9.i11.2524.

ABSTRACT

BACKGROUND: Giant cell tumor (GCT) is a benign lesion and rarely involves the patella. This disease is characterized by a relatively high recurrence rate after primary treatment. En bloc resection has been a predominant option for recurrent GCT. However, total patellectomy can lead to disruption of the knee. Therefore, exploration of functional reconstruction of the extensor mechanism is worthwhile.

CASE SUMMARY: A 54-year-old woman presented with right knee pain and swelling, and was diagnosed as having a GCT in the patella following curettage and autograft. Medical imaging revealed a lytic and expanded lesion involving the whole patella with focal cortical breaches and pathological fracture. Based on the combination of histological, radiological, and clinical features, a diagnosis of recurrent GCT in the patella was made (Campanacci grade III). After a multidisciplinary team discussion, three-dimensional (3D)-printed custom-made patellar endoprosthesis was performed following en bloc resection for reconstructing the extensor mechanism. The patient was followed for 35 mo postoperatively. No evidence of local recurrence, pulmonary metastasis, or osteoarthritis of the right knee was observed. The active flexion arc was 0°-120°, and no extension lag was detected. A favorable patellar tracking and height (Insall-Salvati ratio 0.93) were detected by radiography.

CONCLUSION: We depict a case of a GCT at the right patella, which was successfully treated by patellectomy and 3D-printed custom-made endoprosthetic replacement. The patella normal reconstruction, the precise-fit articular design, and gastrocnemius flap augmentation could lead to satisfactory knee function and a low rate of complications in the short-term follow-up.

PMID:33889617 | PMC:PMC8040175 | DOI:10.12998/wjcc.v9.i11.2524

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Eltrombopag-related renal vein thromboembolism in a patient with immune thrombocytopenia: A case report

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World J Clin Cases. 2021 Apr 16;9(11):2611-2618. doi: 10.12998/wjcc.v9.i11.2611.

ABSTRACT

BACKGROUND: Eltrombopag is an orally administered thrombopoietin receptor agonist linked to a heightened risk of treatment-related thromboembolism. Both venous and arterial thromboses have been documented in the medical literature.

CASE SUMMARY: In the absence of nephropathy, a 48-year-old patient receiving eltrombopag for immune thrombocytopenia (ITP) developed renal vein thrombosis and pulmonary embolism. The renal vein thrombus spontaneously resolved during subsequent anticoagulant treatment, restoring venous circulation.

CONCLUSION: A rapid upsurge in platelets, rather than their absolute number, may trigger thrombotic events in this setting. For patients at high thrombotic risk, individualized eltrombopag dosing and vigilance in platelet monitoring are perhaps needed during treatment of ITP.

PMID:33889627 | PMC:PMC8040189 | DOI:10.12998/wjcc.v9.i11.2611

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Neoadjuvant chemoradiotherapy followed by laparoscopic distal gastrectomy in advanced gastric cancer: A case report and review of literature

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World J Clin Cases. 2021 Apr 16;9(11):2542-2554. doi: 10.12998/wjcc.v9.i11.2542.

ABSTRACT

BACKGROUND: The laparoscopic technique has been widely applied for early gastric cancer, with the advantages of minimal invasion and quick recovery. However, there is no report about the safety and oncological outcome of laparoscopic gastrectomy with D2 lymph node dissection for patients after neoadjuvant chemoradiotherapy.

CASE SUMMARY: A 60-year-old man was diagnosed with advanced distal gastric cancer, cT4aN1M0 stage III. The neoadjuvant chemoradiotherapy was performed based on the regimen of gross tumor volume 50G y/25 f and clinical target volume 45 Gy/25 f, as well as concurrent S-1 60 mg Bid. Then laparoscopic distal gastrectomy with D2 lymph node dissection was undertaken successfully for him after achieving partial response evaluated by radiological examination. The patient recovered smoothly without moderate or severe postoperative complications. The postoperative pathological stage was ypT3N0M0 with American Joint Committee on Cancer tumor regression grade 1. He was still in good condition after 5 years of follow-up.

CONCLUSION: Neoadjuvant chemoradiotherapy followed by laparoscopic technique could be applicable and may achieve satisfactory oncological outcomes. Our finding requires further validation by cohort studies.

PMID:33889619 | PMC:PMC8040168 | DOI:10.12998/wjcc.v9.i11.2542

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Cryptococcus infection with asymptomatic diffuse pulmonary disease in an immunocompetent patient: A case report

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World J Clin Cases. 2021 Apr 16;9(11):2619-2626. doi: 10.12998/wjcc.v9.i11.2619.

ABSTRACT

BACKGROUND: Cryptococcus presenting as an opportunistic pathogen mainly affects immunocompromised patients, but the disseminated form of infection is rare among immunocompetent populations. The partial radiographic characteristics of pulmonary cryptococcosis mimic lung carcinoma, leading to unnecessary open chest exploratory surgery, and the lack of a gold-standard noninvasive diagnostic increases the risk of misdiagnosis. Positron emission tomography/computed tomography (PET/CT), a sensitive method for distinguishing malignant tumors, coupled with cryptococcal latex agglutination test showing a high positive rate may overcome these issues.

CASE: A 36-year-old man presented for general examination, without health complaints. Routine CT showed multiple pulmonary nodules and a mass with high maximum standardized uptake value. Initially, we suspected primary malignancy with hematogenous metastasis. Although his routine fungal analysis had been negative, subsequent CT-guided percutaneous core needle biopsy and histopathology examination indicated a diagnosis of pulmonary cryptococcosis. Fluconazole (200 mg/d) antifungal drug treatment was initiated, and 1 mo later the pulmonary mass had reduced in size markedly (on chest CT scan) without any complications.

CONCLUSION: Serologic and PET/CT examinations may not rule out cryptococcosis, and percutaneous lung puncture is critical under all circumstances.

PMID:33889628 | PMC:PMC8040166 | DOI:10.12998/wjcc.v9.i11.2619

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Endoscopic diagnosis of early-stage primary esophageal small cell carcinoma: Report of two cases

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World J Clin Cases. 2021 Apr 16;9(11):2562-2568. doi: 10.12998/wjcc.v9.i11.2562.

ABSTRACT

BACKGROUND: Primary esophageal small cell carcinoma (PESCC) is a highly aggressive malignancy, and its detailed clinical behaviors have remained virtually unknown. Because of the rapid tumor progression, the diagnosis of esophageal small cell carcinoma at early stage is extremely difficult in clinical practice. Currently, only a handful of PESCC cases have been reported.

CASE SUMMARY: Case 1: A 62-year-old man was diagnosed with an esophageal submucosal tumor by endoscopy. Endoscopic ultrasonography showed a 0.8 cm low echo nodule in the muscularis mucosa. As the patient refused to undergo endoscopic resection, neoplasia was detected by endoscopy 1 year later. Case 2: A 68-year-old woman was diagnosed as having an esophageal submucosal tumor by endoscopy at a local hospital. About 2 wk later, we performed endoscopic ultrasonography and found a 1 cm low echo nodule in the muscularis mucosa; the submucosal was thinner than normal but still continuous; mucosal hyperemia and erosion were found on the surface of the tumor. Endoscopic submucosal dissection (ESD) was performed and the histopathological finding showed a small cell carcinoma invading the submucosal layer.

CONCLUSION: Early esophageal small cell carcinoma shows submucosal infiltrating growth with a hypoechoic mass in the muscularis mucosa as diagnosed by endoscopic ultrasonography. It is easily misdiagnosed as submucosal masses. Endoscopic manifestations should be identified and pathological biopsies should be employed. ESD may be performed to provide an opportunity for early treatment of PESCC.

PMID:33889621 | PMC:PMC8040171 | DOI:10.12998/wjcc.v9.i11.2562

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Triple administration of osimertinib followed by chemotherapy for advanced lung adenocarcinoma: A case report

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World J Clin Cases. 2021 Apr 16;9(11):2627-2633. doi: 10.12998/wjcc.v9.i11.2627.

ABSTRACT

BACKGROUND: Osimertinib is the recommended first-line treatment for adult patients with epidermal growth factor receptor (EGFR) mutation positive advanced or metastatic non-small cell lung cancer (NSCLC). However, primary or acquired resistance to EGFR-tyrosine kinase inhibitors (EGFR-TKIs) seems inevitable, and when drug-resistance occurs during treatment with osimertinib, the standard of care is to discontinue the TKI.

CASE SUMMARY: A 57-year-old female patient with lung adenocarcinoma presented with an irritating cough accompanied by chest distress of one month duration. An enhanced head magnetic resonance imaging scan showed brain metastases. An EGFR mutation (exon 21 L858R) was detected in pleural fluid. The patient was treated with oral osimertinib (80 mg once daily) from January 2018 but developed progressive disease on December 2018. She was then successfully treated with re-challenge and tri-challenge with osimertinib (80 mg once daily) by resensitization chemotherapy twice after the occurrence of drug-resistance to osimertinib, and to date has survived for 31 mo.

CONCLUSION: This case may provide some selective therapeutic options for NSCLC patients with acquired drug-resistance who were previously controlled on osimertinib treatment.

PMID:33889629 | PMC:PMC8040179 | DOI:10.12998/wjcc.v9.i11.2627

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