Κυριακή 16 Μαΐου 2021

Treatment of acute severe ulcerative colitis using accelerated infliximab regimen based on infliximab trough level: A case report

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World J Clin Cases. 2021 May 6;9(13):3219-3226. doi: 10.12998/wjcc.v9.i13.3219.

ABSTRACT

BACKGROUND: Acute severe ulcerative colitis (ASUC) is a complication of ulcerative colitis associated with high levels of circulating tumor necrosis factor alpha, due to the intense inflammation and faster stool clearance of anti-tumor necrosis factor drugs. Dose-intensified infliximab treatment can be beneficial and is associated with lower rates of colectomy. The aim of the study was to present a case of a patient with ASUC and megacolon, treated with hydrocortisone and accelerated scheme of infliximab that was monitored by drug trough level.

CASE SUMMARY: A 22-year-old female patient diagnosed with ulcerative colitis, presented with diarrhea, rectal bleeding, abdominal pain, vomiting, and distended abdomen. During investigation, a positive toxin for Clostridium difficile and colonic dilatation of 7 cm consistent with megacolon were observed. She was treated with oral vancomycin for pseudomembranous colitis and intravenous hydrocortisone for severe colitis, which led to the resolution of megacolon. Due to the persistent severe colitis symptoms, infliximab 5 mg/kg was prescribed, monitored by drug trough level (8.8 μg/mL) and fecal calprotectin of 921 μg/g (< 30 μg/g). Based on the low infliximab trough level after one week from the first infliximab dose, the patient received a second infusion at week 1, consistent with the accelerated regimen (infusions at weeks 0, 1, 2 and 6). We achieved a positive clinical and endoscopic response after 6 mo of therapy, without the need for a colectomy.

CONCLUSION: Infliximab accelerated infusions can be beneficial in ASUC unresponsive to the treatment with intravenous corticosteroids. Longitudinal studies are necessary to define the best therapeutic drug monitoring and treatment regimen for these patients.

PMID:33969111 | PMC:PMC8080733 | DOI:10.12998/wjcc.v9.i13.3219

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Renal artery embolization in the treatment of urinary fistula after renal duplication: A case report and review of literature

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World J Clin Cases. 2021 May 6;9(13):3177-3184. doi: 10.12998/wjcc.v9.i13.3177.

ABSTRACT

BACKGROUND: Duplicate renal malformation is a congenital disease of the urinary system, with an incidence rate of 0.8%. Surgical treatment is suitable for symptomatic patients. Urinary fistula is one of the complications of heminephrectomy. Long-term urinary fistula has a great impact on patients' lives.

CASE SUMMARY: This article mainly reports on a 47-year-old man with duplication of kidney deformity, long urinary fistula after partial nephrectomy, and no improvement after conservative treatment. We have achieved positive results in the arterial embolization treatment of the residual renal artery, indicating that selective arterial embolization is a good way to treat urinary fistula after partial nephrectomy. It is worth noting that this patient violated the Weigert-Meyer law, which also gave us more consideration.

CONCLUSION: Renal a rtery embolization may be a simple and safe method to treat urinary fistula inefficacy with conservative treatment.

PMID:33969106 | PMC:PMC8080745 | DOI:10.12998/wjcc.v9.i13.3177

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Behcet's disease manifesting as esophageal variceal bleeding: A case report

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World J Clin Cases. 2021 Apr 26;9(12):2854-2861. doi: 10.12998/wjcc.v9.i12.2854.

ABSTRACT

BACKGROUND: Behcet's disease (BD) is a chronic disease characterized by oral and vulvar ulcers as well as eye and skin damage and involves multiple systems. It presents as an alternating process of repeated attacks and remissions. Esophageal venous rupture and bleeding caused by BD is rarely reported at home and abroad. This paper reports a case of bleeding from oesophageal varices caused by BD, aiming to provide an additional dimension for considering the cause of bleeding from esophageal varices in the future.

CASE SUMMARY: A 38-year-old female patient was admitted due to a gradual increase in shortness of breath and chest tightness after the activity, and was admitted to our hospital for treatment. After admission, relevant examinations showed that the patient had multiple blood clots. Four days after admission, she suddenly experienced m assive hematemesis. Emergency esophagogastroduodenoscopy revealed bleeding from esophageal and gastric varices. The patient had no history of viral hepatitis or drinking habits, and no history of special genetic diseases or congenital vascular diseases. There is no obvious abnormality in liver function. After reviewing the medical history, it was found that the patient had recurred oral ulcers since childhood, ulcers were visible in the perineum during menstruation, and there was an intermittent red nodular rash and uveitis. The current skin acupuncture reaction is positive, combined with the evaluation of the external hospital and our hospital, the main diagnosis is BD. She received methylprednisolone, cyclophosphamide, immunomodulation, acid suppression, gastric protection, and anticoagulation and anti-infection treatments, and was discharged from the hospital. During the 1-year follow-up period, the patient did not vomit blood again.

CONCLUSION: This case highlights bleedin g from esophageal varices caused by BD, aiming to provide an additional dimension concerning the cause of bleeding from esophageal varices in the future.

PMID:33969069 | PMC:PMC8058672 | DOI:10.12998/wjcc.v9.i12.2854

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Clinical characteristics of intrahepatic biliary papilloma: A case report

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World J Clin Cases. 2021 May 6;9(13):3185-3193. doi: 10.12998/wjcc.v9.i13.3185.

ABSTRACT

BACKGROUND: Intrahepatic bile duct papilloma (IPNB) is a rare benign tumour from the bile duct epithelium and has a high malignant transformation rate. Early radical resection can obviously improve the prognosis of patients, but it is difficult to be sure of the diagnosis of IPNB before operating.

CASE SUMMARY: This study included 28 patients with intraductal papilloma admitted to the First Hospital of Jilin University from January 2010 to November 2020 and recorded their clinical manifestations, imaging features, complications and prognosis. There were 12 males and 16 females with an average age of 61.36 ± 8.03 years. Most patients had symptoms of biliary obstruction. Biliary dilatation and cystic mass could be seen on imaging. After surgery, IPNB was diagnosed by pathology.

CONCLUSION: IPNB is a rare benign tumour in the bile duct. E arly diagnosis and timely R0 resection can improve the prognosis of IPNB.

PMID:33969107 | PMC:PMC8080758 | DOI:10.12998/wjcc.v9.i13.3185

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Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report

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World J Clin Cases. 2021 Apr 26;9(12):2916-2922. doi: 10.12998/wjcc.v9.i12.2916.

ABSTRACT

BACKGROUND: The understanding regarding genetic variation, pathophysiology, and complications associated with pyruvate kinase deficiency (PKD) in red blood cells has been explained largely, and supportive treatment is currently the main management strategy. Etiotropic managements, including transplantation and genome editing, supplying for substitute dugs of the pyruvate kinase, are all under research.

CASE SUMMARY: We herein report a 3-year-old boy with severe transfusion-dependent PKD cured by unrelated identical peripheral blood stem cell transplantation (PBSCT). Hemoglobin was corrected to a normal level by gene correction after PBSCT, with no complication related to the transplantation.

CONCLUSION: Hematopoietic stem cell transplantation could be a substitute for transfusion-dependent PKD.

PMID:33969077 | PMC:PMC8058671 | DOI:10.12998/wjcc.v9.i12.2916

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Association between scrub typhus encephalitis and diffusion tensor tractography detection of Papez circuit injury: A case report

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World J Clin Cases. 2021 May 6;9(13):3194-3199. doi: 10.12998/wjcc.v9.i13.3194.

ABSTRACT

BACKGROUND: It is difficult to restore the cognitive functions of patients with impaired cognition caused by brain injury. Diffusion tensor imaging can visualize the integrity of neural tracts in the white matter (WM) three-dimensionally. It is unclear whether encephalitis following scrub typhus damages the WM. For the first time, we aimed to report diffusion tensor tractography (DTT) findings in a chronic patient with cognitive impairment following scrub typhus encephalitis, which revealed injury to the Papez circuit of the WM.

CASE SUMMARY: A 70-year-old male patient was affected by encephalitis caused by scrub typhus that occurred 23 years ago. He had poor cognition and his clinical examination findings were as follows: Mini-Mental Status Examination score, 14; and handgrip strength (right/left, kg), 32.3/31.3. DTT revealed serious injurie s of the left thalamocingulate tract and right mammillothalamic tract in the Papez circuit, and a partial injury of the anterior part of the fornix.

CONCLUSION: Using DTT, we found a relationship between cognitive impairment and the integrity of the Papez circuit following scrub typhus.

PMID:33969108 | PMC:PMC8080737 | DOI:10.12998/wjcc.v9.i13.3194

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Clinical diagnosis of severe COVID-19: A derivation and validation of a prediction rule

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World J Clin Cases. 2021 May 6;9(13):2994-3007. doi: 10.12998/wjcc.v9.i13.2994.

ABSTRACT

BACKGROUND: The widespread coronavirus disease 2019 (COVID-19) has led to high morbidity and mortality. Therefore, early risk identification of critically ill patients remains crucial.

AIM: To develop predictive rules at the time of admission to identify COVID-19 patients who might require intensive care unit (ICU) care.

METHODS: This retrospective study included a total of 361 patients with confirmed COVID-19 by reverse transcription-polymerase chain reaction between January 19, 2020, and March 14, 2020 in Shenzhen Third People's Hospital. Multivariate logistic regression was applied to develop the predictive model. The performance of the predictive model was externally validated and evaluated based on a dataset involving 126 patients from the Wuhan Asia General Hospital between December 2019 and March 2020, by area under the receiver operating curve (AUROC), goodness-of-fit and the performance matrix including the sensitivity, specificity, and precision. A nomogram was also used to visualize the model.

RESULTS: Among the patients in the derivation and validation datasets, 38 and 9 participants (10.5% and 2.54%, respectively) developed severe COVID-19, respectively. In univariate analysis, 21 parameters such as age, sex (male), smoker, body mass index (BMI), time from onset to admission (> 5 d), asthenia, dry cough, expectoration, shortness of breath, asthenia, and Rox index < 18 (pulse oxygen saturation, SpO2)/(FiO2 × respiratory rate, RR) showed positive correlations with severe COVID-19. In multivariate logistic regression analysis, only six parameters including BMI [odds ratio (OR) 3.939; 95% confidence interval (CI): 1.409-11.015; P = 0.009], time from onset to admission (≥ 5 d) (OR 7.107; 95%CI: 1.449-34.849; P = 0.016), fever (OR 6.794; 95%CI: 1.401-32.951 ; P = 0.017), Charlson index (OR 2.917; 95%CI: 1.279-6.654; P = 0.011), PaO2/FiO2 ratio (OR 17.570; 95%CI: 1.117-276.383; P = 0.041), and neutrophil/lymphocyte ratio (OR 3.574; 95%CI: 1.048-12.191; P = 0.042) were found to be independent predictors of COVID-19. These factors were found to be significant risk factors for severe patients confirmed with COVID-19. The AUROC was 0.941 (95%CI: 0.901-0.981) and 0.936 (95%CI: 0.886-0.987) in both datasets. The calibration properties were good.

CONCLUSION: The proposed predictive model had great potential in severity prediction of COVID-19 in the ICU. It assisted the ICU clinicians in making timely decisions for the target population.

PMID:33969085 | PMC:PMC8080753 | DOI:10.12998/wjcc.v9.i13.2994

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

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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

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

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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

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

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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

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Laryngeal myxoma: A case report

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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

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