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Background/Aims@#There are limitations in treating ampullary adenomas with intraductal extension using conventional endoscopic modalities. Endoscopic intraductal radiofrequency ablation (ID-RFA) may be useful for treating intraductal (common bile duct [CBD] and/or pancreatic duct [PD]) extensions of ampullary adenomas, but long-term data are lacking. We thus evaluated the long-term outcomes of endoscopic ID-RFA for managing ampullary adenomas with intraductal extension. @*Methods@#Prospectively collected endoscopic ID-RFA database at Asan Medical Center was reviewed to identify consecutive patients with ampullary adenoma who underwent ID-RFA for intraductal extension between January 2018 and August 2021. Technical success, short-term and long-term clinical success, and adverse events were evaluated. @*Results@#A total of 29 patients (14 CBD, 1 PD, and 14 CBD and PD) were analyzed. All patients had undergone endoscopic snare papillectomy prior to ID-RFA. A median of one session of IDRFA (range, 1 to 3) for residual or relapsed intraductal extension of ampullary adenoma were successfully performed (technical success=100%). Both biliary and pancreatic stenting were routinely performed after ID-RFA to prevent ductal stricture. After a median follow-up of 776 days (interquartile range, 470 to 984 days), the short-term and long-term clinical success rates were 93% and 76%, respectively. Seven patients experienced procedural adverse events and three patients developed ductal strictures. @*Conclusions@#Endoscopic ID-RFA showed good long-term outcomes in treating residual or relapsed ampullary adenomas with intraductal extension. Repeated ID-RFA may be considered as an option for managing recurrence. Further studies are needed to standardize the procedure.
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Purpose@#There are no reliable biomarkers to guide treatment for patients with borderline resectable pancreatic cancer (BRPC) in the neoadjuvant setting. We used plasma circulating tumor DNA (ctDNA) sequencing to search biomarkers for patients with BRPC receiving neoadjuvant mFOLFIRINOX in our phase 2 clinical trial (NCT02749136). @*Materials and Methods@#Among the 44 patients enrolled in the trial, patients with plasma ctDNA sequencing at baseline or post-operation were included in this analysis. Plasma cell-free DNA isolation and sequencing were performed using the Guardant 360 assay. Detection of genomic alterations, including DNA damage repair (DDR) genes, were examined for correlations with survival. @*Results@#Among the 44 patients, 28 patients had ctDNA sequencing data qualified for the analysis and were included in this study. Among the 25 patients with baseline plasma ctDNA data, 10 patients (40%) had alterations of DDR genes detected at baseline, inclu-ding ATM, BRCA1, BRCA2 and MLH1, and showed significantly better progression-free survival than those without such DDR gene alterations detected (median, 26.6 vs. 13.5 months; log-rank p=0.004). Patients with somatic KRAS mutations detected at baseline (n=6) had significantly worse overall survival (median, 8.5 months vs. not applicable; log-rank p=0.003) than those without. Among 13 patients with post-operative plasma ctDNA data, eight patients (61.5%) had detectable somatic alterations. @*Conclusion@#Detection of DDR gene mutations from plasma ctDNA at baseline was associated with better survival outcomes of pati-ents with borderline resectable pancreatic ductal adenocarcinoma treated with neoadjuvant mFOLFIRINOX and may be a prognostic biomarker.
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Purpose@#The benefit of adjuvant chemotherapy following curative-intent surgery in pancreatic ductal adenocarcinoma (PDAC) patients who had received neoadjuvant FOLFIRINOX is unclear. This study aimed to assess the survival benefit of adjuvant chemotherapy in this patient population. @*Materials and Methods@#This retrospective study included 218 patients with localized non-metastatic PDAC who received neoadjuvant FOLFIRINOX and underwent curative-intent surgery (R0 or R1) between January 2017 and December 2020. The association of adjuvant chemotherapy with disease-free survival (DFS) and overall survival (OS) was evaluated in overall patients and in the propensity score matched (PSM) cohort. Subgroup analysis was conducted according to the pathology-proven lymph node status. @*Results@#Adjuvant chemotherapy was administered to 149 patients (68.3%). In the overall cohort, the adjuvant chemotherapy group had significantly improved DFS and OS compared to the observation group (DFS: median, 13.8 months [95% confidence interval (CI), 11.0 to 19.1] vs. 8.2 months [95% CI, 6.5 to 12.0]; p < 0.001; and OS: median, 38.0 months [95% CI, 32.2 to not assessable] vs. 25.7 months [95% CI, 18.3 to not assessable]; p=0.005). In the PSM cohort of 57 matched pairs of patients, DFS and OS were better in the adjuvant chemotherapy group than in the observation group (p < 0.001 and p=0.038, respectively). In the multivariate analysis, adjuvant chemotherapy was a significant favorable prognostic factor (vs. observation; DFS: hazard ratio [HR], 0.51 [95% CI, 0.36 to 0.71; p < 0.001]; OS: HR, 0.45 [95% CI, 0.29 to 0.71; p < 0.001]). @*Conclusion@#Among PDAC patients who underwent surgery following neoadjuvant FOLFIRINOX, adjuvant chemotherapy may be associated with improved survival. Randomized studies should be conducted to validate this finding.
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Background@#Anterolateral thigh (ALT) flaps are versatile soft tissue flaps that have become the standard soft-tissue flaps used for head and neck reconstruction. They provide a long vascular pedicle, constant vessel diameter, abundant soft tissue coverage, and minimal donor site morbidity. The ALT flap was initially designed on the basis of a septocutaneous (SC) perforator. However, more recent research has shown that a substantial number of ALT flaps are now based on musculocutaneous (MC) perforators, and the ratio between MC and SC perforators varies among studies. In this study, we analyzed the perforating pattern of ALT flaps along with their clinical outcomes during head and neck reconstruction in the Korean population. @*Methods@#From October 2016 to July 2020, 68 patients who had undergone an ALT flap procedure for head and neck reconstruction were enrolled retrospectively. The perforating pattern of the cutaneous perforator vessel (MC perforator/SC perforator/oblique branch), pedicle length, and flap size were analyzed intraoperatively. Patient demographics and flap necrosis rates were also calculated. @*Results@#The highest number of cutaneous perforator vessels supplying the ALT flap were the MC perforators (87%). The proportion of MC perforators was significantly higher than that of the SC perforators and oblique branches. Flap necrosis occurred in seven cases (11.86%); sex, hypertension, diabetes mellitus, coronary artery disease, perforator course, and history of radiotherapy did not significantly affect flap necrosis. @*Conclusion@#The ALT free flap procedure remains popular for reconstruction of the head and neck. In this study, we observed that the majority of cutaneous vessels supplying the flaps were MC perforators (87%). When using the MC perforator during flap elevation, careful dissection of the perforator is required to achieve successful ALT flaps because intramuscular dissection is difficult. Perforator pattern and history of radiotherapy did not affect flap necrosis.
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Complications arising from breast augmentation procedures are broadly categorized as either surgery-related or prosthesis-related. Many reports have described complications associated with breast augmentation. However, to date, periareolar post-inflammatory hyperpigmentation (PIH) after breast augmentation has not been reported. Herein, we report a case of PIH after augmentation mammoplasty using a silicone implant through the periareolar approach. A 35-year-old woman, who underwent bilateral breast augmentation using a periareolar approach, presented with bilateral periareolar tissue changes, with dark brown, irregular macules appearing 6 weeks postoperatively. Based on clinical symptoms and histological examination, the lesion was diagnosed as PIH. Topical hydroquinone and retinoic acid were applied for 8 weeks after the pigmentation appeared. After 6 months of observation, the pigmentation faded. To summarize, we report a case of pigmentation around the bilateral nipples after periareolar breast augmentation along with a literature review.
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Background/Aims@#The endoscopic step-up approach is accepted as the preferred treatment for complicated or symptomatic walled-off necrosis (WON). Direct endoscopic necrosectomy (DEN) is an effective therapeutic option, but few reports describe long-term follow-up in this patient population. Thus, we aim to assess the long-term outcomes of DEN following severe necrotizing pancreatitis. @*Methods@#The data of all acute pancreatitis patients who underwent DEN following endoscopic transmural drainage from six referral centers between 2007 and 2017 were retrospectively collected. @*Results@#Sixty patients (76.7% male, mean age 48.3 years) underwent a median of 4 sessions of DEN starting at a median of 45.5 days after the onset of acute pancreatitis. Clinical success was achieved in 51 patients (85%), with a 35% complication rate and a 5% mortality rate. Using multivariate analysis, the risk factor associated with DEN failure or major DEN complications requiring intervention or surgery was an identified bacterial/fungal WON infection (odds ratio, 19.3; 95% confidence interval, 1.5 to 261.7). During the median follow-up period of 27 months, complicated WON recurrence was observed in 5.3% of patients, and long-term complications occurred in 24.6% of patients (four exocrine insufficiency, nine newly developed diabetes mellitus, one recurrent small bowel obstruction, one chylous ascites). @*Conclusions@#Considering that long-term complications are similar to those observed after pancreatectomy, DEN should be performed meticulously while minimizing damage to the viable pancreatic parenchyma with adequate antibiotic escalation.
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Background@#The advancement of treatment with direct-acting antiviral (DAA) agents has improved the cure rate of hepatitis C virus (HCV) infection close to 100%. The aim of our study was to assess the real-world effectiveness and safety of DAA regimens for the treatment of patients with chronic HCV genotype 2. @*Methods@#We retrospectively analyzed the clinical data of patients treated with sofosbuvir plus ribavirin (SOF + RBV) or glecaprevir/pibrentasvir (G/P) for chronic HCV genotype 2 infection at seven university hospitals in the Korean southeast region. @*Results@#SOF + RBV therapy produced an 89% and 98.3% sustained virologic response 12 week (SVR12) after treatment completion in the full analysis set and per-protocol set, respectively, and the corresponding values for G/P therapy were 89.5% and 99.2%, respectively. The difference between the treatments was probably because 6.2% (59/953) of patients in the SOF + RBV group did not complete the treatment and 9.8% (14/143) in the G/P group did not test HCV RNA after treatment completion. Adverse events (A/Es) were reported in 59.7% (569/953) and 25.9% (37/143) of the SOF + RBV and G/P groups, respectively. In the SOF + RBV group, 12 (1.26%) patients discontinued treatment owing to A/Es, whereas no patients discontinued treatment because of A/Es in the G/P group. @*Conclusion@#In both treatment groups, SVR was high when treatment was completed.However, there was a high dropout rate in the SOF + RBV group, and the dropout analysis showed that these were patients with liver cirrhosis (LC; 43/285, 15.1%), especially those with decompensated LC (12/32, 37.5%). Therefore, an early initiation of antiviral therapy is recommended for a successful outcome before liver function declines. Furthermore, patients with decompensated LC who are considered candidates for SOF + RBV treatment should be carefully monitored to ensure that their treatment is completed, especially those with low hemoglobin and high alanine transaminase.
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Purpose@#This study evaluated the efficacy of adjuvant chemotherapy (AC) in patients with resected ampulla of Vater (AoV) carcinoma. @*Materials and Methods@#Data from 646 patients who underwent surgical resection at Asan Medical Center between 2000 and 2017 were retrospectively reviewed. @*Results@#The median age of the patients was 62 years, and 54.2% were male. Patients were classified into AC group (n=165, 25.5%) and no AC group (n=481, 74.5%). With a median follow-up duration of 88 months, in patients with stage I, II, III, median recurrence-free survival (RFS) was not reached, 44 months, and 15 months, respectively, and the median overall survival (OS) were not reached, 88 months and 35 months, respectively. Despite no statistical significance, RFS and OS were better in stage II patients with AC than in those without AC (median RFS, 151 months vs. 38 months; p=0.156 and median OS, 153 months vs. 74 months; p=0.299). In multivariate analysis for RFS and OS, TNM stage, R1 resection status, presence of lymphovascular invasion, and perineural invasion remained significant factors, whereas AC (hazard ratio [HR], 0.74; 95% confidence interval [CI], 0.54 to 1.00; p=0.052) was marginally related with RFS. After propensity score matching in only stage II/III patients, RFS and OS with AC were numerically longer than those without AC (HR, 0.80; 95% CI, 0.60 to 1.06; p=0.116 and HR, 0.77; 95% CI, 0.56 to 1.06; p=0.111). @*Conclusion@#AC with fluoropyrimidine did not improve survival of patients with resected AoV carcinoma. However, multivariate analysis with prognostic factors showed a marginally significant survival benefit with AC.
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Purpose@#Drug-coated devices have been widely accepted as one of the most promising therapies for femoropopliteal artery revascularization. A recent meta-analysis showed increased mortality in patients treated with drug-coated devices. We sought to examine the association between mortality and drug-coated devices after the treatment of the femoropopliteal artery based on the Korea national administrative claims data. @*Methods@#In the National Health Insurance Service database from August 2015 to December 2017, we identified patients with femoropopliteal artery revascularization using percutaneous transluminal angioplasty (PTA), bare metal stents (BMS), drug-coated balloon (DCB), or drug-eluting stents (DES). Kaplan-Meier methods were used to estimate the survival among devices, and log-rank tests were used to evaluate differences between groups. Adjusted hazard ratios (aHRs) were computed using the inverse probability of treatment weightings (IPTW). @*Results@#There were 1,724 patients (mean age, 70.9 ± 10.7 years; male, 1,350 [78.3%]) included in the analysis. The median follow-up period was 552 days (interquartile range, 404–688 days). There was a difference in IPTW-adjusted mortality risk among device types (26.3% in PTA, 22.1% in BMS, 17.7% in DCB, and 17.8% in DES; P = 0.004). IPTW-adjusted Cox proportional hazard analysis showed that drug-coated devices were associated with decreased all-cause mortality risk (aHR, 0.70; 95% confidence interval, 0.58–0.86). @*Conclusion@#Our real-world analysis showed that there was no evidence of increased all-cause mortality after femoropopliteal artery revascularization with drug-coated devices compared with non-drug-coated devices.
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Background@#The advancement of treatment with direct-acting antiviral (DAA) agents has improved the cure rate of hepatitis C virus (HCV) infection close to 100%. The aim of our study was to assess the real-world effectiveness and safety of DAA regimens for the treatment of patients with chronic HCV genotype 2. @*Methods@#We retrospectively analyzed the clinical data of patients treated with sofosbuvir plus ribavirin (SOF + RBV) or glecaprevir/pibrentasvir (G/P) for chronic HCV genotype 2 infection at seven university hospitals in the Korean southeast region. @*Results@#SOF + RBV therapy produced an 89% and 98.3% sustained virologic response 12 week (SVR12) after treatment completion in the full analysis set and per-protocol set, respectively, and the corresponding values for G/P therapy were 89.5% and 99.2%, respectively. The difference between the treatments was probably because 6.2% (59/953) of patients in the SOF + RBV group did not complete the treatment and 9.8% (14/143) in the G/P group did not test HCV RNA after treatment completion. Adverse events (A/Es) were reported in 59.7% (569/953) and 25.9% (37/143) of the SOF + RBV and G/P groups, respectively. In the SOF + RBV group, 12 (1.26%) patients discontinued treatment owing to A/Es, whereas no patients discontinued treatment because of A/Es in the G/P group. @*Conclusion@#In both treatment groups, SVR was high when treatment was completed.However, there was a high dropout rate in the SOF + RBV group, and the dropout analysis showed that these were patients with liver cirrhosis (LC; 43/285, 15.1%), especially those with decompensated LC (12/32, 37.5%). Therefore, an early initiation of antiviral therapy is recommended for a successful outcome before liver function declines. Furthermore, patients with decompensated LC who are considered candidates for SOF + RBV treatment should be carefully monitored to ensure that their treatment is completed, especially those with low hemoglobin and high alanine transaminase.
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Purpose@#This study evaluated the efficacy of adjuvant chemotherapy (AC) in patients with resected ampulla of Vater (AoV) carcinoma. @*Materials and Methods@#Data from 646 patients who underwent surgical resection at Asan Medical Center between 2000 and 2017 were retrospectively reviewed. @*Results@#The median age of the patients was 62 years, and 54.2% were male. Patients were classified into AC group (n=165, 25.5%) and no AC group (n=481, 74.5%). With a median follow-up duration of 88 months, in patients with stage I, II, III, median recurrence-free survival (RFS) was not reached, 44 months, and 15 months, respectively, and the median overall survival (OS) were not reached, 88 months and 35 months, respectively. Despite no statistical significance, RFS and OS were better in stage II patients with AC than in those without AC (median RFS, 151 months vs. 38 months; p=0.156 and median OS, 153 months vs. 74 months; p=0.299). In multivariate analysis for RFS and OS, TNM stage, R1 resection status, presence of lymphovascular invasion, and perineural invasion remained significant factors, whereas AC (hazard ratio [HR], 0.74; 95% confidence interval [CI], 0.54 to 1.00; p=0.052) was marginally related with RFS. After propensity score matching in only stage II/III patients, RFS and OS with AC were numerically longer than those without AC (HR, 0.80; 95% CI, 0.60 to 1.06; p=0.116 and HR, 0.77; 95% CI, 0.56 to 1.06; p=0.111). @*Conclusion@#AC with fluoropyrimidine did not improve survival of patients with resected AoV carcinoma. However, multivariate analysis with prognostic factors showed a marginally significant survival benefit with AC.
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Purpose@#Drug-coated devices have been widely accepted as one of the most promising therapies for femoropopliteal artery revascularization. A recent meta-analysis showed increased mortality in patients treated with drug-coated devices. We sought to examine the association between mortality and drug-coated devices after the treatment of the femoropopliteal artery based on the Korea national administrative claims data. @*Methods@#In the National Health Insurance Service database from August 2015 to December 2017, we identified patients with femoropopliteal artery revascularization using percutaneous transluminal angioplasty (PTA), bare metal stents (BMS), drug-coated balloon (DCB), or drug-eluting stents (DES). Kaplan-Meier methods were used to estimate the survival among devices, and log-rank tests were used to evaluate differences between groups. Adjusted hazard ratios (aHRs) were computed using the inverse probability of treatment weightings (IPTW). @*Results@#There were 1,724 patients (mean age, 70.9 ± 10.7 years; male, 1,350 [78.3%]) included in the analysis. The median follow-up period was 552 days (interquartile range, 404–688 days). There was a difference in IPTW-adjusted mortality risk among device types (26.3% in PTA, 22.1% in BMS, 17.7% in DCB, and 17.8% in DES; P = 0.004). IPTW-adjusted Cox proportional hazard analysis showed that drug-coated devices were associated with decreased all-cause mortality risk (aHR, 0.70; 95% confidence interval, 0.58–0.86). @*Conclusion@#Our real-world analysis showed that there was no evidence of increased all-cause mortality after femoropopliteal artery revascularization with drug-coated devices compared with non-drug-coated devices.
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BACKGROUND@#After surgical repair of chronic rotator cuff tears, healing of the repaired tendons often fails and is accompanied by high-level fatty degeneration. Our purpose was to explore the effects of polydeoxyribonucleotide (PDRN) and polynucleotide (PN) on tendon healing and the reversal of fatty degeneration in a chronic rotator cuff tear model using a rat infraspinatus. @*METHODS@#Sixty rats were randomly assigned to the following three groups (20 rats per group: 12 for histological evaluation and 8 for mechanical testing): saline + repair (SR), PDRN + repair (PR), and PN + repair (PNR). The right shoulder was used for experimental intervention, and the left served as a control. Four weeks after detaching the infraspinatus, the torn tendon was repaired. Saline, PDRN, and PN were applied to the repair sites. Histological evaluation was performed 3 and 6 weeks after repair and biomechanical analysis was performed at 6 weeks. @*RESULTS@#Three weeks after repair, the PR and PNR groups had more CD168-stained cells than the SR group. The PR group showed a larger cross-sectional area (CSA) of muscle fibers than the SR and PNR groups. Six weeks after repair, the PR and PNR groups showed more adipose cells, less CD68-stained cells, and more parallel tendon collagen fibers than the SR group. The PR group had more CD 68-stained cells than the PNR group. The PR group showed a larger CSA than the SR group. The mean load-to-failure values of the PR and PNR groups were higher than that of the SR group, although these differences were not significant. @*CONCLUSION@#PDRN and PN may improve tendon healing and decrease fatty degeneration after cuff repair.
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Background/Aims@#The effect of hyperammonemia on the mortality in patients with liver cirrhosis is well documented. However, little is known about the impact of hyperammonemia on mortality among intensive care unit patients without hepatic disease. We aimed to investigate factors associated with non-hepatic hyperammonemia among intensive care unit patients and to evaluate the factors related to the 7- and 90-day mortality. @*Methods@#Between February 2016 and February 2020, 948 patients without hepatic disease who had 972 episodes of admission to the intensive care unit were retrospectively enrolled and classified as hyperammonemia grades 0 (≤ 80 µg/dL; 585 [60.2%]), 1 (≤ 160 µg/dL; 291 [29.9%]), 2 (≤ 240 µg/dL; 55 [5.7%]), and 3 (> 240 µg/dL; 41 [4.2%]). Factors associated with hyperammonemia and the 7- and 90-day mortality were evaluated by multivariate logistic regression analysis and Cox regression analysis, respectively. Kaplan-Meier survival curves for the 7- and 90-day mortality were constructed. @*Results@#The independent risk factors for hyperammonemia were male sex (odds ratio, 1.517), age (0.984/year), acute brain failure (2.467), acute kidney injury (1.437), prothrombin time-international normalized ratio (2.272/unit), and albumin (0.694/g/dL). The 90-day mortality rate in the entire cohort was 24.3% and gradually increased with increasing hyperammonemia grade at admission (17.9%, 28.2%, 43.6%, and 61.0% in patients with grades 0, 1, 2, and 3, respectively). Additionally, non-hepatic hyperammonemia was an independent predictor of the 90- day mortality in intensive care unit patients. @*Conclusions@#Non-hepatic hyperammonemia is common (39.8%) and associated with the 90-day mortality among intensive care unit patients.
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Coronavirus disease 2019 (COVID-19) has developed as a pandemic, and it created an outrageous effect on the current healthcare and economic system throughout the globe. To date, there is no appropriate therapeutics or vaccines against the disease. The entire human race is eagerly waiting for the development of new therapeutics or vaccines against severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). Efforts are being taken to develop vaccines at a rapid rate for fighting against the ongoing pandemic situation. Amongst the various vaccines under consideration, some are either in the preclinical stage or in the clinical stages of development (phase-I, -II, and -III). Even, phase-III trials are being conducted for some repurposed vaccines like Bacillus Calmette–Guérin, polio vaccine, and measlesmumps-rubella. We have highlighted the ongoing clinical trial landscape of the COVID-19 as well as repurposed vaccines. An insight into the current status of the available antigenic epitopes for SARS-CoV-2 and different types of vaccine platforms of COVID-19 vaccines has been discussed. These vaccines are highlighted throughout the world by different news agencies. Moreover, ongoing clinical trials for repurposed vaccines for COVID-19 and critical factors associated with the development of COVID-19 vaccines have also been described.
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Soft tissue calcifications after burn injuries are commonly found in the periarticular region. They can easily be found because they cause severe pain and distress to the patient. However, a long period is required to identify extra-articular soft tissue calcification after burn injuries because they have no specific symptoms. Herein, we present the case of a patient with dystrophic extra-articular soft tissue calcification after a burn injury. A 70-year-old woman developed a non-healing ulcer in the right lower leg area two months before presentation to the hospital. She had third-degree flame burns on the anteromedial tibial area of the right leg approximately 40 years prior, and there had been no particular problem. Examination revealed chronic ulcers, and a review of radiograph findings revealed irregular calcification. The wound was treated with wide excision with a skin graft, and it healed without complications. During follow-up one month later, no recurrence of the calcification or ulceration of the lesion was found.
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Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a novel coronavirus (CoV), has recently emerged as a significant pathogen for humans and the cause for the recent outbreak of the 2019 novel coronavirus disease (COVID-19) throughout the globe. For developing any preventive measure, an understanding of the zoonotic pattern for this virus is a necessity. We should have a clear knowledge of its reservoir host, its distribution pattern and spreading routes. Information about zoonotic reservoirs and its transmission among them can help to understand the COVID-19 outbreaks. In this article, we discuss about the bats as the zoonotic reservoir of several CoV strains, co-existence of bats and CoV/viruses, the sequence similarity of SARS-CoV-2 with bat SARS-like CoV, the probable source of the origin of SARS-CoV-2 strain and COVID-19 outbreak, intermediate host of CoVs and SARS-CoV-2, human to human transmission and the possibility to maintain the zoonotic barriers. Our knowledge about the zoonotic reservoir of SARS-CoV-2 and its transmission ability may help develop the preventive measures and control for the future outbreak of CoV.
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@#GNE myopathy is a rare autosomal recessive early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscles and commonly spares the quadriceps femoris muscles. It is caused by biallelic mutations in GNE gene encoding for a single protein with key enzymatic activities in sialic acid biosynthetic pathway. However, diagnosing GNE myopathy can be challenging due to its phenotypic variability. This is the report of a 35-year-old man with GNE myopathy who presented with a low back pain for four years. A lumbar magnetic resonance imaging showed atrophy of lumbar paraspinal muscles. GNE myopathy was confirmed by genetic analysis. This case is unique and broaden the early clinical spectrum of GNE myopathy.
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Background/Aims@#Interventional endoscopists may utilize contrast-enhanced harmonic endoscopic ultrasound (CEHEUS) for image guidance during radiofrequency ablation (RFA) because of its capability to delineate real-time tumor perfusion dynamics. The purpose of this study was to assess the utility of CEH-EUS for the guidance and monitoring of en-doscopic RFA. @*Methods@#Nineteen consecutive patients with solid abdominal tumors who underwent CEH-EUS and endo-scopic RFA were included. The extent of the ablation was as-sessed by CEH-EUS at 5 to 7 days after RFA. Additional RFAs were performed under CEH-EUS guidance. @*Results@#The diag-noses were as follows: nonfunctioning neuroendocrine tumor (n=13), solid pseudopapillary neoplasm (SPN) (n=2), insu-linoma (n=1), left adrenal adenoma (n=2), and left adrenal oligometastasis (n=1). Pre-CEH-EUS findings revealed that 17 cases showed hyperenhanced patterns and two cases of SPN showed isoenhanced patterns. CEH-EUS-assisted RFA was technically feasible in all 19 patients. After the first RFA session, seven patients of the treated tumors showed the disappearance of intratumoral enhancement on CEH-EUS, whereas 12 showed residual contrast enhancement. Twelve patients with incomplete ablation were further treated with additional RFA under real-time CEH-EUS guidance. Radiolog-ic complete response was observed in 13 patients (68.4%). Among the 35 ablation procedures, the only adverse events were two episodes of pancreatitis (5.7%; 1 moderate and 1mild). During the median follow-up of 28 months, the local recurrence rate was 7.7%. @*Conclusions@#The application of CEH-EUS for RFA could be helpful in assessing early treat-ment response after ablation and targeting residual viable tumors during additional ablation sessions.
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Background/Aims@#The natural history of spontaneous decrease in the size of pancreatic cystic lesions (PCLs) without high-risk stigmata is under investigation. This study aimed to investigate the timing of spontaneous decrease in the size of PCLs without high-risk stigmata and to identify the characteristics associated with their complete resolution. @*Methods@#From 2000 to 2016, patients with spontaneous decreases in PCL size on computed tomography (CT) and/or magnetic resonance imaging (MRI) who had at least 1 year of follow-up were evaluated retrospectively. @*Results@#A total of 78 patients underwent follow-up for an average of 55.7 months. Most patients were asymptomatic, and 35 (37.2%) showed complete resolution. The initial mean PCL size was 1.6±0.9 cm (range, 0.5 to 5.6 cm). The average time to initial decrease in size and complete resolution of PCLs were 32.1 and 41.5 months, respectively. Compared with PCLs that completely resolved, presence of underlying malignancy was associated with partial resolution of PCLs in multivariable analysis (hazard ratio, 0.51; 95% confidence interval, 0.32 to 0.81; p=0.005). Endoscopic ultrasound (EUS) identified detailed findings, especially the presence of septum (p<0.001), calcification (p=0.015) and lobulation (p=0.001) that were not found on CT/MRI. @*Conclusions@#Asymptomatic small PCLs without high-risk stigmata can naturally decrease in size at approximately 3 years, and complete resolution can be expected in the absence of underlying malignancy.Regular follow-up of approximately 3 years with EUS may be a reasonable and safe alternative when planning the initial treatment of small PCLs without high-risk stigmata.
