Homozygous mutations in NUDT15 R139C are known as the major factor associated with thiopurine-induced early leukopenia, particularly in Asian patients. Therefore, NUDT15 genotyping is currently recommended before thiopurine treatment to identify patients who are NUDT15 poor metabolizers and consider the use of an alternative immunomodulatory therapy. We report a case of a 12-year-old Korean girl with Crohn’s disease (CD), in whom thiopurine-induced leukopenia was prevented by initiation of azathioprine (AZA) therapy at a low dose (0.5 mg/kg/day) and early detection of significant hair loss and white blood cell (WBC) count decrease at 17 days from the start of AZA treatment. The WBC count dropped from 8,970/μL to 3,370/μL in 2 weeks, and AZA treatment was stopped because of concerns of potential leukopenia in the near future. Her WBC count recovered to 5,120/μL after 3 weeks. Gene analysis later revealed that she had a homozygous mutation in NUDT15 R139C, resulting in a poor metabolizing activity of NUDT15. In situations when NUDT15 genotyping is unavailable, initiation of AZA therapy at 0.5 mg/kg/day with close observation of hair loss and WBC counts within 2 weeks may be an alternative way to prevent thiopurine-induced early leukopenia in Asian children with CD.
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Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation Xinmiao He, Ming Tian, Wentao Wang, Yanzhong Feng, Zhongqiu Li, Jiahui Wang, Yan Song, Jinfeng Zhang, Di Liu Veterinary Sciences.2023; 10(5): 307. CrossRef
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Fibrosis is characterized by excessive accumulation of extracellular matrix components. The fibrotic process ultimately leads to organ dysfunction and failure in chronic inflammatory and metabolic diseases such as pulmonary fibrosis, advanced kidney disease, and liver cirrhosis. Idiopathic pulmonary fibrosis (IPF) is a common form of progressive and chronic interstitial lung disease of unknown etiology. Pathophysiologically, the parenchyma of the lung alveoli, interstitium, and capillary endothelium becomes scarred and stiff, which makes breathing difficult because the lungs have to work harder to transfer oxygen and carbon dioxide between the alveolar space and bloodstream. The transforming growth factor beta (TGF-) signaling pathway plays an important role in the pathogenesis of pulmonary fibrosis and scarring of the lung tissue. Recent clinical trials focused on the development of pharmacological agents that either directly or indirectly target kinases for the treatment of IPF. Therefore, to develop therapeutic targets for pulmonary fibrosis, it is essential to understand the key factors involved in the pathogenesis of pulmonary fibrosis and the underlying signaling pathway. The objective of this review is to discuss the role of kinase signaling cascades in the regulation of either TGF--dependent or other signaling pathways, including Rho-associated coiled-coil kinase, c-jun N-terminal kinase, extracellular signal-regulated kinase 5, and p90 ribosomal S6 kinase pathways, and potential therapeutic targets in IPF.
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Synchronous gastric cancer and adenomatous colorectal polyp in patients with Klebsiella pneumoniae-induced pyogenic liver abscess (KP-PLA) and bacteremia is a rare presentation. A 58-year-old man with a 6-month history of diabetes mellitus (DM) presented with febrile sensation and dull abdominal pain in the right upper quadrant of the abdomen. Subsequent to laboratory test results and abdominal computed tomography findings, KP-PLA with bacteremia was diagnosed. After intravenous antibiotic administration, his symptoms improved, and upper endoscopy and colonoscopy were performed to evaluate the cause of KP-PLA. Biopsy specimens of the prepyloric anterior wall revealed a moderately differentiated adenocarcinoma. Endoscopic mucosal resection of the colon revealed high-grade dysplasia. Early gastric cancer (EGC) and adenomatous colorectal polyps with high-grade dysplasia concomitant with KP-PLA and bacteremia were diagnosed in our patient who had DM. Intravenous antibiotic treatment for KP-PLA, subtotal gastrectomy for EGC, and colonoscopic mucosal resection for the colon polyp were performed. After 25 days of hospitalization, subtotal gastrectomy with adjacent lymph node dissection was performed. Follow-up ultrasound imaging showed resolution of the abscess 5 weeks post-antibiotic treatment, as well as no tumor metastasis. Upper gastrointestinal endoscopy and colonoscopy should be performed to evaluate gastric cancer in patients with PLA or bacteremia, accompanied with DM or an immunocompromised condition.
Pregnancy-related ocular diseases develop mostly in the third trimester of pregnancy. Here, we describe a case of a pregnant woman with a choroidal mass that caused a serous retinal detachment during the first trimester of pregnancy. The patient’s condition resolved spontaneously after an abortion.
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Background Non-tunneled catheters (NTCs) are used for hemodialysis (HD) in many centers in which fluoroscopy is not easily accessed despite high complication rates and conditions requiring long-term HD. Therefore, here we aimed to evaluate the superiority of catheter-related outcomes after the application of tunneled cuffed catheter (TCC) without fluoroscopy versus unconditioned NTC insertion.
Methods We divided the participants into two phases: those receiving NTCs between March 2010 and February 2011 (phase I), and those receiving TCCs or NTCs between March 2011 and February 2012 (phase II). Catheter survival, nurse satisfaction, and reasons for catheter removal were analyzed.
Results Two hundred and sixty patients in phase I and 300 patients in phase II were enrolled in this study. The success rate of TCC insertion was 99.2%. The catheter survival rate in phase I was 65.5% at 1 month, while that in phase II was 74.9% at 1 month (p=0.023). We compared catheter survival between TCCs and NTCs for all periods regardless of phase. The TCC survival rate was higher than the NTC survival rate (p<0.001). Catheter-associated problems led to catheter removal in 97 patients (26.6%) in phase I and 68 patients (18.5%) in phase II (p=0.009). Among 14 HD nurses, all reported being satisfied with manipulation during pre-/post-HD, manupulation during HD, and overall. Eleven HD nurses (78.6%) reported being satisfied with the workload.
Conclusion Compared with unconditional NTC insertion for HD, TCC insertion without fluoroscopy improved the overall catheter survival and nurse satisfaction rates.
Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare but fatal complication of cancer and causes pulmonary hypertension and acute/subacute right heart failure. PTTM is most commonly associated with gastric cancer and more rarely associated with pancreatic cancer. We report a case of progressive right heart failure associated with clinically diagnosed pancreatic cancer, suggesting PTTM.
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Background This study was conducted to analyze clinical factors that can affect pregnancy rates in normal responders undergoing the freeze-all policy in in vitro fertilization.
Methods We evaluated 153 embryo transfer cycles in 89 infertile women with normal response to controlled ovarian stimulation (COS). After COS, all embryos were cultured to the blastocyst stage, and good quality blastocysts were vitrified for elective frozen-thawed embryo transfer (FET). Clinical variables associated with COS and the results of COS and culture, including the number of retrieved oocytes, fertilized oocytes, and frozen blastocysts were compared between the pregnant group and the non-pregnant group.
Results After a single cycle of COS for each patient, 52 patients became pregnant while 37 did not. Significant differences were observed in the number of matured oocytes, fertilized oocytes, frozen blastocysts, and transferred embryos. The number of frozen blastocysts in the pregnant group was almost twice that in the non-pregnant group (5.6±3.1 vs. 2.8±1.9, p<0.001). The area under the receiver operating characteristic curve for the 4 frozen blastocysts was 0.801 in the pregnant group.
Conclusion In the freeze-all policy, the number of matured oocytes, number of fertilized oocytes, and number of frozen blastocysts might be predictive factors for pregnancy.
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Adrenal cystic lymphangiomas are extremely rare entities that are often identified incidentally, with less than 60 cases reported to date. We found a protruding ovoid mass consisting of a multiloculated cystic lesion within right adrenal gland in the cadaver of a 75-year-old Korean man. The epithelial cells lining the adrenal cyst were diffusely positive for cluster of differentiation 31 and podoplanin, and negative for pan-cytokeratin. The histopathological diagnosis confirmed a cystic lymphangioma arising from the adrenal gland. Post-mortem findings of the present case are discussed based on the clinicopathological features of adrenal cystic lymphangiomas.
Background The anatomy of middle cerebral artery (MCA) aneurysms has been noted to be unfavorable for endovascular treatment. The purpose of this study was to assess the feasibility and efficacy of coiling for MCA aneurysms.
Methods From January 2004 to December 2015, 72 MCA aneurysms (38 unruptured and 34 ruptured) in 67 patients were treated with coils. Treatment-related complications, clinical outcomes, and immediate and follow-up angiographic outcomes were retrospectively analyzed.
Results Aneurysms were located at the MCA bifurcation (n=60), 1st segment (M1, n=8), and 2nd segment (M2, n=4). Sixty-nine aneurysms (95.8%) were treated by neck remodeling techniques using multi-catheter (n=44), balloon (n=14), stent (n=8), or combination of these (n=3). Only three aneurysms were treated by single-catheter technique. Angiographic results were 66 (91.7%) complete, five (6.9%) remnant neck, and one (1.4%) incomplete occlusion. Procedural complications included aneurysm rupture (n=1), asymptomatic coil migration to the distal vessel (n=1), and acute thromboembolism (n=10) consisting of eight asymptomatic and two symptomatic events. Treatment-related permanent morbidity and mortality rates were 4.5% and 3.0%, respectively. There was no bleeding on clinical follow-up (mean, 29 months; range, 6-108 months). Follow-up angiographic results (mean, 26 months; range, 6-96 months) in patients included one major and three minor recanalizations.
Conclusion Coiling of MCA aneurysms could be a technically feasible and clinically effective treatment strategy with acceptable angiographic and clinical outcomes. However, the safety and efficacy of this technique as compared to surgical clipping remains to be ascertained.
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Background The present study aimed to evaluate the clinical association between cadmium exposure and hearing impairment among the Korean population.
Methods This retrospective cross-sectional study used the data obtained from the Korean National Health and Nutrition Examination Survey were used for our study. Finally, 3,228 participants were included in our study, which were then divided into quartiles based on their blood cadmium levels: first quartile (1Q), second quartile (2Q), third quartile (3Q), and fourth quartile (4Q) groups. The hearing thresholds were measured using an automatic audiometer at 0.5, 1, 2, 3, 4, and 6 kHz. Hearing loss (HL) was defined as >25 dB AHT.
Results All the groups had 807 participants each. The area under the receiver operating characteristic curves of cadmium level for HL were 0.634 (95% confidence interval [CI], 0.621–0.646). The participants in the 4Q group had higher Low/Mid-Freq, High-Freq, and AHT values than those in the other groups in the multivariate analysis after adjusting for confounding factors. The logistic regression showed that the OR for HL per 1 µg/L increase in cadmium was 1.25 (95% CI, 1.09–1.44; p=0.002) on the multivariate analysis. Moreover, the multivariate logistic regression analyses revealed that the participants in the 4Q group exhibited a 1.59-, 1.38-, and 1.41-fold higher odds for HL than those in the 1Q, 2Q, and 3Q groups, respectively.
Conclusion High cadmium level quartile was associated with increased hearing thresholds and HL among the Korean adult population.
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Background Epidermal cysts are the most common benign epithelial tumors in humans. The curative treatment of epidermal cyst is surgical excision. However, only few studies have investigated the cause and mechanism of postoperative complications of epidermal cysts. Therefore, this study aimed to evaluate the factors affecting complications of epidermal cyst after surgical treatment.
Methods Patients with histologically diagnosed epidermal cysts were selected from among 98 consecutive patients with excised benign cystic tumors from March 2014 to August 2017. Sex, age, size, mobility, site of occurrence, history of infection, history of incision and drainage, complications, history of reoperation, and method of overcoming complications was obtained by analyzing medical records retrospectively.
Results Five of the 98 patients had wound dehiscence due to surgical infection. Three of them underwent wound healing with conservative treatment without a second operation. The other two patients underwent a second operation and showed signs of preoperative infection. None of the factors showed statistical significance in relation to the occurrence of complications.
Conclusion Postoperative complications occurred when the excision of the epidermal cyst was performed at preoperative infection sites or at sites with high tension, so attention should be paid to postoperative care.
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Background We aimed to establish robust histoprognostic predictors on residual rectal cancer after preoperative chemoradiotherapy (CRT).
Methods Analyzing known histoprognostic factors in 146 patients with residual disease allows associations with patient outcome to be evaluated.
Results The median follow-up time was 77.8 months, during which 59 patients (40.4%) experienced recurrence and 41 (28.1%) died of rectal cancer. On univariate analysis, residual tumor size, ypT category, ypN category, ypTNM stage, downstage, tumor regression grade, lymphatic invasion, perineural invasion, venous invasion, and circumferential resection margin (CRM) were significantly associated with recurrence free survival (RFS) or/and cancer-specific survival (CSS) (all p<0.005). On multivariate analysis, higher ypTNM stage and CRM positivity were identified as independent prognostic factors for RFS (ypTNM stage, p=0.024; CRM positivity, p<0.001) and CSS (p=0.022, p=0.017, respectively). Furthermore, CRM positivity was an independent predictor of reduced RFS, irrespective of subgrouping according to downstage (non-downstage, p=0.001; downstage, p=0.010) or lymph node metastasis (non-metastasis, p=0.004; metastasis, p=0.007).
Conclusion CRM status may be as powerful as ypTNM stage as a prognostic indicator for patient outcome in patients with residual rectal cancer after preoperative CRT.
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Background This study aimed to assess the in-field lymph node (LN) failure rate according to LN size and to investigate effect of LN size on the survival outcome of patients with locally advanced cervical carcinoma treated with concurrent chemoradiotherapy (CCRT).
Methods A total of 310 patients with locally advanced cervical carcinoma treated with CCRT were enrolled in retrospective study. LN status was evaluated by magnetic resonance imaging. All patients received conventional external beam irradiation and high-dose rate brachytherapy, and concurrent cisplatin-based chemotherapy. In-field LN failure rate according to LN size was analyzed.
Results The median follow-up period was 83 months (range, 3-201 months). In-field LN failure rate in patients with pelvic LN size more than 10 mm was significantly higher than that in patients with pelvic LN size less than 10 mm (p<0.001). A similar finding was observed in the in-field para-aortic LN failure rate (p=0.024). The pelvic and para-aortic LN size (≥10 mm) was a significant prognostic factor of overall-survival (OS) and disease-free survival rate in univariate and multivariate analyses. The OS rate was significantly different between groups according to LN size (<10 mm vs. ≥10 mm).
Conclusion A LN of less than 10 mm in size in an imaging study is controlled by CCRT. On the other hand, in LN of more than 10 mm in size, the in-field LN failure rate increase and the prognosis deteriorate. Therefore, a more aggressive treatment strategy is needed.
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