• Journal of Yeungnam Medical Science
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• v.27 no.1
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• pp.47-51
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• 2010

We present here the case of a 13-year-old male patient with Alexander's disease who underwent surgical correction of a femur fracture. Alexander's disease is a rare and fatal disorder that affects the white matter in the brain and it causes developmental delay, psychomotor regression, spasticity, megaloencephaly and seizure. The patient had the possibility of a seizure attack during the perioperative period. We discuss the anesthetic management of a patient with Alexander's disease and we review the relevant literature.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.113-116
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• 2013

Alexander disease is a rare degenerative leukodystrophy caused by dominant mutations in glial fibrillary acidic protein (GFAP). The neonatal form of Alexander disease may manifest as frequent and intractable seizures or obstructive hydrocephalus, with rapid progression leading to severe disability or death within two years. We report a case of a 50-day-old male who presented with intractable seizures and obstructive hydrocephalus. His initial magnetic resonance imaging (MRI) suggested a tumor-like lesion in the tectal area causing obstructive hydrocephalus. Despite endoscopic third ventriculostomy and multiple administrations of antiepileptic drugs, the patient experienced intractable seizures with rapid deterioration of his clinical status. After reviewing serial brain MRI scans, Alexander disease was suspected. Subsequently, we confirmed the de novo missense mutation in GFAP (c.1096T>C, Y366H). Although the onset was slightly delayed from the neonatal period (50 days old), we concluded that the overall clinical features were consistent with the neonatal form of Alexander disease. Furthermore, we also suspected that a Y366 residue might be closely linked to the neonatal form of Alexander disease based on a literature review.

• Korean Journal of Radiology
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• v.24 no.8
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• pp.795-806
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• 2023

Occupational lung diseases (OLD) are a group of preventable conditions caused by noxious inhalation exposure in the workplace. Workers in various industries are at a higher risk of developing OLD. Despite regulations contributing to a decreased incidence, OLD remain among the most frequently diagnosed work-related conditions, contributing to significant morbidity and mortality. A multidisciplinary discussion (MDD) is necessary for a timely diagnosis. Imaging, particularly computed tomography, plays a central role in diagnosing OLD and excluding other inhalational lung diseases. OLD can be broadly classified into fibrotic and non-fibrotic forms. Imaging reflects variable degrees of inflammation and fibrosis involving the airways, parenchyma, and pleura. Common manifestations include classical pneumoconioses, chronic granulomatous diseases (CGD), and small and large airway diseases. Imaging is influenced by the type of inciting exposure. The findings of airway disease may be subtle or solely uncovered upon expiration. High-resolution chest CT, including expiratory-phase imaging, should be performed in all patients with suspected OLD. Radiologists should familiarize themselves with these imaging features to improve diagnostic accuracy.

• Molecules and Cells
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• v.37 no.6
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• pp.441-448
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• 2014

Inflammasomes are specialized signaling platforms critical for the regulation of innate immune and inflammatory responses. Various NLR family members (i.e., NLRP1, NLRP3, and IPAF) as well as the PYHIN family member AIM2 can form inflammasome complexes. These multiprotein complexes activate inflammatory caspases (i.e., caspase-1) which in turn catalyze the maturation of select pro-inflammatory cytokines, including interleukin (IL)-$1{\beta}$ and IL-18. Activation of the NLRP3 inflammasome typically requires two initiating signals. Toll-like receptor (TLR) and NOD-like receptor (NLR) agonists activate the transcription of pro-inflammatory cytokine genes through an NF-${\kappa}B$-dependent priming signal. Following exposure to extracellular ATP, stimulation of the P2X purinoreceptor-7 ($P2X_7R$), which results in $K^+$ efflux, is required as a second signal for NLRP3 inflammasome formation. Alternative models for NLRP3 activation involve lysosomal destabilization and phagocytic NADPH oxidase and /or mitochondria-dependent reactive oxygen species (ROS) production. In this review we examine regulatory mechanisms that activate the NLRP3 inflammasome pathway. Furthermore, we discuss the potential roles of NLRP3 in metabolic and cognitive diseases, including obesity, type 2 diabetes mellitus, Alzheimer's disease, and major depressive disorder. Novel therapeutics involving inflammasome activation may result in possible clinical applications in the near future.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.24 no.1
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• pp.30-37
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• 2021

Purpose: To investigate the differences in the colon microbiota composition of Hirschsprung's disease (HSCR) patients with and without a history of postoperative Hirschsprung's associated enterocolitis (HAEC). Methods: Colon tissue microbiota was characterized by bacterial deoxyribonucleic acid (DNA) extraction and 16S rDNA sequencing for taxonomic classification and comparison. Results: The sequence diversity richness within samples was significantly higher in samples from patients with a history of postoperative HAEC. We observed an increased relative abundance of the phyla Bacteroidetes, Firmicutes and Cyanobacteria in HAEC patients and Fusobacteria, Actinobacteria and Proteobacteria in HSCR patients and, an increased relative abundance of the genera Dolosigranulum, Roseouria and Streptococcus in HAEC patients and Propionibacterium and Delftia in HSCR patients. Conclusion: Our findings provide evidence that the colon tissue microbiota composition is different in HSCR patients with and without postoperative HAEC.

• Neurospine
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• v.15 no.4
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• pp.338-347
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• 2018

Objective: Patients with extradural spine tumors are at an increased risk for intraoperative cerebrospinal fluid (CSF) leaks and postoperative wound dehiscence due to radiotherapy and other comorbidities related to systemic cancer treatment. In this case series, we discuss our experience with the management of intraoperative durotomies and wound closure strategies for this complex surgical patient population. Methods: We reviewed our recent single-center experience with spine surgery for primarily extradural tumors, with attention to intraoperative durotomy occurrence and postoperative wound-related complications. Results: A total of 105 patients underwent tumor resection and spinal reconstruction with instrumented fusion for a multitude of pathologies. Twelve of the 105 patients (11.4%) reviewed had intraoperative durotomies. Of these, 3 underwent reoperation for a delayed complication, including 1 epidural hematoma, 1 retained drain, and 1 wound infection. Of the 93 uncomplicated index operations, there were a total of 9 reoperations: 2 for epidural hematoma, 3 for wound infection, 2 for wound dehiscence, and 2 for recurrent primary disease. One patient was readmitted for a delayed spinal fluid leak. The average length of stay for patients with and without intraoperative durotomy was 7.3 and 5.9 days, respectively, with a nonsignificant trend for an increased length of stay in the durotomy cases (p=0.098). Conclusion: Surgery for extradural tumor resections can be complicated by CSF leaks due to the proximity of the tumor to the dura. When encountered, a variety of strategies may be employed to minimize subsequent morbidity.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.12
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• pp.4833-4837
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• 2015

Biomarkers for preclinical diagnosis of cancer are valuable tools for detection of malignant tumors at early stages in groups at risk and screening healthy people, as well as monitoring disease recurrence after treatment of cancer. However the complexity of the body's response to the pathological processes makes it virtually impossible to evaluate this response to the development of the disease using a single biomarker that is present in the serum at low concentrations. An alternative approach to standard biomarker analysis is called immunosignature. Instead of going after biomarkers themselves this approach rely on the analysis of the humoral immune response to molecular changes associated with the development of pathological processes. It is known that antibodies are produced in response to proteins expressed during cancer development. Accordingly, the changes in antibody repertoire associated with tumor growth can serve as biomarkers of cancer. Immunosignature is a highly sensitive method for antibody repertoire analysis utilizing high density peptide microarrays. In the present review we discuss modern methods for antibody detection, as well as describe the principles and applications of immunosignature in research and clinical practice.

• Archives of Plastic Surgery
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• v.47 no.4
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• pp.324-332
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• 2020

Background The deep inferior epigastric artery perforator (DIEP) flap is the commonest flap used for breast reconstruction after mastectomy. It is performed as a unilateral (based on one [unipedicled] or two [bipedicled] vascular pedicles) or bilateral procedure following unilateral or bilateral mastectomies. No previous studies have comprehensively analyzed analgesia requirements and hospital stay of these three forms of surgical reconstruction. Methods A 7-year retrospective cohort study (2008-2015) of a single-surgeon's DIEP-patients was conducted. Patient-reported pain scores, patient-controlled morphine requirements and recovery times were compared using non-parametric statistics and multivariable regression. Results The study included 135 participants: unilateral unipedicled (n=84), unilateral bipedicled (n=24) and bilateral unipedicled (n=27). Univariate comparison of the three DIEP types showed a significant difference in 12-hour postoperative morphine requirements (P=0.020); bipedicled unilateral patients used significantly less morphine than unipedicled (unilateral) patients at 12 (P=0.005), 24 (P=0.020), and 48 (P=0.046) hours. Multivariable regression comparing these two groups revealed that both reconstruction type and smoking status were significant predictors for 12-hour postoperative morphine usage (P=0.038 and P=0.049, respectively), but only smoking, remained significant at 24 (P=0.010) and 48 (P=0.010) hours. Bilateral reconstruction patients' mean hospital stay was 2 days longer than either unilateral reconstruction (P<0.001). Conclusions Although all three forms of DIEP flap breast reconstruction had similar postoperative pain measures, a novel finding of our study was that bipedicled DIEP flap harvest might be associated with lower early postoperative morphine requirements. Bilateral and bipedicled procedures in appropriate patients might therefore be undertaken without significantly increased pain/morbidity compared to unilateral unipedicled reconstructions.

• Research in Plant Disease
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• v.22 no.2
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• pp.122-126
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• 2016

In June 2015, an exhibited typical signs and symptoms of brown rot was observed on fruit of Apricot cvs. Modern and Alexander at an incidence of 5% of fruit in Jeonju, Korea. Early symptoms on fruit showed small, circular, light brown spots that eventually destroyed the entire fruit. Small sporodochia appeared on the fruit surface. Fruit susceptibility to brown rot increases during the 1 to 2 weeks period prior to harvest. The conidia were one-celled, hyaline, lemon-shaped, $14.6-18.0{\times}8.5-11{\mu}m$, and borne in branched monilioid chains. Based on the morphological characteristics and phylogenetic analysis of internal transcribed spacer (ITS), the fungus was identified as Monilinia fructicola. A BLAST search revealed that sequences of the fungus shared 100% identity to those of M. fructicola. Pathogenicity of a representative isolate was proved by artificial inoculation, fulfilling Koch's postulates. To our knowledge, this is the first confirmed report on the occurrence of M. fructicola on apricot in Korea.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.14
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• pp.5921-5926
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• 2014

A large proportion of patients with thyroid nodules in China undergo thyroidectomy in order to get confirmatory histology diagnosis. The financial impact of this modality remains to be investigated. To evaluate rationality of performing thyroidectomy without a routine FNA preoperatively from the economic perspective, we conducted a retrospective, observational study of all archival thyroidectomies with records of cost per stay (CPS), cost per day (CPD) and length of stay (LOS) from 2008 to 2013 in the First Affiliated Hospital of Nanjing Medical University. We compared all the parameters between cancer and non-cancer thyroidectomies. We recruited 6, 140 thyroidectomies with valid records of CPS, CPD and LOS in this period. The CPS of cancer thyroidectomy was significantly higher than non-cancer thyroidectomy. The percentage of cancer thyroidectomy increased from 26.5% to 41.6%. The percentage of annual cost of cancer thyroidectomies rose from 30.2% to 45.2%. The LOS for cancer and non-cancer thyroidectomy decreased while the CPD increased in the past six years. The estimated national cost in 2012 for all thyroidectomies would be USD 1.86 billion with USD 1.09 billion for non-cancer thyroidectomies. We have witnessed great improvement in the healthcare for patients with thyroid nodules in China. However, given limited healthcare resources, currently thyroid FNA for more precise preoperative diagnosis may help to curb the rapidly increasing demand in healthcare costs in the future for nodular thyroid disease in China.