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1.
Spine (Phila Pa 1976) ; 48(8): 534-544, 2023 Apr 15.
Article in English | MEDLINE | ID: mdl-36745468

ABSTRACT

STUDY DESIGN: A systematic review of the literature to develop an algorithm formulated by key opinion leaders. OBJECTIVE: This study aimed to analyze currently available data and propose a decision-making algorithm for full-endoscopic lumbar discectomy for treating lumbar disc herniation (LDH) to help surgeons choose the most appropriate approach [transforaminal endoscopic lumbar discectomy (TELD) or interlaminar endoscopic lumbar discectomy (IELD)] for patients. SUMMARY OF BACKGROUND DATA: Full-endoscopic discectomy has gained popularity in recent decades. To our knowledge, an algorithm for choosing the proper surgical approach has never been proposed. MATERIALS AND METHODS: A systematic review of the literature using PubMed and MeSH terms was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Patient samples included patients with LDH treated with full-endoscopic discectomy. The inclusion criteria were interventional research (randomized and nonrandomized trials) and observation research (cohort, case-control, case series). Exclusion criteria were case series and technical reports. The criteria used for selecting patients were grouped and analyzed. Then, an algorithm was generated based on these findings with support and reconfirmation from key expert opinions. Data on overall complications were collected. Outcome measures included zone of herniation, level of herniation, and approach (TELD or IELD). RESULTS: In total, 474 articles met the initial screening criteria. The detailed analysis identified the 80 best-matching articles; after applying the inclusion and exclusion criteria, 53 articles remained for this review. CONCLUSIONS: The proposed algorithm suggests a TELD for LDH located in the foraminal or extraforaminal zones at upper and lower levels and for central and subarticular discs at the upper levels considering the anatomic foraminal features and the craniocaudal pathology location. An IELD is preferred for LDH in the central or subarticular zones at L4/L5 and L5/S1, especially if a high iliac crest or high-grade migration is found.


Subject(s)
Diskectomy, Percutaneous , Intervertebral Disc Displacement , Humans , Lumbar Vertebrae/surgery , Diskectomy , Intervertebral Disc Displacement/surgery , Endoscopy , Treatment Outcome , Retrospective Studies
2.
Neurospine ; 20(4): 1272-1280, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38171294

ABSTRACT

OBJECTIVE: Although adult spinal deformity (ASD) surgery aims to restore and maintain alignment, proximal junctional kyphosis (PJK) may occur. While existing scoring systems predict PJK, they predominantly offer a generalized 3-tier risk classification, limiting their utility for nuanced treatment decisions. This study seeks to establish a personalized risk calculator for PJK, aiming to enhance treatment planning precision. METHODS: Patient data for ASD were sourced from the Korean spinal deformity database. PJK was defined a proximal junctional angle (PJA) of ≥ 20° at the final follow-up, or an increase in PJA of ≥ 10° compared to the preoperative values. Multivariable analysis was performed to identify independent variables. Subsequently, 5 machine learning models were created to predict individualized PJK risk post-ASD surgery. The most efficacious model was deployed as an online and interactive calculator. RESULTS: From a pool of 201 patients, 49 (24.4%) exhibited PJK during the follow-up period. Through multivariable analysis, postoperative PJA, body mass index, and deformity type emerged as independent predictors for PJK. When testing machine learning models using study results and previously reported variables as hyperparameters, the random forest model exhibited the highest accuracy, reaching 83%, with an area under the receiver operating characteristics curve of 0.76. This model has been launched as a freely accessible tool at: (https://snuspine.shinyapps.io/PJKafterASD/). CONCLUSION: An online calculator, founded on the random forest model, has been developed to gauge the risk of PJK following ASD surgery. This may be a useful clinical tool for surgeons, allowing them to better predict PJK probabilities and refine subsequent therapeutic strategies.

4.
World Neurosurg ; 143: e224-e231, 2020 11.
Article in English | MEDLINE | ID: mdl-32712402

ABSTRACT

OBJECTIVE: Hard or calcified discs are often adherent to surrounding nerve tissue. The whole herniated disc is difficult to remove by pulling part of the hernia mass, which makes obtaining good results through endoscopic treatment difficult. The purpose of this study was to describe the details of the transforaminal endoscopic lumbar discectomy technique for a hard or calcified disc and report the clinical results. METHODS: From October 2016 to June 2019, 43 consecutive cases diagnosed as hard or calcified lumbar disc herniation at our institution and treated with transforaminal endoscopic discectomy were evaluated. Endoscopic decompression was performed in patients with hard or calcified lumbar disc herniation. RESULTS: The preoperative visual analog scale score for leg pain (mean ± standard deviation) was 7.09 ± 1.74. The score improved to 2.55 ± 1.35 at 1 week postoperatively, 1.88 ± 1.29 at 4 weeks postoperatively, and 1.58 ± 1.0 at 26 weeks postoperatively (P < 0.01 for all). The preoperative Oswestry Disability Index (mean ± standard deviation) was 55.4 ± 23.04, which improved to 30.89 ± 13.64 at 1 week postoperatively, 23.08 ± 11.64 at 4 weeks postoperatively, and 16.42 ± 9.76 at 26 weeks postoperatively (P < 0.01 for all). Two patients developed a dural laceration. Both patients were discharged after several hours of observation. None of the patients had postoperative infection, epidural hematoma, or delayed neurological deterioration. CONCLUSIONS: Transforaminal endoscopic discectomy could be an effective treatment method for a selected group of patients with hard or calcified lumbar disc herniation.


Subject(s)
Calcinosis/surgery , Diskectomy/methods , Intervertebral Disc Displacement/surgery , Intervertebral Disc/surgery , Calcinosis/diagnostic imaging , Endoscopy , Female , Humans , Intervertebral Disc/diagnostic imaging , Intervertebral Disc Displacement/diagnostic imaging , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed
5.
Cell ; 178(5): 1159-1175.e17, 2019 08 22.
Article in English | MEDLINE | ID: mdl-31442405

ABSTRACT

Expansion of CAG trinucleotide repeats in ATXN1 causes spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease that impairs coordination and cognition. While ATXN1 is associated with increased Alzheimer's disease (AD) risk, CAG repeat number in AD patients is not changed. Here, we investigated the consequences of ataxin-1 loss of function and discovered that knockout of Atxn1 reduced CIC-ETV4/5-mediated inhibition of Bace1 transcription, leading to increased BACE1 levels and enhanced amyloidogenic cleavage of APP, selectively in AD-vulnerable brain regions. Elevated BACE1 expression exacerbated Aß deposition and gliosis in AD mouse models and impaired hippocampal neurogenesis and olfactory axonal targeting. In SCA1 mice, polyglutamine-expanded mutant ataxin-1 led to the increase of BACE1 post-transcriptionally, both in cerebrum and cerebellum, and caused axonal-targeting deficit and neurodegeneration in the hippocampal CA2 region. These findings suggest that loss of ataxin-1 elevates BACE1 expression and Aß pathology, rendering it a potential contributor to AD risk and pathogenesis.


Subject(s)
Alzheimer Disease/pathology , Amyloid Precursor Protein Secretases/metabolism , Ataxin-1/metabolism , Brain/metabolism , Alzheimer Disease/metabolism , Amyloid Precursor Protein Secretases/genetics , Amyloid beta-Protein Precursor/metabolism , Animals , Ataxin-1/deficiency , Ataxin-1/genetics , Brain/pathology , CA2 Region, Hippocampal/metabolism , CA2 Region, Hippocampal/pathology , DNA-Binding Proteins/genetics , DNA-Binding Proteins/metabolism , Disease Models, Animal , Female , Gene Frequency , Humans , Male , Mice , Mice, Transgenic , Neurogenesis , Proto-Oncogene Proteins c-ets/genetics , Proto-Oncogene Proteins c-ets/metabolism , Transcription Factors/genetics , Transcription Factors/metabolism , Transcription, Genetic , Trinucleotide Repeats/genetics , Up-Regulation
6.
J Environ Manage ; 217: 373-380, 2018 Jul 01.
Article in English | MEDLINE | ID: mdl-29625406

ABSTRACT

Ventilation air methane (VAM), which is the main source of greenhouse gas emissions from coal mines, has been a great challenge to deal with due to its huge flow rates and dilute methane levels (typically 0.3-1.0 vol%) with almost 100% humidity. As part of our continuous endeavor to further improve the methane adsorption capacity of carbon composites, this paper presents new carbon composites derived from macadamia nut shells (MNSs) and incorporated with carbon nanotubes (CNTs). These new carbon composites were fabricated in a honeycomb monolithic structure to tolerate dusty environment and to minimize pressure drop. This paper demonstrates the importance of biomass particle size distributions when formed in a composite and methane adsorption capacities at low pressures relevant to VAM levels. The selectivity of methane over nitrogen was about 10.4 at each relevant partial pressure, which was much greater than that (6.5) obtained conventionally (at very low pressures), suggesting that capturing methane in the presence of pre-adsorbed nitrogen would be a practical option. The equilibrium and dynamic performance of biomass-derived carbon composites were enhanced by 30 and 84%, respectively, compared to those of our previous carbon fiber composites. In addition, the presence of moisture in ventilation air resulted in a negligible effect on the dynamic VAM capture performance of the carbon composites, suggesting that our carbon composites have a great potential for site applications at coal mines because the cost and performance of solid adsorbents are critical factors to consider.


Subject(s)
Coal , Methane , Nanotubes, Carbon , Biomass , Mining , Ventilation
7.
World Neurosurg ; 114: e873-e882, 2018 Jun.
Article in English | MEDLINE | ID: mdl-29581017

ABSTRACT

OBJECTIVE: Transforaminal endoscopic treatment has been reported to be an effective treatment option in patients with lumbar disc herniation. However, it is rarely performed for spinal stenosis because of the limitation of endoscopic working mobility caused by the exiting nerve root and foraminous bony structure. The objective of this study was to describe a novel transforaminal endoscopic decompression technique for spinal stenosis and report the clinical results. METHODS: From October 2015 to October 2016, 30 consecutive cases were diagnosed as lateral recess stenosis in our institution and underwent transforaminal endoscopic decompression. Visual analog scale (VAS) of back and leg pain and the Oswestry Disability Index (ODI) were measured preoperatively and at follow-up. RESULTS: The mean ± SD value of preoperative VAS leg pain score was 7.6 ± 1.17. The score improved to 2.2 ± 1.11 at 1 week postoperatively, 1.73 ± 0.96 at 4 weeks postoperatively, and 1.63 ± 0.95 at 26 weeks postoperatively (P < 0.01). The mean ± SD value of the preoperative ODI score was 65.69 ± 14.22. The score improved to 24.29 ± 11.89 at 1 week postoperatively, 21.25 ± 9.25 at 4 weeks postoperatively, and 15.62 ± 10.49 at 26 weeks postoperatively (P < 0.01). There were no patients with postoperative infection, dural tear, delayed neurologic deterioration, or conversion to open surgery. CONCLUSIONS: Transforaminal endoscopic decompression under local anesthesia could be an effective treatment method for the selected group of patients with spinal stenosis.


Subject(s)
Decompression, Surgical/methods , Lumbar Vertebrae/surgery , Neuroendoscopy/methods , Spinal Stenosis/surgery , Female , Humans , Lumbar Vertebrae/diagnostic imaging , Male , Spinal Stenosis/diagnostic imaging , Treatment Outcome
8.
Int J Spine Surg ; 10: 18, 2016.
Article in English | MEDLINE | ID: mdl-27441176

ABSTRACT

BACKGROUND: Obese patients are at risk of complications such as slower wound healing and increased infection rates after spinal surgery. Transforaminal full-endoscopic lumbar discectomy (ELD) has advantages over conventional microdiscectomy because it decreases perioperative complications and increases favorable clinical outcomes. No clinical studies have reported ELD in obese patients. The purpose of this study is to evaluate the clinical outcomes of transforaminal ELD in obese patients. METHODS: Obesity is defined as a body mass index (BMI) of more than 30 kg/m2. Our study included 21 obese patients and 27 normal BMI patients treated by posterolateral transforaminal ELD for radiating pain caused by a single-level lumbar disc herniation with more than 2 years of follow-up. Clinical chart reviews and telephone surveys were conducted. Clinical and functional outcomes using VAS and ODI, perioperative complications, and reherniation were evaluated. RESULTS: Overall clinical and functional outcomes were improved during postoperative follow-up evaluation. There were no immediate perioperative complications, such as infection or durotomy in both groups. In obese group, three patients had late reherniations. Of these, 2 patients had tolerable pain and showed good recovery with conservative treatment; 1 patient who had undergone ELD for recurrent disc herniation underwent open microdiscectomy. In control group, two patients had early reherniation and underwent open microdiscectomy and one patient with late reherniation showed good recovery with conservative treatment. CONCLUSION: In select cases, ELD is an effective, safe, and minimally invasive technique for obese patients. It decreases perioperative morbidity and allows for both early mobilization and early return to work. LEVEL OF EVIDENCE: level 3b.

9.
Am J Hum Genet ; 98(6): 1243-1248, 2016 06 02.
Article in English | MEDLINE | ID: mdl-27236923

ABSTRACT

Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-ß) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-ß. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define "XLR SEMD, BGN type" as a nosologic entity.


Subject(s)
Biglycan/genetics , Genetic Diseases, X-Linked/genetics , Mutation/genetics , Osteochondrodysplasias/genetics , Adult , Aged , Amino Acid Sequence , Biglycan/chemistry , Biglycan/metabolism , Child , Child, Preschool , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Pedigree , Protein Binding , Protein Conformation , Sequence Homology, Amino Acid , Transforming Growth Factor beta/chemistry , Transforming Growth Factor beta/genetics , Transforming Growth Factor beta/metabolism
10.
Korean J Physiol Pharmacol ; 20(1): 35-9, 2016 Jan.
Article in English | MEDLINE | ID: mdl-26807021

ABSTRACT

To conduct a kinetic study of paraquat (PQ), we investigated 9 patients with acute PQ intoxication. All of them ingested more than 20 ml of undiluted PQ herbicide to commit suicide and arrived at our hospital early, not later than 7 h after PQ ingestion. The urine dithionite test for PQ in all of the nine patients was strongly positive at emergency room. Blood samples were obtained every 30 min for the first 2~3 h and then every 1 or 2 h, as long as the clinical progression was stable among the patients for 30 h after PQ ingestion. The area under the plasma concentration-time curve (AUCinf), which was extrapolated to infinity, was calculated using the trapezoidal rule. Toxicokinetic parameters, such as the terminal elimination half-life, apparent oral clearance, and apparent volume of distribution (Vd/F) were calculated. The maximum PQ concentration (Cmax) and the time to reach maximum PQ concentration (Tmax) were also obtained. Plasma PQ concentrations in nine patients were well described by a bi-exponential curve with a mean terminal elimination half-life of 13.1±6.8 h. Cmax and AUCinf were 20.8±25.7 mg/l and 172.5±160.3 h·mg/l, respectively. Apparent volume of distribution and apparent oral clearance were 50.9±61.3 l/kg and 173.4±111.2 l/h, respectively. There were a significant correlation (r =0.84; p<0.05) between the PQ amount ingested and Cmax. AUCinf also showed a significant correlation (r =0.83; p<0.05) with the PQ amount ingested. These correlations provide evidence that PQ has dose-linear toxicokinetic characteristics.

11.
Genet Med ; 18(6): 563-9, 2016 06.
Article in English | MEDLINE | ID: mdl-26402641

ABSTRACT

PURPOSE: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia. METHODS: A total of 185 patients either diagnosed with or suspected to have skeletal dysplasia were recruited over a period of 3 years. TES was performed for 255 genes associated with the pathogenesis of skeletal dysplasia, and candidate variants were selected using a bioinformatics analysis. All candidate variants were confirmed by Sanger sequencing, correlation with the phenotype, and a cosegregation study in the family. RESULTS: TES detected "confirmed" or "highly likely" pathogenic sequence variants in 74% (71 of 96) of cases in the assured clinical diagnosis category and 20.3% (13 of 64 cases) of cases in the uncertain clinical diagnosis category. TES successfully detected pathogenic variants in all 25 cases of previously known genotypes. The data also suggested a copy-number variation that led to a molecular diagnosis. CONCLUSION: This study demonstrates the feasibility of TES for the molecular diagnosis of skeletal dysplasia. However, further confirmation is needed for a final molecular diagnosis, including Sanger sequencing of candidate variants with suspected, poorly captured exons.Genet Med 18 6, 563-569.


Subject(s)
Exome Sequencing/methods , Musculoskeletal Abnormalities/diagnosis , Musculoskeletal Abnormalities/genetics , Pathology, Molecular , DNA Copy Number Variations/genetics , Exons/genetics , Female , Humans , Male , Musculoskeletal Abnormalities/physiopathology , Mutation , Pedigree , Phenotype
12.
Int J Clin Exp Med ; 8(8): 12135-48, 2015.
Article in English | MEDLINE | ID: mdl-26550124

ABSTRACT

OBJECTIVE: Microdiscectomy (MD) is the gold standard for surgical discectomy. As a minimally invasive discectomy, automated open lumbar discectomy (AOLD) is designed to preserve annular integrity and disc height as well as effectively remove herniated disc and degenerated disc material. However, there have been no prospective clinical studies comparing their effectiveness. The study was designed to compare clinical and radiological outcomes after AOLD with those of MD. METHODS: Seventy-eight patients were evaluated for unilateral leg pain with the presence of disc herniation on magnetic resonance imaging (MRI) scans at a single attributable level. Sixty-two patients were enrolled; 33 patients (53%) were randomly assigned to the AOLD group and the remaining 29 patients (47%) were assigned to the MD group. Follow-up assessment was performed for 19 of the AOLD patients and 17 of the MD patients. The average follow-up period was 20 months. Clinical and functional outcomes were assessed using VAS and ODI scores. Change of disc height (DH), instability, and disc degeneration were assessed from radiographs, while Modic change and reherniation were assessed using MRI scans. RESULTS: Postoperative VAS scores for leg pain and ODI scores for function were significantly improved in both groups. Postoperative VAS for back pain tended to decrease in the MD group but the decrease was statistically insignificant (P = 0.081). The postoperative VAS for back pain was significantly reduced in the AOLD group (P = 0.012). Patients from the MD group showed greater DH reduction than the AOLD group (P = 0.049). The MD group experienced greater disc degeneration and Modic change than the AOLD group. Follow-up MRI revealed 2 cases of reherniation in the AOLD group; 1 case was symptomatic, the other was asymptomatic. CONCLUSIONS: AOLD showed comparable clinical and radiological outcomes to conventional MD. AOLD preserves the central disc and removes only the loose degenerative disc fragments that are the main cause of reherniation by small annulotomy. Our results suggest that preservation of the central disc prevents loss of disc height and segmental instability, which is related to postdiscectomy back pain.

13.
PLoS One ; 10(9): e0138368, 2015.
Article in English | MEDLINE | ID: mdl-26375462

ABSTRACT

Sodium bicarbonate cotransporters (NBCs) are involved in the pH regulation of salivary glands. However, the roles and regulatory mechanisms among different NBC isotypes have not been rigorously evaluated. We investigated the roles of two different types of NBCs, electroneutral (NBCn1) and electrogenic NBC (NBCe1), with respect to pH regulation and regulatory mechanisms using human submandibular glands (hSMGs) and HSG cells. Intracellular pH (pHi) was measured and the pHi recovery rate from cell acidification induced by an NH4Cl pulse was recorded. Subcellular localization and protein phosphorylation were determined using immunohistochemistry and co-immunoprecipitation techniques. We determined that NBCn1 is expressed on the basolateral side of acinar cells and the apical side of duct cells, while NBCe1 is exclusively expressed on the apical membrane of duct cells. The pHi recovery rate in hSMG acinar cells, which only express NBCn1, was not affected by pre-incubation with 5 µM PP2, an Src tyrosine kinase inhibitor. However, in HSG cells, which express both NBCe1 and NBCn1, the pHi recovery rate was inhibited by PP2. The apparent difference in regulatory mechanisms for NBCn1 and NBCe1 was evaluated by artificial overexpression of NBCn1 or NBCe1 in HSG cells, which revealed that the pHi recovery rate was only inhibited by PP2 in cells overexpressing NBCe1. Furthermore, only NBCe1 was significantly phosphorylated and translocated by NH4Cl, which was inhibited by PP2. Our results suggest that both NBCn1 and NBCe1 play a role in pHi regulation in hSMG acinar cells, and also that Src kinase does not regulate the activity of NBCn1.


Subject(s)
Gene Expression Regulation, Neoplastic , Mouth Neoplasms/metabolism , Sodium-Bicarbonate Symporters/metabolism , Submandibular Gland/metabolism , Bicarbonates/metabolism , Cell Membrane/metabolism , Cells, Cultured , Cytoplasm/metabolism , Fluorescent Antibody Technique , Humans , Hydrogen-Ion Concentration , Immunoenzyme Techniques , Immunoprecipitation , Mouth Neoplasms/pathology , Phosphorylation , RNA, Messenger/genetics , Real-Time Polymerase Chain Reaction , Reverse Transcriptase Polymerase Chain Reaction , Sodium-Bicarbonate Symporters/genetics , Submandibular Gland/pathology , Tyrosine/metabolism
14.
Am J Med Genet A ; 167A(5): 1033-8, 2015 May.
Article in English | MEDLINE | ID: mdl-25728306

ABSTRACT

Chromosomal translocation of 2q37.1 just distal to the NPPC gene coding for C-type natriuretic peptide (CNP) and subsequent overproduction of CNP have been reported to cause a skeletal overgrowth syndrome. Loeys-Dietz syndrome (LDS) is one of marfanoid overgrowth syndromes, of which subtype IV is caused by haploinsufficiency of transforming growth factor beta 2 (TGFB2). We report on a girl with clinical phenotypes of overgrowth syndrome, including long and slim body habitus, macrodactyly of the big toe, scoliosis, ankle valgus deformity, coxa valga, slipped capital femoral epiphysis, and aortic root dilatation. Karyotyping revealed a balanced chromosomal translocation between 1q41 and 2q37.1, and the breakpoints could be mapped by targeted resequencing analysis. On chromosome 2q37.1, the translocation took place 200,365 bp downstream of NPPC, and serum level of the amino terminal of CNP was elevated. The contralateral site of translocation on chromosome 1q41 disrupted TGFB2 gene, presumed to cause its haploinsufficiency. This case supports the concept that NPPC is overexpressed because of the loss of a specific negative regulatory control in the normal chromosomal location, and demonstrates the effectiveness of targeted resequencing in the mapping of breakpoints.


Subject(s)
Loeys-Dietz Syndrome/genetics , Natriuretic Peptide, C-Type/biosynthesis , Translocation, Genetic/genetics , Adolescent , Chromosomes, Human, Pair 1/genetics , Chromosomes, Human, Pair 2/genetics , Female , Gene Expression Regulation , Haploinsufficiency , Humans , Karyotyping , Loeys-Dietz Syndrome/physiopathology , Natriuretic Peptide, C-Type/blood , Natriuretic Peptide, C-Type/genetics , Phenotype , Transforming Growth Factor beta2/genetics
15.
Pediatr Nephrol ; 30(9): 1451-8, 2015 Sep.
Article in English | MEDLINE | ID: mdl-25726036

ABSTRACT

BACKGROUND: Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex. Herein, we describe six additional cases accompanied by Caroli syndrome or disease. METHODS: Targeted exome sequencing covering 96 ciliopathy-related genes was performed for 48 unrelated Korean patients with a clinical suspicion of NPHP. Mutations were confirmed by Sanger sequencing. We evaluated the expression of WDR19 in the biopsied kidney by immunohistochemistry in patients and controls. RESULTS: We detected three (3/48, 6.3 %) unrelated index cases with WDR19 mutations. One of the cases involved two siblings with the same mutation. Later, we detected an additional index case with a similar phenotype of kidney and liver involvement by Sanger sequencing of WDR19. The p.R1178Q mutation was common in all patients. All of the six affected patients from four families progressed to chronic kidney disease. Of note, all six patients had Caroli syndrome or disease. Immunohistochemistry for WDR19 showed localized expression along the luminal borders of the renal tubular epithelium in controls, whereas it showed diffuse cytoplasmic staining in the affected patients. CONCLUSIONS: Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. In this study, we visually validated the expression pattern of mutant WDR19 protein in the kidneys of NPHP 13 patients. More data are needed to identify the true frequency of p.R1178Q. Functional studies including transfection assay will provide solid grounds for the pathogenicity of each mutation.


Subject(s)
Caroli Disease , Kidney/pathology , Polycystic Kidney, Autosomal Recessive , Proteins/genetics , Adolescent , Caroli Disease/diagnosis , Caroli Disease/genetics , Child , Cytoskeletal Proteins , Female , Humans , Intracellular Signaling Peptides and Proteins , Male , Mutation , Polycystic Kidney, Autosomal Recessive/diagnosis , Polycystic Kidney, Autosomal Recessive/genetics , Repetitive Sequences, Amino Acid/genetics , Republic of Korea , Young Adult
16.
Spine (Phila Pa 1976) ; 40(6): E349-58, 2015 Mar 15.
Article in English | MEDLINE | ID: mdl-25774467

ABSTRACT

STUDY DESIGN: Retrospective clinical study. OBJECTIVE: To evaluate the effect of the limitation of flexion rotation clinically and radiologically after interspinous soft stabilization using a tension band system in grade 1 degenerative spondylolisthesis. SUMMARY OF BACKGROUND DATA: Although several studies have been published on the clinical effects of limiting rotatory motion using tension band systems, which mainly targets the limitation of flexion rather than that of extension, they were confined to the category of pedicle screw-based systems, revealing inconsistent long-term outcomes. METHODS: Sixty-one patients with a mean age of 60.6 years (range, 28-76 yr) who underwent interspinous soft stabilization after decompression for grade 1 degenerative spondylolisthesis with stenosis between 2002 and 2004 were analyzed. At follow-up, the patients were divided into 2 groups on the basis of their achievement or failure to achieve flexion limitation. The clinical and radiological findings were analyzed. A multiple linear regression analysis was performed to determine the prognostic factors for surgical outcomes. RESULTS: At a mean follow-up duration of 72.5 months (range, 61-82 mo), 51 patients were classified into the flexion-limited group and 10 into the flexion-unlimited group. Statistically significant improvements were noted only in the flexion-limited group in all clinical scores. In the flexion-unlimited group, there were significant deteriorations in flexion angle (P = 0.009), axial thickness of the ligamentum flavum (P = 0.013), and the foraminal cross-sectional area (P = 0.011), resulting in significant intergroup differences. The preoperative extension angle was identified as the most influential variable for the flexion limitation and the clinical outcomes. CONCLUSION: The effects of the limitation of flexion rotation achieved through interspinous soft stabilization using a tension band system after decompression were related to the prevention of late recurrent stenosis and resultant radicular pain caused by flexion instability. The extension potential at the index level was recognized as a major prognostic factor that can predict the flexion limitation and the clinical results. LEVEL OF EVIDENCE: 4.


Subject(s)
Orthopedic Procedures/methods , Spondylolisthesis/physiopathology , Spondylolisthesis/surgery , Aged , Back Pain/physiopathology , Female , Humans , Male , Middle Aged , Orthopedic Procedures/adverse effects , Postoperative Complications , Radiography , Range of Motion, Articular/physiology , Reoperation , Retrospective Studies , Spondylolisthesis/diagnostic imaging , Treatment Outcome
17.
Pediatr Int ; 57(3): 431-8, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25443527

ABSTRACT

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease with a genetic predisposition. Few studies have evaluated the disease in the Asian population. We studied a Korean pediatric cohort to delineate the clinical characteristics and genotypes. METHODS: A multicenter cohort of 51 Korean children with aHUS was screened for mutations using targeted exome sequencing covering 46 complement related genes. Anti-complement-factor-H autoantibody (anti-CFH) titers were measured. Multiplex ligation-dependent probe amplification assay was performed to detect deletions in the complement factor-H related protein genes (CFHR) in the patients as well as in 100 healthy Korean controls. We grouped the patients according to etiology and compared the clinical features using Mann-Whitney U-test and chi-squared test. RESULTS: Fifteen patients (group A, 29.7%) had anti-CFH, and mutations were detected in 11 (group B, 21.6%), including one with combined mutations. The remaining 25 (group C, 49.0%) were negative for both. The prevalence of anti-CFH was higher than the worldwide level. Group A had a higher onset age than group B, although the difference was not significant. Group B had the worst renal outcome. Gene frequencies of homozygous CFHR1 deletion were 73.3%, 2.7% and 1% in group A, group B + C and the control, respectively. CONCLUSIONS: The incidence of anti-CFH in the present Korean aHUS cohort was high. Clinical outcomes largely conformed to the previous reports. Although the sample size was limited, this cohort provides a reassessment of clinicogenetic features of aHUS in Korean children.


Subject(s)
Atypical Hemolytic Uremic Syndrome/epidemiology , Autoantibodies/immunology , Complement Factor H/genetics , Genetic Predisposition to Disease , Mutation , Atypical Hemolytic Uremic Syndrome/genetics , Atypical Hemolytic Uremic Syndrome/immunology , Child , Child, Preschool , Complement Factor H/metabolism , Female , Gene Frequency , Humans , Incidence , Infant , Male , Multiplex Polymerase Chain Reaction , Republic of Korea/epidemiology
18.
Environ Sci Technol ; 48(10): 6043-9, 2014 May 20.
Article in English | MEDLINE | ID: mdl-24787090

ABSTRACT

Treatment of ventilation air methane (VAM) with cost-effective technologies has been an ongoing challenge due to its high volumetric flow rate with low and variable methane concentrations. In this work, honeycomb monolithic carbon fiber composites were developed and employed to capture VAM with a large-scale test unit at various conditions such as VAM concentration, ventilation air (VA) flow rate, temperature, and purging fluids. Regardless of inlet VAM concentrations, methane was captured at almost 100%. To regenerate the composites, the initial vacuum swing followed by combined temperature and vacuum swing adsorption (TVSA) was applied. It was found that initial vacuum swing is a control step for the final methane concentration having 5 or 11 times the VAM enrichment by one-step adsorption, which is, to our knowledge, the best performance achieved in VAM enrichment technologies worldwide. Five-time enriched VAM can be utilized as a principle fuel for lean burn turbine. Also, it can be further enriched by second step adsorption to more than 25% which then can be used for commercially available gas engines. In this way, the final product can be out of the methane explosive range (5-15%).


Subject(s)
Air , Carbon/chemistry , Methane/analysis , Ventilation , Adsorption , Carbon Dioxide/chemistry , Carbon Fiber , Nitrogen/chemistry , Porosity , Rheology , Temperature , Vacuum
19.
Biochem Biophys Res Commun ; 437(1): 18-22, 2013 Jul 19.
Article in English | MEDLINE | ID: mdl-23769829

ABSTRACT

Expression of inositol-1,4,5-trisphosphate (IP3) receptor-binding protein (IRBIT) has been reported in epithelial cells. However, its role in pHi regulation is not well understood. In this study, we investigated the role of IRBIT in pHi regulation, mediated by Na(+)/H(+) exchangers (NHEs), in salivary glands. We measured pHi recovery from cell acidification in BCECF-loaded salivary HSG cells. Western blot and co-immunoprecipitation (CO-IP) assays were also performed, showing that NHE1, 2 and 3 are expressed, and IRBIT binds to NHE3. HOE642, a specific NHE1 blocker, inhibited pHi recovery, but 40% pH(i) recovery was still observed even at the highest concentration of HOE642. Furthermore, pretreatment of the cells with siIRBIT significantly inhibited pHi recovery, indicating that NHE3 potentially plays a role in pHi recovery as well. The amount of membrane-localized NHE3 and its interaction with IRBIT are also significantly increased by cell acidification. In addition, we found that Ste20p-related proline alanine-rich kinase (SPAK) reverses the effect of IRBIT on membrane NHE3 translocation. Taken together, we conclude that IRBIT plays an important role in pHi regulation, mediated by NHE3, and further regulated by SPAK.


Subject(s)
Intracellular Space/metabolism , Lectins, C-Type/metabolism , Membrane Proteins/metabolism , Salivary Glands/cytology , Sodium-Hydrogen Exchangers/metabolism , Cation Transport Proteins/metabolism , Cell Line , Humans , Hydrogen-Ion Concentration , Protein Binding , Protein Serine-Threonine Kinases/metabolism , Protein Transport , Sodium-Hydrogen Exchanger 1 , Sodium-Hydrogen Exchanger 3
20.
Korean J Anesthesiol ; 64(4): 321-6, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23646241

ABSTRACT

BACKGROUND: We compared clinical properties and patient satisfaction between spinal anesthesia and popliteal sciatic nerve block (PSNB) for hallux valgus surgery. METHODS: Forty patients undergoing hallux valgus surgery were divided into spinal group (spinal anesthesia with 2.5 ml of 0.5% bupivacaine [n = 20]) and PSNB group (PSNB with 30 ml of 0.75% ropivacaine mixed with 10 ml of normal saline solution using a nerve stimulator [n = 20]). The PSNB group used a patient-controlled-analgesia (PCA) pump for postoperative pain control. The quality and side effects were compared between the two groups. A questionnaire was used to evaluate patient satisfaction with the use of anesthetic techniques and postoperative pain control in the PSNB group. This study was assessed 3 days postoperatively by a blinded observer. RESULTS: Procedure time and time from anesthesia until start of sugery were significantly shorter in the spinal group than those in the PSNB group (P < 0.01). Anesthesia-related complications such as hypotension, bradycardia, shivering, nausea/vomitting, post-dural puncture headache (PDPH) and urinary retension were observed in 15%, 10%, 5%, 5%, 10%, and 20% of patients in the spinal group, respectively. PSNB was not associated with these complications. Patient satisfaction was slightly higher for PSNB than for spinal anesthesia. In the PSNB group, patient satisfaction with postoperative pain-control was 95% above ordinary satisfaction. CONCLUSIONS: Despite the long duration of the procedure, PSNB is relatively safe, provides an adequate level of anesthesia, effectively controls postoperative pain and reduces side effects. Therefore, PSNB could be a potential anesthetic technique for hallux valgus surgery.

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