Succinylcholine (Sch) has long been used to facilitate laryngoscopy and endotracheal intubation for general anesthesia, because of a rapid onset of intense but brief paralysis. However, exaggerated potassium (K+) release following Sch, sufficient to cause ventricular dysrhythmias and cardiac arrest, has sporadically been reported in susceptible conditions, including spinal cord injury, severe burn, massive trauma and neuromuscular disorder. And diazepam has been shown to attenuate the increase in serum K+ following Sch administration. The purpose of this study was to assess the effect of Sch on serum K+ in patients with spinal cord lesions, and to assess the effect of pretreatment with diazepam (0.05 mg/kg IV) on potassium flux. The results were as follows: 1) Baseline K+ values were not significantly different among the groups. 2) The time to peak increases in K+ was 3 minutes following Sch in all groups. 3) The magnitude of maximum increases in K' following Sch were 0.32 Eq/l, 0.63 mEq/l, 0.06 mEq/I and 1,10 mEq/I in group 1, group 2A, group 2B, and group 3, respectively. 4) Diazepam pretreatment attenuated the increases in K+ following Sch. From the above results, it can be concluded that Sch may safely be used to facilitate intubation in paraplegic patients, provided that they are normokalemic and pretreated with diazepam.
Anesthesia, General ; Burns ; Diazepam ; Heart Arrest ; Humans ; Hypnotics and Sedatives ; Intubation ; Intubation, Intratracheal ; Laryngoscopy ; Paralysis ; Potassium* ; Spinal Cord Injuries ; Spinal Cord* ; Succinylcholine*

Severe sepsis and septic shock are the main causes of death in critically ill patients. Early detection and appropriate treatment according to guidelines are crucial for achieving favorable outcomes. Endotoxin is considered to be a main element in the pathogenic induction of gram-negative bacterial sepsis. Polymyxin B hemoperfusion can remove endotoxin and is reported to improve clinical outcomes in patients with intra-abdominal septic shock, but its clinical efficacy for pneumonic septic shock remains unclear. Here, we report a case of a 51-year-old man with pneumonic septic shock caused by Pseudomonas aeruginosa, who recovered through polymyxin B hemoperfusion.
Cause of Death ; Critical Illness ; Gram-Negative Bacteria* ; Hemoperfusion* ; Humans ; Middle Aged ; Polymyxin B* ; Polymyxins* ; Pseudomonas aeruginosa ; Sepsis ; Shock, Septic*

BACKGROUND: Automated blood cell analyzers often read leukemic blasts as normal cells. In this study, we evaluated the 5-part differential patterns of blasts using automated analyzers to determine if they can differentiate among blast types. METHODS: Blood samples containing 10% or more blasts were collected from patients with acute leukemia (N=175). The 5-part differential count was conducted using DxH 800 (Beckman Coulter, USA) and XE-2100 analyzers (Sysmex Co., Japan), and the results were compared with manual differential counts, which was used as a reference method. RESULTS: The DxH 800 reported the 5-part white blood cell differential count in 98.9% of the cases. The XE-2100 provided an invalid automated differential count in 72% of the cases. Both analyzers counted most lymphoblasts as lymphocytes and most myeloblasts as monocytes. In 11 cases, the DxH 800 reported a 5-part differential count without a blast flag. CONCLUSIONS: Some automated analyzers are able to recognize and count blasts according to their characteristic cell types. Therefore, complete blood counts obtained automatically can provide valuable data for making provisional decisions regarding the lineage of leukemia cells before further investigation.
Acute Disease ; Automation ; Blood Cell Count/*instrumentation/methods ; Humans ; Leukemia/blood/*diagnosis ; Leukemia, Monocytic, Acute/blood/diagnosis ; Leukemia, Myeloid, Acute/blood/diagnosis ; Leukemia, Promyelocytic, Acute/blood/diagnosis ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/blood/diagnosis

Laryngeal schwannoma is extremely rare. We report the CT and MRI findings of a case occurring in a 65-year-oldwoman, and describe the pathologic correlation. Pre-contrast CT scanning revealed a right supraglot-tic mass witha slightly hyperdense central part and a hypodense peripheral part. Post-contrast CT scanning re-vealed anenhanced hyperdense central part and a rim-like hypodense peripheral part. The density of the pe-ripheral part waslower than that of muscle. The mass showed homogeneous low signal intensity on T1-weighted MR images, homogeneoushigh signal intensity on T2-weighted MR images, and an enhanced high signal intensity central part and a lowsignal intensity peripheral part on gadolinium enhanced T1-weighted images. The enhanced central part correlatedwith Antoni A areas and the peripheral part, showing low attenuation, correlated with Antoni B areas.
Gadolinium ; Magnetic Resonance Imaging ; Neurilemmoma* ; Tomography, X-Ray Computed

Intramedullary screw fixation and bicortical screw fixation are widely used operation methods in the surgical treatment of Jones fractures. The purpose of this study is to evaluate of mechnical stability in two kind of Jones fracture. Using Mimics, three-dimensional models of the fifth metatarsal were reconstructed form computed tomography images of a 23-year-old Korean healthy male. Normal and osteoporotic bone models were made by changing bone density or thickness of cortical and cancellous bone. Two kinds of fixation techniques, i.e., intramedullary and bicortical screw fixation models, were simulated and muscles forces related to the fifth metatarsal base were applied. Maximum contact pressure difference were measured as 20,818 MPa, 12,155 MPa in normal bone, 23,371 MPa, 13,765 MPa in 85% cancellous osteoporotic bone, 24,310 MPa and 14,264 MPa in 75% cancellos osteoporotic model, 21,337 MPa, 20,971 MPa in -0.5 mm cortical osteoporotic bone, 26,322 MPa and 36,153 MPa in -1 mm cortical osteoporotic model, respectively for intramedullary screw fixation and bicortical screw fixation. Displacements on fracture interface were 0.208 mm, 0.126 mm in normal bone while 0.229 mm, 0.127 mm in 85% cancellos osteoporotic model, 0.241 mm, 0.127 mm in 75% cancellos osteoporotic model, 0.223 mm, 0.271 mm in -0.5 mm cortical osteoporotic model, 0.292 mm, 0.480 mm in -1 mm cortical osteoporotic model, respectively for intramedullary screw fixation and bicortical screw fixation. Bicortical screw fixation is superior in mechanical stability than intramedullary screw fixation for normal bone quality Jones fractures. For cortical osteoporotic bone Jones fractures, however, intramedullary screw fixation can give a better mechanical stability than bicortical screw fixation.
Bone Density ; Finite Element Analysis* ; Fracture Fixation ; Humans ; Male ; Metatarsal Bones ; Muscles ; Young Adult

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

PURPOSE: Duchenne/Becker muscular dystrophy(DMD/BMD) is an X-linked recessive disorder caused by mutations of dystrophin genes. The purpose of the present study is to determine the frequency and the patterns of dystrophin gene deletions and to investigate the correlation of genotypes and phenotypes. METHODS: There were included a total of 89 children(88 boys and 1 girl) diagnosed as DMD/BMD by immunohistochemistry and/or genetic analysis from 1999 to 2003 at Seoul National University Children's Hospital. We analyzed the genomic DNA by multiplex PCR using a 26 dystrophin exon primer set. Direct sequencing was performed on 23 exons(in which point mutations were detected in other previous reports) in 22 patients without deletions. Phenotype and genotype relationship analysis was performed on the basis of retrospective clinical reviews. RESULTS: The frequency of dysmorphin gene deletions was 54%(32/59), which is lower than that of European and American data. Exon deletions were detected in 59 cases and the deletion "hot spots" were exon 44-54 constituting 80% of all deletions. In 6 cases without detectable deletions, 6 point mutaions(3 nonsense mutations and 3 nucleotide variants) were detected. The patients whose deletions were in the central parts or the patients with multiple exon deletions tended to show earlier symptom onsets and more rapid progressions of weakness but there were no statistical significances. CONCLUSION: Since deletions in dystrophin genes were detected in about 50% of the patients, studies on dystrophin protein expressions using muscle biopsy samples must be done for correct diagnosis.
Biopsy ; Codon, Nonsense ; Diagnosis ; DNA ; Dystrophin* ; Exons ; Gene Deletion ; Genotype ; Humans ; Immunohistochemistry ; Molecular Biology* ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophies* ; Phenotype ; Point Mutation ; Retrospective Studies ; Seoul

PURPOSE: Duchenne/Becker muscular dystrophy(DMD/BMD) is an X-linked recessive disorder caused by mutations of dystrophin genes. The purpose of the present study is to determine the frequency and the patterns of dystrophin gene deletions and to investigate the correlation of genotypes and phenotypes. METHODS: There were included a total of 89 children(88 boys and 1 girl) diagnosed as DMD/BMD by immunohistochemistry and/or genetic analysis from 1999 to 2003 at Seoul National University Children's Hospital. We analyzed the genomic DNA by multiplex PCR using a 26 dystrophin exon primer set. Direct sequencing was performed on 23 exons(in which point mutations were detected in other previous reports) in 22 patients without deletions. Phenotype and genotype relationship analysis was performed on the basis of retrospective clinical reviews. RESULTS: The frequency of dysmorphin gene deletions was 54%(32/59), which is lower than that of European and American data. Exon deletions were detected in 59 cases and the deletion "hot spots" were exon 44-54 constituting 80% of all deletions. In 6 cases without detectable deletions, 6 point mutaions(3 nonsense mutations and 3 nucleotide variants) were detected. The patients whose deletions were in the central parts or the patients with multiple exon deletions tended to show earlier symptom onsets and more rapid progressions of weakness but there were no statistical significances. CONCLUSION: Since deletions in dystrophin genes were detected in about 50% of the patients, studies on dystrophin protein expressions using muscle biopsy samples must be done for correct diagnosis.
Biopsy ; Codon, Nonsense ; Diagnosis ; DNA ; Dystrophin* ; Exons ; Gene Deletion ; Genotype ; Humans ; Immunohistochemistry ; Molecular Biology* ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophies* ; Phenotype ; Point Mutation ; Retrospective Studies ; Seoul