• Journal of Trauma and Injury
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• v.29 no.2
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• pp.51-55
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• 2016

Isolated injury to the pancreas after abdominal trauma is uncommon, and a delay in diagnosis and treatment can increase the morbidity and mortality. Therapeutic decisions with respect to pancreatic trauma are usually made based on the site of injury and the status of the pancreatic ductal system. In this report, we describe the surgical management of pancreatic head transection as an isolated injury following blunt abdominal trauma. A 55-year-old man presented with epigastric pain that radiated to the back. Abdominal computed tomography revealed a hematoma in the pancreatic head and upstream dilatation of the main pancreatic duct. Endoscopic retrograde cholangiopancreatography showed complete disruption of and contrast leakage from the main pancreatic duct in the pancreatic head region with a nonenhanced upstream duct. Emergency pancreaticoduodenectomy was successfully performed, and the patient was discharged on postoperative day 9 without any complications.

• Korean Journal of Digital Imaging in Medicine
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• v.16 no.1
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• pp.61-67
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• 2014

The demand of cyclotron for PET (positron emission tomography) has rapidly grown as the more use of PET or PET-CT equipment requires the increased amount of radioactive isotopes for clinical positron emission. While research on failure statistics of medical equipment used in medical centers has continued to be done, the analysis and study on failure statistics of cyclotron have rarely been conducted. However, the growing demand shows the urgency of systematical management guideline and countermeasures for device failure to minimize any supply delay of radiopharmaceuticals occurred by such failure and complains from waiting patients for PET-CT diagnosis. Therefore, this study aims to analyze the failure report from Minitrace equipped in cyclotron which is owned by the department of nuclear medicine at Yeungnam University Medical Center and draws on the data to build effective management system for cyclotron.

• Journal of Korean Foot and Ankle Society
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• v.20 no.4
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• pp.182-186
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• 2016

The tibialis anterior tendon functions as a major dorsiflexor of the ankle. A rupture in this tendon can cause serious problems in the ambulatory function. A closed traumatic rupture without open wound or an atraumatic rupture can delay diagnosis and treatment. There are not enough guidelines for an effective surgical treatment on this chronic condition. Herein, we report two cases of chronic tibialis anterior disruption successfully treated by semitendinosus autograft.

• Proceedings of the KIEE Conference
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• 2003.07b
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• pp.738-740
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• 2003

A lot of R&D on the diagnosis of stator winding insulation for large rotating machines has been carried out since the 1970s. The on-line partial discharge measurement has proved to be an effective technique in the evaluation of the state of stator insulation in high voltage rotating machines. It is well known that if the discharge pulses propagate through the winding conductor, they are attenuated and delayed. In the present study, to investigate the attenuation and the time delay of discharge pulses through the winding conductor, a series of tests were conducted using a model coils and slot. Thus it could be concluded that while the high frequency pulse propagates in radiation or end-winding coupling modes, the low frequency one does in a series mode through the coil conductor.

• Journal of Interdisciplinary Genomics
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• v.3 no.1
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• pp.13-20
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• 2021

Developmental and epileptic encephalopathies are the most devastating early-onset epilepsies, characterized by early-onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay or regression, and various comorbidities. A large number of underlying genetic variants of developmental and epileptic encephalopathies have been identified over the past few decades. However, the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. This review explores the genetic basis of developmental and epileptic encephalopathies that start within the first year of life, including Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, infantile spasms, and Dravet syndrome. The purpose of this review is to give an overview and encourage the clinicians to start considering genetic testing as an important investigation along with electroencephalogram for better understanding and management of developmental and epileptic encephalopathies.

• Journal of Interdisciplinary Genomics
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• v.5 no.1
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.13-17
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• 2023

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

• Journal of Dental Rehabilitation and Applied Science
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• v.32 no.1
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• pp.38-46
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• 2016

Purpose: study for discriminating method of origin side vibration from non-symptomatic clicking group. Materials and Methods: 60 joints vibrations of 30 subjects in non-symptomatic clicking group was recorded via subject's awareness, examiner's palpation and JVA analysis. Origin side vibration was discriminated with consideration for frequency spectrum, time delay and phase shift of waveforms, analysis of numeric values. Results: There were all unilateral vibrations with JVA analysis and number of origin vibrations were 42. 11 pairs of vibrations showed time delay and phase shift and transferred side vibrations showed smaller values of total integral and bigger values of > 300 / < 300 ratio than origin side vibrations except one pair of vibrations. Also as the ipsi-lateral joint vibrations with smaller values of total integral showed bigger values of > 300 / < 300 ratio than the contra-lateral joint vibrations and there all ipsi-lateral vibrations were showed small values of total integral below 10 and hard to detect time delay and phase shift. So the features were used in discrimination of origin side vibrations. Conclusion: There should be all-around considerations for discrimination of origin side vibrations that is frequency spectrum, phase shift and time delay and analysis of numeric values.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.17 no.2
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• pp.55-62
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• 2017

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by beta-glucosidase deficiency. An 18 month-old male with hepatosplenomegaly, anemia, thrombocytopenia, and growth retardation referred to our hospital. The patient showed neurological symptoms, such as supranuclear gaze palsy and developmental delay. Bone marrow biopsy performed to rule out malignancy and the results revealed no malignant cell; however, abnormal histiocytes suggesting storage disease was noted. Based on hepatosplenomegaly, bicytopenia and unexplained neurologic manifestations, enzyme activity and genetic analysis were conducted emergently with a strong suspicion of GD. Beta-glucosidase activity in leukocyte was decreased. GBA sequencing to confirm the diagnosis revealed compound heterozygous pathogenic variants (i.e., c.754T>A, c.887G>A), both previously reported as the cause of neuronopathic GD. Under the diagnosis of type 3 GD, the patient immediately received enzyme replacement therapy (ERT). After 17 months of ERT, the size of spleen decreased, and hemoglobin and platelet count returned to normal. In addition, the activity of chitotriosidase and angiotensin converting enzyme decreased. However, myoclonic movement and generalized seizure occurred at the age of 19 months and antiepileptic drug was started. Other neurological deterioration including supranuclear gaze palsy and developmental delay also persisted. A new therapy to overcome neurologic problems should be developed for patients with type 3 GD.