• Investigative Magnetic Resonance Imaging
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• v.19 no.2
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• pp.114-116
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• 2015

A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and a lack of myelination in both anterior limbs of the internal capsule. She also had neonatal bilateral subependymal cysts. We believe that the symmetrical lack of myelination in both anterior limbs of the internal capsule could be a diagnostic clue of cri-du-chat syndrome.

• Journal of Chest Surgery
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• v.21 no.4
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• pp.706-710
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• 1988

Intravascular hemolysis occurs in the majority of patient with mechanical valve prosthesis. The primary cause is mechanical trauma to red cells from turbulent blood flow through the prosthesis. Degree of hemolysis is dependent upon the type, size and material of valve and aggravated by paravalvular leakage. Clinically important hemolytic anemia is required medical management or consideration of reoperation. In severe hemolysis, reoperation is recommended without delay when seems to be renal failure. In this case, postoperative severe mechanical hemolysis was developed immediately after aortic valve replacement with St. Jude medical valve in a 13 year-old male patient. Neither significant paravalvular leakage nor valvular dysfunction was found through redo, but the mechanical valve was strongly suspected the cause of severe hemolysis. The St. Jude Medical valve was changed with Ionescu-Shiley bioprosthesis and any significant clinical problems were not noted through the postoperative course.

• Journal of Trauma and Injury
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• v.27 no.3
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• pp.75-78
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• 2014

Hypopharyngeal perforation is a rare, but fatal, complication. Clinical signs and symptoms of this condition are neck pain, odynophagia, dysphagia, fever, vomiting, cervical swelling and subcutaneous emphysema. However, these signs are obscured in patient suffering from severe trauma who has had an endotracheal tube inserted, which delay proper evaluation and treatment. Here, we report a case of hypopharyngeal perforation in a trauma patient who had an endotracheal tube inserted for mechanical ventilation.

• Journal of Korean Neurosurgical Society
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• v.55 no.3
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• pp.156-159
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• 2014

Coarctation and occlusion of the aorta is a rare condition that typically presents with hypertension or cardiac failure. However, neuropathy or myelopathy may be the presenting features of the condition when an intraspinal subarachnoid hemorrhage has compressed the spinal cord causing ischemia. We report two cases of middle-aged males who developed acute non-traumatic paraplegia. Undiagnosed congenital abnormalities, such as aortic coarctation and occlusion, should be considered for patients presenting with nontraumatic paraplegia in the absence of other identifiable causes. Our cases suggest that spinal cord ischemia resulting from acute spinal subarachnoid hemorrhage and can cause paraplegia, and that clinicians must carefully examine patients presenting with nontraumatic paraplegia because misdiagnosis can delay initiation of the appropriate treatment.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.4
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• pp.392-399
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• 2019

Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

• Journal of IKEEE
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• v.22 no.4
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• pp.1210-1213
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• 2018

In this paper, we propose a method to reduce the amount of current through the Timing Control of the duty cycle and the Report Attribute Control at the MAC Layer in consideration of the Sleep Mode under the IoT wireless environment. The use of a duty cycle is an effective way to reduce energy consumption on wireless sensor networks where the node is placed in sleep mode periodically. In particular, we studied how to control power efficiency through duty rate in Short Transition Time and ACK Time processing while satisfying radio channel limitation criterion. When comparing before and after the improvement considering the delay time constraint, we validated the correlation of the electrical current reduction.

• Annals of Clinical Neurophysiology
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• v.21 no.2
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• pp.108-112
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• 2019

Non-Hodgkin's lymphoma (NHL) may initially present with atypical neurological manifestations, including paraneoplastic neurological syndromes. Herein, we report the case showing an initial manifestation of systemic NHL with paraneoplastic demyelination in the brain that initially mimicked the symptoms of stroke, seizure, and brain tumor. A high index of suspicion and timely diagnostic workup is required to prevent diagnostic delay and commence proper management of the condition. In this situation, a whole-body FDG PET/CT could be useful to screen for occult malignancy.

• Nuclear Engineering and Technology
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• v.51 no.2
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• pp.618-625
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• 2019

When newcomer countries consider a nuclear power programme, it is recognized that the most important organizations are the Nuclear Energy Programme Implementing Organization (NEPIO), the regulator, and an operating organization. Concerning the number of construction delays these days, one of the essential organizations is an Authorized Inspection Agency (AIA). According to World Nuclear Industry Status Report, all of the reactors under construction in eight out of the thirteen countries have experienced delays. Globally, the Flamanville 3 project and Sanmen Unit 1 are 6.5 years and 5 years late respectively. One of the major reasons of delay is due to inappropriate manufacturing and inspection on safety class components. The recommendations are made to develop such an organization: (i) find existing inspection organizations in relevant industries, (ii) contract with expatriates who have experience on nuclear inspection, (iii) develop a legislative framework to authorize the inspection organization with enforcement, (iv) include a contract clause in the BIS for developing the AIA, (v) hold training programmes from vendor country, (vi) during manufacturing and construction, domestic AIA shall be involved.

• Journal of Dental Anesthesia and Pain Medicine
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• v.22 no.4
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• pp.315-321
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• 2022

Although rare, hypodermic needle fractures can occur in the maxillofacial region. In cases of fracture, urgent intervention is required to prevent further complications. We present the case of a 37-year-old female patient with a fractured needle in the left sublingual fossa during a lingual nerve block 6 months before referral. The fragment of a 30-gauge needle was located using cone-beam computed tomography and retrieved under local anesthesia with blunt dissection. The patient recovered uneventfully, except for predictable postoperative inflammatory complications, which resolved within 2 weeks. Precautions should be implemented to prevent needle fractures, which are usually preventable. However, if the retrieval is unsuccessful, the patient should be referred to a well-equipped surgical unit without delay.

• 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.