• Journal of Trauma and Injury
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• v.22 no.1
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• pp.37-43
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• 2009

Purpose: A missed fracture is a very common occurrence in the Emergency Department (ED) and can have serious results because of delays in treatment, resulting in long-term disability. It is also one of the most common causes leading to medical legal issues. We analyzed the causes of missed fractures by using a bone scan which is known to be an effective tool for diagnosing bony lesions. Methods: We reviewed the medical records of trauma patients who underwent a bone scan after being discharged the ED from September 2006 to March 2008. Cases of missed fractures were identified by using electronic medical records to review each diagnosis. Definition of missed fracture was read after bone scan by radiologist. We decided that there was no fracture if we read 'trauma-related lesion' or 'cannot rule out fracture' on a bone scan read by a radiologist. Enrolled patients were analyzed by age, sex, time until bone scan and Injury Severity Score (ISS). Patients were divided into two groups, alert mentality and not-alert mentality, so there were split between a diagnosis group and a missed fracture group. ISS was also used in determining the severity of the patient's injury upon discharge from the ED. Results: A total of 532 patients were enrolled in this study. Of those, 487 patients were in the diagnosis group, and 45 patients (8.4%) were discovered to have had a fracture. Of the 45 missed fracture patients, 34 patients (6.4%) had one-site fractures, 8 patients (1.5%) had two-site fractures, and 3 patients (0.6%) had three-site fractures. The most commonly missed fracture was multiple rib fractures (18 patients, 30.5%), followed by lumbosacral (LS) spine fractures (10 patients, 16.9%), thoracic spine fractures (8 patients, 13.6%), and clavicle fractures (6 patients, 10.2%). Mean age was $50.12{\pm}18.54$ years in the diagnosis group and $57.38{\pm}16.88$ years in the missed fracture group. For the diagnosis group, the mean ISS was $9.03{\pm}8.26$, but in the missed fracture group it was $17.53{\pm}9.69$. Missed fractures were much more frequent in the not-alert mentality (p<0.01) and in the high (ISS$ ISS{\geq}16$) group (p<0.01). Conclusion: Missed fractures occur most frequent in patients of old age, not-alert mentality, and high ISS. Multiple rib and spine fractures were found to be the most frequent missed fractures, regardless of trauma severity. This study also shows a high possibility of clavicle and scapula fractures in patients with severe trauma.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.2
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• pp.31-38
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• 2023

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.

• Pediatric Infection and Vaccine
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• v.31 no.1
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• pp.153-157
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• 2024

Septic arthritis of the manubriosternal joint is a rare condition, especially in adolescents, who often present with nonspecific symptoms that can mimic more common conditions such as musculoskeletal chest pain, costochondritis. Here, we report a case of septic arthritis in a 17-year-old girl and highlight the challenges in diagnosing and managing this condition in adolescents. Initially presenting with acute chest pain diagnosed as transient nonspecific chest pain, the patient's subsequent visits to the emergency department unveiled escalating symptoms, including high fever, prompting advanced imaging. Ultimately, the diagnosis of septic arthritis of the manubriosternal joint was confirmed, with blood culture growth revealing Methicillin-sensitive Staphylococcus aureus. Diagnostic delays have been attributed to the absence of typical symptoms and patient reluctance to be hospitalized. Our case emphasizes the importance of considering rare infectious etiologies in adolescents with chest pain and emphasizes the need for heightened suspicion in unusual anatomical sites. Further research is required to elucidate the pathogenesis and risk factors associated with this condition to aid in prompt diagnosis and treatment.

• Clinical and Experimental Pediatrics
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• v.55 no.10
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• pp.397-402
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• 2012

Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1) located at Xq22, leading to the failure of axon myelination by oligodendrocytes in the central nervous system. PMD may be suspected when there are clinical manifestations such as nystagmus, developmental delays, and spasticity, and genetic analysis can confirm the diagnosis. Further diagnostic manifestations of the disease include a lack of myelination on brain magnetic resonance (MR) imaging and aberrant N-acetyl aspartate (NAA) and choline concentrations that reflect axonal and myelination abnormalities on phroton MR spectroscopy. We report 5 cases of PMD (in 1 girl and 4 boys). PLP1 duplication was detected in 2 patients. Brain MR analyses and MR spectroscopy were performed for all the patients. The brain MR images showed white matter abnormalities typical of PMD, and the MR spectroscopic images showed diverse patterns of NAA, creatinine, and choline concentrations. We propose that MR spectroscopic analysis of metabolic alterations can aid the PMD diagnosis and can contribute to a better understanding of the pathogenesis of the disease.

• Journal of Korean Foot and Ankle Society
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• v.27 no.2
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• pp.55-57
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• 2023

Purpose: Tibialis anterior tendon rupture is uncommon and usually caused by laceration. Rupture with an open window is often considered simple laceration, and thus diagnosis is often overlooked or delayed. The purpose of this study was to analyze the clinical features of tibialis anterior tendon rupture. Materials and Methods: Twenty-two patients treated for tibialis anterior tendon rupture from March 2015 to December 2019 were examined. Age, sex, rupture etiology, rupture location, and diagnostic and treatment delays were investigated. Results: Mean patient age was 45.7 years, and there were 14 males and 8 females. In 18 cases, rupture was caused by laceration and in 4 by spontaneous rupture. Of the 18 cases caused by laceration, 8 were lawnmower related, 8 were glass injuries, and 2 were caused by crush or degloving injuries, respectively. Three of the 4 spontaneous rupture cases and 4 of the 18 caused by laceration were overlooked. Conclusion: Tibialis anterior tendon rupture is rare and is easily overlooked. Close physical examination is essential to arrive at a correct initial diagnosis in patients with acute or chronic rupture, and greater care is needed in cases of glass injury.

• The Korean Journal of Food & Health Convergence
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• v.8 no.6
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• pp.11-17
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• 2022

Emergency transport is directly related to the life of the patient, and rapid transport to the hospital is crucial. However, external environmental factors such as traffic or weather, interfere with hospital transport. In this study, we investigated the external environment affecting hospital transport time. We examined the transfer time and patient treatment time of emergency patients in an area of northern Gyeonggi-do from 2018 to 2020. Diagnosis after arrival at the hospital was used, and on-site treatment time was measured from paramedic arrival time at the scene to departure. Furthermore, we examined whether there was a correlation between the time paramedics left the scene and hospital arrival time through the reason for the delay as recorded in the emergency log. Traffic jams had the greatest impact on patient transport, while transport delays occurred due to heavy rain, but not snow. Among injured patients, electrical accidents were the most problematic in terms of on-site treatment time. This was because a lot of first aid is needed in electrical accidents. It must be necessary to mobilize two ambulances in an emergency through the expansion of infrastructure, prepare a plan for rapid transport in heavy rain, and implement strong laws against transport obstruction.

• Journal of the Korean Society of Radiology
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• v.81 no.6
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• pp.1529-1536
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• 2020

Invasive pulmonary aspergillosis (IPA) has been known to occur in immunocompromised patients, but has been rarely reported in immunocompetent patients. In immunocompetent patients, pulmonary fungal infections are not initially considered. This results in diagnosis and treatment delays, as well as poor prognosis. We report a case and serial CT findings of IPA in an immunocompetent 29-year-old male after congenital heart disease surgery.

• Korean Journal of Biological Psychiatry
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• v.27 no.2
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• pp.112-116
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• 2020

Leucine rich glioma inactivated (LGI1) encephalitis is an uncommon neurological disorder rarely encountered in clinical practice. However, it is a potentially fatal autoimmune syndrome that can decrease the level of consciousness, possibly progressing to coma. Additionally, unless diagnosed and promptly treated, it can cause permanent cognitive impairment. Since LGI1 encephalitis can initially present with psychiatric symptoms, there can be delays in reaching a proper diagnosis. This report describes a case of a 47-year-old woman with LGI1 antibodies-associated limbic encephalitis who initially presented with psychosis. Her blood tests were normal and no MRI and EEG abnormalities were found. Cerebrospinal fluid analysis was negative for other possible infectious causes. Three months after admission, she was found to be LGI1 antibody positive. LGI1 encephalitis should be suspected in patients with symptoms such as memory loss, confusion, seizures, and psychiatric symptoms. Prompt diagnosis and treatment of LGI1 encephalitis are warranted because prognosis becomes worse when such actions are delayed.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.43-46
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• 2016

We present a case of tuberculosis-associated hemophagocytic lymphohistiocytosis in a 14-year-old girl. The patient presented with weight loss, malaise, fatigue, prolonged fever, and generalized lymphadenopathy. Laboratory investigation revealed pancytopenia (white blood cells, $2,020cells/{\mu}L$; hemoglobin, 10.2 g/dL; platelets, $52,000cells/{\mu}L$), hypertriglyceridemia (229 mg/dL), and hyperferritinemia (1,420 ng/mL). Bone marrow biopsy showed a hypocellular bone marrow with a large numbers of histiocytes and marked hemophagocytosis; based on these findings, she was diagnosed with hemophagocytic lymphohistiocytosis. Polymerase chain reaction (PCR) with both the bone marrow aspiration and sputum samples revealed the presence of Mycobacterium tuberculosis. Antitubercular therapy with immune modulation therapy including dexamethasone and intravenous immunoglobulin was initiated. The results of all laboratory tests including bone marrow biopsy and PCR with both the bone marrow aspiration and sputum samples were normalized after treatment. Thus, early bone marrow biopsy and the use of techniques such as PCR can avoid delays in diagnosis and improve the survival rates of patients with tuberculosis-associated hemophagocytic lymphohistiocytosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.