We experinced a case of 4p+ syndrome in male infant. He had multiple anomalies such as flat occiput, hypertelorism, low set malformed ear, lower anterior hair line, depressed nose, broad nasal bridge, bilateral complete cleft lip and palate, short neck, unusual position of fingers, ventricular septal defect and umblical hernia. He menifested growth and developmental retardation. Karyotype with banding revealed an extra short arm of chromosome 4. The mother's karyotype was normal. His father and father's sister had a translocation between the short arm of chromosome 4 and the short arm of chromosome 9; their karyotypes were 46, XY, t(4;9) and 46, XX, t(4;9), respectively. In this case, trisomy 4p was the result of parental balanced translocatiom. As this is the first case in Korea, it is worthwhile to report with reviewing literature.
Arm ; Chromosomes, Human, Pair 4 ; Chromosomes, Human, Pair 9 ; Cleft Lip ; Ear ; Fathers ; Fingers ; Growth and Development ; Hair ; Heart Septal Defects, Ventricular ; Hernia ; Humans ; Hypertelorism ; Infant ; Karyotype ; Korea ; Male ; Neck ; Nose ; Palate ; Parents ; Siblings ; Trisomy

Focal brainstem encephalitis due to Herpes simplex virus if a very rare infectious disease, occurs with a frequent of 1-2 million population per year. A 3 years old girl is described with infection due to Herpes simplex virus causing brainstem encephalitis. The diagnosis was established by enzyme immunosorbent assays of the cerebrospinal fluid and serum which demonstrated antibody responsed to Herpes simplex virus. The clinicopathological features, radiological findings, laboratories and brainstem biopsies are discussed in the context of the literature.
Biopsy ; Brain Stem* ; Cerebrospinal Fluid ; Child, Preschool ; Communicable Diseases ; Diagnosis ; Encephalitis* ; Female ; Herpes Simplex* ; Humans ; Simplexvirus*

BACKGROUND: The inhibitory effects of nitric oxide(NO) on platelet adhesion and vascular smooth muscle cell(VSMC) proliferation may have a possible role inhibiting development of neointima following balloon catheter induced injury. We tested the hypothesis that L-arginine, the precursor of NO, would attenuate neointima formation following balloon catheter induced injury via regulation of antagonistic balance between proliferation and apoptosis of VSMC. METHODS: Adult, male Sprague-Dawley rats(300 to 400g) were anesthetized with ketamine (100mg/kg intraperitoneally). The left common and external carotid artery were exposed. For endothelial denudation, 2mm angioplasty catheter was introduced through the left external carotid artery into the left common carotid artery. The catheter was inflated at I atm. and withdrawn three times. Animals were randomized to receive 2.25% L-arginine in their drinking water(n=14) or placebo(n=16) from 2 days prior to and 9 days following denudation. VSMC proliferation was quantified by immunohistochemical staining with an antibody to the proliferating cell nuclear antigen(PCNA). The cells undergoing apoptosis were identified by terminal nucleotidyl transferase-mediated nick end labeling(TUNEL) method and morphologic changes by computerized planimetry and transmission electron microscopy. RESULTS: 1) The neointimal area in injured arteries were significantly reduced in L-arginine supplemented animals compared with placebo group(p<0.05). 2) L-arginine administration significantly reduced the number of PCNA positive cells in neointima when compared with placebo at 9 days(p<0.05). 3) Positive TUNEL cells were not influenced by L-arginine supplementation. 4) On transmission electron microscopy, there were no cells showing characteristics of apoptosis in neointima. CONCLUSION: These results suggested that the inhibitory effect of L-arginine on neointima formation is due to reduced VSMC proliferation, but is not due to increased VSMC apoptosis at the early time period after initmal injur .
Adult ; Angioplasty ; Animals ; Apoptosis ; Arginine* ; Arteries ; Blood Platelets ; Carotid Artery, Common ; Carotid Artery, External ; Catheters ; Drinking ; Humans ; In Situ Nick-End Labeling ; Ketamine ; Male ; Microscopy, Electron, Transmission ; Muscle, Smooth, Vascular ; Neointima* ; Proliferating Cell Nuclear Antigen ; Rats* ; Rats, Sprague-Dawley ; Vascular System Injuries*

The authors present the one case of a 22-year-old man admitted with intermittent quadriparesis and respiratory difficulty. On investigation, atlantoaxial instability and upper cervical cord compression due to abnormal soft tissue were revealed. We have performed transoral decompression and biopsy, and then posterior transarticular facet screw fixation with interspinous wiring and fusion. We could obtain immediate and long-term postoperative stability with Philadelphia collar only. The pathologic examination reveald connective soft tissue hypertrophy due to chronic mechanical irritation.
Biopsy ; Decompression* ; Humans ; Hypertrophy ; Quadriplegia ; Young Adult

Internal carotid-posterior communicating artery aneurysms are frequently related to third nerve palsy which is reversible after the clipping of aneurysm. The authors had analyzed 61 cases in 52 patients who have posterior communicating artery aneurysm and evaluated the factors affecting the development of third nerve palsy and its recovery after clipping of the aneurysm. The results are followings 1) Oculomotor nerve palsy was noticed in 10 patients(16.4%) among 61 cases of posterior communicating artery aneurysm, of which 6 had complete and 4 had partial palsies. 2) Posteriolateral inferior direction of the aneurysm seemed to be closely related to the development of ophthalmoplegia. 3) Development of ophthalmoplegia was not related to the clinical status of the patient on admission, but to the amount of subarachnoid hemorrhage on initial CT scan and size of the aneurysm. 4) Preoperative degree of third nerve palsy and the timing of operation are not definitely related to the recovery of ophthalmoplegia. 5) The recovery of third nerve palsy are normalization of ptosis, normalization of EOM limitation and normalization of papillary change in order.
Aneurysm* ; Arteries* ; Humans ; Intracranial Aneurysm ; Oculomotor Nerve Diseases* ; Oculomotor Nerve* ; Ophthalmoplegia ; Paralysis ; Subarachnoid Hemorrhage ; Tomography, X-Ray Computed

It is known that the prognosis of spontaneous SAH(subarachnoid hemorrhage) of undetermined cause is generally favorable. Yet, the natural history and pathogenesis of SAH of undetermined cause remain controversial and patients management is largely empirical. 42 cases of non-traumatic SAH of undetermined cause of a total of 415 cases of SAH treated during a 5-year period(1991-1996) were available for this study. What should be done when angiography is negative after SAH? This study was undertaken to present a more definitive management in preventing rebleeding after SAH of undetermined cause. This study show that explorative craniotomy for aneurysmal operation is warranted, despite negative cerebral panangiograms, if the patient manifests the classical signs and symptoms of SAH and definite subarachnoid blood in CT(computed tomogram) or direct lumbar puncture and any suspicious lesions in cerebral panangiography, particularly the AcoA(anterior communicating artery) region.
Aneurysm ; Angiography ; Craniotomy ; Humans ; Natural History ; Prognosis ; Spinal Puncture ; Subarachnoid Hemorrhage*

Objective: Serious bacterial infection (SBI) is a common disease among infants, and it is associated with high morbidity and mortality. Making the diagnosis of SBI is challenging and measurement of various biomarkers is useful. This study examined the utility of lactate at an emergency department for diagnosing SBI patients. Methods: This was a retrospective, observational study of febrile infants less than 90 days old presenting to the emergency department of a tertiary hospital between September 2014 and August 2017. The demographic and laboratory data was collected through a chart review. Results: Laboratory tests such as the white blood cell count, C-reactive protein (CRP), procalcitonin, and lactate showed significant differences on the Student-T test and the Mann Whitney-U test. Multivariabe logistic regression test was done using the variables with significant differences. CRP (P=0.037; odds ratio, 1.01), procalcitonin (P=0.011; odds ratio, 1.02) and lactate (P=0.001; odds ratio, 2.38) shows significant correlation. Conclusion For febrile infants at the emergency department, the measurement of lactate is expected to be a useful tool to diagnose serious bacterial infection.

Objective: Tsutsugamushi disease is a febrile illness caused by tick bites. Delay in making the diagnosis and treatment cause an increase of the frequency of complications and mortality. The aim of this study was to determine quick sequential organ failure assessment (qSOFA) to predict the clinical outcome of scrub typhus patients in emergency departments. Methods: This was a retrospective, observational study of patients with tsutsugamushi disease and who presented to the emergency department of an urban hospital and a rural tertiary hospital between January 2013 and December 2018. The demographic and laboratory data was collected through a chart review. Statistical analysis was performed by dividing the patients into the general ward admission group (general ward) and the intensive care unit admission group (ICU). Results: Age, Acute Physiology and Chronic Health Evaluation II (APACHE) II score and laboratory tests such as pH, leukocyte count, C-reactive protein, and procalcitonin also showed significant differences between the general ward and ICU groups on the univariable logistic regression analysis, but only the qSOFA score among the variables showed a significant difference on the multivariate logistic regression analysis (P=0.014). Conclusion The qSOFA score will be a prompt and useful tool for predicting the prognosis of patients with tsutsugamushi disease in the emergency department.

In the spring of 2011, a cluster of lung injuries caused by humidifier disinfectant (HD) usage were reported in Korea. Many patients required mechanical ventilation, extracorporeal membrane oxygenation, and even lung transplantation (LTPL). However, the long-term course of HD-associated lung injury remains unclear because the majority of survivors recovered normal lung function. Here we report a 33-year-old woman who underwent LTPL approximately four years after severe HD-associated lung injury. The patient was initially admitted to the intensive care unit and was supported by a high-flow nasal cannula. Although she had been discharged, she was recurrently admitted to our hospital due to progressive lung fibrosis and a persistent decline in lung function. Finally, sequential double LTPL was successfully performed, and the patient's clinical and radiological findings showed significant improvement. Therefore, we conclude that LTPL can be a therapeutic option for patients with chronic inhalation injury.
Adult ; Catheters ; Disinfectants ; Extracorporeal Membrane Oxygenation ; Female ; Fibrosis ; Humans ; Humidifiers* ; Inhalation ; Inhalation Exposure ; Intensive Care Units ; Korea ; Lung Injury* ; Lung Transplantation* ; Lung* ; Oxygen Inhalation Therapy ; Respiration, Artificial ; Survivors

Most esophageal lipomas are discovered incidentally and are small and asymptomatic. However, large (>4 cm) lipomas may cause various symptoms, including dysphagia, regurgitation, or epigastric discomfort. We present a 45-year-old woman with intermittent sudden choking and globus pharyngeus. Upper gastrointestinal endoscopy and endoscopic ultrasound revealed an approximately 10.0×1.5 cm pedunculated subepithelial tumor in the upper esophagus, identified as the cause of her symptoms. A thoracic computed tomography scan revealed a fat attenuated longitudinal mass along the upper esophagus, suggestive of a lipoma. Endoscopic resection of the lesion was performed with a detachable snare to relieve her symptoms, and the pathologic findings were consistent with a lipoma.
Airway Obstruction* ; Deglutition Disorders ; Endoscopy ; Endoscopy, Gastrointestinal ; Esophagus ; Female ; Humans ; Lipoma* ; Middle Aged ; SNARE Proteins ; Ultrasonography