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.
Acute Kidney Injury ; Adolescent ; Brain ; Calcium ; Copper ; Genes, Recessive ; Gitelman Syndrome ; Hepatitis ; Hepatolenticular Degeneration ; Humans ; Hydrogen-Ion Concentration ; Hypohidrosis ; Intellectual Disability ; Kidney ; Liver ; Magnesium ; Male ; Metabolism ; Pancreatitis ; Potassium ; Sensation

In the twenty-first century, high contagious infectious diseases such as SARS (Severe Acute Respiratory Syndrome), MERS (Middle East Respiratory Syndrome), FMD (Foot-and-Mouth Disease) and AI (Avian Influenza) have become very prevalent, causing treat harm to humans and animals in aspect of public health, and economical issues. The critical problem is that newly-reported infectious diseases that humans firstly experience are expected to continue to emerge, and these diseases will be spreading out rapidly. Therefore, rapid and safe supplies of effective vaccines are most pivotal to prevent the rapid prevalent of new infection, but international standards or assessing protocol the safety of urgent vaccines are not established well. In our previous study, since we established a module to assess the brain safety of urgent vaccines, therefore, it is necessary to verify that this established module for assessing brain safety could work effectively in commercially available two vaccines (one killed- and on live-vaccines). We compared the results of Evans blue (EB) assay and qPCR analysis by injection of two kinds of vaccines, PBS and Lipopolysaccharide (LPS) under the condition of the module previously reported. We confirmed that the brain safety test module for urgent vaccine we established is very reproducible. Therefore, it is believed that this vaccine safety testing method can be used to validate brain safety when prompt supply of a newly developed vaccines is needed.
Animals ; Brain ; Communicable Diseases ; Coronavirus Infections ; Equipment and Supplies ; Evans Blue ; Humans ; Methods ; Public Health ; Severe Acute Respiratory Syndrome ; Vaccines

OBJECTIVE: Patients with acute coronary syndrome (ACS) are at an increased risk of suicide. It is well known that epigenetic mechanisms may explain the pathophysiology of suicidal behavior including suicidal ideation (SI), but no study has explored these mechanisms in ACS populations. METHODS: In total, 969 patients were initially recruited within 2 weeks of the acute coronary event and, 711 patients were successfully followed up 1 year after ACS. SI was evaluated using the relevant items on the Montgomery-Åsberg Depression Rating Scale and covariates potentially affecting SI were estimated. RESULTS: Brain-derived neurotrophic factor (BDNF) hypermethylation was associated with SI in both the acute and chronic phases of ACS, although the association was not statistically significant in the acute phase after applying Bonferroni’s correction. CONCLUSION: These results suggested that BDNF hypermethylation may have played a role in an epigenetic predisposition for SI in ACS patients, particularly during the chronic phase.
Acute Coronary Syndrome* ; Brain-Derived Neurotrophic Factor* ; Depression ; Epigenomics ; Humans ; Longitudinal Studies ; Methylation* ; Suicidal Ideation* ; Suicide

PURPOSE: The aim of this study was to assess the clinical characteristics of hypertensive encephalopathy according to the underlying etiologies in children. METHODS: We retrospectively evaluated 33 pediatric patients who were diagnosed as having hypertensive encephalopathy in Chonbuk National University Children's Hospital. Among the patients, 18 were excluded because of incomplete data or because brain magnetic resonance imaging (MRI) was not performed. Finally, 17 patients were enrolled and divided into a renal-origin hypertension group and a non-renal-origin hypertension group according to the underlying cause. We compared the clinical features and brain MRI findings between the 2 groups. RESULTS: The renal group included renal artery stenosis (4), acute poststreptococcal glomerulonephritis (2), lupus nephritis (2), and acute renal failure (1); the nonrenal group included essential hypertension (4), pheochromocytoma (2), thyrotoxicosis (1), and acute promyelocytic leukemia (1). The mean systolic blood pressure of the renal group (172.5±36.9 mmHg) was higher than that of the nonrenal group (137.1±11.1 mmHg, P<0.05). Seizure was the most common neurologic symptom, especially in the renal group (P<0.05). Posterior reversible encephalopathy syndrome (PRES), which is the most typical finding of hypertensive encephalopathy, was found predominantly in the renal group as compared with the nonrenal group (66.6% vs. 12.5%, P<0.05). CONCLUSION: We conclude that the patients with renal-origin hypertension had a more severe clinical course than those with non-renal-origin hypertension. Furthermore, the renal-origin group was highly associated with PRES on brain MRI.
Acute Kidney Injury ; Blood Pressure ; Brain ; Brain Diseases ; Child ; Glomerulonephritis ; Humans ; Hypertension ; Hypertensive Encephalopathy* ; Jeollabuk-do ; Leukemia, Promyelocytic, Acute ; Lupus Nephritis ; Magnetic Resonance Imaging ; Neurologic Manifestations ; Pheochromocytoma ; Posterior Leukoencephalopathy Syndrome ; Renal Artery Obstruction ; Retrospective Studies ; Seizures ; Thyrotoxicosis

PURPOSE: To report fundus photography using a smartphone in an infant with abusive head trauma. CASE SUMMARY: An 8-month-old male infant presented to the emergency room with decreased consciousness and epileptic seizures that the parents attributed to a fall from a chair. He had no external wounds or fractures to the skull or elsewhere. However, computerized tomography of the brain revealed an acute subdural hematoma in the right cranial convexity and diffuse cerebral edema, leading to a midline shift to the left and effacement of the right lateral ventricle and basal cistern. The attending neurosurgeon promptly administered a decompressive craniectomy. Immediately after the emergency surgery, a fundus examination revealed numerous multi-layered retinal hemorrhages in the posterior pole extending to the periphery in each eye. He also had white retinal ridges with cherry hemorrhages in both eyes. We acquired retinal photographs using the native camera of a smartphone in video mode. The photographer held the smartphone with one hand, facing the patient's eye at 15–20 cm, and held a 20 diopter condensing lens at 5 cm from the eye in the other hand. Our documentation using a smartphone led to a diagnosis of abusive head trauma and to obtain the criminal's confession, because the findings were specific for repetitive acceleration-deceleration forces to an infant`s eye with a strong vitreoretinal attachment. CONCLUSIONS: This ophthalmic finding had a key role in the diagnosis of abusive head trauma. This case presented the diagnostic use of a smartphone for fundus photography in this important medicolegal case.
Brain ; Brain Edema ; Consciousness ; Craniocerebral Trauma* ; Decompressive Craniectomy ; Diagnosis ; Emergencies ; Emergency Service, Hospital ; Epilepsy ; Hand ; Head* ; Hematoma, Subdural, Acute ; Hemorrhage ; Humans ; Infant* ; Lateral Ventricles ; Male ; Neurosurgeons ; Parents ; Photography* ; Retinal Hemorrhage ; Retinaldehyde ; Shaken Baby Syndrome ; Skull ; Smartphone* ; Wounds and Injuries

Acute disseminated encephalomyelitis (ADEM) and Guillain-Barré syndrome (GBS) are both rare post-infectious neurological disorders. The co-existence of these conditions has often been reported despite of low incidence. We describe a 20-year-old male, who presented with acute flaccid paralysis and encephalopathy. The patient showed reversible MRI lesions suggesting ADEM. This case showed anti-GT1a IgG and anti-GM1 IgM antibodies positivity. We suggest that certain immunogenicity within central and peripheral nervous system may share a common autoimmune process during the disease course.
Antibodies* ; Brain Diseases ; Encephalomyelitis, Acute Disseminated* ; Gangliosides ; Guillain-Barre Syndrome* ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Incidence ; Magnetic Resonance Imaging ; Male ; Nervous System Diseases ; Paralysis ; Peripheral Nervous System ; Young Adult

BACKGROUND: B-type natriuretic peptide (BNP) levels are elevated in various conditions unrelated to heart failure, such as acute coronary syndrome, and cardiac troponin (cTn) levels may also be elevated in several non-ischemic conditions. This study aimed to evaluate the clinical usefulness of combined cardiac marker testing (BNP and cTnI) with point-of-care devices in patients who presented to the emergency department (ED). METHODS: Two thousand six hundred and seventy-four consecutive patients who visited the ED from March to August 2013 were included in this study. Cardiac marker testing was performed using the Triage Cardio3 panel (Alere, USA). Electronic medical records were collected on August 2014. RESULTS: We found that 22.2% patients had elevated BNP and/or cTnI (12.8% with only elevated BNP, 4.4% with only elevated cTnI, and 5.0% with both elevations). Patients with elevations in both marker levels showed significantly higher admission rate (78.5% vs. 62.7%, P=0.006) and longer length of hospital stay (11 vs. 6 days, P=0.001) than those with only elevated cTnI. Patients with elevations in both marker levels also showed higher admission rate (78.5% vs. 67.3%, P=0.016) and higher BNP levels (430 vs. 194 pg/mL, P<0.001) than those with only elevated BNP. CONCLUSIONS: Concurrent elevation of BNP and cTnI may be associated with inferior clinical outcome and combined testing of cTnI and BNP levels with high sensitivity would provide important information for assisting management decisions at the ED.
Acute Coronary Syndrome ; Electronic Health Records ; Emergencies* ; Emergency Service, Hospital* ; Heart Failure ; Humans ; Length of Stay ; Natriuretic Peptide, Brain ; Point-of-Care Systems* ; Triage ; Troponin ; Troponin I

BACKGROUND: Acute heart failure negatively affects short-term outcomes of patients with acute coronary syndrome (ACS). Therefore, reliable and non-invasive assessment of pulmonary congestion is needed to select patients requiring more intensive monitoring and therapy. Since plasma levels of natriuretic peptides are influenced by myocardial ischemia, they might not reliably reflect congestion in the context of ACS. The novel endothelial biomarker, soluble CD146 (sCD146), presents discriminative power for detecting the cardiac origin of acute dyspnea similar to that of natriuretic peptides and is associated with systemic congestion. We evaluated the performance of sCD146 for the assessment of pulmonary congestion in the early phase of ACS. METHODS: One thousand twenty-one consecutive patients with ACS were prospectively enrolled. Plasma levels of sCD146, brain natriuretic peptide (BNP), and high-sensitive troponin T were measured within 24 hr after the onset of chest pain. Pulmonary congestion on chest radiography was determined and classified in three groups according to the degree of congestion. RESULTS: Nine hundred twenty-seven patients with ACS were analyzed. Ninety-two (10%) patients showed signs of pulmonary edema on chest radiography. Plasma levels of sCD146 reflected the radiological severity of pulmonary congestion. Higher plasma levels of sCD146 were associated with the worse degree of pulmonary congestion. In contrast to BNP, sCD146 levels were not affected by the level of troponin T. CONCLUSIONS: The novel endothelial biomarker, sCD146, correlates with radiological severity of pulmonary congestion in the early phase of ACS and, in contrast to BNP, is not affected by the amount of myocardial cell necrosis.
Acute Coronary Syndrome/*diagnosis/diagnostic imaging ; Aged ; Antigens, CD146/blood ; Biomarkers/blood ; Chest Pain/diagnostic imaging/*pathology ; Electrocardiography ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Male ; Middle Aged ; Myocardial Infarction/diagnosis ; Natriuretic Peptide, Brain/*blood ; Severity of Illness Index ; Troponin T/blood

OBJECTIVE: The purpose of this study was to investigate the impact of continuous renal replacement therapy (CRRT) on survival and relevant factors in patients who underwent CRRT after traumatic brain injury (TBI). METHODS: We retrospectively reviewed the laboratory, clinical, and radiological data of 29 patients who underwent CRRT among 1,190 TBI patients treated at our institution between April 2011 and June 2015. There were 20 men and 9 women, and the mean age was 60.2 years. The mean initial Glasgow Coma Scale score was 9.2, and the mean injury severity score was 24. Kaplan-Meier method and Cox regression were used for analysis of survival and relevant factors. RESULTS: The actuarial median survival time of the 29 patients was 163 days (range, 3-317). Among the above 29 patients, 22 died with a median survival time of 8 days (range, 3-55). The causes of death were TBI-related in 8, sepsis due to pneumonia or acute respiratory distress syndrome (ARDS) in 4, and multi-organ failure in 10. Among the various factors, urine quantity of more than 500 mL for 24-hours before receiving CRRT was a significant and favorable factor for survival in the multivariate analysis (p=0.026). CONCLUSION: According to our results, we suggest that early intervention with CRRT may be beneficial in the treatment of TBI patients with impending acute renal failure (ARF). To define the therapeutic advantages of early CRRT in the TBI patients with ARF, a well-designed and controlled study with more cases is required.
Acute Kidney Injury* ; Brain Injuries* ; Cause of Death ; Early Intervention (Education) ; Female ; Glasgow Coma Scale ; Humans ; Injury Severity Score ; Intracranial Pressure ; Male ; Methods ; Multivariate Analysis ; Pneumonia ; Renal Replacement Therapy* ; Respiratory Distress Syndrome, Adult ; Retrospective Studies ; Sepsis

Reactions to Hymenoptera stings are classified into local reactions, large local reactions, systemic anaphylactic reactions, systemic toxic reactions, and unusual reactions. They are also classified into immediate and delayed reactions. The most frequent clinical patterns are large local and systemic anaphylactic reactions. The skin, and the gastrointestinal, respiratory, and cardiovascular systems can be involved. A variety of unusual or unexpected reactions, such as acute encephalopathy, acute renal failure, nephrotic syndrome, silent myocardial infarction, diffuse alveolar hemorrhage, rhabdomyolysis, and cataracts, occur in a temporal relationship to insect stings. Here, we report a 31-year-old woman with delayed generalized edema, weight gain, and unusual reactions 24 hours after bee sting.
Acute Kidney Injury ; Adult ; Anaphylaxis ; Bees ; Bites and Stings* ; Brain Diseases ; Cardiovascular System ; Cataract ; Edema ; Female ; Hemorrhage ; Humans ; Hymenoptera* ; Insect Bites and Stings ; Myocardial Infarction ; Nephrotic Syndrome ; Rhabdomyolysis ; Skin ; Weight Gain