We report here a case of maternal 3-methylcrotonyl-coenzyme A carboxylase (3-MCC) deficiency in a Korean woman. Her 2 infants had elevated 3-hydroxyisovalerylcarnitine (C5-OH) on a neonatal screening test by liquid chromatography-tandem mass spectrometry (LC-MS/MS), but normal results were found on urine organic acid analysis. The patient was subjected to serial testing and we confirmed a maternal 3-MCC deficiency by blood spot and breast milk spot test by LC-MS/MS, serum amino acid analysis, urine organic acid and molecular genetic analysis that found c.838G>T (p.Asp280Tyr) homozygous mutation within exon 9 of the MCCB gene. Especially, we confirmed marked higher levels of C5-OH on breast milk spot by LC-MS/MS, in the case of maternal 3-MCC deficiency vs. controls.
Breast* ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Mass Spectrometry ; Milk, Human* ; Molecular Biology ; Neonatal Screening

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.
Diagnosis ; Epilepsy ; Family Planning Services ; Follow-Up Studies ; Heparitin Sulfate ; Humans ; Intellectual Disability ; Lysosomal Storage Diseases ; Mucopolysaccharidoses* ; Mucopolysaccharidosis III* ; Pneumonia

BACKGROUND AND OBJECTIVES: Chronic obstructive pulmonary disease (COPD) is known to induce chronic rhinosinusitis (CRS). Nasal polyp, which is frequently found in patients with CRS, seems to have close relationship with COPD, but little is known about its relationship with COPD. In this study, we investigated the relationship between COPD and nasal polyp in middle aged and elderly CRS patients. SUBJECTS AND METHOD: We analyzed the clinical data of 174 patients (age of over 50 years) with CRS. Patients were divided as COPD [forced expiratory volume (FEV1)/forced vital capacity (FVC)<70%, n=30] and non-COPD group (FEV1/FVC≥70%, n=144) according to the pulmonary function test results. Binary logistic regression analysis was used to describe the relationships between clinically relevant factors related to nasal polyp. RESULTS: On logistic regression analysis, no significant relationship was found between age [adjusted odds ratio (AOR): 1.058, 95% confidence interval for the difference (CI)=0.995-1.126, p=0.073], sex AOR: 0.897, 95% CI=0.366-2.415, p=0.897), smoking (AOR: 0.434, 95% CI=0.154-1.219, p=0.113) and obesity (underweight AOR: 3.833, 95% CI=0.781-18.808, p=0.098, overweight AOR: 5.169, 95% CI=0.996-26.814, p=0.051, obese AOR: 2.911, 95% CI=0.335-25.329, p=0.333) with polyp. However, there was a negative correlation between COPD history and nasal polyp with statistical significance (AOR: 0.288, 95% CI=0.102-0.809, p=0.018). CONCLUSION: Our findings suggest that patients with COPD are less likely to have nasal polyp than patients without COPD.
Aged* ; Humans ; Logistic Models ; Middle Aged* ; Nasal Polyps* ; Obesity ; Odds Ratio ; Overweight ; Polyps ; Pulmonary Disease, Chronic Obstructive* ; Respiratory Function Tests ; Sinusitis ; Smoke ; Smoking ; Vital Capacity

PURPOSE: Lymphedemas are tissue fluid swellings, usually on the arms or legs, and occur as a result of impaired lymphatic drainage. Presently, the most effective treatment available is complete decongestive physiotherapy (CDP). However, this therapy is ineffective in some patients and surgery may be indicated. Herein, we examined the efficacy of minimally invasive needle aspiration of the most enlarged areas in hypodermic adipose tissues, of patients who had failed CDP. METHODS: We included 21 patients who were diagnosed with lymphedema stage II-III in the upper or lower extremities and visited the lymphedema clinic at a university hospital from September 1, 2003 to February 28, 2004. All patients had been treated with CDP at least once, but had failed to respond to the therapy for more than one year. Nine patients had breast cancer and 12 had cervical cancer. We identified the area with the most severe edema by using MRI and performed a 16-gauge angio-needle aspiration on the area. The patients were followed up for 3 months. Effectiveness of the treatment was evaluated by comparing the volume of edema before and after the treatment using Wilcoxon signed rank-test. RESULTS: The mean reduction ratio of the volume of edema comparison normal volume was 41.1+/-35.3% (P=0.001). There were no major or minor operative complications except localized hemorrhage. CONCLUSION: We conclude that a needle aspiration prior to other surgical treatments is relatively safe and effective for those patients who are unresponsive to CDP.
Arm ; Breast Neoplasms ; Cytidine Diphosphate ; Drainage ; Edema ; Hemorrhage ; Humans ; Leg ; Lower Extremity ; Lymphedema ; Needles ; Uterine Cervical Neoplasms

PURPOSE: To evaluate brain MRI findings of spontaneous intracranial hypotension. MATERIALS AND METHODS: A retrospective review of MRI findings was conducted on six patients with clinically proven spontaneous intracranial hypotension ; no patient had history of previous spinal puncture. Follow-up MRI was available in two patients, and to detect CSF leakage, radionuclide cisternography (n=5), myelography (n=1), and MR myelography (n=1) were performed. RESULTS: On contrast-enhanced T1WI, diffuse dural enhancement was seen in all cases, subdural hematoma or hygroma was seen in four cases, pituitary gland prominence in four, dural sinus dilatation in four, downward displacement of cerebellar tonsil in two, downward displacement of iter in one, and suprasellar and prepontine cistern effacement in two. In no patient was abnormal CSF leakage found. CONCLUSION: Although dural enhancement, as seen on MRI, is not specific, diffuse enhancement of dura matter accompanying by subdural hematoma, hygroma, pituitary gland prominence, dural sinus dilatation, downward displacement of the cerebellar tonsil, or suprasellar and prepontine cistern effacement can strongly suggest intracranial hypotension.
Brain* ; Dilatation ; Follow-Up Studies ; Hematoma, Subdural ; Humans ; Intracranial Hypotension* ; Lymphangioma, Cystic ; Magnetic Resonance Imaging* ; Myelography ; Palatine Tonsil ; Pituitary Gland ; Retrospective Studies ; Spinal Puncture

BACKGROUND: We report a case of a spray painter who developed malignant fibrous histiocytoma (MFH) of the maxillary sinus following long-term exposure to chromium, nickel, and formaldehyde, implying that these agents are probable causal agents of MFH. CASE REPORT: The patient developed right-sided prosopalgia that began twenty months ago. The symptom persisted despite medical treatment. After two months, he was diagnosed with MFH through imaging studies, surgery, and pathological microscopic findings at a university hospital in Seoul. His social, medical, and family history was unremarkable. The patient had worked for about 18 years at an automobile repair shop as a spray painter. During this period, he had been exposed to various occupational agents, such as hexavalent chromium, nickel, and formaldehyde, without appropriate personal protective equipment. He painted 6 days a week and worked for about 8 hours a day. Investigation of the patient's work environment detected hexavalent chromium, chromate, nickel, and formaldehyde. CONCLUSIONS: The study revealed that the patient had been exposed to hexavalent chromium, formaldehyde, and nickel compounds through sanding and spray painting. The association between paranasal cancer and exposure to the aforementioned occupational human carcinogens has been established. We suggest, in this case, the possibility that the paint spraying acted as a causal agent for paranasal cancer.
Automobiles* ; Carcinogens ; Chromium ; Formaldehyde ; Histiocytoma, Malignant Fibrous* ; Humans ; Maxillary Sinus* ; Nickel ; Occupational Exposure ; Paint ; Paintings ; Seoul ; Silicon Dioxide

BACKGROUND: Agent Orange (AO) is the code name for one of the herbicides and defoliants used in the Vietnam War. Studies conducted thus far show a significant correlation between AO and the occurrence of cardiovascular diseases. But there is little data on the association between AO and stroke, and limited studies have targeted patient groups exposed to AO. METHOD: Bohun medical center Institutional Review Board (IRB) approved the study. (ID: 341) We studied patients with acute ischemic stroke within 7 days of onset in VHS medical center and 4 other general hospitals. Among them, 91 consecutive patients with previous exposure to AO were evaluated. For controlled group, 288 patients with no history of AO exposure were chosen. RESULT: There were 49 (44.0 %) DM patient with a higher frequency in the exposure group (93 (32.3 %) in control P = 0.045). There were 6 (6.6 %) hyperlipidemia in exposure group and 69 (24.0 %) in control. (P < 0.002). Small vessel occlusion was the most common subtype (36, 39.6 %) in exposure group but in control group, the large artery atherosclesosis was (120, 41.7 %) (P = 0.014). The NIHSS of the exposure group on admission showed lower scores (median values, 2 and 4, respectively; P = 0.003). The median mRS was 1 for the exposure group and 2 for the control group, at discharge and after 3 months. After 3 months of discharge, 55 (60.4 %) in the exposure group and 171 (59.4 %) in the control group showed below mRS 1 (P = 0.001). CONCLUSION: This study targeted patients who are Vietnam veteran. There is some difference in vascular risk factors and clinical manifestations suggest AO exposure has contributed to a certain extent to the stroke.
Arteries ; Cardiovascular Diseases ; Cerebral Infarction* ; Citrus sinensis* ; Ethics Committees, Research ; Herbicides ; Hospitals, General ; Humans ; Hyperlipidemias ; Methods ; Prognosis* ; Risk Factors ; Stroke ; Veterans ; Vietnam

Background: Considering the importance of the inflammatory status of recipients on outcomes following liver transplantation (LT), we investigated the association between C-reactive protein-to-albumin ratio (CAR) and one-year mortality following LT and compared it with other parameters reflecting patients’ underlying inflammatory status. Methods: A total of 3,614 consecutive adult LT recipients were retrospectively evaluated. Prognostic parameters were analyzed using area under the receiver operating characteristic curve (AUROC) analysis, and subsequent cutoffs were derived. For survival analysis, Cox proportional hazards and Kaplan-Meier analyses were performed. Results: The AUROC for CAR to predict one-year mortality after LT was 0.68 (0.65–0.72), which was the highest compared with other inflammatory parameters, with the best cutoff of 0.34. A CAR ≥ 0.34 was associated with a significantly higher one-year mortality rate (13.3% vs. 5.8 %, log-rank P < 0.001) and overall mortality rate (24.5% vs. 12.9%, log-rank P = 0.039). A CAR ≥ 0.34 was an independent predictor of one-year mortality (hazard ratio, 1.40 [1.03–1.90], P = 0.031) and overall mortality (hazard ratio 1.39 [1.13–1.71], P = 0.002) after multivariable adjustment. Conclusions Preoperative CAR (≥ 0.34) was independently associated with a higher risk of one-year and overall mortality after LT. This may suggest that CAR, a simple and readily available biomarker, maybe a practical index that may assist in the risk stratification of liver transplantation outcomes.

The principal aim of this study was to determine the effects of antipsychotics (haloperidol, sulpiride, and clozapine) on regulating dopamine (DA) D1 and D2 receptor mRNA levels in the rat caudate putamen (CPu), nucleus accumbens (NAc), and olfactory tubercle (OTu). Twenty male Sprague-Dawley rats (250 g) were treated with haloperidol (1mg/mL), sulpiride (40 mg/mL), clozapine (20 mg/mL), and the control group received only water. Drugs were administered orally for 4 weeks. Antipsychotic drugs had differential effects on DA D1 and D2 receptor gene expression. Haloperidol and sulpiride induced an increase of DA D1 and D2 receptor mRNA levels in the rat CPu, OTu, and NAc; haloperidol caused a greater increase than sulpiride. However, clozapine treatment had less effect on DA receptor mRNAs levels in the same area. Antipsychotic drugs differentially upregulated the expression of DA D1 and D2 receptor mRNAs in the rat brain. These changes may be related, at least in part, to changes of DA concentration following antipsychotics treatment.
Animals ; Antipsychotic Agents* ; Brain* ; Clozapine ; Dopamine* ; Gene Expression ; Haloperidol ; Humans ; In Situ Hybridization ; Male ; Nucleus Accumbens ; Olfactory Pathways ; Putamen ; Rats* ; Rats, Sprague-Dawley ; Receptors, Dopamine ; RNA, Messenger* ; Sulpiride ; Water

Clopidogrel, a thienopyridine derivative, is an anti-platelet agent that acts as an antagonist of the platelet adenosine diphosphate receptor and considered for essential prophylaxis for intracoronary stent thrombosis in the treatment of ischemic heart disease. Clopidogrel is considered as safe as aspirin but a few cases of severe hematologic adverse reactions associated with clopidogrel had been reported such as neutropenia, aplastic anemia, thrombocytopenic purpura, and thrombocytopenia. We report a rare case of neutropenia induced by clopidogrel in chronic renal failure in a patient who underwent percutaneous coronary intervention.
Adenosine Diphosphate ; Anemia, Aplastic ; Aspirin ; Blood Platelets ; Humans ; Kidney Failure, Chronic ; Myocardial Ischemia ; Neutropenia ; Purpura, Thrombocytopenic ; Pyridines ; Stents ; Thrombocytopenia ; Thrombosis ; Ticlopidine