No abstract available.
Anemia, Iron-Deficiency* ; Erythrocyte Indices* ; Iron*

No abstract available.

PURPOSE: Deletion of chromosome 22q11 is associated with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. This study was performed to determine the criteria of clinical phenotype as recognizable syndrome and to research the loss of heterozygosity in CATCH 22 patients and their family. METHODS: An evaluation of the clinical and genetic profiles of 30 persons of CATCH 22 syndrome or their family referred with a diagnosis of either congenital heart disease or cleft palate was undertaken. The deletions of 22q11 were analyzed using the fluorescences in situ hybridization(N25, Oncor) and short tandem-repeat polymorphic makers(STRP, D22S941). RESULTS: The dysmorphic features of CATCH 22 showed considerable overlap and intrafamilial difference was common. The familial cases of CATCH 22 were transmitted maternally as autosomal dominant. The target gene study using the STRP maker(D22S941) in these series showed good clinico-genetic correlation but some heterogeneity. CONCLUSION: Although 22q11 deletion was large in size and high variable in polymorphic markers, extensive evaluation clinically as well as genetically will be necessary for subgrouping of CATCH 22 syndrome due to good clinicogenetic correlation. Furthermore, we also suggest the development of new polymorphic markers to research the unknown characteristics of polymorphic markers in Korean patients with CATCH 22 syndrome.
Cleft Palate ; Diagnosis ; DiGeorge Syndrome ; Heart Defects, Congenital ; Humans ; Loss of Heterozygosity ; Phenotype ; Population Characteristics

No abstract available.
Heart Atria*

No abstract available.
Aconitum* ; Arrhythmias, Cardiac* ; Cardiopulmonary Resuscitation*

No abstract available.
Catheters* ; Cystic Adenomatoid Malformation of Lung, Congenital* ; Fetal Therapies* ; Lung*

BACKGROUND: Several methods have been used to evaluate the engraftment and to monitor residual disease after bone marrow transplantation (BMT). Among them, karyotyping have been useful in gauging engraftment following opposite sex BMT. More recently, fluorescence in situ hybridization (FISH) has also been applied to determine engraftment and residual status. In order to establish the utility of this method in clinical practice, we have evaluated the data from FISH and several methods. METHODS: We performed FISH using chromosome X alpha-satellite probe (Oncor , USA) on twenty eight peripheral blood and nine bone marrow nuclear cells from eleven patients who underwent sex mis-matched transplant and from a patient who had a loss of X chromosome. RESULTS: In nine patients with well engrafted BMT, signals of host cells showed less than 5% in all patients, evaluated 21-210 days post-transplant. Mixed chimerism was detected in six patients; transiently in early post-transplant period in four, in a patient with engraftment failure, and in a patient with relapse, respectively. CONCLUSION: FISH using X probe is a rapid, quantitative and sensitive 'interphase cytogenetic method' for the evaluation of engraftment and monitoring of residual disease following sex mis-matched BMT or BMT in a patient with a loss of X chromosome; It is especially useful in early post-transplant period when ony a few cells are available during severe cytopenia.
Bone Marrow Transplantation* ; Bone Marrow* ; Chimerism ; Cytogenetics ; Fluorescence* ; Humans ; In Situ Hybridization* ; Karyotyping ; Recurrence ; X Chromosome

Limited data are available on improved outcomes after initiation of neurointensivist co-management in neurosurgical intensive care units (NSICUs) in Korea. We evaluated the impact of a newly appointed neurointensivist on the outcomes of neurosurgical patients admitted to an intensive care unit (ICU). This retrospective observational study involved neurosurgical patients admitted to the NSICU at Samsung Medical Center between March 2013 and May 2016. Neurointensivist co-management was initiated in October 1 2014. We compared the outcomes of neurosurgical patients before and after neurointensivist co-management. The primary outcome was ICU mortality. A total of 571 patients were admitted to the NSICU during the study period, 291 prior to the initiation of neurointensivist co-management and 280 thereafter. Intracranial hemorrhage (29.6%) and traumatic brain injury (TBI) (26.6%) were the most frequent reasons for ICU admission. TBI was the most common cause of death (39.0%). There were no significant differences in mortality rates and length of ICU stay before and after co-management. However, the rates of ICU and 30-day mortality among the TBI patients were significantly lower after compared to before initiation of neurointensivist co-management (8.5% vs. 22.9%; P = 0.014 and 11.0% vs. 27.1%; P = 0.010, respectively). Although overall outcomes were not different after neurointensivist co-management, initiation of a strategy of routine involvement of a neurointensivist significantly reduced the ICU and 30-day mortality rates of TBI patients.
Brain Injuries ; Cause of Death ; Critical Care Outcomes ; Critical Care* ; Humans ; Intensive Care Units* ; Intracranial Hemorrhages ; Korea ; Mortality ; Neurosurgery ; Observational Study ; Retrospective Studies

PURPOSE: Toxicity caused by acetaminophen and its toxic mechanisms in the liver have been widely studied, including effects involving metabolism and oxidative stress. However, its adverse effects on heart have not been sufficiently investigated. This study evaluated the cardiac influence and molecular events occurring within the myocardium in rats treated with a dose of acetaminophen large enough to induce conventional liver damage. MATERIALS AND METHODS: Male rats were orally administered a single dose of acetaminophen at 1,000 mg/kg-body weight, and subsequently examined for conventional toxicological parameters and for gene expression alterations to both the heart and liver 24 hours after administration. RESULTS: Following treatment, serum biochemical parameters including aspartate aminotransferase and alanine aminotransferase were elevated. Histopathological alterations of necrosis were observed in the liver, but not in the heart. However, alterations in gene expression were observed in both the liver and heart 24 hours after dosing. Transcriptional profiling revealed that acetaminophen changed the expression of genes implicated in oxidative stress, inflammatory processes, and apoptosis in the heart as well as in the liver. The numbers of up-regulated and down-regulated genes in the heart were 271 and 81, respectively, based on a two-fold criterion. CONCLUSION: The induced expression of genes implicated in oxidative stress and inflammatory processes in the myocardium reflects molecular levels of injury caused by acetaminophen (APAP), which could not be identified by conventional histopathology.
Acetaminophen/*toxicity ; Administration, Oral ; Analgesics, Non-Narcotic/*toxicity ; Animals ; Drug-Induced Liver Injury/pathology/*physiopathology ; Gene Expression Profiling ; Heart/*physiology ; Liver/pathology/physiology ; Male ; Myocardium/pathology ; Rats ; Transcriptome/*drug effects

PURPOSE: The aim of this study is to assess the cardiac effect of long-term steroid therapy in nephrotic syndrome and the validity of LV functional parameters as an early predictor of subclinical cardiac dysfunction. METHODS: The study group was composed of 21 patients diagnosed as minimal change nephrotic syndrome(NS), being managed with prednisone over 6 months or within 6 weeks after stopping medication. The control group was composed of 23 healthy children without cardiopulmonary dysfunction. The functional parameters of the left ventricle, including systolic and diastolic indices were measured using 2D-doppler echocardiography. RESULTS: There was a significant increase of left ventricular mass index in the study group(P value<0.05). Isovolumetric relaxation time of the left ventricle was prolonged significantly in the study group(P value<0.05). The systolic phase area and the ratio of systolic and diastolic phase area of pulmonary vein flow profile were increased significantly in the study group(P value<0.05). CONCLUSION: In NS patients managed with long-term steroid therapy, left ventricular diastolic functional abnormality may be present even though functional limitation is not yet evident. In the future, the longitudinal study will be needed conderning the cardiac effect of long-term steroid treatment.
Child ; Echocardiography ; Heart Ventricles ; Humans ; Longitudinal Studies ; Nephrotic Syndrome* ; Prednisone ; Pulmonary Veins ; Relaxation