No abstract available.
Skin*

A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.1). Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1-->qter. Because 8p21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.
Chromosome Deletion ; Chromosomes, Human, Pair 8 ; Constitution and Bylaws ; Fathers ; Female ; Fetal Growth Retardation ; Foot ; Hand ; Heart Septal Defects, Atrial ; Humans ; Hydronephrosis ; Hypospadias ; Lymphocytes ; Macrophages ; Male ; Mothers ; Neck ; Pulmonary Valve Stenosis ; Trisomy

PURPOSE: Although eosinophilia is a common laboratory finding in many neonatal intensive care units (ICUs), its causative mechanisms remain obscure. We aimed to determine the causes of eosinophilia in the neonatal ICU environment. METHODS: Serial eosinophil counts were determined weekly for 288 hospitalized, appropriately grown neonates. Infants were divided into four groups according to gestational age, and the incidence and etiologic factors of eosinophilia were retrospectively studied. RESULTS: Absolute eosinophilia (>700/mm3) was documented in 18% (52/288) of neonates. Twenty-two infants (42.3%) exhibited mild eosinophilia (700-999 cells/mm3), 27 (51.9%) exhibited moderate eosinophilia (1,000-2,999 cells/mm3), and 3 (5.8%) exhibited severe eosinophilia (>3,000 cells/mm3). Of the 288 infants studied, 54 suffered sepsis. Thirty of these 54 infants (55.6%) showed eosinophilia, and 22 out of the remaining 234 infants (9%) without sepsis showed eosinophilia, indicating that eosinophilia was more prevalent in the sepsis group (P <0.05). All 5 infants suffering from bronchopulmonary dysplasia showed eosinophilia, and 47 out of the remaining 283 infants (16.7%) without bronchopulmonary dysplasia showed eosinophilia. Thus, eosinophilia was more prevalent in the bronchopulmonary dysplasia group (P <0.05). Furthermore, increased prevalence of eosinophilia was associated with respiratory distress syndrome, ventilator use, blood transfusion, and total parenteral nutrition (P <0.05). CONCLUSION: Our results suggest that eosinophilia is influenced by sepsis and bronchopulmonary dysplasia, although it can also occur idiopathically at birth. Moreover, the potential role of eosinophils in conditions such as wound healing and fibrosis in sepsis or chronic lung disease may be a cause of eosinophilia.
Blood Transfusion ; Bronchopulmonary Dysplasia ; Eosinophilia ; Eosinophils ; Fibrosis ; Gestational Age ; Humans ; Incidence ; Infant ; Infant, Newborn ; Intensive Care Units, Neonatal ; Intensive Care, Neonatal ; Lung Diseases ; Parenteral Nutrition, Total ; Parturition ; Prevalence ; Retrospective Studies ; Sepsis ; Stress, Psychological ; Ventilators, Mechanical ; Wound Healing

Activation of the sympathetic nervous system in mediating the stress response attends traumatic brain injury. Plasma dopamine(DA), epinephrine(E), norepinephrine(NE) levels were measured in 26 severe traumatically brain injured patients to determine whether catecholamine levels obtained within 24 hours after injury provide reliable prognostic endogenous markers of outcome. Patient outcome was determine at 1 week using the Glasgow Coma Scale(GCS) and at the time of discharge the Glasgow Outcome Scale(GOS), 7 patients with diseases except those with a severe traumatic brain injury were selected as a control group. Firstly, we analyzed the difference of the average DA, E, and NE between the control group and severe traumatic brain injury patients. Secondly, we analyzed the difference of the average catecholamine levels in the 3 groups according to admission GCS scores(respectively 3~4, 5~7, 8~9). Third, we analyzed the difference of the average catecholamine levels in the 5 groups according to GOS scores at 1 week(respectively dead, 3~4, 5~7, 8~11, >11). Finally, we analyzed the difference of the average catecholamine levels in the 5 groups according to GOS at the time of discharge. As a result, there was no statical difference between the level of DA in the control group and those of the severe brain injury patients. But the level of E an NE in the experimental group were higher than the control group(respectively p<0.03, p<0.04). The admission GCS score correlated highly with the catecholamine levels(NE : r=0.69, p<0.001 ; E ; r=0.42, p<0.03 ; DA ; r=0.42, p<0.03). In patients with admission GCS of 3 to 4, NE levels increaed fourfold above other group(p<0.005). In the 13 patients with GCS scores of 3 or 4 on admission. NE levels predicted outcome at 1 week. All two patients with NE levels less then 750 pg/ml were survived, while 10 of 11 with NE levels greater than 750 pg/ml were died(p<0.02). The levels of NE was significantly higher in patients who died than in those with better outcome(p<0.02). Therefore, these findings indicated that the level of circulating NE is an excellent endogenous marker that appear to reflect the extent of brain injury and that may predict the likelihood of recovery.
Brain ; Brain Injuries* ; Coma ; Dopamine ; Epinephrine ; Humans ; Negotiating ; Norepinephrine ; Plasma* ; Prognosis* ; Sympathetic Nervous System

During the eleven months from September, 1989 to July, 1990, a total of 118 subarachnoid hemorrhage(SAH) patients were admitted. Among these, in 2 cases, the etiology was unknown and another 8 cases of Hunt & Hess clinical grade V patients died in the emergency room or intensive care unit within 24 hours after admission. The remaning 108 cases were managed with protocol as follows. 1) Surgery was done within 9 days after the SAH(total 67 cases) : Extraventricular drainage(EVD) was performed and a cisternal drainage(CD) catheter was positioned during surgery. EVD, CD nimodipine irrigation(0.4mg) through the CD catheter, and intravenous injection(IV) of nimodipine(1~2mg/hr)continued for 13days after the SAH. 2) Surgery was done after the 9th SAH day due to late transfer neurology or other hospitals or posterior circulation aneurysms(32 cases), and 9 cases refused surgery : Nimodipine was used orally(240mg/day) in 35 cases and an IV route(1~2mg/hr) in 6 cases. Total management outcome and results were obtained as follows. 1) A total unsatisfactory management outcome was 18.52%(serve disabled : 4.63%, vegetative : 0.93%, death : 12.96%. In the surgical cases only, 40.8%, 1.02%, 9.19%, respectively). 2) An unsatisfactory surgical outcome in cases following surgery after the 9th SAH day was 6.24%(severe disabled : 3.12%, death : 3.12%). 3) An unsatisfactory management outcome in cases of admission grades I & II following surgery within the 9th SAH day or those non-surgical patients was 19.15%(severe disabled : 4.25%, death : 14.89%. In surgical cases only 2.33%, 9.30%, respectively). 4) An unsatisfactory management outcome in cases of admission grades III & IV with surgery within the 9th SAH day or non-surgical patients was 29.63%(severe disabled : 7.41%, vegetative : 3.70%. death : 18.52%. In surgical cases only 9.09%, 4.55%, 13.64%, respectively). One case of admission grade V died. 5) Causes of unsatisfactory outcome were vasospasm : 9 cases(8.33%), SAH itself : 4 cases, rebleeding : 3 cases, surgical complication : 1 case, medical complication : 1 case, anesthesia : 1 case, and head trauma : 1 case. 6) Complications in management protocol with EVD, CD, CD nimodipine irrigation, and IV of nimodipine were transient hypotension(1 case) and meningitis(5 cases). These complications were improved without sequelae with discontinuing the IV of nimodipine and using antibiotics. We concluded that this protocol may improved the total management outcome of aneurysmal SAH patients, especially poor grade patients(Hunt & Hess grade III & IV) without significant complications. However, in spite of this protocol, the leading cause of an unsatisfactory outcome is vasospasm.
Anesthesia ; Aneurysm ; Anti-Bacterial Agents ; Catheters ; Craniocerebral Trauma ; Drainage* ; Emergency Service, Hospital ; Humans ; Intensive Care Units ; Intracranial Aneurysm* ; Neurology ; Nimodipine*

OBJECTIVES: Metabolic and endocrinologic alterations is developed at menopausal transition of women and these alterations can have an effect on prevalence of metabolic syndrome. Therefore, we evaluated the prevalence of metabolic syndrome and differences of components as menopausal status of women who visited our health screening clinic. METHODS: We surveyed body sizes, blood pressures and other several blood tests from January 2006 to December 2010 in Pusan National University Hospital by retrospectively reviewing medical records. These results were compared as presence of metabolic syndrome and menopausal status. Differences of the components of metabolic syndrome as the menopausal status and occurrences of metabolic syndrome as the age and the menopausal status are investigated. RESULTS: In premenopausal and postmenopausal women, the prevalence of metabolic syndrome were 8.69% and 21.85%, respectively. More body weight, high body mass index and cholesterol were checked in women who have metabolic syndrome irrespective of menopausal status. Low high density lipoprotein was most prominent component of metabolic syndrome irrespective of menopausal status. Hypertension and high blood sugar were showed meaningful proportions in postmenopausal women. The prevalence of metabolic syndrome was unrelated to the menopausal status by regressively analyze, but meaningfully increased related to aging. CONCLUSION: Menopausal alterations restrictively effect on occurrence of metabolic syndrome and aging is more effect on it. But more detailed and additional studies are needed about determining the relation of metabolic syndrome in women who surgically menopaused and receiving hormone therapy.
Aging ; Blood Glucose ; Body Mass Index ; Body Size ; Body Weight ; Cholesterol ; Female ; Hematologic Tests ; Humans ; Hypertension ; Lipoproteins ; Mass Screening ; Medical Records ; Menopause ; Prevalence ; Retrospective Studies

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance. They were diagnosed DM1 by genetic method. They were complicated by chylothorax and expired at 100 and 215 days of age, respectively. Mother was diagnosed DM1 during the evaluation of babies. This is the first report on congenital DM1 which accompanied the chylothorax. More investigation on the association with chylothorax and congenital DM1 is recommended. With a case of severe neonatal hypotonia, congenital DM1 should be differentiated in any gestational age. Finally, since DM1 is a cause of infertility, we should consider DM1 in infertility clinic with detailed history and physical examination.
Adult ; Apnea/etiology ; Blotting, Southern ; Chylothorax/complications ; Female ; Fertilization in Vitro ; Humans ; Infant, Newborn ; Infant, Premature ; Microsatellite Repeats/genetics ; Muscle Hypotonia/etiology ; Myotonic Dystrophy/complications/*diagnosis/radiography ; Twins

Heteroplasmy in the hypervariable region 1 of the mtDNA was screened using DGGE. Blood samples from 150 unrelated Koreans were used. Appropriate condition was set up using mixed samples with previously known HV1 sequences. This method is capable of detecting heteroplasmic proportion less than 5 %. Multiple bands pattern meaning heteroplasmy was observed in 41 individuals (27.3%). The majority of heteroplasmic variants could not be detected by direct sequencing of PCR products. For the distribution pattern of heteroplasmy in different tissues within one individual, 14 autopsy cases were screened. Out of these, two were heteroplasmic, but there was no difference between various tissues in the heteroplasmic DGGE band pattern.
Asian Continental Ancestry Group ; Autopsy ; DNA, Mitochondrial* ; Humans ; Polymerase Chain Reaction

PURPOSE: Heart rate variability (HRV) is a tool used to measure autonomic nervous function; however, there is no evidence that it can be used to define sympathetic hyperactivity in men with lower urinary tract symptoms (LUTS). We suspected that LUTS would differ between sympathetic hyperactive and hypoactive patients. Therefore, we measured HRV and divided the LUTS patients into two groups, a sympathetic hyperactive group and a sympathetic hypoactive group according to the low frequency/high frequency (LF/HF) ratio and made clinical comparisons between the groups. METHODS: A total of 43 patients with symptomatic LUTS (International Prostate Symptom Score [IPSS] over 8) and 49 healthy volunteers were enrolled. No subjects had diseases that could affect the autonomic nervous system, such as diabetes or hypertension. Electrocardiographic signals were obtained from subjects in the resting state and HRV indexes were calculated with spectral analyses. We divided the LUTS patients into two groups by an LF/HF ratio of 1.9, which was the median value in the healthy volunteers, and compared the differences in clinical characteristics, IPSS, prostate-specific antigen (PSA), and transrectal ultrasound (TRUS) results. The parameters were compared by independent sample t-test by use of SPSS ver. 19. RESULTS: There were no significant differences in age, serum PSA, or volume of the prostate between the 2 LUTS groups. However, analyzing IPSS questionnaires between two groups showed that there were significant differences in mean of Q2 score (frequency) and storage symptom score ([Q2+Q4+Q7]/3) (P<0.05). CONCLUSIONS: We suggest that an imbalance of autonomic nervous system activity may be a factor that evokes varieties of symptoms in men with LUTS. LUTS patients with hypoactive sympathetic tone may suffer from frequency and storage symptoms.
Autonomic Nervous System ; Electrocardiography ; Heart Rate ; Humans ; Hypertension ; Lower Urinary Tract Symptoms ; Male ; Prostate ; Prostate-Specific Antigen ; Prostatic Hyperplasia

We present 10 patients who underwent temporal lobe surgery for seizure control on our institution between December, 1992 and October, 1994. Preoperative neuroimaging studies of all 10 patients showed calcified mass lesions within the temporal lobe. Among them, 5 cases had mesial temporal calcified mass close to the hippocampus, 3 diffuse mass in the temporal lobe or multilobes and 2 in the temporal tip. All patients presented with complex partial seizure and seven had secondary generalization from their seizures. The duration of epileptic seizure varied between 4 and 23 years(mean 13 year). The patients were refractory to therapeutic levels of anticonvulsant medication. Presurgical evaluations of epilepsy included a detailed clinical history, multiple scalp/shenoidal EEG, prolonged Video-EEG monitoring, neuroimaging, neuropsychological test, WADA test and invasive study with subdural strip electrodes. Anterior temporal lobectomy with lesionectomy were performed in six cases and anterior temporal lobectomy in four cases using intraoperative electrocorticography(EcoG) and/or functional mapping under local or general anesthesia. The extent of resection of amygdala and hippocampus were determined according to electrocorticographic findings. The verified histopathology of the calcified lesions revealed 1 oligodendroglioma, 1 mixed glioma, 1 arterioveous malformation, 1 paragonimiasis, 2 neurocysticercosis, 1 other parasitic granuloma and 3 calcified fibrous nodule. In four patients, severe hippocampal sclerosis with neuronal cell loss and gliosis were observed. After a mean postoperative follow-up of 9 months, 9 patients showed a seizure-free outcome and one patient a significant reduction in seizure activity. We conclude from our studies that temporal lobe surgery for patients refractory to therapeutic levels of long-term anticonvulsant medication can result in excellent postoperative seizure-free outcome in the majority of the patients, and that brain tumors, vascular malformations, and parasitic infections may be considered as etiologic factors of calcified mass lesions in the temporal lobe of such patients.
Amygdala ; Anesthesia, General ; Anterior Temporal Lobectomy ; Brain Neoplasms ; Electrodes ; Electroencephalography ; Epilepsy* ; Follow-Up Studies ; Generalization (Psychology) ; Glioma ; Gliosis ; Granuloma ; Hippocampus ; Humans ; Neurocysticercosis ; Neuroimaging ; Neurons ; Neuropsychological Tests ; Oligodendroglioma ; Paragonimiasis ; Sclerosis ; Seizures ; Temporal Lobe* ; Vascular Malformations