The Holt-Oram syndrome or cardiomelic syndrome is characterized by the association of upper limb and heart malformations. Most frequently, abnormalities of the thumb and secundum atrial septal defects are associated with the disease. The mode of inheritance is autosomal dominant. The etiology of this disease is unknown but is most likely of multifactorial origin. Here we report a case Holt-Oram syndrome with affected mother which was diagnosed at 18th gestational weeks by prenatal ultrasonograpy. Fetal ultrasonography revealed abnormalities of upper limbs, and heart. The upper limbs were shorter than normal, syndactyly of both hands were seen and both wrists were markedly angulated. Ventricular septal defect was suspicious. After genetic counselling her pregnancy was terminated at 22nd gestational week.
Hand ; Heart ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Mothers* ; Pregnancy ; Syndactyly ; Thumb ; Ultrasonography* ; Ultrasonography, Prenatal ; Upper Extremity ; Wills ; Wrist

This study was performed to assess the accuracy of 31P magnetic resonance spectroscopy(MRS) in the evaluation of myocardial ischemia in cats. Twelve cats underwent myocardial ischemia and reperfusion induced by 90 minutes ligation followed by 90 minutes recirculation of the left anterior descending coronary artery (LAD). MRS was performed using a 4.7T Biospec MRS/MRI system (Bruker, Switzerland). An inner diameter 1.5cm-sized doubly tuned surface coli was used for the collection of the MR signal. The coli was implanted to the epicardial surface at the expected area of infarction. 31P MRS was acquired before and during the periods of ischemia and reperfusion with 5-minute to 30-minute of intervals. After completion of the 31P MRS study, animals were sacrificed and the hearts were excised for 2,3,5-triphenyl tetrazolium chloride (TTG0 histochemical staining. The area of infarct was measured on the photographs of TTG stained heart slices using a computer programmed planimetry and the results were compared with those of the 31P MRS study. The level of phosphocreatine (PCr) was decreased to 28.2±6.9% of the baseline level 90 minutes after occlusion and recovered to 43.8±4.8% of the baseline level at the end of the reperfusion. A 50% depletion of PCr was reached 5 minutes after the LAD occlusion. The ATP was decreased to a 26.6±3.6% of the baseline level 90 minutes after occlusion and recovered to a 35.9±6.0 of the baseline level 90 minutes after reperfusion. The decreasing rate of ATP was slower than that of PCr showing a 50% of depletion 15 minutes after occlusion. The PCr/ATP ratio was 1.16±0.09 at the baseline, decreased to 0.88±0.07 at 30 minutes of occlusion, and then progressively increased during the late ischemic and reperfused periods. The ratio of the infarcted area to the effective signal area of the surface coli was inversely correlated to the ATP (r=0.68) and PCr (r=0.40) levels obtained at the end of reperfusion. In conclusion, 31P MRS reflects the changes in myocardial high energy phosphorous metabolism during the actue ischemia and reperfusion. If on adequate localization technique is feasible, 31P MRS can be used clinically in the diagnosis and monitoring of the patients with acute myocardial infarction.
Adenosine Triphosphate ; Animals ; Cats* ; Coronary Vessels ; Diagnosis ; Heart ; Humans ; Infarction ; Ischemia ; Ligation ; Metabolism ; Myocardial Infarction* ; Myocardial Ischemia ; Phosphocreatine ; Polymerase Chain Reaction ; Reperfusion ; Spectrum Analysis*

BACKGROUND: Reestabilshment of blood flow is a standard therapeutic modality to salvage the myocardium at risk in an acute phase of myocardial infarction. However, there are significant evidences that reperfusion per se may injure the potentially viable myocardium, and a number of pharmacological agents were tried to reduce this reperfusion injury. Adenosine, an endogenous vasodilator, is suggested to reduce repergusion inury. To evaluate the myocardial protective effect of adenosine, magnetic resonance spectroscopy with superscript P was applied to feline model of acute myocardial ischemia-reperfusion, as well as pathological examination. METHODS: Effects of adenosine on the recovery of high energy phosphorous metabolites during 90 minutes of reperfusion period following 90 minutes of left anterior descending coronary artery ligation were assessed by31P spectroscopy in 27 cats(10: control group, 8: adenosine I group, 9: adenosine II group). In adenosine groups 0.2 mg/kg/min of adenosine was infused intravenously for 90 minutes from 30 miniutes before reperfusion in group I, and from just before reperfusion in group II. The experiments were performed on a 4.7 T/30 cm Biospec MRS/MRI system and the MR signals were obtained by using inner-diameter 1.5 cm-sized doubly tuned surface coil. The size of the spectral peaks was measured by area integration method. RESULTS: 1) Phosphocreatine(PCr) decreased rapidly with progression of ischemia, and recovered in reperfusion period in each group. PCr values in the reperfusion period were significantly higher in adenosine group than those in control group, although there was no difference between adenosine group I and II. 2) ATP decreased with progression of ischemia, and recovered in reperfusion period in each group. ATP values in the reperfusion period were significantly higher in adenosine groups than those in control group, byt there was no difference between adenosine group I and II. 3) pH decreased uniformly with progression of ischemia and recovered in reperfusion period, showing no difference between control and adenosine groups. 4) PCr/ATP ratio, representing the potential of oxidative phosphorylation, dereased with progression of ischemia and increased in reperfusion period. PCr/ATP ratio showed no difference between control, adenosine I and II groups. 5) Risk area/left ventricle ratio was not different in control and adenosine groups. Infarct size/risk area and infarct size/left ventricle ratios were smaller in adenosine II than those in control group. Howerver no significant diffence was noticed between adenosine I and control, and between adenosine I and II group. CONCLUSION: Intravenous infusion of adenosine showed the tendency of reducing the infarct size in the feline model of acute myocardial ischemia-reperfusion, and adenosine could improve significantly the recovery of high energy phosphate metabolites. This myocardial pretective effect of adenosine is considered to be present mainly in the reperfusion period.
Adenosine Triphosphate ; Adenosine* ; Coronary Vessels ; Hydrogen-Ion Concentration ; Infusions, Intravenous ; Ischemia ; Ligation ; Magnetic Resonance Spectroscopy ; Myocardial Infarction ; Myocardial Ischemia ; Myocardium ; Oxidative Phosphorylation ; Polymerase Chain Reaction ; Reperfusion ; Reperfusion Injury ; Spectrum Analysis

BACKGROUND: To evaluate the metabolic and pathological changes associated with myocardial ischemia-reperfusion, magnetic resonance spectroscopy with 31P was applied as well as pathological examination. METHODS: Effect of adenosine on the recovery of high energy phosphorous metabolites during the reperfusion period following 90 minutes of left anterior descending coronary artery(LAD) ligation was assessed by 31P spectroscopy in 13 cats(8 : control group, 5 : adenosine group). In adenosine group 0.2 mg/kg/min of adenosine was infused intravenously for 90 minutes from 30 minutes before reperfusion. The experiments were peformed on a 4.7 T/30cm Biospec MRS/MRI system(Bruker, Switzerland) and the MR signals were obtained by using innerdiameter 1.5 cm sized doubly tuned surface coil. The size of the spectral peaks was measured by area integration method. RESULTS: In control group, high energy phosphorous metabolites decreased continueously during the ischemic period revealing the lowest values at the end of the periods : 17.0% for PCr and 24.0% for ATP, PCr depleted below 50% of the baseline level immediately after the LAD ligation and ATP, after 15 minutes of ischemia. Therfore the depletion rate was faster in PCr change than in ATP. The recovery of the PCr and ATP occurred after reestablishment of blood flow showing, for example, 43.3% and 36.3% of the baseline levels after 10 minutes of reperfusion. After infusion of adenosine, there was a tendency of higher recovery rates of high energy phosphates than in control group. Recovery rates of PCr and ATP after 90 minutes of reperfusion, were 28.2%, 11.2% in control group and 38.3%, 18.6% in adnosine group, respectively. In adenosine grop, relative sizes of infarction were not statistically different from those of control group. CONCLUSIONS: 31P MRS can be used for in-vivo assessment of the changes of high energy phosphorous metablites concerning acute myocardial ischemia and reperfusion. Adenosine infusion improves the recovery of ATP and PCr during the reperfusion period following acute ischemia.
Adenosine Triphosphate ; Adenosine* ; Animals ; Cats* ; Infarction ; Ischemia ; Ligation ; Magnetic Resonance Spectroscopy ; Myocardial Ischemia ; Phosphates ; Polymerase Chain Reaction ; Reperfusion ; Spectrum Analysis

BACKGROUND: This research is to find out the object of Medical Phone Counsel rational and satisfactory by investigating in local clinic the actual state of Medical Phone Counsel, which is a form of medical care between doctor and patient, and by grasping the difference of expectation and recognition between doctor and patient on Medical Phone Counsel which is one of the service items of Attending Physician Registration System which is to be put into effect in near future. METHODS: This research conducted a se7-administered questionnaire targeting all practitioners to the number of forty four who gave primary care in Kangnung city from August to September in 1999, and each twenty patients Per Practitioner. This research compared and analyzed the difference of recognition between doctor and patient on the following contents of Medical Phone Counsel ; General Characteristic, Frequency, Contents, Time, Satisfiability, For or Against the Medical Phone Counsel to be executed under Attending Physician Registration System and Expectations. RESULTS: The questionnaire for doctor had a 70.5% of response rate, and the one for patient 17.2%. The 40.7% of the practitioners took a Phone Counsel actively, the 55.6% took part in Phone Counsel passively and the rest 3.7% did not participate in it. The 74.2% of them took this counsel for less than three minutes. Regarding recognition on Phone Counsel, the 48.1% of them answered that they executed it as it is their duty and the 48.4% responded that they took it reluctantly in spite of their busy business. The 3.2% answered that it is not their duty. Among those in favor of Phone Counsel under Attending Physician (or Prime Doctor) Registration System, the 28.6% agreed as it is their own duty and the 71.4% was for it subject to economic compensation. While, the 62.9% of the patients answered that they had never experienced the Phone Counsel, and the 34.4% responded that they had experienced it one or two times in a yea. Among those who had experienced Phone Counsel, the 46.4% was satisfied with it. As far as the difference of expectation and recognition between doctor and patient on Medical Phone Counsel is concerned, only 45.2% of the practitioners were in favor of Medical Phone Counsel under the Attending Physician Registration System. While, the 70.1% among the patients was in favor of its execution. These two values showed a significant difference between doctor and patient (P<0.05), And the 83.9% of the practitioners insisted that the charge should be paid against Phone Counsel and only 56.2% of the patients insisted the same. There was also a significant difference between two values. (P<0.05) CONCLUSION: The practitioners were taking part in Medical Phone Counsel at any form. To the contrary, most of the patients were not. As far as the systematization of Phone Counsel is concerned, most of the practitioners had mental reluctance if there is no economic compensation. On the other hand, most of the patients had high expectation regardless of economic matters. If Medical Phone Counsel becomes systematized, it is expected that there will be a great trouble between its supply and demand.
Commerce ; Compensation and Redress ; Hand ; Hand Strength ; Humans ; Primary Health Care* ; Surveys and Questionnaires

PURPOSE: The extent of the loss of heterozygosity (LOH) has been used as the genetic parameter for the classification and staging of some solid tumors. Breast cancers such as ductal carcinoma in situ (DCIS), and invasive and metastatic lesions, are frequently observed to contain heterogeneous tumor foci. To delineate the relation between the LOH and the progression of breast cancers, three successive histological sites in a tumor lesion were analyzed for LOH events. METHODS: We tested 111 tumor site including DCIS, and invasive, and metastatic lymph nodes from 50 breast cancers for LOH using 5 microsatellite makers on 8 chromosomal arms (3p, 4p, 5q, 8p, 9p, 13q, 17p, & 18q). RESULTS: Twenty-four of 34 breast cancers showing intratumoral histological heterogeneity had common chromosomal losses in the heterogeneous tumor sites, as well as having divergent losses that were restricted to a part of tumor lesion (mean divergent loss, 2.32). The number and frequency of heterogeneous chromosomal losses were not significantly related with age, tumor size, and stage. Overall, at least one chromosomal loss was detected in 48 cases, and incidences of LOH in each chromosome were 27.1~63.3%. A large fraction (58%) of breast cancer patients had 2 to 4 chromosomal losses, and chromosome 8p was most frequently lost (63%). When comparing the number of chromosomal losses in nine cases with all of three progressive lesions, the lost extent was greater in the DCIS (mean losses, 4.44) than in the invasive sites (mean losses, 3.1) and the metastatic lymph nodes (mean losses, 2.9). Moderate-level chromosomal losses involving 3-5 chromosomes were significantly related with lymph node metastasis (p=0.006) and the advanced tumor stage (p<0.005), whereas low-level losses involving 1~2 chromosomes and high-level losses involving 6~7 chromosomes were more common in DCIS and early-stage diseases. CONCLUSION: The DCIS, invasive, and metastatic sites of a breast cancer patient contained common and divergent chromosomal losses. This indicates the concurrent expansion of different subclones was derived from a common ancestor clone, in which an optimal range of chromosomal losses, rather than high-level chromosomal losses, was more frequently associated with lymph node metastasis and the advanced tumor stages.
Arm ; Breast Neoplasms* ; Breast* ; Carcinoma, Intraductal, Noninfiltrating ; Classification* ; Clone Cells ; Humans ; Incidence ; Loss of Heterozygosity ; Lymph Nodes ; Microsatellite Repeats ; Neoplasm Metastasis ; Population Characteristics

BACKGROUND/AIMS: Laterally spreading tumors (LST) were growthed along the colonic wall. These tumors were high malignant potential compared to colon polyp. We analyzed clinicopathological characteristics of these tumors. METHODS: From June 1996 to June 2001, twenty nine patients were diagnosed by colonoscopy. These lesions were classificated macroscopic (granular type and nongranular type) and microscopic findings. RESULTS: 20 male and 9 female were enrolled (mean age, 68.1). Among the LST, 41.4% were 20~30 mm in diameter, and 7% were larger than 30 mm. According to macroscopic findings granular types were 72.4% (21/29) and nongranular types were 27.6% (8/29). In macroscopic findings, tubular types were 48.4% (14/29), malignant changes were 31.3% (9/29). Tumor size was only significant factor in malignant potential of LST (p=0.004). Endoscopic mucosal resection was performed in 72.4% (21/29), operation in 8 (27.6%). Rate of submucosal invasion in LST was 3.4% (1/29, sm1). Recurrent rate of endoscopic treatment group was 9.5% (2/21). CONCLUSIONS: Most of LST were good indication for endoscopic treatment, but larger tumor size and irregular surface of tumor were suspected to be submucosal invasion. Therefore these lesions were performed other procedures as endoscopic ultrasound or computerized tomography for invasion depth.
Colon ; Colonoscopy ; Female ; Humans ; Male ; Polyps ; Ultrasonography

BACKGROUND/AIMS: The variceal bleeding has high rebleeding rate, and mortality rate was higher in gastrix varix. Managements of variceal bleeding were included such as drugs, endoscopic procedures, surgical management and radiological intervention. Recently histoacryl(R) injection method has been introduced. We have compared the effects of the endoscopic ligation and Histoacryl(R) injection therapy (HAI) in patient with gastric variceal bleeding. METHODS: We analyzed the effects of hemostasis, complications, rebleeding rates, and survival rates in gastric varix bleeding of 22 patients with Histoacryl(R) injection therapy and 20 patients with endoscopic ligation therapy, from January 1995 to March 1999. RESULTS: There were no difference in the complication rate between the 2 stretigies (12/14). Most common complication was chest pain in EVL group, but fever was common in HAI group. Also early and post rebleeding rates were not different in both groups. The main cause of death during follow up period was rebleeding in both groups. The survival rates were 65.0% in EVL group and 77.0% in HAI group (p>0.05, duration: 23+/-2, 28+/-4 month), and there was no difference in mortlity rate (p=0.77). CONCLUSIONS: There were no difference in the hemostatic effect, complications, rebleeding rate and survival rate in EVL group and HAI group. However, evaluation of larger numbers of patients and prospective studies were needed to define the effectiveness and complications of these therapies.
Cause of Death ; Chest Pain ; Esophageal and Gastric Varices* ; Fever ; Follow-Up Studies ; Hemorrhage* ; Hemostasis ; Humans ; Ligation* ; Mortality ; Survival Rate ; Varicose Veins

Abdominal tuberculosis usually affects the gastrointestinal tract, peritoneum, lymph nodes, liver or spleen. Tuberculosis of the spleen is uncommon, except when associated with miliary dissemination. We report a case of a 33-year-old man with tuberculosis of the accessory spleen, which was originally suspected to be a distal pancreatic tumor. He was admitted with a history of left upper quadrant abdominal pain for 3 months. Computed tomography imaging of the abdomen revealed a 4.5 cm sized poorly defined hypodense mass in the distal pancreas and showed multiple focal hypodense lesions in the enlarged spleen. We performed distal pancreatectomy and splenectomy under the preoperative expectation of a distal pancreatic tumor. Microscopic examination of the specimens revealed accessory splenic tuberculosis associated with splenic tuberculosis. Following this, he was treated with appropriate antituberculosis drugs and was discharged without any complications.
Abdomen ; Abdominal Pain ; Adult ; Gastrointestinal Tract ; Humans ; Liver ; Lymph Nodes ; Pancreas ; Pancreatectomy ; Peritoneum ; Spleen ; Splenectomy ; Splenomegaly ; Tuberculosis ; Tuberculosis, Splenic

Objective: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention, hyperactivity, and impulsivity. In contrast to neurocognitive measurements of inattention and impulsivity, there has been limited research regarding the objective measurement of hyperactivity in youths with ADHD. The purpose of the present study was to investigate the clinical effectiveness of a newly developed Robot-assisted Kinematic Measure for ADHD (RAKMA) in children with ADHD. Methods: In total, 35 children with ADHD aged 5 to 12 years and 50 healthy controls (HCs) were recruited, and the parents completed the Child Behavior Checklist and the Korean ADHD Diagnostic Scale. RAKMA performance was represented by RAKMA stimulus–response and hyperactivity variables. We compared the RAKMA performance of those with ADHD and with that of HCs and also investigated the correlation between the RAKMA variables and ADHD clinical scale scores. Results: Significant differences between the ADHD and HC groups were observed regarding most RAKMA variables, including correct reactions, commission errors, omission errors, reaction times, migration distance, and migration speed scores. Significant correlations were detected between various ADHD clinical scale scores and RAKMA variables. Conclusion The RAKMA was a clinically useful tool for objectively measuring hyperactivity symptoms in children with ADHD. Further studies with larger samples are warranted.