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

We experienced a case of Ebstein's anomaly prenatally by fetal sonography. Ebstein's anomaly is a rare congenital heart defect characterized by abnormally downward displacement of the septal and posterior leaflets of the tricuspid valve. In the absence of tricuspid regurgitation, this condition may be completely asymptomatic. On the other hand, symptomatic newborns often develop life-threatening congestive heart failure. A 30-year-old multiparous woman was referred for the evaluation of fetal cardiac defect at 26th gestational week from a private clinic. Fetal ultrasonography showed markedly enlarged right atrium and downward displacement of tricuspid valve into the right ventricle. After discussion with the patient, the pregnancy was terminated and Ebstein's anomaly was confirmed by autopsy.
Adult ; Autopsy ; Ebstein Anomaly* ; Female ; Hand ; Heart Atria ; Heart Defects, Congenital ; Heart Failure ; Heart Ventricles ; Humans ; Infant, Newborn ; Pregnancy ; Tricuspid Valve ; Tricuspid Valve Insufficiency ; Ultrasonography, Prenatal

Pernicious anemia is caused by the absence of intrinsic factor from autoimmune destruction of parietal cells. Patients with pernicious anemia are predisposed to the development of gastric cancer. We report here a case of pernicious anemia with early gastric cancer. A 65 year old woman was presented with severe anemia and glossitis. Her serum cobalamin level was low, and serologic test to anti-intrinsic factor antibody and anti-parietal cell antibody were positive. Gastroscopic examination revealed an early gastric cancer and type A atrophic gastritis. This patient underwent radical subtotal gastrectomy and received daily oral vitamin B12 replacement.
Aged ; Anemia ; Anemia, Pernicious* ; Female ; Gastrectomy ; Gastritis, Atrophic ; Glossitis ; Humans ; Intrinsic Factor ; Rabeprazole ; Serologic Tests ; Stomach Neoplasms* ; Vitamin B 12

BACKGROUND: Single nucleotide polymorphisms (SNPs), which consist of a substitution of a single nucleotide pair, are the most abundant form of genetic variations occurring with a frequency of approximately 1 per 1000 base pairs. SNPs by themselves do not cause disease but can predispose humans to disease, modify the extent or severity of the disease or influence the drug response and treatment efficacy. Single nucleotide polymorphisms (SNPs), particularly those within the regulatory regions of the genes often influence the expression levels and can modify the disease. Studies examining the associations between SNP and the disease outcome have provided valuable insight into the disease etiology and potential therapeutic intervention. Traditionally, the genotyping of SNPs has been carried out using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP), which is a low throughput technique not amenable for use in large-scale SNP studies. Recently, TaqMan real-time PCR chemistry was adapted for use in allelic discrimination assays. This study validated the accuracy and utility of real-time PCR technology for SNPs genotyping METHODS: The SNPs in promoter sequence (-37 and -524) of lung cancer suppressor gene, RRM1 (ribonucleotide reductase M1 subunit) with the genomic DNA samples of 89 subjects were genotyped using both real-time PCR and PCR-RFLP. RESULTS: The discordance rates were 2.2% (2 mismatches) in -37 and 16.3% (15 mismatches) in -524. Auto-direct sequencing of all the mismatched samples(17 cases) were in accord with the genotypes read by real-time PCR. In addition, 138 genomic DNAs were genotyped using real-time PCR in a duplicate manner (two separated assays). Ninety-eight percent of the samples showed concordance between the two assays. CONCLUSION: Real-time PCR allelic discrimination assays are amenable to high-throughput genotyping and overcome many of the problematic features associated with PCR-RFLP.
Base Pairing ; Chemistry ; Discrimination (Psychology) ; DNA ; Genes, Suppressor* ; Genetic Variation ; Genotype ; Humans ; Lung Neoplasms* ; Lung* ; Oxidoreductases ; Polymorphism, Single Nucleotide* ; Real-Time Polymerase Chain Reaction* ; Regulatory Sequences, Nucleic Acid ; Treatment Outcome

Pheochromocytoma is derived from the chromaffin tissue. The typical finding of pheochromocytoma is paroxysmal hypertension accompanied with various signs and symptoms that are due to the excess of catecholamines or other bioactive substances. Yet the diagnosis is sometimes difficult to make because its clinical presentation is quite variable. Especially, hemoptysis is a very rare symptom, so the diagnosis is often missed or delayed. Without making the correct diagnosis and then subsequently administering treatment, the condition may be fatal. We herein report on a 68 year-old woman who was admitted because of abdominal pain and hemoptysis. The initial radiologic findings suggested pulmonary edema with alveolar hemorrhage. The urine catecholamine levels were elevated and she developed catecholamine-induced cardiomyopathy. We performed bronchial arterial embolization and we administered alpha blocker medication for controlling the hemoptysis and hypertension. After the temporary symptomatic improvement, her clinical course was aggravated by pneumonia and pulmonary edema. In spite of performing definitive surgery for pheochromocytoma, she died of postoperative hemodynamic instability.
Abdominal Pain ; Cardiomyopathies ; Catecholamines ; Female ; Hemodynamics ; Hemoptysis ; Hemorrhage ; Humans ; Hypertension ; Pheochromocytoma ; Pneumonia ; Pulmonary Edema

BACKGROUND: LOH11A is a region with frequent allele loss (>75%) in lung cancer that is located on the centromeric part of chromosome 11p15.5. Clinical and cell biological studies suggest that this region contains a gene associated with metastatic tumor spread. RRM1 encoding the M1 subunit of ribonucleotide reductase, which is an enzyme that catalyses the rate-limiting step in deoxyribonucleotide synthesis, is located in the LOH11A region. METHODS: Polymorphisms were found at nucleotide position (-)37 (C/A) and (-)524 (C/T) from the beginning of exon 1 of the RRM1 gene that might regulate the expression of RRM1. We studied the polymorphisms in 127 Korean individuals (66 lung cancer and 61 normal controls) and compared with those of 140 American patients with lung cancer. RESULTS: CC, AC and AA were found at the (-)37 position in 64(50.4%), 55(43.3%), and 8(6.3%) out of 127 Korean individuals (66 cancer, 61 non-cancer patients), respectively. There was a similar frequency of allele A at (-)37 in the American(27.9%) and Korean population(28.0%). CC, CT and TT was found at the (-)524 position in 24(18.9%), 44(34.6%), and 59(46.5%) out of the 127 Korean individuals, respectively. There was a similar frequency of allele C at (-)524 in the American(34.6%) and Korean population(36.2%).There was no difference in the frequency of the (-)37 and (-)524 genotypes between the cancer and non-cancer group. However there was a significant correlation of the genotypes between (-)37 and (-)524 (p<0.001), which suggests the possible coordination of these polymorphisms in the regulation of the promoter activity of the RRM1 gene. CONCLUSION: RRM1 promoter polymorphisms were not found to be significant risk factors for lung cancer. However, a further study of the promoter activity and expression of the RRM1 gene according to the pattern of the polymorphism will be needed.
Alleles ; Catalysis ; Exons ; Genes, vif ; Genotype ; Humans ; Lung Neoplasms* ; Lung* ; Ribonucleotide Reductases ; Risk Factors

OBJECTIVE: Our purpose was to estimate the prevalence of hepatitis C virus seropositivity and define the risk factors for HCV infection in a group of pregnant women and the effect of HCV infection to mother and baby at the time of delivery. METHODS: From March 1997 to February 1998, 5655 women who delivered over 20 gestational weeks at our hospital were screened for HCV-Antibody(RIA), and the samples of most of HCV-Ab positive cases were analyzed for HCV-RNA by polymerase chain reaction(PCR). We also studied the risk factors for HCV infection, the effect of HCV infection to mothers and neonates at delivery. RESULTS: Of 5655 mothers 25 (0.44%) were HCV-Ab positive, and 20 of HCV-Ab positive mothers were analyzed for HCV-RNA by PCR. Of 20 HCV-Ab positive mothers 12 cases (60%) were HCV-RNA positive. Risk factors significantly more prevalent among HCV-seropositive patients were : a history of habitual intraveneous drug use, a history of smoking, alcohol drinking during pregnancy, having liver cirrhorsis. The proportions who had received a blood transfusion, had a history or ongoing syphilis or were positive for hepatitis B virus surface antigen were not significantly different between seropositive and seronegative women. Liver function test at delivery was abnormal in 4 cases(16%) of HCV-Ab positive group. And the number of abnomal liver function test cases in HCV-Ab negative group were 47(0.83%). This had statistical difference. In neonates at delivery, all 20 neonates of 20 ones having HCV-Ab positive mother were HCV-Ab positive. But only 2 cases of 20 babies were HCV-RNA positive. CONCLUSION: Mothers who have risk factors such as injecting drug use, smoking, alchohol drinking and liver cirrhorsis, should undergo HCV-Ab testing and quantitative HCV-RNA testing by PCR. More advanced studies about vertical transmission of HCV infection are needed.
Alcohol Drinking ; Antigens, Surface ; Blood Transfusion ; Drinking ; Female ; Hepacivirus* ; Hepatitis B virus ; Hepatitis C* ; Hepatitis* ; Humans ; Infant, Newborn ; Liver ; Liver Function Tests ; Mothers ; Polymerase Chain Reaction ; Pregnancy* ; Pregnant Women ; Prevalence ; Risk Factors ; Smoke ; Smoking ; Syphilis

OBJECTIVE: The birth weight distributions are obtained to be classified according to the duration of pregnancy, and then compared with other results already published in literature to verify the difference. METHODS: A total of 17,291 deliveries in Gachon medical center hospital from January 1996 to December 1999 is retrospectively reviewed. The data of 28~42th week of gestation are analysed, and the 10th, 25th, 50th, 75th and 90th percentiles of birth weight are determined for each week and also according to sex and parity. Furthermore the 10th, 50th, 90th percentiles are compared with those from other reports. RESULTS: 1. The 10th, 50th, 90th percentiles of birth weight classifed according to gestational age are as follow : in 28th week of pregnancy, 1,068, 1,240 and 1,812 g; in 32th week, 1,470, 1,890 and 2,266 g; in 36th week, 2,170, 2,720 and 3,240 g; in 40th week, 2,910, 3,370 and 3,870 g; in 42th week, 2,977, 3,475 and 4,023 g.2. The mean birth weight of the male neonates is greater than that of the female ones from 37th week to 41th week (p<0.01).3. Comparisons of 10th, 50th, 90th percentiles of birth weight with Park groups show that there is an increase of birth weight by 100~144 g. CONCLUSION: Comparison of the birth weight-gestational age table with ones published by other groups shows that infants tend to be heavier.
Birth Weight ; Female ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Male ; Parity ; Parturition* ; Pregnancy ; Retrospective Studies

Recently, intra-Muscular Stimulation (IMS) therapy is being increasingly used for musculoskeletal pain. This procedure is generally regarded as a safe procedure for the general public. Some cases of iatrogenic pneumothorax caused by acupuncture have been reported in the medical literature. However, a case of an IMS therapy associated pneumothorax has not reported. We experienced two cases of iatrogenic pneumothorax after IMS therapy. A 62 year-old man received IMS therapy on the right shoulder due to posterior neck pain. After IMS therapy, acute dyspnea and chest discomfort developed. The other patient was a 74 year-old woman who also received IMS therapy. This patient experienced a nonproductive cough and acute dyspnea after the treatment. As the popularity of this form of alternative medicine increases, we might expect to see more cases of iatrogenic pneumothorax. Physicians should be aware of the adverse events associated with IMS therapy.
Acupuncture ; Aged ; Complementary Therapies ; Cough ; Dyspnea ; Female ; Humans ; Middle Aged ; Musculoskeletal Pain ; Neck Pain ; Pneumothorax* ; Shoulder ; Thorax

Leiomyoma of the bronchus is a very rare benign tumor of the lung. Most endobronchial leiomyomas occur as secondary foci of primary uterine leiomyoma. We herein report a case with endobronchial tumor that had a different pathology from a primary resected uterine leiomyoma and was therefor considered a primary endobronchial leiomyoma. A 51-year-old woman with a history of uterine myoma presented with productive cough and fever. Bronchoscopy revealed a lightly yellow colored mass lesion that totally obstructed the orifice of the left lower lobe of the lung. The diagnosis of leiomyoma was made by histological examination of the obtained specimen. We considered the possibility of a benign metastasizing pulmonary leiomyoma. For treatment and differential diagnosis, a left lower lobe lobectomy of the lung and total hysterectomy with bilateral salphingooopherectomy were performed. The differences between lung and uterine lesions were confirmed by morphologic finding and immunohistochemical staining. The pathological diagnosis was primary endobronchial leiomyoma combined with uterine myoma.
Bronchi ; Bronchoscopy ; Cough ; Diagnosis ; Diagnosis, Differential ; Female ; Fever ; Humans ; Hysterectomy ; Leiomyoma* ; Lung ; Middle Aged ; Pathology