We describe a case of an intrathoracic kidney combined with right congenital diaphragmatic hernia (CDH) that was diagnosed at 32 weeks of gestation. Although it has been well established that a right CDH shows a poorer outcome than a left CDH, our present case showed a good outcome because there was no herniation of other abdominal viscera, except for the right kidney. Our findings in this case indicate that impaction of the intrathoracic kidney may act as a 'shield' against further herniation of other abdominal viscera into the thoracic cavity.
Hernia, Diaphragmatic* ; Kidney* ; Pregnancy ; Thoracic Cavity ; Ultrasonography ; Viscera*

CG200745 is a novel inhibitor of histone deacetylases (HDACs), initially developed for treatment of various hematological and solid cancers. Because it is water-soluble, it can be administered orally. We hypothesized that the HDAC inhibitor, CG200745, attenuates cardiac hypertrophy and fibrosis in deoxycorticosterone acetate (DOCA)-induced hypertensive rats. For establishment of hypertension, 40 mg/kg of DOCA was subcutaneously injected four times weekly into Sprague-Dawley rats. All the rats used in this study including those in the sham group had been unilaterally nephrectomized and allowed free access to drinking water containing 1% NaCl. Systolic blood pressure was measured by the tail-cuff method. Blood chemistry including sodium, potassium, glucose, triglyceride, and cholesterol levels was analyzed. Sections of the heart were visualized after trichrome and hematoxylin and eosin stain. The expression of hypertrophic genes such as atrial natriuretic peptide A (Nppa) and atrial natriuretic peptide B (Nppb) in addition to fibrotic genes such as Collagen-1, Collagen-3, connective tissue growth factor (Ctgf), and Fibronectin were measured by quantitative real-time PCR (qRT-PCR). Injection of DOCA increased systolic blood pressure, heart weight, and cardiac fibrosis, which was attenuated by CG200745. Neither DOCA nor CG200745 affected body weight, vascular contraction and relaxation responses, and blood chemistry. Injection of DOCA increased expression of both hypertrophic and fibrotic genes, which was abrogated by CG200745. These results indicate that CG200745 attenuates cardiac hypertrophy and fibrosis in DOCA-induced hypertensive rats.
Animals ; Blood Pressure ; Body Weight ; Cardiomegaly* ; Chemistry ; Cholesterol ; Connective Tissue Growth Factor ; Desoxycorticosterone ; Desoxycorticosterone Acetate ; Drinking Water ; Eosine Yellowish-(YS) ; Fibronectins ; Fibrosis* ; Glucose ; Heart ; Hematoxylin ; Histone Deacetylase Inhibitors* ; Histone Deacetylases* ; Histones* ; Hypertension ; Methods ; Potassium ; Rats* ; Rats, Sprague-Dawley ; Real-Time Polymerase Chain Reaction ; Relaxation ; Sodium ; Triglycerides

Primary anaplastic large cell lymphoma (ALCL) of the lung is highly aggressive and quite rare. We report here a case of anaplastic lymphoma kinase-positive endobronchial ALCL, that was initially thought to be primary lung cancer. A 68-year-old woman presented with hemoptysis, dyspnea, and upper respiratory symptoms persisting since 1 month. The hemoptysis and and bronchial obstruction lead to respiratory failure, prompting emergency radiotherapy and steroid treatment based on the probable diagnosis of lung cancer, although a biopsy did not confirm malignancy. Following treatment, her symptoms resolved completely. Chest computed tomography scan performed 8 months later showed increased and enlarged intra-abdominal lymph nodes, suggesting lymphoma. At that time, a lymph node biopsy was recommended, but the patient refused and was lost to follow up. Sixteen months later, the patient revisited the emergency department, complaining of persistent abdominal pain since several months. A laparoscopic intra-abdominal lymph node biopsy confirmed a diagnosis of ALCL.
Abdominal Pain ; Aged ; Biopsy ; Diagnosis ; Dyspnea ; Emergencies ; Emergency Service, Hospital ; Female ; Hemoptysis* ; Humans ; Lost to Follow-Up ; Lung ; Lung Neoplasms ; Lymph Nodes ; Lymphoma ; Lymphoma, Large-Cell, Anaplastic* ; Radiotherapy ; Respiratory Insufficiency ; Thorax

The purpose of this study was to investigate the association between clinical variables and sudden unexpected death in epilepsy (SUDEP) and identify risk factors for SUDEP. SUDEP is one of the most frequent causes of death in patients with epilepsy. Previous studies have reported possible risk factors associated with SUDEP, but there need to be elucidated yet. The cases were 26 patients with SUDEP and three control patients were included for each case, matched for age, sex, and date of initial clinical visit. All demographic and clinical characteristics, including age, sex, disease duration, classification of epilepsy, age at seizure onset, kind and number of antiepileptic drugs, were compared between cases and controls. Seizure frequency was higher in SUDEP cases than in controls (P=0.035). Univariate analysis using conditional logistic regression showed that higher seizure frequency (odds ratio [OR]=3.1, P=0.021) and the number of antiepileptic drugs (AEDs) (OR=2.0, P=0.009) were significantly associated with SUDEP. Only the number of AEDs remained significant in multivariate analysis (OR=1.8, P=0.026). Frequent seizures and multi-drug therapy were associated with SUDEP. This may suggest that the severity of epilepsy is associated with SUDEP, regardless of the type of AED used.
Adult ; Age Distribution ; Anticonvulsants/*therapeutic use ; Death, Sudden/*epidemiology/*prevention & control ; Epilepsy/*mortality/*prevention & control ; Female ; Humans ; Incidence ; Male ; Recurrence ; Republic of Korea/epidemiology ; Risk Factors ; Sex Distribution ; Survival Rate ; Young Adult

PURPOSE: This prospective, open-label study evaluated the efficacy and safety of adjunctive levetiracetam (LEV) in Korean adults with uncontrolled partial epilepsy. METHODS: A total of 100 patients whose partial seizures were inadequately controlled on their current antiepileptic drugs were enrolled and received LEV (1000-3000 mg/day). Seizure count and adverse events (AEs) were recorded by patients. Global evaluation scale (GES) and quality of life (QOLIE-31) were also evaluated. Additionally effectiveness over 1-year follow-up was investigated. RESULTS: Ninety-two patients completed the short-term 16-week trial. The median percent reduction in weekly seizure frequency over the treatment period was 43.2%. The > or =50% and > or =75% responder rates were 45.4% and 36.1%, respectively. Seizure freedom was observed in 17 patients throughout the initial 16-week treatment period. On investigator's GES, 81 patients were considered improved, with 41 patients showing marked improvement. Most QOLIE-31 scales improved significantly. At the end of the trial, 79 chose to continue follow-up treatment with LEV. At the follow-up visit (ranging 60 to 81 weeks), 64 patients were still taking LEV; during the last 16 weeks, 65.6% of patients had > or =50% reduction, 50.0% had > or =75% reduction, and 35.9% had a 100% reduction. Seven patients showed continuous seizure freedom from the initiation of LEV treatment. During the entire treatment period, LEV was withdrawn in 36 patients; due to lack of efficacy in 22, AEs in six, both in three, other reasons in five. CONCLUSION: Adjunctive LEV therapy in patients with refractory partial epilepsy was effective and well-tolerated, as evidenced by the high seizure freedom and retention rates in both the short-term trial and the long-term follow-up.
Adult ; Anticonvulsants ; Epilepsies, Partial* ; Epilepsy ; Follow-Up Studies* ; Freedom ; Humans ; Prospective Studies ; Quality of Life ; Seizures ; Weights and Measures

OBJECTIVE: To review and evaluate a total of 2,372 cases of prenatal cytogenetic diagnoses at Asan Medical Center from 1999 to 2002. METHODS: We reviewed the medical records of the patients in whom the procedure for prenatal cytogenetic diagnosis was performed. A total of 1780 cases of amniocentesis, 455 cases of cordocentesis, and 137 cases of chorionic villus sampling were analyzed. The cytogenetic results, indications for prenatal cytogenetic diagnoses, maternal ages, and the profiles of abnormal karyotypes were reviewed. We calculated the positive predictive value of each indication for abnormal fetal karyotypes and evaluated a factor that was the most sensitive marker for abnormal fetal karyotypes. RESULTS: Among the 2,372 cases of prenatal cytogenetic diagnoses, abnormal karyotypes were identified in a total of 158 cases (6.7%). The most frequent indication for prenatal cytogenetic diagnosis was abnormal maternal serum screening (33.9%), followed by ultrasonographic abnormality (22.9%) and old age (20.0%). No significant difference was found between mean maternal age with and without abnormal fetal karyotypes after excluding balanced rearrangements and polymorphisms (31.9 +/- 5.3 vs. 32.1 +/- 4.5 years). Among the 92 cases of abnormal fetal karyotypes after excluding balanced rearrangements and polymorphisms, the most frequent indication for prenatal cytogenetic diagnosis was ultrasonographic abnormality (58.7%), followed by abnormal maternal serum screening (10.9%). The positive predictive value of ultrasonographic abnormality for abnormal fetal karyotype was 9.9%. CONCLUSION: Among the several indications for prenatal cytogenetic diagnosis, ultrasonographic abnormality could be the most predictive marker for abnormal fetal karyotypes.
Abnormal Karyotype ; Amniocentesis ; Chorionic Villi Sampling ; Chungcheongnam-do* ; Cordocentesis ; Cytogenetics* ; Diagnosis* ; Female ; Humans ; Karyotype ; Mass Screening ; Maternal Age ; Medical Records ; Pregnancy

Before the exact location of its chromosomal abnormality was identified, 22q11.2 deletion syndrome was described as many different names depending on its presenting clinical features. Patients with this syndrome have a wide range of findings such as cardiac anomaly, abnormal face, thymic hypoplasia, cleft palate, and hypocalcemia. Cardiac involvement is a prominent feature and most of the patients have a conotruncal heart defect. 22q11.2 deletion is the most common chromosomal cause of congenital heart defect after trisomy 21. Familial transmission accounts for about 8 per cent of cases and most of the cases develop sporadically. Even in cases where this syndrome is inherited, the parents' chromosomal abnormalities are often discovered only after the deletion is suspected in their children. We describe two prenatal cases in which this syndrome was suspected by ultrasonogram and confirmed by fluorescent in situ hybridization (FISH). In both cases, there was no known prior family history of cardiac abnormalities or chromosomal abnormality. In one case, autopsy following termination further confirmed the diagnosis. In the other case, the mother was also found to have 22q11.2 deletion.
Autopsy ; Child ; Chromosome Aberrations ; Cleft Palate ; Diagnosis ; DiGeorge Syndrome* ; Down Syndrome ; Heart ; Heart Defects, Congenital ; Humans ; Hypocalcemia ; In Situ Hybridization, Fluorescence ; Mothers ; Prenatal Diagnosis* ; Ultrasonography

BACKGROUND: To study social stigma of people with epilepsy (PWE) in Korea, focusing on which factors are associated with social stigma. METHODS: Data were collected from 400 adult epilepsy patients (51% male, mean age:32.9 years, range:19-64 years). Patients were recruited from 10 epilepsy centers in Korea. Clinical information about seizures was obtained by neurologists and the other information was collected by using self-completed questionnaires including stigma of epilepsy scale and several scales or questions. RESULTS: Thirty one percent of PWE felt stigmatized by epilepsy, 9% of them highly so. The presence of stigma of epilepsy was associated with duration of epilepsy, seizure remission or frequency, generalized tonic clonic seizures in the last 2 years, seizure-related injuries in the last year, the actual discrimination from society, all subscales of QOLIE-31, education, introverted and neurotic personality, helplessness, control, and confidence in problem solving, anxiety and depression, and self-esteem. Multivariate analysis identified discrimination from society, introverted personality, problem solving control, and emotional subscale of QOLIE-31. CONCLUSION: Our data showed the prevalence of social stigma of PWE in Korea might be not high unexpectedly and suggested that the actual discrimination from society and patients' coping style including personality might be important in feeling social stigma of epilepsy. Our results would be basic information for the further studies to clarify the causative factors to generate the stigma of epilepsy.
Adult ; Anxiety ; Depression ; Discrimination (Psychology) ; Education ; Epilepsy* ; Humans ; Korea* ; Male ; Multivariate Analysis ; Prevalence ; Problem Solving ; Surveys and Questionnaires ; Seizures ; Social Stigma* ; Weights and Measures

Antithrombin III deficient individuals have an increased risk of venous thrombosis and thromboembolism at a young age. To our knowledge, cerebral venous thrombosis associated with antithrombin III deficiency has not yet been reported in Korea. A 27-year-old pregnant woman without any known stroke risk factors was admitted to our hospital because of convulsions. Brain MRI and MR venography showed dural sinus thrombosis of the superior sagittal sinus, straight sinus, and left lateral sinus with venous hemorrhagic infarctions in both frontal and parietal lobes. Antithrombin III concentrations were decreased to 37%. We speculated that the etiology of the cerebral venous thrombosis in this patient was associated with antithrombin III deficiency. We suggest that antithrombin III deficiency should be considered as a possible cause of cerebral venous thrombosis.
Adult ; Antithrombin III Deficiency* ; Antithrombin III* ; Brain ; Female ; Humans ; Infarction ; Korea ; Magnetic Resonance Imaging ; Parietal Lobe ; Phlebography ; Pregnant Women ; Risk Factors ; Seizures ; Sinus Thrombosis, Intracranial* ; Stroke ; Superior Sagittal Sinus ; Thromboembolism ; Transverse Sinuses ; Venous Thrombosis

Thoracic sympathicotomy has been used safely and successfully to treat essential hyperhidrosis. However, it has been difficult to treat compansatory hyperhidrosis after thoracic sympathicotomy and focal hyperhidrosis. The sweat glands were innervated by post-ganglionic sympathetic fibers with acetylcholic serving as the transmitter. Botulinum A toxin has been reported to block neuro-transmission at the cholinergic autonomic nerve terminals. Prospecting its effect for the sweat gland, we treated 5 patients with focal hyperhidrosis with botulinum A toxin. Three patients received bilateral thoracic sympathectomy (1 case) and sympathicotomy(2 case) via VAT. The hyperhidrosis area was marked with betadine and was subdivided into squares of 2x2 cm(4cm(2)) each. Botulinum A toxin was injected intracutaneously in a dosage of 2.5U/0.1ml(100U/4ml) /4cm(2). A total dose of 100U of Botulinum A toxin was injected into the affected sites. Subjective assessment of sweat production by the patients using a visual analogue scale showed a 20~70% improvement. During the follow-up period, no toxic effects were observed.
Adrenergic Fibers ; Autonomic Pathways ; Botulinum Toxins, Type A* ; Follow-Up Studies ; Humans ; Hyperhidrosis* ; Povidone-Iodine ; Sweat ; Sweat Glands ; Sympathectomy