Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had a variety of clinical features including characteristic facial dysmorphism, cardiac abnormalities, and thrombocytopenia. The karyotype was described as 46,XX,rec(11)dup(11p)inv(11)(p15.1q24.2)pat and methylation-specific multiplex ligation-dependent probe amplification analysis showed duplication of the 11p15.5 region and hypermethylation of imprinting center 1. Chromosomal microarray analysis demonstrated 23.8 Mb duplication on 11pter-p14.3 and 13.8 Mb deletion on 11q23.3-qter. These results were consistent with BWS and JBS, respectively. Because uniparental disomy inherited from paternal pericentric inversion results in simultaneous 11p15.5 duplication and 11q23.3 deletion, appropriate genetic tests are necessary for accurate genetic diagnosis of patients.

Non-cirrhotic portal hypertension in an ankylosing spondylitis patient / 영남의대학술지

Idiopathic non-cirrhotic portal hypertension (INCPH) is a disease with an uncertain etiology consisting of non-cirrhotic portal hypertension and portal pressure increase in the absence of liver cirrhosis. In INCPH, patients exhibit normal liver functions and structures. The factors associated with INCPH include the following: Umbilical/portal pyremia, bacterial diseases, prothrombic states, chronic exposure to arsenic, vinyl chloride monomers, genetic disorders, and autoimmune diseases. Approximately 70% of patients present a history of major variceal bleeding, and treatment relies on the prevention of complications related to portal hypertension. Autoimmune disorders associated with INCPH are mainly systemic sclerosis, systemic lupus erythematosus and rheumatoid arthritis. To the best of our knowledge, a case of ankylosing spondylitis (AS) associated with INCPH has not been reported thus far. Therfore, we report our experience of a patient with AS accompanied by INCPH, who showed perisplenic varices with patent spleno-portal axis and hepatic veins along with no evidence of cirrhosis on liver biopsy, and provide a brief literature review.

Non-cirrhotic portal hypertension in an ankylosing spondylitis patient / 영남의대학술지

Idiopathic non-cirrhotic portal hypertension (INCPH) is a disease with an uncertain etiology consisting of non-cirrhotic portal hypertension and portal pressure increase in the absence of liver cirrhosis. In INCPH, patients exhibit normal liver functions and structures. The factors associated with INCPH include the following: Umbilical/portal pyremia, bacterial diseases, prothrombic states, chronic exposure to arsenic, vinyl chloride monomers, genetic disorders, and autoimmune diseases. Approximately 70% of patients present a history of major variceal bleeding, and treatment relies on the prevention of complications related to portal hypertension. Autoimmune disorders associated with INCPH are mainly systemic sclerosis, systemic lupus erythematosus and rheumatoid arthritis. To the best of our knowledge, a case of ankylosing spondylitis (AS) associated with INCPH has not been reported thus far. Therfore, we report our experience of a patient with AS accompanied by INCPH, who showed perisplenic varices with patent spleno-portal axis and hepatic veins along with no evidence of cirrhosis on liver biopsy, and provide a brief literature review.

Mediastinal pancreatic pseudocyst naturally drained by esophageal fistula / 영남의대학술지

Mediastinal pancreatic pseudocyst is a rare complication of acute or chronic pancreatitis. Pleural effusion and pneumonia are two of the most common thoracic complications from pancreatic disease, while pancreaticopleural fistula with massive pleural effusion and extension of pseudocyst into the mediastinum is a rare complication of the thorax from pancreatic disease. To the best of our knowledge, there have been no case reports of mediastinal pancreatic pseudocyst-induced esophageal fistula in Korea to date. Here in, we report a case about 43-year-old man of mediastinal pancreatic pseudocyst-induced esophageal fistula presenting with chest pain radiating toward the back and progressive dysphagia. The diagnosis was confirmed by an esophagogastroduodenoscopy and abdomen computed tomography (CT). The patient was treated immediately using a conservative method; subsequently, within 3 days from treatment initiation, symptoms-chest pain and dysphagia-disappeared. In a follow-up gastroscopy 7 days later and abdomen CT 12 days later, mediastinal pancreatic pseudocyst showed signs of improvement, and esophageal fistula disappeared without any complications.

Morphologic changes in the spinal cord following intrathecal palonosetron-HCl injection in rats

BACKGROUND: Intravenous palonosetron-HCl, a second-generation antagonist of selective serotonin type 3 (5-HT3) receptors, can prevent chemotherapy-induced nausea and vomiting (CINV) and postoperative nausea and vomiting (PONV). 5-HT3 receptors are abundant in the lower brainstem and the substantia gelatinosa of the spinal cord, which provides a theoretical rationale for neuraxial administration of 5-HT3 receptor antagonists for CINV, PONV, and opioid-induced nausea and vomiting. However, there are no reports of neuraxial administration of palonosetron-HCl. Before neuraxial administration of a drug is accepted for clinical use, its safety must be proven. This study was conducted to determine whether neuraxial administration of palonosetron-HCl produces neurologic injury. METHODS: Male Sprague-Dawley rats under general anesthesia were catheterized intrathecally and the catheter tip was advanced caudally to the L1 vertebra. After 7 days, 20 µl of normal saline (N group, n = 6) or 20 µl (1 µg) of palonosetron-HCl (P group, n = 6) were injected intrathecally once per day for 2 weeks. Neurotoxic changes were evaluated by light microscopy (LM) and electron microscopy (EM) of the spinal cord. Behavioral changes were also evaluated in both groups. RESULTS: One of the N group rats and three of the P group rats demonstrated abnormal behavior during intrathecal drug injection, but otherwise their behavior was normal. The spinal cords of the N group did not have any abnormal findings by LM or EM. The spinal cords of the P group had multiple vacuoles in the white matter by LM, especially in the dorsal funiculus, and EM revealed myelin, axonal, and mitochondrial swelling. CONCLUSIONS: Results suggest that chronic intrathecal administration of palonosetron-HCl produced microscopic morphologic changes in the spinal cords of rats.

The First Case of Therapy-Related Myelomastocytic Leukemia Based on the WHO 2008 Classification and the Recently Proposed Diagnostic Criteria

No abstract available.

Mediastinal pancreatic pseudocyst naturally drained by esophageal fistula / 영남의대학술지

Mediastinal pancreatic pseudocyst is a rare complication of acute or chronic pancreatitis. Pleural effusion and pneumonia are two of the most common thoracic complications from pancreatic disease, while pancreaticopleural fistula with massive pleural effusion and extension of pseudocyst into the mediastinum is a rare complication of the thorax from pancreatic disease. To the best of our knowledge, there have been no case reports of mediastinal pancreatic pseudocyst-induced esophageal fistula in Korea to date. Here in, we report a case about 43-year-old man of mediastinal pancreatic pseudocyst-induced esophageal fistula presenting with chest pain radiating toward the back and progressive dysphagia. The diagnosis was confirmed by an esophagogastroduodenoscopy and abdomen computed tomography (CT). The patient was treated immediately using a conservative method; subsequently, within 3 days from treatment initiation, symptoms-chest pain and dysphagia-disappeared. In a follow-up gastroscopy 7 days later and abdomen CT 12 days later, mediastinal pancreatic pseudocyst showed signs of improvement, and esophageal fistula disappeared without any complications.

Serotonin Syndrome following Duloxetine Administration in a Fibromyalgia Patient: Case Report and Literature Review

Serotonin syndrome, an adverse drug reaction, is a consequence of excess serotonergic agonism of central nervous system receptors and peripheral serotonergic receptors. Serotonin syndrome has been associated with large numbers of drugs and drug combinations, and serotonin-norepinephrine reuptake inhibitor-induced serotonin syndrome is rare. It is often described as a sign of excess serotonin ranging from tremor in mild cases to delirium, neuromuscular rigidity, and hyperthermia in life-threatening cases. Diagnosis is based on the symptoms and patient's history, and several diagnostic criteria have been developed. We experienced a rare case of fibromyalgia accompanied by tremor, hyperreflexia, spontaneous clonus, muscle rigidity, and diaphoresis after 10 days of single use of duloxetine 30 mg. Only one case of serotonin syndrome resulting from administration of duloxetine has been reported in Korea, however that case resulted from co-administration of fluoxetine. We report here on this case along with a review of the relevant literature.

Two-port access versus four-port access laparoscopic ovarian cystectomy

OBJECTIVE: This study was conducted to compare the surgical outcomes between two-port access and four-port access laparoscopic ovarian cystectomy. METHODS: Four hundred and eighty nine patients who had received two-port access laparoscopic ovarian cystectomy (n=175) and four-port access laparoscopic ovarian cystectomy (n=314) in Chungnam National University Hospital from January 2009 to August 2012 were analyzed retrospectively. The data were compared between the bilaterality of the cysts and cyst diameter of less than 6 cm and 6 cm or more. RESULTS: There were no significant differences in patient's age, parity, body weight, body mass index and history of previous surgery between the two-port and four-port access laparoscopy group. Bilaterality of ovarian cysts was more in fourport access laparoscopy group (13.7% vs. 32.5%, P=0.000). There were no significant differences in operation time, hemoglobin change, hospital stay, adhesiolysis, transfusion, and insertion of hemo-vac between the two-port and four-port access laparoscopy group for size matched compare. However additional analgesics were more in four-port access laparoscopy group for unilateral ovarian cystectomy. CONCLUSION: Two-port access laparoscopic surgery was feasible and safe for unilateral and bilateral ovarian cystectomy compare with four-port access laparoscopic surgery.

A Case of Vascular Leak Syndrome During Induction Chemotherapy of Acute Lymphoblastic Leukemia (T Cell Type)

Vascular leak syndrome(VLS) is characterized by endothelial damage, which causes extravasation of plasma proteins and fluid from capillaries into the extravascular space. It has been suggested that the increased vascular permeability is the result of an IL-2-induced suppression of endothelin-1 secretion by endothelial cells, an IL-2-induced activation of the complement cascade or TNF-alpha release from IL-2-activated T-cells. A 13-year-old male patient visited our hospital with abdominal pain. He was diagnosed with acute lymphoblastic leukemia(T cell type) by bone marrow study on his 2 nd day in hospital. On the 3 rd day of induction chemotherapy(prednisone, L-asparaginase, vincristine, intrathecal methotrexate), pulmonary edema and pleural effusion, ascites and generalized edema developed and lasted for 53 days without responding to supportive care. The laboratoy finding was that TNF-alpha was increased without evidence of infection and hypoalbuminemia was noted. It was suggested that the patient's clinical feature was induced by VLS.

Peak expiratory flow rate in atopic dermatitis / 천식및알레르기

BACKGROUND AND OBJECTIVE: There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. There are many risk factors affecting allergic march such as expanded exposure to multi-allergens, family history of atopy and other environmental factors etc. In this study, we tried to check PEFR in atopic dermatitis children before development of asthma and to determine whether the PEFR can be a predicting factor of asthma. METHODS: Nineteen atopic dermatitis children(group A), 21 atopic dermatitis children with asthma(group B) and 25 control children were enrolled in this study. We checked the PEFR in each subject and calculated the % predicted value. We compared the value of PEFR in each group. RESULTS: Males were predominant in all study groups and the mean ages of the subjects were 5.9 years in group A, 6.8 years in group B, and 8.7 years in control group. The % predicted values of PEFR were 86.57+/-7.32 in group A, 88.16+/-10.33 in group B, and 100.68+/-17.56 in control group. There was a significant difference of PEFR between group A and control group. Additionally, the PEFR in house dust mite sensitive group was lower than that of house dust mite allergen insensitive group among atopic dermatitis group. CONCLUSION: The lower value of PEFR in atopic dermatitis group suggests that there is some degree of pulmonary obstruction, even if bronchial asthma does not occur. Therefore, the PEFR of atopic dermatitis can be a predicting factor for the development of asthma.

Gastrointestinal Foreign Bodies in Children: Experiences of 60 Cases in Kangwon, Korea / 대한소아소화기영양학회지

PURPOSE: Ingested foreign bodies present a common clinical problem. It is well known that most of them pass uninterrupted through the gastrointestinal tract. We evaluated the role of endoscopy and Foley catheter for removal of foreign bodies in the gastrointestinal tract. METHODS: We investigated retrospectively 60 cases with foreign bodies in the gastrointestinal tract. They had been treated at Wonju Christian Hospital, Yonsei University of Korea, from January, 1996 through December, 1999. RESULTS: The age of the patients ranged from 7 months to 13 years. Patients under 5 years were 57 cases (97%) and there was no significant difference in sex (M : F=1.07 : 1). 45 cases of the patients had no symptom. The most common foreign bodies were coins (43 cases). The most common location was esophagus (31 cases). The number of foreign body removal using flexible endoscopy and Foley catheter was 22 (36.7%) and 18 (30.0%) cases, respectively. In 18 cases (30.0%), foreign bodies passed spontaneously. Only 1 case (1.7%), curtain pin impaction at ileocecal region, required surgery. CONCLUSION: Early foreign body removal from esophagus and stomach is recommended to lessen the morbidity and complication. Fluoroscopic foley catheter technique and flexible endoscopy for removal of esophageal foreign bodies in children is safe and effective.

Analysis of Risk Factors Affecting the Pediatric Renal Allograft Survival in Cyclosporine Era / 대한신장학회잡지

A total of 82 pediatric renal transplants treated with cyclosporine and low dose prednisolone as the main immunosuppressive agents were used as the subjects of this study to find the risk factors whitch might influence the pediatric renal allograft survival in a single center from Feb. 1984 to Mar. 1996. The mean age of the recipients was 14.7 years ranging from ages 3.9 to 19.9. There were 19 cases of graft loss, and 3 recipient death. The major causes of the graft loss were acute and/or chronic rejection, poor compliance and patient's death. The 1-, 3- and 5-year graft survival were 94.9%, 86.2% and 70.7% respectively. The original renal deseases of ESRD were FSGS (14 cases), chronic pyelonephropathy and VUR (11 cases) and IgA nephropathy (8 cases) in order frequency. The significant risk factors for the outcome were the ABO incompatibility (ABO identical 89.6% vs compatible 26.9%, P=0.001) and development of more than 1 episode of acute rejection within 1 year (P=0.002) and after 1 year (P=0.004). Other factors such as recipient's age, donor-recipient relationship and type and duration of dialysis modalities before trasplantation (P>0.05). In conclusion, for the successful outcome of pediatric renal transplantation, strict ABO matching and development and application of more effective immunosuppressive agents such as mycophenolate or FK- 506 to combat the acute and/or chronic rejection is required in near future.

A Treatment Case with PTCA in Osteal Stenosis of Takayasu's Arteritis

PTCA was performed in llgears old Takayasu's arteritis patient with left coronary artery osteal stenosis. A balloon angioplasty catheter was introduced by a 7-F guiding catheter with a 0.14 steerable guide wire. The balloonings were approximately 60 and 80 seconds at each duration. The procedure was performed repeat twice. The stenotic lesion was improved after PTCA. After 2years PTCA, left coronary artery was well dilatated in coronary angiogram. Until this time, the patient has not chest pain.

Molecular Diagnosis and Determination of the Parental Origin of Extrachromosome 21 in Korean with Down Syndrome Using DNA Haplotyping

Purposes : Down syndrome, the most common single cause of mental retardation, is usually due to meiotic nondisjunction leading to trisomy 21. In order to understand the mechanisms of meiotic nondisjunction including parental origin of an extrachromosome and the meiotic stage of nondisjunction, we have studied DNA polymorphisms at loci on the long arm of chromosome 21 in 36 families with free trisomy 21. METHODS: A total of 36 patients with Down syndrome who was cytogenetically diagnosed, and their parents were included in the study. The D21S11 locus was analysed using PCR follwed by denaturing polyacrylamide gel electrophoresis. RESULTS: The observed heterozygosity of D21S11 locus is 79.4% in the 104 unrelated Korean. Seven alleles with different sizes were observed. The parental origin of the extrachromosome 21 could be determined in 27 of 36 cases. The maternal origin was in 24 (88.9%) cases and paternal origin was in 3 cases (11.1%). Among informative cases, the meiotic error occurred at the first maternal meiosis in 9 (57.3%) cases and second meiosis in 7 (42.7%) of 16 cases. All paternal meiotic error occurred in the second meiosis. CONCLUSION: DNA haplotyping of the short tandem repeats markers can be very useful technique for molecular diagonosis and for determination of the parental origin of an extrachromosome 21 in Down syndrome. Nondisjunction of the maternal gamate is the main cause of trisomy 21, However, further studies with other polymorphic markers that locate at the centromere of chromosome 21 are needed in order to definitely determine the meiotic stage of nondisjunction in trisomy 21.

A Case of Narcolepsy Diagnosed by Multiple Sleep Latency Test

Narcolepsy is a serious, lifelong, disabling disorder characterized by a tetrad of symptoms including excessive daytime sleepiness, cataplexy, hypnagogic hallucination, and sleep paralysis. We experienced a 14 year old boy with a narcolepsy diagnosed by typical clinical symptoms above mentioned and multiple sleep latency test. A brief review of the related literatures was also made.

A Case of Common Bile Duct Stone Treatment with Endoscopic Sphincterotomy

The cholelithiasis and common bile duct(CBD) stone are rare problems among children. Endoscopic retrograde cholangiopancretogram(ERCP) and endoscopic sphincterotomy are rarely commomly utilized in the treatment of children, primarily because there are fewer indications. ERCP is an established procedure for visualization of the biliary tract. Endoscopic sphincterotomy with stone extraction has been accepted as the treatment of choice for CBD stone removal in adults. However, the role and value of these procedures in children are not as clear. We experienced a case of CBD stone in 3-year-old boy, who suffered reccurent jaundice and abdominal pain. The boy was administrated and was diagnosed with a mild abnormal gallbldder on ultrasound. Laboratory data showed obstructive jaundice, so, an ERCP was performed and identified that the child had a distal CBD stone. An Endoscopic sphincterotomy was then performed. After the sphincterotomy, the stone passed the Ampulla of Vater spontaneously without the use of a Dormia basket or Forgathy catheter.

A Study of Relation between Serum Aminotransferase Elevation and Clinical Symptoms from Human Rotavirus Gastroenteritis

This study was taken to measure the serum aminotransferase level and its correlation with clinical symptoms from Human Rotavirus gastroenteritis. This report is based on analysis of 434 patients who were admitted to the Pediatric department at Wonju Christian Hospital because of watery diarrhea and vomiting during 2-year period from July, 1991 to June 1993. The stool specimen on admission was tested for Rotavirus Ag by Rotazyme test. And then serum aminotransferase were checked. The result are as follows: 1) Rotavirus Antigens were detected in 194 cases (44.7%) among total 434 patients with gastroenteritis 2) The number of patients with AST elevation above the normal value in RTZ+group was 126 cases(64.9%) and, in RTZ-group was 65 cases(27.0%). 3) The mean value of AST in RTZ+ group was 41.7U/L and, in RTZ-group was 31.1U/L. The mean value of AST between the two groups were significantly different. 4) The mean value of ALT and GGT in the two groups were not different. 5) The patients with AST elevation above normal level in the RTZ+group was significantly increased in frequency and duration of diarrhea than RTZ+ group with normal AST level.

A Case of Intestinal Tuberculosis with Tuberculous Mesenteric Lymphadenitis Simulating Neoplasm

The incidence of abdominal tuberculosis is decreasing due to more effective chemotherapy and pasteurization of milk and tuberculosis may nt be given serious consideration, especially when the primary pulmonary site is healed or not roentgenographically apparent. The clinical features of these infection are relatively nonspecific and the combination of abdominal mass, weight loss, anorexia and fever frequently lead to an erroneous primary diagnosis of neoplasm, especially lymphoma or carcinoma, metastatic to mesenteric lymph node. We have recently experienced a case of abdominal tuberculosis with huge tuberculous mesenteric lymphadenitis simulating neoplasm in 24 month old male. The case was reported with the brief review of literatures.

Isolated Angiitis of the Cnetral Nervous System

Isolated angiitis of the central nervous system is a rare clinicopathologic entity characterized by vasculitis restricted to the vessels of central nervous system without other apparent systemic vasculitis. It manifests headache, higher cortical dysfunction. focal neurologic dysfunction and cranial nerve palsies. We experienced a case of isolated angiitis of the central nervous system in 6 year-old girl who was admitted to out unit because of headache, hemiparesis and altered consciousness. The laboratory test for blood, urine, and cerebrospinal fluid are all within normal ranges. There was no evidence of systemic vasculitis. The contrast enhanced brain CT scan showed low densities along the left cerebellar hemisphere and posterior aspect of temporal lobe without enhancement, and left lateral internal carotid angiogram showed poorly contrast filling along the territory of left posterior cerebral artery due to narrowing or ischemic changes of the vessels. Axial T2WI (TR/TE, 2190/80) of magnetic resonance imaging showed multiple scattered high signal intensities at left pons with cerebellar hemisphere and diffuse high signal intensity along the left occipital lobe with enlarged surrounding gyral patterns, and axial T1WI(TR/TE, 665/25) showed intense gyral pattern contrast enhancement along the left occipital lobe. Steroid was tried with apparent benefit. We report a case of isolated angiitis of central nervous system with review of literature.