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1.  Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus 
Korean Journal of Radiology  2009;10(2):190-193.
We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28+3 weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.
doi:10.3348/kjr.2009.10.2.190
PMCID: PMC2651437  PMID: 19270866
Transient abnormal myelopoiesis; Hepatosplenomegaly; Ventriculomegaly; Down syndrome
2.  Intradural Extramedullary and Subcutaneous Tumors in Neonate : Atypical Myxoid Spindle Cell Neoplasm 
Tumors of the central nervous system are common in the pediatric population and constitute the second most prevalent tumor type in children. Within this group, spinal cord tumors are relatively rare and account for 1 to 10% of all pediatric central nervous system tumors. We describe a very rare case of an intradural extramedullary spinal cord tumor with a subcutaneous mass and discuss its clinical presentation, pathogenesis, and treatment. A male infant was delivered normally, with uneventful development. At 16 days post-delivery, his family took him to a pediatrician because of a mass on his upper back. Magnetic resonance imaging of the thoracic spine revealed a well-demarcated soft-tissue mass with central cystic change or necrosis at the subcutaneous layer of the posterior back (T2-7 level). Another mass was found with a fat component at the spinal canal of the T1-3 level, which was intradural extramedullary space. After six weeks, the spinal cord tumor and subcutaneous mass were grossly total resected; pathologic findings indicated an atypical myxoid spindle cell neoplasm, possibly nerve sheath in type. The final diagnosis of the mass was an atypical myxoid spindle cell neoplasm. The postoperative course was uneventful, and the patient was discharged after nine days without any neurological deficit. We report a rare case of an intradural extramedullary spinal tumor with subcutaneous mass in a neonate. It is necessary to monitor the patient's status by examining consecutive radiologic images, and the symptoms and neurological changes should be observed strictly during long-term follow-up.
doi:10.3340/jkns.2012.52.4.417
PMCID: PMC3488656  PMID: 23133736
Intradural extramedullary spinal cord neoplasm; Neonate; Congenital
3.  Fornix Injury in a Patient with Rotavirus Encephalopathy: Diffusion Tensor Tractography Study 
Annals of Rehabilitation Medicine  2012;36(4):551-555.
Rotavirus encephalopathy (RE) is a benign afebrile seizure associated with acute gastroenteritis caused by rotavirus infection. We investigated the diffusion tensor tractography (DTT) findings of a patient with RE. The patient was a 30-month-old female that had experienced a brief, generalized convulsive seizure. On the day of admission, the patient had vomiting and experienced watery diarrhea. Her stool was positive for rotavirus antigen. At onset, the patient displayed a drowsy and delirious mental status; later, a splenial lesion of the corpus callosum was found on MRI. One week later, the patient's condition improved and the splenial lesion had disappeared by conventional MRI. Initial DTI showed decreased fractional anisotropy (FA) values of fornix, as well as of the corpus callosum. A follow-up DTT showed a restored interrupted right fonical crus and increased FA values of corpus callosum and fornix. These results highlight the implications of the probability of not only a corpus callosum injury, but a fornix injury as well, in this patient with RE.
doi:10.5535/arm.2012.36.4.551
PMCID: PMC3438423  PMID: 22977782
Diffusion tensor tractography; Rotavirus encephalopathy; Fornix
4.  Identification of SLC26A3 Mutations in a Korean Patient with Congenital Chloride Diarrhea 
Annals of Laboratory Medicine  2012;32(4):312-315.
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder with the hallmark of persistent watery Cl--rich diarrhea from birth. Mutations in the solute carrier family 26, member 3 (SLC26A3) gene, which encodes a coupled Cl-/HCO3- exchanger in the ileum and colon, are known to cause CLD. Although there are a few reports of CLD patients in Korea, none of these had been confirmed by genetic analysis. Here, we describe the case of a Korean infant with clinical features of CLD. Using direct sequencing analysis, we identified 2 sequence variants: a missense variant of unknown significance (c.525G>C; p.Arg175 Ser) and a splicing mutation (c.2063-1G>T) in the SLC26A3 gene; these had been inherited from the father and mother, respectively. Whilst CLD is rare, its main symptom, diarrhea, is very common in infants. Hence, the diagnosis of CLD can prove difficult. Mutational analysis of the SLC26A3 gene should be considered as a viable method to confirm a diagnosis of CLD in Korean infants with persistent diarrhea.
doi:10.3343/alm.2012.32.4.312
PMCID: PMC3384816  PMID: 22779076
Congenital chloride diarrhea; SLC26A3 gene; Mutation
5.  Learning Curves for Colonoscopy: A Prospective Evaluation of Gastroenterology Fellows at a Single Center 
Gut and Liver  2010;4(1):31-35.
Background/Aims
Colonoscopy training programs and the minimal experience with colonoscopy required to be considered technically competent are not well established. The aim of this study was to determine the colonoscopy learning curves and factors associated with this difficult procedure at a single center.
Methods
A total of 3,243 colonoscopies were performed by 12 first-year gastroenterology fellows, and various clinical factors were assessed prospectively for 22 months. Acquisition of competence (success rate) was evaluated based on two objective criteria: (i) the adjusted completion rate (>90%) and (ii) cecal intubation time (<20 minutes).
Results
The overall success rate in reaching the cecum in less than 20 minutes was 72.8%. The cecal intubation time was 9.34±4.13 minutes (mean±SD). Trainees' skill at performing cecal intubation in <20 minutes reached the requisite standard of competence after 200 procedures. Cecal intubation time decreased significantly from 11.3 to 9.4 minutes after 100 procedures and improved continuously thereafter. Female patients and advanced patient age (over 60 years) were associated with prolonged cecal intubation time (>20 minutes). Surgery of the uterus and ovaries was significantly correlated with delayed cecal intubation time, but not after sufficient colonoscopy experience.
Conclusions
The minimum number of procedures to reach technical competence was 200. The cecal intubation time was longer in female and older patients.
doi:10.5009/gnl.2010.4.1.31
PMCID: PMC2871602  PMID: 20479910
Colonoscopy; Learning curves; Fellows
6.  Low Birth Weight, Very Low Birth Weight Rates and Gestational Age-Specific Birth Weight Distribution of Korean Newborn Infants 
Journal of Korean Medical Science  2005;20(2):182-187.
To obtain the low birth weight (LBW) rate, the very low birth weight (VLBW) rate, and gestational age (GA)-specific birth weight distribution based on a large population in Korea, we collected and analyzed the birth data of 108,486 live births with GA greater than 23 weeks for 1 yr from 1 January to 31 December 2001, from 75 hospitals and clinics located in Korea. These data included birth weight, GA, gender of the infants, delivery type, maternal age, and the presence of multiple pregnancy. The mean birth weight and GA of a crude population are 3,188±518 g and 38.7±2.1 weeks, respectively. The LBW and the VLBW rates are 7.2% and 1.4%, respectively. The preterm birth rate (less than 37 completed weeks of gestation) is 8.4% and the very preterm birth rate (less than 32 completed weeks of gestation) is 0.7%. The mean birth weights for female infants, multiple births, and births delivered by cesarean section were lower than those for male, singletons, and births delivered vaginally. The risk of delivering LBW or VLBW infant was higher for the teenagers and the older women (aged 35 yr and more). We have also obtained the percentile distribution of GA-specific birth weight in infants over 23 weeks of gestation.
doi:10.3346/jkms.2005.20.2.182
PMCID: PMC2808589  PMID: 15831984
Infant, Low Birth Weight; Infants, Very Low Birth Weight; Gestational Age; Birth Weight; Birth Weight Distribution
7.  A Safer, Simpler, Classic Intrafascial Supracervical Hysterectomy Technique 
Objectives:
Our aim is to introduce the technical aspects and advantages of a new classic intrafascial supracervical hysterectomy (CISH) technique over the conventional technique.
Methods:
We performed a retrospective evaluation (Canadian Task Force classification II-2) of 200 women who underwent conventional CISH technique (100 cases), between March 2000 and September 2000, or the new CISH technique (100 cases) between May 2002 and November 2002. The charts of these 200 women were reviewed regarding patient characteristics, indications, uterine weight, estimated blood loss, operating time, and hemoglobin change.
Results:
The women who underwent the new CISH had significantly shorter operating time as compared with operating time for the conventional method. Although no significant difference existed in the estimated blood loss, the hemoglobin change, which is an objective sign of blood loss, was significantly smaller using the new CISH technique than using the conventional CISH technique.
Conclusions:
The new CISH technique is safer, more convenient, faster, and results in less blood loss than the conventional technique, especially when the uterus is markedly enlarged by a large myoma, the ovarian ligament is too short, or the ovary and uterus are very closely adherent.
PMCID: PMC3015585  PMID: 15984702
Conventional CISH technique; New CISH technique
8.  Production of Chemokines in Kawasaki Disease, Henoch-Schönlein Purpura and Acute Febrile Illness 
Journal of Korean Medical Science  2004;19(6):800-804.
We compared the production of three chemokines; interferon-γ-inducible protein-10 (IP-10), monocyte chemoattractant protein-1 (MCP-1) and growth-related oncogene-α (Gro-α) that attracts monocytes or neutrophils, or both, in peripheral blood at acute stage of Kawasaki disease (n=29), Henoch-Schönlein purpura (n=15) and acute febrile illnesses (n=12). The production of the chemokines was assayed by ELISA. The plasma levels of IP-10 were markedly elevated in Kawasaki disease (538.6±336.4 pg/mL) and acute febrile illnesses (417.1±262.2 pg/mL) compared with in Henoch-Schönlein purpura (58.7±95.7 pg/mL) (p<0.05). The MCP-1 levels were elevated in Kawasaki disease (443.0±473.1 pg/mL) and acute febrile illnesses (328.6±261.1 pg/mL) compared with in Henoch-Schönlein purpura (82.9±79.0 pg/mL) (p<0.05). The Gro-α levels were elevated only in acute febrile illnesses (134.3±153.6 pg/mL) compared with in Kawasaki disease (31.8±22.1 pg/mL) or Henoch-Schönlein purpura (29.4±53.3 pg/mL) (p<0.05). According to these results, monocytes may play an important role in Kawasaki disease. In acute febrile illnesses, both monocytes and neutrophils may play an important role. By contrast, Henoch-Schönlein purpura may not be associated with the role of monocytes and neutrophils. Further studies using a larger number of cases are needed.
doi:10.3346/jkms.2004.19.6.800
PMCID: PMC2816295  PMID: 15608388
Mucocutaneous Lymph Node Syndrome; Kawasaki Disease; Purpura, Schönlein-Henoch; Acute Febrile Illness; Measles; Gastroenteritis; Pneumonia; Tonsillitis; Mumps; Exanthem Subitum; Chemokines, CC; Chemokines, CXC; Chemokines
9.  Effects of thyroxine on hyperkalemia and renal cortical Na+, K+ - ATPase activity induced by cyclosporin A. 
Journal of Korean Medical Science  2002;17(5):625-632.
Cyclosporin A (CsA)-induced hyperkalemia is caused by alterations in transepithelial K+ secretion resulting from the inhibition of renal tubular Na+, K+ -ATPase activity. Thyroxine enhances renal cortical Na+, K+ -ATPase activity. This study investigated the effect of thyroxine on CsA-induced hyperkalemia. Sprague-Dawley rats were treated with either CsA, thyroxine, CsA and thyroxine, or olive-oil vehicle. CsA resulted in an increase in BUN and serum K+, along with a decrease in creatinine clearance, fractional excretion of potassium, and renal cortical Na+, K+ -ATPase activity, as compared with oil vehicle administration. Histochemical study showed reduced Na+, K+ -ATPase activity in the proximal tubular epithelial cells of the CsA-treated compared with the oil-treated rats. Histologically, isometric intracytoplasmic vacuolation, disruption of the arrangement and swelling of the mitochondria, and a large number of lysosomes in the tubular epithelium were characteristic of the CsA-treated rats. Co-administration of thyroxine prevented CsA-induced hyperkalemia and reduced creatinine clearance, Na+, K+ -ATPase activity, and severity of the histologic changes in the renal tubular cells when compared with the CsA-treated rats. Thyroxine increased the fractional excretion of potassium via the preservation of Na+, K+ -ATPase activity in the renal tubular cells. Thus, the beneficial effects of thyroxine may be suited to treatment modalities for CsA-induced hyperkalemia.
PMCID: PMC3054936  PMID: 12378013
10.  Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis 
Background
Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well established among Caucasian populations. In Koreans, however, there are very few cases of genetically confirmed CF thus far, and the spectrum of mutations seems quite different from that observed in Caucasians.
Methods
In the present study, we describe the cases of 2 Korean CF patients, present sequencing results identifying mutations in their CFTR gene, and summarize the results of CFTR mutational spectrum from previously reported Korean CF patients. The mutations described were identified by performing direct sequencing analysis of the complete coding regions and flanking intronic sequences of the CFTR gene, followed by multiplex ligation-dependent probe amplification (MLPA) analysis in order to detect gene deletions or duplications that could not be identified by a direct sequencing method.
Results
Three CFTR mutations were identified in the 2 patients, including p.Q98R, c.2052delA, and c.579+5G>A. In an analysis of 9 Korean CF patients that included the 2 patients presented in this study, p.Q98R mutation was the only recurrently observed mutation with a frequency of 18.8% (3/16 alleles). Furthermore, only one of the mutations (c.3272-26A>G) was found among the 32 common mutations in the screening panel for Caucasians from the Cystic Fibrosis Mutation Database.
Conclusions
Sequencing of the entire CFTR gene followed by MLPA analysis, rather than using the targeted sequencing-based screening panel for mutations commonly found in Caucasian populations, is recommended for genetic analysis of Korean CF patients.
doi:10.3343/kjlm.2011.31.3.219
PMCID: PMC3129356  PMID: 21779199
CFTR; Cystic fibrosis transmembrane conductance regulator; Cystic fibrosis; Mutations; Koreans; Sequencing; MLPA

Results 1-10 (10)