No abstract available.
Colorectal Neoplasms* ; Follow-Up Studies*

PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. RESULTS: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.
Epilepsy ; Humans ; Intellectual Disability

Background: Following the coronavirus disease 2019 (COVID-19) outbreak in Wuhan, China, a total of 637 patients had been diagnosed with the disease in Seoul as of May 2, 2020. Our study aimed to describe the impact of the 3T strategies (preemptive testing, prompt tracing and proper treatment) on the epidemiological characteristics of COVID-19 in Seoul. Methods: The descriptive and explanatory analysis was carried out on critical indicators such as epidemiological characteristics and key duration of patient status change from January 24 to May 2 in Seoul before and after preemptive testing for patients under investigation associated with COVID-19 clusters. Results: Preemptive testing increased the positive test rate (3.9% to 4.2%), an asymptomatic case at diagnosis (16.9% to 30.6%), and reduced the time from symptom onset to quarantine (4.0 to 3.0 days). Prompt tracing decreased unknown sources of infection (6.9% to 2.8%), the mean number of contacts (32.2 to 23.6), and the time-varying reproduction number R(t) (1.3 to 0.6). With proper treatment, only 2 cases of mortality occurred, resulting in a fatality rate of just 0.3%. Conclusion In the first wave of the COVID-19 pandemic lasting 100 days, the effect of the 3T strategies flattened the curve and decreased the time during which infected individuals were contagious, thereby lowering the R(t) below 1 in Seoul.

Many AML-associated chromosomal abnormalities, such as t(8;21), t(15;17), inv(16), t(9;11), t(9;22) and t(6;9) are well known. The chromosomal aberration of t(16;21)(p11;q22) in AML is rare and it is known to be associated with poor prognosis, young age (median age, 22 yr), and involvement of various subtypes of the French-American-British classification. We report here 2 AML patients with t(16;21)(p11;q22), proved by conventional cytogenetics and/or reverse transcription (RT)-PCR. Erythrophagocytosis by leukemic blasts was observed in both of the cases. One patient was a 24 yr-old male with acute myelomonocytic leukemia. His karyotype was 46,XY,t(16;21)(p11;q22),del(18)(p11.2) and RT-PCR revealed the TLS/FUS-ERG fusion transcripts. Although he received allogeneic peripheral blood stem cell transplantation after the first remission, he died 9 months after the initial diagnosis due to relapse of the disease and graft-versus-host disease. The other patient was a 72 yr-old male with acute myeloid leukemia without maturation. His karyotype was 45,XY,-16,add(21)(q22) and the presence of t(16;21)(p11;q22) was detected by RT-PCR. He was transferred to another hospital with no more follow-up. We suggest that the presence of t(16;21)(p11;q22) and/or TLS/FUS-ERG fusion transcripts has to be considered in cases of AML with erythrophagocytosis.
Aged ; Chromosomes, Human, Pair 16/*genetics ; Chromosomes, Human, Pair 22/*genetics ; Graft vs Host Disease/diagnosis ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute/diagnosis/*genetics ; Male ; Oncogene Proteins, Fusion/*genetics ; RNA-Binding Protein FUS/*genetics ; Reverse Transcriptase Polymerase Chain Reaction ; *Translocation, Genetic ; Young Adult

OBJECTIVE: To assess the clinical significance of emergency cerclage in the patients with advenced painless cervical dilatation. METHODS: We performed the analysis of the pregnancy outcomes of the 14 patients who underwent emergency cerclage between January 1990 and December 2001 at Seoul National University Hospital. Only singleton pregnancies were included. We compared these results with those of the 56 patients who underwent elective cerclage in the same period. RESULTS: In the patients with emergency cerclage, mean gestational age at cerclage was 20.71 +/- 3.24 weeks and mean gestational age at delivery was 29.84 +/- 7.40 weeks. The mean cerclage-to-delivery interval was 9.14 +/- 7.53 weeks and overall perinatal survival rate was 63.4%. After cerclage, rupture of membrane occurred in 2 cases (14.3%), preterm labor developed in 8 cases (57.1%) and slipping out of cerclage suture developed in 3 cases (21.4%). In comparison with elective cerclage, mean gestational age at delivery, interval between cerclage and delivery, Apgar scores at birth, perinatal death, preterm delivery rate before 28 and 32 weeks' gestation and neonatal birth weight showed worse outcome in emergency cerclage group than elective cerclage group. CONCLUSION: Although emergency cerclage shows worse outcomes than elective cerclage, it seems to be optional treatment modality for patients with painless cervical dilatation considering pregnancy prdongation and neonatal survival.
Birth Weight ; Emergencies* ; Female ; Gestational Age ; Humans ; Labor Stage, First* ; Membranes ; Obstetric Labor, Premature ; Parturition ; Pregnancy ; Pregnancy Outcome ; Rupture ; Seoul ; Survival Rate ; Sutures

Primary malignant peripheral nerve sheath tumor (MPNST) in a young female patient, not associated with neurofibromatosis type-I is extremely rare in the liver. A 33-year-old female was admitted with a right flank pain for a weak. The CT scan showed 12.5-cm-sized mass located at the right hepatic lobe. At laparotomy, about 20.0-cm-sized mass was on the right hepatic lobe with attachment to right diaphragmatic pleura. Right hepatic lobe and adherent part of diaphragmatic pleura were resected. On histology and immunohistochemistry, it was diagnosed MPNST. Adjuvant radiotherapy for the right diaphragmatic pleura and adjuvant chemotherapy with adriamycin, ifosfamide and cisplatin were sequentially performed. The prognosis of MPNST is generally poor and it is associated with a highly aggressive course of recurrence, metastases, and death. Our case is probably a first report about combination therapy.
Adult ; Chemotherapy, Adjuvant ; Cisplatin ; Doxorubicin ; Female ; Flank Pain ; Humans ; Ifosfamide ; Immunohistochemistry ; Laparotomy ; Liver ; Neoplasm Metastasis ; Neurilemmoma ; Neurofibromatoses ; Peripheral Nerves* ; Pleura ; Prognosis ; Radiotherapy, Adjuvant ; Recurrence ; Tomography, X-Ray Computed

BACKGROUND: Autologous or implant-based breast reconstruction after nipple-sparing mastectomy is increasingly preferred worldwide as a breast cancer treatment option. However, postoperative nipple-areola complex (NAC) necrosis is the most significant complication of nipple-sparing mastectomy. The purpose of our study was to identify the risk factors for NAC necrosis, and to describe the use of our skin-banking technique as a solution. METHODS: We reviewed cases of immediate autologous breast reconstruction after nipple-sparing mastectomy at our institution between June 2005 and January 2014. The patients' data were reviewed and the risk of NAC necrosis was analyzed based on correlations between patient variables and NAC necrosis. Moreover, data pertaining to five high-risk patients who underwent the donor skin-banking procedure were included in the analysis. RESULTS: Eighty-five patients underwent immediate autologous breast reconstruction after nipple-sparing mastectomy during the study period. Partial or total NAC necrosis occurred in 36 patients (43.4%). Univariate analysis and binary regression modeling found that body mass index, smoking history, radiation therapy, and mastectomy volume were significantly associated with NAC necrosis. Of the 36 cases of NAC necrosis, 31 were resolved with dressing changes, debridement, or skin grafting. The other five high-risk patients underwent our prophylactic skin-banking technique during breast reconstruction surgery. CONCLUSIONS: NAC necrosis is common in patients with multiple risk factors. The use of the skin-banking technique in immediate autologous breast reconstruction is an attractive option for high-risk patients. Banked skin can be used in such cases without requiring additional donor tissue, with good results in terms of aesthetic and reconstructive outcomes.
Bandages ; Body Mass Index ; Breast Neoplasms ; Breast* ; Debridement ; Female ; Humans ; Mammaplasty* ; Mastectomy* ; Necrosis* ; Nipples ; Risk Factors ; Skin ; Skin Transplantation ; Smoke ; Smoking ; Surgical Flaps ; Tissue Donors

Actinomyces normally colonizes the mouth, colon, and vagina. Although disruption of mucosa may lead to infection at virtually any site, central nervous system actinomycosis is rare. A 45-year-old man presented with seizure and magnetic resonance imaging showed brain abscess. He was diagnosed with actinomycotic and streptococcal infection of brain by histologic and microbiologic examination. After stereotactic aspiration and biopsy, he was treated successfully by prolonged antibiotic therapy using intravenous penicillin-G and oral amoxicillin.
Actinomyces ; Actinomycosis ; Amoxicillin ; Biopsy ; Brain ; Brain Abscess ; Central Nervous System ; Colon ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Mouth ; Mucous Membrane ; Seizures ; Streptococcal Infections ; Vagina

Actinomyces normally colonizes the mouth, colon, and vagina. Although disruption of mucosa may lead to infection at virtually any site, central nervous system actinomycosis is rare. A 45-year-old man presented with seizure and magnetic resonance imaging showed brain abscess. He was diagnosed with actinomycotic and streptococcal infection of brain by histologic and microbiologic examination. After stereotactic aspiration and biopsy, he was treated successfully by prolonged antibiotic therapy using intravenous penicillin-G and oral amoxicillin.
Actinomyces ; Actinomycosis ; Amoxicillin ; Biopsy ; Brain ; Brain Abscess ; Central Nervous System ; Colon ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Mouth ; Mucous Membrane ; Seizures ; Streptococcal Infections ; Vagina

Inferior sinus venosus type atrial septal defect (ASD) is a rare congenital cardiac deformity that occurs between the inferior vena cava and right atrium. Inferior sinus venosus defect is difficult to diagnose through transthoracic echocardiography because of its location which is infero-posterior to the fossa ovalis. Increasing pulmonary arterial pressure and pulmonary vascular resistance in patients with sinus venosus defect usually occur earlier than other types of ASD. We report a case of 19-year-old man who presented exertional dyspnea due to inferior sinus venous type ASD with mild pulmonary hypertension. In this case, we found clues from slight diastolic flattening of interventricular septum and shortened acceleration time of right ventricular outflow tract on initial transthoracic echocardiography, leading right heart catheterization and transesophageal echocardiography to reveal this rare type of ASD.
Acceleration ; Arterial Pressure ; Cardiac Catheterization ; Cardiac Catheters ; Congenital Abnormalities ; Dyspnea ; Echocardiography ; Echocardiography, Transesophageal ; Heart Atria ; Heart Septal Defects, Atrial ; Humans ; Hypertension, Pulmonary ; Vascular Resistance ; Vena Cava, Inferior ; Young Adult