This study was performed to investigate the changes of tear film and ocular surface in diabetic patients, as well as the ocular and systemic factors related to these changes. We assessed the scoring of keratoepitheliopathy, corneal sensitivity test, tear film break-up time (BUT), Schirmer test, and conjunctival impression cytology in 94 eyes of 47 patients with noninsulin-dependent diabetes mellitus and in 60 eyes of 30 normal subjects. The degree of keratoepitheliopathy was severe, and the corneal sensitivity, BUT, and tear secretion were significantly reduced in the diabetic patients. Conjunctival impression cytology showed a higher grade of conjunctival squamous metaplasia and lower goblet cell density in the diabetic patients. All parameters were related to the status of metabolic control, diabetic neuropathy, and stage of diabetic retinopathy. We think that diabetic patients with poor metabolic control, neuropathy, and advanced stage of retinopathy should be examined for tear film and ocular surface changes.
Adult ; Aged ; Comparative Study ; Corneal Diseases/etiology/*metabolism ; Diabetes Complications/*metabolism/pathology ; Epithelium, Corneal/*metabolism/pathology ; Female ; Goblet Cells/pathology ; Humans ; Male ; Middle Aged ; Risk Factors ; Tears/*metabolism

BACKGROUND: The effects of chimerism on outcomes following allogeneic hematopoietic stem cell transplantation (HSCT) are unclear and may differ between diseases. We retrospectively evaluated the association between chimerism and transplant outcomes in children with nonmalignant diseases. METHODS: Chimerism was evaluated using short-tandem repeat polymerase chain reaction (STR-PCR) in 48 patients, with mixed chimerism (MC) defined as greater than 1% recipient cells. RESULTS: The only variable exerting a significant influence on patients' chimerism status was the number of infused CD34+ cells. MC was detected in 23 transplants (9 showing transient MC; 10 with sustained low levels [< or =30%] of autologous cells; and 4 with high-level MC [>30%]). The degree of STR-PCR at 28 days after HSCT was significantly higher in patients with high-level MC than those with transient or low-level MC. All patients with transient or low-level MC successfully maintained engraftment and showed a clinical response to HSCT, whereas 2 of the 4 patients with high-level MC experienced graft failure. The incidences of grades II-IV acute and chronic graft-versus-host disease (GVHD) were significantly higher in patients with complete donor chimerism (CC) than MC. We observed no significant survival differences between CC and MC groups. However, the survival rate was lower in patients with high MC than those with low-level or transient MC (P=0.03). CONCLUSION: In non-malignant diseases, MC may indicate a tolerant state with a decreased incidence of GVHD. However, high-level MC may signify an increased risk of graft failure and a lower survival rate.
Child ; Chimerism ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Incidence ; Polymerase Chain Reaction ; Retrospective Studies ; Survival Rate ; Tissue Donors ; Transplants

Allogeneic hematopoietic stem cell transplantation (HSCT) may not be considered feasible in a patient with active fungal infection due to transplant-related mortality. We report a case of HSCT performed on a 6-month-old girl, who was diagnosed with very severe aplastic anemia (vSAA) at the age of 2 months, during active invasive pulmonary aspergillosis (IPA). Despite receiving continuous antifungal treatment and multiple granulocyte infusions, her IPA was aggravated. She underwent allogeneic HSCT from a matched sibling donor using conditioning regimen of fludarabine, reduced dose of cyclophosphamide, and anti-thymocyte globulin (ATG) during IPA. After neutrophil engraftment, fever subsided and IPA improved. She was continued on voriconazole for 7 months after HSCT. She is alive with normal hematopoiesis 4 years post-transplant. Our report suggests that allogeneic HSCT using conditioning regimen of fludarabine, reduced dose of cyclophosphamide, and ATG can be a feasible option for the patients with vSAA even during active fungal infection.
Anemia, Aplastic ; Antilymphocyte Serum ; Cyclophosphamide ; Female ; Fever ; Granulocytes ; Hematopoiesis ; Hematopoietic Stem Cell Transplantation ; Hematopoietic Stem Cells ; Humans ; Infant ; Invasive Pulmonary Aspergillosis ; Mortality ; Neutrophils ; Siblings ; Tissue Donors

Hyperintense vessels are frequently observed on fluid-attenuated inversion recovery imaging in acute ischemic stroke patients. Some investigators suggest that a hyperintense vessel sign in patients with middle cerebral arterial occlusion results from collateral blood flow originating in neighboring arterial territories, especially via pial collaterals. We report two cases of acute proximal middle cerebral arterial infarction that exhibited hyperintense vessels signs on fluid-attenuated inversion recovery imaging accompanying pial collaterals as confirmed by cerebral angiography.
Cerebral Angiography ; Cerebral Infarction ; Collateral Circulation ; Glycosaminoglycans ; Humans ; Infarction ; Infarction, Middle Cerebral Artery ; Middle Cerebral Artery ; Research Personnel ; Stroke

Symptomatic pacing lead-associated thrombosis is very uncommon occurring in 0.5-3.5% of pacemaker implants. Especially thrombisis-induced total occlusion occures almost in late stage over several months to years but acute thrombosis occurring several days after venous pacing has not been reported. In this case, We performed upper limb venography in the patient who presented edema and pain of neck, left upper limb and headache as well as intermittent cough occurring in bending forward. A venogram confirmed acute thrombus completely occluding the left brachiocephalic vein and the patient received intravenous heparin and was maintained on warfarin. Repeated veno- graphy after treatment for 30 days revealed persistent thrombus with total occlusion which not be improved signi- ficantly copmpared to previous venogram and collateral veins diverting the blood to the contralateral side and into the superior vena cava was developed. The patient's symptoms resolved almost and that is likely to be due to the development of collateral venous channels.
Brachiocephalic Veins* ; Cough ; Edema ; Headache ; Heparin ; Humans ; Neck ; Phlebography ; Thrombosis* ; Upper Extremity ; Veins ; Vena Cava, Superior ; Warfarin

BACKGROUND: TEL (ETV6)/AML1 (RUNX1) rearrangement is observed in approximately 20-25% of childhood precursor B-ALL and is associated with a favorable outcome. Additional genetic changes, associated with TEL/AML1, are frequently found. We evaluated the prevalence and prognostic significance of TEL/AML1 rearrangement and additional genetic changes in the TEL and AML1 genes in Korean childhood precursor B-ALL. METHODS: We performed FISH using LSITEL/AML1 ES probe (Vysis, USA) in 123 children diagnosed as having precursor B-ALL and assessed clinical relevance of the TEL/AML1 rearrangement and additional genetic abnormalities. RESULTS: The frequency of TEL/AML1 was 17.1% (21/123) in patients with precursor B-ALL. TEL/ AML1-positive group showed male predominance (P=0.012) and younger age of onset than TEL/ AML1-negative group by 1.6 yr (P=0.013). The outcome of TEL/AML1-positive group tended to show lower incidences of relapse (1/21 vs 20/102), death (1/21 vs 17/102) and longer event free survival. Among TEL/AML1-positive patients, unrearranged TEL deletion, AML1 gain, and unrearranged TEL deletion combined with AML1 gain were detected in 61.9%, 23.8%, and 9.5%, respectively. There were no significant differences in the clinical features and outcome according to the presence or absence of additional genetic changes. CONCLUSIONS: The frequency of TEL/AML1 and additional genetic changes in TEL and AML1 is higher than previous studies in Korean children, and in close agreement with usually reported one, 20-25%. TEL/AML1-positive group showed a tendency toward better prognosis. Further study is needed to clarify the prognostic significance of additional changes in TEL and AML1 based on a large sample size.
Age Factors ; Asian Continental Ancestry Group/*genetics ; Child ; Child, Preschool ; Core Binding Factor Alpha 2 Subunit/*genetics ; Disease-Free Survival ; Female ; Gene Deletion ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Leukocyte Count ; Male ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*genetics/mortality ; Prognosis ; Proto-Oncogene Proteins c-ets/*genetics ; Repressor Proteins/*genetics ; Republic of Korea ; Survival Rate ; *Translocation, Genetic

The combined array comparative genomic hybridization plus single-nucleotide polymorphism microarray (CGH+SNP microarray) platform can simultaneously detect copy number alterations (CNA) and copy-neutral loss of heterozygosity (LOH). Eighteen children with acute myeloid leukemia (AML) (n=15) or myelodysplastic syndrome (MDS) (n=3) were studied using CGH+SNP microarray to evaluate the clinical significance of submicroscopic chromosomal aberrations. CGH+SNP microarray revealed CNAs at 14 regions in 9 patients, while metaphase cytogenetic (MC) analysis detected CNAs in 11 regions in 8 patients. Using CGH+SNP microarray, LOHs>10 Mb involving terminal regions or the whole chromosome were detected in 3 of 18 patients (17%). CGH+SNP microarray revealed cryptic LOHs with or without CNAs in 3 of 5 patients with normal karyotypes. CGH+SNP microarray detected additional cryptic CNAs (n=2) and LOHs (n=5) in 6 of 13 patients with abnormal MC. In total, 9 patients demonstrated additional aberrations, including CNAs (n=3) and/or LOHs (n=8). Three of 15 patients with AML and terminal LOH>10 Mb demonstrated a significantly inferior relapse-free survival rate (P=0.041). This study demonstrates that CGH+SNP microarray can simultaneously detect previously cryptic CNAs and LOH, which may demonstrate prognostic implications.
Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; *Comparative Genomic Hybridization ; DNA/*analysis/metabolism ; DNA Copy Number Variations ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Infant ; Kaplan-Meier Estimate ; Leukemia, Myeloid, Acute/*diagnosis/*genetics/therapy ; Loss of Heterozygosity ; Male ; Myelodysplastic Syndromes/*diagnosis/*genetics/therapy ; *Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction ; Transplantation, Homologous

BACKGROUND: Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children. Alveolar RMS (ARMS) is characterized by FOXO1-related chromosomal translocations that result in a poorer clinical outcome compared with embryonal RMS (ERMS). Because the chromosomal features of RMS have not been comprehensively defined, we analyzed the clinical and laboratory data of childhood RMS patients and determined the clinical significance of chromosomal abnormalities in the bone marrow. METHODS: Fifty-one Korean patients with RMS < 18 years of age treated between 2001 and 2015 were enrolled in this study. Clinical factors, bone marrow and cytogenetic results, and overall survival (OS) were analyzed. RESULTS: In total, 36 patients (70.6%) had ERMS and 15 (29.4%) had ARMS; 80% of the ARMS patients had stage IV disease. The incidences of bone and bone marrow metastases were 21.6% and 19.6%, respectively, and these results were higher than previously reported results. Of the 40 patients who underwent bone marrow cytogenetic investigation, five patients had chromosomal abnormalities associated with the 13q14 rearrangement. Patients with a chromosomal abnormality (15 vs 61 months, P=0.037) and bone marrow involvement (17 vs 61 months, P=0.033) had a significantly shorter median OS than those without such characteristics. Two novel rearrangements associated with the 13q14 locus were detected. One patient with concomitant MYCN amplification and PAX3/FOXO1 fusion showed an aggressive clinical course. CONCLUSIONS: A comprehensive approach involving conventional cytogenetics and FOXO1 FISH of the bone marrow is needed to assess high-risk ARMS patients and identify novel cytogenetic findings.
Arm ; Bone Marrow* ; Child* ; Chromosome Aberrations ; Cytogenetics* ; Humans ; Incidence ; Neoplasm Metastasis ; Rhabdomyosarcoma* ; Sarcoma ; Translocation, Genetic

PURPOSE: To tabulate underlying disease and to assess the clinical significance of CT-diagnosed spontaneouspneumonediastinum. MATERIALS AND METHODS: We retrospectively reviewed CT scans and medical records of 11consecutive patients with spontaneous pneumomediastinum, and analyzed their clinical history and course, and infive cases, pulmonary function. CT scans of 126 patients with idiopathic pulmonary fibrosis (IPF) collected whilethe 11 consecutive patients were being treated were analyzed for the prevalence of pneumomediastinum. We analyzedCT findings with respect to the amount and distribution of air in the mediastinum, and the presence or absence ofair outside the mediastinum. RESULTS: In the 11 patients, underlying diseases were IPF (n=4), bronchiolitisobliterans organizing pneumonia (BOOP)(n=2), bronchiectasis (n=2), tuberculous tracheal stenosis (n=1), andpulmonary tuberculosis with bullous emphysema (n=1); there was one without associated disease. Of the 126 patientswith IPF, four (3.2%) showed spontaneous pneumomediastinum. All ten with underlying diseases had severe dyspnea.In five patients, a pulmonary function test showed marked impairment. Two of four patients with IPF and both withBOOP died within 2 months of CT scanning, whereas the remaining six showed clinical improvement. The detectionrate of pneumomediastinum on plain chest radiograph was 82% (9/11). CT showed that mediastinal air was mostfrequently found in the retrosternal space. There were four cases of pneumothorax and two of subcutaneousemphysema. CONCLUSION: Spontaneous pneumomediastinum might be associated with idiopathic pulmonary fibrosis andmight be a poor prognostic factor in patients with IPF or BOOP.
Bronchiectasis ; Cryptogenic Organizing Pneumonia ; Emphysema ; Humans ; Idiopathic Pulmonary Fibrosis ; Mediastinal Emphysema* ; Mediastinum ; Medical Records ; Pneumonia ; Pneumothorax ; Prevalence ; Radiography, Thoracic ; Respiratory Function Tests ; Retrospective Studies ; Tomography, X-Ray Computed ; Tracheal Stenosis ; Tuberculosis

PURPOSE: To compare corneal sensitivity and recovery of corneal innervations after a temporal clear corneal incision in cataract surgery. METHODS: We measured changes to corneal sensitivity using Cochet-Bonnet esthesiometer in 25 eyes of 20 patients and analyzed corneal nerve density with confocal microscopy in 20 eyes of 20 patients who had undergone cataract surgery. The parameters were measured before, and at 1 week, 1 month, and 3 months after cataract surgery. RESULTS: The mean preoperative corneal sensitivity was 56.40+/-3.39 mm at the temporal corneal incision site, and there was a significantly decreased sensitivity of 29.80+/-2.69 mm and 42.40+/-4.36 mm postoperatively at 1 week and 1 month, respectively. Nonetheless, by three months, corneal sensitivity had returned to 56.00+/-2.89 mm and was not significantly different from measurements prior to the cataract surgery. The mean preoperative subbasal nerve density was 5296+/-1642 micrometer/mm2. After cataract surgery, the subbasal nerve density was significantly reduced to 4113+/-1421, 3555+/-1448, 4198+/-1239 micrometer/mm2 at 1 week, 1 month, and 3 months, respectively. CONCLUSIONS: Corneal sensitivity after cataract surgery returned to near preoperative levels within 3 months before complete restoration of normal corneal innervations. Therefore, regeneration of subbasal nerve fibers (, as determined by confocal microscopy,) requires more time than the return of corneal sensation after cataract surgery.
Cataract* ; Humans ; Microscopy, Confocal ; Nerve Fibers ; Regeneration ; Sensation