Renal tubular dysgenesis (RTD) is a rare fatal disorder in which there is poor development of proximal tubules, leading to oligohydramnios and the Potter sequences. RTD occurs secondary to renin-angiotensin system (RAS) blockade during the early stages of fetal development or due to autosomal recessive mutation of genes in the RAS pathway. A boy born at 33+1 weeks due to cord prolapse was found to be anuric and hypotensive. Pregnancy was complicated by severe oligohydramnios from gestational age 28+4 weeks. Abdominal sonography revealed diffuse globular enlargement of both kidneys with increased cortical parenchymal echogenicity. Infantogram showed a narrow thoracic cage and skull X-ray showed large fontanelles and wide sutures suggestive of ossification delay. Basal plasma renin activity was markedly elevated and angiotensin-converting enzyme was undetectable. Despite adequate use of medications, peritoneal dialysis, and respiratory support, he did not recover and expired on the 23rd day of life. At first, autosomal recessive polycystic kidney disease was suspected, but severe oligohydramnios along with refractory hypotension, anuria, skull ossification delay and high renin levels made RTD suspicious. ACE gene analysis revealed compound heterozygous pathogenic variations of c.1454.dupC in exon 9 and c.2141dupA in exon 14, confirming RTD. Based on our findings, we propose that, although rare, RTD should be suspected in patients with severe oligohydramnios and refractory hypotension.

BACKGROUND: The number of CD34+ cells in a peripheral blood stem cell collection is the key factor in predicting successful treatment of hematologic malignancies. Korean Red Ginseng (KRG) (Panax ginseng C.A. Meyer) is the most popular medicinal herb in Korea. The objective of this study was to determine the effect of KRG on hematopoietic colony formation. METHODS: Bone marrow (BM) samples were obtained from 8 human donors after acquiring informed consent. BM mononuclear cells (MNCs) were isolated, and CD34+ cells were sorted using magnetic beads. The sorted CD34+ cells were incubated with or without total extract of KRG (50 microg/mL, 100 microg/mL) or Ginsenoside Rg1 (100 microg/mL), and the hematopoietic colony assay was performed using methylcellulose semisolid medium. The CD34+ cell counts were measured by a single platform assay using flow cytometry. RESULTS: The numbers of human BM-MNCs and CD34+ cells obtained after purification were variable among donors (5.6x10(7) and 1.3-48x10(7) and 8.9x10(4) and 1.8-80x10(4), respectively). The cells expanded 1,944 times after incubation for 12 d. Total extract of KRG added to the hematopoietic stem cell (HSC)-specific medium increased CD34+ cell counts 3.6 times compared to 2.6 times when using HSC medium alone. Total numbers of hematopoietic colonies in KRG medium were more than those observed in conventional medium, especially that of erythroid colonies such as burst forming unit-erythroid. CONCLUSION: Total extract of KRG facilitated CD34+ cell expansion and hematopoietic colony formation, especially of the erythroid lineage.
Antigens, CD34 ; Bone Marrow* ; Cell Count ; Flow Cytometry ; Hematologic Neoplasms ; Hematopoietic Stem Cells ; Humans ; Informed Consent ; Korea ; Medicine, Korean Traditional ; Methylcellulose ; Panax* ; Plants, Medicinal ; Stem Cells ; Tissue Donors

We report a case of ruptured mycotic aneurysm involving innominate artery requiring an urgent surgical treatment. A 62-yr-old woman presented with fever and dyspnea. Previously, she was diagnosed with colon cancer and received right hemicolectomy and one cycle of adjuvant chemotherapy. On echocardiogram, pericardial effusion was noted and emergency pericardiocentesis was performed. CT scan revealed aortic aneurysm involving ascending aorta and innominate artery, and thrombi surrounding those structures. Patch repair of the defect in the ascending aorta and ringed Goretex graft to bypass the innominate and ascending aorta were performed. We believe that this is the first case of ruptured mycotic aneurysm involving innominate artery.
Aneurysm, Infected/*surgery ; Aorta/pathology ; Aortic Aneurysm/surgery ; Brachiocephalic Trunk/pathology ; Colonic Neoplasms/drug therapy/surgery ; Female ; Human ; Middle Aged ; Tomography, X-Ray Computed ; Transplants

BACKGROUND: Autologous peripheral blood-stem cell transplantation (autoPBSCT) is the treatment of choice for hematologic malignancy, because the technique requires neither general anesthesia nor surgical intervention, amongst many other advantages. Despite these benefits, the risk of hematologic malignancy, as well as the effect of patient age and sex on the prediction of successful collection of autoPBSCT are still unclear. The purpose of this study was to examine whether the hematologic diagnosis of the disease, and age or sex affect the mobilization of CD34+ cells and mononuclear cells. METHODS: We retrospectively investigated 30 (6 multiple myeloma, 11 diffuse large B-cell lymphoma, 8 acute myeloid leukemia, 2 acute lymphoid leukemia, and 3 T-cell lymphoma) patients who underwent autoPBSCT between 2008 and 2011 at Daegu Catholic University Hospital. RESULTS: Patients with multiple myeloma had the highest average of both mononuclear cell (MNC) (2.07+/-0.67x10(8) cells/kg) and CD34+ cell (1.28+/-0.58x10(6) cells/kg) counts. Patients with T-cell lymphoma had both the lowest MNC (1.23+/-0.49x10(8) cells/kg) and CD34+ cell (0.20+/-0.6x10(6) cells/kg) counts. Male patients showed greater collected CD34+ cell counts (0.96+/-1.38x10(6) cells/kg) and MNC counts (1.71+/-0.76x10(8) cells/kg) than the female patients. Patients under the age of 44 had higher collected CD34+ cell counts (0.96+/-1.37x10(6) cells/kg) but lower counts of MNC (1.49+/-0.74x10(8) cells/kg). CONCLUSIONS: The collected MNC and CD34+ cell counts varied between the types of malignancies, and with respect to sex and age. However, only collected MNC counts were significantly different (P<0.05) among the different types of malignancies.
Anesthesia, General ; Autografts* ; Cell Count ; Cell Transplantation ; Daegu ; Diagnosis ; Female ; Hematologic Neoplasms* ; Humans ; Leukemia, Myeloid, Acute ; Lymphoma, B-Cell ; Lymphoma, T-Cell ; Male ; Multiple Myeloma ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Retrospective Studies ; Stem Cells* ; T-Lymphocytes ; Transplantation, Autologous* ; Transplants

Arcanobacterium haemolyticum is a beta-hemolytic coryneform bacillus. It has been implicated as an etiologic agent of non-streptococcal pharyngitis and less frequently a cause of skin and wound infections, osteomyelitis, pneumonia, endocarditis, sepsis, and central nervous system infections. We describe a case of A. hemolyticum sepsis reported for the first time in Korea. A 61-year-old man with a diabetic foot was admitted due to a high fever. Three sets of blood cultures taken at the emergency room yielded coryneform bacilli. The organism was beta-hemolytic on blood agar plate, catalase-negative, and non-motile. It was identified as A. haemolyticum by Rapid CB Plus (Remel, Kansas, USA) and API Coryne (BioMerieux SA, Marcy l`Etoile, France) and confirmed by CAMP inhibition reaction. It was susceptible to penicillin, ceftriaxone, erythromycin, ciprofloxacin, and vancomycin by the disk diffusion method using the breakpoint criteria of National Committee for Clinical Laboratory Standards for streptococci other than Streptococcus pneumoniae. The patient was improved with partial amputation of the right big toe and antimicrobial therapy with ampicillin/sulbactam. If Arcanobacterium is isolated from normally sterile sites or culture specimens properly collected from infected tissues, it should be identified to the species level. Commercial biochemical test kits specialized in corynebacteria and CAMP test are useful for species identification of A. haemolyticum.
Agar ; Amputation ; Arcanobacterium* ; Bacillus ; Ceftriaxone ; Central Nervous System Infections ; Ciprofloxacin ; Diabetic Foot ; Diffusion ; Emergency Service, Hospital ; Endocarditis ; Erythromycin ; Fever ; Humans ; Kansas ; Korea ; Middle Aged ; Osteomyelitis ; Penicillins ; Pharyngitis ; Pneumonia ; Sepsis* ; Skin ; Streptococcus pneumoniae ; Toes ; Vancomycin ; Wound Infection

BACKGROUND: Cluster headache is a primary headache disorder characterized by periodic episodes of intense headache accompanied by autonomic symptoms. We report an unusual clinical presentation of cluster headache that was preceded by myoclonus and accompanied by hemiparesis. CASE REPORT: A 26-year-old man visited hospital due to recurrent jerky movements on the left side of his face and neck area lasting 3 days. These jerky movements had disappeared spontaneously without specific treatment. On the 10th day after onset of the jerky movements, the patient developed a series of unilateral severe headaches that were accompanied by autonomic symptoms lasting 1-2 hours. According to the second edition of The International Classification of Headache Disorders, he was diagnosed as having cluster headache. Two of the 16 severe headache attacks this patient suffered were accompanied by dysarthria and hemiparesis. Electroencephalography performed during hemiparesis revealed diffuse lateralized slow activity on the ipsilateral hemisphere of the headache side. The headache and accompanying hemiparesis disappeared after medical treatment for cluster headache. CONCLUSIONS: We describe a case of cluster headache accompanied by hemiparesis, which was preceded by myoclonus. We also outline the possible mechanisms underlying this case.
Adult ; Cluster Headache ; Dysarthria ; Electroencephalography ; Headache ; Headache Disorders ; Headache Disorders, Primary ; Humans ; Myoclonus ; Neck ; Paresis

PURPOSE: Given the promising activity of capecitabine and vinorelbine in metastatic breast cancer, this randomized phase II trial evaluated the efficacy and safety of this combination as neoadjuvant chemotherapy in breast cancer. MATERIALS AND METHODS: Patients with operable breast cancer (n=75) were randomly assigned to receive either four cycles of adriamycin 60 mg/m2 plus cyclophosphamide 600 mg/m2 every 3 weeks followed by four cycles of docetaxel 75 mg/m2 every 3 weeks (AC-D) or four cycles of capecitabine 2,000 mg/m2 (day 1-14) plus vinorelbine 25 mg/m2 (days 1 and 8) every 3 weeks followed by four cycles of docetaxel 75 mg/m2 (CV-D). The primary endpoint was pathologic complete response (pCR) in the primary breast (ypT0/is). RESULTS: Most patients (84%) had locally advanced (n=41) or inflammatory breast cancer (n=22). pCR rates in the primary breast were 15% (95% confidence interval [CI], 7% to 30%) and 11% (95% CI, 4% to 26%) in the AC-D and CV-D groups, respectively. The overall response rates and 5-year progression-free survival rates in the AC-D and CV-D groups were 62% and 64%, and 51.3% (95% CI, 34.6% to 68.0%) and 30.2% (95% CI, 13.3% to 47.1%), respectively. Although both regimens were well tolerated, CV-D showed less frequent grade 3-4 neutropenia and vomiting than AC-D, whereas manageable diarrhea and hand-foot syndrome were more common in the CV-D group. CONCLUSION: CV-D is a feasible and active non-anthracycline-based neoadjuvant chemotherapy regimen for breast cancer.
Anthracyclines ; Breast ; Breast Neoplasms* ; Cyclophosphamide* ; Diarrhea ; Disease-Free Survival ; Doxorubicin* ; Drug Therapy* ; Hand-Foot Syndrome ; Humans ; Inflammatory Breast Neoplasms ; Neoadjuvant Therapy ; Neutropenia ; Polymerase Chain Reaction ; Vomiting

PURPOSE: Although most patients with stage I breast cancer have a good prognosis, their clinical outcomes may vary significantly. We assessed clinical outcomes and prognostic factors in stage I breast cancer patients with and without triple-negative breast cancer (TNBC) phenotype. METHODS: Of 2,489 patients undergoing breast cancer surgery between January 1998 and December 2002, 554 (22.3%) had stage I breast cancer (tumor size < or =2 cm, and lymph node-negative). TNBC was defined as a primary tumor negative for estrogen and progesterone receptors (Allred scores <3/8) and for HER2/neu (0-1+ by immunohistochemistry). RESULTS: Of the 554 patients with stage I breast cancer, 78 (14.1%) had TNBC. A significant proportion of TNBC patients had histologic grade 3 tumors (47.4% vs. 34.5%, p=0.031) and tumors >1 cm (87.2% vs. 75.8%, p=0.028) and received adjuvant chemotherapy (79.5% vs. 44.7%, p<0.001). During a median follow-up time of 8.7 years, 72 patients experienced tumor recurrences; 18 (23.1%) in the TNBC group and 54 (11.3%) in the non-TNBC group (p=0.010), with cumulative 3-year rate of recurrence of 12.8% and 5.3%, respectively (p=0.010). Ten-year relapse-free survival (RFS; 75.6% vs. 87.5%, p=0.004) and overall survival (OS; 83.0% vs. 91.4%, p=0.002) rates were significantly lower in the TNBC group. Multivariate analysis showed that triple negativity and histologic grade were independent predictors of shorter RFS and OS. CONCLUSION: TNBC had more aggressive clinicopathologic characteristics and was associated with poorer survival in patients with stage I breast cancer. More intensive adjuvant chemotherapy or a different therapeutic strategy targeting this population is warranted.
Breast ; Breast Neoplasms ; Chemotherapy, Adjuvant ; Estrogens ; Follow-Up Studies ; Humans ; Multivariate Analysis ; Phenotype ; Prognosis ; Receptors, Progesterone ; Recurrence