Patau syndrome, or Trisomy 13 is one of the most common autosomal aberration associtated with multiple congenital abnormalities. We report a case with trisomy 13 mosacism which was found during an amniocentesis performed due to the age of the mother and abnormal nuchal translucency. The clinical features of fetus included cleft lip and palate, low set ears, polydactily, small ""micro"" penis, and Rocker-bottom feet. After termination of the pregnancy, the fetus was sent for an autopsy. The autopsy report was compatible with the gross findings and pulmonary hypoplasia, microophthalmia, hypoplasia of left ventricle of heart were found.
Amniocentesis ; Autopsy ; Cleft Lip ; Congenital Abnormalities ; Ear ; Fetus ; Foot ; Heart ; Heart Ventricles ; Humans ; Male ; Mothers ; Nuchal Translucency Measurement ; Palate ; Penis ; Pregnancy* ; Trisomy

Segmental dilatation of small intestine or colon can induce signs of intestinal obstruction, such as abdominal distension, vomiting and constipation. There are no anatomical gross obstructive lesions, and moreover, ganglion cells are observed in both dilated and undilated distal segments of the intestine. It often accompanied by other congenital anomalies. We reported two cases of segmental dilatation of the intestine in the newborn infants, one in small intestine and the other in colon, with brief review of the related literatures.
Colon ; Constipation ; Dilatation* ; Ganglion Cysts ; Humans ; Infant, Newborn* ; Intestinal Obstruction ; Intestine, Small ; Intestines* ; Vomiting

OBJECTIVES: For successful adoption of legislation controlling registration and assessment of chemical substances, it is important to obtain sufficient toxicological experimental evidence and other related information. It is also essential to obtain a sufficient number of predicted risk and toxicity results. Particularly, methods used in predicting toxicities of chemical substances during acquisition of required data, ultimately become an economic method for future dealings with new substances. Although the need for such methods is gradually increasing, the-required information about reliability and applicability range has not been systematically provided. METHODS: There are various representative environmental and human toxicity models based on quantitative structure-activity relationships (QSAR). Here, we secured the 10 representative QSAR-based prediction models and its information that can make predictions about substances that are expected to be regulated. We used models that predict and confirm usability of the information expected to be collected and submitted according to the legislation. After collecting and evaluating each predictive model and relevant data, we prepared methods quantifying the scientific validity and reliability, which are essential conditions for using predictive models. RESULTS: We calculated predicted values for the models. Furthermore, we deduced and compared adequacies of the models using the Alternative non-testing method assessed for Registration, Evaluation, Authorization, and Restriction of Chemicals Substances scoring system, and deduced the applicability domains for each model. Additionally, we calculated and compared inclusion rates of substances expected to be regulated, to confirm the applicability. CONCLUSIONS: We evaluated and compared the data, adequacy, and applicability of our selected QSAR-based toxicity prediction models, and included them in a database. Based on this data, we aimed to construct a system that can be used with predicted toxicity results. Furthermore, by presenting the suitability of individual predicted results, we aimed to provide a foundation that could be used in actual assessments and regulations.
Humans ; Quantitative Structure-Activity Relationship* ; Reproducibility of Results ; Social Control, Formal

Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-old man was admitted to our hospital with progressive lethargy and confusion. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. A plasma amino acid and urine organic acid analysis revealed OTC deficiency. Despite the administration of a lactulose enema, the patient's serum ammonia level increased and he remained confused, leading us to initiate acute hemodialysis. After treatment with arginine, sodium benzoate and hemodialysis, the patient's serum ammonia level stabilized and his mental status returned to normal.
Age of Onset ; Ammonia/blood ; Arginine/therapeutic use ; Citrulline/blood ; Humans ; Hyperammonemia/*etiology ; Male ; Middle Aged ; Ornithine/blood ; Ornithine Carbamoyltransferase Deficiency Disease/complications/*diagnosis/drug therapy ; Pedigree ; Renal Dialysis ; Sodium Benzoate/therapeutic use

The picosecond lasers have shown to effectively treat tattoo pigments that are intractable to previous multiple Q-switched (QS) laser treatments. Therefore we hypothesized that a picosecond laser would show better efficacy with minimal adverse events in the treatment of melasma and post-inflammatory hyperpigmentation (PIH) that are difficult to treat with conventional QS lasers. Two patients with melasma and one patient with PIH were treated with a Picosecond 755-nm Alexandrite Laser (Cyanosure, USA). All patients were Korean with skin type IV and no longer responding to QS laser treatments. Laser treatment was well tolerated in all the patients. Adverse events such as PIH were not reported during 8 weeks of follow up period. After the multiple treatment sessions, one patient reported fair improvement and two patients reported good improvement. Consistent with the clinical results, ex vivo skin model irradiated with a Picosecond 755-nm Alexandrite Laser also showed decreased epidermal keratinocyte necrosis compared with the 532-nm QS Neodymium-Doped Yttrium Aluminium Garnet Laser (Lutronic, Korea) yet decreased melanin content. In conclusion, the Picosecond 755-nm Alexandrite Laser may be useful for effective treatment of intractable melasma and PIH with fewer adverse events in dark Asian skin.
Asian Continental Ancestry Group* ; Follow-Up Studies ; Humans ; Hyperpigmentation* ; Keratinocytes ; Lasers, Solid-State* ; Melanins ; Melanosis* ; Necrosis ; Skin ; Yttrium

OBJECTIVE: To determine whether the rehabilitation desire of stroke patients in post-acute rehabilitation facilities was suitable to objective parameters, and to figure out the discharge plan after post-acute rehabilitation facilities. METHOD: 107 stroke patients in post-acute rehabilitation facilities were included. In order to identify rehabilitation desire, interviews were conducted among patients or their family members in a direct line. Discharge plans of patients after post-acute rehabilitation facilities were surveyed. All participants completed demographic measures, Mini Mental Status Examination (MMSE), Korean Modified Barthel Index (K-MBI) and International Classification of Functioning, Disability and Health (ICF) core set for patients with neurological problems in post-acute rehabilitation facilities to determine the influences on rehabilitation desire. RESULTS: Most (81.3%) of the patients desired more intensive rehabilitation service and 65 patients (60.7%) purposed to get physical therapy focused on motor recovery. Only 24 patients (22.4%) planned home discharge, most (67.3%) of them did re-admission. CONCLUSION: The desire of patients in post-acute rehabilitation facilities would have a tendency of hospital staying for motor recovery in large percentage of patients. Rehabilitation desire and goal were not affected by the affected side and onset duration. Social support and extended educational program for rehabilitation for the patients and their relatives should be performed to overcome these problems.
Humans ; International Classification of Functioning, Disability and Health ; Rehabilitation* ; Stroke*

Purpose: Successful tumor eradication primarily depends on generation and maintenance of a large population of tumor-reactive CD8 T cells. Dendritic cells (DCs) are well-known potent antigen-presenting cells and have applied to clinics as potent antitumor therapeutic agents. However, high cost and difficulty in obtaining sufficient amounts for clinical use are the crucial drawbacks of DC-based vaccines. Here, we aimed to develop T cell–based vaccine capable of eliciting potent antitumor therapeutic effects by providing effective costimulatory signals. Materials and Methods: Antigenic peptide-loaded T cells transfected with retrovirus encoding costimulatory ligands CD70, CD80, OX40L, or 4-1BBL were assessed for antigen-specific CD8 T-cell responses and evaluated antitumor effects along with immunization of a mixture of synthetic peptides, poly-IC and anti-CD40 antibodies (TriVax). Results: T cells expressing CD70 (CD70-T) exhibited similar level of stimulatory functionality and therapeutic efficacy as DCs. Moreover, CD70-T prime followed by TriVax booster heterologous vaccination elicited therapeutic antitumor effect against B16 melanoma where mediated by CD8 T cells but not CD4 T cells or natural killer cells. The combination with programmed death-ligand 1 blockade led to potent therapeutic efficacy which exhibited increased tumor-infiltrating CD8 T cells. CD70-T pulsed with multi-antigenic peptide generated multiple antigen-specific polyvalent CD8 T cells that were capable of inhibiting tumor growth effectively. Moreover, CD70-T vaccination resulted in higher expansion and migration of adoptively transferred T cells into tumor sites and elicits enhanced therapeutic effects with peptide-based booster immu-nization. Conclusion These results imply that T cells endowed with CD70 enable the design of effective vaccination strategies against solid cancer, which may overcome current limitations of DC-based vaccines.

Renal infarction usually occurs in patients with atrial fibrillation, valvular heart disease, trauma, renal artery stenosis, atherosclerosis and coagulopathy. However it may occur rarely in patients without such underlying disease. We report on 3 patients who developed renal infarction and had no underlying disease. In two cases, renal artery thrombosis occured. And in the other case, renal artery dissection occured. All patients of the renal infarction experienced severe flank pain. And increased serum LDH, ALT and ALP was noted. The differential diagnosis of renal artery dissection and renal artery thrombosis was established by renal artery angiography. In two patients with renal artery thrombosis, anticoagulation therapy was performed. In the other patient with renal artery dissection, only conservative therapy was performed. All 3 patients of renal infarction preserved normal renal function. but developed hypertension. Two patients were given anti-hypertensive agents. In the other patient, hypertension was normalized spontaneously.
Adult* ; Angiography ; Antihypertensive Agents ; Atherosclerosis ; Atrial Fibrillation ; Diagnosis, Differential ; Flank Pain ; Heart Valve Diseases ; Humans ; Hypertension ; Infarction* ; Renal Artery ; Renal Artery Obstruction ; Thrombosis

PURPOSE: We evaluated clinical manifestations and laboratory findings in patients with measles according to age distribution. METHODS: Retrospective analyses were performed using medical records of patients with measles admitted to The Catholic University of Korea, Daejon St. Mary's Hospital from October 2000 to May 2001. We divided the patients with measles into three age groups, i.e., those who were under two years of age(159 patients), those between 9-11 years of age(39 patients), and those older than 16 years of age who were hospitalized in the department of internal medicine(young adult group; 23 patients). We compared clinical and laboratory characteristics among these three groups. RESULTS: Almost all patients with measles were presented with fever, skin rash and cough. No statistical differences were present between the three groups in total fever duration, number of hospitalization days, complications determined with longer hospitalization for more than eight days, and positive values of anti-measles IgM. Patients under 2 years of age showed statistically higher levels of white bood cell and lymphocyte counts. However, neutropenia and lymphopenia were observed in all age groups compared with age-matched standard values. Campared with the other two age groups, the young adult group showed a higher mean level of liver enzymes(AST/ALT) and more patients with a level twice as high as the normal values. CONCLUSION: Clinical manifestations including complications according to age groups showed no significant differences in patients with measles. Hepatic involvement was more prevalent in the young adult group.
Adult ; Male ; Female ; Humans

OBJECTIVE: Arsenic trioxide (As2O3) is known to have potent anti-vascular activity and significantly suppress solid tumor growth. The present study was conducted to investigate the vascular shutdown effects of a novel arsenic compound, tetraasrsenic oxide (As4O6), in comparison with As2O3 using cervical cancer animal model. METHODS: Mice tumor challenge model was used C57BL/6 mice transplanted with TC-1 cells. After the growth of tumors was reached up 200~250 mm3, mice were divided into 3 groups randomly for control and treatment of either As2O3 or As4O6. As2O3 and As4O6 was treated by i.p. injection. The tumor size was caliperated in twice for weeks and anti-vascular effect were assessed by Evans blue extraction assay and Hoechst 33342 staining. In tumor tissue, histopathological feaure was obserevd by hematoxylin and eosin (H&E) staining. RESULTS: In mice treated with either As2O3 and As4O6 (i.p.), both of As2O3 and As4O6 was significantly suppressed the tumor growth compared with control group. Moreover, effect of As4O6 is more pronounced. These tumor growth inhibition is led to the massive necrosis and vacular shutdown in tumor tissue. CONCLUSION: This study suggests that As4O6 may have potential anticancer activity via vascular shutdown in C57BL/6 mice transplanted with TC-1 cells.
Animals ; Arsenic ; Arsenicals ; Benzimidazoles ; Eosine Yellowish-(YS) ; Evans Blue ; Hematoxylin ; Mice ; Models, Animal ; Necrosis ; Oxides ; Transplants ; Uterine Cervical Neoplasms