DNA profiling with sets of short tandem repeat (STR) markers is the most popular method for identifying human DNA in forensics. Identification by STR typing might fail when DNA is degraded or is present in low amounts, such as in disaster victim identification (DVI) samples. In such cases, more information might be obtained by using additional markers such as single nucleotide polymorphisms (SNPs). Multiplex PCR and microarray are convenient techniques to analyze SNP markers. We used an AccuID(TM) Chip, SNP-based DNA chip manufactured by DNA Link Corporation, to confirm genetic relationship between two human bone samples that had been buried for more than 50 years and blood samples from the alleged descendants of the sources of the bone fragments. The chip combines an Affymetrix resequencing array with a multiplex PCR technology and can genotype hundreds of SNP markers in a single experiment. Genotyping the two bone samples yielded 90.5 and 77 SNP markers. The commonly genotyped markers (61 and 47 SNP loci) in each bone-family pair provided high paternity indices to support the genetic relationships in both cases.
Disasters ; DNA Fingerprinting ; DNA* ; Forensic Anthropology* ; Genotype ; Humans* ; Microsatellite Repeats ; Multiplex Polymerase Chain Reaction ; Oligonucleotide Array Sequence Analysis* ; Paternity ; Polymorphism, Single Nucleotide

Serum is free of cellular components. Because DNA is located in the nuclei or mitochondria of cells, serum could be assumed DNA free. Few previously published case reports to date have used serum for DNA typing. Here, we report on human genotyping via short tandem repeat (STR) analysis using serum as a sample, and discuss problems involved in the process.
DNA Fingerprinting* ; DNA* ; Humans ; Microsatellite Repeats* ; Mitochondria

In order to determine paternity by genetic testing, the Paternity Index (PI) and probability of paternity are calculated using likelihood ratio method. However, when it is necessary, additional testing can be performed to validate the genetic relationship. This research demonstrates autosomal short tandem repeat (STR) results of Jeju Island population in order to determine genetic relationship. Two notable cases showed that despite the acceptable PI value obtained from STR testing, average of 12 mismatches were found in total of 169 autosomal single nucleotide polymorphism typing. Such cases imply that cautious statistical approach is necessary when determining genetic relationship, especially within an isolated population group. Moreover, this would suggest that a further research and investigation are needed in order to understand the population structure of Korea.
Genetic Testing ; Humans ; Korea ; Microsatellite Repeats ; Oligonucleotide Array Sequence Analysis ; Paternity* ; Polymorphism, Single Nucleotide ; Population Groups

Objective of this study was to look into sleep patterns of university students in association with their lifestyle, specifically to examine mean sleep duration, prevalence of sleep disturbances and their correlates. This study also aimed to examine a possible association of sleep patterns of young adults with new media like computers and videos, which were supposed to have a great influence on their lifestyle. Self-reported sleep data were derived from questionnaires administered to a total of 1,414 students of one university located in Chullabuk-do, Korea. Statistical methods such as t-test, analyses of variance, chi-square test and multivariate logistic regression were used for analysis. The mean sleep duration of the respondents was 6.7+/-1.3 hr. Of the respondents, 30.2% reported having insufficient sleep. About one third of them pointed to visual media including computers as the primary reason. The proportion of those having some types of sleep disturbances was 36.2%. The risk of subjective sleep disturbances was significantly lower among those perceiving themselves healthy than among those perceiving themselves unhealthy (OR=0.44; 95% CI: 0.34-0.57).
Adult ; Female ; Human ; Logistic Models ; Male ; Prevalence ; *Sleep ; Sleep Disorders/*epidemiology ; Students ; Time Factors ; Universities

Lesch-Nyhan syndrome is an inborn error of purine metabolism resulting from hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) deficiency and leading to excess purine production and uric acid over-production. It is a very rare X-linked recessive disorder, characterized by movement disorder, cognitive deficits, and self-injurious behavior. However, because of the high incidence of calculi, patients may present for surgery of urinary tract, and have increased risk of difficult intubation, aspiration pneumonia, renal insufficiency or sudden death. We report the case of a 5-year-old boy with Lesch-Nyhan syndrome who underwent successive extracorporeal shockwave lithotripsy under general anesthesia.
Anesthesia, General ; Calculi ; Child ; Death, Sudden ; Humans ; Incidence ; Intubation ; Lesch-Nyhan Syndrome ; Lithotripsy ; Movement Disorders ; Pneumonia, Aspiration ; Preschool Child ; Purines ; Renal Insufficiency ; Self-Injurious Behavior ; Uric Acid ; Urinary Tract

Localized scleroderma is a connective-tissue disorder that is limited to the skin and subcutaneous tissue, sometimes involving muscles beneath the cutaneous lesions. Although it is usually a self-limiting disease, complications like growth failure, joint contractures, deformities and functional impairment may occur resulting in significant morbidity. Herein we report a 9-year-old girl who presented with hemiatrophy as a major clinical feature associated with widespread multiple hyperpigmented sclerotic plaques. The patient proved to be a relatively rare case of hemiatrophy secondary to extensive generalized morphea also having complicating features of joint contracture and growth failure of involved extremities.
Child ; Congenital Abnormalities ; Contracture ; Extremities ; Female ; Humans ; Joints ; Muscles ; Scleroderma, Localized* ; Skin ; Subcutaneous Tissue

We report an autopsy case of the brain stem glioma that extended extensively in the brain stem itself and cephalad. This 18-year-old boy first presented with dizziness, vomiting and left side weakness with left facial palsy. Brain MRI revealed a diffusely infiltrative tumor involving whole medulla, pons and lower midbrain. A total of 4000 R was given with some alleviation of respiratory difficulty. He died one year after the onset. Autopsy revealed the tumor involving pons, a portion of medulla oblongata, and cerebellum. The tumor showed diffusely infiltrative pattern and extended along the periventricular area to the thalamus and corpus callosum. The cut surface was grayish white and solid. It also showed areas of myxoid degeneration and necrosis probably related to radiation therapy. Microscopically the tumor was a cellular and pleomorphic glioma that showed some astrocytic differentiation. It was diffuse without geographic necrosis.

BACKGROUND: Nitric Oxide (NO) has been discovered to be an important endothelium-derived relaxing factor. The exogenous inhaled NO may diffuse from the alveoli to pulmonary vascular smooth muscle and produce pulmonary vasodilation, but any NO that diffuses into blood will be inactivated before it can produce systemic effects. To examine the effects of NO on pulmonary and systemic hemodynamics, NO was inhaled by experimental dogs in an attempt to reduce the increase in pulmonary artery pressure (PAP) and pulmonary vascular resistance (PVR) induced by hypoxia in dogs. METHODS: Eight mongrel dogs were studied while inhaling 1)50% O2 (baseline), 2)12% O2 in N2 (hypoxia), 3)followed by the same hypoxic gas mixture of O2 and N2 containing 20, 40 and 80 ppm of NO, respectively. RESULTS: Breathing at FIO2 0.12 nearly doubled the pulmonary vascular resistance from 173 56dyn sec cm-5 to 407 139dyn sec cm-5 and significantly increased the mean pulmonary artery pressure from 16 3mmHg to 22 4mmHg. After adding 20~80 ppm NO to the inspired gas while maintaining the FIO2 at 0.12, the mean pulmonary artery pressure decreased (p<0.05) to the level when breathing oxygen at FIO2 0.5 while the PaO2 and PaCO2 were unchanged. The pulmonary vascular resistance decreased significantly and the right ventricular stroke work index returned to a level similar to breathing at FIO2 0.5 by addition of NO into the breathing circuit. Pulmonary hypertension resumed within 3~5 minutes of ceasing NO inhalation. In none of our studies did inhaling NO produce systemic hypotension and elevate methemoglobin levels. CONCLUSIONS: Inhalation of 20~80 ppm NO selectively induced pulmonary vasodilation and reversed hypoxic pulmonary vasoconstriction without causing systemic vasodilation and bronchodilation. Methemoglobin and NO2 were within normal limit during the study.
Animals ; Anoxia ; Dogs ; Endothelium-Dependent Relaxing Factors ; Hemodynamics* ; Hypertension, Pulmonary ; Hypotension ; Inhalation* ; Methemoglobin ; Muscle, Smooth, Vascular ; Nitric Oxide* ; Oxygen ; Pulmonary Artery ; Respiration ; Stroke ; Vascular Resistance ; Vasoconstriction* ; Vasodilation

BACKGROUND: To reduce the risk of Mendelson's syndrome, it is customary to fast patients for 8 hours before anesthesia. However preoperative fast is unpleasant for patients, who complain frequently of thirst and dry mouth, and this conventional fast may be over-cautious. We have studied the effect of ingestion of barley tea, a Korean popular beverage, 3 hours before anesthesia on gastric contents (volume and pH), blood sugar level, thirst, and anxiety. METHODS: We studied prospectively 284 adult patients undergoing elective surgery. The patients in the control group (n=142) fasted for at least 8 hours, and those in the experimental group (n=142) received 250 ml of barley tea 3 hours before anesthesia. On arrival in the operating room, subjects were asked to assess thirst and anxiety. After induction of anesthesia, gastric contents were aspirated via 18 French Salem sump tube and gastric volume, pH and blood sugar level were measured. RESULTS: There were no statistically significant differences in gastric fluid volume and pH and blood sugar level between control and experimental groups. However, patients in experimental group complained of less thirst than those in control group. CONCLUSIONS: This study demonstrates that in adult patients undergoing elective surgery, allowing patients to drink 250 ml of barley tea until 3 hours before anesthesia may relieve patients from thirst without compromising safety.
Adult ; Anesthesia ; Anesthesia, General ; Anxiety ; Beverages ; Blood Glucose ; Eating ; Hordeum ; Humans ; Hydrogen-Ion Concentration* ; Mouth ; Operating Rooms ; Pneumonia, Aspiration ; Prospective Studies ; Tea ; Thirst

No abstract available.
Arthritis, Juvenile*