BACKGROUND: Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified into two major types, and tyrosinase-related OCA can be produced by mutations of the structural gene for tyrosinase enzyme (TYR gene). OBJECTIVE: The purpose of this study was to analyze the segregation of mutant alleles of the TYR gene in tyrosinase-negative and tyrosinase-positive Korean OCA patients and families. METHODS: We amplified exon I, II, and III of the TYR gene of Korean OCA patients and their families by polymerase chain reactions (PCR), and analyzed the mutations by restriction fragment length polymorphism (RFLP) analysis in exon I and single-strand conformation polymorphism (SSCP) analyses in exon II and exon III. RESULTS: Two tyrosinase-negative cases showed mutations in exon I. Four tyrosinase-nega-tive cases and one tyrosinase-positive case showed mutations in exon II, and one tyrosinase-neg- ative case showed mutations in exon III. In summary, we found three kinds of mutation in four tyrosinase-negative OCA patients and one tyrsinase-positive OCA patient. CONCLUSIONS: RFLP and SSCP analysis can provide a basis for a rapid and sensitive screening system to detect TYR gene mutations of Korean OCA patients and their families.
Albinism, Oculocutaneous* ; Alleles ; Exons ; Hair ; Humans ; Korea* ; Mass Screening ; Melanins ; Monophenol Monooxygenase ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single-Stranded Conformational ; Skin

We conducted this cohort analytic study to determine whether women with unexplained elevations of maternal serum hCG at 15-18 weeks' gestation are at increased risk for pregnancy complications and adverse perinatal outcomes. The inclusion criteria were a singleton gestation, a confirmed gestational age, and an hCG level greater than 2.0 multiples of the median (MoM). The exclusion criteria were fetal anomalies, an abnormal karyotype, molar pregnancy, and an MSAFP level greater than 2.5 multiples of the median (MoM). A group of randomly selected women with hCG levels under 2.0 MoM served as controls. Patients with elevated levels of hCG had a significantly higher risk for PIH (17.9% versus 4.5%; P <.05) and preterm delivery (17.9% versus 3.5%; P<, 05) than control. But no significant differences were observed in the incidence of intrauterine growth restriction and low birth weight and in the newborn weight. We suggested that pregnancies with unexplained elevated hCG levels should be regarded as high-risk pregnancies. And these patients require careful monitoring with adequate obstetric management.
Abnormal Karyotype ; Chorionic Gonadotropin* ; Cohort Studies ; Female ; Gestational Age ; Humans* ; Hydatidiform Mole ; Incidence ; Infant, Low Birth Weight ; Infant, Newborn ; Pregnancy ; Pregnancy Complications ; Pregnancy Outcome* ; Pregnancy* ; Pregnancy, High-Risk

Transsexuals are those who have appropriate chromosomal, hormonal and anatomical characteristics corresponding to their sexual phenotype but feel strongly with respect to their sexual identity, that they belong to the opposite sex. For this reason, they wish to be reassigned to their psychological sex by means of endocrinological and surgical treatment. Although its etiology is unknown, the majority of modern psychiatrists and behavioral scientists agree that the transsexualism is a disease entity belonging to gender identity disorder or gender dysphoria but not to be confused with the transversite, honosexualism or psychiatric problem. Three kinds of hermaphroditism have been defined according to the histology of the gonad : female pseudohermaphroditism, male pseudohermaphroditism and true hermaphroditism. It is very difficult, if not possible to assign sex especially in neonate and young children. Once sex assignment has been decided and accepted by the patient, surgical intervention should be undertaken as soon as possible. For adults there are many kinds of operative techniques. We have operated 28 cases of transexualism patients by using the penile and scrotal skin flap. This technique is superb for improving sexual appearance and function, and finally for a good opportunity for social activity. We report the results of surgery.
46, XX Disorders of Sex Development ; 46, XY Disorders of Sex Development ; Adult ; Child ; Disorders of Sex Development ; Female* ; Gender Identity ; Gonads ; Humans ; Infant, Newborn ; Male* ; Ovotesticular Disorders of Sex Development ; Phenotype ; Psychiatry ; Skin* ; Transsexualism*

In male reproducible health, fertility and IVF (in-vitro fertilization), semen analysis has been most important. Semen analysis can be divided into concentration, motional and morphological analysis of sperm. The existing method which was developed earlier to analyze semen concentrated on the sperm motility analysis. To provide more useful and precise solutions for clinical problems such as infertility, semen analysis must include sperm morphological analysis. But the traditional tools for semen analysis are subjective, imprecise, inaccurate, difficult to standardize, and difficult to reproduce. Therefore, with the help of development of microcomputers and image processing techniques, we developed a new sperm morphology analyzer to overcome these problems. In this study the agreement on percent normal morphology was studied between different observers and a computerized sperm morphology analyzer on a slide-by-slide basis using strict criteria. Slides from 30 different patients from the SNUH andrology laboratory were selected randomly. Microscopic fields and sperm cells were chosen randomly and percent normal morphology was recorded. The ability of sperm morphology analyzer to repeat the same reading for normal and abnormal cells was studied. The results showed that there was no significant bias between two experienced observers. The limits of agreement were 4.1%~-3.8%. The Pearson correlation coefficient between readers was 0.79. Between the manual and sperm morphology analyzer, the same findings were reported. In this experiments the slides were stained by two different methods, PAP and Diff-Quik staining methods. The limits of agreement were 7.2%~-5.7% and 6.0%~-6.3%, respectively. The Pearson correlation coefficients ware 0.76 and 0.91, respectively. The limits of agreement was tighter below 20% normal forms. In the experiments of repeatability, 52 cells stained by PAP and Diff-Quik staining methods were analyzed three times in succession. Estimating pairwise agreement, the kappa statistic for the pairs were 0.76, 0.81, 0.86, and 0.75, 0.88, 0.88 respectively. In this study it was shown that there was good agreement between manual and computerized assessment of normal and abnormal cells. The repeatability and agreement per slide of computerized sperm morphology analyzer was excellent. The computer's ability to classify normal morphology per slide is promising. Based on results obtained, this system can be of clinical value both in andrology laboratories and IVF units.
Andrology ; Bias (Epidemiology) ; Fertility ; Humans ; Infertility ; Male ; Microcomputers ; Semen ; Semen Analysis ; Sperm Motility ; Spermatozoa*

In unanesthetized rabbits, alcohol, glyserin, or heavy water was injected intravenously and nystagmic reaction elicited by passive alteration of body position was recorded by means of nystagmography, and the specific direction of the nystagmus was also observed. The following results were obtained 1. After Injection of alcohol (2.5~3.5ml/kg), right sloe down or lelf side down position elicited nystagmus in both eyes (FAN I) Right sloe down position elicited supero-dorsal nystagmus in the ipsilateral eye anti Infero-central nystagmus In the contralateral eye Left side down position produced nystagmus towards reversed directions 2. Returning to neutral position from one sloe down also elicited nystagmus towards the same direction. 3 From 5~6 hours after Injection of alcohol, the direction of the positional nystagmus was reversed, manifesting phase II of the PAN (PANII) 4. Injection of glycerin (2.0~3.0ml/kg) or heavy water (2.0~25ml/kg) also elicited positional nystagmus. The direction of the nystagmus was the same as and opposite to that Induced by alcohol Injection
Deuterium Oxide* ; Glycerol* ; Nystagmus, Physiologic* ; Rabbits

No abstract available.
Nipples*

PURPOSE: The purpose of this study was to describe the anglographic finding and clinical result of transarterial embolotherapy(TAE) in patients with injuries of renal artery branches by blunt trauma. MATERIALS AND METHODS: The study was based on retrospective analysis of seven cases, in which TAE was attempted for the control of traumatic renal arterial bleeding. All procedures were performed via the transfemoral approach. TAE was performed with stainless steel coil in two cases, Gelfoam in one case, and Gelfoam and stainless steel coil in four cases. RESULTS: Angiographic findings of vascular injuries were pseudoaneurysm in four cases, extravasation in two cases and arteriocalyceal fistula in one case. All procedures were performed successfully without complication. CONCLUSION: Pseudoaneurysm is a common anglographic finding in patients with injury of renal artery branches and TAE is considered a safe and effective method for treating such cases.
Aneurysm, False ; Embolization, Therapeutic* ; Fistula ; Gelatin Sponge, Absorbable ; Hemorrhage ; Humans ; Renal Artery* ; Retrospective Studies ; Stainless Steel ; Vascular System Injuries

BACKGROUND: Endoprosthetic reconstruction is widely applied for pathological fractures of the proximal humerus; however, functional impairment is usually unsatisfactory. The aims of the current study are to evaluate the reliability of interlocking intramedullary (IM) nailing with cement augmentation as a fixation method in proximal humeral lesions and to assess functional outcomes. METHODS: We reviewed 32 patients with pathological fractures of the proximal humerus who underwent interlocking IM nailing and cement augmentation. Functional scores and pain relief were assessed as outcomes. RESULTS: The mean follow-up period was 14.2 months. The mean Musculoskeletal Tumor Society functional score and Karnofsky performance status scale score were 27.7 and 75.6, respectively. Improvement of pain assessed using the visual analogue scale was 6.2 on average. Thirty-one patients (97%) experienced no pain after surgery. The mean ranges of forward flexion and abduction were 115° and 112.6°, respectively. All patients achieved stability and had no local recurrence without failure of fixation until the last follow-up. CONCLUSIONS: Proximal interlocking IM nailing with cement augmentation appears to be a reliable treatment option for pathological or impending fractures of the proximal humerus in selected patients with metastatic tumors, even with extensive bone destruction.
Follow-Up Studies ; Fracture Fixation, Intramedullary* ; Fractures, Spontaneous* ; Humans ; Humerus* ; Karnofsky Performance Status ; Methods ; Neoplasm Metastasis ; Recurrence

The use of interlocking intramedullary nail is accepted one of treatment choices in the comminuted fractures of humeral shaft. The insertion of distal interlocking screws remains technically problematic. The use of intrageon's hands during the procedure. In order to reduce technical difficulty and radiation exposure, it is necessary to compare the rigidity of intramedullary nail according to the number of distal interlocking screws. The purpose of study is to compare the stability of interlocking intramedullary nail according to the number of distal screws by means of torsional compliance measurements in the simulated humeral shaft fractures. Simulated fractures were made in 20 humora from 10 cadavera at the mid-junction of humeral shaft. All humora were fixated with titaium humeral nail system. Interlocking screws were placed at proximal and distal screw holes by standard procedure. Group I consisted of 10 humora fixated with one distal interlocking screw and group II consisted of 10 humora fixated with two distal intterlocking screws. Torsional compliance was measured with single-end of 10 humora fixated with two distal interlocking screws. Torsional compliance was measured with single-end double arm torquing machine. The torsional compliance analog was 0.0294+/-0.0033 mm/N mm for one screw and 0.0241+/-0.0045 mm/N mm for two distal screws. The torsional compliance analog between two groups was found to be statistically insignificant(p=0.23). In conclusion, One distal interlocking screw was not inferior to two interlocking screws in terms of biomechanical characteristics, especially torsional compliance analog.
Arm ; Compliance ; Fracture Fixation, Intramedullary* ; Fractures, Comminuted ; Hand

PURPOSE: To investigate the relationship between plasma TDRD7 mRNA and lens transparency, and to evaluate plasma TDRD7 mRNA as a potential marker for cataracts and its sub-type by quantitatively analyzing human peripheral blood. METHODS: Plasma RNA was extracted from 40 patients with cataracts, and 30 normal controls of matched age and gender. Blood cholesterol and fasting glucose were measured, and the RNA extracted from the sample was synthesized into cDNA. After polymerase chain reaction, the results were compared after quantifying the TDRD7 mRNA using ABL1 mRNA for normalization. We analyzed the relative gene expression data via the DeltaDeltaCt method. RESULTS: The normalized 2(-DeltaDeltaCt) of plasma TDRD7 mRNA based on ABL1 mRNA was 1.52 ± 0.63 in the case of the control group and 1.05 ± 0.34 in the case of the cataract patients, and the TDRD7 expression level of the cataract patients was lower than that of the control group (p = 0.048). The comparison of the genetic values of different types of cataracts demonstrated that the TDRD7 expression level of the cortical type and mixed type were lower than those of the nuclear type and posterior subcapsular opacity type (p = 0.017). CONCLUSIONS: Human cataracts and the TDRD7 gene loss-of-function mutations are strongly causally related, as the expression level of plasma TDRD7 mRNA in patients with cataracts was statistically significantly lower than in the normal control group.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cataract/*blood ; Child ; Female ; Gene Expression Regulation/*physiology ; Humans ; Male ; Middle Aged ; Proto-Oncogene Proteins c-abl/genetics ; RNA, Messenger/*blood ; Real-Time Polymerase Chain Reaction ; Ribonucleoproteins/*genetics