The purpose of this study was to evaluate the bone age and hand anomaly in Down syndrome patients. We reviewed radiographs in 52 children and youths with Down syndrome, aged from 2 to 23 years. The characteristic findings of hand anomaly were observed in the middle phalanx of the fifth finger, with the following incidence; brachymesophalangia (44%), clinodactyly (48%), and dysmesophalangia (15%). Pseudoepiphysis (21%) was found typically at the distal end of the first metacarpal bone and proximal end of the second metacarpal bone. Up to 8.5 years of age, bone maturation was retarded and thereafter bone age accelarated in advance of chronologic age. These findings may provide valuable information relative to the diagnosis and treatment of hand anomaly in Down syndrome.
Adolescent ; Child ; Diagnosis ; Down Syndrome* ; Fingers ; Hand* ; Humans ; Incidence

OBJECTIVEs: Cytogenetic investigations were carried out on 770 women with primary (n=560) and secondary amenorrhea (n=210) to determine the frequency of chromosomal or genetic causes of amenorrhea. MATERIALS AND METHODS: In 770 women with primary amenorrhea (n=560) and secondary amenorrhea (n=210), chromosomal analysis were performed. RESULTS: 1) The most prevalent age group is 16-20 years of age group with primary amenorrhea and 26-30 years of age group with secondary amenorrhea. 2) Out of 560 cases of primary amenorrhea, 343 cases (61.3%) had the normal chromosome constitution and 217 cases (38.7%) had the abnormal chromosome constitution including 46,XY. 3) In 217 cases of abnormal chromosome of primary amenorrhea, 57 cases (26.3%) had 45,X and 34 cases (15.8%) had the 46,XY, 24 cases (11.0%) had 45,X/46,X,i (Xq), 23 cases (10.6%) had 45,X/46,X,+mar and 14 cases (6.6%) had 45,X/46,XY. 4) Out of 210 cases of secondary amenorrhea, 181 cases (86.2%) had the normal chromosome constitution and 29 cases (13.8%) had 45,X/46,XX. CONCLUSION: High percentage of chromosomal abnormalities was diagnosed in primary amenorrhea and most of them were sex chromosome anomalies. In secondary amenorrhea, the prevalence was lower than primary amenorrhea, so a preselection of patients with secondary amenorrhea for cytogenetic investigations seems to be necessary.
Amenorrhea* ; Chromosome Aberrations ; Constitution and Bylaws ; Cytogenetics* ; Female ; Humans ; Prevalence ; Sex Chromosomes

We have experienced a case of infantile nephritic syndrome confirmed by renal biopsy in a 13-month-old female patient who showed and develop mental retardation and persistent proteinuria. She revealed mild eyelid edema, joint laxity, delayed speech development and adrenal cortical calcification on the radiologic study. Renal biopsy showed microcystic tubular change, micro-glomeruli and marked mesangial proliferation.
Biopsy ; Edema ; Eyelids ; Female ; Humans ; Infant ; Intellectual Disability ; Joint Instability ; Nephrotic Syndrome* ; Proteinuria

The use of the interlocking intramedullary nails expand the possibilities for treatment of femoral shaft fractures, as illustrated by consistent and satisfactory clinical results. However, the technique is relatively complex compared to conventional nails and frequently poses technical problems. A retrospective review was undertaken of twenty-eight patients with femoral shaft fractures which had technical problems after undergoing the closed reduction and internal fixation with interlocking intramedullary nail procedure. We studied the types of the problems. Their causes, the frequency of problems with various kinds of nails, and discussed solutions of the problems. There were 21 additional comminutions and intraop erative splinterings, 8 angular deformities, 3 malpositioned nails, 3 loosened distal locked screws, 2 brocken drill bits, and 1 femoral neck fracture. Bone-union was attained in all cases (28 patients), but the period of treatment to attain bone-union was protracted to an average of 6.8 (5-12) months. In 3 cases, the knee joint range of motion was of limited flexion, 70 to 90 degrees, but in all other cases full range of motion was realized. 7 cases required 2 or more operations. The hospitalization period was for an average of 3.6 months. In conclusion, the importance of careful preoperative planning and experienced surgical technique cannot be overemphasized because we could see no significant difference in the occurence of technical problems in several kinds of the nail.
Congenital Abnormalities ; Femoral Neck Fractures ; Fracture Fixation, Intramedullary ; Hospitalization ; Humans ; Knee Joint ; Range of Motion, Articular ; Retrospective Studies

The authors present that was diagnosed late panophthalmitis histopathologically and that was a case of 17 scheie's filtering operated eyes during last 2 years. The patient was 63 year-old male who had chronic narrow angle glaucoma associated with moderate optic nerve cupping and atrophy in both eyes a year ago. Good filtering bleb showed and intraocular pressure controlled well normally after Scheie's operation in right eye. One year and five months later acute suppurative endophtbalmitis occured in operated eye during catarrhal conjunctivitis in both eyes. The authors concluded that the route of infection was filtering fleb. Culture of excreting pus through ruptured filtering fleb was negative.
Atrophy ; Blister ; Common Cold ; Conjunctivitis ; Glaucoma* ; Humans ; Intraocular Pressure ; Male ; Middle Aged ; Optic Nerve ; Panophthalmitis ; Suppuration

OBJECTIVE: The purpose of this investigation is to determine the frequency of chromosomal or genetic causes of recurrent spontaneous abortion. METHODS : A cytogenetic study was made in of 921 couples for 13 years from January 1984 to December 1997 in which the woman was ascertained to have had two or more spontaneous abortions at our Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University. RESULTS : The overall incidence of chromosome anomaly was 80 out of 921 (8.7%). There were 34 cases (3.69%) of reciprocal balanced translocation and 13 cases (1.41%) of Robertsonian translocation. Also 17 cases (1.85%) of inversion and 5 cases (0.54%) of X chromosome mosiacism was observed. In the case of reciprocal balanced translocation, chromosome 8,6,7,13 were preferentially involved over others. And in the case of Robertsonian translocation, chromosome 13 was preferentially involved. CONCLUSION: Our study demonstrates that cytogenetic analysis is indicated in couples with 2 or more spontaneous abortion and about half of these disorders are reciprocal balanced or Robertsonian translocations.
Abortion, Spontaneous* ; Chromosomes, Human, Pair 13 ; Cytogenetic Analysis ; Cytogenetics* ; Family Characteristics ; Female ; Humans ; Incidence ; Pregnancy ; Reproductive Medicine ; Seoul ; X Chromosome

In order to determine the enzyme activity, as expressed in Reitman-Frankel unit, of GOT isozyme present in whole homogenate, mitochondrial fraction and supernatant fraction were prepared from brain tissues of normal adult rabbit, by a differential centrifugal method. The effect of thiopental on the GOT isozyme activity in each fraction was determined and the following results were obtained. 1) The activity of GOT isozyme in whole homogenate of normal rabbit brain tissues was found to be 545+/-2.608 units/mg of wet weight whereas the corresponding figure for the supernatant GOT isozyme was 512+/-3.081 and the value for the mitochondrial GOT isozyme was found to be 34.9+/-1.224. 2) The supernatant GOT isozyme existing in a floating status within the cytoplasm accounted for 94 percent followed by 6.35 percent of mitochondrial GOT isozyme. 3) The activated-peak of mitochondrial GOT isozyme contained in the whole homogenate of adult rabbit brain tissues was found to be at #15 on the tube of elution in comparison to that of #73 for supernatant GOT isozyme, as analyzed by the DEAE-Cellulose column chromasography. 4) The supernant GOT isozyme from the thiopentaltreated brain was proportionaly distorted while mitochondrial GOT isozyme was not influenced. Fro example, treated with thiopental, the supernatant GOT isozyme was divided to be #63 & #73 on the tube in comparison to #15 for the mitochondrial GOT isozyme. 5) The activity of supernatant isozyme was proportionaly reduced as the concentration of thiopental. 6) Fifty percent inhibition dose(1se) of thiopental on the supernatant GOT isozyme was found to be 0.63mM. 7) The inhibitory effect of thiopental on the supernatant GOT isozyme was very high significantly by the statistics. 8) The mchanism by which thiopental inhibits the supernatant GOT isozyme in the adult rabbit brain was found to bh uncompetitive inhibition as its Michaelis-Menten constant Km=58.07mM demonstrated. In view of the above finding it is suggested that the thiopental inhibited selectively the activity of supernatant GOT isozyme of the adult rabbit brain tissues while it did not inhibitnificantly by the statistics. 8) The mechanism by which thiopental inhibits the supernatant GOT isozyme in the adult rabbit brain was found to bh uncompetitive inhibition as it Michaelis-Menten constant of Km=58.07 mM demonstrated. In view of the above findings it is suggested that the thiopental inhibited selectively the activity of supernatant GOT isozyme of the adult rabbit brain tissues while it did not inhibit that of mitochondrial GOT isozyme. The GOT isozyme of adult rabbit brain tissues was divided into thiopental-sensitive GOT isozyme(supernatant GOT isozyme) and thiopental insensitive GOT isozyme(mitochondrial GOT isozyme) Furthermore, it is suggested that the cellular function of the brain can be somewhat hindered, when thiopental is injected into the brain cell, while mitosis of the brain cell is not influenced.
Adult* ; Aspartate Aminotransferases* ; Brain* ; Cytoplasm ; DEAE-Cellulose ; Humans ; Mitosis ; Thiopental*

Balloon pulnounary valvuloplasty is an established method in the treatment of congenital valvular pulmonary stenosis. Balloon valvuloplasty was performed by using one or two balloons in a total of 19 mongrel dogs. Cross sectional area ratio ranging 145-406% was used to compare the relative sizes of the pulmonary annulus the balloon Hemodynamic changes and cardiac damages in single and double balloon groups were analyzed. Survival time of double balloon group was longer than that of single balloon group(P<0.05). Increment of the right ven?dular systolic pressure in single balloon group (mean 38 mmHg) was greater than that in double balloon group (mean 18 mmHg) (p<0.05). Decrement of the femoral arterial pressure in single balloon group (mean 87 mmHg) was greater than in double balloon group (mean 41 mmHg) (p<0.05). The locations of trauma were mainly the right ventricular free wall, the main pulmonary artery, the anterior leaflet of the pulmonary valve and in a less degree, anterior wall of the right atrium, the right ventricular outflow tract and the left pulmonary artery in the order of frequency. There were no significant differences in cardiac damages between single and double balloon groups (P>0.05). Major microscopic findings were sloughing of the endotheliu, fibrin deposition, hemorrhage, localized myocardial infarction and so on. In conclusion, double balloon pulmonary valvuloplasty is superior to single balloon technique in survival time and hemodynamics. Therefore, double, balloon technique is recommended for the pulmonary valvuloplasty.
Animals ; Arterial Pressure ; Balloon Valvuloplasty ; Blood Pressure ; Catheters* ; Dogs ; Fibrin ; Heart Atria ; Hemodynamics ; Hemorrhage ; Methods ; Myocardial Infarction ; Pulmonary Artery ; Pulmonary Valve ; Pulmonary Valve Stenosis

Balloon pulnounary valvuloplasty is an established method in the treatment of congenital valvular pulmonary stenosis. Balloon valvuloplasty was performed by using one or two balloons in a total of 19 mongrel dogs. Cross sectional area ratio ranging 145-406% was used to compare the relative sizes of the pulmonary annulus the balloon Hemodynamic changes and cardiac damages in single and double balloon groups were analyzed. Survival time of double balloon group was longer than that of single balloon group(P<0.05). Increment of the right ven?dular systolic pressure in single balloon group (mean 38 mmHg) was greater than that in double balloon group (mean 18 mmHg) (p<0.05). Decrement of the femoral arterial pressure in single balloon group (mean 87 mmHg) was greater than in double balloon group (mean 41 mmHg) (p<0.05). The locations of trauma were mainly the right ventricular free wall, the main pulmonary artery, the anterior leaflet of the pulmonary valve and in a less degree, anterior wall of the right atrium, the right ventricular outflow tract and the left pulmonary artery in the order of frequency. There were no significant differences in cardiac damages between single and double balloon groups (P>0.05). Major microscopic findings were sloughing of the endotheliu, fibrin deposition, hemorrhage, localized myocardial infarction and so on. In conclusion, double balloon pulmonary valvuloplasty is superior to single balloon technique in survival time and hemodynamics. Therefore, double, balloon technique is recommended for the pulmonary valvuloplasty.
Animals ; Arterial Pressure ; Balloon Valvuloplasty ; Blood Pressure ; Catheters* ; Dogs ; Fibrin ; Heart Atria ; Hemodynamics ; Hemorrhage ; Methods ; Myocardial Infarction ; Pulmonary Artery ; Pulmonary Valve ; Pulmonary Valve Stenosis

Erythromelalgia (EM) is an uncommon disorder characterized by redness, heat, and painful extremities with intense burning sensation. Attacks of EM may be worsened by limb warming, exercise, or dependency of the affected extremity. Although the coexistence of EM and Raynaud's phenomenon (RP) may appear to be opposites in symptomatology and clinical presentation, recent studies provide an explanation based on a dysfunction of the regulation of vasomotor tone. Here, we report a case of EM in a patient with RP.
Burns ; Erythromelalgia ; Extremities ; Hot Temperature ; Humans ; Lupus Erythematosus, Systemic ; Sensation