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

No abstract available.
Follow-Up Studies* ; Humans ; Inpatients* ; Interviews as Topic* ; Telephone*

For the study on the effect of retinoic acid on the formation of palatal rugae and the cleft palate, retinoic acid was administered orally 150mg/kg of body weight by gastric tube at GD 10.5 to Sprague-Dawley rats. The pregnant rats were sacrificed on GD 17.5 under ether anesthesia, and laparatomized. After removal of uterus, the number of pregnant sacs and fetuses were counted. The fetuses weighed, the MEE (medial edge epithelium) thickness measured and the mitotic figures counted after routine processing and H·E stain. All the palates were photographed, and the number of rugae & the rugal pattern analysed. TEM photographs of MEE cells were observed after routine processing. The results were as follows ; 1. Rat fetus body weight after retinoic acid treatment increased significantly compared with the control group. 2. Mitotic figures in the retinoic acid treated group increased significantly compared with control group. 3. In the retinoic acid treated group, 79.3% of fetuses had cleft palates. Among fetuses with cleft palates, complete cleft palates were 10.6%, incomplete cleft palate 89.4%. Incomplete clefts were of two types ; median type (cleft palate at the intermolar region) and soft palate type (cleft posterior to the 8th rugae). Median type was 64.6% and the soft palate type 35.4%. 4. 2.3% of the fetuses had the numerical anomaly of the palatal rugae in the control group, but that of retinoic acid treated group 87.7%. 5. 17.4% of palatal rugae of the control group was disrupted, but 100% of the retinoic acid treated group disrupted. 6. Rugal papillae were observed in the 15.1% of fetuses of the control group and 63.1% of fetuses of the retinoic acid treated group. 7. Longitudinal rugae were observed in 19% of fetuses of the retinoic acid treated group, but not in the control group. 8. In TEM photographs, cytoplasmic processes, intercellular space, and desmosomes decreased. Swelling of mitochondria & ER were also found in the retinoic acid treated groups. According to the above results, it appears that there is close relationship between palatal rugae and cleft palates, and that excess retinoic acid induces disruption of pattern and numerical variations of rat fetus palate rugae. Also retinoic acid has an inhibitory effect on the proliferation of medial edge epithelial cells of palatal shelves. The cleft palates may be induced by the above mentioned retinoic acid effects. But, the exact mechanisms of retinoic acid on cleft palate formation is not thoroughly known and should be further studied.
Anesthesia ; Animals ; Body Weight ; Cleft Palate* ; Cytoplasm ; Desmosomes ; Epithelial Cells ; Ether ; Extracellular Space ; Fetus ; Mitochondria ; Palate ; Palate, Soft ; Rats ; Rats, Sprague-Dawley ; Tretinoin* ; Uterus

No abstract available.
Frontal Sinus* ; Osteoma*

Congenital dyserythropoietic anemia Type II (herditary erythroblatic multinuclearity with positive acidified serum test; HEMPAS) is characterized by binuclearity, multinuclearity, pluripolar mitoses, karyorrhexis of normoblasts, and the presence of abnormal antigens on the red cells. We experienced a case of HEMPAS in a 2 month old girl patient who had an intermittent fever, abdominal distention with palpable liver & spleen, and generalized jaundice. The blood analysis revealed anemia, and thrombocytopenia. Peripheral blood smear showed an averge of 6 mature normoblast per 100 leukocyte count. The red cells showed moderate anisocytosis, poikilocytosis, irregularly crenated, contracted cells and occasional spherocytes. The leukocytes showed relative lymphocytosis, and there were occasional villous lymphocytes. The marrow smear showed abnormality in erythroid series. About ten percent of the erythroblasts showed 2~7 nuclei or lobulated nuclei. The mitotic forms of the erythroid precursors were also increased in frequency. The M:E ratio was 1:3.2. Blood culture on this patient showed a pure growth of Coxiella burnetti. Medical treatment with Doxycycline and Rifampin was performed. After treatment, she became afebrile showing improved general condition with decreased size of liver & spleen. In spite of clinical improvement, she died suddenly 3 weeks after initial treatment.
Anemia ; Anemia, Dyserythropoietic, Congenital* ; Bone Marrow ; Coxiella ; Doxycycline ; Erythroblasts ; Female ; Fever ; Hempa ; Humans ; Infant ; Jaundice ; Leukocyte Count ; Leukocytes ; Liver ; Lymphocytes ; Lymphocytosis ; Mitosis ; Rifampin ; Spherocytes ; Spleen ; Thrombocytopenia

Thanatophoric dysplasia (TD) is a sporadic lethal type of skeletal dysplasia featuring micromelia, decreased thoracic dimension and macrocephaly. To date, several kinds of mutation in fibroblast growth factor receptor 3 (FGFR3) has been identified in TD. We experienced a case of TD type I and underwent sequencing of the exon 7, 10 and the stop codon of FGFR3 to identify the type of mutation. TDI was diagnosed by the prenatal ultrasound at 25 weeks of gestation. The pregnancy was terminated and the diagnosis was confirmed by radiological and histologic examinations. The genomic DNA was extracted and the sequences of the exon 7, 10 and the stop codon of FGFR3 were amplified by PCR. The sequencing was performed for the each PCR products by dideoxyterminator method. The nucleotide transition from G to T was found in the nucleotide 1108, which is a part of the transmembrane domain, exon 10. To date, only one type of mutation (nucleotide 742) in the FGFR3 was identified in TD1 among Asian. This case firstly reveals the mutation of FGFR3 other than mutation at nucleotide 742 in TD1.
Asian Continental Ancestry Group ; Codon, Terminator ; Diagnosis ; DNA ; Exons* ; Fibroblast Growth Factors* ; Fibroblasts* ; Humans ; Macrocephaly ; Polymerase Chain Reaction ; Pregnancy ; Receptor, Fibroblast Growth Factor, Type 3* ; Receptors, Fibroblast Growth Factor* ; Thanatophoric Dysplasia* ; Ultrasonography

On the basis of the study intended to research by crosssectional study keeps pace with semilongitudinal study the growthaccelerating phenomena that Maximum Growth age in teenager's body-height. By the random sampling method, the subject of study are 12659 persons(male;6355, female;6304) that they are from 7 ages to 17 ages in the whole country including the rural community. The measurement period passed three month days, the statistical data became electronic data processing system with computer.The other side, body-height and MGA of Koreans who had been for during the period from 1925 to 1966 proved transition of the growth-accelerating phenomena by research data reported between 1913 and 1983. The results are as follows; 1. The Growth and Development-Value of Body-height. An age bracket the growth and development-value of body-height were, respectively, male is 123.88+/-5.05cm and female is 123.29+/-5.54cm for 7 ages group. these indices increased with age. The top-value reach, respectively. 169.08+/-5.62cm and 157.57+/-6.13cm. The intersecting ages of male and female were the age 8.5~12.5, during these periods, female excelled male but after these periods, male excelled female again. In case of body-height, MGA's are 7.0cm for male between 12 and 13 age, and 7.01cm for female between 8 and 9 ages. As a rule, body-height of male excelled female but intersection phenomena of male and female appeared between 8.5 and 12.5 ages. By reginal groups, it is most prevailing is Seoul, and medium size cities and rural community come in order. By regional groups, intersection phenomena of male and female are. a region of Seoul; 8.5~11.5 ages, a region of Daejeon; 7.5~9.5 ages, rural community; 11.5~14.5 ages the whole country's average; 8.5~12.5 ages By regional groups, the rate of maximum increase in a year are a regional of Seoul; male is 7.23cm as 13 ages, female is 7.65cm as 9 ages. a region of Daejeon; male is 7.85cm as 11 ages, female is 8.39cm as 9 ages. rural community; male is 7.65cm as 14 ages, female is 6.25 as 12 ages. the whole country's average; male is 7.0cm as 13 ages, female is 7.01 as 9 ages. 2. Maximum Growth Age (M.G.A.) By reginal groups, maximum Growth Age's are as below in a region of Seoul, MGA's are 12.63 for male and 9.01 for female, which shows that MGA for female appears about 3.5 years earlier than that for male. In a retion of Daejeon, MGA's are 9.20 for male and 8.93 for female, which show that they are all much the same in M.G.A. In rural community, MGA's are 14.00 for male and 11.89 for female, which shows that MGA for female appears about 2 years earlier than that for male. In the whole average, MGA's are 13.01 for male and 8.97 for female, which shows that for female appears about 4 years earlier than that for male. For boy, M.G.A. shows fastest-growing in Daegjeon, and Seoul and rural community come in order. For girl, It shows equal growth in Seoul and Daejeon, rural community comes later. 3. The M.G.A's in body height of male are respectively the age 15.02 in 1913, 14.23 in 1956, 13.86 in 1967, 13.62 in 1975, and 12.82 in 1981, while those of female are the age 12.0 in 1940, 11.52 in 1965, 9.53 in 1975, ad 11.16 in 1980; these data show that the MGA of the Koreans has been getting younger. 4. The equation of linear regression of all the MGA's in body height are as follow; Male: Y(M.G.A) = -0.020 x (the year) + 15.19 : female: Y(MGA) = -0.028 x (the year) + 13.2549. 5. The corelation of all the MGA's in body height are as below; male;r=-0.329, female;r=-0.252. 6. From the transition of the growth-accelating phenomena in 1980 we can capture the fact that the MGA's has been getting younger by 0.2 year per 10 years. 7. The MGA's in bodyheight are shown in table 4. 8. The future growth-accelating phenomena in body height are expected to show the similar tondency like that of the past, in 1910's but it should by more precisely reviewed after investigating the phenomena of the years directly ahead.
Acceleration* ; Automatic Data Processing ; Body Height* ; Female ; Humans ; Linear Models ; Male ; Rural Population ; Seoul

In order to assess the physical growth pattern of Korean Youth, the authors measured the body height, chestgirth and sitting height of 40967 persons (24832 males and 16135 females) from primary schools, middle and high schools and colleges of metropolitan (urban) and rural areas, and calculated the mene, standard deviation, standard error and coefficient variance of the body weight chestgirth, sitting height and various pertinent index by body height to demonstrate the standard physical growth and development by body height of sex and age. The following conclusions were obtained. 1. Physical growth and development: Rapid growth of physical growth in terms of body height has been observed among males in the age 7-15 and among female 7-13. Growth in terms of body height turned out to be slower among students of higher age by both sexes. The age of cross over between to sexes is between 10 to 13 years where upon girls out grows boys. Maximum annual growth were upon girls out grows boys. Maximum annual growth were both of 6.16cm from 8 to 9 years old and 12 to 13 years old for boys and 7.2cm from 8 to 9 and 6.1cm from 9 to 10 for girls. This indicates that girls enter a rapidly growing stage 2 years earlier than boys. Meanwhile, prominent improvement in body height of national students over period of ten year was noticed. 2. The distribution status of body height by age: The distribution status of body height by age were as follows; 7 year of age: boys-30cm range of body height from 104.0cm to 133.9cm, girls-27cm from 104.0 to 130.9cm, 8 year of age: boys-30cm from 116.0 to 145.9cm, girls-33cm from 113.0 to 145.9cm, 9 year of age: boys-30cm from 116.0 to 145.9cm, girls-33cm from 113.0 to 145.9cm, 10 year of age: boys-39cm from 116.0 to 154.9cm, girls-39cm from 119.0 to 157.9cm, 11 year of age: boys-45cm from 119.0 to 163.9cm, girls-39cm from 122.0 to 160.9cm, 12 year of age: boys-45cm from 125.0 to 169.9cm, girls-42cm from 125.0 to 166.9cm, 13 year of age: boys-45cm from 128.0 to 172.9cm, girls-42cm from 128.0 to 169.9cm, 14 year of age: boys-48cm from 131.0 to 178.9cm, girls-36cm from 134.0 to 169.9cm, 15 year of age: boys-42cm from 137.0 to 181.9cm, girls-33cm from 137.0 to 169.9cm, 16 year of age: boys-39cm from 146.0 to 184.9cm, girls-30cm from 143.0 to 172.9cm, 17 year of age: boys-39cm from 146.0 to 184.9cm, girls-27cm from 143.0 to 169.9cm, 18 year of age: boys-36cm from 152.0 to 187.9cm, girls-27cm from 146.0 to 172.9cm, 19 year of age: boys-30cm from 155.0 to 184.9cm girls-24cm from 146.0 to 169.9cm, 20 year of age: boys-24cm from 158.0 to 181.9cm girls-18cm from 149.0 to 166.9cm, 3. Standard values of body weight, chest-girth and sitting height by body height of age were found all age groups from 7 to 20 years old and listed in tables from 3-a to 16-a. 4. Standard values of relative body weight, relative chestgirth and relative sitting height by body height of age were found all age groups from 7 to 20 years old and listed in tables from 3-b to 16-b. 5. Standard values of physical and nutritional indices (Rohrer index, Kaup index, Vervaeck index and Pelidisi index) by body height of age were found all age groups from 7 to 20 years old and listed in tables from 3-c to 16-c.
Adolescent* ; Body Height* ; Body Weight ; Child ; Female ; Growth and Development* ; Humans ; Male ; Nutrition Assessment ; Young Adult

No abstract available.
Air Pollution, Indoor*

No abstract available.
Angiofibroma* ; Carbon Dioxide* ; Carbon* ; Lasers, Gas* ; Sirolimus* ; Tuberous Sclerosis*