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

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

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

Localized pulmonary amyloidosis is a rare disease characterized by a deposition of amyloid limited to the lungs. We report a case of primary tracheobronchial amyloidosis which resulted in collapse of left lung and was confirmed by the Congo-red staining.
Amyloid ; Amyloidosis* ; Lung ; Rare Diseases

Localized pulmonary amyloidosis is a rare disease characterized by a deposition of amyloid limited to the lungs. We report a case of primary tracheobronchial amyloidosis which resulted in collapse of left lung and was confirmed by the Congo-red staining.
Amyloid ; Amyloidosis* ; Lung ; Rare Diseases

BACKGROUND: This study aimed at identifying the effects of improved methods of endotracheal suction and hand washing on incidence of nosocomial pneumonia (NP) in the neurosurgical ICU. METHOD: Repeated training of nurses about hand washing and adherence of the single use of suction catheter and sterile normal saline of endotracheal suction was provided. Then hand washing compliance of nurses before and after training was investigated. and the incidence of NP in all patients hospitalized for more than 72 hours in the neurosurgical ICU was investigated from Sep 1, 2000 to Jan 31, 2001 (2nd surveillance). The NP rate of that period was compared with the incidence of the 1st surveillance period, from Sep 1, 1999 to Jan 31, 2000. The data were analyzed with chi-square-test. Fisher's exact test and logistic regression analysis by SAS 8.0. RESULT: The proportion of hand washing performance increased from 15.6% to 46.8%. The rates of NP per patient during 1st surveillance and 2nd surveillance were 10.3%, 3.9%(p=0.01) patient-days rates of NP were 10.0 cases/1,000 patient days, 4.1 cases/1,000 patient days(p=0.04), and ventilator-days rates of NP were 67.6 cases/1.000 ventilator days, 16.2 cases/1,000 ventilator days(p=0.00) respectively. Out of 29 isolates, 18 were methicillin-resistant Staphylococcus aureus, which was the most frequently isolated microorganism. The risk factors associated with incidence of NP were age, length of stay, Glasgow coma scale, diabetes mellitus, duration of intubation, insertion of endotracheal tube, duration of tracheostomy, presence of tracheostomy, duration of ventilator, use of ventilator, and insertion of nasogastric tube. CONCLUSION: These results showed that single use of suction catheters and sterile normal saline and increased compliance of hand washing were important factors to decrease the incidence of NP.
Catheters ; Compliance ; Diabetes Mellitus ; Glasgow Coma Scale ; Hand Disinfection* ; Hand* ; Humans ; Incidence* ; Intensive Care Units* ; Critical Care* ; Intubation ; Length of Stay ; Logistic Models ; Methicillin-Resistant Staphylococcus aureus ; Pneumonia* ; Risk Factors ; Suction* ; Tracheostomy ; Ventilators, Mechanical

No abstract available.
Glucose* ; Humans ; Infant, Newborn*