Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease. The level of protoporphyin is raised in erythkocytes and it may also be increased in the feces. We report herein a case of EPP present in a family which was diagnosed by a high free erythrocyte protoporphyrin (FEP) count.
Erythrocytes ; Feces ; Ferrochelatase ; Humans ; Liver Diseases ; Protoporphyria, Erythropoietic*

Erythropoietic protoporphyria (EPP) is an autosomal dominant condition due to decreased activity of ferrochelatase. The disease is characterized by a wide range of photocutaneous changes and occasionally by liver disease. The level of protoporphyin is raised in erythkocytes and it may also be increased in the feces. We report herein a case of EPP present in a family which was diagnosed by a high free erythrocyte protoporphyrin (FEP) count.
Erythrocytes ; Feces ; Ferrochelatase ; Humans ; Liver Diseases ; Protoporphyria, Erythropoietic*

Five medical students in the fourth-year took anatomy as their elective courses for 1 month. They dissected one cadaver, and investigated Digital Report, under the course subjects as follows; (1) the shape of thyroid gland and the location of its isthmus, (2) the branches of left and right coronary arteries, (3) the number of blood vessels and bronchi on the hilum of lung, (4) topographical relationship of the renal vessels and ureter, and the shape of the renal pelvis, (5) the location and attachment of the appendix, (6) the penetration of median nerve through the pronator teres, (7) the sensory nerves and the extensor tendons on the dorsum of hand, (8) the branches of deep femoral artery. The pancreatic and live samples were processed and stained with H&E, for LM observation, since the individual had suffered from pancreatic cancer and got a Pylorus preserving pancreatico-duodenectomy (PPPD). At the last step of the elective course, students wrote small articles following the conventional method for writing manuscript. From the viewpoint of professor, the anatomy course for the fourth-year students were definitely different from that for first-year students, and had many positive effects in terms of anatomy education.
Appendix ; Blood Vessels ; Bronchi ; Cadaver ; Coronary Vessels ; Education ; Femoral Artery ; Hand ; Humans ; Kidney Pelvis ; Lung ; Median Nerve ; Pancreatic Neoplasms ; Pylorus ; Students, Medical* ; Tendons ; Thyroid Gland ; Ureter ; Writing

STUDY DESIGN: Retrospective study. PURPOSE: To evaluate the radiological and clinical results of three different methods in the deformity correction of a degenerative flat back. OVERVIEW OF LITERATURE: There are no comparative studies about different procedures in the treatment of degenerative flat back. METHODS: Sixty-four patients who consecutively underwent corrective surgery for degenerative flat back were reviewed. The operations were performed by three different methods: posterior-only (group P, n=20), one-stage anterior-posterior (group AP, n=12), and two-stage anterior-posterior with iliac screw fixation (group AP-I, n=32). Medical and surgical complications were examined and radiological and clinical results were compared. RESULTS: The majority of medical and surgical complications were found in group AP (5/12) and group P (7/20). The sagittal vertical axes were within normal range immediately postoperatively in all groups, but only group AP-I showed normal sagittal alignment at the final follow-up. Postoperative lumbar lordosis was also significantly higher in group AP-I than in group P or group AP and the finding did not change through the last follow-up. The Oswestry disability index was significantly lower in groups AP and AP-I than in group P at the final follow-up. Meanwhile, the operating time was the longest in group AP-I, and total amount of blood loss was larger in group AP-I and group AP than in group P. CONCLUSIONS: Anterior-posterior correction showed better clinical results than posterior-only correction. Two-staged anterior-posterior correction with iliac screw fixation showed better radiological results than posterior-only or one-staged anterior-posterior correction. Two-staged anterior-posterior correction with iliac screw fixation also showed a lower complication rate than one-staged anterior-posterior correction.
Animals ; Congenital Abnormalities* ; Follow-Up Studies ; Humans ; Kyphosis ; Lordosis ; Lumbar Vertebrae ; Reference Values ; Retrospective Studies ; Treatment Outcome

PURPOSE: To present our operative experiences with carpometacarpal (CMC) injuries, excluding thumb. MATERIALS AND METHODS: Thirty four fracture and dislocations of CMC joint excluding thumb were reviewed retrospectively. Emphases were placed on injury mechanisms, anatomical location, times between diagnosis and surgery, treatment and complications. RESULTS: The average age of patients was 31.5 years. 19 cases of axial loading by blow as an injury mechanism. The 5th CMC joint was found to be the most frequently involved single joint (18 cases of 34 cases). Dorsal dislocation of CMC joints was present in 12 cases. Comminution of the carpal or metacarpal bone was present in 18 cases. The average time to surgery was 6 days. Twenty-seven cases were operated upon by closed reduction and percutaneous pinning. Seven cases were treated by open reduction and internal fixation. In the last follow up period, a clinically full hand function was restored in 31 cases. Intermittent pain was present in 6 cases in which there was grip weakness in 4 cases and limitation of motion in 3 cases. However, all cases were able to activities of daily living. CONCLUSION: We obtained good outcomes in CMC joint injuries through the accurate diagnosis and proper operative treatment.
Activities of Daily Living ; Carpometacarpal Joints* ; Diagnosis ; Dislocations ; Follow-Up Studies ; Hand ; Hand Strength ; Humans ; Joints ; Retrospective Studies ; Thumb

PURPOSE: To analyze the results between PFN (Proximal Femoral Nail) and DHS (Dynamic Hip Screw) on the operative treatment of unstable intertrochanteric fractures retrospectively. MATERIALS AND METHODS: 35 cases of unstable intertrochanteric fractures (grouped 24 patients with DHS and 11 patients with PFN) who were taken the operations from Jan. 2001 to Mar. 2002 were analysed regarding to union state, union time, operation time, sliding length of lag screws, blood loss, postoperative complications and functional recovery scores by Sk?vron with ANOVA and multivariate linear regression. RESULTS: The means of union time were 17.9 weeks (DHS) and 17.0 weeks (PFN), sliding length of lag screws were 3.9 mm (DHS) and 2.1 mm (PFN), perioperative blood losses were 743 cc (DHS) and 736 cc (PFN), operation time were 93.4 minutes (DHS) and 102 minutes (PFN), and the functional recovery scores by Sk?vron were 71.8% (DHS) and 76.8% (PFN), respectively. The results of our study indicate that there were not statistically significant differences between PFN and DHS groups in treatment of unstable intertrochanteric fractures (p>0.05). But, there was less sliding of lag screws in PFN group in statistical significance (p<0.05). CONCLUSION: Authors think that PFN is one of the useful implants in treating unstable intertrochanteric fractures of the femur in regarding to sliding.
Femur* ; Hip Fractures ; Hip* ; Humans ; Linear Models ; Postoperative Hemorrhage ; Retrospective Studies

Hydatidiform moles are generally separated into two classifications. Complete hydatidiform moles are characterized by cystic swelling of all villi, often pronounced trophoblastic hyperplasia, lack of fetal parts, all 46 chromosomes of paternal origin, and a major risk for persistent trophoblastic tumor. Partial hydatidiform moles appear to be a milder version of complete moles with both normal and cystic villi, focal trophoblastic hyperplsia, a fetus or indication of previous fetal existence, 69 chromosomes with a maternal contribution, and a malignant potential less than described for complete moles. Hydatidiform mole with coexistent fetus is a very rare phenomenon, with an estimated incidence of 0.005 to 0.01 percent of all pregnancies. Due to advances in cytogenetics and ultrasonography, now permit the diagnosis of this pregnancy antenatally. However this unusual pregnancy has the risks of malignant change and severe medical complications, so it is a dilemma to decide continuation or termination of pregnancy. We experienced a case of partial hydatidiform mole with coexistent live fetus, which was diagnosed by ultrasonography at 12 gestational weeks, and confirmed normal karyotype (diploid) of the coexistent fetus. A brief reviews of related literature was done.
Classification ; Cytogenetics ; Diagnosis ; Diploidy ; Female ; Fetus* ; Hydatidiform Mole* ; Hyperplasia ; Incidence ; Karyotype ; Pregnancy ; Trophoblastic Neoplasms ; Trophoblasts ; Ultrasonography

We have experienced a case of hepatoblastoma in 22 months old male infant who presented with abdominal distention and hepatomegaly. Diagnosis was confirmed by X-ray of abdomen, liver scan and histological findings. A brief review of literature was also presented.
Abdomen ; Diagnosis ; Hepatoblastoma* ; Hepatomegaly ; Humans ; Infant ; Liver ; Male

STUDY DESIGN: Retrospective study. PURPOSE: To investigate influence of bone mineral density (BMD) on the surgical correction of lumbar degenerative kyphosis (LDK). OVERVIEW OF LITERATURE: No studies so far have reported the influence of BMD on the surgical correction of LDK. METHODS: Forty LDK patients with more than 2 years follow-up were studied. Pelvic incidence (PI), pelvic tilt, sacral slope, sagittal vertical axis (SVA), lumbar lordosis (LL), and thoracic kyphosis were measured preoperatively, immediate postoperatively and at final follow-up. Adverse outcomes: proximal adjacent fractures, sagittal decompensation, pseudoarthrosis, and cage subsidence were documented. RESULTS: There were 37 females and 3 males. Average age was 65.1+/-4.5 years and mean follow-up was 34.2+/-16.7 months. 42.5% were Takemitsu type 3 curves, 27.5% type 2, 20.0% type 4 and 10.0% type 1. 37.5% had osteopenia, 40.0% osteoporosis and 22.5% had severe osteoporosis. SVA improved from 237.0+/-96.7 mm preoperatively to 45.3+/-41.8 mm postoperatively (p=0.000). LL improved from 10.5degrees+/-14.7degrees to -40.6degrees+/-10.9degrees postoperatively (p=0.000). At final follow-up SVA deteriorated to 89.8+/-72.2 mm and LL to 34.7degrees+/-15.8degrees (p=0.000). The association between late sagittal decompensation, pseudoarthrosis, or proximal adjacent fractures and osteoporosis was insignificant. The difference between immediate postoperative LL and PI (PIDiff) had a significant association with sagittal decompensation and pseudoarthrosis. CONCLUSIONS: Osteoporosis did not influence the degree of correction, late sagittal decompensation, proximal adjacent fractures, and pseudoarthrosis in LDK. PIDiff had a significant association with sagittal decompensation and pseudoarthrosis.
Animals ; Axis, Cervical Vertebra ; Bone Density* ; Bone Diseases, Metabolic ; Female ; Follow-Up Studies* ; Humans ; Incidence ; Kyphosis* ; Lordosis ; Male ; Osteoporosis ; Pseudarthrosis ; Retrospective Studies

STUDY DESIGN: Genetic screening of the estrogen receptor 2 (ESR2) genes in patients with ossification of the posterior longitudinal ligament (OPLL). OBJECTIVE: We studied the relationships between ESR2 gene polymorphisms and OPLL to understand the pathophysiology of OPLL. SUMMARY OF LITERATURE REVIEW: The OPLL has a strong genetic component. Several familial surveys and human leukocyte antigen (HLA) haplotype studies reveal that genetic background is an important component in the occurrence of OPLL and a large number of gene analysis studies were utilized to clarify the susceptible gene for OPLL, including COL11A2, BMP-2, TNF-alpha, NPPS, leptin receptor, transforming growth factor (TGF)-beta, Retinoic X receptor, ER, IL-1, PTH, and VDR have been performed. MATERIALS AND METHOD: Genomic deoxyribonucleic acid (DNA) samples obtained from 164 patients (93 men and 71 women) with OPLL and 219 control subjects, without the disease (105 men and 114 women) were amplified by polymerase chain reaction, and polymorphism genotypes were determined by the restriction endonuclease digestion. The distribution of genotypes was compared between the patients with the disease and the control subjects. RESULTS: The polymorphism of ESR2 [rs1256049, exon6, Val328Val, p=0.018, odd ratio (OR)=2.41, 95 confidence interval (CI)=1.15-5.02 in the recessive model] only showed statistically significant association between the control and the OPLL groups. The rest SNPs of ESR2 did not show any significant differences between the control and the OPLL groups. CONCLUSIONS: Estrogen receptor 2 (ESR2) gene polymorphisms (rs 1256049) was associated with OPLL. In future studies, we will perform target SNP chip between OPLL and candidate gene.
Digestion ; DNA ; DNA Restriction Enzymes ; Estrogen Receptor beta ; Estrogens ; Genetic Testing ; Genotype ; Haplotypes ; Humans ; Interleukin-1 ; Leukocytes ; Longitudinal Ligaments ; Male ; Ossification of Posterior Longitudinal Ligament ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Receptors, Leptin ; Spine ; Succinimides ; Transforming Growth Factors ; Tumor Necrosis Factor-alpha