A case of thanatophoric dwarfism is presented. The previous gestation was polyhydramniotic and aborted spontaneously at 19th week. The aborted fetus showed marked micromelia. Present gestation was also polyhydramniotic and terminated by therapeutic abortion at 31th weeks due to skeletal deformity representing thanatophoric dwarfism. The fetus shows typical characteristics of thanatophoric dwarfism. Grossly the fetus shows marked micromelia, narrowed thorax with relatively normal length of trunk, and enlarged head. In the radiograph the femur shows characteristic ‘ telephone receiver’-like form. And the histological observations shows marked disturbances of the endochondral ossification.
Aborted Fetus ; Abortion, Therapeutic ; Congenital Abnormalities ; Female ; Femur ; Fetus ; Head ; Pregnancy ; Telephone ; Thanatophoric Dysplasia* ; Thorax

No abstract available.
Depression*

A synophthalmia, another form of cyclopia, in which the element of the two eyes are partially fused to form an apparently single eye in the middle of the forehead. The synophthalmia is a result of complex, neural plate misdevelopment syndrome involving the eye, brain, skull and face. It is well known that synophthalmia is due to heterogenous causes, most of which chromosomal imbalances. We experienced a case of synophthalmia associated with proboscis, alobar holoprosencephaly and chromosomal anomaly 46, XX, -15,t (15 q, 21 q). Diagnosis was confirmed by brain MRI and autopsy, The patient died about 20 hours of age and autopsy was done. A brief review of the literatures was also presented.
Autopsy ; Brain ; Diagnosis ; Forehead ; Holoprosencephaly ; Humans ; Magnetic Resonance Imaging ; Neural Plate ; Skull

The development of intestine can be characterized by the following two traits. First, at the beginning of its development, the intestine is temporarily herniated into the umbilical cord, then reduced into the abdominal cavity, and finally reaches its adult location, rotating along the way. Nevertheless, no time table is yet available as to show, in a precise manner, when the intestine is herniated, when it is reduced, or to what extent the rotation occurs. Secondly, it is known that in the course of intestinal development, the lumen is temporarily obstructed by epithelial proliferation and then undergoes the recanalization. However, it is not yet certain whether there is practically a complete luminal obstruction, even by supposing that there is a complete obstruction, no theory has yet been established to determine the time, location, or the extent of the obstruction, and the time of the recanalization. In this study, 2 ~12 week old human embryos and fetuses have been used which were microdissected under a surgical microscope and were subsequently observed in an ordinary tissue slide. We have obtained the following results. 1. The intestine was first formed at Carnegie stage 5. Together with the folds of the embryos, three parts of the primitive gut were observed for the first time at stage 10. At stage 12, the primitive gut was located on the midline. 2. At stage 15, the intestine rotated to 90 counterclockwise, and at the next stage, it started herniation. There was another 90 counterclockwise rotation at stage 20, and at the beginning of the 9th week, with the rapid reduction into the abdominal cavity, the cecum was located in the proper adult position, and the rotation completed. 3. Although epithelial proliferation was recognizable in the esophagus, duodenum and other parts of the intestine of the developing embryo, we could not find any cases in which the lumen was completely obstructed.
Abdominal Cavity ; Adult ; Cecum ; Duodenum ; Embryonic Structures* ; Esophagus ; Fetus* ; Gastrula ; Humans* ; Intestines ; Phenobarbital* ; Umbilical Cord

We present a rare case of abdominal compartment syndrome due to a bulimic attack in a 19-year-old female patient with bulimia nervosa. She was admitted to our emergency room with complaints of progressive abdominal pain following bulimia. Computed tomography showed dilated stomach with food and air pressed other visceral organs and major abdominal vessels. Decompression using nasogastric tube or gastric lavage tube failed. At laparotomy, we performed gastrotomy and decompression was performed. After decompression, she fell into hypovolemic shock due to bleeding in the intra-gastric and peritoneal cavity. Twelve hours after the operation, the patient died due to refractory hypovolemic shock from uncontrolled bleeding following decompression of abdominal compartment. It should keep in mind that binge-eating habits in patients with bulimic nervosa could cause abdominal compartment syndrome due to gastric distension and this may be a potentially fatal condition.
Abdominal Pain ; Bulimia ; Bulimia Nervosa ; Compartment Syndromes ; Decompression ; Emergencies ; Female ; Gastric Lavage ; Hemorrhage ; Humans ; Intra-Abdominal Hypertension ; Laparotomy ; Peritoneal Cavity ; Reperfusion Injury ; Shock ; Stomach ; Young Adult

Diabetic muscle infarction (DMI) is an unusual neuromuscular complication of diabetes mellitus. It tends to occur in young, poorly controlled, insulin dependent diabetic patient with end-organ complication. We report a 24-year-old woman with diabetic muscle infarction in both lower extremities. DMI began with an abrupt onset of pain, tenderness, swelling and formation of a firm mass. MRI revealed an increase in the signal intensity on T2 weighted image and SPECT showed an increased uptake of Tc-99m-pyrophosphate (PYP) in affected muscles. We report this case with review of the literature.
Diabetes Mellitus ; Female ; Humans ; Infarction* ; Insulin ; Lower Extremity ; Magnetic Resonance Imaging ; Muscles ; Tomography, Emission-Computed, Single-Photon ; Young Adult

We present the case of a 7 year-old child who underwent angioplasty with a stent for anastomosis site stenosis between a left subclavian artery free graft and the left main coronary artery in an arterial switch operation.
Angioplasty* ; Child* ; Constriction, Pathologic ; Coronary Vessels ; Humans ; Stents* ; Subclavian Artery ; Transplants ; Transposition of Great Vessels

We evaluated long-term results of De Vega annuloplasty measured by cylindrical sizers for functional tricuspid regurgitation (FTR) and analyzed the impact of measured annular size on the late recurrence of tricuspid valve regurgitation. Between 2001 and 2011, 177 patients (57.9+/-10.5 yr) underwent De Vega annuloplasty for FTR. Three cylindrical sizers (actual diameters of 29.5, 31.5, and 33.5 mm) were used to reproducibly reduce the tricuspid annulus. Long-term outcomes were evaluated and risk factor analyses for the recurrence of FTR > or =3+ were performed. Measured annular diameter indexed by patient's body surface area was included in the analyses as a possible risk factor. Operative mortality occurred in 8 patients (4.5%). Ten-year overall and cardiac death-free survivals were 80.5% and 90.8%, respectively. Five and 10-yr freedom rates from recurrent FTR were 96.5% and 93.1%, respectively. Cox proportional hazard model revealed that higher indexed annular size was the only risk factor for the recurrence of FTR (P=0.006). A minimal P value approach demonstrated that indexed annular diameter of 22.5 mm/m2 was a cut-off value predicting the recurrence of FTR. De Vega annuloplasty for FTR results in low rates of recurrent FTR in the long-term. Tricuspid annulus should be reduced appropriately considering patients' body size to prevent recurrent FTR.
Adult ; Age Factors ; Aged ; Body Surface Area ; Cardiac Valve Annuloplasty ; Disease-Free Survival ; Echocardiography ; Female ; Humans ; Hypertension/complications ; Male ; Middle Aged ; Postoperative Complications ; Proportional Hazards Models ; Recurrence ; Risk Factors ; Treatment Outcome ; Tricuspid Valve/*physiopathology ; Tricuspid Valve Insufficiency/etiology/mortality/*surgery

STUDY DESIGN: Retrospective study. OBJECTIVE: To compare patients who underwent spinal revision surgery of adjacent segment degeneration with above one and above two vertebral segment preceded by initial spinal fusion surgery. SUMMARY OF LITERATURE REVIEW: The adjacent segment disease(ASD) occurs more frequently at the more proximal segment of the spinal fusion. Also, the preexisting degenerative segments (with discs or facet joints) not included in the fusion procedure, fusion segmental sagittal angle, fixed appliances method, gender, and age, have been accepted as the causes. MATERIALS AND METHODS: The patients were watched over a year after the spinal revision operation followed by initial spinal fusion of single or multiple segments; the subjects were limited to 41 patients. The average age, entity of diseases, average duration between the initial spinal fusion and the revision surgery, multiple clinical and radiographic parameters were evaluated and compared. RESULTS: Using the UCLA grade of intervertebral disc degeneration, the average grade of 1 level upper segment was 2.2 in group A and 1.9 in group B without statistical significance(p=0.426). However, the average grade of 2-level upper segment was 1.8 in group A and 2.4 in group B with significant difference(p=0.021). There was no statistical difference in other factors between the two groups. CONCLUSIONS: Patients with ASD of above two-vertebral segment after spinal fusion were more severe in disc degeneration than those with ASD of above one vertebral segment before initial spinal fusions.
Humans ; Intervertebral Disc Degeneration ; Retrospective Studies ; Spinal Fusion*

A 52-year-old woman with a history of general weakness, fatigue, weight loss, elevated serum levels of liver transaminase enzyme for three months underwent an F-18 FDG PET/CT scan to evaluate a cause of the hepatosplenomegaly found on abdominal ultrasonography. Initial PET/CT revealed markedly enlarged liver and spleen with intense FDG uptake. Otherwise, there were no areas of abnormal FDG uptake in whole body image. Histological evaluation by a hepatic needle biopsy demonstrated diffuse large B cell type lymphoma and final diagnosis for this patient was hepatosplenic B-cell lymphoma. She received five cycles of CHOP chemotherapy, and second PET/CT scan was followed after then. Follow-up PET-CT revealed normal sized liver with disappearance of abnormal FDG uptake. Hepatosplenic B-cell lymphoma is relatively rare and mostly presents as single or multiple nodules.1,2 Diffuse type hepatosplenic lymphoma is extremely rare and poorly recognized entity.3 The diagnosis is very difficult and complicated by the presence of misleading symptoms.4 In this rare hepatosplenic B-cell lymphoma case, F-18 FDG PET/CT scan provided a initial diagnostic clue of hepatosplenic lymphoma and an accurate chemotherapy response.
B-Lymphocytes ; Biopsy, Needle ; Body Image ; Fatigue ; Female ; Follow-Up Studies ; Hepatomegaly ; Humans ; Liver ; Lymphoma ; Lymphoma, B-Cell ; Middle Aged ; Spleen ; Weight Loss