Sex typing may become the start point in investigations that are usually performed through amelogenin typing. In cases involving genotype-phenotype discrepancy, amelogenin typing could yield misleading results. The rare XX male syndrome is characterized by a phenotypic male with a 46, XX female karyotype. In this point, this case report would help understand the importance of genotype-phenotype discrepancy.
Amelogenin ; Female ; Genes, sry ; Humans ; Karyotype ; Klinefelter Syndrome ; Male ; Y Chromosome

Hereditary spastic ataxia is a familial neurological disorder which exhibit the features of a progressive combined pyramidal tract and cerebellar deficiency. The main features are progressive gait disturbance, incoordination, nystagmus, visual impairment, hyperreflexia, extensor plantar response, peripheral neuropathy, and pes cavus. A 27-year-old male patient with spastic ataxic gait was evaluated. He showed characteristic features of hereditary spastic ataxia. There were another twelve affected members in four generations of his family which may be inherited by autosomal dominant pattern. One of them is reported with review of the literature on familial spastic ataxia.
Adult ; Ataxia* ; Family Characteristics ; Foot Deformities ; Gait ; Humans ; Male ; Muscle Spasticity* ; Nervous System Diseases ; Peripheral Nervous System Diseases ; Pyramidal Tracts ; Reflex, Abnormal ; Reflex, Babinski ; Vision Disorders

The spontaneous hematomyelia is an uncommon event and its predisposing conditions are vascular malformation, syringomyelia, pregnancy and delivery, angioma, hemophilia, anticoagulant therapy, etc. We have recently experienced the patient with spontaneous onset and resolving hematomyelia in the cervical spinal cord. A 30-year-old male patient with non-traumatic spinal shock was evaluated. On MRI, a hematomyelia along cervical spi-nal cord was revealed. A suspicious AV malformation was noticed at C3-4 level. Fol-low-up MRIs showed spontaneous resolution of the hematoma.
Adult ; Hemangioma ; Hematoma ; Hemophilia A ; Humans ; Magnetic Resonance Imaging ; Male ; Pregnancy ; Shock ; Spinal Cord ; Spinal Cord Vascular Diseases* ; Syringomyelia ; Vascular Malformations

Skeletal muscles are known to have tolerance to ischemia, but a prolonged ischemia can cause damage to muscular tissues. The ischemia-reperfusion injury results from the oxygen free radicals released by leucocytes and formed by the reaction of hypoxanthine and xanthine oxidase. Superoxide dismutase (SOD), one of major antioxidant enzymes ocurring in the various tissues of the body metabolizes or scarvanges the oxygen free radicals. Although many studies reported difference in tolerance to ischemia and reperfusion between white and red muscles, some other investigators failed in finding such difference. The present study was performed to examine effects of graded periods of ischemia and reperfusion on the cellular ultrastructure and activity of SOD in white and red muscles. The Sprague-Dawley rats (200~250 g) were used as experimental animals. Under pentobarbital (50 mg/kg IP) anesthesia, incision was made on lower abdomen and left common iliac artery was occluded by means of a vascular clamp for 2, 4 and 6 hour (hrs). Thereafter, the superficial portion of mid-belly of anterior tibial muscle and soleus muscles were excised at 0, 24 and 72 hrs after onset of reperfusion. The specimens were sectioned into slices, 2 mm in length, 1 mm in width and thickness. Some specimens were prepared for electron microscopic observation and others for determination of SOD activity by using antihuman Cu, Zn- and Mn-SOD antibodies. The results obtained were as follows. 1. In anterior tibial muscle, areas with loose electron-density and dilated cristae were observed in the mitochondria immediately after 2 hrs of ischemia, while widened intermyofibrillar spaces and dilated cisternae of sarcoplasmic reticulum were seen after 2 hrs and 24 hrs reperfusion. When subjected to 2 hrs ischemia and 72 hrs reperfusion, no significant change was found in the cellular ultrastructure. 2. In soleus muscle, electron density was loose in the matrix of mitochondria immediately after 2 hrs of ischemia, while cisternae of sarcoplasmic reticulum were dilalated after 2 hrs of ischemia and 24 hrs reperfusion. Following 2 hrs of ischemia and 72 hrs reperfusion, the electron microscopic findings were similar to those of normal rats. 3. The changes in cellular ultrastructure were more prominent in both the 4 hrs and 6 hrs ischemia groups, in which degree of ultrastructural changes were proportional to duration of reperfusion. 4. In anterior tibial muscle, trace or weak immunoreactivities of Cu, Zn- and Mn-SOD were seen, whereas trace immunoreactivity of Cu, Zn-SOD and trace or weak immunoreactivity of Mn-SOD were observed in soleus muscle. 5. The immunoreactivities of Cu, Zn- and Mn-SOD were not altered in 2 hrs ischemic and 72 hrs reperfused group, while they were increased slightly in 2 hrs ischemic and 24 hrs reperfused group. 6. In both muscles, the activity of SOD increased following 4 hrs or 6 hrs ischemia and 24 hrs or 72 hrs reperfusion. The changes in immunoreactivity of Mn-SOD were not different between two muscles, whereas immunoreactivity of Cu, Zn-SOD were higher in anterior tibial muscle. Consequently, it is suggested that significant ischemia reperfusion injuries are produced after 4~6 hrs ishemia followed by 24 hrs or 72 hrs reperfusion, that anterior tibial muscle is more susceptible to ischemic reperfusion injury and that the ischemic-reperfusion injury is closely related with activity of SOD.
Abdomen ; Anesthesia ; Animals ; Antibodies ; Free Radicals ; Humans ; Hypoxanthine ; Iliac Artery ; Ischemia* ; Mitochondria ; Muscle, Skeletal ; Muscles* ; Oxygen ; Pentobarbital ; Rats* ; Rats, Sprague-Dawley ; Reperfusion Injury ; Reperfusion* ; Research Personnel ; Sarcoplasmic Reticulum ; Superoxide Dismutase ; Xanthine Oxidase

Sinus of Valsalva aneurysms are rare cardiac anomalies and are usually caused by the separation of the aortic wall media from the valve ring tissue. These aneurysms frequently rupture into the low-pressure areas like the right ventricle and right atrium, rarely do they rupture into the left atrium, left ventricle, pericardial sac, or pulmonary artery. Cerebral infarction has been reported as a rare complication of unruptured sinus of Valsalva aneurysm. We experienced very rare two cases of Valsalva aneurysms of right coronary sinus dissecting into the interventricular septum in patients with cerebral infarction. In two cases these aneurysms ruptured into the left ventricle. These aneurysms were excised and the defect was closed with autopericardium. At the end of the surgical repair, coaptation was found to be insufficient and aortic valve replacement was undertaken.
Aneurysm* ; Aortic Valve ; Cerebral Infarction* ; Coronary Sinus ; Heart Atria ; Heart Ventricles ; Humans ; Pulmonary Artery ; Rupture ; Sinus of Valsalva*

An anomalous systemic arterial supply to the normal basal segments of the left lower lobe without sequestration is a rare congenital anomaly. It differs from classical bronchopulmonary sequestration in that the involver lung retains a normal connection to the bronchial tree, although some place this entity exists within the broad framework of pulmonary sequestration. We experienced a case of a woman who presented with a nodular lesion on a chest X-ray. Contrast-enhanced CT diagnosed her as having an anomalous systemic arterial supply to the normal basal segments of the left lower lobe. This case is reported with a brief literature review.
Bronchopulmonary Sequestration ; Female ; Humans ; Lung* ; Thorax ; Tomography, X-Ray Computed ; Trees

BACKGROUND AND OBJECTIVE: Percutaneous transluminal coronary angioplasty of chronic total occlusion has been limited by a relatively low success rate and a high restenosis rate. This study investigated procedural outcome, factors predictive of procedural success and safety of coronary angioplasty for chronic total coronary occlusion. MATERIALS AND METHODS: The study population was composed of 45 lesions attempting PTCA with or without stent implantation for recanalization of chronic total coronary occlusion between January 1997 and July 1999. The clinical and angiographic data of the 45 lesions were reviewed. The results of successful PTCA in 28 lesions were compared with those in 17 lesions whose PTCA was failed. RESULTS: The overall success of balloon angioplasty and stenting was achieved in 28 lesions (62.2%) and did not differ significantly by clinical variables. The most common cause of failure of balloon angioplasty was inability to pass the guide wire across the occlusion( 14 of 23 lesions, 61%). Procedural success was more common in patients with occlusions with a tapered entry configuration(77.2% vs. 47.8%, p=.042), with lesions without side branches(82.3% vs. 50%, p=.03). Multiple logistic regression analysis identified the absence of side branch(p<0.01) and the presence of a tapered entry configuration(p<0.05) as independent predictors of procedural success. One case(2.2%) needed emergency coronary bypass surgery after failure to recanalize the occluded vessel. There was no Q wave acute myocardial infarction, death. CONCLUSIONS: The favorable cases(>60%) of chronic total coronary occlusions can be successfully dilated by balloon angioplasty with or without stent implantation, with a major complication rate of 2.2%. Therefore, with careful patient selection, we need to try the aggressive recanalization for chronic total coronary occlusion.
Angioplasty ; Angioplasty, Balloon ; Angioplasty, Balloon, Coronary* ; Coronary Occlusion ; Emergencies ; Humans ; Logistic Models ; Myocardial Infarction ; Patient Selection ; Stents

Takayasu's arteritis is generally recognized as a chronic, idiopathic, inflammatory disease, which affects the aorta and the proximal portions of its major branches. We experienced a patient with Takayasu's arteritis who was presented with main pulmonary artery stenosis and right coronary ostial occlusion without involvement of aorta nor its major branches. She was managed with pulmonary arterioplasty and coronary artery bypass graft. This case emphasize that the disease cannot affect the aorta.
Aorta ; Constriction, Pathologic* ; Coronary Artery Bypass ; Coronary Vessels* ; Humans ; Pulmonary Artery* ; Takayasu Arteritis* ; Transplants

No abstract available.
Arteries* ; Atherectomy*

Atrial septal aneurysm (ASA) was reported as a cause of unknown origin of central or peripheral thromboembolism with patent foramen ovale, aortic debris and spontaneous echo contrast. Especially the paradoxical right to left shunt via micro-fenestration on this sac may be the important cause of this embolism. We report a case of 39 year-old female patient who had atrial septal aneurysm with multiple renal infarction. Symptom was improved with aneurysmectomy and patch closure, then long term anticoagulation has been continued.
Adult ; Aneurysm* ; Embolism ; Female ; Foramen Ovale, Patent ; Humans ; Infarction* ; Thromboembolism