No abstract available.
Breast* ; Female ; Humans ; Milk, Human*

No abstract available.
Peutz-Jeghers Syndrome*

No abstract available.
Child* ; Glomerulonephritis* ; Humans

Williams syndrome is a congenital disorder characterized by mental retardation, loquacious personalities, dysmorphic face, and vascular and valvular abnormalities. The etiology of this syndrome was one allelic loss of elastin gene, exhibiting a submicroscopic deletion, at 7q11.23. Sudden death is an infrequently recognized complication. The mechanism of sudden death is explained by myocardial ischemia, decreased cardiac output, and arrhythmia by anatomical abnormality of coronary artery stenosis and severe biventricular outflow tract obstruction. We report an autopsy case of a 80 day-old male with Williams syndrome. Five days before admission, cardiac murmur was detected incidentally on ascultation at a local clinic during a visit for vaccination. He was transferred to our hospital and cardiac catheterization was done. He died suddenly next day. Postmortem examination revealed a dysmorphic face and multiple cardiovascular abnormalities including supravalvular aortic stenosis with narrowed coronary artery ostia, supravalvular pulmonic stenosis, secundum type of atrial septal defect, right ventricular hypertrophy, and renal artery stenosis. Histologically, aorta and pulmonary, bronchial, and renal arteries showed markedly hyperplastic medial elastic laminae approximately three times thick compared to those of age-matched normal artery. The elastic fibers of the innermost two thirds of media were disposed in a normal orderly parallel fashion. In outer third of the media, the elastic fibers had lost the normal orderly arrangement.
Aorta ; Aortic Stenosis, Supravalvular ; Arrhythmias, Cardiac ; Arteries ; Autopsy* ; Cardiac Catheterization ; Cardiac Catheters ; Cardiac Output ; Cardiovascular Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Coronary Stenosis ; Coronary Vessels ; Death, Sudden ; Elastic Tissue ; Elastin ; Heart Murmurs ; Heart Septal Defects, Atrial ; Humans ; Hypertrophy, Right Ventricular ; Infant* ; Intellectual Disability ; Loss of Heterozygosity ; Male ; Myocardial Ischemia ; Pulmonary Valve Stenosis ; Renal Artery ; Renal Artery Obstruction ; Vaccination ; Williams Syndrome*

Williams syndrome is a congenital disorder characterized by mental retardation, loquacious personalities, dysmorphic face, and vascular and valvular abnormalities. The etiology of this syndrome was one allelic loss of elastin gene, exhibiting a submicroscopic deletion, at 7q11.23. Sudden death is an infrequently recognized complication. The mechanism of sudden death is explained by myocardial ischemia, decreased cardiac output, and arrhythmia by anatomical abnormality of coronary artery stenosis and severe biventricular outflow tract obstruction. We report an autopsy case of a 80 day-old male with Williams syndrome. Five days before admission, cardiac murmur was detected incidentally on ascultation at a local clinic during a visit for vaccination. He was transferred to our hospital and cardiac catheterization was done. He died suddenly next day. Postmortem examination revealed a dysmorphic face and multiple cardiovascular abnormalities including supravalvular aortic stenosis with narrowed coronary artery ostia, supravalvular pulmonic stenosis, secundum type of atrial septal defect, right ventricular hypertrophy, and renal artery stenosis. Histologically, aorta and pulmonary, bronchial, and renal arteries showed markedly hyperplastic medial elastic laminae approximately three times thick compared to those of age-matched normal artery. The elastic fibers of the innermost two thirds of media were disposed in a normal orderly parallel fashion. In outer third of the media, the elastic fibers had lost the normal orderly arrangement.
Aorta ; Aortic Stenosis, Supravalvular ; Arrhythmias, Cardiac ; Arteries ; Autopsy* ; Cardiac Catheterization ; Cardiac Catheters ; Cardiac Output ; Cardiovascular Abnormalities ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Coronary Stenosis ; Coronary Vessels ; Death, Sudden ; Elastic Tissue ; Elastin ; Heart Murmurs ; Heart Septal Defects, Atrial ; Humans ; Hypertrophy, Right Ventricular ; Infant* ; Intellectual Disability ; Loss of Heterozygosity ; Male ; Myocardial Ischemia ; Pulmonary Valve Stenosis ; Renal Artery ; Renal Artery Obstruction ; Vaccination ; Williams Syndrome*

Ancient schwannoma is a variant of schwannoma and is characterized slowly growing tumor with degenerative change. And it is reported that schwannoma is relatively rare in extensor area. As a rare cause of solitary ancient schwannoma in extensor area of upper arm, we report it.
Arm ; Neurilemmoma

We experienced a case of MRKH syndrome in a 24-year-old female which was combined with sacral agenesis, neurogenic bladder, and duplicated ureter associated with vesicoureteral reflux in the right side.
Female ; Humans ; Ureter ; Urinary Bladder, Neurogenic* ; Vesico-Ureteral Reflux ; Young Adult

No abstract available.

The CT findings and their differential points were evaluated by reviewing the CT scans of 47 patients with destructive lesions of vertebral bodies which included tuberculous spondylitis(23), pyogenic infection(9), syphilitic spondylitis(1) and malignant lesions(14). Twenty-one(91.3%) of 23 patients with tuberculous spondylitis showed mixed osteolytic and osteosclerotic patterns of bony destruction. Six(66.7%) of 9 patients with pyogenic infection and 10(71.4%) of 14 malignant lesions showed osteolytic pattern of bony destruction. Thirty(90.9%) of 33 infections lesions including pyogenic infection and tuberculous spondylitis involved intervertebral disc, while the involvement of intervertebral disc was not found in malignant lesions. The Swisscheese appearance of bony destruction was commonly seen in tuberculous spondylitis, but pyogenic infections and malignant lesions more commonly revealed geographic or moth-eaten appearance. The sequestral pattern and sclerotic rims in and around bony destruction were mainly seen in tuberculous spondylitis, and they were thought to be specific findings in tuberculous spondylitis. CT of the spine appears to offer the detailed findings of vertebral body destruction and may be a useful adjunct in differentiation between tuberculous spondylitis, pyogenic infections and malignant lesions of the spine.
Diagnosis, Differential* ; Humans ; Inflammation* ; Intervertebral Disc ; Spine ; Spondylitis ; Tomography, X-Ray Computed

No abstract available.
Female ; HELLP Syndrome* ; Pregnancy