Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, +18.
Ankylosis ; Diagnosis ; Extremities ; Fetal Growth Retardation ; Pathology ; Phenotype* ; Polyhydramnios ; Trisomy*

The utility of computerized tomogaphy in the study of the anatomy, and pathology of the musculoskeletal system has been the subject of considerable interest since the introduction of CT scanning. It provides an accurate and detailed cross-sectional image of normal anatomical structures and shows the relation of masses to these structures. In order to assess the utility of computed tomography, we analyzed the 92 clinical cases. We divided our experience into three major categories: spinal lesios, pelvic (including hip) lesions, and lesions of extremities. The advent of a new prototype scanning device has made it possible to exam a variety of abonormalities in the orthopedic diseases in a manner not previously possible.
Extremities ; Musculoskeletal System ; Orthopedics ; Pathology ; Tomography, X-Ray Computed

A case of alopecia universalis in a 45-year-old male was reported. The hair loss initiated on the eyebrows and progressed to the whole body, but the scalp hairs were well preserved. Histopathologic features of eyebrows were compatible findings with alopecia areata. This is a unique case of alopecia universalis without any involvement of scalp hairs.
Alopecia/*pathology ; Case Report ; Extremities ; Eyebrows/pathology ; Genitalia, Male ; Hair/*pathology ; Human ; Male ; Middle Age ; Scalp/*pathology ; Skin/pathology

BACKGROUNDThe protective effects of transient limb ischemia (TLI) induced by several cycles of intermittent pressure cuff inflation and deflation for a period have been widely investigated, however the reliability of this protocol has not been clearly verified. Our study aimed to investigate the reliability of pressure cuff induced TLI in conscious rabbits.

METHODSEight New Zealand rabbits were subjected to TLI without anesthesia. TLI consisted of 3 cycles of ischemia and reperfusion induced by inflating the cuff placed on the left lower limb to 200 mmHg for 5 minutes followed by deflating the cuff for 5 minutes. Skin color, pulse oxygen saturation (SpO2), pulse rate (PR), plethysmogram waveform (Pleth), and ultrasound detection of the blood flow in the extremity distal to the ischemic segment were observed to confirm ischemia and reperfusion during TLI. The frequency of severe limb movement during TLI was also recorded to assess the amenability of this protocol in conscious rabbits.

RESULTSThe skin color of the extremity distal to the ischemic segment changed from bright red to dark purple after inflating the cuff to 200 mmHg, and returned to normal after cuff deflation. Pleth, PR and SpO2 disappeared during ischemia and restored during reperfusion in the monitor. Blood flow of the left posterior tibial artery was completely blocked by a pressure of 200 mmHg during ischemia, and recovered immediately after cuff deflation. The frequency of severe limb movement in supine position was higher than that in prone position (P < 0.05), but there was no severe limb movement that could result in disturbance to ischemia when the rabbits were placed in prone position.

CONCLUSIONPressure cuff inflating to 200 mmHg for 5 minutes and deflating for 5 minutes is a reliable regimen to induce TLI in conscious rabbits.

Animals ; Disease Models, Animal ; Extremities ; pathology ; Ischemia ; etiology ; pathology ; Ischemic Preconditioning ; Male ; Rabbits

Aged ; Dermis ; pathology ; Disease Progression ; Extremities ; Face ; Fatal Outcome ; Humans ; Male ; Sarcoma, Myeloid ; pathology ; Skin ; pathology ; Thorax

Occlusion or stenosis of subclavian artery by atherosclerosis is uncommon pathology compare to atherosclerosis of lower extremity. Most of the cases involve left subclavian artery and show vertebral-basilic ischemia and/or arm ischemia. Surgical intervention including bypass or transposition are performed to relieve the symptoms of obstruction but percutaneous intraluminal angioplasty and insertion of stent also be done with comparable results. Here we report 4 cases of symptomatic subclavian artery occlusion which have been managed by authors, and summarize all the cases reported in korean literature.
Angioplasty ; Arm ; Arteries ; Atherosclerosis ; Constriction, Pathologic ; Extremities ; Ischemia ; Lower Extremity ; Pathology ; Stents ; Subclavian Artery*

Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic face, and frequent respiratory insufficiency. Four genes have been reported to be associated with the disease: TPM2, TPM3, ACTA1, and NEB. Here we describe that a patient presenting with mild limb weakness with facial affection showed cap structures on muscle pathology and carried a heterozygous TPM3 mutation.
Extremities ; Humans ; Muscle Weakness ; Muscular Diseases* ; Mutation, Missense* ; Myofibrils ; Pathology ; Respiratory Insufficiency ; Sarcolemma ; Tropomyosin

Congenital fiber type disproportion (CFTD) is a form of congenital myopathy characterized by histologic findings of the smallness of type 1 fiber and type 1 fiber predominance. It is usually associated with hypotonia and motor weakness of the limb muscles at birth or the neonatal period. We report a 6-year-old girl with limb weakness and ophthalmoplegia, whose muscle pathology showed the classic pattern of CFTD without any other abnormality.
Child ; Extremities ; Female ; Humans ; Muscle Hypotonia ; Muscles ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Ophthalmoplegia* ; Parturition ; Pathology

Combined Modality Therapy ; Extremities ; pathology ; Humans ; Sarcoma ; therapy ; Soft Tissue Neoplasms ; therapy

Bone Neoplasms ; pathology ; surgery ; Bone Transplantation ; Extremities ; Humans ; Limb Salvage ; Neoplasm Staging ; Reconstructive Surgical Procedures