The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism.

OBJECTIVE: Autism appears to have a strong genetic component. The product of the NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene is included in the mitochondrial electron transport chain. METHOD: We performed a case-control study of 235 patients with autism and 214 controls and examined three single-nucleotide polymorphisms (SNPs) within this gene in a Japanese population. We then conducted a transmission disequilibrium test (TDT) analysis in 148 autistic trios. RESULTS: In the case-control study, two SNPs (rs12666974 and rs3779262) showed a significant association with autism (P=0.00064 and 0.00046 respectively). Furthermore, a haplotype containing these two SNPs showed a significant association (P-global=0.0013, individual haplotype A-A: P=0.010). In TDT analysis, the global and A-A haplotype P-values also indicated significant associations. Minor allele and genotype frequencies were decreased in the autistic subjects. CONCLUSION: We found significant association between the NDFA5 gene and autism.

A case of a large retroperitoneal liposarcoma presenting as an incarcerated inguinal hernia.

We report a rare case of retroperitoneal liposarcoma developing within an incarcerated inguinal hernia. A 53-year-old man presented to our hospital with left inguinal mass. Preoperative computed tomography revealed an intraabdominal huge mass, and a clinical diagnosis of liposarcoma. Physical findings except for the inguinal mass and laboratory examination, including tumor markers (CEA, CA19-9), were within normal range. Intraoperatively, the mass was incarcerated in the inguinal canal and involved the left testis. We performed a radical tumor resection, including a left orchiectomy. The resected specimen measured 45 x 30 cm and weighed 7,510 g. Histopathologically, the tumor was diagnosed as a well-differentiated liposarcoma, and originated from retroperitoneum. We did not undergo adjuvant therapy in consideration of histopathological subtype and curable surgical treatment. The patient is well and shows no evidence of recurrence four months after the operation.

Intraosseous lipoma of the humeral head: MR appearance.

Intraosseous lipoma is the rarest benign primary bone tumor. We report a case of juxtaarticular intraosseous lipoma in the humeral head of a 50-year-old man. Roentgenographic, computed tomographic (CT), magnetic resonance (MR), scintigraphic, and histologic findings of this case are presented.

Ossified intramuscular hemangioma: multimodality imaging findings.

Whereas calcification of hemangiomas is common, ossification is unusual. Multimodality imaging findings of a rare case of an ossified intramuscular hemangioma in the calf of a 24-year-old woman are presented. Radiographic, computed tomographic, magnetic resonance (MR), scintigraphic, and histologic features of this case are reported. The radiologic differential diagnosis of an ossified mass in soft tissue is also discussed.

Establishment and characterization of cell line TNMY1 derived from human malignant fibrous histiocytoma.

Although malignant fibrous histiocytoma (MFH) is one of the most common soft tissue sarcomas, its pathogenesis remains unclear. In this study, a cell line derived from human MFH, TNMY1, was established from a metastatic chest-wall lesion of a 60-year-old woman with MFH. The TNMY1 cell line was passaged 95 times, and it still retained the biological characteristics of the original tumor. TNMY1 consists of spindle-shaped cells and pleomorphic cells associated with multinucleated giant cells. Immunohistochemical studies showed that the spindle-shaped and pleomorphic cells were positive for vimentin, CD68 and alpha-smooth muscle actin, but negative for epithelial membrane antigen, desmin, muscle actin, alpha-sarcomeric actin, myoglobin, lysozyme and S-100 protein. The cells expressed collagen types I, III and V. These results indicate that MFH may originate from mesenchymal stem cells with the potential to differentiate into either fibroblasts or histiocytes. An elevated level of collagen type V mRNA expression is considered to support a diagnosis of MFH.

Parosteal lipoma of the distal phalanx: a case report and review of the literature.

A rare case of parosteal lipoma of the distal phalanx in a small finger of a 68-year-old woman is reported. Radiographs revealed an osseous projection and cortical irregularity in the distal phalanx of the right small finger. Magnetic resonance imaging showed a hyperintense soft tissue mass adjacent to the phalanx on T1-weighted and T2-weighted images. Histologically, the lesion consisted of mature fat cells. Marginal excision of the lesion was curative.

Contained rupture of the aneurysm of common iliac artery associated with pyogenic vertebral spondylitis.

STUDY DESIGN: A case report. OBJECTIVES: To report and discuss a case of contained rupture of the aneurysm of common iliac artery associated with pyogenic vertebral spondylitis, so that investigators and practitioners may avoid the diagnostic and therapeutic pitfalls associated with pyogenic vertebral spondylitis and aortic disease. SUMMARY OF BACKGROUND DATA: Pyogenic vertebral spondylitis is a rare disorder that may have serious consequences, including death, if it is not diagnosed promptly and treated effectively. The association of pyogenic vertebral spondylitis with infection of the aorta is a rare but potentially fatal condition that requires prompt diagnosis and aggressive surgical and medical therapy. To our knowledge, this is the first report of a contained rupture of the aneurysm of common iliac artery case associated with pyogenic vertebral spondylitis resulting from an infection with Bacteroides fragilis,although Salmonellae infections are commonly associated with vertebral osteomyelitis and lesions of the contiguous aorta. METHODS: A 60-year-old man with chronic lower back pain began to experience a severe pain and had increased difficulty in walking. An MRI scan showed an increased signal in the L4-L5 disc space and an abscess extending into the spinal canal. The presumptive diagnosis was infective spondylitis. While performing a CT-guided needle biopsy, an unexpected contained rupture of the aneurysm of common iliac artery was discovered. RESULTS: A wide resection of all infected tissue, including the right common iliac artery and bony lesions, was performed in combination with antimicrobial therapy. A cryopreserved aortic allograft was used to reconstruct the artery, and an iliac strut graft was used to fill the debrided vertebral cavity. The patient's postoperative recovery was uneventful. CONCLUSION: The coexistence of pyogenic vertebral spondylitis and lesions of the aorta is rare, but may be lethal if not diagnosed promptly and treated effectively. Even if a patient's condition is stable and the hematocrit is normal, it is important to consider the possibility of a contained rupture of a mycotic abdominal aneurysm in all patients with vertebral osteomyelitis who have acute episodes of unusual severe back pain. CT is sometimes more beneficial than MRI in the identification and characterization of contained rupture of aneurysms.

Recurrent calcified spinal meningioma detected by plain radiograph.

STUDY DESIGN: A case report of a patient presenting with a rare calcified spinal meningioma that recurred and became symptomatic 33 years after initial surgery was performed. OBJECTIVES: To demonstrate a calcified recurrent spinal meningioma visible on a plain radiograph. The present case is discussed in conjunction with a review of previous cases of calcified spinal meningioma. SUMMARY OF BACKGROUND DATA: Meningioma is a common spinal tumor that has a favorable prognosis if resected completely. Microscopic calcification is frequently found in spinal meningiomas because of psammoma bodies. However, calcified meningiomas in the spinal canal that can be detected on a plain radiograph are uncommon. To the authors' knowledge, there have been no previous reports of recurrent spinal meningioma with calcification visible on a plain radiograph. METHODS: A patient experienced difficulty in walking and was diagnosed as having a spinal meningioma. Laminectomies and a total tumor excision were performed. Histologically, the tumor was diagnosed as a psammomatous meningioma. The tumor recurred and became symptomatic 33 years after the initial operation. The tumor was detected on a plain radiograph, appearing as a calcified tumor at the same thoracic level as the site of the initial operation. The recurrent tumor was completely removed, and a histologic examination showed huge psammoma bodies with calcification, but without ossification. RESULTS: Preoperative paraplegia improved after the surgery, and she was able to walk with a crutch. The patient was discharged from the hospital. CONCLUSIONS: The recurrent psammomatous meningioma contained clusters of calcified psammoma bodies, resulting in a hard tumor that was visible on a plain radiograph.

De novo malignant transformation of giant cell tumor of bone.

Two cases of malignant lesions are reported, both of which arose secondary to an originally benign giant cell tumor (GCT) of bone. The first case was a typical benign GCT, which occurred in the left proximal tibia of a 31-year-old woman. The tumor was treated by curettage and bone grafting. However, it recurred twice during 15 years of follow-up. The second recurrence showed that the lesion histologically had turned into malignant fibrous histiocytoma. The second case also started as an initially benign GCT that arose in the left distal femur of a 41-year-old man. The patient underwent curettage and bone grafting. The lesion recurred 13 years postoperatively. The histological appearance of the recurrent tumor showed it to be an osteogenic sarcoma. In both patients, radiation and never been given. Malignant transformation has rarely been reported in patients with GCT of bone who have not received radiation treatment.

Hemangiomatosis presenting as meralgia paresthetica.

The authors present a 15-year-boy with meralgia paresthetica caused by the recurrence of a diffuse congenital hemangiomatosis in the pelvic region. Relief of the patient's symptoms was achieved by neurolysis of the lateral femoral cutaneous nerve in the thigh and partial excision of the tumor. To our knowledge, hemangiomatosis has never been suggested as a cause of meralgia paresthetica.

Fibroma of a tendon-sheath presenting as toe deformity.

We describe a rare manifestation fibroma in a tendon-sheath in an 83-year-old man. The patient complained initially of a slowly progressive spreading, apart of the right second and third toes. A mass was found in the plantar aspect of the foot. It was completely excised at surgery. Histological examination revealed sparse spindle or stellate cells with slit-like vessels in the dense collagenous matrix. There had been no recurrence at follow-up 17 months after surgery.

Parosteal fasciitis of the clavicle.

A rare case of parosteal fasciitis arising from the periosteum of the left clavicle in a 27-year-old woman is reported. Magnetic resonance imaging demonstrated the lesion surrounding the periosteum of the clavicle. The lesion was iso-intense with muscle on T(1)-weighted images and hyperintense on T(2)-weighted images. At surgery, the lesion was discovered to be densely adherent with the periosteum, and excised along with the periosteum. Histopathological examination revealed the proliferation of myofibroblasts in a vague storiform or short fascicular pattern. A large amount of extravasated erythrocytes, and a few lymphocytes were present in the matrix. There were some foci of abundant myxoid materials. Immunohistochemical study showed the cells to be positive for vimentin, alpha-smooth muscle actin and HHF35, but negative for desmin. There was no local recurrence at a 6 months postoperative follow up.

Use of hydroxyapatite to fill cavities after excision of benign bone tumours. Clinical results.

We treated 75 patients with benign bone tumours by curettage and filling the defect with calcium hydroxyapatite (HA). There were 28 women and 47 men with a mean age of 27.7 years (3 to 80). The mean follow-up was for 41.3 months. Postoperative radiological assessment revealed that the implanted HA was well incorporated into the surrounding host bone in all patients. Two patients suffered fractures in the postoperative period. Two patients complained of pain associated with HA in the soft tissues, but this diminished within six months. No patient had local pain at the final follow-up. Recurrence of the tumour was seen in three cases. Histopathological study of the implanted area showed removal of the HA by histiocytes and multinucleated giant cells, and the formation of much appositional bone. We conclude that HA is an excellent bone-graft substitute in surgery for benign bone tumours.

Solid aneurysmal bone cyst in the humerus.

We report on a 69-year-old woman with a solid variant of aneurysmal bone cyst (solid ABC) in the left humerus with a pathological fracture. Radiographically, the lesion exhibited a relatively well-defined osteolytic lesion in the diaphysis of the left humerus. On magnetic resonance (MR) imaging, the medullary lesion exhibited a homogeneous signal intensity isointense with surrounding normal muscles on the T1-weighted images and a mixture of low and high signal intensity on the T2-weighted images. Contrast-enhanced T1-weighted images revealed diffuse enhancement of the entire lesion. The pathological study showed a proliferation of fibroblasts, histiocytes, chronic inflammatory cells and numerous multinucleated giant cells in a collagenous matrix. Abundant osteoid formation in the matrix was observed, but the cells were devoid of nuclear atypia. Aneurysmal cystic cavities were absent. A review of the English literature found 22 cases of solid ABC of the long bones.

Anaplastic osteosarcoma with abundant eosinophilic cytoplasm and minimal osteoid production.

A case of osteosarcoma with unusual microscopic features, occurring in the right proximal tibial metaphysis of a 12-year-old boy is reported. Radiographically, the tumor was ill-defined and purely osteolytic. On gross examination, the tumor was soft, fragile, spongy and red to brown in color. Microscopically, the tumor consisted of pleomorphic cells possessing abundant eosinophilic cytoplasm, including cells larger than 100 microm in diameter. The cells were arranged in a sheet, with few extracellular collagen fibers. Multiple sectioning of the specimens revealed a small amount of osteoid production. Immunohistochemical study revealed a positive reaction for vimentin and osteocalcin. Electron microscopic study suggested the fibroblastic or osteoblastic origin of the cells.

Dedifferentiated liposarcoma with chondroblastic osteosarcomatous dedifferentiation.

We describe a rare case of dedifferentiated liposarcoma with features resembling chondroblastic osteosarcoma in the dedifferentiated component. The tumor was removed from the left thigh in a 78-year-old male. It consisted of a well-differentiated liposarcoma and an anaplastic component that contained numerous osteoid and cartilaginous tissues surrounded by high-grade spindle cell sarcoma. To our knowledge, only two cases similar to the divergent chondroblastic osteosarcomatous dedifferentiation of this disease have been reported in the literature.