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.

The effects of age on rabbit MCL fibroblast matrix synthesis in response to TGF-beta 1 or EGF.

In this study, we examined the effects of age on collagen and total protein synthesis by ligament fibroblasts in response to growth factors. Three different doses of transforming growth factor-beta 1 (TGF-beta 1) or epidermal growth factor (EGF) were individually added to in vitro fibroblast cultures from the medial collateral ligament (MCL) of skeletally immature (age 3 months), mature (age 12 months) and senescent (age 48-51 months) rabbits. Analysis of the effects of age revealed that fibroblasts from senescent rabbits produced significantly less collagen in response to TGF-beta 1 or EGF stimulation when compared to fibroblasts from immature rabbits. Furthermore, increased age was found to result in significant reductions in the baseline levels of collagen synthesis but not total protein synthesis. Additionally, collagen and total protein synthesis by MCL fibroblasts were significantly affected by the TFG-beta 1 dose, but not by the EGF dose. When fibroblasts were normalized to their own controls, the increase in collagen and total protein synthesis due to TGF-beta 1 and EGF for the senescent group were found to be greater than those for the skeletally immature rabbits at all doses. This demonstrates that MCL fibroblasts from senescent rabbits are responsive to growth factors.

Taste responses in the facial lobe of the carp, Cyprinus carpio L.

Single unitary discharges in the facial lobe of carp, Cyprinus carpio L., were studied electrophysiologically in response to chemical stimulation of the chemoreceptors of the facial skin. Of 258 neurons recorded, 95% were facilitated by taste stimuli and 5% were inhibited. According to responsiveness to the 4 basic tasting substances, the taste neurons were classified into 5 types: type I which was activated by one stimulus (43% of total neurons), type II by two (35%), type III by three (12%), type IV by 4 (5%), and type V which was inhibited by certain qualities (5%). Statical analysis revealed that responsiveness of taste neurons differed somewhat in receptive fields of the face. The taste neurons in the barbel and lip areas of the facial lobe showed variable responsiveness to chemical solutions, but those in other areas belonged generally to types I or II and did not respond to sucrose. Sodium chloride solution was the most effective among the 4 basic stimuli in this experiment. About 90% of the taste neurons also responded to mechanical stimulation of taste receptive fields. Tactile neurons in the facial lobe were localized in a topographical manner and the taste neurons were arranged in the tactile areas, but chemotopical organization was not recognized in the present study.

Taste responses in the superior secondary gustatory nucleus of the carp, Cyprinus carpio L.

Single unit discharges in the superior secondary gustatory nucleus of the carp, Cyprinus carpio L., were studied electrophysiologically in response to chemical stimulation of the external chemoreceptors of the facial skin surface. Of 36 gustatory neurons recorded, 80.6% were facilitated by taste stimuli and 19.4% were inhibited. The gustatory neurons were classified according to their responsiveness to the 4 basic taste substances and, except the inhibitory type, did not differ remarkably from the primary and secondary gustatory neurons. More inhibitory type (19.4%) neurons occurred at higher levels of the gustatory system. As in the primary and secondary levels, sodium chloride and acetic acid solutions were more effective stimuli than quinine HCl and sucrose. The ascending secondary gustatory fibers project bilaterally to the superior gustatory nucleus of the carp. About 20% of the gustatory neurons respond to stimulation of only the contralateral facial skin while 27.8% respond to stimulation of either side of the face. The latter neuron type showed very complicated responses, and were classified into 'Uniform', 'Summation', 'Contra. greater than Ipsi.' and 'Quality field' types. The remaining 50% of the neurons respond only to stimulation on the ipsilateral side.

Comparison of chemoreceptions of terminal buds and pit organs of the carp, Cyprinus carpio L.

Neural responses to several chemicals of the pit organs and terminal buds on the facial skin of the carp were compared electrophysiologically. Nerve inpulses from the pit organs were larger than those from the terminal buds. The pit organs were more sensitive to salts and especially acids than the terminal buds. The former did not respond to sucrose, silk worm pupa extract, betaine and amino acids except acidic ones. The latter, however, responded well to them.

Electrophysiological evidence for the topographical arrangement of taste and tactile neurons in the facial lobe of the channel catfish.

Neural responses in the facial lobe of th channel catfish to chemical and mechanical stimulation of the external skin surface were studied electrophysiologically. Taste and tactile neurons in the lobe were organized in a somatotopic manner, which confirms the anatomical reports of the facial lobe in the bullhead catfish, but is markedly different from that of the Cyprinidae. The taste neurons were arranged generally in the more dorsal regions of the tactile sensitive areas and responded with highest frequency to L-alanine or L-arginine HCI among several amino acids tested. The mechanically responsive neurons in the deeper layer of the antero-medial portion of the lobe, possibly corresponding to the intermediate nucleus of the facial lobe, had large receptive fields ranging from 100 mm to the whole body surface; in addition, some of these neurons showed lateral inhibition. The present study revealed that the facial lobe of the channel catfish is a center not only for gustatory input, but also for tactile information.

Quinine suppression of single facial taste fiber responses in the channel catfish.

Two groups of single facial taste fibers that were responsive to quinine hydrochloride (QHCl) and amino acids were identified in the channel catfish, Ictalurus punctatus. Group I fibers were significantly more excited by quinine hydrochloride (QHCl) than were group II fibers. QHCl (10(-3) M), as one component in a binary mixture, suppressed taste responses of group II fibers to 10(-4) M amino acids (other component) by 61%, but did not inhibit significantly the responses to L-alanine of group I fibers. QHCl (10(-2) M) suppressed the response to 10(-4) M L-alanine of group I fibers by 58% and group II fibers to 10(-4) M L-alanine, L-arginine and L-proline by 89-100%. The suppression of amino acid responses of both groups of fibers by QHCl was reversible in subsequent testing of stimuli in the absence of QHCl. QHCl also suppressed the taste responses to other bitter stimuli [10(-3) M caffeine and 10(-2) M denatonium benzoate(DB)]; however, neither caffeine nor DB suppressed amino acid taste responses. Possible mechanisms for the suppressive effect of QHCl on taste nerve activity are discussed.

Topographical organization of taste and tactile neurons in the facial lobe of the sea catfish, Plotosus lineatus.

An extraordinary development of the paired medullary facial taste nuclei, the facial lobes, occurs in the sea catfish, Plotosus lineatus. Each of the facial lobes is divided by fiber fascicles into 5 highly distinct lobules or subnuclei, constituting 5 longitudinal columns through the lobe. Extracellular, electrophysiological recordings of neurons within the respective subnuclei of the facial lobe indicate superimposable taste and tactile neural maps organized in a somatotopic manner.

Morphological evidence for a direct projection of trigeminal nerve fibers to the primary gustatory center in the sea catfish Plotosus anguillaris.

The central projections of the ramus mandibularis were examined in the Japanese sea catfish, Plotosus anguillaris by using the technique of transganglionic tracing with horseradish peroxidase (HRP). This ramus receives fibers from both the trigeminal and facial nerves and supplies primarily the two mandibular barbels. Two pathways for a direct trigeminal projection to the facial lobe (FL) were found: one from the main descending root of the Vth nerve (MRDV) to the medial portion of the FL, approximately midway between the rostro-caudal axis of the FL and a second, from deep RDV to the intermediate nucleus (NIF), beneath the medial lobule of the FL. The facial fibers project exclusively onto the medial portion of the FL and the NIF. The results show that fibers of these two cranial sensory nerves supplying the mandibular barbels converge centrally on the medial portion of the FL, indicating that the FL of the Japanese sea catfish is a highly differentiated center for both gustation and somatosensation.

Effect of growth factors on matrix synthesis by ligament fibroblasts.

Although it has been reported that several growth factors modulate soft-tissue healing, the specific effects of growth factors on protein synthesis during ligament healing have not been widely investigated. In this study, we examined the effects of basic and acidic fibroblast growth factors, transforming growth factor beta 1, and epidermal growth factor on collagen and noncollagenous protein synthesis by cultured fibroblasts from medial collateral ligament and anterior cruciate ligament in vitro. Uptake of tritiated proline was used to measure synthesis of collagen and noncollagenous protein, and sodium dodecyl sulfate-polyacrylamide gel electrophoresis was used to analyze the type of collagens synthesized. Our data showed that transforming growth factor beta 1 increased both collagen and noncollagenous protein synthesis by medial collateral and anterior cruciate ligament fibroblasts on a dose-dependent basis. Collagen synthesis by cultured fibroblasts from the medial collateral and anterior cruciate ligaments was increased by treatment with transforming growth factor beta 1 by as much as approximately 1.5 times that of untreated controls. Although the response to transforming growth factor beta 1 by anterior cruciate ligament fibroblasts was equal to that by medial collateral ligament fibroblasts, the amounts of matrix proteins synthesized by anterior cruciate ligament fibroblasts were approximately half of that by medial collateral ligament fibroblasts. The increase was mostly in type-I collagen. Treatment of anterior cruciate ligament fibroblasts with epidermal growth factor increased collagen synthesis by approximately 25% but had little effect on medial collateral ligament fibroblasts. Neither basic nor acidic fibroblast growth factor increased either collagen or noncollagenous protein synthesis. These findings suggest that topical application of transforming growth factor beta 1, alone or in combination with epidermal growth factor, may have the potential to strengthen the ligament by increasing matrix synthesis during its remodeling and healing processes.

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.

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.

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.

Taste response in the facial nerve of the carp, Cyprinus carpio L.

The stimulating effect of taste substances on the external chemoreceptors of the carp, Cyprinus carpio L., was studied by recording the electrical activity from the facial taste fibers innervating the facial skin surface. The integrated responses from each whole nerve bundle of the trigemino-facial complex nerve revealed that gustatory receptors on the snout of the carp were extremely sensitive to salts, acids and the extract of silk worm pupae. Quinine-HCl and sucrose elicited relatively small responses. Responses occurred to several amino acids, and especially to betaine. The threshold concentration for both mono- and di-valent salts was estimated to be about 5 X 10-3 M and that for acids about 10-4 M. Single fiber analysis was performed on 77 preparations. According to responsiveness to the 4 basic chemicals, the fibers were classified into 5 types: type I, activated by one stimulus (22 fibers out of 77); type II by two (29); type III by three (11); type IV by four (13); and type V showing inhibition by quinine-HCl (2) as their notable feature. Single fibers responsive to several amino acids, and the worm extract were found, among which the last was the most effective stimulus as shown in the whole nerve experiments.

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.

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.

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.

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.

[Synergistic effect of thiamphenicol and cephalothin on Bacterioides fragilis (author's transl)].

Synergistic effect of thiamphenicol (TP) and cephalothin (CET) on Bacteroides fragilis was proved in vitro. Especially its effect was much clear on B. fragilis which is possible to produce beta-lactamase. Synergistic bactericidal effect of TP and CET was proved. Chemotherapeutic effect of TP and CET against experimental mixed infectious mouse due to E. coli (beta-lactamase -) and B. fragilis (beta-lactamase +) was proved.