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PubMed1989

T-cell response to phorbol ester PMA and calcium ionophore A23187 in Down's syndrome.

The proliferative response of purified T cells to anti-CD2 monoclonal antibodies (T112 plus T113) was found to be markedly reduced in 12 subjects with Down's syndrome (DS). The addition of phorbol ester PMA, which activates Ca2+/phospholipid-dependent enzyme protein kinase C, or calcium ionophore A23187, which increases intracytosolic free Ca2+ concentration, enhanced, but did not normalize, the defective anti-CD2-mediated T-cell mitogenesis. In contrast, the proliferation of resting lymphocytes from trisomic patients was comparable to that of the control cells when PMA and A23187 were used as co-blastogenic reagents. Because PMA and A23187 together bypass the early activation pathways and promote T-cell growth through the direct induction of membrane interleukin 2 (IL-2) receptor expression and IL-2 synthesis and secretion, it could reasonably be hypothesized that the faulty DS T-cell activation induced by antigen or mitogen is due to a deranged transmembrane signal transduction, rather than a defect in the later intracellular events.

Adolescent↗
PubMedDate not supplied

Use of topical mitomycin C in myoplasty of the medial rectus muscle of rabbits.

To possibly reduce postoperative adhesions that occur after ocular myoplasties, we investigated the topical effects of 0.04% mitomycin C on the repaired areas of the medial rectus muscle using an equine renal capsule preserved in 98% glycerin for reinforcement of the sutures. Twenty-four rabbits, divided into two groups of 12 animals each [untreated (control) and treated group (MMC)], were submitted to surgical rupture of the medial rectus muscle of one eye and repair of the defect 24 h later with sutures and an equine renal capsule. Post-operative prophylactic treatment of the two groups consisted of the administration of eye drops containing neomycin, polymyxin B and dexamethasone at regular 6-h intervals for eight consecutive days and daily rinsing with physiological saline. MMC animals received additional treatment with topical 0.04% mitomycin C every 6 h for 14 consecutive days. Slit lamp biomicroscopy showed greater irritation of the ocular surface in MMC animals during the first days post operatively. Adhesions were observed at 15 and 30 days of assessment in the two groups, but were more extensive in control animals at 60 days. Histopathology revealed inflammatory exudation in both groups, which was greater in MMC animals. Mitomycin C (0.04%) instilled at 6-h intervals for 14 consecutive days reduced the occurrence of fibrosis in the myoplastic areas. However, the equine renal capsule was found to be of little benefit for the reinforcement of myoplasties.

Administration, Topical↗
PubMed1989

The perialar arc rotation skin flap.

The perialar arc rotation skin flap is an excellent reconstructive option for defects of the lateral nose that do not significantly involve the ala. Design of this new skin flap and potential intraoperative problems are discussed. Use of microlipoextraction for some "trap door" skin flap deformities is presented.

Adult↗
PubMed1992

Treatment of root fracture with accompanying resorption using cermet cement.

A method of treating an apical root fracture with accompanying resorption at the junction of the fracture fragments using glass-cermet cement is described. Endodontically, the material had previously been used for repair of lateral resorptive root defects and retrograde root fillings. Complete bone regeneration was observed three years post-operatively following treatment of the root fracture in the conventional manner. The various advantages of glass-cermet cement as a root filling material used in the technique described are discussed.

Adult↗
PubMed1981

Manifest glaucoma in the aged I: occurrence nine years after a population survey.

The present study was based on already existing clinical data concerning 599 persons born before 1907, examined during a general ophthalmic survey 1969-72 and still remaining in the same district in July 1980. At the survey 1969-72, 19 out of 1057 persons had manifest glaucoma, 14 were already treated for ocular hypertension, 54 had an IOP greater than 20.5 mmHg and 970 were considered normal. Immediately after the survey, 17 patients were treated for manifest glaucoma and 19 for ocular hypertension. During the following 9 years treated persons were lost to a greater extent (64%) than untreated persons (43%). In July 1980 only 6 persons treated for manifest glaucoma since the survey remained, and 3 of them were socially blind. One out of 7 treated and 2 out of 28 untreated persons with ocular hypertension at the survey had developed visual field defects 9 years later. Manifest glaucomas, often advanced cases, were also detected in 9 persons considered normal at the survey. 5 out of 12 persons with manifest glaucoma detected after the survey had an IOP less than 20.5 mmHg at detection. The visual capacity of persons still remaining in the district 1980 was largely independent of all efforts to prevent blindness from glaucoma in the present population.

Aged↗
PubMed1996

Identification of Mycobacterium avium complex in sarcoidosis.

Cell wall-defective bacteria which later reverted to acid-fast bacilli have been isolated from sarcoid tissue. These have not been conclusively shown to be mycobacteria. Specific PCR assays were applied to identify mycobacterial nucleic acids in these cultured isolates and in fresh specimens obtained from patients with sarcoidosis. Positive amplification and hybridization were observed with Mycobacterium avium complex- and/or Mycobacterium paratuberculosis-specific probes in five of the six cultured isolates and two fresh skin biopsy samples and one cerebrospinal fluid specimen. There was no amplification or hybridization with Mycobacterium tuberculosis or M. avium subsp. silvaticum probes, respectively. Patients' sera were also tested for antibody reactivities by immunoblotting with M. paratuberculosis recombinant clones expressing the 36,000-molecular-weight antigen (36K antigen) (p36) and the 65K heat shock protein (PTB65K). All seven sarcoidosis, four of six tuberculosis, and all six leprosy patient serum specimens showed strong reactivity with p36 antigen. In contrast, 13 of 38 controls showed only weak reactivity with p36 (P = 0.002 for controls versus sarcoidosis samples). Similarly, PTB65K reacted with high intensity with sera from 5 of 5 sarcoidosis, 5 of 6 tuberculosis, and 5 of 6 leprosy patients, compared with its low-intensity reaction with 5 of 22 controls (P = 0.001 for controls versus sarcoidosis samples). This study demonstrates the isolation and/or identification of M. paratuberculosis or a closely related M. avium complex strain from sarcoid skin lesions and cerebrospinal fluid. Furthermore, the reactivity of antibodies in sarcoid patient sera against p36 and PTB65K antigens was comparable to the reactivity of sera obtained from patients with known mycobacterial disease. Collectively, these data provide further support for the theory of the mycobacterial etiology of sarcoidosis.

DNA, Bacterial↗
PubMed1999

Granulocytic sarcoma of the rectum: a rare complication of myelodysplasia.

A 67 year old man with myelodysplasia was admitted as an emergency with a six week history of rectal bleeding and diarrhoea. Barium enema showed an irregular polypoid filling defect in the lateral wall of the proximal rectum near the rectosigmoid junction. Histology showed this to be a granulocytic sarcoma (extramedullary granulocytic leukaemia; chloroma) infiltrating the bowel. A low index of suspicion of this lesion results in an incorrect diagnosis in many such cases. A chloroacetate esterase immunoperoxidase stain will confirm the granulocytic nature of the tumour cells.

Aged↗
PubMed1985

Primary versus secondary events in hypertension.

Functional modifications, such as a reduction in hormonal response, which occur in the cardiovascular system in hypertension, are reflected at the cellular level by anomalies in cyclic nucleotide and other messenger systems. To distinguish between primary and adaptive abnormalities, we pursued three research strategies. (i) Investigations on various models of hypertension. To be considered a primary defect, an abnormality should also be present in other genetically hypertensive models. Indeed, we have confirmed the occurrence of cellular hyperplasia in the heart of spontaneously hypertensive rats (SHR) as well as in spontaneously hypertensive mice (SHM). An increase of calmodulin levels in the heart and kidney is also observed in both the SHR and SHM. (ii) Studies on the evolution of hypertension with age. In humans, a decrease of cAMP levels in response to beta-adrenergic stimulation in older patients is contrasted with an excess in younger subjects. In the SHR, protein kinase activity of the heart is lower in the prehypertensive stages, whereas this defect appears much later in the aorta. (iii) Experiments on anomalies in newborns and cultured cells. The heart and kidney in the SHR exhibit significant hyperplasia at birth, and an abnormal growth continues in tissue culture. We hope that these strategies will eventually help to provide biochemical and functional markers for genetic analysis of factors which may be involved in the pathogenesis of hypertension.

Aging↗
PubMed1993

Genetics and molecular biology of chitin synthesis in fungi.

In Saccharomyces cerevisiae, three chitin synthases have been detected. Chitin synthases I and II, the products of the CHS1 and CHS2 genes, respectively, are closely related proteins that require partial proteolysis for activity in vitro. In contrast, chitin synthase III is active in vitro without protease treatment, and three genes, CSD2 (= CAL1), CSD4 (= CAL2), and CAL3, are required for its activity. In the cell, the three enzymes have different functions. Chitin synthase I and II make only a small portion, < 10%, of the cellular chitin. In acidic media, chitin synthase I is required for normal budding. Chitin synthase II is required for normal morphology, septation, and cell separation. Chitin synthase III is required for the synthesis of 90% of the cellular chitin, including the chitin in the bud scars and lateral wall. Mutants defective in chitin synthase III are resistant to Calcofluor and Kluyveromyces lactis killer toxin, they lack alkali-insoluble glucan, and under certain circumstances, they are temperature-sensitive for growth. The available data suggest that many fungi have more than one chitin synthase and that these synthases are related to the S. cerevisiae CHS and CSD gene products.

Amino Acid Sequence↗
PubMed2004

Autologous chondrocyte implantation in knee joint: MR imaging and histologic features at 1-year follow-up.

PURPOSE: To evaluate magnetic resonance (MR) imaging features of autologous chondrocyte implantation (ACI) grafts and compare these with graft histologic features 1 year after ACI for treatment of femoral condylar defects. MATERIALS AND METHODS: This study was approved by the regional ethics committee, and all patients gave informed consent. Forty-one patients (mean age, 35 years; 30 men, 11 women) underwent ACI for treatment of femoral condylar defects. One year later, knee joint MR imaging and graft biopsy were performed. Graft biopsy results were categorized into those showing hyaline, mixed fibrohyaline cartilage, fibrocartilage, and fibrous tissue. Standard T1-, T2-, T2*-, and intermediate-weighted sequences were performed, as well as three-dimensional (3D) fast low-angle shot (FLASH) and double-echo steady-state sequences for cartilage assessment. ACI grafts were assessed for signal intensity (with FLASH sequence), thickness, overgrowth, surface smoothness, integration to adjacent cartilage and underlying bone, bone marrow edema underneath graft, and contour of bone underneath graft. MR images were assessed by two observers, first independently and then in consensus. MR imaging findings were correlated with histologic findings. RESULTS: All 41 grafts were present at 1-year follow-up. The graft consisted of hyaline cartilage in four, mixed fibrohyaline cartilage in 10, fibrocartilage in 25, and fibrous tissue in two cases. Graft signal intensity was virtually always lower than adjacent normal cartilage signal intensity, and there was no relationship between graft signal intensity and histologic appearance (P = .34). Graft thickness (P = .83), overgrowth (P = .69), surface smoothness (P = .28), and integration with adjacent cartilage and underlying bone (P = .90); edema in bone marrow underneath graft (P = .63); and bone contour underneath graft (P = .94) at MR imaging had no correlation with graft histologic appearance. Graft overgrowth (n = 16; 39%) and edema-like signal in bone marrow underneath graft (n = 23; 56%) were common. The origin of graft overgrowth remains unclear. CONCLUSION: With the methods presented here, MR imaging findings cannot predict ACI graft histologic features, and graft histologic appearance determined at biopsy was not related to graft signal intensity, graft thickness, overgrowth, surface smoothness, integration with adjacent cartilage or underlying bone, signal intensity change in underlying bone marrow, or underlying bone contour. Overgrowth and bone marrow changes underneath the graft were common.

Adult↗
PubMed2000

Cerebrospinal fluid drainage to reverse paraplegia after endovascular thoracic aortic aneurysm repair.

PURPOSE: To report a case of endovascular descending thoracic aortic aneurysm (TAA) repair in which delayed-onset paraplegia was reversed using cerebrospinal fluid (CSF) drainage. METHODS AND RESULTS: A 74-year-old patient with a 6.0-cm TAA underwent endovascular stent-graft repair that involved overlapping placement of 3 Talent devices to cover the 31-cm-long defect. Twelve hours later, a neurological deficit occurred manifesting as left leg paralysis with paresis on the right. After urgent intrathecal catheter placement and drainage of cerebrospinal fluid for 48 hours, the neurological deficit resolved. The patient's clinical condition was normal and endoluminal exclusion of the TAA remained secure at 8-month follow-up. CONCLUSIONS: This case demonstrates the potential therapeutic role for CSF drainage to reduce the complications of spinal cord injury after endovascular thoracic aneurysm repair.

Aged↗
PubMed2005

Normal myoblast fusion requires myoferlin.

Muscle growth occurs during embryonic development and continues in adult life as regeneration. During embryonic muscle growth and regeneration in mature muscle, singly nucleated myoblasts fuse to each other to form myotubes. In muscle growth, singly nucleated myoblasts can also fuse to existing large, syncytial myofibers as a mechanism of increasing muscle mass without increasing myofiber number. Myoblast fusion requires the alignment and fusion of two apposed lipid bilayers. The repair of muscle plasma membrane disruptions also relies on the fusion of two apposed lipid bilayers. The protein dysferlin, the product of the Limb Girdle Muscular Dystrophy type 2 locus, has been shown to be necessary for efficient, calcium-sensitive, membrane resealing. We now show that the related protein myoferlin is highly expressed in myoblasts undergoing fusion, and is expressed at the site of myoblasts fusing to myotubes. Like dysferlin, we found that myoferlin binds phospholipids in a calcium-sensitive manner that requires the first C2A domain. We generated mice with a null allele of myoferlin. Myoferlin null myoblasts undergo initial fusion events, but they form large myotubes less efficiently in vitro, consistent with a defect in a later stage of myogenesis. In vivo, myoferlin null mice have smaller muscles than controls do, and myoferlin null muscle lacks large diameter myofibers. Additionally, myoferlin null muscle does not regenerate as well as wild-type muscle does, and instead displays a dystrophic phenotype. These data support a role for myoferlin in the maturation of myotubes and the formation of large myotubes that arise from the fusion of myoblasts to multinucleate myotubes.

Animals↗
PubMed1996

Mutations in zebrafish genes affecting the formation of the boundary between midbrain and hindbrain.

Mutations in two genes affect the formation of the boundary between midbrain and hindbrain (MHB): no isthmus (noi) and acerebellar (ace). noi mutant embryos lack the MHB constriction, the cerebellum and optic tectum, as well as the pronephric duct. Analysis of noi mutant embryos with neuron-specific antibodies shows that the MHB region and the dorsal and ventral midbrain are absent or abnormal, but that the rostral hindbrain is unaffected with the exception of the cerebellum. Using markers that are expressed during its formation (eng, wnt1 and pax-b), we find that the MHB region is already misspecified in noi mutant embryos during late gastrulation. The tectum is initially present and later degenerates. The defect in ace mutant embryos is more restricted: MHB and cerebellum are absent, but a tectum is formed. Molecular organisation of the tectum and tegmentum is disturbed, however, since eng, wnt1 and pax-b marker gene expression is not maintained. We propose that noi and ace are required for development of the MHB region and of the adjacent mid- and hindbrain, which are thought to be patterned by the MHB region. Presence of pax-b RNA, and absence of pax-b protein, together with the observation of genetic linkage and the occurrence of a point mutation, show that noi mutations are located in the pax-b gene. pax-b is a vertebrate orthologue of the Drosophila gene paired, which is involved in a pathway of cellular interactions at the posterior compartment boundary in Drosophila. Our results confirm and extend a previous report, and show that at least one member of this conserved signalling pathway is required for formation of the boundary between midbrain and hindbrain in the zebrafish.

Animals↗
PubMed1999

The basic-helix-loop-helix protein pod1 is critically important for kidney and lung organogenesis.

Epithelial-mesenchymal interactions are required for the development of all solid organs but few molecular mechanisms that underlie these interactions have been identified. Pod1 is a basic-helix-loop-helix (bHLH) transcription factor that is highly expressed in the mesenchyme of developing organs that include the lung, kidney, gut and heart and in glomerular visceral epithelial cells (podocytes). To determine the function of Pod1 in vivo, we have generated a lacZ-expressing null Pod1 allele. Null mutant mice are born but die in the perinatal period with severely hypoplastic lungs and kidneys that lack alveoli and mature glomeruli. Although Pod1 is exclusively expressed in the mesenchyme and podocytes, major defects are observed in the adjacent epithelia and include abnormalities in epithelial differentiation and branching morphogenesis. Pod1 therefore appears to be essential for regulating properties of the mesenchyme that are critically important for lung and kidney morphogenesis. Defects specific to later specialized cell types where Pod1 is expressed, such as the podocytes, were also observed, suggesting that this transcription factor may play multiple roles in kidney morphogenesis.

Alleles↗
PubMed1999

Goosecoid and mix.1 repress Brachyury expression and are required for head formation in Xenopus.

The Xenopus homologue of Brachyury, Xbra, is expressed in the presumptive mesoderm of the early gastrula. Induction of Xbra in animal pole tissue by activin occurs only in a narrow window of activin concentrations; if the level of inducer is too high, or too low, the gene is not expressed. Previously, we have suggested that the suppression of Xbra by high concentrations of activin is due to the action of genes such as goosecoid and Mix.1. Here, we examine the roles played by goosecoid and Mix.1 during normal development, first in the control of Xbra expression and then in the formation of the mesendoderm. Consistent with the model outlined above, inhibition of the function of either gene product leads to transient ectopic expression of Xbra. Such embryos later develop dorsoanterior defects and, in the case of interference with Mix.1, additional defects in heart and gut formation. Goosecoid, a transcriptional repressor, appears to act directly on transcription of Xbra. In contrast, Mix.1, which functions as a transcriptional activator, may act on Xbra indirectly, in part through activation of goosecoid.

3T3 Cells↗
PubMed2001

Involvement of p53-dependent apoptosis in radiation teratogenesis and in the radioadaptive response in the late organogenesis of mice.

The irradiation of fetuses at the late period of organogenesis has been known to induce a dramatic increase in malformations. The mechanisms involved, however, have remained unclear for a long time. Using the mouse limb bud system, we first found that radiation-induced apoptosis is involved in the malformation, namely, radiation-induced apoptosis in the predigital regions of embryonic limb buds is responsible for digital defects in mice. An examination of embryonic C57BL/6J mice with different p53 (trp53) status enabled us to further find that susceptibility to radiation-induced apoptosis in the predigital regions and digital defects depend on both the p53 status and the radiation dose; p53 wild-type mice appeared to be the most sensitive, while p53 knockout mice were the most resistant. These results indicate that p53-dependent apoptosis mediates radiation-induced digital defects in the later organogenesis period. The existence of a radioadaptive response in embryonic mice, which has not been reported so far, was found by irradiating embryos with either 5 cGy or 30 cGy on embryonic day 11 prior to a challenging irradiation at 3 Gy on embryonic day 12. p53-heterozygous embryos did not show the radioadaptive response, indicating the involvement of p53 in the radioadaptive response in embryogenesis.

Adaptation, Physiological↗
PubMed1976

Ossicular reconstruction in tympanoplasty - mobile stapes without crural arches, fixed stapes with and without crural arches.

A description of ossicular reconstruction in problems with the stapes using autograft and/or homograft ossicles is given. The inverted stapes is employed for otosclerosis and tympanosclerosis. The two ossicle reconstruction is used in cases of a mobile footplate with absent crural arches. The reshaped incus is repositioned between the malleus handle and oval window when the stapes is fixed and there also exists a lateral ossicular chain defect. Loose connective tissue is an effective seal for the oval window and is a means of stabilizing ossicular functions.

Humans↗
PubMed1989

Entrapment of the superficial peroneal nerve. Diagnosis and results of decompression.

Entrapment of the superficial peroneal nerve was treated in 24 legs of 21 patients by fasciotomy and neurolysis; 19 of the patients were reviewed after a mean period of 37 months. Nine were satisfied with the result, another six were improved but not satisfied because of residual limitation of athletic activity, three were unchanged and one was worse. Conduction velocity in the superficial peroneal nerve had increased after operation, but the change was not significant. In five patients the nerve had an anomalous course and in 11 there were fascial defects over the lateral compartment. Chronic lateral compartment syndrome is an unusual cause of nerve entrapment. Operative decompression produces cure or improvement in three-quarters of the cases, but is less effective in athletes.

Adolescent↗