Ectodermal dysplasia, ectrodactyly, and clefting syndrome and bilateral retinal detachment.
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Cleft Lip↗
Biomedical subjects
T Hirose
Publications and source records attributed to T Hirose.
Transforming growth factor alpha and CD68 immunoreactivity in giant cell tumours of bone: a study on the nature of stromal and giant cells, and their interrelations.
To clarify the nature of neoplastic cells, 17 giant cell tumours of bone were studied histologically and immunohistochemically. L1 antigen and S-100 protein were not detected in the tumour giant cells and stromal cells, although present in non-neoplastic macrophages. The giant cells in all the lesions, some stromal cells, and osteoclasts in the normal bone showed CD68 and transforming growth factor alpha (TGF alpha) immunoreactivity. Fibrohistiocytic antigen, factor XIIIa, was expressed in large numbers of stromal cells in all lesions. Some stromal cells expressed alpha-smooth muscle actin and osteocalcin. These immunohistochemical results suggested that the stromal cells of giant cell tumours of bone showed histiocytic and occasional myofibroblastic and osteoblastic differentiation. Proliferating cell nuclear antigen was demonstrated in the nuclei of the stromal cells only, indicating that these were the sole proliferating elements. TGF alpha produced by the giant cells and some stromal cells may play a role as a mediator for the attraction and/or proliferation of the precursor cells, and may suppress the activity of osteoblastic stromal cells, resulting in restricted bone formation in giant cell tumours.
Adolescent↗
The 4F9 antigen is a member of the tetra spans transmembrane protein family and functions as an accessory molecule in T cell activation and adhesion.
In this report, we describe a 43- to 50-kDa protein, which may function as a costimulatory molecule for full activation of human T cells. This Ag, defined by a mouse monoclonal antibody (mAb) anti-4F9, is primarily distributed on "helper/inducer" or "memory" CD4+CD45RO+ subset. Like mAbs against many other accessory/costimulatory molecules, coimmobilization of anti-4F9 with anti-CD3 resulted in synergistic T cell proliferation. In addition, immobilized anti-4F9 on plastic plates induced T cell spreading characterized by the development of prominent dendritic processes. A cDNA encoding the 4F9 Ag was isolated from a cDNA library constructed from PHA/PMA-activated T cells using a COS cell expression system. The sequence of the cDNA and a homology search revealed that the 4F9 Ag was identical to R2, a molecule recently cloned by subtractive hybridization. The 4F9/R2 Ag belongs to a newly identified supergene family (tetra spans transmembrane protein family) characterized by four putative transmembrane domains which are highly conserved between the members of this family. Based upon the phenotypical and functional studies described here, we propose that the 4F9 Ag is an integral membrane protein which can transmit signals involved in T cell proliferation and adhesion. The preferential distribution of this molecule on the CD4+CD45RO+ subset of T cells may contribute to the distinct activation profile and functional repertoire of these cells.
Animals↗
Stargardt's disease/fundus flavimaculatus: psychophysical and electrophysiologic results.
Retinal functions were analyzed psychophysically and electrophysiologically in 73 patients (146 eyes) with Stargardt's disease/fundus flavimaculatus. Patients were classified into types 1, 2, 3, and 4; patients with type 3 were subdivided into 3E and 3L (early and late onset of initial symptoms). Most had visual acuity (VA) of 20/200 or greater at initial testing. VA declined 0.25 octave/year during follow-up (mean, 6.1 years). Four of 16 patients (25%) older than 40 years had VA of 20/200 or less in the stronger eye. Psychophysical tests (flicker profile, central scotoma, dark adaptation) showed variable degrees of abnormalities. Electrophysiological tests showed significant photopic b-wave amplitude decreases, particularly in type 3E (42.2% of normal). The electro-oculogram light peak/dark trough ratio was abnormal in 60 of 132 eyes (45.5%), especially in type 3E (25 of 34 eyes, 73.5%). Visual prognosis and overall visual function varied depending upon disease type, location of retinal lesions, and age of onset. In Type 3E, overall retinal function was poorest and accompanied by the most severe decline of central vision and function in the surrounding macula.
Adolescent↗
Glaucoma as a cause of poor vision in severe retinopathy of prematurity.
Despite surgical reattachment of the retina in infants with severe retinopathy of prematurity (ROP), visual acuity may decline. We performed gonioscopy and applanation tonometry on 26 eyes of 17 infants with severe ROP who were randomly selected and followed prospectively for 2 years. Of these 26 eyes, one eye of one patient had only peripheral retinocryopexy for threshold stage III disease and had an attached retina before enrollment into the study. Sixteen infants subsequently underwent vitrectomy, scleral buckle, or both. Retinal reattachment of the posterior pole was present in at least one eye each of 10 of the 17 infants. Glaucoma was diagnosed in 5 of the 10 patients; all 5 showed a decrease in visual acuity of greater than 1 octave. Of the 5 infants without glaucoma, 3 showed visual improvement, and 2 remained the same. Although we studied a small number of cases, our results suggest that glaucoma may be a cause of visual decline in infants with severe ROP. A decline in visual acuity in infants with severe ROP and surgical retinal reattachment may warn us of glaucoma, as this diagnosis is difficult to make in these small infants.
Child, Preschool↗
Epidural block for treatment of intestinal obstruction--clinical and experimental studies.
Seventy patients with intestinal obstruction were managed with usual conservative treatments and epidural anesthesia to block splanchnic and somatic nervous systems, for nine years from 1981 to 1990. Improvement of clinical symptoms and general conditions was accomplished in 48 patients (68.6%). In these 48 patients, 41 patients (58.6%) had complete remission of intestinal obstruction, showing flatus in 8.3 hours on an average, but seven (10.0%) had incomplete remission. For these seven, after improvements of their clinical symptoms, elective radical operations were performed within three weeks. In 22 (31.4%) patients whose symptoms were not improved at all with the epidural block, emergency exploratory celiotomies were performed, 15.4 hours on an average after the initial epidural block. Indications for surgical intervention of intestinal obstruction were decided by the absent movement of gas in the bowel in a series of plain X-rays. The effectiveness of the epidural block on the motility of the obstructed intestinal loop was experimentally confirmed in monkeys. We suggested that the epidural block, accompanied with usual conservative treatments, be recommended as the initial treatment for intestinal obstruction.
Journal Article↗
Soluble human high-affinity receptor for IgE abrogates the IgE-mediated allergic reaction.
The high-affinity receptor for IgE (Fc epsilon RI) has a tetrameric structure structure composed of one alpha, one beta, and two disulfide-linked gamma subunits, of which the alpha subunit binds IgE with high affinity. A recombinant soluble form of the ectodomain of the human Fc epsilon RI alpha subunit (rsFc epsilon RI alpha) was recently generated by gene engineering and was verified to bind IgE with an affinity as high as that of native Fc epsilon RI on the cell surface. rsFc epsilon RI alpha was prepared on a large scale in order to analyze its biological function. rsFc epsilon RI alpha completely inhibited IgE binding to the cell surface, resulting in abrogation of the chemical mediator release from RBL-2H3 cells. Furthermore it completely abolished the passive cutaneous anaphylaxis (PCA) response by trapping IgE specifically when it was administered into rats prior to IgE sensitization. Even after IgE sensitization, treatment of rsFc epsilon RI alpha substantially reduced the PCA response. It was finally shown that rsFc epsilon RI alpha inhibited IgE binding to human peripheral blood basophils and the histamine release from them. In this paper we address the ability of rsFc epsilon RI alpha to specifically prevent the IgE-mediated allergic reaction.
Animals↗
Solitary infantile myofibromatosis of bone. An immunohistochemical and ultrastructural study.
A rare case of solitary infantile myofibromatosis of bone in an 11-month-old boy is reported. Radiographically the lesion of parietal bone was round, well-circumscribed, and osteolytic with a sclerotic rim. Histologically the tumor was made up of nodules that were hyalinized or cellular and containing plump, spindle-shaped cells that were intermediate in appearance between fibroblasts and smooth-muscle cells, arranged in short bundles or whorls. Another typical feature was the presence of distended, cleft-shaped vascular spaces around the nodules. The microscopic features of this tumor were consistent with those of infantile myofibromatosis of other sites, such as the skin and deep soft tissue. The tumor cells showed immunoreactivities for vimentin and alpha-smooth muscle actin. Microfilaments with dense bodies were observed in the fibroblast-like tumor cells. In addition, many tumor cells stained for collagen type IV and were covered by incomplete external laminae, indicating infantile myofibromatosis has more advanced smooth-muscle differentiation than conventional fibromatosis.
Actins↗
Nail plasty in the treatment of duplicated thumb.
We present refinements in the treatment of duplicated thumb. When applying the modified Bilhauts procedure including the nail, this design based on a lunula is useful to construct a natural looking nail in Wassel types 2 to 4. No bone fixation of each segment is also effective to produce an even transverse curvature of the reconstructed nail.
Female↗
Clinical methods for detecting the carrier state of X-chromosome-linked retinal disorders.
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Albinism, Ocular↗
Bilateral lateral vermilion border transposition flaps to correct the "whistling lip" deformity.
A simple method of transposing bilateral lateral vermilion border flaps into the midposterior line of the prolabium to correct the "whistling lip" deformity is presented. This method makes it possible to decrease the upper lip tension, deepen the labiogingival sulcus, and reconstruct a peaked tubercle.
Adolescent↗
Familial cryptotia.
A case of familial cryptotia is presented, and the hereditary basis for this condition is discussed. Although, intuitively, the distribution of the intrinsic auricular muscle, the primary etiologic factor in cryptotia, must be determined genetically, further studies are needed to establish the mode of inheritance.
Adolescent↗
Mechanism of pain in osteoid osteomas: an immunohistochemical study.
Osteoid osteoma is a benign bone tumour characterized by pain which is relieved by non-steroidal anti-inflammatory drugs (NSAIDs), such as aspirin. To clarify the mechanism of the pain, five osteoid osteomas were studied immunohistochemically using polyclonal antibodies against prostaglandin E2 (PGE2), S-100 protein and protein gene product 9.5 (PGP 9.5). In all five cases, the pain had been relieved by NSAIDs. Nerve fibres positive for S-100 protein and PGP 9.5 were observed in the fibrous zone, especially close to the blood vessels, around the nidus in all the lesions and also within the nidus in three lesions. PGE2 immunoreactivity was variably positive in the nidus of three lesions. In one case a large number of actively proliferating osteoblasts reacted with this antibody. The other cases showed unevenly distributed PGE2 positivity which tended to be prominent in the plump osteoblasts. As control material we examined fibrous dysplasia (3 cases), osteosarcomas (3) and giant-cell tumours of bone (3). The plump osteoblastic tumour cells of three osteosarcomas and the bone-forming cells in two cases of fibrous dysplasia gave a positive reaction for PGE2. No S-100 or PGP 9.5 immunoreactive nerve fibres were seen in these lesions. It is concluded that the presence of nerve fibres alone might play a more important role in mediation of pain in osteoid osteomas than some effects of osteoblast-produced PGE2 on the nerves and proliferated blood vessels.
Adolescent↗
Effects of light scatter, defocusing, mean luminosity, contrast, and central scotoma on the PVER amplitude-check size function curve.
We analyzed the effects of various stimulus parameters, ie, light scatter, defocusing, mean luminosity, contrast, and central scotoma, on the normal pattern reversal visual evoked response (PVER), amplitude-check size function curve in six normal subjects. The steady-state PVER was recorded with five check sizes ranging from 160 to 10 min in 1-octave increments. The PVER amplitude, especially with the smaller check sizes, was markedly decreased by light scatter induced by acrylic sheets. The function curve quickly changed to a low pass filter shape when +2.0 diopters of defocus were added, with the decrease most marked in the small check sizes. When the mean luminosity was decreased, the function curve maintained its normal inverted-U shape up to 5 cd/m2, but the shape flattened with lower luminosity. Amplitude decreases were seen with all check sizes in low luminosity. With contrast changes from 95 to 24%, the function curve maintained its normal shape, but with slightly reduced amplitudes. The amplitude decrease was moderate even with the lowest contrast. With a two-degree central scotoma, the PVER amplitude was reduced more with the smaller than the larger check sizes. The function curve became somewhat flatter, with its peak shifting to the larger check sizes. Results indicated that the shape of the PVER amplitude-check size function curve changes in response to different modes of stimulation.
Adult↗
[Study of local immune response in mice with an impaired chemotaxis of neutrophils--in Pseudomonas aeruginosa induced experimental urinary tract infection].
Experimental ascending urinary tract infection was induced by transurethral instillation of Pseudomonas aeruginosa in mice whose neutrophilic chemotactic activity was suppressed by administration of colchicine, and we investigated the time course fluctuation of local immune response at the infected sites in terms of immune response cells as compared with that in normal mice. In comparison with that in normal mice, a significant suppression was noted in the chemotactic activity of the peritoneal exudating neutrophils when colchicine at a dose of 0.02 mg/mouse was administrated a total of 4 times, namely, 1, 3 and 5 days, and 6 hours before infection (the day of assessment). When experimental ascending urinary tract infection was induced by P. aeruginosa, markedly increased susceptibility to bacterial infection was noted in mice with an impaired chemotaxis of neutrophils (impaired neutrophilic chemotaxis group) as compared with that in normal mice (control group). Apparent infiltration of neutrophils was recognized one day after infection in the control group by the time course observation of the immune response cells at the sites of infection while hardly any infiltration was observed in the impaired neutrophilic chemotaxis group one day after infection. In other words, the cellular infiltration into an infected site was conceivably obstructed when the chemotactic activity was impaired. On the other hand, macrophages in the impaired neutrophilic chemotaxis group demonstrated marked infiltration as compared with that in the control group one day after infection, and such infiltration remained on the same higher level thereafter. As for T and B cells, an increased ratio was noted in helper T cells and early infiltration in IgG positive B cells 3 days after infection and onward when compared with the control group. It was therefore suggested that other immune response cells compensated for the infiltration of neutrophils when their chemotactic activity was obstructed, and that these cells on the whole possibly responded toward the preservation of their protective mechanism against infection.
Animals↗
Effect of hemifield stimulation on simultaneous steady-state pattern reversal electroretinogram and visual evoked response.
Steady-state pattern reversal electroretinograms (PERG) and pattern reversal visual evoked responses (PVER) were recorded simultaneously in 4 normal subjects using hemifield stimulation of the upper/lower and nasal/temporal conditions with 95 and 60% stimulus contrasts. A square-wave checker-board pattern (check size 40 min of arc) was used. The temporal frequency (reversal rate) was 6 Hz (12 reversals/s). With nasal/temporal hemifield stimulation, neither the PERG nor the PVER amplitudes differed significantly with either stimulus contrast. With the upper/lower hemifield stimulation, PERG amplitudes were not significantly different; PVER showed a significantly larger amplitude for lower than for upper hemifield stimulation with both contrasts (ANOVA test: p = 0.0064, 95% contrast; p = 0.0018, 60% contrast). PVER amplitudes recorded with lower hemifield stimulation were 2.05 and 2.63 times larger than those elicited with upper hemifield stimulation, for the 95 and 60% contrasts, respectively. The difference in response to the upper/lower hemifield stimulation, observed only in PVER, suggests that the lower stimulus field dominancy may be processed in a visual pathway proximal to the retinal level.
Adult↗
Correlating visual acuity and electrooculogram recordings in Best's disease.
The visual function in 54 eyes of 27 patients with Best's disease was analyzed by retrospectively examining the Snellen visual acuities and the electrooculogram (EOG). Visual acuities, generally well maintained in most patients, were 20/40 (0.5) or better in 41 of 54 (75.9%) eyes, and showed no correlation with age. Those in the cicatricial stage had worse visual acuities than those in the previtelliform stage. The EOG was abnormal in 47 eyes (87.0%) with a subnormal light peak/dark trough (Lp/Dt) ratio less than 1.85. Seven eyes (13.0%) with an Lp/Dt ratio 1.85 or higher had significantly smaller Dt values compared with those with a low Lp/Dt ratio. The Lp/Dt ratio did not correlate with patient age or disease stage. No correlation existed between visual acuities and Lp/Dt ratios. The Lp/Dt ratio did not reflect the severity of the macular lesions. The results indicate that not only a low Lp/Dt ratio but also a low dark trough value in cases with a normal Lp/Dt ratio are helpful in diagnosing Best's disease.
Adolescent↗
Leydig cell tumor: a case report with reference to its endocrinological features.
We reported an adult case of Leydig cell tumor, which demonstrated an increase of serum estradiol (E2) and suppression of serum testosterone (T) before orchiectomy. The direct inhibitory action of the elevated E2 on the enzymes involved in steroidogenesis and the negative feedback action on luteinizing hormone (LH) secretion of the E2 possibly caused the suppression of serum T. A human chorionic gonadotropin test before the operation revealed the elevation of T and E2, although the response was poor compared with that in normal subjects. However, the postoperative test showed no elevation of these hormones. This result may indicate that the Leydig cell tumor preserves a response to LH stimulation.
Chorionic Gonadotropin↗